diff --git a/Makefile b/Makefile index 02f636e..0a44717 100644 --- a/Makefile +++ b/Makefile @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # @@ -39,7 +39,7 @@ TCLDIRDISTRIBUTED := share/tcl TCLDIR := $(SHAREDIR)/$(TCLVERSION) PYTHONDIR := $(SHAREDIR)/python3 ANNOTSV := AnnotSV -VERSION := 3.4.2 +VERSION := 3.4.3 RM := /bin/rm RMDIR := /bin/rmdir MKDIR := install -d diff --git a/bin/AnnotSV b/bin/AnnotSV index 0a5f671..5bb3fd4 100755 --- a/bin/AnnotSV +++ b/bin/AnnotSV @@ -1,7 +1,7 @@ #!/usr/bin/env tclsh ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/changeLog.txt b/changeLog.txt index 13b75fd..7e873a2 100644 --- a/changeLog.txt +++ b/changeLog.txt @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # An integrated tool for Structural Variations annotation # # # @@ -11,7 +11,7 @@ For more details, please see the README file. -, 2024, AnnotSV version 3.4.3 +August, 29, 2024, AnnotSV version 3.4.3 - New definition of alias gene symbols used in OMIM annotation files. Keep only aliases found with the NCBI_gene_ID and validated with genomic locations - Add a new check for the variantconvert configuration (issue 246) diff --git a/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.tsv b/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.tsv index c60fcdb..7dc7352 100644 --- a/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.tsv +++ b/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.tsv @@ -1,23 +1,23 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biologist_ranking Samples_ID Annotation_mode CytoBand Gene_name Closest_left Closest_right Gene_count Tx Tx_version Tx_start Tx_end Overlapped_tx_length Overlapped_CDS_length Overlapped_CDS_percent Frameshift Exon_count Location Location2 Dist_nearest_SS Nearest_SS_type Intersect_start Intersect_end RE_gene P_gain_phen P_gain_hpo P_gain_source P_gain_coord P_loss_phen P_loss_hpo P_loss_source P_loss_coord P_ins_phen P_ins_hpo P_ins_source P_ins_coord po_P_gain_phen po_P_gain_hpo po_P_gain_source po_P_gain_coord po_P_gain_percent po_P_loss_phen po_P_loss_hpo po_P_loss_source po_P_loss_coord po_P_loss_percent P_snvindel_nb P_snvindel_phen B_gain_source B_gain_coord B_gain_AFmax B_loss_source B_loss_coord B_loss_AFmax B_ins_source B_ins_coord B_ins_AFmax B_inv_source B_inv_coord B_inv_AFmax po_B_gain_allG_source po_B_gain_allG_coord po_B_gain_someG_source po_B_gain_someG_coord po_B_loss_allG_source po_B_loss_allG_coord po_B_loss_someG_source po_B_loss_someG_coord Cosmic_ID Cosmic_mut_typ GC_content_left GC_content_right Repeat_coord_left Repeat_type_left Repeat_coord_right Repeat_type_right Gap_left Gap_right SegDup_left SegDup_right ENCODE_blacklist_left ENCODE_blacklist_characteristics_left ENCODE_blacklist_right ENCODE_blacklist_characteristics_right ACMG HI TS DDD_HI_percent ExAC_delZ ExAC_dupZ ExAC_cnvZ ExAC_synZ ExAC_misZ GenCC_disease GenCC_moi GenCC_classification GenCC_pmid NCBI_gene_ID OMIM_ID OMIM_phenotype OMIM_inheritance OMIM_morbid OMIM_morbid_candidate LOEUF_bin GnomAD_pLI ExAC_pLI AnnotSV_ranking_score AnnotSV_ranking_criteria ACMG_class -22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA full q11.21 DGCR6;PRODH;LOC122455341;DGCR5;FAM246C;DGCR2;DGCR11;ESS2;TSSK2;GSC2;LINC01311;SLC25A1;CLTCL1;HIRA;MRPL40;C22orf39;UFD1;CDC45;CLDN5;LINC00895;SEPTIN5;SEPT5-GP1BB;GP1BB;TBX1;GNB1L;RTL10;TXNRD2;COMT;MIR4761;ARVCF;TANGO2;MIR185;DGCR8;MIR3618;MIR1306;TRMT2A;MIR6816;RANBP1;SNORA77B;ZDHHC8;CCDC188;LINC02891;LINC00896;RTN4R;MIR1286;DGCR6L;FAM230A;GGTLC3;TMEM191B;PI4KAP1;RIMBP3;FAM246B;FAM230J;FAM230G;ZNF74;SCARF2;KLHL22;MED15;POM121L4P;TMEM191A;PI4KA;SERPIND1;SNAP29;CRKL;LINC01637;AIFM3;LZTR1;THAP7;THAP7-AS1;TUBA3FP;P2RX6;SLC7A4;MIR649;P2RX6P;LRRC74B;BCRP2 FAM230F LOC102724728 76 ABL1 (morbid/RE=mTL_miRNA);ACTN4 (morbid/RE=mTL_miRNA);ACVR2B (morbid/RE=mTL_miRNA);ADA2 (morbid/RE=ABC_enhancer);ADAR (morbid/RE=mTL_miRNA);ADH5 (morbid/RE=mTL_miRNA);AFF2 (HI=3/morbid/RE=mTL_miRNA);AGO1 (morbid/RE=mTL_miRNA);AGO2 (morbid/RE=mTL_miRNA);AHI1 (morbid/RE=mTL_miRNA);AKR1A1 (morbid/RE=mTL_miRNA);AKT1 (morbid/RE=mTL_miRNA);ALG1 (morbid/RE=mTL_miRNA);AMH (morbid/RE=mTL_miRNA);APCDD1 (morbid/RE=mTL_miRNA);APEX1 (morbid/RE=mTL_miRNA);AR (HI=3/morbid/RE=mTL_miRNA);ARID1A (HI=3/morbid/RE=mTL_miRNA);ASH1L (HI=3/morbid/RE=mTL_miRNA);ATAD5 (morbid/RE=mTL_miRNA);ATM (HI=3/morbid/RE=mTL_miRNA);ATP6AP1 (morbid/RE=mTL_miRNA);ATP6V0A2 (morbid/RE=mTL_miRNA);ATP6V1E1 (morbid/RE=ABC_enhancer);ATR (morbid/RE=mTL_miRNA);B4GALT1 (morbid/RE=mTL_miRNA);BACH1 (morbid/RE=mTL_miRNA);BAP1 (HI=3/morbid/RE=mTL_miRNA);BBS5 (morbid/RE=mTL_miRNA);BCL10 (morbid/RE=mTL_miRNA);BMPR1A (HI=3/morbid/RE=mTL_miRNA);BNC2 (morbid/RE=mTL_miRNA);BRD4 (morbid/RE=mTL_miRNA);BTG2 (morbid/RE=mTL_miRNA);C3 (morbid/RE=mTL_miRNA);CACNA1C (morbid/RE=mTL_miRNA);CAD (morbid/RE=mTL_miRNA);CALM3 (morbid/RE=mTL_miRNA);CAPN15 (morbid/RE=mTL_miRNA);CASP14 (morbid/RE=mTL_miRNA);CBL (morbid/RE=mTL_miRNA);CCDC134 (morbid/RE=mTL_miRNA);CCND2 (morbid/RE=mTL_miRNA);CCNQ (morbid/RE=mTL_miRNA);CDC42 (morbid/RE=mTL_miRNA);CDKN1A (morbid/RE=mTL_miRNA);CEP104 (morbid/RE=mTL_miRNA);CERS1 (morbid/RE=mTL_miRNA);CHRDL1 (HI=3/morbid/RE=mTL_miRNA);CLCC1 (morbid/RE=mTL_miRNA)... 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) TS3:ISCA-37433;dbVar:nssv15121202;dbVar:nssv15132168;dbVar:nssv15132429;dbVar:nssv15132430;dbVar:nssv15132553;dbVar:nssv15132642;nssv15139997;dbVar:nssv15132749;dbVar:nssv15133139;dbVar:nssv15133442;dbVar:nssv15133527;dbVar:nssv15133528;dbVar:nssv15133531;dbVar:nssv15133921;dbVar:nssv15134211;dbVar:nssv15134239;dbVar:nssv15134353;dbVar:nssv15136015;dbVar:nssv15137439;dbVar:nssv15138177;dbVar:nssv15138869;dbVar:nssv15140282;dbVar:nssv15141369;dbVar:nssv15153269;dbVar:nssv15156361;dbVar:nssv15605811;dbVar:nssv15605831;dbVar:nssv15605876;dbVar:nssv15755816;dbVar:nssv16207465;dbVar:nssv16736612;dbVar:nssv16736616;dbVar:nssv18830899;dbVar:nssv18830992 22:18894836-20311784;22:18894836-21461752;22:18894836-21464119;22:18896973-21440514;22:18900756-21075586;22:18908833-21358123;22:18909039-21440514;22:18909045-21464119;22:18912232-20287208;22:18912515-21431174;22:18916828-21050078;22:18916829-20312661;22:18916843-20311810;22:18916843-20311858;22:18916843-20312661;22:18919943-20311763;22:18919943-20659606;22:18919943-20708934;22:18919943-21440514;22:18923899-21431174;22:18937381-21459713;22:18938162-21455556;22:18950767-21455556;22:18970562-21040836;22:18973253-21435405;22:19168759-20942862;22:20895156-21374512;22:20958985-21379958;22:21044197-21440455;22:21045039-21455556;22:21065883-21440455;22:21081261-21440455;22:21086707-21445960;22:21300291-21331188 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1);Bernard-Soulier syndrome, type B, 231200 (3) AR;Giant platelet disorder, isolated, 231200 (3) AR;Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) AR;Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) AR;Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3) AR;Conotruncal anomaly face syndrome, 217095 (3);DiGeorge syndrome, 188400 (3) AD;Tetralogy of Fallot, 187500 (3) AD;Velocardiofacial syndrome, 192430 (3) AD;Gastrointestinal defects and immunodeficiency syndrome 2, 619708 (3) AR;Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3) AR;Spastic paraplegia 84, AR, 619621 (3) AR;Hyperprolinemia, type I, 239500 (3) AR;Schizophrenia, susceptibility to, 4, 600850 (3) AD;Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3) AR;Noonan syndrome 10, 616564 (3) AD;Noonan syndrome 2, 605275 (3) AR;Schwannomatosis-2, susceptibility to, 615670 (3) AD;Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Cardiac_arrhythmia|Seizure|Acute_rhabdomyolysis|Episodic_flaccid_weakness|Intellectual_disability;Thrombophilia 10 due to heparin cofactor II deficiency, 612356 (3) AD;Van den Ende-Gupta syndrome, 600920 (3) AR;|DiGeorge_syndrome HP:0000730;HP:0001249;HP:0001250;HP:0001267;HP:0001275;HP:0001286;HP:0001303;HP:0001656;HP:0001661;HP:0001665;HP:0001666;HP:0001687;HP:0001721;HP:0002122;HP:0002125;HP:0002182;HP:0002192;HP:0002279;HP:0002306;HP:0002316;HP:0002348;HP:0002382;HP:0002386;HP:0002391;HP:0002402;HP:0002417;HP:0002430;HP:0002431;HP:0002432;HP:0002434;HP:0002437;HP:0002458;HP:0002466;HP:0002479;HP:0002482;HP:0002499;HP:0002543;HP:0002794;HP:0003752;HP:0003767;HP:0004351;HP:0005158;HP:0006833;HP:0006997;HP:0007154;HP:0007176;HP:0007180;HP:0008942;HP:0010520;HP:0011675 CLN:226591;CLN:2871255;CLN:959024;HI3:ISCA-37433;dbVar:nssv15119864;dbVar:nssv15120710;dbVar:nssv15124351;dbVar:nssv15124515;dbVar:nssv15129189;dbVar:nssv15130834;dbVar:nssv15130929;dbVar:nssv15131088;dbVar:nssv15131611;dbVar:nssv15132323;nssv15139981;dbVar:nssv15132334;dbVar:nssv15132747;dbVar:nssv15132748;dbVar:nssv15132933;dbVar:nssv15132934;dbVar:nssv15132935;dbVar:nssv15132939;dbVar:nssv15133099;dbVar:nssv15133185;dbVar:nssv15133186;dbVar:nssv15133443;dbVar:nssv15133817;dbVar:nssv15134350;nssv15139984;dbVar:nssv15134354;dbVar:nssv15134360;dbVar:nssv15134361;dbVar:nssv15134635;dbVar:nssv15134703;dbVar:nssv15134820;dbVar:nssv15134849;dbVar:nssv15136233;dbVar:nssv15137726;dbVar:nssv15137759;dbVar:nssv15137802;dbVar:nssv15138106;dbVar:nssv15138475;dbVar:nssv15139405;dbVar:nssv15139434;dbVar:nssv15139445;nssv15774763;dbVar:nssv15139759;dbVar:nssv15140043;dbVar:nssv15140048;dbVar:nssv15140057;dbVar:nssv15141198;dbVar:nssv15141722;dbVar:nssv15142496;dbVar:nssv15143197;dbVar:nssv15143645;dbVar:nssv15144279;dbVar:nssv15144449;dbVar:nssv15153165;dbVar:nssv15154011;dbVar:nssv15155693;dbVar:nssv15156360;dbVar:nssv15162020;dbVar:nssv15162021;dbVar:nssv15605807;dbVar:nssv15605829;dbVar:nssv15605830;nssv16216546;dbVar:nssv15605834;dbVar:nssv15755310;dbVar:nssv15755712;dbVar:nssv15755812;dbVar:nssv15770037;dbVar:nssv15770783;dbVar:nssv15770877;dbVar:nssv15772938;nssv15773614;nssv15775115;nssv15775184;nssv15775592;dbVar:nssv15772982;dbVar:nssv15775129;dbVar:nssv15776509;dbVar:nssv15776863;dbVar:nssv15776865;dbVar:nssv15776871;dbVar:nssv16208595;dbVar:nssv16208596;dbVar:nssv16212111;dbVar:nssv16213307;dbVar:nssv16213808;dbVar:nssv16214784;dbVar:nssv16215255;dbVar:nssv16215257;dbVar:nssv16216543;dbVar:nssv16216544;nssv8639845;nssv15161831;dbVar:nssv16254574;dbVar:nssv16254739;dbVar:nssv16255831;dbVar:nssv16736634;dbVar:nssv17171460;nssv17974163;dbVar:nssv17171461;dbVar:nssv17171462;dbVar:nssv17171559;dbVar:nssv17171582;dbVar:nssv17171772;dbVar:nssv17649936;dbVar:nssv17649973;dbVar:nssv17955605;dbVar:nssv17955606;dbVar:nssv17955868;dbVar:nssv17970829;dbVar:nssv17971092;dbVar:nssv17971094;dbVar:nssv17971356;dbVar:nssv17971399;dbVar:nssv17977042;dbVar:nssv18329601;dbVar:nssv18329824;dbVar:nssv18330264;dbVar:nssv18330322;dbVar:nssv18330820;dbVar:nssv18786380;dbVar:nssv18790095;dbVar:nssv18792883;dbVar:nssv18841927;nssv18830898;dbVar:nssv8639589;nssv15122532;morbid:GP1BB;morbid:LZTR1;morbid:PI4KA;morbid:PRODH;morbid:SCARF2;morbid:SERPIND1;morbid:SLC25A1;morbid:SNAP29;morbid:TANGO2;morbid:TBX1 22:18894836-20238206;22:18894836-20311763;22:18894836-20659606;22:18894836-21440514;22:18894836-21461752;22:18894836-21461811;22:18894836-21464119;22:18896973-20311763;22:18896973-21382953;22:18896973-21440514;22:18899288-18925066;22:18900294-18924066;22:18900295-18923806;22:18900443-21440514;22:18900669-18923820;22:18900669-19747220;22:18900669-19770565;22:18900689-21351637;22:18900896-18923882;22:18901005-21408430;22:18905110-19015451;22:18910311-18923800;22:18910311-18923820;22:18910311-19770565;22:18912232-20287208;22:18912404-21431174;22:18912871-21431174;22:18915348-21463730;22:18916828-20311858;22:18916829-20312661;22:18916829-21041014;22:18916829-21049800;22:18916843-19004772;22:18916843-20310938;22:18916843-20311858;22:18916843-20312661;22:18916843-20716903;22:18916843-20767095;22:18916843-21011216;22:18916843-21033371;22:18916843-21075592;22:18916844-20311858;22:18916844-21033401;22:18916844-21075592;22:18918742-20311922;22:18919580-21460595;22:18919943-20311763;22:18919943-20659606;22:18919943-20708934;22:18919943-21025713;22:18919943-21440514;22:18922152-21449911;22:18938162-20229017;22:18938162-20996250;22:18938162-21455556;22:18962314-21455556;22:18973253-21435405;22:18999804-21455499;22:18999804-21455556;22:19016664-21463730;22:19023802-21440455;22:19023802-21440514;22:19035018-21461811;22:19035324-21464119;22:19036287-21208284;22:19058830-21440514;22:19156118-19529130;22:19163094-19166249;22:19163624-19770565;22:19184001-21416024;22:19336599-21208828;22:19470352-19481849;22:19647906-21153690;22:19709401-21142058;22:19709436-19712313;22:19709952-19963280;22:19710419-21142058;22:19711062-19712294;22:19711829-19711877;22:19743227-19755855;22:19743425-19747210;22:19743425-19754400;22:19743425-19770565;22:19743474-19747220;22:19747168-19754390;22:19748301-19754857;22:19748451-19748647;22:20008633-20054687;22:20027161-20063237;22:20028564-20053554;22:20028990-20062723;22:20028993-20062955;22:20029136-20062954;22:20029701-20062756;22:20030823-20041691;22:20030823-20053554;22:20030859-20052185;22:20030879-20049206;22:20030879-20052185;22:20036383-20045782;22:20036384-20045781;22:20036385-20045784;22:20039969-20043556;22:20708891-21407690;22:20718171-21427936;22:20733496-21463730;22:20745763-21460658;22:20754408-21440515;22:20754408-21457610;22:20754423-21461752;22:20778874-20792112;22:20921343-21459713;22:21061979-21213099;22:21062169-21463730;22:21062567-21463730;22:21065883-21455556;22:21067570-21414817;22:21069074-21463730;22:21074921-21440514;22:21075576-21454721;22:21081285-21457610;22:21128401-21142008;22:21213295-21245502;22:21335907-21346541;22:21336586-21353321;22:21336662-21337398;22:21336662-21351637;22:21348908-21348985 CLN:1349334;dbVar:nssv17974796 22:21337344-21337343;22:21337344-21337456 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) dbVar:nssv15161990;dbVar:nssv15139753;dbVar:nssv15150031;dbVar:nssv15150491;dbVar:nssv15146973;dbVar:nssv15135173;dbVar:nssv15137211;dbVar:nssv15129128;dbVar:nssv15161991;dbVar:nssv15161992;dbVar:nssv15164031;dbVar:nssv16254742;dbVar:nssv16297047;dbVar:nssv15151140;nssv16207460;dbVar:nssv15141953;dbVar:nssv15156366;nssv15772157;dbVar:nssv17976875;dbVar:nssv16207463;dbVar:nssv16296938;dbVar:nssv16207464;dbVar:nssv15774756;dbVar:nssv18329565;dbVar:nssv15149512;nssv15150794;dbVar:nssv15139758;dbVar:nssv15755803;dbVar:nssv15774287;dbVar:nssv15605979;dbVar:nssv15139756;dbVar:nssv15605980;dbVar:nssv15137771;dbVar:nssv15132295;dbVar:nssv15133039;dbVar:nssv15133301;dbVar:nssv15132518;dbVar:nssv15134365;dbVar:nssv15146613;dbVar:nssv15133111;dbVar:nssv15147269;dbVar:nssv15121201;dbVar:nssv15136264;dbVar:nssv15605803;dbVar:nssv15605804;dbVar:nssv16736606;dbVar:nssv15128891;dbVar:nssv15126571;dbVar:nssv15128500;dbVar:nssv16254735;dbVar:nssv15140068;dbVar:nssv15137505;dbVar:nssv15128758;dbVar:nssv15152138;dbVar:nssv15154014;dbVar:nssv15755815;dbVar:nssv15755817;dbVar:nssv16255668;dbVar:nssv18329661;dbVar:nssv18330205;dbVar:nssv15156359;dbVar:nssv15142823;dbVar:nssv15140066;dbVar:nssv15133432;dbVar:nssv15605805;dbVar:nssv15605808;dbVar:nssv15605806;dbVar:nssv15132858;dbVar:nssv15133520;dbVar:nssv15132127;dbVar:nssv15133128;dbVar:nssv15136566;dbVar:nssv15133389;dbVar:nssv15140044;dbVar:nssv15133925;dbVar:nssv15138146;dbVar:nssv15133393;nssv15139545;dbVar:nssv15135020;dbVar:nssv15132566;dbVar:nssv15164039;dbVar:nssv17955656;dbVar:nssv15132423;dbVar:nssv15132330;dbVar:nssv15126758;dbVar:nssv15127771;dbVar:nssv15126436;dbVar:nssv17649918;dbVar:nssv15162011;dbVar:nssv15125959;dbVar:nssv17955842;dbVar:nssv15139556;dbVar:nssv15122631;dbVar:nssv15123767;dbVar:nssv15162014;dbVar:nssv15143627;dbVar:nssv16865904;dbVar:nssv15123759;dbVar:nssv17650003;dbVar:nssv15755805;dbVar:nssv15132167;dbVar:nssv15133526;dbVar:nssv15162019;dbVar:nssv15145463;dbVar:nssv15145234;dbVar:nssv16207634;dbVar:nssv15605810;dbVar:nssv15605809;dbVar:nssv18842027;dbVar:nssv18842024;nssv18842046;dbVar:nssv18326316;dbVar:nssv15139749;dbVar:nssv15140369;dbVar:nssv15136643;dbVar:nssv15131931;nssv15133075;dbVar:nssv15131925;dbVar:nssv15134715;dbVar:nssv15132426;TS3:ISCA-37446;dbVar:nssv15605828;dbVar:nssv15153271;dbVar:nssv17976874;dbVar:nssv15139887;dbVar:nssv15137698;dbVar:nssv15139242;dbVar:nssv18329574;dbVar:nssv18329591;dbVar:nssv17976884;dbVar:nssv15132247;nssv15139527;dbVar:nssv15131997;nssv15139348;dbVar:nssv15137835;dbVar:nssv15132026;nssv15139977;dbVar:nssv15127741;dbVar:nssv18830785;dbVar:nssv15154013;dbVar:nssv16254573;dbVar:nssv16255670;dbVar:nssv15133914;dbVar:nssv15145464;dbVar:nssv15755306;dbVar:nssv15132169;dbVar:nssv17976883;dbVar:nssv16207466;dbVar:nssv15132044;dbVar:nssv15139694;dbVar:nssv15120579;dbVar:nssv15133646;dbVar:nssv15139596;dbVar:nssv15132083;dbVar:nssv18330192;dbVar:nssv15139716;dbVar:nssv15135998;dbVar:nssv15139748 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7.30;22.85;7.31;7.30;7.30;3.96;33.54;0.82;39.86;7.32;7.32;7.34;54.67;1.08;41.40;41.41;51.11;47.57;26.78;23.86;7.49;1.08;7.49;57.40;42.19;43.53;40.40;43.01;46.89;5.65;48.62;54.10;54.78;62.54;34.92;7.61;31.55;7.61;11.71;47.16;89.81;89.86;84.15;83.29;78.51;7.88;83.04;84.41;90.95;78.43;91.08;91.10;91.25;78.36;91.21;85.21;81.56;85.23;91.25;91.25;91.30;91.31;91.08;91.31;91.28;78.78;91.62;90.35;60.55;85.87;90.14;91.61;91.67;90.35;85.65;18.95;92.10;44.45;92.97;93.09;89.33;85.66;80.20;97.92;98.08;98.05;98.94;99.08;98.81;99.34;99.24;99.43;99.69;56.67;99.81;99.82;98.25;96.18;99.87;99.80;93.79;99.84;99.84;99.91;99.94;99.96;99.96;99.98;99.98;98.42;98.42;96.35;88.17;88.42;99.94;84.78;99.94;88.20;99.94;99.94;99.94;88.38;88.21;99.94;98.40;96.31;88.29;88.06;96.31;99.97;99.94;99.94;66.78;96.11;84.09;99.96;91.60;99.79;16.39;95.23;94.50;26.11;91.39;33.45;31.88;29.84;90.26;1.24;2.81 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) dbVar:nssv15134634;dbVar:nssv16208592;dbVar:nssv16208593;dbVar:nssv15141423;dbVar:nssv15132388;dbVar:nssv15128094;dbVar:nssv15132068;dbVar:nssv15133055;dbVar:nssv18787557;nssv18791888;dbVar:nssv16207650;dbVar:nssv15153272;dbVar:nssv15135754;dbVar:nssv15133431;nssv15139986;dbVar:nssv15125556;dbVar:nssv15126775;dbVar:nssv15133864;dbVar:nssv15755811;dbVar:nssv15755813;dbVar:nssv18326404;dbVar:nssv15126915;dbVar:nssv15128185;dbVar:nssv15145459;dbVar:nssv15145460;dbVar:nssv15138286;dbVar:nssv15154015;nssv18326430;dbVar:nssv18330227;dbVar:nssv17976889;dbVar:nssv17976891;dbVar:nssv15153273;dbVar:nssv18330460;dbVar:nssv17976888;dbVar:nssv15145461;dbVar:nssv15138328;dbVar:nssv17976880;dbVar:nssv15154017;dbVar:nssv18329577;dbVar:nssv15140316;dbVar:nssv15133433;dbVar:nssv18326382;dbVar:nssv17955872;dbVar:nssv15133434;dbVar:nssv16255835;dbVar:nssv15132708;dbVar:nssv15134184;dbVar:nssv15132128;nssv15139349;dbVar:nssv15134982;dbVar:nssv15135883;dbVar:nssv15133394;nssv16091745;dbVar:nssv15132006;nssv15139990;dbVar:nssv15137884;dbVar:nssv15133435;dbVar:nssv18792765;dbVar:nssv15135454;dbVar:nssv15133438;nssv15140028;dbVar:nssv15132230;nssv15139684;dbVar:nssv15132655;nssv15139976;dbVar:nssv15136079;dbVar:nssv15132507;nssv15139975;dbVar:nssv15132389;dbVar:nssv17976452;dbVar:nssv15164040;dbVar:nssv15137872;dbVar:nssv16254738;dbVar:nssv15127636;dbVar:nssv15128166;dbVar:nssv15127784;dbVar:nssv16208773;dbVar:nssv15145231;dbVar:nssv15145040;dbVar:nssv18786377;dbVar:nssv15145232;dbVar:nssv15139558;dbVar:nssv15163611;dbVar:nssv16215256;dbVar:nssv15128065;dbVar:nssv17955534;dbVar:nssv15163612;dbVar:nssv15145462;dbVar:nssv15145233;dbVar:nssv15163613;dbVar:nssv15132390;dbVar:nssv15163614;dbVar:nssv15162012;dbVar:nssv15139255;dbVar:nssv15162013;dbVar:nssv15162015;dbVar:nssv17976449;dbVar:nssv17955549;dbVar:nssv15162016;nssv16215222;nssv16215239;nssv16865884;dbVar:nssv15162017;dbVar:nssv15164042;dbVar:nssv15143222;dbVar:nssv15162018;dbVar:nssv16865881;dbVar:nssv15164043;dbVar:nssv15755824;dbVar:nssv17650004;dbVar:nssv17649858;dbVar:nssv16297048;dbVar:nssv17517456;dbVar:nssv15141730;dbVar:nssv15126093;dbVar:nssv15125439;dbVar:nssv15755804;dbVar:nssv15121171;dbVar:nssv15133439;dbVar:nssv15132392;dbVar:nssv15132132;dbVar:nssv15133440;dbVar:nssv15136213;dbVar:nssv15605874;nssv15605879;dbVar:nssv17976881;dbVar:nssv15119655;dbVar:nssv18842051;dbVar:nssv17173212;dbVar:nssv17173202;dbVar:nssv18792648;dbVar:nssv16091922;dbVar:nssv15143862;dbVar:nssv17976675;dbVar:nssv18830700;dbVar:nssv18786378;dbVar:nssv18786379;dbVar:nssv15140698;dbVar:nssv15139562;dbVar:nssv15140747;dbVar:nssv15140051;dbVar:nssv15133317;nssv15143213;dbVar:nssv15131926;dbVar:nssv15605919;dbVar:nssv15755810;HI3:ISCA-37446;dbVar:nssv15139269;dbVar:nssv15137499;dbVar:nssv15138712;dbVar:nssv18330193;dbVar:nssv15139855;nssv18326386;dbVar:nssv15139854;nssv15153270;dbVar:nssv15154016;nssv17976890;dbVar:nssv15152149;dbVar:nssv15137491;dbVar:nssv18330326;dbVar:nssv18329598;dbVar:nssv18330218;dbVar:nssv15141653;dbVar:nssv15142207;dbVar:nssv15755814;dbVar:nssv15132248;nssv15139690;dbVar:nssv15134351;dbVar:nssv15132463;nssv15139699;dbVar:nssv15132523;dbVar:nssv15155695;dbVar:nssv18831006;dbVar:nssv17976279;dbVar:nssv15139289;dbVar:nssv15139467;dbVar:nssv15142401;dbVar:nssv15134356;dbVar:nssv18330006;dbVar:nssv15137446;dbVar:nssv17976741;dbVar:nssv15153268;dbVar:nssv15156357;dbVar:nssv18842023;dbVar:nssv15132608;dbVar:nssv15145465;dbVar:nssv15145466;dbVar:nssv15145235;dbVar:nssv15772502;dbVar:nssv15154008;dbVar:nssv15156354;dbVar:nssv15755308;nssv15755309;dbVar:nssv15155696;dbVar:nssv18330327;dbVar:nssv18326378;dbVar:nssv18329593;dbVar:nssv18330275;dbVar:nssv18329587;dbVar:nssv18329620;dbVar:nssv17956682;dbVar:nssv15776637;dbVar:nssv17649919;dbVar:nssv18326434;dbVar:nssv18326440;dbVar:nssv15120712;dbVar:nssv15139564;dbVar:nssv16208598;dbVar:nssv15755307;dbVar:nssv15156347;dbVar:nssv18330257;dbVar:nssv15755311;dbVar:nssv17957425;dbVar:nssv15121593;dbVar:nssv15154007;dbVar:nssv15134856;dbVar:nssv18330729;dbVar:nssv18330196;dbVar:nssv17977102 22:16087695-19363465;22:16888900-20125005;22:16888900-20730144;22:16888901-20026751;22:17019016-20718227;22:17177912-19892632;22:17397499-20311763;22:17397499-20708934;22:17565983-20052185;22:18475386-23764120;22:18626109-21800797;22:18628020-21464119;22:18628020-21505417;22:18628133-21561468;22:18628133-21883879;22:18628148-21440515;22:18631365-21800471;22:18636750-21800471;22:18639781-21910280;22:18641480-21712996;22:18641480-21722262;22:18642647-21717111;22:18642647-21742277;22:18644242-21465662;22:18644543-21465659;22:18644544-21800797;22:18644791-21798907;22:18644791-21800471;22:18644791-21915509;22:18644792-21041014;22:18645354-21800797;22:18646694-21631412;22:18648857-21465662;22:18648867-21798907;22:18648867-21800797;22:18648868-21465659;22:18650665-21440455;22:18650676-21455556;22:18655799-21726191;22:18660136-21737597;22:18660554-21455556;22:18661700-21457610;22:18661700-21505445;22:18661725-20659606;22:18661725-21440514;22:18661725-21461811;22:18661725-21464119;22:18661725-21505417;22:18661725-21561514;22:18661725-21809009;22:18671630-21536841;22:18689517-21588615;22:18706002-20311763;22:18706002-20659606;22:18706002-21025713;22:18706002-21440514;22:18706002-21464119;22:18706002-21505417;22:18706002-21809009;22:18718029-21326012;22:18728119-21811991;22:18765086-21661435;22:18765103-21661435;22:18788000-21065894;22:18788000-21468378;22:18788000-21684798;22:18789966-21591197;22:18790223-21697998;22:18820423-21477877;22:18834446-21414817;22:18834453-21575702;22:18844633-21463730;22:18844633-21608479;22:18844633-21797812;22:18848021-21468378;22:18861210-21630630;22:18861749-21463730;22:18868433-20331055;22:18868433-21477877;22:18872509-21465050;22:18874457-20306317;22:18875870-21470273;22:18875957-21466715;22:18876631-21465659;22:18878410-21465050;22:18878410-21907671;22:18884515-21484289;22:18884715-21483289;22:18886916-21463730;22:18886916-21465050;22:18886916-21467387;22:18886916-21811991;22:18889491-20312668;22:18889491-21463730;22:18889491-21466715;22:18889491-21917190;22:18889572-21464697;22:18889694-21465485;22:18889951-21466053;22:18889970-21462658;22:18890043-21440455;22:18890163-21464056;22:18890222-21561468;22:18890265-21540347;22:18890272-18999862;22:18890272-20328113;22:18890272-20659606;22:18890272-21394730;22:18890272-21461811;22:18891527-21796215;22:18892576-21460220;22:18893345-21650280;22:18893736-18924066;22:18893839-20307561;22:18893883-21563420;22:18893883-21571027;22:18893887-21386103;22:18893888-18923800;22:18893889-18973671;22:18893889-21414817;22:18893889-21481925;22:18893889-21570386;22:18894079-21414817;22:18894340-20255110;22:18894340-20255154;22:18894340-21440455;22:18894340-21440514;22:18894836-21505417;22:18894836-21561514;22:18900756-21800277;22:18912232-21465672;22:18912232-21465672;22:18916828-21465662;22:18916829-21465659;22:18916829-21465662;22:18916829-21800797;22:18916843-21465659;22:18916843-21465662;22:18916843-21798907;22:18916843-21804716;22:18916843-21804886;22:18916844-21465659;22:18916844-21800471;22:18916844-21915509;22:18917048-21465659;22:18917048-21465662;22:18919478-21800471;22:18919943-21505417;22:18919943-21505558;22:18919943-21561514;22:18919943-21809009;22:18935464-21465659;22:18936190-21464809;22:18936191-21464809;22:18970562-21465662;22:19024657-21465659;22:19024658-21465662;22:19029603-21505417;22:19046678-21465662;22:20279767-23822986;22:20310411-21804886;22:20311904-21465659;22:20311904-21800797;22:20609933-21576553;22:20659548-21561514;22:20703817-21503296;22:20703817-21631412;22:20713276-21477877;22:20716877-21465659;22:20716877-21465662;22:20716877-21798907;22:20716877-21800471;22:20716877-23819697;22:20716878-21465659;22:20725309-21465659;22:20725310-21804563;22:20725319-21800797;22:20728958-21798907;22:20728958-21800797;22:20728958-21915096;22:20729389-21465662;22:20730997-21465342;22:20732809-21465659;22:20732809-21800471;22:20733428-21505417;22:20749626-23972878;22:21029656-22481498;22:21033587-21800471;22:21049800-21465662;22:21049801-21465662;22:21059670-21800471;22:21059670-21804716;22:21065883-21937680;22:21075676-21465662;22:21081261-24593820;22:21092649-21465662;22:21188488-21804597;22:21462567-22962196 14.31;38.01;47.78;36.07;49.29;36.76;48.62;54.78;46.55;48.58;80.93;90.59;89.29;87.59;78.92;90.52;81.07;81.21;78.56;83.65;83.40;83.57;82.89;91.06;91.07;81.40;81.46;81.42;78.55;89.57;81.42;86.08;91.21;81.56;81.51;91.21;91.25;91.30;83.68;83.49;91.62;91.66;90.35;88.33;91.61;91.67;91.68;90.35;88.60;81.63;89.67;88.62;88.24;90.33;91.86;93.09;93.15;91.78;82.80;93.22;83.31;88.71;88.71;95.31;95.86;88.69;91.72;88.36;96.68;97.66;93.73;98.08;92.96;87.00;98.05;92.77;98.73;98.19;98.46;99.10;98.58;99.03;99.17;99.24;99.33;84.82;98.83;98.87;99.69;99.66;99.57;87.84;99.62;99.79;99.69;84.86;99.77;99.75;99.74;99.81;99.81;99.82;96.18;96.95;95.84;99.68;99.74;99.82;99.82;88.45;99.91;93.19;96.37;99.93;96.24;95.97;99.96;96.83;98.81;99.96;99.28;95.99;99.97;99.96;99.96;99.98;99.98;98.42;96.35;88.41;99.94;99.94;99.94;99.94;99.94;88.33;99.94;99.94;88.38;88.21;88.20;99.94;88.34;84.95;99.94;99.94;88.33;98.40;98.40;96.31;88.06;99.94;99.97;99.97;99.94;99.94;99.94;98.33;99.94;33.43;77.20;99.87;77.39;88.37;89.20;95.10;81.96;98.20;99.79;99.79;69.06;68.96;24.08;99.79;99.79;68.46;68.70;68.71;68.59;61.98;99.79;99.83;99.79;68.50;94.65;22.17;29.92;56.14;99.63;99.63;54.60;54.29;45.68;99.60;10.90;99.59;44.74;0.10 382 2-hydroxyglutaric_aciduria;Abnormality_of_metabolism/homeostasis;Acute_rhabdomyolysis;Autism_spectrum_disorder;Bardet-Biedl_syndrome;Bernard_Soulier_syndrome;CEDNIK_syndrome;CLDN5-related_neurodevelopmental_disorder;Cardiac_arrhythmia;Cardiovascular_phenotype;D,L-2-hydroxyglutaric_aciduria;DiGeorge_syndrome;Episodic_flaccid_weakness;Fetal_cystic_hygroma;Hereditary_cancer-predisposing_syndrome;Hypomyelinating_leukodystrophy_2;Inborn_genetic_diseases;Intellectual_disability;LZTR1-related_condition;LZTR1-related_disorders;Macrothrombocytopenia;Meier-Gorlin_syndrome_7;Metabolic_crises_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration;Mild_macrothrombocytopenia;Myasthenic_syndrome,_congenital,_23,_presynaptic;Noonan_syndrome;Noonan_syndrome_10;Noonan_syndrome_2;Noonan_syndrome_and_Noonan-related_syndrome;PI4KA-Related_Disorders;Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis;Proline_dehydrogenase_deficiency;RASopathy;Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome;SLC25A1-related_condition;Schwannomatosis;Schwannomatosis_2;See_cases;Seizure;Short_stature;Spastic_paraplegia_84,_autosomal_recessive;Thrombocytopenia;Van_den_Ende-Gupta_syndrome;Velocardiofacial_syndrome IMH 22:17036164-22613666 0.1686 22:18667571-18994853 DDD:56146;22:18877788-19033532 dgv543n27;chr22:18884850-18926400 dbVar;chr22:18897380-18897885 dbVar;chr22:18905003-18905655 dbVar;chr22:18908214-18916245 dbVar;22:18912158-18998999 1000g;chr22:18915430-18916245 dbVar;chr22:18920000-18927000 dbVar;chr22:18924000-18940000 dbVar;chr22:18928500-18933600 dbVar;chr22:18936140-18938323 dbVar;chr22:18958405-18962239 dbVar;chr22:18976999-19012000 dbVar;chr22:18986988-18991101 dbVar;chr22:18995665-18996607 dbVar;chr22:19006777-19007455 dbVar;chr22:19015177-19088691 dbVar;chr22:19030334-19103057 dbVar;chr22:19050376-19063398 dbVar... 22:18655861-19006984 dgv99e203;22:18876429-19006125 DDD:56173;22:18882313-19012377 DDD:56174;22:18884850-18926400 gnomAD-SV_v2.1_DUP_22_50647;chr22:18897885-18898551 dbVar;chr22:18908116-18908214 dbVar;chr22:18912157-18998999 dbVar;22:18912158-18998999 esv3647250;chr22:18917245-18921869 dbVar;chr22:18922181-18922289 dbVar;22:18924000-18940000 gnomAD-SV_v2.1_DUP_22_50652;chr22:18932850-18939000 dbVar;chr22:18946999-18963000 dbVar;chr22:18959589-18974015 dbVar;chr22:18979229-18981697 dbVar;chr22:18991101-19003643 dbVar;chr22:18998500-19027500 dbVar;chr22:19006877-19007455 dbVar;chr22:19023959-19024069 dbVar;chr22:19031999-19054000 dbVar... chr22:18884925-18927000 dbVar;chr22:18912157-18998999 dbVar;chr22:18920358-18923595 dbVar;chr22:18934402-18934486 dbVar;chr22:18938445-18969406 dbVar;chr22:18961454-18962214 dbVar;chr22:18977575-18977640 dbVar;chr22:18977576-18977640 dbVar;chr22:18979860-18979920 dbVar;chr22:18984228-18985696 dbVar;chr22:18994879-18998062 dbVar;chr22:18997267-19009786 dbVar;chr22:19008418-19009937 dbVar;chr22:19041070-19041296 dbVar;chr22:19050181-19050386 dbVar;chr22:19063483-19063613 dbVar;22:19063767-19063900 gnomAD-SV_v2.1_DEL_22_181349;chr22:19087245-19091323 dbVar;chr22:19091546-19099675 dbVar;chr22:19099906-19100607 dbVar... chr22:18884924-19013000 dbVar;chr22:18902898-18902992 dbVar;chr22:18912910-18913458 dbVar;chr22:18929400-18935100 dbVar;chr22:18934999-21466000 dbVar;chr22:18943458-18943555 dbVar;chr22:18961457-18962214 dbVar;22:18977576-18977640 1000g;22:18977576-18977640 gnomAD-SV_v2.1_DEL_22_181334;chr22:18980769-18984165 dbVar;chr22:18990004-18990064 dbVar;chr22:18997195-19009720 dbVar;chr22:19006733-19006786 dbVar;chr22:19008684-19010259 dbVar;chr22:19050028-19050086 dbVar;chr22:19054635-19055096 dbVar;chr22:19063767-19063900 dbVar;chr22:19085539-19085825 dbVar;chr22:19091504-19102801 dbVar;22:19098616-19100995 dgv1286e212... 325921;868289;16521;344527;344990;336054;337864;1189150;2526221;921730;347979;681737;674280;676645;64889;73372;74042;14568;552226;393066;393067;606697;1010990;1011193;1011198;1011201;1011203;988609;1919439;2386524;1215466;3038163;334661;1009921;347980;540341;366288;357345;101360;153623;1311717;1782887;2534354;2206583;844141;1573312;666970;81317;557557;612401;227094;... loss;gain 0.445 0.320 22:18894850-18894969 L1ME2z 22:21464126-21464591 L1MA7 22:18889511-18912230 1 97.89 -0.807902299547855 -1.20830830104818 -0.791505674827999 2.94244265911253 5.29477062168781 606810;190315;603465;138720;602054;606448;116790;616830;605566;613619;600286;142360;604202;600574 yes yes 0 1.0000e+00 1.0000e+00 1.9 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_loss_source, +1.00);3C (76 genes, +0.90);5F (+0.00) 5 +22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA full q11.21 DGCR6;PRODH;LOC122455341;DGCR5;FAM246C;DGCR2;DGCR11;ESS2;TSSK2;GSC2;LINC01311;SLC25A1;CLTCL1;HIRA;MRPL40;C22orf39;UFD1;CDC45;CLDN5;LINC00895;SEPTIN5;SEPT5-GP1BB;GP1BB;TBX1;GNB1L;RTL10;TXNRD2;COMT;MIR4761;ARVCF;TANGO2;MIR185;DGCR8;MIR3618;MIR1306;TRMT2A;MIR6816;RANBP1;SNORA77B;ZDHHC8;CCDC188;LINC02891;LINC00896;RTN4R;MIR1286;DGCR6L;FAM230A;GGTLC3;TMEM191B;PI4KAP1;RIMBP3;FAM246B;FAM230J;FAM230G;ZNF74;SCARF2;KLHL22;MED15;POM121L4P;TMEM191A;PI4KA;SERPIND1;SNAP29;CRKL;LINC01637;AIFM3;LZTR1;THAP7;THAP7-AS1;TUBA3FP;P2RX6;SLC7A4;MIR649;P2RX6P;LRRC74B;BCRP2 FAM230F LOC102724728 76 ABL1 (morbid/RE=mTL_miRNA);ACTN4 (morbid/RE=mTL_miRNA);ACVR2B (morbid/RE=mTL_miRNA);ADA2 (morbid/RE=ABC_enhancer);ADAR (morbid/RE=mTL_miRNA);ADH5 (morbid/RE=mTL_miRNA);AFF2 (HI=3/morbid/RE=mTL_miRNA);AGO1 (morbid/RE=mTL_miRNA);AGO2 (morbid/RE=mTL_miRNA);AHI1 (morbid/RE=mTL_miRNA);AKT1 (morbid/RE=mTL_miRNA);ALG1 (morbid/RE=mTL_miRNA);AMH (morbid/RE=mTL_miRNA);APCDD1 (morbid/RE=mTL_miRNA);AR (HI=3/morbid/RE=mTL_miRNA);ARID1A (HI=3/morbid/RE=mTL_miRNA);ASH1L (HI=3/morbid/RE=mTL_miRNA);ATM (HI=3/morbid/RE=mTL_miRNA);ATP6AP1 (morbid/RE=mTL_miRNA);ATP6V0A2 (morbid/RE=mTL_miRNA);ATP6V1E1 (morbid/RE=ABC_enhancer);ATR (morbid/RE=mTL_miRNA);B4GALT1 (morbid/RE=mTL_miRNA);BACH1 (morbid/RE=mTL_miRNA);BAP1 (HI=3/morbid/RE=mTL_miRNA);BBS5 (morbid/RE=mTL_miRNA);BCL10 (morbid/RE=mTL_miRNA);BMPR1A (HI=3/morbid/RE=mTL_miRNA);BNC2 (morbid/RE=mTL_miRNA);BRD4 (morbid/RE=mTL_miRNA);C3 (morbid/RE=mTL_miRNA);CACNA1C (morbid/RE=mTL_miRNA);CAD (morbid/RE=mTL_miRNA);CALM3 (morbid/RE=mTL_miRNA);CAPN15 (morbid/RE=mTL_miRNA);CASP14 (morbid/RE=mTL_miRNA);CBL (morbid/RE=mTL_miRNA);CCDC134 (morbid/RE=mTL_miRNA);CCND2 (morbid/RE=mTL_miRNA);CCNQ (morbid/RE=mTL_miRNA);CDC42 (morbid/RE=mTL_miRNA);CEP104 (morbid/RE=mTL_miRNA);CERS1 (morbid/RE=mTL_miRNA);CHRDL1 (HI=3/morbid/RE=mTL_miRNA);CLCC1 (morbid/RE=mTL_miRNA);CLCN7 (morbid/RE=mTL_miRNA);CLDN16 (morbid/RE=mTL_miRNA);CLPB (morbid/RE=mTL_miRNA);CNBP (morbid/RE=mTL_miRNA);CNNM4 (morbid/RE=mTL_miRNA)... 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) TS3:ISCA-37433;dbVar:nssv15121202;dbVar:nssv15132168;dbVar:nssv15132429;dbVar:nssv15132430;dbVar:nssv15132553;dbVar:nssv15132642;nssv15139997;dbVar:nssv15132749;dbVar:nssv15133139;dbVar:nssv15133442;dbVar:nssv15133527;dbVar:nssv15133528;dbVar:nssv15133531;dbVar:nssv15133921;dbVar:nssv15134211;dbVar:nssv15134239;dbVar:nssv15134353;dbVar:nssv15136015;dbVar:nssv15137439;dbVar:nssv15138177;dbVar:nssv15138869;dbVar:nssv15140282;dbVar:nssv15141369;dbVar:nssv15153269;dbVar:nssv15156361;dbVar:nssv15605811;dbVar:nssv15605831;dbVar:nssv15605876;dbVar:nssv15755816;dbVar:nssv16207465;dbVar:nssv16736612;dbVar:nssv16736616;dbVar:nssv18830899;dbVar:nssv18830992 22:18894836-20311784;22:18894836-21461752;22:18894836-21464119;22:18896973-21440514;22:18900756-21075586;22:18908833-21358123;22:18909039-21440514;22:18909045-21464119;22:18912232-20287208;22:18912515-21431174;22:18916828-21050078;22:18916829-20312661;22:18916843-20311810;22:18916843-20311858;22:18916843-20312661;22:18919943-20311763;22:18919943-20659606;22:18919943-20708934;22:18919943-21440514;22:18923899-21431174;22:18937381-21459713;22:18938162-21455556;22:18950767-21455556;22:18970562-21040836;22:18973253-21435405;22:19168759-20942862;22:20895156-21374512;22:20958985-21379958;22:21044197-21440455;22:21045039-21455556;22:21065883-21440455;22:21081261-21440455;22:21086707-21445960;22:21300291-21331188 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1);Bernard-Soulier syndrome, type B, 231200 (3) AR;Giant platelet disorder, isolated, 231200 (3) AR;Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) AR;Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) AR;Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3) AR;Conotruncal anomaly face syndrome, 217095 (3);DiGeorge syndrome, 188400 (3) AD;Tetralogy of Fallot, 187500 (3) AD;Velocardiofacial syndrome, 192430 (3) AD;Gastrointestinal defects and immunodeficiency syndrome 2, 619708 (3) AR;Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3) AR;Spastic paraplegia 84, AR, 619621 (3) AR;Hyperprolinemia, type I, 239500 (3) AR;Schizophrenia, susceptibility to, 4, 600850 (3) AD;Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3) AR;Noonan syndrome 10, 616564 (3) AD;Noonan syndrome 2, 605275 (3) AR;Schwannomatosis-2, susceptibility to, 615670 (3) AD;Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Cardiac_arrhythmia|Seizure|Acute_rhabdomyolysis|Episodic_flaccid_weakness|Intellectual_disability;Thrombophilia 10 due to heparin cofactor II deficiency, 612356 (3) AD;Van den Ende-Gupta syndrome, 600920 (3) AR;|DiGeorge_syndrome HP:0000730;HP:0001249;HP:0001250;HP:0001267;HP:0001275;HP:0001286;HP:0001303;HP:0001656;HP:0001661;HP:0001665;HP:0001666;HP:0001687;HP:0001721;HP:0002122;HP:0002125;HP:0002182;HP:0002192;HP:0002279;HP:0002306;HP:0002316;HP:0002348;HP:0002382;HP:0002386;HP:0002391;HP:0002402;HP:0002417;HP:0002430;HP:0002431;HP:0002432;HP:0002434;HP:0002437;HP:0002458;HP:0002466;HP:0002479;HP:0002482;HP:0002499;HP:0002543;HP:0002794;HP:0003752;HP:0003767;HP:0004351;HP:0005158;HP:0006833;HP:0006997;HP:0007154;HP:0007176;HP:0007180;HP:0008942;HP:0010520;HP:0011675 CLN:226591;CLN:2871255;CLN:959024;HI3:ISCA-37433;dbVar:nssv15119864;dbVar:nssv15120710;dbVar:nssv15124351;dbVar:nssv15124515;dbVar:nssv15129189;dbVar:nssv15130834;dbVar:nssv15130929;dbVar:nssv15131088;dbVar:nssv15131611;dbVar:nssv15132323;nssv15139981;dbVar:nssv15132334;dbVar:nssv15132747;dbVar:nssv15132748;dbVar:nssv15132933;dbVar:nssv15132934;dbVar:nssv15132935;dbVar:nssv15132939;dbVar:nssv15133099;dbVar:nssv15133185;dbVar:nssv15133186;dbVar:nssv15133443;dbVar:nssv15133817;dbVar:nssv15134350;nssv15139984;dbVar:nssv15134354;dbVar:nssv15134360;dbVar:nssv15134361;dbVar:nssv15134635;dbVar:nssv15134703;dbVar:nssv15134820;dbVar:nssv15134849;dbVar:nssv15136233;dbVar:nssv15137726;dbVar:nssv15137759;dbVar:nssv15137802;dbVar:nssv15138106;dbVar:nssv15138475;dbVar:nssv15139405;dbVar:nssv15139434;dbVar:nssv15139445;nssv15774763;dbVar:nssv15139759;dbVar:nssv15140043;dbVar:nssv15140048;dbVar:nssv15140057;dbVar:nssv15141198;dbVar:nssv15141722;dbVar:nssv15142496;dbVar:nssv15143197;dbVar:nssv15143645;dbVar:nssv15144279;dbVar:nssv15144449;dbVar:nssv15153165;dbVar:nssv15154011;dbVar:nssv15155693;dbVar:nssv15156360;dbVar:nssv15162020;dbVar:nssv15162021;dbVar:nssv15605807;dbVar:nssv15605829;dbVar:nssv15605830;nssv16216546;dbVar:nssv15605834;dbVar:nssv15755310;dbVar:nssv15755712;dbVar:nssv15755812;dbVar:nssv15770037;dbVar:nssv15770783;dbVar:nssv15770877;dbVar:nssv15772938;nssv15773614;nssv15775115;nssv15775184;nssv15775592;dbVar:nssv15772982;dbVar:nssv15775129;dbVar:nssv15776509;dbVar:nssv15776863;dbVar:nssv15776865;dbVar:nssv15776871;dbVar:nssv16208595;dbVar:nssv16208596;dbVar:nssv16212111;dbVar:nssv16213307;dbVar:nssv16213808;dbVar:nssv16214784;dbVar:nssv16215255;dbVar:nssv16215257;dbVar:nssv16216543;dbVar:nssv16216544;nssv8639845;nssv15161831;dbVar:nssv16254574;dbVar:nssv16254739;dbVar:nssv16255831;dbVar:nssv16736634;dbVar:nssv17171460;nssv17974163;dbVar:nssv17171461;dbVar:nssv17171462;dbVar:nssv17171559;dbVar:nssv17171582;dbVar:nssv17171772;dbVar:nssv17649936;dbVar:nssv17649973;dbVar:nssv17955605;dbVar:nssv17955606;dbVar:nssv17955868;dbVar:nssv17970829;dbVar:nssv17971092;dbVar:nssv17971094;dbVar:nssv17971356;dbVar:nssv17971399;dbVar:nssv17977042;dbVar:nssv18329601;dbVar:nssv18329824;dbVar:nssv18330264;dbVar:nssv18330322;dbVar:nssv18330820;dbVar:nssv18786380;dbVar:nssv18790095;dbVar:nssv18792883;dbVar:nssv18841927;nssv18830898;dbVar:nssv8639589;nssv15122532;morbid:GP1BB;morbid:LZTR1;morbid:PI4KA;morbid:PRODH;morbid:SCARF2;morbid:SERPIND1;morbid:SLC25A1;morbid:SNAP29;morbid:TANGO2;morbid:TBX1 22:18894836-20238206;22:18894836-20311763;22:18894836-20659606;22:18894836-21440514;22:18894836-21461752;22:18894836-21461811;22:18894836-21464119;22:18896973-20311763;22:18896973-21382953;22:18896973-21440514;22:18899288-18925066;22:18900294-18924066;22:18900295-18923806;22:18900443-21440514;22:18900669-18923820;22:18900669-19747220;22:18900669-19770565;22:18900689-21351637;22:18900896-18923882;22:18901005-21408430;22:18905110-19015451;22:18910311-18923800;22:18910311-18923820;22:18910311-19770565;22:18912232-20287208;22:18912404-21431174;22:18912871-21431174;22:18915348-21463730;22:18916828-20311858;22:18916829-20312661;22:18916829-21041014;22:18916829-21049800;22:18916843-19004772;22:18916843-20310938;22:18916843-20311858;22:18916843-20312661;22:18916843-20716903;22:18916843-20767095;22:18916843-21011216;22:18916843-21033371;22:18916843-21075592;22:18916844-20311858;22:18916844-21033401;22:18916844-21075592;22:18918742-20311922;22:18919580-21460595;22:18919943-20311763;22:18919943-20659606;22:18919943-20708934;22:18919943-21025713;22:18919943-21440514;22:18922152-21449911;22:18938162-20229017;22:18938162-20996250;22:18938162-21455556;22:18962314-21455556;22:18973253-21435405;22:18999804-21455499;22:18999804-21455556;22:19016664-21463730;22:19023802-21440455;22:19023802-21440514;22:19035018-21461811;22:19035324-21464119;22:19036287-21208284;22:19058830-21440514;22:19156118-19529130;22:19163094-19166249;22:19163624-19770565;22:19184001-21416024;22:19336599-21208828;22:19470352-19481849;22:19647906-21153690;22:19709401-21142058;22:19709436-19712313;22:19709952-19963280;22:19710419-21142058;22:19711062-19712294;22:19711829-19711877;22:19743227-19755855;22:19743425-19747210;22:19743425-19754400;22:19743425-19770565;22:19743474-19747220;22:19747168-19754390;22:19748301-19754857;22:19748451-19748647;22:20008633-20054687;22:20027161-20063237;22:20028564-20053554;22:20028990-20062723;22:20028993-20062955;22:20029136-20062954;22:20029701-20062756;22:20030823-20041691;22:20030823-20053554;22:20030859-20052185;22:20030879-20049206;22:20030879-20052185;22:20036383-20045782;22:20036384-20045781;22:20036385-20045784;22:20039969-20043556;22:20708891-21407690;22:20718171-21427936;22:20733496-21463730;22:20745763-21460658;22:20754408-21440515;22:20754408-21457610;22:20754423-21461752;22:20778874-20792112;22:20921343-21459713;22:21061979-21213099;22:21062169-21463730;22:21062567-21463730;22:21065883-21455556;22:21067570-21414817;22:21069074-21463730;22:21074921-21440514;22:21075576-21454721;22:21081285-21457610;22:21128401-21142008;22:21213295-21245502;22:21335907-21346541;22:21336586-21353321;22:21336662-21337398;22:21336662-21351637;22:21348908-21348985 CLN:1349334;dbVar:nssv17974796 22:21337344-21337343;22:21337344-21337456 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) dbVar:nssv15161990;dbVar:nssv15139753;dbVar:nssv15150031;dbVar:nssv15150491;dbVar:nssv15146973;dbVar:nssv15135173;dbVar:nssv15137211;dbVar:nssv15129128;dbVar:nssv15161991;dbVar:nssv15161992;dbVar:nssv15164031;dbVar:nssv16254742;dbVar:nssv16297047;dbVar:nssv15151140;nssv16207460;dbVar:nssv15141953;dbVar:nssv15156366;nssv15772157;dbVar:nssv17976875;dbVar:nssv16207463;dbVar:nssv16296938;dbVar:nssv16207464;dbVar:nssv15774756;dbVar:nssv18329565;dbVar:nssv15149512;nssv15150794;dbVar:nssv15139758;dbVar:nssv15755803;dbVar:nssv15774287;dbVar:nssv15605979;dbVar:nssv15139756;dbVar:nssv15605980;dbVar:nssv15137771;dbVar:nssv15132295;dbVar:nssv15133039;dbVar:nssv15133301;dbVar:nssv15132518;dbVar:nssv15134365;dbVar:nssv15146613;dbVar:nssv15133111;dbVar:nssv15147269;dbVar:nssv15121201;dbVar:nssv15136264;dbVar:nssv15605803;dbVar:nssv15605804;dbVar:nssv16736606;dbVar:nssv15128891;dbVar:nssv15126571;dbVar:nssv15128500;dbVar:nssv16254735;dbVar:nssv15140068;dbVar:nssv15137505;dbVar:nssv15128758;dbVar:nssv15152138;dbVar:nssv15154014;dbVar:nssv15755815;dbVar:nssv15755817;dbVar:nssv16255668;dbVar:nssv18329661;dbVar:nssv18330205;dbVar:nssv15156359;dbVar:nssv15142823;dbVar:nssv15140066;dbVar:nssv15133432;dbVar:nssv15605805;dbVar:nssv15605808;dbVar:nssv15605806;dbVar:nssv15132858;dbVar:nssv15133520;dbVar:nssv15132127;dbVar:nssv15133128;dbVar:nssv15136566;dbVar:nssv15133389;dbVar:nssv15140044;dbVar:nssv15133925;dbVar:nssv15138146;dbVar:nssv15133393;nssv15139545;dbVar:nssv15135020;dbVar:nssv15132566;dbVar:nssv15164039;dbVar:nssv17955656;dbVar:nssv15132423;dbVar:nssv15132330;dbVar:nssv15126758;dbVar:nssv15127771;dbVar:nssv15126436;dbVar:nssv17649918;dbVar:nssv15162011;dbVar:nssv15125959;dbVar:nssv17955842;dbVar:nssv15139556;dbVar:nssv15122631;dbVar:nssv15123767;dbVar:nssv15162014;dbVar:nssv15143627;dbVar:nssv16865904;dbVar:nssv15123759;dbVar:nssv17650003;dbVar:nssv15755805;dbVar:nssv15132167;dbVar:nssv15133526;dbVar:nssv15162019;dbVar:nssv15145463;dbVar:nssv15145234;dbVar:nssv16207634;dbVar:nssv15605810;dbVar:nssv15605809;dbVar:nssv18842027;dbVar:nssv18842024;nssv18842046;dbVar:nssv18326316;dbVar:nssv15139749;dbVar:nssv15140369;dbVar:nssv15136643;dbVar:nssv15131931;nssv15133075;dbVar:nssv15131925;dbVar:nssv15134715;dbVar:nssv15132426;TS3:ISCA-37446;dbVar:nssv15605828;dbVar:nssv15153271;dbVar:nssv17976874;dbVar:nssv15139887;dbVar:nssv15137698;dbVar:nssv15139242;dbVar:nssv18329574;dbVar:nssv18329591;dbVar:nssv17976884;dbVar:nssv15132247;nssv15139527;dbVar:nssv15131997;nssv15139348;dbVar:nssv15137835;dbVar:nssv15132026;nssv15139977;dbVar:nssv15127741;dbVar:nssv18830785;dbVar:nssv15154013;dbVar:nssv16254573;dbVar:nssv16255670;dbVar:nssv15133914;dbVar:nssv15145464;dbVar:nssv15755306;dbVar:nssv15132169;dbVar:nssv17976883;dbVar:nssv16207466;dbVar:nssv15132044;dbVar:nssv15139694;dbVar:nssv15120579;dbVar:nssv15133646;dbVar:nssv15139596;dbVar:nssv15132083;dbVar:nssv18330192;dbVar:nssv15139716;dbVar:nssv15135998;dbVar:nssv15139748 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7.30;22.85;7.31;7.30;7.30;3.96;33.54;0.82;39.86;7.32;7.32;7.34;54.67;1.08;41.40;41.41;51.11;47.57;26.78;23.86;7.49;1.08;7.49;57.40;42.19;43.53;40.40;43.01;46.89;5.65;48.62;54.10;54.78;62.54;34.92;7.61;31.55;7.61;11.71;47.16;89.81;89.86;84.15;83.29;78.51;7.88;83.04;84.41;90.95;78.43;91.08;91.10;91.25;78.36;91.21;85.21;81.56;85.23;91.25;91.25;91.30;91.31;91.08;91.31;91.28;78.78;91.62;90.35;60.55;85.87;90.14;91.61;91.67;90.35;85.65;18.95;92.10;44.45;92.97;93.09;89.33;85.66;80.20;97.92;98.08;98.05;98.94;99.08;98.81;99.34;99.24;99.43;99.69;56.67;99.81;99.82;98.25;96.18;99.87;99.80;93.79;99.84;99.84;99.91;99.94;99.96;99.96;99.98;99.98;98.42;98.42;96.35;88.17;88.42;99.94;84.78;99.94;88.20;99.94;99.94;99.94;88.38;88.21;99.94;98.40;96.31;88.29;88.06;96.31;99.97;99.94;99.94;66.78;96.11;84.09;99.96;91.60;99.79;16.39;95.23;94.50;26.11;91.39;33.45;31.88;29.84;90.26;1.24;2.81 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) dbVar:nssv15134634;dbVar:nssv16208592;dbVar:nssv16208593;dbVar:nssv15141423;dbVar:nssv15132388;dbVar:nssv15128094;dbVar:nssv15132068;dbVar:nssv15133055;dbVar:nssv18787557;nssv18791888;dbVar:nssv16207650;dbVar:nssv15153272;dbVar:nssv15135754;dbVar:nssv15133431;nssv15139986;dbVar:nssv15125556;dbVar:nssv15126775;dbVar:nssv15133864;dbVar:nssv15755811;dbVar:nssv15755813;dbVar:nssv18326404;dbVar:nssv15126915;dbVar:nssv15128185;dbVar:nssv15145459;dbVar:nssv15145460;dbVar:nssv15138286;dbVar:nssv15154015;nssv18326430;dbVar:nssv18330227;dbVar:nssv17976889;dbVar:nssv17976891;dbVar:nssv15153273;dbVar:nssv18330460;dbVar:nssv17976888;dbVar:nssv15145461;dbVar:nssv15138328;dbVar:nssv17976880;dbVar:nssv15154017;dbVar:nssv18329577;dbVar:nssv15140316;dbVar:nssv15133433;dbVar:nssv18326382;dbVar:nssv17955872;dbVar:nssv15133434;dbVar:nssv16255835;dbVar:nssv15132708;dbVar:nssv15134184;dbVar:nssv15132128;nssv15139349;dbVar:nssv15134982;dbVar:nssv15135883;dbVar:nssv15133394;nssv16091745;dbVar:nssv15132006;nssv15139990;dbVar:nssv15137884;dbVar:nssv15133435;dbVar:nssv18792765;dbVar:nssv15135454;dbVar:nssv15133438;nssv15140028;dbVar:nssv15132230;nssv15139684;dbVar:nssv15132655;nssv15139976;dbVar:nssv15136079;dbVar:nssv15132507;nssv15139975;dbVar:nssv15132389;dbVar:nssv17976452;dbVar:nssv15164040;dbVar:nssv15137872;dbVar:nssv16254738;dbVar:nssv15127636;dbVar:nssv15128166;dbVar:nssv15127784;dbVar:nssv16208773;dbVar:nssv15145231;dbVar:nssv15145040;dbVar:nssv18786377;dbVar:nssv15145232;dbVar:nssv15139558;dbVar:nssv15163611;dbVar:nssv16215256;dbVar:nssv15128065;dbVar:nssv17955534;dbVar:nssv15163612;dbVar:nssv15145462;dbVar:nssv15145233;dbVar:nssv15163613;dbVar:nssv15132390;dbVar:nssv15163614;dbVar:nssv15162012;dbVar:nssv15139255;dbVar:nssv15162013;dbVar:nssv15162015;dbVar:nssv17976449;dbVar:nssv17955549;dbVar:nssv15162016;nssv16215222;nssv16215239;nssv16865884;dbVar:nssv15162017;dbVar:nssv15164042;dbVar:nssv15143222;dbVar:nssv15162018;dbVar:nssv16865881;dbVar:nssv15164043;dbVar:nssv15755824;dbVar:nssv17650004;dbVar:nssv17649858;dbVar:nssv16297048;dbVar:nssv17517456;dbVar:nssv15141730;dbVar:nssv15126093;dbVar:nssv15125439;dbVar:nssv15755804;dbVar:nssv15121171;dbVar:nssv15133439;dbVar:nssv15132392;dbVar:nssv15132132;dbVar:nssv15133440;dbVar:nssv15136213;dbVar:nssv15605874;nssv15605879;dbVar:nssv17976881;dbVar:nssv15119655;dbVar:nssv18842051;dbVar:nssv17173212;dbVar:nssv17173202;dbVar:nssv18792648;dbVar:nssv16091922;dbVar:nssv15143862;dbVar:nssv17976675;dbVar:nssv18830700;dbVar:nssv18786378;dbVar:nssv18786379;dbVar:nssv15140698;dbVar:nssv15139562;dbVar:nssv15140747;dbVar:nssv15140051;dbVar:nssv15133317;nssv15143213;dbVar:nssv15131926;dbVar:nssv15605919;dbVar:nssv15755810;HI3:ISCA-37446;dbVar:nssv15139269;dbVar:nssv15137499;dbVar:nssv15138712;dbVar:nssv18330193;dbVar:nssv15139855;nssv18326386;dbVar:nssv15139854;nssv15153270;dbVar:nssv15154016;nssv17976890;dbVar:nssv15152149;dbVar:nssv15137491;dbVar:nssv18330326;dbVar:nssv18329598;dbVar:nssv18330218;dbVar:nssv15141653;dbVar:nssv15142207;dbVar:nssv15755814;dbVar:nssv15132248;nssv15139690;dbVar:nssv15134351;dbVar:nssv15132463;nssv15139699;dbVar:nssv15132523;dbVar:nssv15155695;dbVar:nssv18831006;dbVar:nssv17976279;dbVar:nssv15139289;dbVar:nssv15139467;dbVar:nssv15142401;dbVar:nssv15134356;dbVar:nssv18330006;dbVar:nssv15137446;dbVar:nssv17976741;dbVar:nssv15153268;dbVar:nssv15156357;dbVar:nssv18842023;dbVar:nssv15132608;dbVar:nssv15145465;dbVar:nssv15145466;dbVar:nssv15145235;dbVar:nssv15772502;dbVar:nssv15154008;dbVar:nssv15156354;dbVar:nssv15755308;nssv15755309;dbVar:nssv15155696;dbVar:nssv18330327;dbVar:nssv18326378;dbVar:nssv18329593;dbVar:nssv18330275;dbVar:nssv18329587;dbVar:nssv18329620;dbVar:nssv17956682;dbVar:nssv15776637;dbVar:nssv17649919;dbVar:nssv18326434;dbVar:nssv18326440;dbVar:nssv15120712;dbVar:nssv15139564;dbVar:nssv16208598;dbVar:nssv15755307;dbVar:nssv15156347;dbVar:nssv18330257;dbVar:nssv15755311;dbVar:nssv17957425;dbVar:nssv15121593;dbVar:nssv15154007;dbVar:nssv15134856;dbVar:nssv18330729;dbVar:nssv18330196;dbVar:nssv17977102 22:16087695-19363465;22:16888900-20125005;22:16888900-20730144;22:16888901-20026751;22:17019016-20718227;22:17177912-19892632;22:17397499-20311763;22:17397499-20708934;22:17565983-20052185;22:18475386-23764120;22:18626109-21800797;22:18628020-21464119;22:18628020-21505417;22:18628133-21561468;22:18628133-21883879;22:18628148-21440515;22:18631365-21800471;22:18636750-21800471;22:18639781-21910280;22:18641480-21712996;22:18641480-21722262;22:18642647-21717111;22:18642647-21742277;22:18644242-21465662;22:18644543-21465659;22:18644544-21800797;22:18644791-21798907;22:18644791-21800471;22:18644791-21915509;22:18644792-21041014;22:18645354-21800797;22:18646694-21631412;22:18648857-21465662;22:18648867-21798907;22:18648867-21800797;22:18648868-21465659;22:18650665-21440455;22:18650676-21455556;22:18655799-21726191;22:18660136-21737597;22:18660554-21455556;22:18661700-21457610;22:18661700-21505445;22:18661725-20659606;22:18661725-21440514;22:18661725-21461811;22:18661725-21464119;22:18661725-21505417;22:18661725-21561514;22:18661725-21809009;22:18671630-21536841;22:18689517-21588615;22:18706002-20311763;22:18706002-20659606;22:18706002-21025713;22:18706002-21440514;22:18706002-21464119;22:18706002-21505417;22:18706002-21809009;22:18718029-21326012;22:18728119-21811991;22:18765086-21661435;22:18765103-21661435;22:18788000-21065894;22:18788000-21468378;22:18788000-21684798;22:18789966-21591197;22:18790223-21697998;22:18820423-21477877;22:18834446-21414817;22:18834453-21575702;22:18844633-21463730;22:18844633-21608479;22:18844633-21797812;22:18848021-21468378;22:18861210-21630630;22:18861749-21463730;22:18868433-20331055;22:18868433-21477877;22:18872509-21465050;22:18874457-20306317;22:18875870-21470273;22:18875957-21466715;22:18876631-21465659;22:18878410-21465050;22:18878410-21907671;22:18884515-21484289;22:18884715-21483289;22:18886916-21463730;22:18886916-21465050;22:18886916-21467387;22:18886916-21811991;22:18889491-20312668;22:18889491-21463730;22:18889491-21466715;22:18889491-21917190;22:18889572-21464697;22:18889694-21465485;22:18889951-21466053;22:18889970-21462658;22:18890043-21440455;22:18890163-21464056;22:18890222-21561468;22:18890265-21540347;22:18890272-18999862;22:18890272-20328113;22:18890272-20659606;22:18890272-21394730;22:18890272-21461811;22:18891527-21796215;22:18892576-21460220;22:18893345-21650280;22:18893736-18924066;22:18893839-20307561;22:18893883-21563420;22:18893883-21571027;22:18893887-21386103;22:18893888-18923800;22:18893889-18973671;22:18893889-21414817;22:18893889-21481925;22:18893889-21570386;22:18894079-21414817;22:18894340-20255110;22:18894340-20255154;22:18894340-21440455;22:18894340-21440514;22:18894836-21505417;22:18894836-21561514;22:18900756-21800277;22:18912232-21465672;22:18912232-21465672;22:18916828-21465662;22:18916829-21465659;22:18916829-21465662;22:18916829-21800797;22:18916843-21465659;22:18916843-21465662;22:18916843-21798907;22:18916843-21804716;22:18916843-21804886;22:18916844-21465659;22:18916844-21800471;22:18916844-21915509;22:18917048-21465659;22:18917048-21465662;22:18919478-21800471;22:18919943-21505417;22:18919943-21505558;22:18919943-21561514;22:18919943-21809009;22:18935464-21465659;22:18936190-21464809;22:18936191-21464809;22:18970562-21465662;22:19024657-21465659;22:19024658-21465662;22:19029603-21505417;22:19046678-21465662;22:20279767-23822986;22:20310411-21804886;22:20311904-21465659;22:20311904-21800797;22:20609933-21576553;22:20659548-21561514;22:20703817-21503296;22:20703817-21631412;22:20713276-21477877;22:20716877-21465659;22:20716877-21465662;22:20716877-21798907;22:20716877-21800471;22:20716877-23819697;22:20716878-21465659;22:20725309-21465659;22:20725310-21804563;22:20725319-21800797;22:20728958-21798907;22:20728958-21800797;22:20728958-21915096;22:20729389-21465662;22:20730997-21465342;22:20732809-21465659;22:20732809-21800471;22:20733428-21505417;22:20749626-23972878;22:21029656-22481498;22:21033587-21800471;22:21049800-21465662;22:21049801-21465662;22:21059670-21800471;22:21059670-21804716;22:21065883-21937680;22:21075676-21465662;22:21081261-24593820;22:21092649-21465662;22:21188488-21804597;22:21462567-22962196 14.31;38.01;47.78;36.07;49.29;36.76;48.62;54.78;46.55;48.58;80.93;90.59;89.29;87.59;78.92;90.52;81.07;81.21;78.56;83.65;83.40;83.57;82.89;91.06;91.07;81.40;81.46;81.42;78.55;89.57;81.42;86.08;91.21;81.56;81.51;91.21;91.25;91.30;83.68;83.49;91.62;91.66;90.35;88.33;91.61;91.67;91.68;90.35;88.60;81.63;89.67;88.62;88.24;90.33;91.86;93.09;93.15;91.78;82.80;93.22;83.31;88.71;88.71;95.31;95.86;88.69;91.72;88.36;96.68;97.66;93.73;98.08;92.96;87.00;98.05;92.77;98.73;98.19;98.46;99.10;98.58;99.03;99.17;99.24;99.33;84.82;98.83;98.87;99.69;99.66;99.57;87.84;99.62;99.79;99.69;84.86;99.77;99.75;99.74;99.81;99.81;99.82;96.18;96.95;95.84;99.68;99.74;99.82;99.82;88.45;99.91;93.19;96.37;99.93;96.24;95.97;99.96;96.83;98.81;99.96;99.28;95.99;99.97;99.96;99.96;99.98;99.98;98.42;96.35;88.41;99.94;99.94;99.94;99.94;99.94;88.33;99.94;99.94;88.38;88.21;88.20;99.94;88.34;84.95;99.94;99.94;88.33;98.40;98.40;96.31;88.06;99.94;99.97;99.97;99.94;99.94;99.94;98.33;99.94;33.43;77.20;99.87;77.39;88.37;89.20;95.10;81.96;98.20;99.79;99.79;69.06;68.96;24.08;99.79;99.79;68.46;68.70;68.71;68.59;61.98;99.79;99.83;99.79;68.50;94.65;22.17;29.92;56.14;99.63;99.63;54.60;54.29;45.68;99.60;10.90;99.59;44.74;0.10 382 2-hydroxyglutaric_aciduria;Abnormality_of_metabolism/homeostasis;Acute_rhabdomyolysis;Autism_spectrum_disorder;Bardet-Biedl_syndrome;Bernard_Soulier_syndrome;CEDNIK_syndrome;CLDN5-related_neurodevelopmental_disorder;Cardiac_arrhythmia;Cardiovascular_phenotype;D,L-2-hydroxyglutaric_aciduria;DiGeorge_syndrome;Episodic_flaccid_weakness;Fetal_cystic_hygroma;Hereditary_cancer-predisposing_syndrome;Hypomyelinating_leukodystrophy_2;Inborn_genetic_diseases;Intellectual_disability;LZTR1-related_condition;LZTR1-related_disorders;Macrothrombocytopenia;Meier-Gorlin_syndrome_7;Metabolic_crises_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration;Mild_macrothrombocytopenia;Myasthenic_syndrome,_congenital,_23,_presynaptic;Noonan_syndrome;Noonan_syndrome_10;Noonan_syndrome_2;Noonan_syndrome_and_Noonan-related_syndrome;PI4KA-Related_Disorders;Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis;Proline_dehydrogenase_deficiency;RASopathy;Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome;SLC25A1-related_condition;Schwannomatosis;Schwannomatosis_2;See_cases;Seizure;Short_stature;Spastic_paraplegia_84,_autosomal_recessive;Thrombocytopenia;Van_den_Ende-Gupta_syndrome;Velocardiofacial_syndrome IMH 22:17036164-22613666 0.1686 22:18667571-18994853 DDD:56146;22:18877788-19033532 dgv543n27;chr22:18884850-18926400 dbVar;chr22:18897380-18897885 dbVar;chr22:18905003-18905655 dbVar;chr22:18908214-18916245 dbVar;22:18912158-18998999 1000g;chr22:18915430-18916245 dbVar;chr22:18920000-18927000 dbVar;chr22:18924000-18940000 dbVar;chr22:18928500-18933600 dbVar;chr22:18936140-18938323 dbVar;chr22:18958405-18962239 dbVar;chr22:18976999-19012000 dbVar;chr22:18986988-18991101 dbVar;chr22:18995665-18996607 dbVar;chr22:19006777-19007455 dbVar;chr22:19015177-19088691 dbVar;chr22:19030334-19103057 dbVar;chr22:19050376-19063398 dbVar... 22:18655861-19006984 dgv99e203;22:18876429-19006125 DDD:56173;22:18882313-19012377 DDD:56174;22:18884850-18926400 gnomAD-SV_v2.1_DUP_22_50647;chr22:18897885-18898551 dbVar;chr22:18908116-18908214 dbVar;chr22:18912157-18998999 dbVar;22:18912158-18998999 esv3647250;chr22:18917245-18921869 dbVar;chr22:18922181-18922289 dbVar;22:18924000-18940000 gnomAD-SV_v2.1_DUP_22_50652;chr22:18932850-18939000 dbVar;chr22:18946999-18963000 dbVar;chr22:18959589-18974015 dbVar;chr22:18979229-18981697 dbVar;chr22:18991101-19003643 dbVar;chr22:18998500-19027500 dbVar;chr22:19006877-19007455 dbVar;chr22:19023959-19024069 dbVar;chr22:19031999-19054000 dbVar... chr22:18884925-18927000 dbVar;chr22:18912157-18998999 dbVar;chr22:18920358-18923595 dbVar;chr22:18934402-18934486 dbVar;chr22:18938445-18969406 dbVar;chr22:18961454-18962214 dbVar;chr22:18977575-18977640 dbVar;chr22:18977576-18977640 dbVar;chr22:18979860-18979920 dbVar;chr22:18984228-18985696 dbVar;chr22:18994879-18998062 dbVar;chr22:18997267-19009786 dbVar;chr22:19008418-19009937 dbVar;chr22:19041070-19041296 dbVar;chr22:19050181-19050386 dbVar;chr22:19063483-19063613 dbVar;22:19063767-19063900 gnomAD-SV_v2.1_DEL_22_181349;chr22:19087245-19091323 dbVar;chr22:19091546-19099675 dbVar;chr22:19099906-19100607 dbVar... chr22:18884924-19013000 dbVar;chr22:18902898-18902992 dbVar;chr22:18912910-18913458 dbVar;chr22:18929400-18935100 dbVar;chr22:18934999-21466000 dbVar;chr22:18943458-18943555 dbVar;chr22:18961457-18962214 dbVar;22:18977576-18977640 1000g;22:18977576-18977640 gnomAD-SV_v2.1_DEL_22_181334;chr22:18980769-18984165 dbVar;chr22:18990004-18990064 dbVar;chr22:18997195-19009720 dbVar;chr22:19006733-19006786 dbVar;chr22:19008684-19010259 dbVar;chr22:19050028-19050086 dbVar;chr22:19054635-19055096 dbVar;chr22:19063767-19063900 dbVar;chr22:19085539-19085825 dbVar;chr22:19091504-19102801 dbVar;22:19098616-19100995 dgv1286e212... 325921;868289;16521;344527;344990;336054;337864;1189150;2526221;921730;347979;681737;674280;676645;64889;73372;74042;14568;552226;393066;393067;606697;1010990;1011193;1011198;1011201;1011203;988609;1919439;2386524;1215466;3038163;334661;1009921;347980;540341;366288;357345;101360;153623;1311717;1782887;2534354;2206583;844141;1573312;666970;81317;557557;612401;227094;... loss;gain 0.445 0.320 22:18894850-18894969 L1ME2z 22:21464126-21464591 L1MA7 22:18889511-18912230 1 97.89 -0.807902299547855 -1.20830830104818 -0.791505674827999 2.94244265911253 5.29477062168781 606810;190315;603465;138720;602054;606448;116790;616830;605566;613619;600286;142360;604202;600574 yes yes 0 1.0000e+00 1.0000e+00 1.9 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_loss_source, +1.00);3C (76 genes, +0.90);5F (+0.00) 5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 DGCR6 NM_005675 6 18893832 18899601 4766 392 59 yes 5 intron2-txEnd CDS-3'UTR 597 5' 18894835 18899601 DDD:56146;DDD:56173;DDD:56174;dbVar;dgv543n27;dgv99e203;gnomAD-SV_v2.1_DUP_22_50647 22:18655861-19006984;22:18667571-18994853;22:18876429-19006125;22:18877788-19033532;22:18882313-19012377;chr22:18884850-18926400;22:18884850-18926400 0.0355 dbVar chr22:18884924-19013000;chr22:18884925-18927000 0.01 IMH 22:17036164-22613666;22:18655109-20719124 0.1686 61.1 -0.678746019468492 -0.22775445384527 8214 9 9.8176e-12 7.6210e-07 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 PRODH NM_016335 6 18900293 18923806 23513 1803 100 no 14 txStart-txEnd 5'UTR-3'UTR 18900293 18923806 dbVar:nssv17649973;dbVar:nssv17971399 22:18900295-18923806;22:18910311-18923800 9 Inborn_genetic_diseases;Proline_dehydrogenase_deficiency DDD:56146;DDD:56173;DDD:56174;dbVar;dgv543n27;dgv99e203;gnomAD-SV_v2.1_DUP_22_50647 22:18655861-19006984;22:18667571-18994853;22:18876429-19006125;22:18877788-19033532;22:18882313-19012377;chr22:18884850-18926400;22:18884850-18926400 0.0355 dbVar chr22:18884924-19013000;chr22:18884925-18927000 0.01 IMH 22:17036164-22613666;22:18655109-20719124 0.1686 64889;73372;74042;14568;540341;81317;227094 loss 30 0 45.38 0.360135634788785 0.772811927860626 hyperprolinemia type 1 AR Definitive;Strong;Supportive 10192398;12217952;12525555;15662599;19736351;20524212;20524212[PMID]_23462603[PMID];23462603;26978485;28202261;28851938;5031477 5625 606810 Hyperprolinemia, type I, 239500 (3) AR;(Schizophrenia, susceptibility to, 4), 600850 (3) AD AD;AR yes yes 6 5.3577e-12 4.7536e-06 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 LOC122455341 NR_173081 1 18926981 18935206 8225 0 0 no 2 txStart-txEnd UTR 18926981 18935206 1000g;DDD:56146;DDD:56173;DDD:56174;dbVar;dgv543n27;dgv99e203;esv3647250;gnomAD-SV_v2.1_DUP_22_50652 22:18655861-19006984;22:18667571-18994853;22:18876429-19006125;22:18877788-19033532;22:18882313-19012377;chr22:18912157-18998999;22:18912158-18998999;22:18912158-18998999;chr22:18924000-18940000;22:18924000-18940000 0.0355 dbVar chr22:18884924-19013000;chr22:18912157-18998999 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851 0.1686 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 DGCR5 NR_110533 2 18957980 19018755 60775 0 0 no 6 txStart-txEnd UTR 18957980 19018755 dgv543n27 22:18877788-19033532 0.0100 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847 0.4801 26220 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 FAM246C NM_001396027 1 19017036 19017734 698 696 100 no 3 txStart-txEnd 5'UTR-3'UTR 19017036 19017734 dbVar;dgv543n27 22:18877788-19033532;chr22:18998500-19027500;chr22:19015177-19088691 0.0100 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 117134596 full=5 -22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 DGCR2 NM_005137 3 19023798 19109925 86127 1653 100 no 10 txStart-txEnd 5'UTR-3'UTR 19023798 19109925 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 768143;122920;768144;768145;742665;205629;742666;768146;724948;2058016;2381098 gain;loss 39.12 -0.375038933750903 0.817637812863819 schizophrenia AD Limited 9993 yes 4 5.1573e-06 1.0959e-03 full=5 +22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 DGCR2 NM_005137 3 19023798 19109925 86127 1653 100 no 10 txStart-txEnd 5'UTR-3'UTR 19023798 19109925 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 768143;122920;768144;768145;742665;205629;742666;768146;724948;2058016;2381098 gain;loss 39.12 -0.375038933750903 0.817637812863819 schizophrenia AD Limited 9993 4 5.1573e-06 1.0959e-03 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 DGCR11 NR_024157 1 19033674 19035888 2214 0 0 no 1 txStart-txEnd UTR 19033674 19035888 dbVar chr22:19015177-19088691;chr22:19030334-19103057;chr22:19031999-19054000 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 25786 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 ESS2 NM_022719 3 19117791 19132164 14373 1431 100 no 10 txStart-txEnd 5'UTR-3'UTR 19117791 19132164 dbVar chr22:19072999-19342000 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 8220 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 TSSK2 NM_053006 5 19118820 19120135 1315 1077 88 no 1 txStart-txEnd 5'UTR-3'UTR 19118820 19120135 dbVar chr22:19072999-19342000;chr22:19096500-19120500 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 33.13 -2.62354415217069 -2.53125239294469 -2.47162789907313 -0.184731887964386 1.02819617031079 23617 6 3.8610e-03 4.1565e-03 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 GSC2 NM_005315 2 19134505 19137805 3300 618 100 no 3 txStart-txEnd 5'UTR-3'UTR 19134505 19137805 dbVar chr22:19072999-19342000 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 65.74 1.18735715980007 0.932740471460801 2928 9 4.4347e-03 3.7186e-02 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 LINC01311 NR_103767 1 19159218 19160345 1127 0 0 no 1 txStart-txEnd UTR 19159218 19160345 dbVar chr22:19072999-19342000 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 100652736 full=5 -22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 SLC25A1 NM_001256534 2 19163093 19166018 2925 957 100 no 8 txStart-txEnd 5'UTR-3'UTR 19163093 19166018 9 2-hydroxyglutaric_aciduria;D,L-2-hydroxyglutaric_aciduria;Inborn_genetic_diseases;Myasthenic_syndrome,_congenital,_23,_presynaptic;SLC25A1-related_condition dbVar chr22:19072999-19342000 0.01 dbVar chr22:18934999-21466000;chr22:19161075-19192940 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 30 46.07 -2.62354415217069 -2.53125239294469 -2.47162789907313 0.459211010381399 1.99698466418685 D,L-2-hydroxyglutaric aciduria;myasthenic syndrome, congenital, 23, presynaptic;presynaptic congenital myasthenic syndrome AD;AR Limited;Strong;Supportive 23561848;23561848[PMID]_23393310[PMID];26273529;26870663;29238895;31527857;31808147;NULL 6576 190315 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) AR;Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3) AR AR yes 3 5.8829e-02 6.3354e-01 full=5 +22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 SLC25A1 NM_001256534 2 19163093 19166018 2925 957 100 no 8 txStart-txEnd 5'UTR-3'UTR 19163093 19166018 9 2-hydroxyglutaric_aciduria;D,L-2-hydroxyglutaric_aciduria;Inborn_genetic_diseases;Myasthenic_syndrome,_congenital,_23,_presynaptic;SLC25A1-related_condition dbVar chr22:19072999-19342000 0.01 dbVar chr22:18934999-21466000;chr22:19161075-19192940 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 30 46.07 -2.62354415217069 -2.53125239294469 -2.47162789907313 0.459211010381399 1.99698466418685 D,L-2-hydroxyglutaric aciduria;mitochondrial disease;myasthenic syndrome, congenital, 23, presynaptic;presynaptic congenital myasthenic syndrome AD;AR Definitive;Limited;Strong;Supportive 23561848;23561848[PMID]_23393310[PMID];26273529;26870663;29238895;31527857;31808147;NULL 6576 190315 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) AR;Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3) AR AR yes 3 5.8829e-02 6.3354e-01 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 CLTCL1 NM_007098 4 19166985 19279242 112257 4923 100 no 33 txStart-txEnd 5'UTR-3'UTR 19166985 19279242 dbVar chr22:19072999-19342000 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 724952;22726;768149;546696 loss 72.86 -2.62354415217069 -2.53125239294469 -2.47162789907313 -0.597972033048653 -1.19469008098196 congenital insensitivity to pain with severe intellectual disability;multiple congenital anomalies/dysmorphic syndrome AD;AR Limited;Supportive 26068709[PMID] 8218 5 2.5101e-37 1.2408e-26 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 HIRA NM_003325 4 19318220 19419256 101036 3054 100 no 25 txStart-txEnd 5'UTR-3'UTR 19318220 19419256 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 724953;521179;520035 loss 0 0 19.48 -2.51547904504873 -2.53125239294469 -2.47162789907313 -0.543665561522748 3.98018572942351 7290 0 1.0000e+00 1.0000e+00 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 MRPL40 NM_003776 4 19420067 19423598 3531 621 100 no 4 txStart-txEnd 5'UTR-3'UTR 19420067 19423598 dbVar chr22:19344390-19544397 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 54.99 -2.62354415217069 -2.53125239294469 -2.47162789907313 0.0822917398873284 -0.450618700229176 64976 4 5.2924e-02 2.0082e-02 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 C22orf39 NM_173793 5 19428408 19435234 6826 318 100 no 3 txStart-txEnd 5'UTR-3'UTR 19428408 19435234 dbVar chr22:19344390-19544397 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 70.45 -2.53806827104914 -2.53125239294469 -2.47162789907313 0.128056348383697 0.836381939603491 128977 9 1.9976e-05 3.6900e-07 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 UFD1 NM_005659 7 19437433 19466716 29283 924 100 no 12 txStart-txEnd 5'UTR-3'UTR 19437433 19466716 dbVar chr22:19344390-19544397 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 724954;724955;724956;768151 gain;loss 7353 full=5 -22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 CDC45 NM_001178010 2 19467348 19508135 40787 1797 100 no 20 txStart-txEnd 5'UTR-3'UTR 19467348 19508135 dbVar:nssv15124515 22:19470352-19481849 7 Meier-Gorlin_syndrome_7 dbVar chr22:19344390-19544397 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 768153;724957 loss 8.4 -2.57292784443109 -2.53125239294469 -2.47162789907313 0.554183575869215 1.2901097836858 Meier-Gorlin syndrome;Meier-Gorlin syndrome 7 AD;AR Definitive;Strong;Supportive 11416137;121376;149250;27374770;27374770[PMID];282832;30986546 8318 603465 Meier-Gorlin syndrome 7, 617063 (3) AR AR yes 3 4.6237e-05 6.9104e-02 full=5 +22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 CDC45 NM_001178010 2 19467348 19508135 40787 1797 100 no 20 txStart-txEnd 5'UTR-3'UTR 19467348 19508135 dbVar:nssv15124515 22:19470352-19481849 7 Meier-Gorlin_syndrome_7 dbVar chr22:19344390-19544397 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 768153;724957 loss 8.4 -2.57292784443109 -2.53125239294469 -2.47162789907313 0.554183575869215 1.2901097836858 Meier-Gorlin syndrome;Meier-Gorlin syndrome 7 AD;AR Definitive;Strong;Supportive 11416137;121376;149250;27374770;27374770[PMID];282832;30986546 8318 603465 Meier-Gorlin syndrome 7, 617063 (3) AR AR 3 4.6237e-05 6.9104e-02 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 CLDN5 NM_001130861 1 19510546 19512860 2314 912 52 no 1 txStart-txEnd 5'UTR-3'UTR 19510546 19512860 1 CLDN5-related_neurodevelopmental_disorder dbVar chr22:19344390-19544397 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 50.93 2.94244265911253 3.34022892264706 7122 1 8.9512e-01 7.4052e-01 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 LINC00895 NR_024381 1 19553652 19554362 710 0 0 no 1 txStart-txEnd UTR 19553652 19554362 dbVar chr22:19531786-19559055;chr22:19531786-19666087 0.01 dbVar chr22:18934999-21466000;chr22:19528613-19558447;chr22:19531786-19559055 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 150185 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 SEPTIN5 NM_002688 6 19702025 19710842 8817 1110 100 no 12 txStart-txEnd 5'UTR-3'UTR 19702025 19710842 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 5413 full=5 @@ -61,9 +61,9 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 POM121L4P NR_024592 1 21043842 21046009 2167 0 0 no 1 txStart-txEnd UTR 21043842 21046009 dbVar chr22:20989999-21481000;chr22:21036802-21046081;chr22:21036802-21053355;chr22:21037000-21051000 0.01 dbVar chr22:18934999-21466000;chr22:21027000-21048000 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 266697 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 TMEM191A NR_026815 1 21055401 21058891 3490 0 0 no 8 txStart-txEnd UTR 21055401 21058891 dbVar chr22:20989999-21481000;chr22:21051000-21059000 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 84222 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 PI4KA NM_058004 4 21061978 21213099 151121 6309 100 no 55 txStart-txEnd 5'UTR-3'UTR 21061978 21213099 Gastrointestinal defects and immunodeficiency syndrome 2, 619708 (3) AR;Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3) AR;Spastic paraplegia 84, AR, 619621 (3) AR;Thrombophilia 10 due to heparin cofactor II deficiency, 612356 (3) AD morbid:PI4KA;morbid:SERPIND1 22:21061979-21213099;22:21128401-21142008 8 PI4KA-Related_Disorders;Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis;Spastic_paraplegia_84,_autosomal_recessive dbVar chr22:20989999-21481000 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 513199;263494;724990;724991;768172;768173;1061246;1068660;1060873;1070188;1065051;1068661;1073865;1068662;1069644;1066059;724992;724993;367925;2069010;724994;724995;75440 loss;gain 35.17 1.20573288011437 5.29477062168781 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis AR Definitive;Moderate;Strong 25855803;29738522;30614210;34415310;34415322 5297 600286 Gastrointestinal defects and immunodeficiency syndrome 2, 619708 (3) AR;Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3) AR;Spastic paraplegia 84, AR, 619621 (3) AR AR yes 2 3.1234e-12 8.0407e-04 full=5 -22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 SERPIND1 NM_000185 4 21128400 21142008 13608 1500 100 no 5 txStart-txEnd 5'UTR-3'UTR 21128400 21142008 Thrombophilia 10 due to heparin cofactor II deficiency, 612356 (3) AD morbid:SERPIND1 22:21128401-21142008 dbVar chr22:20989999-21481000;chr22:21078735-21159481 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21078735-21159481 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 724992;724993 loss 68.88 -1.06265755233802 -1.49456297636655 -1.03231231326932 -0.289055396385536 -0.349034099945665 heparin cofactor 2 deficiency AD Definitive;Limited;Strong 15337701;2647747;277130;8562924 3053 142360 Thrombophilia 10 due to heparin cofactor II deficiency, 612356 (3) AD AD yes yes 8 2.5137e-10 2.7955e-05 full=5 +22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 SERPIND1 NM_000185 4 21128400 21142008 13608 1500 100 no 5 txStart-txEnd 5'UTR-3'UTR 21128400 21142008 Thrombophilia 10 due to heparin cofactor II deficiency, 612356 (3) AD morbid:SERPIND1 22:21128401-21142008 dbVar chr22:20989999-21481000;chr22:21078735-21159481 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21078735-21159481 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 724992;724993 loss 68.88 -1.06265755233802 -1.49456297636655 -1.03231231326932 -0.289055396385536 -0.349034099945665 heparin cofactor 2 deficiency AD Definitive;Limited;Strong 15337701;2647747;277130;8562924 3053 142360 Thrombophilia 10 due to heparin cofactor II deficiency, 612356 (3) AD AD yes 8 2.5137e-10 2.7955e-05 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 SNAP29 NM_004782 4 21213294 21245502 32208 777 100 no 5 txStart-txEnd 5'UTR-3'UTR 21213294 21245502 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) AR morbid:SNAP29 22:21213295-21245502 10 CEDNIK_syndrome;Hypomyelinating_leukodystrophy_2 dbVar chr22:20989999-21481000 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 30 61.36 -1.39880243235913 -1.53414994058354 -1.19910660480315 1.58078637399342 -0.841707455415557 CEDNIK syndrome AR Strong;Supportive 15968592;15968592[PMID]_21073448[PMID];21073448;23231787;25473036;26747696 9342 604202 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) AR AR yes 4 1.3567e-02 1.5166e-01 full=5 -22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 CRKL NM_005207 4 21271694 21308035 36341 912 100 no 3 txStart-txEnd 5'UTR-3'UTR 21271694 21308035 dbVar chr22:20989999-21481000;chr22:21256865-21435776 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 687520;325941 gain 1 0 4.35 -0.928255048107525 -1.20830830104818 -0.791505674827999 0.477351976371369 3.00980268645085 1399 3 4.4604e-01 1.6345e-01 full=5 +22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 CRKL NM_005207 4 21271694 21308035 36341 912 100 no 3 txStart-txEnd 5'UTR-3'UTR 21271694 21308035 dbVar chr22:20989999-21481000;chr22:21256865-21435776 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 687520;325941 gain 1 0 4.35 -0.928255048107525 -1.20830830104818 -0.791505674827999 0.477351976371369 3.00980268645085 congenital heart disease No Known Disease Relationship 1399 3 4.4604e-01 1.6345e-01 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 LINC01637 NR_110537 1 21311379 21318968 7589 0 0 no 2 txStart-txEnd UTR 21311379 21318968 dbVar chr22:20989999-21481000;chr22:21256865-21435776 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 101928891 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 AIFM3 NM_144704 3 21319459 21335647 16188 1818 100 no 21 txStart-txEnd 5'UTR-3'UTR 21319459 21335647 dbVar chr22:20989999-21481000;chr22:21256865-21435776 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 38.59 -1.14442881641699 -1.26664892202732 -0.922844550293754 0.687283106386744 1.33036583543754 150209 5 1.9474e-14 1.9583e-10 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 LZTR1 NM_006767 4 21336585 21353321 16736 2523 100 no 21 txStart-txEnd 5'UTR-3'UTR 21336585 21353321 Noonan syndrome 10, 616564 (3) AD;Noonan syndrome 2, 605275 (3) AR;Schwannomatosis-2, susceptibility to, 615670 (3) AD CLN:2871255;dbVar:nssv17171582;dbVar:nssv17971092;morbid:LZTR1 22:21336586-21353321;22:21336662-21337398;22:21336662-21351637;22:21348908-21348985 CLN:1349334;dbVar:nssv17974796 22:21337344-21337343;22:21337344-21337456 287 Autism_spectrum_disorder;Cardiovascular_phenotype;Fetal_cystic_hygroma;Hereditary_cancer-predisposing_syndrome;Inborn_genetic_diseases;LZTR1-related_condition;LZTR1-related_disorders;Noonan_syndrome;Noonan_syndrome_10;Noonan_syndrome_2;Noonan_syndrome_and_Noonan-related_syndrome;RASopathy;Schwannomatosis;Schwannomatosis_2;See_cases;Short_stature dbVar chr22:20989999-21481000;chr22:21256865-21435776 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 687522 gain 32.82 -1.25119505668143 -1.28020537251329 -0.946080819110286 0.246895000414255 0.909128978651125 Noonan syndrome;Noonan syndrome 10;Noonan syndrome 2;schwannomatosis 2 AD;AR Definitive;Moderate;Strong;Supportive 15955931;16534111;23401320;24362817;25335493;25480913;25795793;25795793[PMID];26446362;274799;278971;287232;29469822;30368668;303983;30442762;30442766;30481304;30664951;30859559;31533111;31825158 8216 600574 Noonan syndrome 10, 616564 (3) AD;Noonan syndrome 2, 605275 (3) AR;(Schwannomatosis-2, susceptibility to), 615670 (3) AD AD;AR yes yes 9 1.0211e-92 3.3832e-52 full=5 @@ -76,7 +76,7 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 P2RX6P NR_002829 1 21396680 21398538 1858 0 0 no 2 txStart-txEnd UTR 21396680 21398538 dbVar;esv2760719 chr22:20989999-21481000;chr22:21256865-21435776;chr22:21372999-21431350;22:21383283-21845355 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 440799 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 LRRC74B NM_001291006 2 21400234 21418457 18223 1179 100 no 10 txStart-txEnd 5'UTR-3'UTR 21400234 21418457 dbVar;esv2760719 chr22:20989999-21481000;chr22:21256865-21435776;chr22:21372999-21431350;22:21383283-21845355 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 725000 loss 400891 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 BCRP2 NR_037566 1 21457304 21476575 6815 0 0 no 6 txStart-intron1 UTR 6098 3' 21457304 21464119 dbVar;esv2760719 chr22:20989999-21481000;22:21383283-21845355;chr22:21453999-21469000;chr22:21455959-21464881 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21455959-21464881;chr22:21456000-21467000 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 400892 full=5 -4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA full p16.3-p16.1 ZNF595;ZNF718;ZNF876P;ZNF732;ZNF141;MIR571;ABCA11P;ZNF721;PIGG;TMEM271;LOC105374338;PDE6B;ATP5ME;MYL5;SLC49A3;PCGF3;PCGF3-AS1;CPLX1;GAK;TMEM175;DGKQ;SLC26A1;IDUA;FGFRL1;RNF212;LOC105374344;TMED11P;SPON2;LOC100130872;CTBP1-AS;CTBP1;CTBP1-DT;MAEA;UVSSA;NKX1-1;FAM53A;SLBP;TMEM129;TACC3;FGFR3;LETM1;NSD2;SCARNA22;NELFA;MIR943;C4orf48;NAT8L;POLN;HAUS3;MXD4;MIR4800;ZFYVE28;CFAP99;RNF4;FAM193A;TNIP2;SH3BP2;ADD1;MFSD10;NOP14-AS1;NOP14;GRK4;HTT-AS;HTT;MSANTD1;RGS12;HGFAC;DOK7;LRPAP1;LINC00955;LINC02171;ADRA2C;FAM86EP;OTOP1;TMEM128;LYAR;ZBTB49;NSG1;STX18;STX18-IT1;STX18-AS1;SNORD162;LOC101928279;LINC01396;MSX1;LOC101928306;CYTL1;STK32B;LINC01587;EVC2;EVC;CRMP1;MIR378D1;C4orf50;JAKMIP1;JAKMIP1-DT;WFS1;PPP2R2C;MAN2B2;MRFAP1;LINC02482;LOC93622;LINC02481;S100P;MRFAP1L1;BLOC1S4;KIAA0232;TBC1D14;LOC100129931;CCDC96;TADA2B;GRPEL1;LINC02447;SORCS2;MIR4798;PSAPL1;MIR4274;AFAP1-AS1;AFAP1;LOC389199;ABLIM2;MIR95;SH3TC1;HTRA3;LINC02517;ACOX3;TRMT44;GPR78;CPZ;HMX1;FAM90A26;USP17L10;USP17L11;USP17L12;USP17L13;USP17L15;USP17L17;USP17L18;USP17L19;USP17L20;USP17L21;USP17L22;USP17L24;USP17L25;USP17L26;USP17L5;USP17L27;USP17L28;USP17L29;USP17L9P;USP17L30;USP17L6P DEFB131A 152 ACTC1 (morbid/RE=mTL_miRNA);ACVR1 (morbid/RE=mTL_miRNA);AGO2 (morbid/RE=mTL_miRNA);AKT1 (morbid/RE=mTL_miRNA);ANTXR2 (morbid/RE=mTL_miRNA);ARF1 (morbid/RE=mTL_miRNA);ARHGDIA (morbid/RE=mTL_miRNA);ARPC1B (morbid/RE=mTL_miRNA);ATAD5 (morbid/RE=mTL_miRNA);ATXN2 (morbid/RE=mTL_miRNA);B3GNT2 (morbid/RE=mTL_miRNA);CAD (morbid/RE=mTL_miRNA);CALM2 (morbid/RE=mTL_miRNA);CASK (morbid/RE=mTL_miRNA);CCNF (morbid/RE=mTL_miRNA);CDKN1A (morbid/RE=mTL_miRNA);CEBPD (morbid/RE=mTL_miRNA);CELF2 (morbid/RE=mTL_miRNA);CEP55 (morbid/RE=mTL_miRNA);CIITA (morbid/RE=mTL_miRNA);CNTNAP2 (morbid/RE=mTL_miRNA);COL18A1 (morbid/RE=mTL_miRNA);COL1A1 (HI=3/morbid/RE=mTL_miRNA);CRCP (morbid/RE=mTL_miRNA);CREBBP (HI=3/morbid/RE=mTL_miRNA);CTCF (HI=3/morbid/RE=mTL_miRNA);DAAM2 (morbid/RE=mTL_miRNA);DDR2 (morbid/RE=mTL_miRNA);DDX3X (HI=3/morbid/RE=mTL_miRNA);DGKB (morbid/RE=mTL_miRNA);DUSP8 (morbid/RE=mTL_miRNA);EDEM3 (morbid/RE=mTL_miRNA);EGLN1 (morbid/RE=mTL_miRNA);ELOVL5 (morbid/RE=mTL_miRNA);EREG (morbid/RE=mTL_miRNA);ESCO2 (morbid/RE=mTL_miRNA);FLCN (HI=3/morbid/RE=mTL_miRNA);FLVCR1 (morbid/RE=mTL_miRNA);FOXC1 (HI=3/morbid/RE=mTL_miRNA);FOXP2 (morbid/RE=mTL_miRNA);G6PD (morbid/RE=mTL_miRNA);GABPA (morbid/RE=mTL_miRNA);GABRB2 (morbid/RE=mTL_miRNA);GATA6 (HI=3/morbid/RE=mTL_miRNA);GLI2 (HI=3/morbid/RE=mTL_miRNA);GLUL (morbid/RE=mTL_miRNA);GNAS (HI=3/morbid/RE=mTL_miRNA);HERC2 (morbid/RE=mTL_miRNA);HFE (morbid/RE=mTL_miRNA);HIF1AN (morbid/RE=mTL_miRNA)... Retinitis_pigmentosa|Retinitis_pigmentosa_40 HP:0000547 CLN:801370;dbVar:nssv15124412;dbVar:nssv15130095;dbVar:nssv15132150;dbVar:nssv15132411;dbVar:nssv15132589;dbVar:nssv15133497;dbVar:nssv15153559;dbVar:nssv15161020;dbVar:nssv16255833;dbVar:nssv16867404;dbVar:nssv17172169;dbVar:nssv17973849;dbVar:nssv18330201 4:127234-8667610;4:1420949-1836794;4:1737489-1808653;4:1770487-2303110;4:374558-745174;4:5567009-5587839;4:5785270-5803831;4:614356-2959936;4:619584-619584;4:619590-619662;4:72448-3848881;4:72448-5608810;4:85041-4597934;4:963689-2913553 4p16.3 terminal (Wolf-Hirschhorn syndrome) region;?Cataract 41, 116400 (3) AD;Deafness, AD 6;14;38, 600965 (3) AD;Wolfram syndrome 1, 222300 (3) AR;Wolfram-like syndrome, AD, 614296 (3) AD;Diabetes mellitus, noninsulin-dependent, association with, 125853 (3) AD;?Spermatogenic failure 62, 619673 (3) AR;Recombination rate QTL 1, 612042 (3);?Weyers acrofacial dysostosis, 193530 (3) AD;Ellis-van Creveld syndrome, 225500 (3) AR;Achondroplasia, 100800 (3) AD;Bladder cancer, somatic, 109800 (3);CATSHL syndrome, 610474 (3) AR,AD;Cervical cancer, somatic, 603956 (3);Colorectal cancer, somatic, 114500 (3);Crouzon syndrome with acanthosis nigricans, 612247 (3) AD;Hypochondroplasia, 146000 (3) AD;LADD syndrome 2, 620192 (3) AD;Muenke syndrome, 602849 (3) AD;Nevus, epidermal, somatic, 162900 (3);SADDAN, 616482 (3) AD;Spermatocytic seminoma, somatic, 273300 (3);Thanatophoric dysplasia, type I, 187600 (3) AD;Thanatophoric dysplasia, type II, 187601 (3) AD;Cherubism, 118400 (3) AD;Curry-Hall_syndrome|Ellis-van_Creveld_syndrome;Developmental and epileptic encephalopathy 63, 617976 (3) AR;Ectodermal dysplasia 3, Witkop type, 189500 (3) AD;Orofacial cleft 5, 608874 (3) AD;Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3) AD;Ellis-van Creveld syndrome, 225500 (3) AR;Weyers acrofacial dysostosis, 193530 (3) AD;Fetal akinesia deformation sequence 3, 618389 (3) AR;Myasthenic syndrome, congenital, 10, 254300 (3) AR;Huntington disease, 143100 (3) AD;Lopes-Maciel-Rodan syndrome, 617435 (3) AR;Hurler_syndrome;Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3) AD;Mucopolysaccharidosis Ih, 607014 (3) AR;Mucopolysaccharidosis Ih;s, 607015 (3) AR;Mucopolysaccharidosis Is, 607016 (3) AR;Mucopolysaccharidosis_type_1;Myopia 23, AR, 615431 (3) AR;Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, 620089 (3) AR;Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, 616917 (3) AR;Blood group, EMM system, 619812 (3) AR;Night blindness, congenital stationary, AD 2, 163500 (3) AD;Retinitis pigmentosa-40, 613801 (3) AR;Oculoauricular syndrome, 612109 (3) AR;Rauch-Steindl syndrome, 619695 (3) AD;UV-sensitive syndrome 3, 614640 (3) AR HP:0000943 CLN:1313135;CLN:2672009;CLN:961843;HI3:ISCA-37429;HI3:MSX1;HI3:NSD2;dbVar:nssv15119851;dbVar:nssv15121023;dbVar:nssv15121032;dbVar:nssv15121033;dbVar:nssv15121034;dbVar:nssv15121217;dbVar:nssv15121218;dbVar:nssv15121687;dbVar:nssv15122678;dbVar:nssv15123516;dbVar:nssv15124520;dbVar:nssv15127349;dbVar:nssv15130945;dbVar:nssv15131476;dbVar:nssv15131910;dbVar:nssv15132407;dbVar:nssv15132408;dbVar:nssv15132580;nssv15140019;dbVar:nssv15132953;dbVar:nssv15133489;dbVar:nssv15133490;dbVar:nssv15133634;dbVar:nssv15134794;dbVar:nssv15134826;dbVar:nssv15135086;dbVar:nssv15135107;dbVar:nssv15138367;dbVar:nssv15138802;dbVar:nssv15138941;dbVar:nssv15139309;dbVar:nssv15144315;dbVar:nssv15147286;dbVar:nssv15153560;dbVar:nssv15153562;dbVar:nssv15605891;dbVar:nssv15606061;dbVar:nssv15770186;dbVar:nssv15770321;dbVar:nssv16211870;dbVar:nssv16212102;dbVar:nssv16213046;dbVar:nssv16213271;dbVar:nssv16213451;dbVar:nssv16213572;dbVar:nssv16213637;dbVar:nssv16213802;dbVar:nssv16214176;dbVar:nssv16214333;dbVar:nssv16216714;dbVar:nssv16252200;dbVar:nssv16253953;dbVar:nssv16254938;dbVar:nssv16297119;dbVar:nssv16297131;dbVar:nssv16867405;dbVar:nssv17171362;dbVar:nssv17171376;dbVar:nssv17171391;dbVar:nssv17171923;dbVar:nssv17172168;dbVar:nssv17172572;dbVar:nssv17172573;dbVar:nssv17172574;dbVar:nssv17172955;dbVar:nssv17173143;dbVar:nssv17173159;dbVar:nssv17683620;dbVar:nssv17970729;dbVar:nssv17970732;dbVar:nssv17971217;dbVar:nssv17971266;dbVar:nssv17971361;dbVar:nssv17971686;dbVar:nssv17971734;dbVar:nssv17971799;dbVar:nssv17971904;dbVar:nssv17972056;dbVar:nssv17972166;dbVar:nssv17972432;dbVar:nssv17973718;nssv17974037;dbVar:nssv17973748;dbVar:nssv17974578;dbVar:nssv17975024;dbVar:nssv17976233;dbVar:nssv17976464;dbVar:nssv17976477;dbVar:nssv17976550;dbVar:nssv18326580;dbVar:nssv18786244;dbVar:nssv18786333;dbVar:nssv18787193;dbVar:nssv18788241;dbVar:nssv18788242;dbVar:nssv18788927;dbVar:nssv18788928;dbVar:nssv18790018;dbVar:nssv18790019;dbVar:nssv18790020;dbVar:nssv18790021;dbVar:nssv18790022;dbVar:nssv18790117;dbVar:nssv18790118;dbVar:nssv18790119;dbVar:nssv18790120;dbVar:nssv18790121;dbVar:nssv18790180;dbVar:nssv18790633;dbVar:nssv18791534;dbVar:nssv18791535;dbVar:nssv18791536;dbVar:nssv18791537;dbVar:nssv18791538;dbVar:nssv18791542;dbVar:nssv18830727;morbid:CPLX1;morbid:CTBP1;morbid:DOK7;morbid:EVC;morbid:EVC2;morbid:FGFR3;morbid:HMX1;morbid:HTRA3;morbid:HTT;morbid:IDUA;morbid:LETM1;morbid:LRPAP1;morbid:MSX1;morbid:NSD2;morbid:PDE6B;morbid:PIGG;morbid:RNF212;morbid:SH3BP2;morbid:UVSSA;morbid:WFS1 4:1087097-1107352;4:1190912-2255904;4:1205233-1244143;4:1228529-2862002;4:129754-9371067;4:1305803-2460571;4:1340996-1381837;4:1619776-2181192;4:1701019-1975031;4:1784695-1919793;4:1795020-1810594;4:1813206-1857883;4:1827029-1860753;4:1873124-1983934;4:1902353-1950545;4:1941634-3879802;4:1966267-5913899;4:2009467-3080412;4:2200252-5710240;4:2364202-5447465;4:2820541-2842823;4:2909441-6871516;4:3076408-3245687;4:3085428-7591673;4:331569-2010962;4:3465094-3495238;4:3465104-3465298;4:3475114-3491543;4:3478271-3491403;4:3486271-3496209;4:3487104-3487370;4:3487247-3495248;4:3487257-3487395;4:3487257-3495238;4:3494467-3495228;4:3495083-3495158;4:3505339-3534149;4:3776785-7361544;4:388345-3872380;4:4859066-4864603;4:4861392-4865663;4:4861393-4865663;4:4861628-6304195;4:492999-533989;4:493126-2065854;4:493126-663896;4:493126-998181;4:493969-499930;4:494166-494410;4:499508-502759;4:501175-533158;4:502599-509994;4:507006-2214932;4:509743-533158;4:512203-518547;4:520809-1020391;4:524206-527790;4:5563147-5711294;4:5564166-5711275;4:5564566-5578191;4:5564566-5586587;4:5564566-5759862;4:5564576-5567096;4:5565511-5811251;4:5570162-5570377;4:5576403-5576509;4:5617140-5812774;4:5630277-5633769;4:5630336-5635926;4:5630338-5635927;4:5636440-5710337;4:5642222-5642585;4:5682978-5735172;4:5690875-5691080;4:5690875-5696238;4:5696053-5696238;4:5710004-5750043;4:5711925-5817031;4:5712928-5816032;4:5713109-5714221;4:5713159-5713318;4:5731025-5759862;4:5733143-5735172;4:5749726-5755670;4:5754554-5755670;4:5754554-5758099;4:5754554-5785501;4:5754599-5758602;4:5785270-5812774;4:5795340-5795484;4:5795341-5795483;4:5798730-5798979;4:5798740-5798969;4:5803668-5806578;4:5809919-5811348;4:619417-619883;4:6271577-6304992;4:6279184-6279434;4:629670-670728;4:646966-664571;4:647642-648677;4:651220-652826;4:652722-656427;4:652742-656407;4:660321-661795;4:664193-671649;4:72448-2110334;4:72448-2327204;4:72448-2691306;4:72448-3208040;4:72448-3563382;4:72448-3725774;4:72448-3787112;4:72448-4360445;4:72448-4889835;4:72448-5036718;4:72448-5214111;4:72448-5346537;4:72448-6245152;4:72448-7831152;4:75743-8672411;4:778745-819917;4:78471-3364946;4:8271481-8308825;4:85041-1921232;4:85041-2010262;4:85041-4407509;4:85041-7065426;4:85041-7845343;4:8613755-8873340;4:8868774-8873565;4:980776-981040;4:980776-981747;4:990308-992083;4:990309-992082;4:993498-998345;4:994391-998355;4:996510-998192;4:996511-998191;4:996511-998355 dbVar:nssv15165478;dbVar:nssv15148693;dbVar:nssv15149137;dbVar:nssv15125120;dbVar:nssv15134956;dbVar:nssv15136789;dbVar:nssv15148117;dbVar:nssv15165480;dbVar:nssv15164282;dbVar:nssv15164281;dbVar:nssv16215300;dbVar:nssv15145847;dbVar:nssv15132087;dbVar:nssv15132302;dbVar:nssv16254944;dbVar:nssv16207938;dbVar:nssv18830986;dbVar:nssv15150724;dbVar:nssv15777261;dbVar:nssv15151365;nssv18326348;dbVar:nssv15150634;dbVar:nssv15142189;dbVar:nssv15149870;nssv15151360;dbVar:nssv17649922;dbVar:nssv15147407;dbVar:nssv15146379;dbVar:nssv15146614;dbVar:nssv15148043;dbVar:nssv15146983;dbVar:nssv15146984;dbVar:nssv17976755;dbVar:nssv18841857;dbVar:nssv18841859;dbVar:nssv15164312;dbVar:nssv18841858;dbVar:nssv15149115 4:11526-191028879;4:12441-190904441;4:12441-49064044;4:33575-6632513;4:36425-1583294;4:36425-4098729;4:36425-47493612;4:49451-190915650;4:49451-190963766;4:49451-46339070;4:49451-49620898;4:51414-17799819;4:51414-3776843;4:51414-8224525;4:68346-2503033;4:68346-27423424;4:68346-34512694;4:68346-3713599;4:68346-4051616;4:68346-49089361;4:68346-66440622;4:68346-8731855;4:68347-190957473;4:69672-29702595;4:72448-21024037;4:72448-33132242;4:72448-39478764;4:78471-15627196;4:85041-22451641;4:85041-38701987;4:114785-47569569;4:507006-49064194;4:507006-57939396;4:1356925-49659859;4:2906395-42965249;4:6447049-20490737 4.87;4.87;18.96;99.42;97.73;99.14;19.60;4.87;4.87;20.09;18.76;52.40;99.46;99.75;99.87;34.00;27.00;99.91;99.92;18.97;14.01;99.96;4.87;31.38;44.38;28.13;23.60;59.76;41.52;24.05;19.51;18.25;15.43;16.59;16.14;20.82 dbVar:nssv18330206;dbVar:nssv16254942;dbVar:nssv15140532;dbVar:nssv15129769;dbVar:nssv15124924;dbVar:nssv15139152;dbVar:nssv15136460;dbVar:nssv15138769;dbVar:nssv15136794;dbVar:nssv15139111;dbVar:nssv15145893;dbVar:nssv15145934;dbVar:nssv15134095;dbVar:nssv15147322;dbVar:nssv8639431;dbVar:nssv15164280;dbVar:nssv16208663;dbVar:nssv15123439;dbVar:nssv15135098;dbVar:nssv15146364;dbVar:nssv15121022;dbVar:nssv15119845;dbVar:nssv16207942;dbVar:nssv15151269;dbVar:nssv15149902;dbVar:nssv15146789;dbVar:nssv17976873;dbVar:nssv15151109;dbVar:nssv17957198;dbVar:nssv15137532;dbVar:nssv15148266;dbVar:nssv17956854;dbVar:nssv17976719;dbVar:nssv16254943;dbVar:nssv16207937;dbVar:nssv15152168;dbVar:nssv15141218;dbVar:nssv16254952;dbVar:nssv15150277;dbVar:nssv17976824;dbVar:nssv16254953;dbVar:nssv15139308;dbVar:nssv16207941;dbVar:nssv15138820;nssv16207940;dbVar:nssv16207939;dbVar:nssv18330137;dbVar:nssv18330792;dbVar:nssv17649921;dbVar:nssv15150501;dbVar:nssv15146961;dbVar:nssv15146716;dbVar:nssv15147405;dbVar:nssv15146665;dbVar:nssv15146669;dbVar:nssv15146272;dbVar:nssv15146661;dbVar:nssv15146276;dbVar:nssv15774427;dbVar:nssv15151369;dbVar:nssv15145981;dbVar:nssv16207944 4:2-12785001;4:2-1328868;4:29215-1925508;4:33575-2356516;4:33575-4534781;4:36425-1957819;4:36425-3267258;4:36425-3883057;4:36425-3975771;4:36425-7361544;4:36425-9371067;4:37337-15870679;4:37337-3776839;4:37337-9370984;4:44021-19796182;4:49451-2010397;4:49451-24280482;4:49451-8872474;4:51414-1399150;4:56773-14501384;4:56773-2214932;4:56773-3872380;4:68346-10312798;4:68346-10336032;4:68346-13770107;4:68346-14614077;4:68346-1512353;4:68346-15973383;4:68346-1675143;4:68346-1999185;4:68346-20387231;4:68346-20587167;4:68346-20964575;4:68346-2137211;4:68346-2786584;4:68346-3891984;4:68346-4044985;4:68346-5046326;4:68346-5319773;4:68346-5579467;4:68346-5831521;4:68346-6056753;4:68346-6984507;4:68346-8731855;4:68346-9768141;4:68347-12369983;4:68347-2437290;4:68599-18912995;4:71553-15302739;4:71553-29006745;4:72448-10252290;4:72448-12900236;4:72448-15659658;4:72448-17279636;4:72448-28067931;4:78471-10337237;4:85041-17488365;4:3374196-13468480;4:4165335-33324781;4:4428131-17462172;4:5914110-17264668 72.74;94.62;97.77;98.37;99.16;98.17;98.91;99.09;99.11;99.52;99.62;58.73;99.09;99.63;47.08;98.87;38.38;99.75;98.51;64.38;99.32;99.61;90.78;90.57;67.87;63.93;99.78;58.47;99.80;99.83;45.77;45.32;44.50;99.84;99.88;99.92;99.92;99.94;99.94;99.94;99.94;99.95;99.95;99.96;95.87;75.60;99.86;49.35;61.06;32.14;91.34;72.49;59.66;54.04;33.21;90.58;53.36;59.41;17.85;37.92;30.46 809 4p_partial_monosomy_syndrome;Abnormality_of_mucopolysaccharide_metabolism;Abnormality_of_the_cervical_spine;Abnormality_of_the_diaphragm;Abnormality_of_the_musculature;Abnormality_of_the_nervous_system;Abnormality_of_the_vertebral_column;Acanthosis_nigricans;Achondroplasia;Arachnodactyly;Autosomal_dominant_nonsyndromic_hearing_loss_6;Autosomal_recessive_retinitis_pigmentosa;Bell-shaped_thorax;Bowed_humerus;Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome;Carcinoma;Carcinoma_of_colon;Cataract_41;Cerebellar_vermis_hypoplasia;Cervical_cancer;Cleft_palate;Colorectal_cancer;Cone-rod_dystrophy;Congenital_Stationary_Night_Blindness,_Dominant;Congenital_laryngomalacia;Congenital_myasthenic_syndrome;Congenital_myasthenic_syndrome_10;Congenital_stationary_night_blindness_autosomal_dominant_2;Connective_tissue_disorder;Coronal_craniosynostosis;Craniosynostosis_syndrome;Crouzon_syndrome;Crouzon_syndrome-acanthosis_nigricans_syndrome;Curry-Hall_syndrome;DOK7-related_condition;Dandy-Walker_syndrome;Developmental_and_epileptic_encephalopathy,_63;Diabetes_mellitus;Diaphragmatic_eventration;Disproportionate_short-limb_short_stature;Duane_retraction_syndrome;EVC-related_condition;EVC2-related_condition;Ellis-van_Creveld_syndrome;Emm-null_phenotype;Epidermal_nevus;FGFR3-Related_Disorders;FGFR3-related_chondrodysplasia;FGFR3-related_condition;FGFR3-related_disorder;Facial_asymmetry;Feeding_difficulties;Femoral_bowing;Fetal_akinesia_deformation_sequence_1;Fetal_akinesia_deformation_sequence_3;Fibrous_dysplasia_of_jaw;Generalized_non-motor_(absence)_seizure;Germ_cell_tumor_of_testis;Global_developmental_delay;Growth_delay;Hamartoma;Hurler_syndrome;Hydronephrosis;Hydroureter;Hypochondroplasia;Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome;Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome;IDUA-related_condition;Inborn_genetic_diseases;Infantile_axial_hypotonia;Intellectual_disability,_autosomal_recessive_53;Interstitial_pneumonitis;Isolated_microphthalmia_6;Jeune_thoracic_dystrophy;Larsen_syndrome;Leber_congenital_amaurosis;Lethal_short-limbed_short_stature;Levy-Hollister_syndrome;Lower_limb_undergrowth;Lung_adenocarcinoma;MSX1-related_condition;Malignant_tumor_of_testis;Malignant_tumor_of_urinary_bladder;Microglossia;Micrognathia;Mucopolysaccharidosis;Mucopolysaccharidosis,_MPS-I-H/S;Mucopolysaccharidosis,_MPS-I-S;Mucopolysaccharidosis,_MPS-IV-A;Mucopolysaccharidosis_type_1;Mucopolysacchariduria;Muenke_syndrome;Multiple_myeloma;Myopia_23,_autosomal_recessive;NSD2_related_disorders;Narrow_chest;Neurodevelopmental_delay;Night_blindness;Nonsyndromic_genetic_hearing_loss;PDE6B-Related_Disorders;PDE6B-related_condition;PDE6B-related_disorder;PIGG-related_condition;Papillary_renal_cell_carcinoma,_sporadic;Rare_genetic_deafness;Rauch-Steindl_syndrome;Retinal_dystrophy;Retinitis_pigmentosa;Retinitis_pigmentosa_40;Rett_syndrome;Rod-cone_dystrophy;SEVERE_ACHONDRODYSPLASIA_WITH_DEVELOPMENTAL_DELAY_AND_ACANTHOSIS_NIGRICANS;Saethre-Chotzen_syndrome;Seborrheic_keratosis;See_cases;Seizure;Sensorineural_hearing_loss_disorder;Severe_achondroplasia-developmental_delay-acanthosis_nigricans_syndrome;Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly;Short_ribs;Short_stature;Skeletal_dysplasia;Skeletal_dysplasia_with_acanthosis_nigricans;Small_for_gestational_age;Small_hand;Smith-Magenis_Syndrome-like;Spermatocytic_seminoma;Squamous_cell_carcinoma_of_the_head_and_neck;Squamous_cell_lung_carcinoma;Syndromic_intellectual_disability;Thanatophoric_dysplasia;Thanatophoric_dysplasia,_type_2;Thanatophoric_dysplasia_type_1;Transitional_cell_carcinoma_of_the_bladder;Type_2_diabetes_mellitus;Type_IV_short_rib_polydactyly_syndrome;Tyrosinase-positive_oculocutaneous_albinism;Unilateral_renal_agenesis;Upper_limb_undergrowth;Urinary_bladder_carcinoma;WFS1-Related_Spectrum_Disorders;WFS1-related_condition;WFS1-related_disorder;Wolf-Hirschhorn_like_syndrome;Wolfram-like_syndrome;Wolfram_syndrome;Wolfram_syndrome_1;not_specified chr4:21300-72378 dbVar;chr4:71970-524981 dbVar;chr4:73133-74170 dbVar;chr4:85610-147335 dbVar;chr4:103000-188000 dbVar;chr4:132436-152893 dbVar;chr4:138870-148818 dbVar;chr4:152769-183508 dbVar;chr4:155278-175992 dbVar;chr4:162000-167500 dbVar;chr4:191270-254556 dbVar;chr4:262616-285681 dbVar;chr4:271244-271302 dbVar;chr4:295501-331199 dbVar;chr4:307937-308376 dbVar;chr4:335381-378075 dbVar;4:401040-401369 1000g;chr4:543700-551000 dbVar;chr4:556278-557708 dbVar;chr4:556316-557119 dbVar... 4:12282-121562 esv2763806;chr4:67914-130131 dbVar;chr4:72378-125835 dbVar;4:73133-74170 gnomAD-SV_v2.1_DUP_4_10814;chr4:86159-87031 dbVar;chr4:129745-155494 dbVar;chr4:138786-148918 dbVar;4:138871-148818 1000g;chr4:154425-188523 dbVar;chr4:155494-174423 dbVar;chr4:166964-186650 dbVar;chr4:251718-251943 dbVar;chr4:264283-265776 dbVar;chr4:293298-293354 dbVar;chr4:297194-398976 dbVar;chr4:308401-399950 dbVar;chr4:381471-427496 dbVar;chr4:479000-491000 dbVar;4:548827-549483 IMH;chr4:556315-559071 dbVar... chr4:69000-224200 dbVar;chr4:90243-101974 dbVar;chr4:90308-102025 dbVar;4:91367-96776 1000g;chr4:114840-117344 dbVar;chr4:120580-120638 dbVar;chr4:127000-307000 dbVar;chr4:138218-138889 dbVar;chr4:141289-187522 dbVar;chr4:144992-145089 dbVar;chr4:154845-154912 dbVar;chr4:160511-164534 dbVar;chr4:194252-194740 dbVar;chr4:198780-199558 dbVar;chr4:212942-226976 dbVar;chr4:237038-239475 dbVar;chr4:244793-248873 dbVar;chr4:249822-249919 dbVar;chr4:260746-265323 dbVar;4:263958-264238 esv2665266... chr4:67914-130131 dbVar;chr4:72279-204237 dbVar;4:90244-101974 1000g;chr4:91366-96776 dbVar;chr4:91373-96776 dbVar;chr4:119685-128703 dbVar;chr4:126571-135658 dbVar;chr4:128533-168126 dbVar;chr4:138870-148818 dbVar;chr4:141363-187545 dbVar;chr4:152769-183508 dbVar;4:156233-158501 nsv515005;chr4:160901-161000 dbVar;chr4:198668-199069 dbVar;4:209407-209857 DDD:12676;chr4:231372-238511 dbVar;chr4:244791-248846 dbVar;4:244794-248873 1000g;chr4:260724-264299 dbVar;chr4:260949-261120 dbVar... 350019;114017;67152;46048;46518;46741;127417;127609;127611;127614;161882;283299;293074;345517;138595;44907;805614;96043;121153;129024;155921;825063;873166;106199;346122;124794;125321;125450;61253;32937;33052;42624;42918;42920;121154;51264;68579;37490;37729;37746;59962;644212;70954;71346;88010;134575;136254;137603;277083;62340;38753;... loss;gain 0.445 0.425 4:9370857-9371011 MER5B 4:9357712-9469143;4:9357889-9408758;4:9357889-9408758;4:9362634-9457876 4:9199301-9371400 High Signal Region 3 1.29231994213647 1.20702378077388 1.11611247300207 3.25348988684008 5.41905620095129 194648;616918;180072;605032;610130;252800;612041;602618;614632;134934;604407;602952;610647;602104;102680;613004;610285;104225;104250;142983;607261;604831;606201;142992 yes yes 0 1.0000e+00 1.0000e+00 1.9 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_loss_source, +1.00);3C (152 genes, +0.90);5F (+0.00) 5 +4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA full p16.3-p16.1 ZNF595;ZNF718;ZNF876P;ZNF732;ZNF141;MIR571;ABCA11P;ZNF721;PIGG;TMEM271;LOC105374338;PDE6B;ATP5ME;MYL5;SLC49A3;PCGF3;PCGF3-AS1;CPLX1;GAK;TMEM175;DGKQ;SLC26A1;IDUA;FGFRL1;RNF212;LOC105374344;TMED11P;SPON2;LOC100130872;CTBP1-AS;CTBP1;CTBP1-DT;MAEA;UVSSA;NKX1-1;FAM53A;SLBP;TMEM129;TACC3;FGFR3;LETM1;NSD2;SCARNA22;NELFA;MIR943;C4orf48;NAT8L;POLN;HAUS3;MXD4;MIR4800;ZFYVE28;CFAP99;RNF4;FAM193A;TNIP2;SH3BP2;ADD1;MFSD10;NOP14-AS1;NOP14;GRK4;HTT-AS;HTT;MSANTD1;RGS12;HGFAC;DOK7;LRPAP1;LINC00955;LINC02171;ADRA2C;FAM86EP;OTOP1;TMEM128;LYAR;ZBTB49;NSG1;STX18;STX18-IT1;STX18-AS1;SNORD162;LOC101928279;LINC01396;MSX1;LOC101928306;CYTL1;STK32B;LINC01587;EVC2;EVC;CRMP1;MIR378D1;C4orf50;JAKMIP1;JAKMIP1-DT;WFS1;PPP2R2C;MAN2B2;MRFAP1;LINC02482;LOC93622;LINC02481;S100P;MRFAP1L1;BLOC1S4;KIAA0232;TBC1D14;LOC100129931;CCDC96;TADA2B;GRPEL1;LINC02447;SORCS2;MIR4798;PSAPL1;MIR4274;AFAP1-AS1;AFAP1;LOC389199;ABLIM2;MIR95;SH3TC1;HTRA3;LINC02517;ACOX3;TRMT44;GPR78;CPZ;HMX1;FAM90A26;USP17L10;USP17L11;USP17L12;USP17L13;USP17L15;USP17L17;USP17L18;USP17L19;USP17L20;USP17L21;USP17L22;USP17L24;USP17L25;USP17L26;USP17L5;USP17L27;USP17L28;USP17L29;USP17L9P;USP17L30;USP17L6P DEFB131A 152 ACTC1 (morbid/RE=mTL_miRNA);ACVR1 (morbid/RE=mTL_miRNA);AGO2 (morbid/RE=mTL_miRNA);AKT1 (morbid/RE=mTL_miRNA);ANTXR2 (morbid/RE=mTL_miRNA);ARF1 (morbid/RE=mTL_miRNA);ARHGDIA (morbid/RE=mTL_miRNA);ARPC1B (morbid/RE=mTL_miRNA);ATXN2 (morbid/RE=mTL_miRNA);CAD (morbid/RE=mTL_miRNA);CALM2 (morbid/RE=mTL_miRNA);CASK (morbid/RE=mTL_miRNA);CCNF (morbid/RE=mTL_miRNA);CELF2 (morbid/RE=mTL_miRNA);CEP55 (morbid/RE=mTL_miRNA);CIITA (morbid/RE=mTL_miRNA);CNTNAP2 (morbid/RE=mTL_miRNA);COL18A1 (morbid/RE=mTL_miRNA);COL1A1 (HI=3/morbid/RE=mTL_miRNA);CREBBP (HI=3/morbid/RE=mTL_miRNA);CTCF (HI=3/morbid/RE=mTL_miRNA);DAAM2 (morbid/RE=mTL_miRNA);DDR2 (morbid/RE=mTL_miRNA);DDX3X (HI=3/morbid/RE=mTL_miRNA);EDEM3 (morbid/RE=mTL_miRNA);EGLN1 (morbid/RE=mTL_miRNA);ELOVL5 (morbid/RE=mTL_miRNA);ESCO2 (morbid/RE=mTL_miRNA);FLCN (HI=3/morbid/RE=mTL_miRNA);FLVCR1 (morbid/RE=mTL_miRNA);FOXC1 (HI=3/morbid/RE=mTL_miRNA);FOXP2 (morbid/RE=mTL_miRNA);G6PD (morbid/RE=mTL_miRNA);GABRB2 (morbid/RE=mTL_miRNA);GATA6 (HI=3/morbid/RE=mTL_miRNA);GLI2 (HI=3/morbid/RE=mTL_miRNA);GLUL (morbid/RE=mTL_miRNA);GNAS (HI=3/morbid/RE=mTL_miRNA);HERC2 (morbid/RE=mTL_miRNA);HFE (morbid/RE=mTL_miRNA);IGF1R (HI=3/morbid/RE=mTL_miRNA);INF2 (morbid/RE=mTL_miRNA);ITM2B (morbid/RE=mTL_miRNA);KCNJ6 (morbid/RE=mTL_miRNA);LAMA4 (morbid/RE=mTL_miRNA);LMNB2 (morbid/RE=mTL_miRNA);LRP6 (morbid/RE=mTL_miRNA);MED13 (morbid/RE=mTL_miRNA);MEN1 (HI=3/morbid/RE=mTL_miRNA);MMADHC (morbid/RE=mTL_miRNA)... Retinitis_pigmentosa|Retinitis_pigmentosa_40 HP:0000547 CLN:801370;dbVar:nssv15124412;dbVar:nssv15130095;dbVar:nssv15132150;dbVar:nssv15132411;dbVar:nssv15132589;dbVar:nssv15133497;dbVar:nssv15153559;dbVar:nssv15161020;dbVar:nssv16255833;dbVar:nssv16867404;dbVar:nssv17172169;dbVar:nssv17973849;dbVar:nssv18330201 4:127234-8667610;4:1420949-1836794;4:1737489-1808653;4:1770487-2303110;4:374558-745174;4:5567009-5587839;4:5785270-5803831;4:614356-2959936;4:619584-619584;4:619590-619662;4:72448-3848881;4:72448-5608810;4:85041-4597934;4:963689-2913553 4p16.3 terminal (Wolf-Hirschhorn syndrome) region;?Cataract 41, 116400 (3) AD;Deafness, AD 6;14;38, 600965 (3) AD;Wolfram syndrome 1, 222300 (3) AR;Wolfram-like syndrome, AD, 614296 (3) AD;Diabetes mellitus, noninsulin-dependent, association with, 125853 (3) AD;?Spermatogenic failure 62, 619673 (3) AR;Recombination rate QTL 1, 612042 (3);?Weyers acrofacial dysostosis, 193530 (3) AD;Ellis-van Creveld syndrome, 225500 (3) AR;Achondroplasia, 100800 (3) AD;Bladder cancer, somatic, 109800 (3);CATSHL syndrome, 610474 (3) AR,AD;Cervical cancer, somatic, 603956 (3);Colorectal cancer, somatic, 114500 (3);Crouzon syndrome with acanthosis nigricans, 612247 (3) AD;Hypochondroplasia, 146000 (3) AD;LADD syndrome 2, 620192 (3) AD;Muenke syndrome, 602849 (3) AD;Nevus, epidermal, somatic, 162900 (3);SADDAN, 616482 (3) AD;Spermatocytic seminoma, somatic, 273300 (3);Thanatophoric dysplasia, type I, 187600 (3) AD;Thanatophoric dysplasia, type II, 187601 (3) AD;Cherubism, 118400 (3) AD;Curry-Hall_syndrome|Ellis-van_Creveld_syndrome;Developmental and epileptic encephalopathy 63, 617976 (3) AR;Ectodermal dysplasia 3, Witkop type, 189500 (3) AD;Orofacial cleft 5, 608874 (3) AD;Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3) AD;Ellis-van Creveld syndrome, 225500 (3) AR;Weyers acrofacial dysostosis, 193530 (3) AD;Fetal akinesia deformation sequence 3, 618389 (3) AR;Myasthenic syndrome, congenital, 10, 254300 (3) AR;Huntington disease, 143100 (3) AD;Lopes-Maciel-Rodan syndrome, 617435 (3) AR;Hurler_syndrome;Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3) AD;Mucopolysaccharidosis Ih, 607014 (3) AR;Mucopolysaccharidosis Ih;s, 607015 (3) AR;Mucopolysaccharidosis Is, 607016 (3) AR;Mucopolysaccharidosis_type_1;Myopia 23, AR, 615431 (3) AR;Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, 620089 (3) AR;Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, 616917 (3) AR;Blood group, EMM system, 619812 (3) AR;Night blindness, congenital stationary, AD 2, 163500 (3) AD;Retinitis pigmentosa-40, 613801 (3) AR;Oculoauricular syndrome, 612109 (3) AR;Rauch-Steindl syndrome, 619695 (3) AD;UV-sensitive syndrome 3, 614640 (3) AR HP:0000943 CLN:1313135;CLN:2672009;CLN:961843;HI3:ISCA-37429;HI3:MSX1;HI3:NSD2;dbVar:nssv15119851;dbVar:nssv15121023;dbVar:nssv15121032;dbVar:nssv15121033;dbVar:nssv15121034;dbVar:nssv15121217;dbVar:nssv15121218;dbVar:nssv15121687;dbVar:nssv15122678;dbVar:nssv15123516;dbVar:nssv15124520;dbVar:nssv15127349;dbVar:nssv15130945;dbVar:nssv15131476;dbVar:nssv15131910;dbVar:nssv15132407;dbVar:nssv15132408;dbVar:nssv15132580;nssv15140019;dbVar:nssv15132953;dbVar:nssv15133489;dbVar:nssv15133490;dbVar:nssv15133634;dbVar:nssv15134794;dbVar:nssv15134826;dbVar:nssv15135086;dbVar:nssv15135107;dbVar:nssv15138367;dbVar:nssv15138802;dbVar:nssv15138941;dbVar:nssv15139309;dbVar:nssv15144315;dbVar:nssv15147286;dbVar:nssv15153560;dbVar:nssv15153562;dbVar:nssv15605891;dbVar:nssv15606061;dbVar:nssv15770186;dbVar:nssv15770321;dbVar:nssv16211870;dbVar:nssv16212102;dbVar:nssv16213046;dbVar:nssv16213271;dbVar:nssv16213451;dbVar:nssv16213572;dbVar:nssv16213637;dbVar:nssv16213802;dbVar:nssv16214176;dbVar:nssv16214333;dbVar:nssv16216714;dbVar:nssv16252200;dbVar:nssv16253953;dbVar:nssv16254938;dbVar:nssv16297119;dbVar:nssv16297131;dbVar:nssv16867405;dbVar:nssv17171362;dbVar:nssv17171376;dbVar:nssv17171391;dbVar:nssv17171923;dbVar:nssv17172168;dbVar:nssv17172572;dbVar:nssv17172573;dbVar:nssv17172574;dbVar:nssv17172955;dbVar:nssv17173143;dbVar:nssv17173159;dbVar:nssv17683620;dbVar:nssv17970729;dbVar:nssv17970732;dbVar:nssv17971217;dbVar:nssv17971266;dbVar:nssv17971361;dbVar:nssv17971686;dbVar:nssv17971734;dbVar:nssv17971799;dbVar:nssv17971904;dbVar:nssv17972056;dbVar:nssv17972166;dbVar:nssv17972432;dbVar:nssv17973718;nssv17974037;dbVar:nssv17973748;dbVar:nssv17974578;dbVar:nssv17975024;dbVar:nssv17976233;dbVar:nssv17976464;dbVar:nssv17976477;dbVar:nssv17976550;dbVar:nssv18326580;dbVar:nssv18786244;dbVar:nssv18786333;dbVar:nssv18787193;dbVar:nssv18788241;dbVar:nssv18788242;dbVar:nssv18788927;dbVar:nssv18788928;dbVar:nssv18790018;dbVar:nssv18790019;dbVar:nssv18790020;dbVar:nssv18790021;dbVar:nssv18790022;dbVar:nssv18790117;dbVar:nssv18790118;dbVar:nssv18790119;dbVar:nssv18790120;dbVar:nssv18790121;dbVar:nssv18790180;dbVar:nssv18790633;dbVar:nssv18791534;dbVar:nssv18791535;dbVar:nssv18791536;dbVar:nssv18791537;dbVar:nssv18791538;dbVar:nssv18791542;dbVar:nssv18830727;morbid:CPLX1;morbid:CTBP1;morbid:DOK7;morbid:EVC;morbid:EVC2;morbid:FGFR3;morbid:HMX1;morbid:HTRA3;morbid:HTT;morbid:IDUA;morbid:LETM1;morbid:LRPAP1;morbid:MSX1;morbid:NSD2;morbid:PDE6B;morbid:PIGG;morbid:RNF212;morbid:SH3BP2;morbid:UVSSA;morbid:WFS1 4:1087097-1107352;4:1190912-2255904;4:1205233-1244143;4:1228529-2862002;4:129754-9371067;4:1305803-2460571;4:1340996-1381837;4:1619776-2181192;4:1701019-1975031;4:1784695-1919793;4:1795020-1810594;4:1813206-1857883;4:1827029-1860753;4:1873124-1983934;4:1902353-1950545;4:1941634-3879802;4:1966267-5913899;4:2009467-3080412;4:2200252-5710240;4:2364202-5447465;4:2820541-2842823;4:2909441-6871516;4:3076408-3245687;4:3085428-7591673;4:331569-2010962;4:3465094-3495238;4:3465104-3465298;4:3475114-3491543;4:3478271-3491403;4:3486271-3496209;4:3487104-3487370;4:3487247-3495248;4:3487257-3487395;4:3487257-3495238;4:3494467-3495228;4:3495083-3495158;4:3505339-3534149;4:3776785-7361544;4:388345-3872380;4:4859066-4864603;4:4861392-4865663;4:4861393-4865663;4:4861628-6304195;4:492999-533989;4:493126-2065854;4:493126-663896;4:493126-998181;4:493969-499930;4:494166-494410;4:499508-502759;4:501175-533158;4:502599-509994;4:507006-2214932;4:509743-533158;4:512203-518547;4:520809-1020391;4:524206-527790;4:5563147-5711294;4:5564166-5711275;4:5564566-5578191;4:5564566-5586587;4:5564566-5759862;4:5564576-5567096;4:5565511-5811251;4:5570162-5570377;4:5576403-5576509;4:5617140-5812774;4:5630277-5633769;4:5630336-5635926;4:5630338-5635927;4:5636440-5710337;4:5642222-5642585;4:5682978-5735172;4:5690875-5691080;4:5690875-5696238;4:5696053-5696238;4:5710004-5750043;4:5711925-5817031;4:5712928-5816032;4:5713109-5714221;4:5713159-5713318;4:5731025-5759862;4:5733143-5735172;4:5749726-5755670;4:5754554-5755670;4:5754554-5758099;4:5754554-5785501;4:5754599-5758602;4:5785270-5812774;4:5795340-5795484;4:5795341-5795483;4:5798730-5798979;4:5798740-5798969;4:5803668-5806578;4:5809919-5811348;4:619417-619883;4:6271577-6304992;4:6279184-6279434;4:629670-670728;4:646966-664571;4:647642-648677;4:651220-652826;4:652722-656427;4:652742-656407;4:660321-661795;4:664193-671649;4:72448-2110334;4:72448-2327204;4:72448-2691306;4:72448-3208040;4:72448-3563382;4:72448-3725774;4:72448-3787112;4:72448-4360445;4:72448-4889835;4:72448-5036718;4:72448-5214111;4:72448-5346537;4:72448-6245152;4:72448-7831152;4:75743-8672411;4:778745-819917;4:78471-3364946;4:8271481-8308825;4:85041-1921232;4:85041-2010262;4:85041-4407509;4:85041-7065426;4:85041-7845343;4:8613755-8873340;4:8868774-8873565;4:980776-981040;4:980776-981747;4:990308-992083;4:990309-992082;4:993498-998345;4:994391-998355;4:996510-998192;4:996511-998191;4:996511-998355 dbVar:nssv15165478;dbVar:nssv15148693;dbVar:nssv15149137;dbVar:nssv15125120;dbVar:nssv15134956;dbVar:nssv15136789;dbVar:nssv15148117;dbVar:nssv15165480;dbVar:nssv15164282;dbVar:nssv15164281;dbVar:nssv16215300;dbVar:nssv15145847;dbVar:nssv15132087;dbVar:nssv15132302;dbVar:nssv16254944;dbVar:nssv16207938;dbVar:nssv18830986;dbVar:nssv15150724;dbVar:nssv15777261;dbVar:nssv15151365;nssv18326348;dbVar:nssv15150634;dbVar:nssv15142189;dbVar:nssv15149870;nssv15151360;dbVar:nssv17649922;dbVar:nssv15147407;dbVar:nssv15146379;dbVar:nssv15146614;dbVar:nssv15148043;dbVar:nssv15146983;dbVar:nssv15146984;dbVar:nssv17976755;dbVar:nssv18841857;dbVar:nssv18841859;dbVar:nssv15164312;dbVar:nssv18841858;dbVar:nssv15149115 4:11526-191028879;4:12441-190904441;4:12441-49064044;4:33575-6632513;4:36425-1583294;4:36425-4098729;4:36425-47493612;4:49451-190915650;4:49451-190963766;4:49451-46339070;4:49451-49620898;4:51414-17799819;4:51414-3776843;4:51414-8224525;4:68346-2503033;4:68346-27423424;4:68346-34512694;4:68346-3713599;4:68346-4051616;4:68346-49089361;4:68346-66440622;4:68346-8731855;4:68347-190957473;4:69672-29702595;4:72448-21024037;4:72448-33132242;4:72448-39478764;4:78471-15627196;4:85041-22451641;4:85041-38701987;4:114785-47569569;4:507006-49064194;4:507006-57939396;4:1356925-49659859;4:2906395-42965249;4:6447049-20490737 4.87;4.87;18.96;99.42;97.73;99.14;19.60;4.87;4.87;20.09;18.76;52.40;99.46;99.75;99.87;34.00;27.00;99.91;99.92;18.97;14.01;99.96;4.87;31.38;44.38;28.13;23.60;59.76;41.52;24.05;19.51;18.25;15.43;16.59;16.14;20.82 dbVar:nssv18330206;dbVar:nssv16254942;dbVar:nssv15140532;dbVar:nssv15129769;dbVar:nssv15124924;dbVar:nssv15139152;dbVar:nssv15136460;dbVar:nssv15138769;dbVar:nssv15136794;dbVar:nssv15139111;dbVar:nssv15145893;dbVar:nssv15145934;dbVar:nssv15134095;dbVar:nssv15147322;dbVar:nssv8639431;dbVar:nssv15164280;dbVar:nssv16208663;dbVar:nssv15123439;dbVar:nssv15135098;dbVar:nssv15146364;dbVar:nssv15121022;dbVar:nssv15119845;dbVar:nssv16207942;dbVar:nssv15151269;dbVar:nssv15149902;dbVar:nssv15146789;dbVar:nssv17976873;dbVar:nssv15151109;dbVar:nssv17957198;dbVar:nssv15137532;dbVar:nssv15148266;dbVar:nssv17956854;dbVar:nssv17976719;dbVar:nssv16254943;dbVar:nssv16207937;dbVar:nssv15152168;dbVar:nssv15141218;dbVar:nssv16254952;dbVar:nssv15150277;dbVar:nssv17976824;dbVar:nssv16254953;dbVar:nssv15139308;dbVar:nssv16207941;dbVar:nssv15138820;nssv16207940;dbVar:nssv16207939;dbVar:nssv18330137;dbVar:nssv18330792;dbVar:nssv17649921;dbVar:nssv15150501;dbVar:nssv15146961;dbVar:nssv15146716;dbVar:nssv15147405;dbVar:nssv15146665;dbVar:nssv15146669;dbVar:nssv15146272;dbVar:nssv15146661;dbVar:nssv15146276;dbVar:nssv15774427;dbVar:nssv15151369;dbVar:nssv15145981;dbVar:nssv16207944 4:2-12785001;4:2-1328868;4:29215-1925508;4:33575-2356516;4:33575-4534781;4:36425-1957819;4:36425-3267258;4:36425-3883057;4:36425-3975771;4:36425-7361544;4:36425-9371067;4:37337-15870679;4:37337-3776839;4:37337-9370984;4:44021-19796182;4:49451-2010397;4:49451-24280482;4:49451-8872474;4:51414-1399150;4:56773-14501384;4:56773-2214932;4:56773-3872380;4:68346-10312798;4:68346-10336032;4:68346-13770107;4:68346-14614077;4:68346-1512353;4:68346-15973383;4:68346-1675143;4:68346-1999185;4:68346-20387231;4:68346-20587167;4:68346-20964575;4:68346-2137211;4:68346-2786584;4:68346-3891984;4:68346-4044985;4:68346-5046326;4:68346-5319773;4:68346-5579467;4:68346-5831521;4:68346-6056753;4:68346-6984507;4:68346-8731855;4:68346-9768141;4:68347-12369983;4:68347-2437290;4:68599-18912995;4:71553-15302739;4:71553-29006745;4:72448-10252290;4:72448-12900236;4:72448-15659658;4:72448-17279636;4:72448-28067931;4:78471-10337237;4:85041-17488365;4:3374196-13468480;4:4165335-33324781;4:4428131-17462172;4:5914110-17264668 72.74;94.62;97.77;98.37;99.16;98.17;98.91;99.09;99.11;99.52;99.62;58.73;99.09;99.63;47.08;98.87;38.38;99.75;98.51;64.38;99.32;99.61;90.78;90.57;67.87;63.93;99.78;58.47;99.80;99.83;45.77;45.32;44.50;99.84;99.88;99.92;99.92;99.94;99.94;99.94;99.94;99.95;99.95;99.96;95.87;75.60;99.86;49.35;61.06;32.14;91.34;72.49;59.66;54.04;33.21;90.58;53.36;59.41;17.85;37.92;30.46 809 4p_partial_monosomy_syndrome;Abnormality_of_mucopolysaccharide_metabolism;Abnormality_of_the_cervical_spine;Abnormality_of_the_diaphragm;Abnormality_of_the_musculature;Abnormality_of_the_nervous_system;Abnormality_of_the_vertebral_column;Acanthosis_nigricans;Achondroplasia;Arachnodactyly;Autosomal_dominant_nonsyndromic_hearing_loss_6;Autosomal_recessive_retinitis_pigmentosa;Bell-shaped_thorax;Bowed_humerus;Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome;Carcinoma;Carcinoma_of_colon;Cataract_41;Cerebellar_vermis_hypoplasia;Cervical_cancer;Cleft_palate;Colorectal_cancer;Cone-rod_dystrophy;Congenital_Stationary_Night_Blindness,_Dominant;Congenital_laryngomalacia;Congenital_myasthenic_syndrome;Congenital_myasthenic_syndrome_10;Congenital_stationary_night_blindness_autosomal_dominant_2;Connective_tissue_disorder;Coronal_craniosynostosis;Craniosynostosis_syndrome;Crouzon_syndrome;Crouzon_syndrome-acanthosis_nigricans_syndrome;Curry-Hall_syndrome;DOK7-related_condition;Dandy-Walker_syndrome;Developmental_and_epileptic_encephalopathy,_63;Diabetes_mellitus;Diaphragmatic_eventration;Disproportionate_short-limb_short_stature;Duane_retraction_syndrome;EVC-related_condition;EVC2-related_condition;Ellis-van_Creveld_syndrome;Emm-null_phenotype;Epidermal_nevus;FGFR3-Related_Disorders;FGFR3-related_chondrodysplasia;FGFR3-related_condition;FGFR3-related_disorder;Facial_asymmetry;Feeding_difficulties;Femoral_bowing;Fetal_akinesia_deformation_sequence_1;Fetal_akinesia_deformation_sequence_3;Fibrous_dysplasia_of_jaw;Generalized_non-motor_(absence)_seizure;Germ_cell_tumor_of_testis;Global_developmental_delay;Growth_delay;Hamartoma;Hurler_syndrome;Hydronephrosis;Hydroureter;Hypochondroplasia;Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome;Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome;IDUA-related_condition;Inborn_genetic_diseases;Infantile_axial_hypotonia;Intellectual_disability,_autosomal_recessive_53;Interstitial_pneumonitis;Isolated_microphthalmia_6;Jeune_thoracic_dystrophy;Larsen_syndrome;Leber_congenital_amaurosis;Lethal_short-limbed_short_stature;Levy-Hollister_syndrome;Lower_limb_undergrowth;Lung_adenocarcinoma;MSX1-related_condition;Malignant_tumor_of_testis;Malignant_tumor_of_urinary_bladder;Microglossia;Micrognathia;Mucopolysaccharidosis;Mucopolysaccharidosis,_MPS-I-H/S;Mucopolysaccharidosis,_MPS-I-S;Mucopolysaccharidosis,_MPS-IV-A;Mucopolysaccharidosis_type_1;Mucopolysacchariduria;Muenke_syndrome;Multiple_myeloma;Myopia_23,_autosomal_recessive;NSD2_related_disorders;Narrow_chest;Neurodevelopmental_delay;Night_blindness;Nonsyndromic_genetic_hearing_loss;PDE6B-Related_Disorders;PDE6B-related_condition;PDE6B-related_disorder;PIGG-related_condition;Papillary_renal_cell_carcinoma,_sporadic;Rare_genetic_deafness;Rauch-Steindl_syndrome;Retinal_dystrophy;Retinitis_pigmentosa;Retinitis_pigmentosa_40;Rett_syndrome;Rod-cone_dystrophy;SEVERE_ACHONDRODYSPLASIA_WITH_DEVELOPMENTAL_DELAY_AND_ACANTHOSIS_NIGRICANS;Saethre-Chotzen_syndrome;Seborrheic_keratosis;See_cases;Seizure;Sensorineural_hearing_loss_disorder;Severe_achondroplasia-developmental_delay-acanthosis_nigricans_syndrome;Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly;Short_ribs;Short_stature;Skeletal_dysplasia;Skeletal_dysplasia_with_acanthosis_nigricans;Small_for_gestational_age;Small_hand;Smith-Magenis_Syndrome-like;Spermatocytic_seminoma;Squamous_cell_carcinoma_of_the_head_and_neck;Squamous_cell_lung_carcinoma;Syndromic_intellectual_disability;Thanatophoric_dysplasia;Thanatophoric_dysplasia,_type_2;Thanatophoric_dysplasia_type_1;Transitional_cell_carcinoma_of_the_bladder;Type_2_diabetes_mellitus;Type_IV_short_rib_polydactyly_syndrome;Tyrosinase-positive_oculocutaneous_albinism;Unilateral_renal_agenesis;Upper_limb_undergrowth;Urinary_bladder_carcinoma;WFS1-Related_Spectrum_Disorders;WFS1-related_condition;WFS1-related_disorder;Wolf-Hirschhorn_like_syndrome;Wolfram-like_syndrome;Wolfram_syndrome;Wolfram_syndrome_1;not_specified chr4:21300-72378 dbVar;chr4:71970-524981 dbVar;chr4:73133-74170 dbVar;chr4:85610-147335 dbVar;chr4:103000-188000 dbVar;chr4:132436-152893 dbVar;chr4:138870-148818 dbVar;chr4:152769-183508 dbVar;chr4:155278-175992 dbVar;chr4:162000-167500 dbVar;chr4:191270-254556 dbVar;chr4:262616-285681 dbVar;chr4:271244-271302 dbVar;chr4:295501-331199 dbVar;chr4:307937-308376 dbVar;chr4:335381-378075 dbVar;4:401040-401369 1000g;chr4:543700-551000 dbVar;chr4:556278-557708 dbVar;chr4:556316-557119 dbVar... 4:12282-121562 esv2763806;chr4:67914-130131 dbVar;chr4:72378-125835 dbVar;4:73133-74170 gnomAD-SV_v2.1_DUP_4_10814;chr4:86159-87031 dbVar;chr4:129745-155494 dbVar;chr4:138786-148918 dbVar;4:138871-148818 1000g;chr4:154425-188523 dbVar;chr4:155494-174423 dbVar;chr4:166964-186650 dbVar;chr4:251718-251943 dbVar;chr4:264283-265776 dbVar;chr4:293298-293354 dbVar;chr4:297194-398976 dbVar;chr4:308401-399950 dbVar;chr4:381471-427496 dbVar;chr4:479000-491000 dbVar;4:548827-549483 IMH;chr4:556315-559071 dbVar... chr4:69000-224200 dbVar;chr4:90243-101974 dbVar;chr4:90308-102025 dbVar;4:91367-96776 1000g;chr4:114840-117344 dbVar;chr4:120580-120638 dbVar;chr4:127000-307000 dbVar;chr4:138218-138889 dbVar;chr4:141289-187522 dbVar;chr4:144992-145089 dbVar;chr4:154845-154912 dbVar;chr4:160511-164534 dbVar;chr4:194252-194740 dbVar;chr4:198780-199558 dbVar;chr4:212942-226976 dbVar;chr4:237038-239475 dbVar;chr4:244793-248873 dbVar;chr4:249822-249919 dbVar;chr4:260746-265323 dbVar;4:263958-264238 esv2665266... chr4:67914-130131 dbVar;chr4:72279-204237 dbVar;4:90244-101974 1000g;chr4:91366-96776 dbVar;chr4:91373-96776 dbVar;chr4:119685-128703 dbVar;chr4:126571-135658 dbVar;chr4:128533-168126 dbVar;chr4:138870-148818 dbVar;chr4:141363-187545 dbVar;chr4:152769-183508 dbVar;4:156233-158501 nsv515005;chr4:160901-161000 dbVar;chr4:198668-199069 dbVar;4:209407-209857 DDD:12676;chr4:231372-238511 dbVar;chr4:244791-248846 dbVar;4:244794-248873 1000g;chr4:260724-264299 dbVar;chr4:260949-261120 dbVar... 350019;114017;67152;46048;46518;46741;127417;127609;127611;127614;161882;283299;293074;345517;138595;44907;805614;96043;121153;129024;155921;825063;873166;106199;346122;124794;125321;125450;61253;32937;33052;42624;42918;42920;121154;51264;68579;37490;37729;37746;59962;644212;70954;71346;88010;134575;136254;137603;277083;62340;38753;... loss;gain 0.445 0.425 4:9370857-9371011 MER5B 4:9357712-9469143;4:9357889-9408758;4:9357889-9408758;4:9362634-9457876 4:9199301-9371400 High Signal Region 3 1.29231994213647 1.20702378077388 1.11611247300207 3.25348988684008 5.41905620095129 194648;616918;180072;605032;610130;252800;612041;602618;614632;134934;604407;602952;610647;602104;102680;613004;610285;104225;104250;142983;607261;604831;606201;142992 yes yes 0 1.0000e+00 1.0000e+00 1.9 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_loss_source, +1.00);3C (152 genes, +0.90);5F (+0.00) 5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.3 ZNF595 NM_001286052 2 53214 88096 16544 1709 92 yes 8 intron2-txEnd CDS-3'UTR 12103 5' 71552 88096 dbVar;esv2763806 4:12282-121562;chr4:67914-130131 0.0100 dbVar chr4:67914-130131;chr4:69000-224200 0.01 93 -2.08573739588537 -0.684191486481177 152687 6 3.0550e-01 1.7753e-05 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.3 ZNF718 NM_001039127 6 124382 157952 33570 1239 100 no 6 txStart-txEnd 5'UTR-3'UTR 124382 157952 dbVar chr4:71970-524981;chr4:103000-188000 0.01 dbVar chr4:69000-224200;chr4:72279-204237 0.01 255403 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.3 ZNF876P NR_027481 1 206388 249774 43386 0 0 no 2 txStart-txEnd UTR 206388 249774 dbVar chr4:71970-524981;chr4:191270-254556 0.01 dbVar chr4:127000-307000 0.01 642280 full=5 @@ -98,8 +98,8 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.3 GAK NM_005255 4 843064 926104 83040 3936 100 no 28 txStart-txEnd 5'UTR-3'UTR 843064 926104 304632;304633 loss 66.55 1.00920516918233 -1.32268830826731 -0.753758448502777 -1.09712093422474 -0.06853474623291 2580 1 5.1818e-03 9.7313e-01 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.3 TMEM175 NM_032326 4 926247 952444 26197 1515 100 no 11 txStart-txEnd 5'UTR-3'UTR 926247 952444 1068686;772688 loss 72.33 0.68130369659025 -0.684900012122083 -0.281672783681246 -0.335178666431938 -0.288196719712539 84286 6 3.0549e-09 4.3963e-04 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.3 DGKQ NM_001347 4 952674 967357 14683 2829 100 no 23 txStart-txEnd 5'UTR-3'UTR 952674 967357 855622 loss 68.02 0.720690705407562 -0.962987167732907 -0.540807434627598 -0.885541042446365 0.113301977907898 1609 3 1.7603e-09 1.1940e-03 full=5 -4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.3 SLC26A1 NM_022042 4 981444 987192 5748 2106 100 no 3 txStart-txEnd 5'UTR-3'UTR 981444 987192 19 Abnormality_of_mucopolysaccharide_metabolism;Hurler_syndrome;IDUA-related_condition;Interstitial_pneumonitis;Mucopolysaccharidosis;Mucopolysaccharidosis,_MPS-I-H/S;Mucopolysaccharidosis,_MPS-I-S;Mucopolysaccharidosis_type_1 dbVar chr4:968425-1004663 0.01 74.45 0.0296456908307138 -0.811800830743971 -0.614175007315312 -0.960716353370505 -0.560975494729554 nephrolithiasis susceptibility caused by SLC26A1 AR Limited;Moderate 24250268;27210743 10861 610130 ?Hypersulfaturia, 620372 (3) AR;?Nephrolithiasis, calcium oxalate, 1, 167030 (3) AR AR yes yes 8 1.0564e-11 4.0130e-06 full=5 -4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.3 IDUA NM_000203 5 980831 998352 17521 1962 100 no 14 txStart-txEnd 5'UTR-3'UTR 980831 998352 Hurler_syndrome;Mucopolysaccharidosis Ih, 607014 (3) AR;Mucopolysaccharidosis Ih;s, 607015 (3) AR;Mucopolysaccharidosis Is, 607016 (3) AR;Mucopolysaccharidosis_type_1 HP:0000943 CLN:2672009;CLN:961843;dbVar:nssv16216714;dbVar:nssv18830727;morbid:IDUA 4:990308-992083;4:990309-992082;4:993498-998345;4:996510-998192;4:996511-998191 190 Abnormality_of_mucopolysaccharide_metabolism;Hurler_syndrome;IDUA-related_condition;Inborn_genetic_diseases;Interstitial_pneumonitis;Mucopolysaccharidosis;Mucopolysaccharidosis,_MPS-I-H/S;Mucopolysaccharidosis,_MPS-I-S;Mucopolysaccharidosis,_MPS-IV-A;Mucopolysaccharidosis_type_1;Mucopolysacchariduria;See_cases dbVar chr4:968425-1004663 0.01 772749 loss 30 69.73 -1.6058292542185 -1.19882139820352 -1.40825779214199 -0.0473365386141676 0.337473103766752 Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;mucopolysaccharidosis type 1 AR Definitive;Strong;Supportive 10466419;10735634;11735025;21394825;21480867;22976768;23917744;4221470;6821579;7550232;7951228;8328452;8664897;8680403[PMID];9391892 3425 252800 Mucopolysaccharidosis Ih, 607014 (3) AR;Mucopolysaccharidosis Ih/s, 607015 (3) AR;Mucopolysaccharidosis Is, 607016 (3) AR AR yes yes 6 3.7599e-13 2.6418e-08 full=5 +4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.3 SLC26A1 NM_022042 4 981444 987192 5748 2106 100 no 3 txStart-txEnd 5'UTR-3'UTR 981444 987192 19 Abnormality_of_mucopolysaccharide_metabolism;Hurler_syndrome;IDUA-related_condition;Interstitial_pneumonitis;Mucopolysaccharidosis;Mucopolysaccharidosis,_MPS-I-H/S;Mucopolysaccharidosis,_MPS-I-S;Mucopolysaccharidosis_type_1 dbVar chr4:968425-1004663 0.01 74.45 0.0296456908307138 -0.811800830743971 -0.614175007315312 -0.960716353370505 -0.560975494729554 nephrolithiasis susceptibility caused by SLC26A1 AR Limited;Moderate 24250268;27210743 10861 610130 ?Hypersulfaturia, 620372 (3) AR;?Nephrolithiasis, calcium oxalate, 1, 167030 (3) AR AR yes 8 1.0564e-11 4.0130e-06 full=5 +4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.3 IDUA NM_000203 5 980831 998352 17521 1962 100 no 14 txStart-txEnd 5'UTR-3'UTR 980831 998352 Hurler_syndrome;Mucopolysaccharidosis Ih, 607014 (3) AR;Mucopolysaccharidosis Ih;s, 607015 (3) AR;Mucopolysaccharidosis Is, 607016 (3) AR;Mucopolysaccharidosis_type_1 HP:0000943 CLN:2672009;CLN:961843;dbVar:nssv16216714;dbVar:nssv18830727;morbid:IDUA 4:990308-992083;4:990309-992082;4:993498-998345;4:996510-998192;4:996511-998191 190 Abnormality_of_mucopolysaccharide_metabolism;Hurler_syndrome;IDUA-related_condition;Inborn_genetic_diseases;Interstitial_pneumonitis;Mucopolysaccharidosis;Mucopolysaccharidosis,_MPS-I-H/S;Mucopolysaccharidosis,_MPS-I-S;Mucopolysaccharidosis,_MPS-IV-A;Mucopolysaccharidosis_type_1;Mucopolysacchariduria;See_cases dbVar chr4:968425-1004663 0.01 772749 loss 30 69.73 -1.6058292542185 -1.19882139820352 -1.40825779214199 -0.0473365386141676 0.337473103766752 Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;mucopolysaccharidosis type 1 AR Definitive;Strong;Supportive 10466419;10735634;11735025;21394825;21480867;22976768;23917744;4221470;6821579;7550232;7951228;8328452;8664897;8680403[PMID];9391892 3425 252800 Mucopolysaccharidosis Ih, 607014 (3) AR;Mucopolysaccharidosis Ih/s, 607015 (3) AR;Mucopolysaccharidosis Is, 607016 (3) AR AR yes 6 3.7599e-13 2.6418e-08 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.3 FGFRL1 NM_001004356 3 1005413 1020686 15273 1515 100 no 7 txStart-txEnd 5'UTR-3'UTR 1005413 1020686 dbVar chr4:997718-1171806 0.01 dbVar chr4:993000-1180000 0.01 0 0 61.34 0.15762668797229 -0.095835364724166 0.0269779205648351 -1.06125182633592 -0.304110728864919 53834 3 1.1908e-02 5.8219e-01 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.3 RNF212 NM_001131034 4 1065265 1107352 42087 894 100 no 10 txStart-txEnd 5'UTR-3'UTR 1065265 1107352 ?Spermatogenic failure 62, 619673 (3) AR;Recombination rate QTL 1, 612042 (3) morbid:RNF212 4:1087097-1107352 dbVar chr4:997718-1171806 0.01 dbVar chr4:993000-1180000 0.01 955619;795738;276362;1923747;2046676;2644075;3054775;1147378;2658712;263967 gain;loss 88.48 -1.10887487197032 -0.266612828851805 -0.582493556461374 0.70441463212366 -0.142173437306223 spermatogenic failure 62 AR Limited 25342176;31125047 285498 612041 ?Spermatogenic failure 62, 619673 (3) AR;Recombination rate QTL 1, 612042 (3) AR yes yes 4 1.5645e-03 1.2523e-01 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.3 LOC105374344 NR_134676 1 1107426 1126763 19337 0 0 no 3 txStart-txEnd UTR 1107426 1126763 dbVar chr4:997718-1171806 0.01 dbVar chr4:993000-1180000 0.01 full=5 @@ -175,7 +175,7 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 JAKMIP1-DT NR_037863 1 6202459 6235663 33204 0 0 no 4 txStart-txEnd UTR 6202459 6235663 dbVar chr4:5960239-6587328 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 285484 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 WFS1 NM_001145853 1 6271576 6304992 33416 2673 100 no 8 txStart-txEnd 5'UTR-3'UTR 6271576 6304992 ?Cataract 41, 116400 (3) AD;Deafness, AD 6;14;38, 600965 (3) AD;Wolfram syndrome 1, 222300 (3) AR;Wolfram-like syndrome, AD, 614296 (3) AD;Diabetes mellitus, noninsulin-dependent, association with, 125853 (3) AD dbVar:nssv18790633;morbid:WFS1 4:6271577-6304992;4:6279184-6279434 114 Abnormality_of_the_cervical_spine;Abnormality_of_the_diaphragm;Abnormality_of_the_vertebral_column;Arachnodactyly;Autosomal_dominant_nonsyndromic_hearing_loss_6;Cataract_41;Cerebellar_vermis_hypoplasia;Cleft_palate;Congenital_laryngomalacia;Dandy-Walker_syndrome;Diabetes_mellitus;Diaphragmatic_eventration;Duane_retraction_syndrome;Feeding_difficulties;Global_developmental_delay;Hydronephrosis;Hydroureter;Inborn_genetic_diseases;Microglossia;Micrognathia;Night_blindness;Nonsyndromic_genetic_hearing_loss;Rare_genetic_deafness;See_cases;Sensorineural_hearing_loss_disorder;Small_hand;Type_2_diabetes_mellitus;WFS1-Related_Spectrum_Disorders;WFS1-related_condition;WFS1-related_disorder;Wolfram-like_syndrome;Wolfram_syndrome;Wolfram_syndrome_1 dbVar chr4:5960239-6587328 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 973360;107748;44904;51246;59959;67149;32350;320364 gain;loss 0 0 33.79 0.279433736423428 0.30418592454869 0.420298457025828 Wolfram syndrome;Wolfram syndrome 1;Wolfram-like syndrome;autosomal dominant nonsyndromic hearing loss;autosomal dominant nonsyndromic hearing loss 6;cataract 41;early-onset nuclear cataract;type 2 diabetes mellitus AD;AR Definitive;Limited;Strong;Supportive 10521293;11161832;11295831;11317648;11709537;11709538;12073007;12107816;12707373;12754709;12955714;14724730;15070927;15151504;15277431;15503287;15605410;16151413;16442662;16459465;16648378;16806192;16806192[PMID]_12913071[PMID];17492394;17568405;18544103;18660851;18806274;19042979;19160074;20069065;20069065[PMID]_20301750[PMID];20301607[PMID]_24148127[PMID];20875904;21067485;21446023;21538838;21564155;21602428;21623591;21726277;21823543;21968327;22226368;222300;22238590;22311385;22781099;23103830;23373429;23531866;23531866[PMID];243330;248846;251462;25250959;25390390;27395765;28802351;29529044;31313226;31555371;34014271;35018440;606201;9771706 7466 606201 ?Cataract 41, 116400 (3) AD;Deafness, AD 6/14/38, 600965 (3) AD;Wolfram syndrome 1, 222300 (3) AR;Wolfram-like syndrome, AD, 614296 (3) AD;(Diabetes mellitus, noninsulin-dependent, association with), 125853 (3) AD AD;AR yes yes 9 1.6231e-38 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 PPP2R2C NM_020416 4 6322307 6474341 152034 1344 100 no 9 txStart-txEnd 5'UTR-3'UTR 6322307 6474341 dbVar chr4:5960239-6587328 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 772379;26138;592497;772380;448916;195136;195737;195780;320366;772381;97607;93866;840298;434816;74069;277029;373837;547730;460364;1004835;869945;250336;311600;547731;772386;772387;772388;422017;416592;807978;20850;28306;416593;1027612;1027638;1027613 loss;gain 50.29 0.338434929038259 0.422718688109719 0.476236130280707 -0.54023780146542 4.10111380803453 5522 1 8.9954e-01 5.6445e-01 full=5 -4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 MAN2B2 NM_015274 3 6576915 6625089 48174 3030 100 no 19 txStart-txEnd 5'UTR-3'UTR 6576915 6625089 dbVar chr4:6438729-6651391 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 311602;472835;322698;302039;224062;224313;289114 loss;gain 83.66 -1.20308868163847 -0.039423685654856 -0.514512683951566 0.311204487601666 -0.733522379663636 23324 5 6.5570e-23 4.3573e-18 full=5 +4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 MAN2B2 NM_015274 3 6576915 6625089 48174 3030 100 no 19 txStart-txEnd 5'UTR-3'UTR 6576915 6625089 dbVar chr4:6438729-6651391 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 311602;472835;322698;302039;224062;224313;289114 loss;gain 83.66 -1.20308868163847 -0.039423685654856 -0.514512683951566 0.311204487601666 -0.733522379663636 MAN2B2 deficiency AR Limited 23324 5 6.5570e-23 4.3573e-18 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 MRFAP1 NM_001272053 2 6642411 6644456 2045 384 96 no 3 txStart-txEnd 5'UTR-3'UTR 6642411 6644456 dbVar chr4:6438729-6651391 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 78.84 0.686792213866423 0.236901723651345 0.49521306481059 0.837271434822507 2.12628699887071 93621 6 3.1404e-01 1.7706e-01 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 LINC02482 NR_134664 1 6672454 6675608 3154 0 0 no 2 txStart-txEnd UTR 6672454 6675608 dbVar chr4:6666000-6686000 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 105374366 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 LOC93622 NM_138699 3 6675801 6677774 1973 360 19 no 1 txStart-txEnd 5'UTR-3'UTR 6675801 6677774 dbVar chr4:6666000-6686000 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 full=5 @@ -229,7 +229,7 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L9P NR_046416 1 9360107 9361700 1593 0 0 no 1 txStart-txEnd UTR 9360107 9361700 DDD:12912;IMH;dbVar;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 chr4:8951531-9485561;4:8951722-9487283;chr4:8952199-9486394;4:8952199-9486394;chr4:8958204-9492295;4:8958204-9492295;chr4:9009830-9541289;4:9009830-9541289;4:9043826-9467101;chr4:9140852-9677036;chr4:9324760-9371594;chr4:9324760-9423525;chr4:9324760-9617830 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 391627 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L30 NM_001256867 1 9364854 9366447 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9364854 9366447 DDD:12912;IMH;dbVar;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 chr4:8951531-9485561;4:8951722-9487283;chr4:8952199-9486394;4:8952199-9486394;chr4:8958204-9492295;4:8958204-9492295;chr4:9009830-9541289;4:9009830-9541289;4:9043826-9467101;chr4:9140852-9677036;chr4:9324760-9371594;chr4:9324760-9423525;chr4:9324760-9617830 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 94.83 728419 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L6P NR_027279 1 9369599 9370796 1197 0 0 no 1 txStart-txEnd UTR 9369599 9370796 DDD:12912;IMH;dbVar;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 chr4:8951531-9485561;4:8951722-9487283;chr4:8952199-9486394;4:8952199-9486394;chr4:8958204-9492295;4:8958204-9492295;chr4:9009830-9541289;4:9009830-9541289;4:9043826-9467101;chr4:9140852-9677036;chr4:9324760-9371594;chr4:9324760-9423525;chr4:9324760-9617830 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 391622 full=5 -7_72726579_74139390_DEL_1 7 72726579 74139390 -1412811 DEL Williams syndrom Pathogenic NA full q11.23 TRIM50;FKBP6;FZD9;BAZ1B;BCL7B;TBL2;MLXIPL;VPS37D;DNAJC30;BUD23;STX1A;MIR4284;ABHD11-AS1;ABHD11;CLDN3;CLDN4;METTL27;TMEM270;ELN;LIMK1;EIF4H;MIR590;LAT2;RFC2;CLIP2;GTF2IRD1;MIR10525;GTF2I;GTF2I-AS1 NSUN5 NCF1 29 ACOX1 (morbid/RE=mTL_miRNA);ACSL6 (morbid/RE=mTL_miRNA);AGO2 (morbid/RE=mTL_miRNA);AGTPBP1 (morbid/RE=mTL_miRNA);AKR1D1 (morbid/RE=mTL_miRNA);ALDH6A1 (morbid/RE=mTL_miRNA);ALDOA (morbid/RE=mTL_miRNA);APAF1 (morbid/RE=mTL_miRNA);APC (HI=3/morbid/RE=mTL_miRNA);APTX (morbid/RE=mTL_miRNA);ARSK (morbid/RE=mTL_miRNA);ATL3 (morbid/RE=mTL_miRNA);ATP13A3 (morbid/RE=mTL_miRNA);ATP6V0A2 (morbid/RE=mTL_miRNA);ATP6V1A (morbid/RE=mTL_miRNA);ATXN1 (morbid/RE=mTL_miRNA);B3GNT2 (morbid/RE=mTL_miRNA);BACH1 (morbid/RE=mTL_miRNA);BTG2 (morbid/RE=mTL_miRNA);BVES (morbid/RE=mTL_miRNA);C3 (morbid/RE=mTL_miRNA);CAPN15 (morbid/RE=mTL_miRNA);CASP10 (morbid/RE=mTL_miRNA);CBX4 (morbid/RE=mTL_miRNA);CD3D (morbid/RE=mTL_miRNA);CDC73 (HI=3/morbid/RE=mTL_miRNA);CDKN1B (HI=3/morbid/RE=mTL_miRNA);CHRNB1 (morbid/RE=mTL_miRNA);CISD2 (morbid/RE=mTL_miRNA);CITED2 (morbid/RE=mTL_miRNA);CLEC7A (morbid/RE=mTL_miRNA);CLN8 (morbid/RE=mTL_miRNA);COL18A1 (morbid/RE=mTL_miRNA);COX20 (morbid/RE=mTL_miRNA);COX6B1 (morbid/RE=mTL_miRNA);CPE (morbid/RE=mTL_miRNA);CPT1A (morbid/RE=mTL_miRNA);CRCP (morbid/RE=mTL_miRNA);CRIPT (morbid/RE=mTL_miRNA);CRTAP (morbid/RE=mTL_miRNA);CSNK1D (morbid/RE=mTL_miRNA);CTSB (morbid/RE=mTL_miRNA);CYCS (morbid/RE=mTL_miRNA);CYP51A1 (morbid/RE=mTL_miRNA);DARS2 (morbid/RE=mTL_miRNA);DBR1 (morbid/RE=mTL_miRNA);DNA2 (morbid/RE=mTL_miRNA);DNAAF3 (morbid/RE=mTL_miRNA);DNAJB13 (morbid/RE=mTL_miRNA);DNAJC3 (morbid/RE=mTL_miRNA)... dbVar:nssv15146175;nssv15148276;dbVar:nssv15146450;dbVar:nssv15147327;dbVar:nssv17955524;dbVar:nssv17976654 7:72766114-74133473;7:72766313-74133327;7:72766314-74042787;7:72766314-74133332;7:73944169-74138459 Cutis laxa, AD, 123700 (3) AD;Supravalvar aortic stenosis, 185500 (3) AD;Leber-like hereditary optic neuropathy, AR 1, 619382 (3) AR;Spermatogenic failure 77, 620103 (3) AR HI3:ELN;dbVar:nssv15128343;dbVar:nssv15128578;dbVar:nssv15130113;dbVar:nssv15130169;dbVar:nssv15140244;dbVar:nssv15141480;dbVar:nssv15145649;nssv15146804;nssv15153080;dbVar:nssv15146451;dbVar:nssv15146687;dbVar:nssv15146708;dbVar:nssv15151951;nssv15605841;dbVar:nssv15167740;dbVar:nssv15770120;dbVar:nssv16208140;dbVar:nssv16213814;dbVar:nssv16214480;dbVar:nssv16214500;dbVar:nssv17172745;dbVar:nssv17172746;dbVar:nssv17955650;dbVar:nssv17971140;dbVar:nssv18786274;dbVar:nssv18791884;dbVar:nssv18791887;morbid:DNAJC30;morbid:ELN;morbid:FKBP6 7:72726579-74139390;7:72742164-72772634;7:72766114-74133473;7:72766313-74133327;7:72766314-74133332;7:72772523-74133319;7:72996565-73597315;7:73023063-73524207;7:73095248-73097783;7:73150890-73604636;7:73187644-73501025;7:73442120-73484237;7:73442459-73483087;7:73442499-73442619;7:73442499-73483050;7:73442503-73484237;7:73442509-73483040;7:73442519-73449764;7:73442519-73483030;7:73444331-73476493;7:73449675-73483050;7:73461986-73483030;7:73470471-73498327;7:73471703-73483040;7:73482968-73483050;7:73482988-73484237;7:73791726-74133273 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) dbVar:nssv15777247;dbVar:nssv15168013;dbVar:nssv15161666;nssv15161679;dbVar:nssv15168014;dbVar:nssv15146013;dbVar:nssv15146778;dbVar:nssv15147714;dbVar:nssv15147012;dbVar:nssv15147013;dbVar:nssv15755212;dbVar:nssv15147334;dbVar:nssv15151509;dbVar:nssv15154519;dbVar:nssv15152109;dbVar:nssv15153678;dbVar:nssv15148173;dbVar:nssv15149887;dbVar:nssv15147399;dbVar:nssv15148904;dbVar:nssv15174166;dbVar:nssv15128409;dbVar:nssv15150793;dbVar:nssv16254014;dbVar:nssv15148877;dbVar:nssv18830985;dbVar:nssv15147014;dbVar:nssv15149513;dbVar:nssv15146773;dbVar:nssv15151227;dbVar:nssv15147017;dbVar:nssv15146395;dbVar:nssv15147458;dbVar:nssv15126184;dbVar:nssv17976854;dbVar:nssv15150228;dbVar:nssv15147556;dbVar:nssv15146449;dbVar:nssv15151508;dbVar:nssv15150733;dbVar:nssv15154518;dbVar:nssv17955880;dbVar:nssv18830970;dbVar:nssv15146933;dbVar:nssv16215249;dbVar:nssv15167739;TS3:ISCA-37392;dbVar:nssv15148970 7:10366-159119707;7:10705-159122532;7:43362-159119707;7:44936-159126310;7:62437464-75044630;7:71644078-78793387;7:71968213-74133332;7:72196406-74991125;7:72233836-74285345;7:72364527-73780265;7:72408603-74193374;7:72576873-74175429;7:72577022-74147166;7:72577022-74197846;7:72577022-74859638;7:72589516-74154603;7:72589516-74165401;7:72606410-74193403;7:72606410-74300084;7:72606451-74153206;7:72650008-74188572;7:72659675-74143240;7:72659675-74164894;7:72663963-74193403;7:72664462-74162586;7:72665463-74139573;7:72677174-74143140;7:72677302-74143060;7:72677302-74143240;7:72679398-74139573;7:72683245-74267189;7:72685735-74142327;7:72685764-74189674;7:72686959-74155067;7:72692113-74154497;7:72700128-74146858;7:72700415-74139573;7:72700525-74069858;7:72700525-74142256;7:72701019-74143240;7:72717346-74133310;7:72718278-74142256;7:72718279-74140708;7:72722982-74141840;7:72743984-74145064;7:72744456-74142510;7:72766314-74481540 0.89;0.89;0.89;0.89;11.21;19.76;64.97;50.55;68.87;74.43;79.16;88.38;89.98;87.17;61.89;90.27;89.65;89.02;83.42;91.34;91.83;95.23;93.86;92.37;94.31;95.84;96.37;96.39;96.38;96.76;89.20;96.99;93.94;96.23;96.61;97.66;98.17;98.10;97.99;97.96;99.35;99.22;99.32;99.57;99.60;99.78;80.05 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) dbVar:nssv15161318;dbVar:nssv15148211;dbVar:nssv15147057;dbVar:nssv15147200;dbVar:nssv16255682;dbVar:nssv15146320;dbVar:nssv15146676;dbVar:nssv16867365;dbVar:nssv15167734;dbVar:nssv15146211;dbVar:nssv16254015;dbVar:nssv15151112;dbVar:nssv15145801;dbVar:nssv15152099;dbVar:nssv17977008;dbVar:nssv15151511;dbVar:nssv17977009;dbVar:nssv15145887;dbVar:nssv15147427;dbVar:nssv15153677;dbVar:nssv15154521;dbVar:nssv16208139;dbVar:nssv15145827;dbVar:nssv15148206;dbVar:nssv15151289;dbVar:nssv18330757;dbVar:nssv15125131;dbVar:nssv17977011;dbVar:nssv15167735;dbVar:nssv15148192;dbVar:nssv15167736;dbVar:nssv15168977;dbVar:nssv18330770;dbVar:nssv16215159;dbVar:nssv15129678;dbVar:nssv15147158;dbVar:nssv15606134;dbVar:nssv15145898;dbVar:nssv15151092;dbVar:nssv15755220;dbVar:nssv17977017;dbVar:nssv15147160;dbVar:nssv15147159;dbVar:nssv15145802;dbVar:nssv15147457;dbVar:nssv15148226;dbVar:nssv15147515;dbVar:nssv15147502;dbVar:nssv15148195;dbVar:nssv15147550;dbVar:nssv17977015;dbVar:nssv15605840;dbVar:nssv17977014;dbVar:nssv15149859;dbVar:nssv17977016;dbVar:nssv15150016;dbVar:nssv15146951;dbVar:nssv16297072;dbVar:nssv18830737;dbVar:nssv15154517;nssv17977012;dbVar:nssv17977007;dbVar:nssv15146637;dbVar:nssv15149107;dbVar:nssv15150231;dbVar:nssv15150699;dbVar:nssv15150637;dbVar:nssv15151346;dbVar:nssv15148257;nssv17977121;dbVar:nssv15150643;dbVar:nssv15149860;dbVar:nssv15151090;dbVar:nssv18329614;dbVar:nssv18330419;dbVar:nssv18330223;dbVar:nssv15167737;dbVar:nssv15605774;dbVar:nssv8640006;dbVar:nssv15167738;dbVar:nssv15147726;dbVar:nssv15755221;HI3:ISCA-37392;dbVar:nssv15605838;dbVar:nssv15605839;dbVar:nssv15147324;dbVar:nssv15147329;dbVar:nssv15145670;dbVar:nssv15145679;nssv15146800;dbVar:nssv15146612;dbVar:nssv17977013;dbVar:nssv15124428;dbVar:nssv15776001;dbVar:nssv15120782;dbVar:nssv15148954;dbVar:nssv15147202 7:54186-159075079;7:62196743-75061986;7:68133295-72806397;7:68847340-77453149;7:68977231-73939510;7:70690331-81364973;7:70926113-72806397;7:71847969-73391310;7:72305672-74196360;7:72401087-74285345;7:72403118-76709600;7:72456605-76007380;7:72507130-74142327;7:72536981-74629034;7:72589196-74225562;7:72589516-74386749;7:72589516-74629034;7:72606410-74193403;7:72606410-74285345;7:72608515-74386749;7:72612043-74574641;7:72621723-76007380;7:72636007-74339014;7:72637825-74203685;7:72643632-74142190;7:72643633-74143060;7:72644632-74144422;7:72645014-74142190;7:72650107-74138603;7:72650121-74142256;7:72650266-74138603;7:72653307-74134911;7:72654783-74142190;7:72657229-74160300;7:72677238-74144422;7:72681398-74137354;7:72682339-74141250;7:72685735-74142327;7:72691243-74142190;7:72699383-74142329;7:72700128-74142190;7:72700415-74122179;7:72700415-74137354;7:72700415-74139573;7:72700415-74142327;7:72700415-74172913;7:72700415-74193403;7:72700415-74285345;7:72700511-74142190;7:72700525-74141494;7:72700943-74142190;7:72700997-74142190;7:72700997-74142256;7:72701019-74141493;7:72701085-74142190;7:72708238-74133273;7:72708238-74339044;7:72717370-74142224;7:72717396-74173168;7:72718124-74141784;7:72718124-74142190;7:72718253-74133273;7:72718253-74133332;7:72718278-73898515;7:72718278-74141494;7:72718278-74141603;7:72718278-74141746;7:72718278-74142190;7:72718278-74146858;7:72718278-74259899;7:72718278-74287433;7:72718279-74142256;7:72718279-74143060;7:72718279-74143240;7:72719387-74218536;7:72721450-73959106;7:72722982-74141840;7:72722982-74200092;7:72722982-74217390;7:72726591-74142329;7:72744456-74142510;7:72744495-74339044;7:72744495-76038818;7:72766313-74193397;7:72766313-74339030;7:72766314-74285345;7:72766314-74339044;7:72766314-76351578;7:72921551-74145628;7:73591994-75914797;7:73799887-75388031;7:73992745-74991125;7:73992745-81661058;7:73992745-83618176 0.89;10.98;1.71;16.42;24.44;13.24;4.25;43.07;74.72;74.98;32.81;39.79;86.40;67.53;86.34;78.61;69.27;89.02;84.15;79.45;71.99;41.73;82.96;90.23;94.28;94.22;94.20;94.37;94.86;94.68;94.87;95.05;94.98;93.99;96.29;96.90;96.84;96.99;97.37;97.91;97.97;98.16;98.18;98.17;97.98;95.95;94.63;89.14;98.00;98.05;98.03;98.03;98.03;98.08;98.04;98.71;86.63;99.15;97.05;99.24;99.21;99.41;99.41;99.30;99.27;99.26;99.25;99.22;98.90;91.64;90.04;99.22;99.16;99.15;94.24;99.59;99.57;95.65;94.54;99.79;99.78;87.48;42.34;96.22;87.31;90.39;87.31;38.30;99.49;23.57;21.38;14.69;1.91;1.52 104 Autism;Cutis_laxa,_autosomal_dominant_1;DNAJC30-associated_disorder;ELN-related_condition;Inborn_genetic_diseases;Intellectual_disability;Leber_hereditary_optic_neuropathy,_autosomal_recessive;Leber_optic_atrophy,_susceptibility_to;Male_infertility;Spermatogenic_failure_77;Supravalvar_aortic_stenosis;Williams_syndrome IMH 7:66631329-143298938;7:67635774-98083201 0.5000 chr7:72708999-74058000 dbVar;chr7:72726800-72740359 dbVar;chr7:72745614-72754503 dbVar;chr7:72774000-72782000 dbVar;chr7:72787000-72831100 dbVar;chr7:72816500-72830000 dbVar;chr7:72998471-72999058 dbVar;chr7:73055007-73067523 dbVar;chr7:73197500-73235415 dbVar;chr7:73225900-73232279 dbVar;chr7:73276238-73276581 dbVar;chr7:73299213-73301668 dbVar;chr7:73393992-73394499 dbVar;chr7:73499000-73506000 dbVar;chr7:73546829-73546880 dbVar;chr7:73583293-73584013 dbVar;chr7:73658948-73659640 dbVar;chr7:73674630-73681367 dbVar;chr7:73787553-73825589 dbVar;chr7:73831000-73836000 dbVar... chr7:72400589-72727075 dbVar;chr7:72719000-72789000 dbVar;chr7:72729000-72748000 dbVar;chr7:72767887-72767960 dbVar;chr7:72783612-72807457 dbVar;chr7:72811900-72819000 dbVar;chr7:72970000-72975000 dbVar;chr7:73014621-73015093 dbVar;chr7:73056768-73064674 dbVar;chr7:73220636-73223168 dbVar;chr7:73267370-73271012 dbVar;chr7:73283850-73286300 dbVar;chr7:73331000-73347000 dbVar;chr7:73432596-73433429 dbVar;chr7:73542648-73543250 dbVar;chr7:73581149-73582488 dbVar;chr7:73628409-73628785 dbVar;chr7:73660000-73666300 dbVar;chr7:73686041-73691825 dbVar;chr7:73815308-73815574 dbVar... chr7:72788610-72788928 dbVar;chr7:72792927-72794734 dbVar;chr7:72807457-72811747 dbVar;chr7:72809374-72811765 dbVar;chr7:72831507-72833102 dbVar;chr7:72831655-72833172 dbVar;7:72859067-72859930 DDD:24502;chr7:72859126-72859948 dbVar;chr7:72958486-72958582 dbVar;chr7:72976072-72983729 dbVar;chr7:73003322-73003446 dbVar;chr7:73047101-73047474 dbVar;chr7:73062999-73081000 dbVar;chr7:73072977-73073093 dbVar;chr7:73106347-73106427 dbVar;chr7:73157999-73206000 dbVar;chr7:73190196-73190548 dbVar;chr7:73196830-73198271 dbVar;chr7:73211482-73211654 dbVar;chr7:73223050-73223264 dbVar... chr7:72783921-72784587 dbVar;chr7:72790491-72790586 dbVar;chr7:72806431-72813279 dbVar;chr7:72809373-72811754 dbVar;7:72809386-72811787 DDD:24500;7:72831554-72833141 DDD:24501;chr7:72850871-72854146 dbVar;chr7:72859093-72859952 dbVar;chr7:72955017-72955274 dbVar;chr7:72962422-72963182 dbVar;chr7:73002815-73002896 dbVar;chr7:73023279-73023954 dbVar;chr7:73054513-73055107 dbVar;chr7:73065479-73067124 dbVar;chr7:73090809-73093167 dbVar;chr7:73146454-73146754 dbVar;chr7:73173329-73173399 dbVar;chr7:73196779-73198220 dbVar;chr7:73211482-73211632 dbVar;chr7:73222000-73236000 dbVar... 877501;108118;324755;325086;500342;500863;500908;302773;303106;303125;484486;484953;484961;484998;485028;554297;554388;554400;554408;554410;554411;554412;652674;513717;232773;232999;491805;491889;491904;622919;622936;79946;80091;80098;80110;1189277;1371704;2784756;838538;280114;281928;282158;844585;730219;575489;575912;575922;575950;576011;576029;477922;... gain;loss 0.370 0.355 7:72726181-72726486 AluSz 7:72700438-72744454;7:72700443-72744454 3 88.46 1.77201404347458 0.0159631069818757 0.491444562429841 2.70903614483931 4.23220859072885 604839;618202;130160 yes 0 1.0000e+00 1.0000e+00 1.45 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_loss_source, +1.00);3B (29 genes, +0.45);5F (+0.00) 5 +7_72726579_74139390_DEL_1 7 72726579 74139390 -1412811 DEL Williams syndrom Pathogenic NA full q11.23 TRIM50;FKBP6;FZD9;BAZ1B;BCL7B;TBL2;MLXIPL;VPS37D;DNAJC30;BUD23;STX1A;MIR4284;ABHD11-AS1;ABHD11;CLDN3;CLDN4;METTL27;TMEM270;ELN;LIMK1;EIF4H;MIR590;LAT2;RFC2;CLIP2;GTF2IRD1;MIR10525;GTF2I;GTF2I-AS1 NSUN5 NCF1 29 ACOX1 (morbid/RE=mTL_miRNA);ACSL6 (morbid/RE=mTL_miRNA);AGO2 (morbid/RE=mTL_miRNA);AGTPBP1 (morbid/RE=mTL_miRNA);AKR1D1 (morbid/RE=mTL_miRNA);ALDH6A1 (morbid/RE=mTL_miRNA);ALDOA (morbid/RE=mTL_miRNA);APC (HI=3/morbid/RE=mTL_miRNA);APTX (morbid/RE=mTL_miRNA);ARSK (morbid/RE=mTL_miRNA);ATL3 (morbid/RE=mTL_miRNA);ATP13A3 (morbid/RE=mTL_miRNA);ATP6V0A2 (morbid/RE=mTL_miRNA);ATP6V1A (morbid/RE=mTL_miRNA);ATXN1 (morbid/RE=mTL_miRNA);BACH1 (morbid/RE=mTL_miRNA);BVES (morbid/RE=mTL_miRNA);C3 (morbid/RE=mTL_miRNA);CAPN15 (morbid/RE=mTL_miRNA);CASP10 (morbid/RE=mTL_miRNA);CD3D (morbid/RE=mTL_miRNA);CDC73 (HI=3/morbid/RE=mTL_miRNA);CDKN1B (HI=3/morbid/RE=mTL_miRNA);CHRNB1 (morbid/RE=mTL_miRNA);CISD2 (morbid/RE=mTL_miRNA);CITED2 (morbid/RE=mTL_miRNA);CLEC7A (morbid/RE=mTL_miRNA);CLN8 (morbid/RE=mTL_miRNA);COL18A1 (morbid/RE=mTL_miRNA);COX20 (morbid/RE=mTL_miRNA);COX6B1 (morbid/RE=mTL_miRNA);CPE (morbid/RE=mTL_miRNA);CPT1A (morbid/RE=mTL_miRNA);CRIPT (morbid/RE=mTL_miRNA);CRTAP (morbid/RE=mTL_miRNA);CSNK1D (morbid/RE=mTL_miRNA);CTSB (morbid/RE=mTL_miRNA);CYCS (morbid/RE=mTL_miRNA);DARS2 (morbid/RE=mTL_miRNA);DBR1 (morbid/RE=mTL_miRNA);DNA2 (morbid/RE=mTL_miRNA);DNAAF3 (morbid/RE=mTL_miRNA);DNAJB13 (morbid/RE=mTL_miRNA);DNAJC3 (morbid/RE=mTL_miRNA);DSG3 (morbid/RE=mTL_miRNA);EDARADD (morbid/RE=mTL_miRNA);EIF2S3 (morbid/RE=mTL_miRNA);EIF4A2 (morbid/RE=mTL_miRNA);ELP2 (morbid/RE=mTL_miRNA);EMP2 (morbid/RE=mTL_miRNA)... dbVar:nssv15146175;nssv15148276;dbVar:nssv15146450;dbVar:nssv15147327;dbVar:nssv17955524;dbVar:nssv17976654 7:72766114-74133473;7:72766313-74133327;7:72766314-74042787;7:72766314-74133332;7:73944169-74138459 Cutis laxa, AD, 123700 (3) AD;Supravalvar aortic stenosis, 185500 (3) AD;Leber-like hereditary optic neuropathy, AR 1, 619382 (3) AR;Spermatogenic failure 77, 620103 (3) AR HI3:ELN;dbVar:nssv15128343;dbVar:nssv15128578;dbVar:nssv15130113;dbVar:nssv15130169;dbVar:nssv15140244;dbVar:nssv15141480;dbVar:nssv15145649;nssv15146804;nssv15153080;dbVar:nssv15146451;dbVar:nssv15146687;dbVar:nssv15146708;dbVar:nssv15151951;nssv15605841;dbVar:nssv15167740;dbVar:nssv15770120;dbVar:nssv16208140;dbVar:nssv16213814;dbVar:nssv16214480;dbVar:nssv16214500;dbVar:nssv17172745;dbVar:nssv17172746;dbVar:nssv17955650;dbVar:nssv17971140;dbVar:nssv18786274;dbVar:nssv18791884;dbVar:nssv18791887;morbid:DNAJC30;morbid:ELN;morbid:FKBP6 7:72726579-74139390;7:72742164-72772634;7:72766114-74133473;7:72766313-74133327;7:72766314-74133332;7:72772523-74133319;7:72996565-73597315;7:73023063-73524207;7:73095248-73097783;7:73150890-73604636;7:73187644-73501025;7:73442120-73484237;7:73442459-73483087;7:73442499-73442619;7:73442499-73483050;7:73442503-73484237;7:73442509-73483040;7:73442519-73449764;7:73442519-73483030;7:73444331-73476493;7:73449675-73483050;7:73461986-73483030;7:73470471-73498327;7:73471703-73483040;7:73482968-73483050;7:73482988-73484237;7:73791726-74133273 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) dbVar:nssv15777247;dbVar:nssv15168013;dbVar:nssv15161666;nssv15161679;dbVar:nssv15168014;dbVar:nssv15146013;dbVar:nssv15146778;dbVar:nssv15147714;dbVar:nssv15147012;dbVar:nssv15147013;dbVar:nssv15755212;dbVar:nssv15147334;dbVar:nssv15151509;dbVar:nssv15154519;dbVar:nssv15152109;dbVar:nssv15153678;dbVar:nssv15148173;dbVar:nssv15149887;dbVar:nssv15147399;dbVar:nssv15148904;dbVar:nssv15174166;dbVar:nssv15128409;dbVar:nssv15150793;dbVar:nssv16254014;dbVar:nssv15148877;dbVar:nssv18830985;dbVar:nssv15147014;dbVar:nssv15149513;dbVar:nssv15146773;dbVar:nssv15151227;dbVar:nssv15147017;dbVar:nssv15146395;dbVar:nssv15147458;dbVar:nssv15126184;dbVar:nssv17976854;dbVar:nssv15150228;dbVar:nssv15147556;dbVar:nssv15146449;dbVar:nssv15151508;dbVar:nssv15150733;dbVar:nssv15154518;dbVar:nssv17955880;dbVar:nssv18830970;dbVar:nssv15146933;dbVar:nssv16215249;dbVar:nssv15167739;TS3:ISCA-37392;dbVar:nssv15148970 7:10366-159119707;7:10705-159122532;7:43362-159119707;7:44936-159126310;7:62437464-75044630;7:71644078-78793387;7:71968213-74133332;7:72196406-74991125;7:72233836-74285345;7:72364527-73780265;7:72408603-74193374;7:72576873-74175429;7:72577022-74147166;7:72577022-74197846;7:72577022-74859638;7:72589516-74154603;7:72589516-74165401;7:72606410-74193403;7:72606410-74300084;7:72606451-74153206;7:72650008-74188572;7:72659675-74143240;7:72659675-74164894;7:72663963-74193403;7:72664462-74162586;7:72665463-74139573;7:72677174-74143140;7:72677302-74143060;7:72677302-74143240;7:72679398-74139573;7:72683245-74267189;7:72685735-74142327;7:72685764-74189674;7:72686959-74155067;7:72692113-74154497;7:72700128-74146858;7:72700415-74139573;7:72700525-74069858;7:72700525-74142256;7:72701019-74143240;7:72717346-74133310;7:72718278-74142256;7:72718279-74140708;7:72722982-74141840;7:72743984-74145064;7:72744456-74142510;7:72766314-74481540 0.89;0.89;0.89;0.89;11.21;19.76;64.97;50.55;68.87;74.43;79.16;88.38;89.98;87.17;61.89;90.27;89.65;89.02;83.42;91.34;91.83;95.23;93.86;92.37;94.31;95.84;96.37;96.39;96.38;96.76;89.20;96.99;93.94;96.23;96.61;97.66;98.17;98.10;97.99;97.96;99.35;99.22;99.32;99.57;99.60;99.78;80.05 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) dbVar:nssv15161318;dbVar:nssv15148211;dbVar:nssv15147057;dbVar:nssv15147200;dbVar:nssv16255682;dbVar:nssv15146320;dbVar:nssv15146676;dbVar:nssv16867365;dbVar:nssv15167734;dbVar:nssv15146211;dbVar:nssv16254015;dbVar:nssv15151112;dbVar:nssv15145801;dbVar:nssv15152099;dbVar:nssv17977008;dbVar:nssv15151511;dbVar:nssv17977009;dbVar:nssv15145887;dbVar:nssv15147427;dbVar:nssv15153677;dbVar:nssv15154521;dbVar:nssv16208139;dbVar:nssv15145827;dbVar:nssv15148206;dbVar:nssv15151289;dbVar:nssv18330757;dbVar:nssv15125131;dbVar:nssv17977011;dbVar:nssv15167735;dbVar:nssv15148192;dbVar:nssv15167736;dbVar:nssv15168977;dbVar:nssv18330770;dbVar:nssv16215159;dbVar:nssv15129678;dbVar:nssv15147158;dbVar:nssv15606134;dbVar:nssv15145898;dbVar:nssv15151092;dbVar:nssv15755220;dbVar:nssv17977017;dbVar:nssv15147160;dbVar:nssv15147159;dbVar:nssv15145802;dbVar:nssv15147457;dbVar:nssv15148226;dbVar:nssv15147515;dbVar:nssv15147502;dbVar:nssv15148195;dbVar:nssv15147550;dbVar:nssv17977015;dbVar:nssv15605840;dbVar:nssv17977014;dbVar:nssv15149859;dbVar:nssv17977016;dbVar:nssv15150016;dbVar:nssv15146951;dbVar:nssv16297072;dbVar:nssv18830737;dbVar:nssv15154517;nssv17977012;dbVar:nssv17977007;dbVar:nssv15146637;dbVar:nssv15149107;dbVar:nssv15150231;dbVar:nssv15150699;dbVar:nssv15150637;dbVar:nssv15151346;dbVar:nssv15148257;nssv17977121;dbVar:nssv15150643;dbVar:nssv15149860;dbVar:nssv15151090;dbVar:nssv18329614;dbVar:nssv18330419;dbVar:nssv18330223;dbVar:nssv15167737;dbVar:nssv15605774;dbVar:nssv8640006;dbVar:nssv15167738;dbVar:nssv15147726;dbVar:nssv15755221;HI3:ISCA-37392;dbVar:nssv15605838;dbVar:nssv15605839;dbVar:nssv15147324;dbVar:nssv15147329;dbVar:nssv15145670;dbVar:nssv15145679;nssv15146800;dbVar:nssv15146612;dbVar:nssv17977013;dbVar:nssv15124428;dbVar:nssv15776001;dbVar:nssv15120782;dbVar:nssv15148954;dbVar:nssv15147202 7:54186-159075079;7:62196743-75061986;7:68133295-72806397;7:68847340-77453149;7:68977231-73939510;7:70690331-81364973;7:70926113-72806397;7:71847969-73391310;7:72305672-74196360;7:72401087-74285345;7:72403118-76709600;7:72456605-76007380;7:72507130-74142327;7:72536981-74629034;7:72589196-74225562;7:72589516-74386749;7:72589516-74629034;7:72606410-74193403;7:72606410-74285345;7:72608515-74386749;7:72612043-74574641;7:72621723-76007380;7:72636007-74339014;7:72637825-74203685;7:72643632-74142190;7:72643633-74143060;7:72644632-74144422;7:72645014-74142190;7:72650107-74138603;7:72650121-74142256;7:72650266-74138603;7:72653307-74134911;7:72654783-74142190;7:72657229-74160300;7:72677238-74144422;7:72681398-74137354;7:72682339-74141250;7:72685735-74142327;7:72691243-74142190;7:72699383-74142329;7:72700128-74142190;7:72700415-74122179;7:72700415-74137354;7:72700415-74139573;7:72700415-74142327;7:72700415-74172913;7:72700415-74193403;7:72700415-74285345;7:72700511-74142190;7:72700525-74141494;7:72700943-74142190;7:72700997-74142190;7:72700997-74142256;7:72701019-74141493;7:72701085-74142190;7:72708238-74133273;7:72708238-74339044;7:72717370-74142224;7:72717396-74173168;7:72718124-74141784;7:72718124-74142190;7:72718253-74133273;7:72718253-74133332;7:72718278-73898515;7:72718278-74141494;7:72718278-74141603;7:72718278-74141746;7:72718278-74142190;7:72718278-74146858;7:72718278-74259899;7:72718278-74287433;7:72718279-74142256;7:72718279-74143060;7:72718279-74143240;7:72719387-74218536;7:72721450-73959106;7:72722982-74141840;7:72722982-74200092;7:72722982-74217390;7:72726591-74142329;7:72744456-74142510;7:72744495-74339044;7:72744495-76038818;7:72766313-74193397;7:72766313-74339030;7:72766314-74285345;7:72766314-74339044;7:72766314-76351578;7:72921551-74145628;7:73591994-75914797;7:73799887-75388031;7:73992745-74991125;7:73992745-81661058;7:73992745-83618176 0.89;10.98;1.71;16.42;24.44;13.24;4.25;43.07;74.72;74.98;32.81;39.79;86.40;67.53;86.34;78.61;69.27;89.02;84.15;79.45;71.99;41.73;82.96;90.23;94.28;94.22;94.20;94.37;94.86;94.68;94.87;95.05;94.98;93.99;96.29;96.90;96.84;96.99;97.37;97.91;97.97;98.16;98.18;98.17;97.98;95.95;94.63;89.14;98.00;98.05;98.03;98.03;98.03;98.08;98.04;98.71;86.63;99.15;97.05;99.24;99.21;99.41;99.41;99.30;99.27;99.26;99.25;99.22;98.90;91.64;90.04;99.22;99.16;99.15;94.24;99.59;99.57;95.65;94.54;99.79;99.78;87.48;42.34;96.22;87.31;90.39;87.31;38.30;99.49;23.57;21.38;14.69;1.91;1.52 104 Autism;Cutis_laxa,_autosomal_dominant_1;DNAJC30-associated_disorder;ELN-related_condition;Inborn_genetic_diseases;Intellectual_disability;Leber_hereditary_optic_neuropathy,_autosomal_recessive;Leber_optic_atrophy,_susceptibility_to;Male_infertility;Spermatogenic_failure_77;Supravalvar_aortic_stenosis;Williams_syndrome IMH 7:66631329-143298938;7:67635774-98083201 0.5000 chr7:72708999-74058000 dbVar;chr7:72726800-72740359 dbVar;chr7:72745614-72754503 dbVar;chr7:72774000-72782000 dbVar;chr7:72787000-72831100 dbVar;chr7:72816500-72830000 dbVar;chr7:72998471-72999058 dbVar;chr7:73055007-73067523 dbVar;chr7:73197500-73235415 dbVar;chr7:73225900-73232279 dbVar;chr7:73276238-73276581 dbVar;chr7:73299213-73301668 dbVar;chr7:73393992-73394499 dbVar;chr7:73499000-73506000 dbVar;chr7:73546829-73546880 dbVar;chr7:73583293-73584013 dbVar;chr7:73658948-73659640 dbVar;chr7:73674630-73681367 dbVar;chr7:73787553-73825589 dbVar;chr7:73831000-73836000 dbVar... chr7:72400589-72727075 dbVar;chr7:72719000-72789000 dbVar;chr7:72729000-72748000 dbVar;chr7:72767887-72767960 dbVar;chr7:72783612-72807457 dbVar;chr7:72811900-72819000 dbVar;chr7:72970000-72975000 dbVar;chr7:73014621-73015093 dbVar;chr7:73056768-73064674 dbVar;chr7:73220636-73223168 dbVar;chr7:73267370-73271012 dbVar;chr7:73283850-73286300 dbVar;chr7:73331000-73347000 dbVar;chr7:73432596-73433429 dbVar;chr7:73542648-73543250 dbVar;chr7:73581149-73582488 dbVar;chr7:73628409-73628785 dbVar;chr7:73660000-73666300 dbVar;chr7:73686041-73691825 dbVar;chr7:73815308-73815574 dbVar... chr7:72788610-72788928 dbVar;chr7:72792927-72794734 dbVar;chr7:72807457-72811747 dbVar;chr7:72809374-72811765 dbVar;chr7:72831507-72833102 dbVar;chr7:72831655-72833172 dbVar;7:72859067-72859930 DDD:24502;chr7:72859126-72859948 dbVar;chr7:72958486-72958582 dbVar;chr7:72976072-72983729 dbVar;chr7:73003322-73003446 dbVar;chr7:73047101-73047474 dbVar;chr7:73062999-73081000 dbVar;chr7:73072977-73073093 dbVar;chr7:73106347-73106427 dbVar;chr7:73157999-73206000 dbVar;chr7:73190196-73190548 dbVar;chr7:73196830-73198271 dbVar;chr7:73211482-73211654 dbVar;chr7:73223050-73223264 dbVar... chr7:72783921-72784587 dbVar;chr7:72790491-72790586 dbVar;chr7:72806431-72813279 dbVar;chr7:72809373-72811754 dbVar;7:72809386-72811787 DDD:24500;7:72831554-72833141 DDD:24501;chr7:72850871-72854146 dbVar;chr7:72859093-72859952 dbVar;chr7:72955017-72955274 dbVar;chr7:72962422-72963182 dbVar;chr7:73002815-73002896 dbVar;chr7:73023279-73023954 dbVar;chr7:73054513-73055107 dbVar;chr7:73065479-73067124 dbVar;chr7:73090809-73093167 dbVar;chr7:73146454-73146754 dbVar;chr7:73173329-73173399 dbVar;chr7:73196779-73198220 dbVar;chr7:73211482-73211632 dbVar;chr7:73222000-73236000 dbVar... 877501;108118;324755;325086;500342;500863;500908;302773;303106;303125;484486;484953;484961;484998;485028;554297;554388;554400;554408;554410;554411;554412;652674;513717;232773;232999;491805;491889;491904;622919;622936;79946;80091;80098;80110;1189277;1371704;2784756;838538;280114;281928;282158;844585;730219;575489;575912;575922;575950;576011;576029;477922;... gain;loss 0.370 0.355 7:72726181-72726486 AluSz 7:72700438-72744454;7:72700443-72744454 3 88.46 1.77201404347458 0.0159631069818757 0.491444562429841 2.70903614483931 4.23220859072885 604839;618202;130160 yes 0 1.0000e+00 1.0000e+00 1.45 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_loss_source, +1.00);3B (29 genes, +0.45);5F (+0.00) 5 7_72726579_74139390_DEL_1 7 72726579 74139390 -1412811 DEL Williams syndrom Pathogenic NA split q11.23 TRIM50 NM_178125 3 72726531 72742085 15507 1464 100 no 7 txStart-exon7 5'UTR-3'UTR 928 3' 72726578 72742085 dbVar chr7:72708999-74058000;chr7:72719000-72789000 0.01 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 55.55 0.317380023327075 0.681275321847818 135892 7 1.5479e-10 2.7256e-06 full=5 7_72726579_74139390_DEL_1 7 72726579 74139390 -1412811 DEL Williams syndrom Pathogenic NA split q11.23 FKBP6 NM_003602 5 72742163 72772634 30471 984 100 no 9 txStart-txEnd 5'UTR-3'UTR 72742163 72772634 Spermatogenic failure 77, 620103 (3) AR morbid:FKBP6 7:72742164-72772634 1 Male_infertility;Spermatogenic_failure_77 dbVar chr7:72708999-74058000;chr7:72719000-72789000 0.01 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 65.69 1.49986407027643 1.4396607305099 spermatogenic failure 77 AR Moderate 8468 604839 Spermatogenic failure 77, 620103 (3) AR AR yes 5 1.3955e-06 1.3060e-01 full=5 7_72726579_74139390_DEL_1 7 72726579 74139390 -1412811 DEL Williams syndrom Pathogenic NA split q11.23 FZD9 NM_003508 3 72848107 72850450 2343 1776 84 no 1 txStart-txEnd 5'UTR-3'UTR 72848107 72850450 dbVar chr7:72708999-74058000 0.01 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 46.95 0.247827425263201 -1.18776035129969 -0.895389454591556 8326 4 1.9309e-03 full=5 @@ -259,39 +259,6 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 7_72726579_74139390_DEL_1 7 72726579 74139390 -1412811 DEL Williams syndrom Pathogenic NA split q11.23 MIR10525 NR_162116 1 74010294 74010353 59 0 0 no 1 txStart-txEnd UTR 74010294 74010353 dbVar chr7:72708999-74058000;chr7:74008364-74140675 0.01 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 113218504 full=5 7_72726579_74139390_DEL_1 7 72726579 74139390 -1412811 DEL Williams syndrom Pathogenic NA split q11.23 GTF2I NM_032999 4 74072043 74175022 67347 943 31 yes 35 txStart-intron12 5'UTR-CDS 3733 3' 74072043 74139390 dbVar chr7:74008364-74140675 0.01 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 529379;525619;534294;538338;776782;778027;776783;777959;777979;777991 loss;gain 0 0 33.5 0.964550444182401 4.23220859072885 2969 1 9.9592e-01 9.9935e-01 full=5 7_72726579_74139390_DEL_1 7 72726579 74139390 -1412811 DEL Williams syndrom Pathogenic NA split q11.23 GTF2I-AS1 NR_110044 1 74103270 74143256 36120 0 0 no 4 intron2-txEnd UTR 2349 5' 74103270 74139390 dbVar chr7:74008364-74140675 0.01 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 776783;777959;777979;777991 loss 101926943 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA full p23.1 FAM66B;DEFB109B;USP17L1;USP17L4;ZNF705G;DEFB4B;DEFB103B;SPAG11B;DEFB104B;DEFB106B;DEFB105B;DEFB107B;PRR23D1;FAM90A7;FAM90A22;FAM90A23;FAM90A14;FAM90A18;FAM90A16;FAM90A8;FAM90A17;FAM90A19;FAM90A9;FAM90A10;PRR23D2;DEFB107A;DEFB105A;DEFB106A;DEFB104A;SPAG11A;DEFB103A;DEFB4A LINC00965 ZNF705B 32 MCPH1 (morbid/RE=ABC_enhancer+GH_promoter_enhancer) dbVar:nssv15169207;dbVar:nssv15128680;dbVar:nssv15161508;dbVar:nssv15161747;dbVar:nssv17976867;dbVar:nssv17957391;dbVar:nssv15154583;dbVar:nssv15161801;nssv15777239;nssv17976962;dbVar:nssv15154584;dbVar:nssv16206921;dbVar:nssv15154580;dbVar:nssv15161417;nssv15161657;dbVar:nssv15147671;dbVar:nssv15161846;dbVar:nssv15150473;dbVar:nssv15127651;dbVar:nssv15149098;dbVar:nssv15169210;dbVar:nssv15154582;dbVar:nssv15146537;dbVar:nssv15161807;dbVar:nssv15161553;dbVar:nssv15161105;dbVar:nssv15161095;dbVar:nssv15161561;dbVar:nssv15161078;dbVar:nssv15147455;dbVar:nssv16736635;dbVar:nssv15161269;dbVar:nssv15161748;dbVar:nssv15161749;dbVar:nssv15143576;dbVar:nssv15161775;dbVar:nssv15146180;dbVar:nssv15161087;dbVar:nssv15161068;dbVar:nssv15161792;dbVar:nssv15606063;dbVar:nssv15151542;dbVar:nssv15161084;dbVar:nssv16206931;dbVar:nssv15154577;dbVar:nssv15161089;dbVar:nssv15151538;dbVar:nssv15152254;dbVar:nssv18842054;dbVar:nssv15161540;dbVar:nssv15161727;dbVar:nssv15161764 8:10214-146293414;8:13939-146304022;8:46311-11879315;8:46311-30472220;8:158049-10348413;8:158049-11936107;8:158049-13974319;8:158049-146295771;8:158049-15423270;8:158049-8102819;8:158049-9750676;8:158050-146295771;8:158992-13304906;8:158992-146280828;8:158992-17536147;8:163683-46938942;8:164985-11860845;8:164985-146293414;8:168484-13147575;8:169854-10022996;8:176453-12556063;8:176453-12570496;8:176453-146294098;8:176453-16137655;8:176453-34349408;8:176453-37879246;8:176453-7838959;8:176815-43396776;8:191531-146274835;8:191531-146280020;8:191531-17536206;8:191531-22404983;8:191531-23055911;8:191531-7752586;8:191606-146280167;8:191606-24514484;8:191606-30948590;8:194618-13947374;8:1825201-24533193;8:6961184-12157391;8:6999220-11895232;8:6999220-11898980;8:6999220-38553064;8:6999220-8881836;8:7053187-11805960;8:7080282-12045269;8:7169491-12404062;8:7268820-12039974;8:7691902-12039974 0.40;0.40;4.94;1.92;5.73;4.96;4.23;0.40;3.83;7.35;6.09;0.40;4.44;0.40;3.36;1.25;4.99;0.40;4.50;5.93;4.72;4.71;0.40;3.66;1.71;1.55;7.62;1.35;0.40;0.40;3.37;2.63;2.55;7.71;0.40;2.40;1.90;4.25;2.57;11.24;11.93;11.92;1.85;31.03;12.29;11.76;11.16;10.16;1.42 dbVar:nssv15168702;dbVar:nssv15169206;dbVar:nssv18842057;dbVar:nssv17956019;dbVar:nssv15154581;dbVar:nssv18326425;dbVar:nssv15149861;dbVar:nssv15775686;dbVar:nssv17976739;dbVar:nssv16208166;dbVar:nssv15774257;dbVar:nssv15149509;dbVar:nssv18330306;dbVar:nssv18329623;dbVar:nssv16216869;dbVar:nssv15169209;dbVar:nssv15223191;dbVar:nssv15147275;dbVar:nssv15148964;dbVar:nssv15147296;dbVar:nssv15146181;nssv15146816;dbVar:nssv15606064;dbVar:nssv15146660;dbVar:nssv18841910;dbVar:nssv15161264;nssv15161582;dbVar:nssv15145917;dbVar:nssv15161283;dbVar:nssv15161284;dbVar:nssv15161070;dbVar:nssv15141976;dbVar:nssv15161050 8:10214-10197718;8:10214-8948469;8:10502-11142629;8:10502-7214947;8:158049-10939681;8:158049-11281408;8:158049-13309069;8:158049-14214722;8:158049-30187456;8:158049-9025197;8:158049-9393052;8:158049-9749574;8:158050-10965627;8:158050-18936715;8:161517-11516619;8:164985-10007227;8:176815-7753583;8:191531-10049105;8:191531-10315994;8:191531-10724642;8:191531-7752586;8:194618-7787444;8:360370-7334625;8:399894-23712417;8:2292236-27361796;8:3791728-11384448;8:7053187-12241152;8:7092360-12372324;8:7169491-12404062;8:7268820-11805960;8:7268820-11819316 5.73;6.53;5.25;0.63;5.42;5.25;4.44;4.16;1.95;6.59;6.32;6.09;5.40;3.11;5.14;5.93;7.71;5.93;5.77;5.55;7.71;7.69;2.37;2.51;2.33;7.69;11.26;11.06;11.16;10.68;10.65 DDD:26674;TS40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 8:6858816-8072303 esv2761169;8:6985776-7230992 DDD:26670;8:7035907-7428513 DDD:26675;8:7154889-7213289 DDD:26682;chr8:7159226-7201223 dbVar;8:7170611-7177489 nsv515099;chr8:7190000-7195000 dbVar;8:7201176-7392220 DDD:26689;chr8:7212582-7227421 dbVar;8:7212583-7227421 1000g;8:7212583-7227421 TS40:ISCA-46631;8:7241528-7403182 nsv515100;8:7250369-7832042 dgv6936n100;chr8:7355000-7365050 dbVar;8:7401394-7472190 DDD:26720;chr8:7404000-7437650 dbVar;chr8:7525167-7633135 dbVar;chr8:7525167-8097772 dbVar;chr8:7573000-7626700 dbVar;8:7632945-7856630 DDD:26727... chr8:6828277-7474073 dbVar;8:6959834-8600711 esv2764098;8:7024892-8031414 DDD:26674;8:7053187-8130689 TS40:ISCA-37472;chr8:7159226-7187516 dbVar;chr8:7159226-7474073 dbVar;chr8:7187516-7201223 dbVar;8:7190891-7190961 DDD:26685;chr8:7206400-7253000 dbVar;8:7212583-7227421 1000g;8:7212583-7227421 1000g;8:7212583-7227421 dgv1365e214;chr8:7243000-7356000 dbVar;8:7308244-7308706 DDD:26704;chr8:7365000-7404400 dbVar;chr8:7403133-7474073 dbVar;chr8:7424800-7474000 dbVar;chr8:7525167-7866528 dbVar;chr8:7532000-7545000 dbVar;chr8:7608000-7649500 dbVar... 8:6959834-8600711 esv2764098;8:7024892-8031414 DDD:26674;8:7053187-8130689 HI40:ISCA-37472;8:7154889-7213289 DDD:26682;8:7158202-7189800 DDD:26683;chr8:7179582-7191032 dbVar;8:7179583-7191032 esv3616115;8:7190891-7190961 DDD:26685;chr8:7201000-7206400 dbVar;chr8:7204184-7204308 dbVar;8:7212583-7227421 1000g;chr8:7221359-7221602 dbVar;8:7228000-7235000 gnomAD-SV_v2.1_DEL_8_89335;chr8:7286205-7286328 dbVar;chr8:7326402-7326559 dbVar;8:7355000-7363000 gnomAD-SV_v2.1_DEL_8_89340;8:7355294-7364762 1000g;8:7401394-7472190 DDD:26720;8:7402900-7419700 gnomAD-SV_v2.1_DEL_8_89341;8:7405950-7443050 gnomAD-SV_v2.1_DEL_8_89342... 8:6858816-8072303 esv2761169;8:6985776-7230992 DDD:26670;8:7035907-7428513 DDD:26675;chr8:7085462-7537934 dbVar;8:7158046-7189992 esv2675221;chr8:7175745-7175870 dbVar;8:7179583-7191032 1000g;chr8:7180382-7180743 dbVar;8:7190892-7196288 DDD:26687;8:7201000-7206400 gnomAD-SV_v2.1_DEL_8_89332;chr8:7212582-7227421 dbVar;8:7212583-7227421 esv3616116;chr8:7228000-7235000 dbVar;chr8:7276552-7277128 dbVar;8:7308244-7308706 DDD:26704;chr8:7355000-7363000 dbVar;chr8:7355293-7364762 dbVar;8:7355294-7364762 esv3616120;chr8:7402900-7419700 dbVar;chr8:7405950-7443050 dbVar... 674618;1021421;1021422;646653;1520679;1915732;3052323;2599287;832406;665154;653853;679166;678976;663306;700319;654990;679312;646920;863772;653647;649616;671308;658988;675704;1023557;678564;857770;745967;654991;676140;783310;824013;870858;820152;834536;871873;875246;654992;701040;665155;745968;682446;745969;702113;890458;732002;921361;909011;880183;1018294;925302;... loss;gain 0.260 0.330 8:7150797-7184572;8:7150797-7195814;8:7150797-7200543;8:7150798-7238459 8:7600001-7825413 8:7012601-8066200 High Signal Region 8:7012601-8066200 High Signal Region 99.72 2.14121257165536 2.19863945242443 yes yes 8 4.2180e-01 5.1947e-01 1.35 1A (cf Gene_count, RE_gene, +0.00);2C-1 (DEFB4A, +0.90);3B (32 genes, +0.45);5F (+0.00) 5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM66B NR_027423 2 7156265 7212885 43395 0 0 no 7 txStart-intron6 UTR 9797 3' 7169490 7212885 DDD:26670;DDD:26674;DDD:26675;DDD:26682;TS40:ISCA-37472;dbVar;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289;chr8:7159226-7474073 0.2355 DDD:26670;DDD:26674;DDD:26675;DDD:26682;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934;8:7154889-7213289 0.2237 100128890 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB109B NM_001037380 2 7170243 7177618 7375 264 100 no 2 txStart-txEnd 5'UTR-3'UTR 7170243 7177618 DDD:26670;DDD:26674;DDD:26675;DDD:26682;TS40:ISCA-37472;dbVar;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289;chr8:7159226-7187516;chr8:7159226-7201223;chr8:7159226-7474073 0.2355 DDD:26670;DDD:26674;DDD:26675;DDD:26682;DDD:26683;HI40:ISCA-37472;dbVar;esv2675221;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934;8:7154889-7213289;8:7158046-7189992;8:7158202-7189800 0.2237 641517 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 USP17L1 NM_001256873 1 7189908 7191501 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 7189908 7191501 DDD:26670;DDD:26674;DDD:26675;DDD:26682;TS40:ISCA-37472;dbVar;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289;chr8:7159226-7201223;chr8:7159226-7474073;chr8:7187516-7201223 0.2355 DDD:26670;DDD:26674;DDD:26675;DDD:26682;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934;8:7154889-7213289 0.2237 401447 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 USP17L4 NM_001256874 1 7194636 7196229 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 7194636 7196229 DDD:26670;DDD:26674;DDD:26675;DDD:26682;TS40:ISCA-37472;dbVar;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289;chr8:7159226-7201223;chr8:7159226-7474073;chr8:7187516-7201223 0.2355 DDD:26670;DDD:26674;DDD:26675;DDD:26682;DDD:26687;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934;8:7154889-7213289;8:7190892-7196288 0.2237 645402 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 ZNF705G NM_001164457 3 7213038 7243080 30042 903 100 no 7 txStart-txEnd 5'UTR-3'UTR 7213038 7243080 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;chr8:7206400-7253000 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 1023557;745967;654991;676140;745968;732002 loss;gain 91.1 -1.59751875296103 -3.97736276921453 100131980 9 1.6471e-08 4.2486e-09 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB4B NM_001205266 2 7272376 7274385 2009 195 100 no 2 txStart-txEnd 5'UTR-3'UTR 7272376 7274385 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;chr8:7243000-7356000;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 99.72 100289462 9 6.7977e-02 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB103B NM_018661 4 7286409 7287870 1461 204 100 no 2 txStart-txEnd 5'UTR-3'UTR 7286409 7287870 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;chr8:7243000-7356000;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 85.97 55894 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 SPAG11B NM_058201 4 7308124 7321064 12940 402 100 no 3 txStart-txEnd 5'UTR-3'UTR 7308124 7321064 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;chr8:7243000-7356000;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 89.4 2.14121257165536 1.8677219993927 10407 9 2.7751e-02 4.7238e-02 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB104B NM_001040702 1 7327829 7332604 4775 219 100 no 2 txStart-txEnd 5'UTR-3'UTR 7327829 7332604 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;chr8:7243000-7356000;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 95.66 503618 9 3.3176e-01 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB106B NM_001040704 2 7340025 7343922 3897 198 100 no 2 txStart-txEnd 5'UTR-3'UTR 7340025 7343922 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;chr8:7243000-7356000;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 93.29 503841 9 8.1151e-02 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB105B NM_001040703 3 7345200 7347115 1915 237 100 no 3 txStart-txEnd 5'UTR-3'UTR 7345200 7347115 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;chr8:7243000-7356000;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 90.95 504180 9 2.9184e-01 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB107B NM_001040705 2 7353432 7366833 13401 213 100 no 2 txStart-txEnd 5'UTR-3'UTR 7353432 7366833 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 603719;849088;921364 gain 91.71 503614 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 PRR23D1 NM_001282479 1 7397148 7399972 2824 840 100 no 4 txStart-txEnd 5'UTR-3'UTR 7397148 7399972 DDD:26674;DDD:26675;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7241528-7403182;8:7250369-7832042;chr8:7365000-7404400 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 100131608 8 4.2180e-01 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A7 NM_001397387 1 7414221 7417234 3013 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7414221 7417234 DDD:26674;DDD:26675;DDD:26720;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7250369-7832042;8:7401394-7472190;chr8:7403133-7474073;chr8:7404000-7437650 0.2355 DDD:26674;DDD:26675;DDD:26720;HI40:ISCA-37472;dbVar;esv2761169;esv2764098;gnomAD-SV_v2.1_DEL_8_89341;gnomAD-SV_v2.1_DEL_8_89342 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934;8:7401394-7472190;chr8:7402900-7419700;8:7402900-7419700;chr8:7405950-7443050;8:7405950-7443050 0.5803 441317 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A22 NM_001397382 1 7429516 7432528 3012 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7429516 7432528 DDD:26674;DDD:26720;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;chr8:7159226-7474073;8:7250369-7832042;8:7401394-7472190;chr8:7403133-7474073;chr8:7404000-7437650;chr8:7424800-7474000 0.2355 DDD:26674;DDD:26720;HI40:ISCA-37472;dbVar;esv2761169;esv2764098;gnomAD-SV_v2.1_DEL_8_89342 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;chr8:7085462-7537934;8:7401394-7472190;chr8:7405950-7443050;8:7405950-7443050 0.4842 645558 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A23 NM_001397380 1 7437165 7440175 3010 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7437165 7440175 DDD:26674;DDD:26720;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;chr8:7159226-7474073;8:7250369-7832042;8:7401394-7472190;chr8:7403133-7474073;chr8:7424800-7474000 0.2355 DDD:26674;DDD:26720;HI40:ISCA-37472;dbVar;esv2761169;esv2764098;gnomAD-SV_v2.1_DEL_8_89342 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;chr8:7085462-7537934;8:7401394-7472190;chr8:7405950-7443050;8:7405950-7443050 0.4842 645572 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A14 NM_001164452 1 7572964 7575975 3011 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7572964 7575975 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 645651 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A18 NM_001164451 1 7580612 7583623 3011 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7580612 7583623 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7573000-7626700 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441326 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A16 NM_001397396 1 7588260 7591271 3011 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7588260 7591271 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7573000-7626700 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441323 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A8 NM_001164450 1 7595908 7598918 3010 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7595908 7598918 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7573000-7626700 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441324 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A17 NM_001397391 1 7603555 7606566 3011 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7603555 7606566 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7573000-7626700 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 728746 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A19 NM_001164449 1 7611203 7614214 3011 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7611203 7614214 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7573000-7626700;chr8:7608000-7649500 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 728753 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A9 NM_001164448 1 7618851 7621862 3011 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7618851 7621862 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7573000-7626700;chr8:7608000-7649500 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441327 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A10 NM_001164447 1 7626498 7629510 3012 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7626498 7629510 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7608000-7649500 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441328 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 PRR23D2 NM_001282478 1 7636112 7638935 2823 840 100 no 4 txStart-txEnd 5'UTR-3'UTR 7636112 7638935 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7608000-7649500;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 100133251 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB107A NM_001037668 1 7669241 7673238 3997 213 100 no 2 txStart-txEnd 5'UTR-3'UTR 7669241 7673238 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 682133 gain 92.48 245910 9 3.2633e-01 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB105A NM_152250 3 7678525 7681402 2877 237 100 no 3 txStart-txEnd 5'UTR-3'UTR 7678525 7681402 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 90.61 0.918523398770926 0.00809335391872301 245908 8 3.7719e-01 4.3625e-01 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB106A NM_152251 4 7682660 7686575 3915 198 100 no 2 txStart-txEnd 5'UTR-3'UTR 7682660 7686575 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 90.45 0.676417083229402 1.6332400949348 245909 9 8.5821e-03 4.0931e-01 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB104A NM_080389 3 7693957 7698764 4807 219 100 no 2 txStart-txEnd 5'UTR-3'UTR 7693957 7698764 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 96.98 1.33624136747443 2.19863945242443 140596 9 9.3748e-02 5.1947e-01 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 SPAG11A NM_001395484 1 7705529 7718465 12936 402 100 no 3 txStart-txEnd 5'UTR-3'UTR 7705529 7718465 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 97.15 0.140072348156658 0.903069021299127 653423 9 6.9645e-05 3.9012e-02 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB103A NM_001081551 4 7738913 7740185 1272 204 100 no 2 txStart-txEnd 5'UTR-3'UTR 7738913 7740185 DDD:26674;DDD:26727;DDD:26729;DDD:26742;DDD:26743;TS40:ISCA-37472;TS40:ISCA-46381;dbVar;dgv6936n100;esv2761169;esv2764098;gnomAD-SV_v2.1_DUP_8_23708 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839;8:7718891-7784263;8:7734213-7856702;8:7737000-7743100;chr8:7737000-7743100;8:7737000-7743100 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;HI40:ISCA-46380;dbVar;esv2761169;esv2764098;gnomAD-SV_v2.1_DEL_8_89353 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630;8:7736500-7764500;chr8:7736500-7764500;8:7736500-7764500 0.3262 93.4 414325 full=5 -8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB4A NM_004942 4 7752198 7754238 1385 58 29 yes 2 txStart-intron1 5'UTR-CDS 412 3' 7752198 7753583 DDD:26674;DDD:26727;DDD:26729;DDD:26742;DDD:26743;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839;8:7718891-7784263;8:7734213-7856702 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;HI40:ISCA-46380;HI40:ISCA-46382;dbVar;esv2761169;esv2764098;gnomAD-SV_v2.1_DEL_8_89353;gnomAD-SV_v2.1_DEL_8_89355 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630;8:7736500-7764500;chr8:7736500-7764500;8:7736500-7764500;8:7745000-7754100;chr8:7745000-7754100;8:7745000-7754100 0.5182 97.87 1.12959151611996 0.758429673080804 1673 yes yes 9 1.1637e-03 3.9981e-01 full=5 1_196756232_196799302_DEL_1 1 196756232 196799302 -43070 DEL Benign NA full q31.3 CFHR3;CFHR1 CFH CFHR4 2 ASPM (morbid/RE=EA_enhancer);CFH (morbid/RE=GH_promoter_enhancer) dbVar:nssv15121100 1:196757279-196796716 dbVar:nssv15156967;dbVar:nssv15156970;dbVar:nssv15149867;nssv15151118;dbVar:nssv15127572;dbVar:nssv18330594;dbVar:nssv15777262;dbVar:nssv15169967;dbVar:nssv15146388;dbVar:nssv15151024 1:47852-249228449;1:82155-249218992;1:849468-249224684;1:145764500-249233096;1:181453461-213107248;1:182388774-249111240;1:185644664-221698833;1:187113114-224487119;1:195483440-249213000 0.02;0.02;0.02;0.04;0.14;0.06;0.12;0.12;0.08 dbVar:nssv15129680;dbVar:nssv16207750;dbVar:nssv15146573;dbVar:nssv15151287;dbVar:nssv17970297;dbVar:nssv17970308;dbVar:nssv15146667;dbVar:nssv18329566;dbVar:nssv18330283;dbVar:nssv15154062;dbVar:nssv15134156;dbVar:nssv18792867;dbVar:nssv15146075;dbVar:nssv15119768 1:146053395-249233096;1:177551194-199599056;1:179002041-199694025;1:179011315-199022759;1:179073387-200192265;1:179413480-201764737;1:189003615-199584994;1:189633886-199854163;1:193011754-199882947;1:195089819-197443021;1:195483440-197865624;1:196676029-196842326;1:196712877-196797546;1:196722207-196808505 0.04;0.20;0.21;0.22;0.20;0.19;0.41;0.42;0.63;1.83;1.81;25.90;48.80;49.91 DDD:3693;dbVar chr1:196711121-196824857;chr1:196711121-196919131;chr1:196711478-197053461;1:196724161-196912840;chr1:196727600-196807000 0.1822 1000g;DDD:3692;DDD:3693;DDD:3695;dbVar;dgv11e55;dgv6e203;dgv87e199;esv2421560;esv3588469;nsv514031;nsv517662 1:196711068-196937536;1:196719268-196810043;1:196722346-196822692;1:196723048-196815791;1:196724161-196912840;1:196727851-196939719;chr1:196728877-196808865;1:196728878-196808865;1:196728878-196808865;1:196731149-196901753;1:196733402-196813850;1:196738898-196801697 0.4486 IMH 1:17124869-234920285;1:108097960-232960701 0.3095 chr1:196711121-196919131 dbVar;1:196724161-196912840 DDD:3693;chr1:196735895-196764940 dbVar;chr1:196773811-196773879 dbVar; chr1:196711121-196824857 dbVar;chr1:196711478-197053461 dbVar;chr1:196727600-196807000 dbVar;1:196748312-196757828 DDD:3701;1:196792551-196801251 DDD:3714 1:196719268-196810043 DDD:3692;1:196723048-196815791 esv2421560;1:196727851-196939719 dgv6e203;1:196728878-196808865 1000g;chr1:196729000-196789200 dbVar;1:196731149-196901753 dgv11e55;chr1:196735895-196764940 dbVar;1:196735896-196764940 esv3588471;1:196738898-196801697 nsv514031;chr1:196761000-196783900 dbVar;1:196772366-196774588 1000g;1:196772602-196794300 DDD:3705;1:196777327-196902217 DDD:3707;1:196782000-196788000 gnomAD-SV_v2.1_DEL_1_10685;1:196782356-196903873 1000g;1:196785120-196821192 DDD:3712;1:196790200-196805500 gnomAD-SV_v2.1_DEL_1_10686; 1:196711068-196937536 nsv517662;1:196722346-196822692 dgv87e199;1:196724161-196912840 DDD:3693;chr1:196728877-196808865 dbVar;1:196728878-196808865 esv3588469;1:196729000-196789200 gnomAD-SV_v2.1_DEL_1_10680;1:196733402-196813850 DDD:3695;1:196735896-196764940 1000g;1:196738624-196771280 DDD:3698;1:196748312-196757828 DDD:3701;chr1:196772365-196774588 dbVar;1:196772366-196774588 esv3588475;1:196773003-196909196 DDD:3706;chr1:196782000-196788000 dbVar;chr1:196782355-196903873 dbVar;1:196782356-196903873 esv3588478;chr1:196790200-196805500 dbVar;1:196798566-196802072 DDD:3720 1057190;1065487;2085508;1061944 gain 0.350 0.285 1:196797933-196799242 L1MDa 1:196756102-196796319 1:196796320-196825045 98.26 1.07662990621103 1.30887789301822 605336;134371 yes 8 2.6297e-08 9.0932e-04 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_loss_source, +1.00);3A (2 genes, +0.00);5F (+0.00) 5 1_196756232_196799302_DEL_1 1 196756232 196799302 -43070 DEL Benign NA split q31.3 CFHR3 NM_021023 6 196743969 196764537 8306 563 56 yes 6 intron3-txEnd CDS-3'UTR 1114 3' 196756231 196764537 DDD:3693;dbVar chr1:196711121-196824857;chr1:196711121-196919131;chr1:196711478-197053461;1:196724161-196912840;chr1:196727600-196807000;chr1:196735895-196764940 0.1822 1000g;DDD:3692;DDD:3693;DDD:3695;DDD:3698;dbVar;dgv11e55;dgv6e203;dgv87e199;esv2421560;esv3588469;esv3588471;gnomAD-SV_v2.1_DEL_1_10680;nsv514031;nsv517662 1:196711068-196937536;1:196719268-196810043;1:196722346-196822692;1:196723048-196815791;1:196724161-196912840;1:196727851-196939719;chr1:196728877-196808865;1:196728878-196808865;1:196728878-196808865;chr1:196729000-196789200;1:196729000-196789200;1:196731149-196901753;1:196733402-196813850;chr1:196735895-196764940;1:196735896-196764940;1:196735896-196764940;1:196738624-196771280;1:196738898-196801697 0.4486 IMH 1:17124869-234920285;1:108097960-232960701 0.3095 98.26 0.6684477327677 0.697024247535932 hemolytic uremic syndrome, atypical, susceptibility to, 1 Limited 22626820 10878 605336 (Hemolytic uremic syndrome, atypical, susceptibility to), 235400 (3) AD,AR;(Macular degeneration, age-related, reduced risk of), 603075 (3) AD AD;AD,AR yes 8 1.7200e-11 1.2190e-05 full=5 1_196756232_196799302_DEL_1 1 196756232 196799302 -43070 DEL Benign NA split q31.3 CFHR1 NM_002113 3 196788860 196801319 10442 607 61 yes 6 txStart-intron4 5'UTR-CDS 327 3' 196788860 196799302 DDD:3693;dbVar chr1:196711121-196824857;chr1:196711121-196919131;chr1:196711478-197053461;1:196724161-196912840;chr1:196727600-196807000 0.1822 1000g;DDD:3692;DDD:3693;DDD:3695;DDD:3706;DDD:3707;DDD:3712;dbVar;dgv11e55;dgv6e203;dgv87e199;esv2421560;esv3588469;esv3588478;nsv514031;nsv517662 1:196711068-196937536;1:196719268-196810043;1:196722346-196822692;1:196723048-196815791;1:196724161-196912840;1:196727851-196939719;chr1:196728877-196808865;1:196728878-196808865;1:196728878-196808865;1:196731149-196901753;1:196733402-196813850;1:196738898-196801697;1:196773003-196909196;1:196777327-196902217;chr1:196782355-196903873;1:196782356-196903873;1:196782356-196903873;1:196785120-196821192 0.4486 IMH 1:17124869-234920285;1:108097960-232960701 0.3095 1061944 gain 92.58 1.07662990621103 1.30887789301822 age related macular degeneration 1;dense deposit disease;hemolytic uremic syndrome, atypical, susceptibility to, 1 AD;AR Limited;Supportive 19745068;19861685;23728178[PMID];23830046 3078 134371 (Hemolytic uremic syndrome, atypical, susceptibility to), 235400 (3) AD,AR;(Macular degeneration, age-related, reduced risk of), 603075 (3) AD AD;AD,AR yes 8 2.6297e-08 9.0932e-04 full=5 @@ -299,8 +266,8 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 12_63935482_64130626_DEL_1 12 63935482 64130626 -195144 DEL DPY19L2 (both DEL and DUP LCR mediated, precise breakpoints) Pathogenic NA split q14.2 DPY19L2 NM_173812 5 63952692 64062273 109581 2277 100 no 22 txStart-txEnd 5'UTR-3'UTR 63952692 64062273 Spermatogenic failure 9, 613958 (3) AR dbVar:nssv16213932;morbid:DPY19L2 12:63952693-64062273;12:63989747-63989817 1 Spermatogenic_failure_9 1000g;DDD:38888;dbVar;esv3629757;gnomAD-SV_v2.1_DUP_12_34997 chr12:63936386-64131550;12:63936386-64131550;chr12:63939158-64117235;12:63939159-64117235;12:63939159-64117235;12:63940549-64135811;chr12:63950451-64144961 0.0257 dbVar chr12:63923277-64119251;chr12:63939158-64117235;chr12:63946269-64141505 0.01 IMH 12:11501488-96031049;12:40933234-113477160 0.1070 1267803;1760195;1054499;1054500 loss;gain 81.13 1.02618176351368 1.66555804568279 male infertility due to globozoospermia;spermatogenic failure 9 AR Strong;Supportive 17008355;21397063;21397063[PMID]_22571172[PMID];21397064;22627659;22653751;25755131;25780569 283417 613893 Spermatogenic failure 9, 613958 (3) AR AR yes 4 1.0936e-13 7.0294e-05 full=5 16_1565630_1571297_DUP_1 16 1565630 1571297 5667 DUP IFT140 tandem duplication Pathogenic NA full p13.3 IFT140 TELO2 TMEM204 1 dbVar:nssv17973053 16:1568198-1570829 dbVar:nssv16208781 16:1568218-1570809 Cranioectodermal_dysplasia|Saldino-Mainzer_syndrome|Joubert_syndrome_with_Jeune_asphyxiating_thoracic_dystrophy dbVar:nssv15158812;dbVar:nssv15148703;dbVar:nssv15147067;dbVar:nssv15148669;dbVar:nssv15147068;dbVar:nssv17649874;dbVar:nssv15152396;dbVar:nssv15150758;dbVar:nssv15149904;dbVar:nssv15154767;dbVar:nssv16254459;dbVar:nssv15149503;dbVar:nssv15150639;nssv15151292;dbVar:nssv15158813;dbVar:nssv15158224;dbVar:nssv15147425;dbVar:nssv15147959;dbVar:nssv15147069;dbVar:nssv15148094;dbVar:nssv15147790;dbVar:nssv8639650;dbVar:nssv15606077;dbVar:nssv18326373;dbVar:nssv15146792;dbVar:nssv15147071;dbVar:nssv15145754;dbVar:nssv15155466;dbVar:nssv17955877;dbVar:nssv18841986;CLN:513805 16:61452-90294632;16:69194-90274381;16:73142-11390552;16:78802-9169448;16:79942-2610461;16:84486-5251013;16:85881-11209288;16:85881-19806921;16:85881-22442007;16:85881-3216551;16:85881-5249457;16:85881-9883129;16:85882-90155062;16:88166-90163275;16:88166-90274695;16:93733-13420663;16:96767-11619372;16:96767-3264623;16:96767-4297186;16:97134-5122974;16:102840-28327676;16:109979-4316797;16:111044-6627459;16:716663-15836961;16:1271652-2283774;16:1328823-1969149;16:1505185-4415346;16:1561202-1573469;16:1565604-1571309;16:1565629-1571298 0.01;0.01;0.05;0.06;0.22;0.11;0.05;0.03;0.03;0.18;0.11;0.06;0.01;0.01;0.01;0.04;0.05;0.18;0.13;0.11;0.02;0.13;0.09;0.04;0.56;0.89;0.19;46.20;99.33;99.96 Retinitis pigmentosa 80, 617781 (3) AR;Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3) AR dbVar:nssv15173022;dbVar:nssv15145815;dbVar:nssv15147164;dbVar:nssv15155465;dbVar:nssv15776300;dbVar:nssv15146945;dbVar:nssv15148829;dbVar:nssv15148018;dbVar:nssv15145816;dbVar:nssv18790909;nssv18790910;dbVar:nssv15771714;dbVar:nssv16214818;dbVar:nssv18792796;dbVar:nssv16214651;morbid:IFT140 16:61452-1593645;16:73142-1762524;16:73142-1823350;16:85881-1875694;16:85881-2053328;16:88166-1715454;16:96723-1917328;16:96767-1594015;16:96767-2047583;16:256303-1657267;16:624056-2115656;16:624056-2148005;16:811897-2130379;16:1203719-2185710;16:1560428-1662073 0.37;0.34;0.32;0.32;0.29;0.35;0.31;0.38;0.29;0.40;0.38;0.37;0.43;0.58;5.58 13 Jeune_thoracic_dystrophy;Retinal_dystrophy;Retinitis_pigmentosa;Retinitis_pigmentosa_80;Saldino-Mainzer_syndrome chr16:1527000-1569000 dbVar 0.520 0.500 16:1565418-1565697;16:1565698-1565893 AluJr;L1MEf 16:1571134-1571365 AluJb 69.24 -1.52736818830718 -0.448946429663129 -0.844654865976432 -0.922111894578121 -1.23259677674915 614620 yes 4 9.9140e-24 9.1377e-18 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_gain_source, +1.00);2I-3 (IFT140, +0.00);3A (1 gene, +0.00);5F (+0.00) 5 16_1565630_1571297_DUP_1 16 1565630 1571297 5667 DUP IFT140 tandem duplication Pathogenic NA split p13.3 IFT140 NM_014714 4 1560427 1662073 5668 729 16 no 31 intron26-intron30 CDS 488 3' 1565629 1571297 dbVar:nssv17973053 16:1568198-1570829 dbVar:nssv16208781 16:1568218-1570809 13 Jeune_thoracic_dystrophy;Retinal_dystrophy;Retinitis_pigmentosa;Retinitis_pigmentosa_80;Saldino-Mainzer_syndrome 30 69.24 -1.52736818830718 -0.448946429663129 -0.844654865976432 -0.922111894578121 -1.23259677674915 IFT140-related recessive ciliopathy;Jeune syndrome;Leber congenital amaurosis;autosomal dominant polycystic kidney disease;retinitis pigmentosa;retinitis pigmentosa 80;short-rib thoracic dysplasia 9 with or without polydactyly AD;AR Definitive;Strong;Supportive 154653;22503633;22503633[PMID];22503633[PMID]_23418020[PMID]_24009529[PMID];23418020;24009529;26216056;26216056[PMID];26968735;30479745;31034313 9742 614620 Retinitis pigmentosa 80, 617781 (3) AR;Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3) AR AR yes 4 9.9140e-24 9.1377e-18 full=5 -17_14100119_15442066_DUP_1 17 14100119 15442066 1341947 DUP PMP22 (CMT1A) Pathogenic NA full p12 COX10;CDRT15;HS3ST3B1;MGC12916;CDRT7;LOC101928475;CDRT8;PMP22;MIR4731;TEKT3;CDRT4;TVP23C-CDRT4;CDRT3;TVP23C COX10-DT FBXW10B 14 ABCG8 (morbid/RE=mTL_miRNA);ACBD5 (morbid/RE=mTL_miRNA);ACVRL1 (HI=3/morbid/RE=mTL_miRNA);AMH (morbid/RE=mTL_miRNA);ANKS6 (morbid/RE=mTL_miRNA);ATL3 (morbid/RE=mTL_miRNA);ATP9A (morbid/RE=mTL_miRNA);CABP4 (morbid/RE=mTL_miRNA);CACNA1C (morbid/RE=mTL_miRNA);CACNA2D1 (morbid/RE=mTL_miRNA);CAVIN1 (morbid/RE=mTL_miRNA);CD4 (morbid/RE=mTL_miRNA);CDKN1A (morbid/RE=mTL_miRNA);CDT1 (morbid/RE=mTL_miRNA);CEP104 (morbid/RE=mTL_miRNA);CHD7 (HI=3/morbid/RE=mTL_miRNA);CHEK1 (morbid/RE=mTL_miRNA);CHST6 (morbid/RE=mTL_miRNA);CISD2 (morbid/RE=mTL_miRNA);CPT1A (morbid/RE=mTL_miRNA);CRCP (morbid/RE=mTL_miRNA);CREB1 (morbid/RE=mTL_miRNA);CRIPT (morbid/RE=mTL_miRNA);CYB5A (morbid/RE=mTL_miRNA);CYCS (morbid/RE=mTL_miRNA);DIDO1 (morbid/RE=mTL_miRNA);DNAJB13 (morbid/RE=mTL_miRNA);DNAJB4 (morbid/RE=mTL_miRNA);DNAL1 (morbid/RE=mTL_miRNA);DPP9 (morbid/RE=mTL_miRNA);EIF2B2 (morbid/RE=mTL_miRNA);ELAC2 (morbid/RE=ABC_enhancer);EMC1 (morbid/RE=mTL_miRNA);F2RL1 (morbid/RE=mTL_miRNA);FANCA (morbid/RE=mTL_miRNA);GAN (morbid/RE=mTL_miRNA);GATAD2B (HI=3/morbid/RE=mTL_miRNA);GNB5 (morbid/RE=mTL_miRNA);GOLGA2 (morbid/RE=mTL_miRNA);GPRC5B (morbid/RE=mTL_miRNA);HCFC1 (morbid/RE=mTL_miRNA);HCN4 (morbid/RE=mTL_miRNA);HFE (morbid/RE=mTL_miRNA);IKBKG (HI=3/morbid/RE=mTL_miRNA);IRAK4 (morbid/RE=mTL_miRNA);ISCA2 (morbid/RE=mTL_miRNA);KCND3 (morbid/RE=mTL_miRNA);KCNH2 (HI=3/morbid/RE=mTL_miRNA);KDM6B (morbid/RE=mTL_miRNA);KIAA1549 (morbid/RE=mTL_miRNA)... dbVar:nssv15123319;nssv18792872;dbVar:nssv15123460;dbVar:nssv15124534;dbVar:nssv15130870;dbVar:nssv15132574;nssv15139980;nssv16091758;dbVar:nssv15143888;dbVar:nssv15144711;dbVar:nssv15605910;dbVar:nssv15770494;dbVar:nssv15770609;dbVar:nssv15770794;dbVar:nssv16216948;dbVar:nssv17171394;dbVar:nssv17171395;dbVar:nssv17171396;dbVar:nssv17517518;dbVar:nssv17968761;dbVar:nssv17971796;dbVar:nssv18788963 17:14104013-15422557;17:14111773-15442066;17:14139890-15406546;17:14413313-15169915;17:15036413-15036413;17:15132095-15169674;17:15133085-15164054;17:15133095-15164078;17:15133097-15165152;17:15133098-15164054;17:15133961-15169915;17:15134215-15162530;17:15134215-15164064;17:15134229-15164050;17:15134234-15164044;17:15134235-15164044;17:15142769-15164064;17:15142779-15164054;17:15162412-15406546 ?Neuropathy, inflammatory demyelinating, 139393 (3) ?AD;Charcot-Marie-Tooth disease, type 1A, 118220 (3) AD;Charcot-Marie-Tooth disease, type 1E, 118300 (3) AD;Dejerine-Sottas disease, 145900 (3) AR,AD;Neuropathy, recurrent, with pressure palsies, 162500 (3) AD;Roussy-Levy syndrome, 180800 (3) AD;Spermatogenic failure 81, 620277 (3) AR HI3:PMP22;dbVar:nssv15119700;nssv15120161;dbVar:nssv15123358;dbVar:nssv15124100;dbVar:nssv15124536;dbVar:nssv15130148;nssv15131578;dbVar:nssv15131641;dbVar:nssv15132056;dbVar:nssv15133540;dbVar:nssv15152434;dbVar:nssv15605873;dbVar:nssv15770639;dbVar:nssv16212046;dbVar:nssv16213644;dbVar:nssv17171685;dbVar:nssv17171686;dbVar:nssv17171687;dbVar:nssv17517519;dbVar:nssv17968760;dbVar:nssv17971249;dbVar:nssv17971279;dbVar:nssv17972656;dbVar:nssv17974454;dbVar:nssv17974892;dbVar:nssv18788962;morbid:PMP22;morbid:TEKT3 17:14110044-14111913;17:14111773-15442066;17:14128551-15422557;17:14139890-15142928;17:14215740-15422582;17:14763747-15242181;17:15133085-15134407;17:15133085-15142938;17:15133085-15164054;17:15133095-15164078;17:15133095-15168690;17:15133098-15164054;17:15133961-15169915;17:15134215-15164064;17:15134234-15164044;17:15134235-15164044;17:15138536-15168643;17:15142769-15142948;17:15142779-15142938;17:15142779-15164054;17:15142930-15164044;17:15152792-15162532;17:15162392-15164044;17:15162402-15162520;17:15162402-15162523;17:15162402-15164054;17:15207129-15244914 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) dbVar:nssv15148946;dbVar:nssv15150353;dbVar:nssv15149908;nssv15152170;dbVar:nssv15159024;dbVar:nssv15160732;dbVar:nssv15159027;dbVar:nssv15121114;dbVar:nssv17976715;dbVar:nssv15133502;dbVar:nssv15605908;dbVar:nssv17955950;dbVar:nssv18330199;dbVar:nssv15127850;dbVar:nssv15155527;dbVar:nssv18330563;dbVar:nssv16215327;dbVar:nssv15152221;dbVar:nssv15155528;dbVar:nssv15152212;dbVar:nssv15151828;dbVar:nssv15138362;dbVar:nssv18330766;dbVar:nssv15152433;dbVar:nssv15141972;dbVar:nssv15137438;dbVar:nssv15138198;dbVar:nssv15151261;dbVar:nssv15152245;dbVar:nssv15139258;nssv15130449;dbVar:nssv18329572;dbVar:nssv18330190;dbVar:nssv18330250;dbVar:nssv18329615;dbVar:nssv15133504;dbVar:nssv15138548;dbVar:nssv15133503;dbVar:nssv17976450;dbVar:nssv18842067;dbVar:nssv18792739;dbVar:nssv18792799;dbVar:nssv17955866;TS3:ISCA-37436;dbVar:nssv17649964;dbVar:nssv15123339;dbVar:nssv15141042;dbVar:nssv15122626;dbVar:nssv16867389;dbVar:nssv15140957;dbVar:nssv15141757;dbVar:nssv15123522;dbVar:nssv15159072;dbVar:nssv15605912;dbVar:nssv15137903;dbVar:nssv15123444;dbVar:nssv16207305;dbVar:nssv15136705;dbVar:nssv15134920;dbVar:nssv15132415;dbVar:nssv15133505 17:526-14667519;17:526-15027737;17:527-81041938;17:7215-81058310;17:8548-81060040;17:12345-81057996;17:10795577-17867596;17:11819315-17795978;17:14029614-15562901;17:14063252-15449627;17:14073285-15442296;17:14073564-15479923;17:14073604-15482773;17:14076431-15491532;17:14078284-15479940;17:14079631-15370444;17:14083055-15463054;17:14083055-15479940;17:14083055-15491532;17:14083055-15491533;17:14083055-15567669;17:14083056-15483608;17:14085653-15512120;17:14087934-15437330;17:14087934-15484358;17:14087934-15484858;17:14087934-15490100;17:14087934-15491532;17:14087934-15500645;17:14087935-15479940;17:14087935-15483608;17:14087935-15484358;17:14087935-15484630;17:14090301-15467184;17:14090301-15473590;17:14090301-15482240;17:14093319-15476314;17:14095257-15492591;17:14095307-15466762;17:14095307-15472344;17:14096090-15492591;17:14097916-15422952;17:14098197-15442500;17:14098278-15471179;17:14098661-15501133;17:14099743-15471179;17:14100119-15455297;17:14100119-15458649;17:14100119-15492400;17:14100119-15492444;17:14101030-15504740;17:14105875-15611546;17:14111773-15482872;17:14139858-15707850;17:14195643-15545880;17:15093601-15856310;17:15113718-18184130;17:15138003-20524013;17:15162482-20828612 3.87;6.17;1.66;1.66;1.66;1.66;18.98;22.45;87.52;96.80;98.02;95.42;95.23;94.83;95.74;98.41;97.24;96.07;95.28;95.28;90.39;95.82;94.07;99.10;96.10;96.06;95.71;95.61;94.99;96.40;96.15;96.10;96.08;97.46;97.01;96.41;97.03;96.04;97.85;97.45;96.09;99.83;99.82;97.75;95.68;97.85;99.02;98.78;96.38;96.38;95.54;88.74;97.02;83.05;92.31;45.69;10.69;5.65;4.93 17p12 recurrent (HNPP/CMT1A) region (includes PMP22);Mitochondrial complex IV deficiency, nuclear type 3, 619046 (3) AR morbid:COX10;dbVar:nssv15129689;dbVar:nssv17976967;dbVar:nssv18330114;dbVar:nssv15145216;dbVar:nssv18330761;dbVar:nssv15138335;dbVar:nssv18330252;dbVar:nssv15145035;dbVar:nssv15141682;dbVar:nssv15141099;dbVar:nssv15138794;dbVar:nssv18330872;dbVar:nssv15137498;nssv15155529;dbVar:nssv15137504;dbVar:nssv18330269;dbVar:nssv18842062;dbVar:nssv15141647;HI3:ISCA-37436;dbVar:nssv18330706;dbVar:nssv15150275;dbVar:nssv15129116;dbVar:nssv15123772;dbVar:nssv15141918;dbVar:nssv15159071;nssv15605909;dbVar:nssv15123331;dbVar:nssv15605911;dbVar:nssv18786371;dbVar:nssv15605913;dbVar:nssv16255829;dbVar:nssv15136096;dbVar:nssv15136245;dbVar:nssv15126994;dbVar:nssv15134560;dbVar:nssv15137984 17:13972821-14111994;17:14073604-15482773;17:14076990-15473312;17:14077820-15491532;17:14082226-15421861;17:14082946-15484858;17:14083055-15475087;17:14083056-15484859;17:14086859-15476561;17:14087788-15473312;17:14087788-15483608;17:14087788-15490100;17:14087789-15484858;17:14087934-15484858;17:14087934-15491532;17:14087935-15491532;17:14095257-15477547;17:14095640-15274712;17:14097916-15422952;17:14098248-15475654;17:14098661-15500645;17:14098787-15495266;17:14099743-15471179;17:14100119-15455238;17:14101030-15449627;17:14101030-15482817;17:14104013-15551814;17:14110128-15472344;17:14110452-15449097;17:14111755-15442178;17:14111773-15482872;17:14111773-15491748;17:14112032-15482773;17:14574436-15856310;17:14970117-17375771 8.53;95.23;96.11;94.92;98.66;95.72;96.40;95.73;96.56;96.85;96.14;95.70;96.05;96.06;95.61;95.61;97.08;99.62;99.83;97.43;95.72;96.10;97.85;99.03;99.44;97.05;92.42;97.78;99.47;99.99;97.02;96.40;97.03;67.68;19.62 52 Charcot-Marie-Tooth_disease;Charcot-Marie-Tooth_disease,_type_I;Charcot-Marie-Tooth_disease,_type_IA;Charcot-Marie-Tooth_disease_type_1E;Charcot-Marie-Tooth_disease_type_2E;Cytochrome-c_oxidase_deficiency_disease;Dejerine-Sottas_disease;Dejerine-Sottas_syndrome,_autosomal_dominant;Hereditary_liability_to_pressure_palsies;Inborn_genetic_diseases;Mitochondrial_complex_4_deficiency,_nuclear_type_3;Roussy-Lévy_syndrome dbVar chr17:14096997-15486650 0.01 dbVar chr17:14093499-15486000 0.01 chr17:14126839-14220873 dbVar;17:14191081-14191901 DDD:48801;chr17:14194000-14199000 dbVar;chr17:14224374-14483419 dbVar;17:14224375-14483419 esv3640026;chr17:14256910-14257055 dbVar;chr17:14298872-14298951 dbVar;chr17:14334186-14339815 dbVar;chr17:14447875-14456539 dbVar;chr17:14668589-15084842 dbVar;17:14668590-15084842 esv3640046;chr17:14685229-14700196 dbVar;chr17:15028960-15030846 dbVar;chr17:15133798-15197525 dbVar;chr17:15287341-15482010 dbVar;chr17:15332787-15332860 dbVar; chr17:14096997-15486650 dbVar;chr17:14159542-14160385 dbVar;17:14191081-14198547 DDD:48802;chr17:14216314-14217439 dbVar;17:14224375-14483419 1000g;chr17:14241867-14248195 dbVar;chr17:14284612-14628667 dbVar;chr17:14300914-14367997 dbVar;chr17:14386097-14390355 dbVar;chr17:14489639-14632921 dbVar;17:14668590-15084842 1000g;chr17:14670267-14671370 dbVar;chr17:14767901-14773352 dbVar;chr17:15118923-15125291 dbVar;chr17:15151620-15151916 dbVar;chr17:15323152-15369177 dbVar;chr17:15439000-15444000 dbVar chr17:14096682-14108514 dbVar;chr17:14126839-14220873 dbVar;chr17:14155625-14155942 dbVar;chr17:14189910-14191555 dbVar;17:14189911-14191555 DDD:48799;17:14189911-14191555 esv2665541;17:14189911-14191557 1000g;17:14189912-14191555 IMH;17:14191081-14191901 DDD:48801;chr17:14220258-14221199 dbVar;17:14240918-14242023 DDD:48803;17:14240923-14242032 1000g;17:14240941-14242023 IMH;chr17:14241867-14248195 dbVar;chr17:14269249-14271950 dbVar;chr17:14277792-14278679 dbVar;chr17:14300414-14308117 dbVar;chr17:14314642-14320048 dbVar;chr17:14315900-14328444 dbVar;17:14332272-14332576 gnomAD-SV_v2.1_DEL_17_158748... chr17:14093499-15486000 dbVar;chr17:14105499-14108091 dbVar;chr17:14132469-14133456 dbVar;chr17:14186324-14196555 dbVar;chr17:14189910-14191557 dbVar;chr17:14189911-14191555 dbVar;17:14189911-14191555 gnomAD-SV_v2.1_DEL_17_158736;17:14189911-14191557 esv3640023;17:14190834-14191460 nsv574421;chr17:14210420-14210623 dbVar;chr17:14224374-14483419 dbVar;chr17:14240922-14242032 dbVar;17:14240923-14242032 esv3640027;chr17:14240941-14242023 dbVar;chr17:14256280-14258428 dbVar;chr17:14272755-14288592 dbVar;chr17:14284612-14628667 dbVar;chr17:14300914-14367997 dbVar;chr17:14314678-14320063 dbVar;chr17:14332272-14332576 dbVar... 557088;527329;960663;960664;271780;2830900;301045;262086;573463;591221;586955;271781;581715;527330;468582;482431;573464;531792;306277;570216;937731;271782;162997;826587;816488;787511;784668;811329;831423;864749;823089;2560430;815034;813495;809567;835854;40950;162998;288724;470190;429012;345937;271783;304081;826588;59114;782435;984637;470191;429013;1070158;... loss;gain 0.505 0.420 17:15422954-15470900 3 96.58 -2.62354415217069 -0.276965016632095 -1.64032033771268 3.6772325764896 4.17517843763452 602125;601097;612683 yes yes 1 9.0958e-01 8.3315e-01 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_gain_source, +1.00);2H-2 (PMP22/TEKT3, +0.00);2J (COX10, +0.00);2L (TVP23C/TVP23C-CDRT4, +0.00);3A (14 genes, +0.00);5F (+0.00) 5 -17_14100119_15442066_DUP_1 17 14100119 15442066 1341947 DUP PMP22 (CMT1A) Pathogenic NA split p12 COX10 NM_001303 4 13972820 14111994 11876 404 30 yes 7 intron6-txEnd CDS-3'UTR 4580 5' 14100118 14111994 dbVar:nssv15124536 17:14110044-14111913 1 Cytochrome-c_oxidase_deficiency_disease;Mitochondrial_complex_4_deficiency,_nuclear_type_3 dbVar chr17:14096997-15486650 0.01 dbVar chr17:14093499-15486000 0.01 30 60.22 -2.62354415217069 -2.20885612270982 -2.47162789907313 0.16322796385632 0.511864222455301 Leigh syndrome;cytochrome-c oxidase deficiency disease;mitochondrial complex 4 deficiency, nuclear type 3 AR Definitive;Moderate;Strong;Supportive 10767350;10767350[PMID]_12928484[PMID]_15455402[PMID];12928484;15455402;16103131;22622581;24100867 1352 602125 Mitochondrial complex IV deficiency, nuclear type 3, 619046 (3) AR AR yes 3 8.4050e-02 6.4657e-01 full=5 +17_14100119_15442066_DUP_1 17 14100119 15442066 1341947 DUP PMP22 (CMT1A) Pathogenic NA full p12 COX10;CDRT15;HS3ST3B1;MGC12916;CDRT7;LOC101928475;CDRT8;PMP22;MIR4731;TEKT3;CDRT4;TVP23C-CDRT4;CDRT3;TVP23C COX10-DT FBXW10B 14 ABCG8 (morbid/RE=mTL_miRNA);ACBD5 (morbid/RE=mTL_miRNA);ACVRL1 (HI=3/morbid/RE=mTL_miRNA);AMH (morbid/RE=mTL_miRNA);ANKS6 (morbid/RE=mTL_miRNA);ATL3 (morbid/RE=mTL_miRNA);ATP9A (morbid/RE=mTL_miRNA);CABP4 (morbid/RE=mTL_miRNA);CACNA1C (morbid/RE=mTL_miRNA);CAVIN1 (morbid/RE=mTL_miRNA);CD4 (morbid/RE=mTL_miRNA);CDT1 (morbid/RE=mTL_miRNA);CEP104 (morbid/RE=mTL_miRNA);CHD7 (HI=3/morbid/RE=mTL_miRNA);CHEK1 (morbid/RE=mTL_miRNA);CHST6 (morbid/RE=mTL_miRNA);CISD2 (morbid/RE=mTL_miRNA);CPT1A (morbid/RE=mTL_miRNA);CREB1 (morbid/RE=mTL_miRNA);CRIPT (morbid/RE=mTL_miRNA);CYB5A (morbid/RE=mTL_miRNA);CYCS (morbid/RE=mTL_miRNA);DNAJB13 (morbid/RE=mTL_miRNA);DNAJB4 (morbid/RE=mTL_miRNA);DNAL1 (morbid/RE=mTL_miRNA);DPP9 (morbid/RE=mTL_miRNA);EIF2B2 (morbid/RE=mTL_miRNA);ELAC2 (morbid/RE=ABC_enhancer);EMC1 (morbid/RE=mTL_miRNA);FANCA (morbid/RE=mTL_miRNA);GAN (morbid/RE=mTL_miRNA);GATAD2B (HI=3/morbid/RE=mTL_miRNA);GNB5 (morbid/RE=mTL_miRNA);GOLGA2 (morbid/RE=mTL_miRNA);GPRC5B (morbid/RE=mTL_miRNA);HCFC1 (morbid/RE=mTL_miRNA);HCN4 (morbid/RE=mTL_miRNA);HFE (morbid/RE=mTL_miRNA);IKBKG (HI=3/morbid/RE=mTL_miRNA);IRAK4 (morbid/RE=mTL_miRNA);ISCA2 (morbid/RE=mTL_miRNA);KCND3 (morbid/RE=mTL_miRNA);KCNH2 (HI=3/morbid/RE=mTL_miRNA);KDM6B (morbid/RE=mTL_miRNA);KIAA1549 (morbid/RE=mTL_miRNA);LDHD (morbid/RE=mTL_miRNA);LIAS (morbid/RE=mTL_miRNA);LNPK (morbid/RE=mTL_miRNA);LRTOMT (morbid/RE=mTL_miRNA);LYN (morbid/RE=mTL_miRNA)... dbVar:nssv15123319;nssv18792872;dbVar:nssv15123460;dbVar:nssv15124534;dbVar:nssv15130870;dbVar:nssv15132574;nssv15139980;nssv16091758;dbVar:nssv15143888;dbVar:nssv15144711;dbVar:nssv15605910;dbVar:nssv15770494;dbVar:nssv15770609;dbVar:nssv15770794;dbVar:nssv16216948;dbVar:nssv17171394;dbVar:nssv17171395;dbVar:nssv17171396;dbVar:nssv17517518;dbVar:nssv17968761;dbVar:nssv17971796;dbVar:nssv18788963 17:14104013-15422557;17:14111773-15442066;17:14139890-15406546;17:14413313-15169915;17:15036413-15036413;17:15132095-15169674;17:15133085-15164054;17:15133095-15164078;17:15133097-15165152;17:15133098-15164054;17:15133961-15169915;17:15134215-15162530;17:15134215-15164064;17:15134229-15164050;17:15134234-15164044;17:15134235-15164044;17:15142769-15164064;17:15142779-15164054;17:15162412-15406546 ?Neuropathy, inflammatory demyelinating, 139393 (3) ?AD;Charcot-Marie-Tooth disease, type 1A, 118220 (3) AD;Charcot-Marie-Tooth disease, type 1E, 118300 (3) AD;Dejerine-Sottas disease, 145900 (3) AR,AD;Neuropathy, recurrent, with pressure palsies, 162500 (3) AD;Roussy-Levy syndrome, 180800 (3) AD;Spermatogenic failure 81, 620277 (3) AR HI3:PMP22;dbVar:nssv15119700;nssv15120161;dbVar:nssv15123358;dbVar:nssv15124100;dbVar:nssv15124536;dbVar:nssv15130148;nssv15131578;dbVar:nssv15131641;dbVar:nssv15132056;dbVar:nssv15133540;dbVar:nssv15152434;dbVar:nssv15605873;dbVar:nssv15770639;dbVar:nssv16212046;dbVar:nssv16213644;dbVar:nssv17171685;dbVar:nssv17171686;dbVar:nssv17171687;dbVar:nssv17517519;dbVar:nssv17968760;dbVar:nssv17971249;dbVar:nssv17971279;dbVar:nssv17972656;dbVar:nssv17974454;dbVar:nssv17974892;dbVar:nssv18788962;morbid:PMP22;morbid:TEKT3 17:14110044-14111913;17:14111773-15442066;17:14128551-15422557;17:14139890-15142928;17:14215740-15422582;17:14763747-15242181;17:15133085-15134407;17:15133085-15142938;17:15133085-15164054;17:15133095-15164078;17:15133095-15168690;17:15133098-15164054;17:15133961-15169915;17:15134215-15164064;17:15134234-15164044;17:15134235-15164044;17:15138536-15168643;17:15142769-15142948;17:15142779-15142938;17:15142779-15164054;17:15142930-15164044;17:15152792-15162532;17:15162392-15164044;17:15162402-15162520;17:15162402-15162523;17:15162402-15164054;17:15207129-15244914 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) dbVar:nssv15148946;dbVar:nssv15150353;dbVar:nssv15149908;nssv15152170;dbVar:nssv15159024;dbVar:nssv15160732;dbVar:nssv15159027;dbVar:nssv15121114;dbVar:nssv17976715;dbVar:nssv15133502;dbVar:nssv15605908;dbVar:nssv17955950;dbVar:nssv18330199;dbVar:nssv15127850;dbVar:nssv15155527;dbVar:nssv18330563;dbVar:nssv16215327;dbVar:nssv15152221;dbVar:nssv15155528;dbVar:nssv15152212;dbVar:nssv15151828;dbVar:nssv15138362;dbVar:nssv18330766;dbVar:nssv15152433;dbVar:nssv15141972;dbVar:nssv15137438;dbVar:nssv15138198;dbVar:nssv15151261;dbVar:nssv15152245;dbVar:nssv15139258;nssv15130449;dbVar:nssv18329572;dbVar:nssv18330190;dbVar:nssv18330250;dbVar:nssv18329615;dbVar:nssv15133504;dbVar:nssv15138548;dbVar:nssv15133503;dbVar:nssv17976450;dbVar:nssv18842067;dbVar:nssv18792739;dbVar:nssv18792799;dbVar:nssv17955866;TS3:ISCA-37436;dbVar:nssv17649964;dbVar:nssv15123339;dbVar:nssv15141042;dbVar:nssv15122626;dbVar:nssv16867389;dbVar:nssv15140957;dbVar:nssv15141757;dbVar:nssv15123522;dbVar:nssv15159072;dbVar:nssv15605912;dbVar:nssv15137903;dbVar:nssv15123444;dbVar:nssv16207305;dbVar:nssv15136705;dbVar:nssv15134920;dbVar:nssv15132415;dbVar:nssv15133505 17:526-14667519;17:526-15027737;17:527-81041938;17:7215-81058310;17:8548-81060040;17:12345-81057996;17:10795577-17867596;17:11819315-17795978;17:14029614-15562901;17:14063252-15449627;17:14073285-15442296;17:14073564-15479923;17:14073604-15482773;17:14076431-15491532;17:14078284-15479940;17:14079631-15370444;17:14083055-15463054;17:14083055-15479940;17:14083055-15491532;17:14083055-15491533;17:14083055-15567669;17:14083056-15483608;17:14085653-15512120;17:14087934-15437330;17:14087934-15484358;17:14087934-15484858;17:14087934-15490100;17:14087934-15491532;17:14087934-15500645;17:14087935-15479940;17:14087935-15483608;17:14087935-15484358;17:14087935-15484630;17:14090301-15467184;17:14090301-15473590;17:14090301-15482240;17:14093319-15476314;17:14095257-15492591;17:14095307-15466762;17:14095307-15472344;17:14096090-15492591;17:14097916-15422952;17:14098197-15442500;17:14098278-15471179;17:14098661-15501133;17:14099743-15471179;17:14100119-15455297;17:14100119-15458649;17:14100119-15492400;17:14100119-15492444;17:14101030-15504740;17:14105875-15611546;17:14111773-15482872;17:14139858-15707850;17:14195643-15545880;17:15093601-15856310;17:15113718-18184130;17:15138003-20524013;17:15162482-20828612 3.87;6.17;1.66;1.66;1.66;1.66;18.98;22.45;87.52;96.80;98.02;95.42;95.23;94.83;95.74;98.41;97.24;96.07;95.28;95.28;90.39;95.82;94.07;99.10;96.10;96.06;95.71;95.61;94.99;96.40;96.15;96.10;96.08;97.46;97.01;96.41;97.03;96.04;97.85;97.45;96.09;99.83;99.82;97.75;95.68;97.85;99.02;98.78;96.38;96.38;95.54;88.74;97.02;83.05;92.31;45.69;10.69;5.65;4.93 17p12 recurrent (HNPP/CMT1A) region (includes PMP22);Mitochondrial complex IV deficiency, nuclear type 3, 619046 (3) AR morbid:COX10;dbVar:nssv15129689;dbVar:nssv17976967;dbVar:nssv18330114;dbVar:nssv15145216;dbVar:nssv18330761;dbVar:nssv15138335;dbVar:nssv18330252;dbVar:nssv15145035;dbVar:nssv15141682;dbVar:nssv15141099;dbVar:nssv15138794;dbVar:nssv18330872;dbVar:nssv15137498;nssv15155529;dbVar:nssv15137504;dbVar:nssv18330269;dbVar:nssv18842062;dbVar:nssv15141647;HI3:ISCA-37436;dbVar:nssv18330706;dbVar:nssv15150275;dbVar:nssv15129116;dbVar:nssv15123772;dbVar:nssv15141918;dbVar:nssv15159071;nssv15605909;dbVar:nssv15123331;dbVar:nssv15605911;dbVar:nssv18786371;dbVar:nssv15605913;dbVar:nssv16255829;dbVar:nssv15136096;dbVar:nssv15136245;dbVar:nssv15126994;dbVar:nssv15134560;dbVar:nssv15137984 17:13972821-14111994;17:14073604-15482773;17:14076990-15473312;17:14077820-15491532;17:14082226-15421861;17:14082946-15484858;17:14083055-15475087;17:14083056-15484859;17:14086859-15476561;17:14087788-15473312;17:14087788-15483608;17:14087788-15490100;17:14087789-15484858;17:14087934-15484858;17:14087934-15491532;17:14087935-15491532;17:14095257-15477547;17:14095640-15274712;17:14097916-15422952;17:14098248-15475654;17:14098661-15500645;17:14098787-15495266;17:14099743-15471179;17:14100119-15455238;17:14101030-15449627;17:14101030-15482817;17:14104013-15551814;17:14110128-15472344;17:14110452-15449097;17:14111755-15442178;17:14111773-15482872;17:14111773-15491748;17:14112032-15482773;17:14574436-15856310;17:14970117-17375771 8.53;95.23;96.11;94.92;98.66;95.72;96.40;95.73;96.56;96.85;96.14;95.70;96.05;96.06;95.61;95.61;97.08;99.62;99.83;97.43;95.72;96.10;97.85;99.03;99.44;97.05;92.42;97.78;99.47;99.99;97.02;96.40;97.03;67.68;19.62 52 Charcot-Marie-Tooth_disease;Charcot-Marie-Tooth_disease,_type_I;Charcot-Marie-Tooth_disease,_type_IA;Charcot-Marie-Tooth_disease_type_1E;Charcot-Marie-Tooth_disease_type_2E;Cytochrome-c_oxidase_deficiency_disease;Dejerine-Sottas_disease;Dejerine-Sottas_syndrome,_autosomal_dominant;Hereditary_liability_to_pressure_palsies;Inborn_genetic_diseases;Mitochondrial_complex_4_deficiency,_nuclear_type_3;Roussy-Lévy_syndrome dbVar chr17:14096997-15486650 0.01 dbVar chr17:14093499-15486000 0.01 chr17:14126839-14220873 dbVar;17:14191081-14191901 DDD:48801;chr17:14194000-14199000 dbVar;chr17:14224374-14483419 dbVar;17:14224375-14483419 esv3640026;chr17:14256910-14257055 dbVar;chr17:14298872-14298951 dbVar;chr17:14334186-14339815 dbVar;chr17:14447875-14456539 dbVar;chr17:14668589-15084842 dbVar;17:14668590-15084842 esv3640046;chr17:14685229-14700196 dbVar;chr17:15028960-15030846 dbVar;chr17:15133798-15197525 dbVar;chr17:15287341-15482010 dbVar;chr17:15332787-15332860 dbVar; chr17:14096997-15486650 dbVar;chr17:14159542-14160385 dbVar;17:14191081-14198547 DDD:48802;chr17:14216314-14217439 dbVar;17:14224375-14483419 1000g;chr17:14241867-14248195 dbVar;chr17:14284612-14628667 dbVar;chr17:14300914-14367997 dbVar;chr17:14386097-14390355 dbVar;chr17:14489639-14632921 dbVar;17:14668590-15084842 1000g;chr17:14670267-14671370 dbVar;chr17:14767901-14773352 dbVar;chr17:15118923-15125291 dbVar;chr17:15151620-15151916 dbVar;chr17:15323152-15369177 dbVar;chr17:15439000-15444000 dbVar chr17:14096682-14108514 dbVar;chr17:14126839-14220873 dbVar;chr17:14155625-14155942 dbVar;chr17:14189910-14191555 dbVar;17:14189911-14191555 DDD:48799;17:14189911-14191555 esv2665541;17:14189911-14191557 1000g;17:14189912-14191555 IMH;17:14191081-14191901 DDD:48801;chr17:14220258-14221199 dbVar;17:14240918-14242023 DDD:48803;17:14240923-14242032 1000g;17:14240941-14242023 IMH;chr17:14241867-14248195 dbVar;chr17:14269249-14271950 dbVar;chr17:14277792-14278679 dbVar;chr17:14300414-14308117 dbVar;chr17:14314642-14320048 dbVar;chr17:14315900-14328444 dbVar;17:14332272-14332576 gnomAD-SV_v2.1_DEL_17_158748... chr17:14093499-15486000 dbVar;chr17:14105499-14108091 dbVar;chr17:14132469-14133456 dbVar;chr17:14186324-14196555 dbVar;chr17:14189910-14191557 dbVar;chr17:14189911-14191555 dbVar;17:14189911-14191555 gnomAD-SV_v2.1_DEL_17_158736;17:14189911-14191557 esv3640023;17:14190834-14191460 nsv574421;chr17:14210420-14210623 dbVar;chr17:14224374-14483419 dbVar;chr17:14240922-14242032 dbVar;17:14240923-14242032 esv3640027;chr17:14240941-14242023 dbVar;chr17:14256280-14258428 dbVar;chr17:14272755-14288592 dbVar;chr17:14284612-14628667 dbVar;chr17:14300914-14367997 dbVar;chr17:14314678-14320063 dbVar;chr17:14332272-14332576 dbVar... 557088;527329;960663;960664;271780;2830900;301045;262086;573463;591221;586955;271781;581715;527330;468582;482431;573464;531792;306277;570216;937731;271782;162997;826587;816488;787511;784668;811329;831423;864749;823089;2560430;815034;813495;809567;835854;40950;162998;288724;470190;429012;345937;271783;304081;826588;59114;782435;984637;470191;429013;1070158;... loss;gain 0.505 0.420 17:15422954-15470900 3 96.58 -2.62354415217069 -0.276965016632095 -1.64032033771268 3.6772325764896 4.17517843763452 602125;601097;612683 yes yes 1 9.0958e-01 8.3315e-01 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_gain_source, +1.00);2H-2 (PMP22/TEKT3, +0.00);2J (COX10, +0.00);2L (TVP23C/TVP23C-CDRT4, +0.00);3A (14 genes, +0.00);5F (+0.00) 5 +17_14100119_15442066_DUP_1 17 14100119 15442066 1341947 DUP PMP22 (CMT1A) Pathogenic NA split p12 COX10 NM_001303 4 13972820 14111994 11876 404 30 yes 7 intron6-txEnd CDS-3'UTR 4580 5' 14100118 14111994 dbVar:nssv15124536 17:14110044-14111913 1 Cytochrome-c_oxidase_deficiency_disease;Mitochondrial_complex_4_deficiency,_nuclear_type_3 dbVar chr17:14096997-15486650 0.01 dbVar chr17:14093499-15486000 0.01 30 60.22 -2.62354415217069 -2.20885612270982 -2.47162789907313 0.16322796385632 0.511864222455301 Leigh syndrome;cytochrome-c oxidase deficiency disease;mitochondrial complex 4 deficiency, nuclear type 3;mitochondrial disease AR Definitive;Moderate;Strong;Supportive 10767350;10767350[PMID]_12928484[PMID]_15455402[PMID];12928484;15455402;16103131;22622581;24100867 1352 602125 Mitochondrial complex IV deficiency, nuclear type 3, 619046 (3) AR AR yes 3 8.4050e-02 6.4657e-01 full=5 17_14100119_15442066_DUP_1 17 14100119 15442066 1341947 DUP PMP22 (CMT1A) Pathogenic NA split p12 CDRT15 NM_001007530 3 14138989 14140179 1190 567 100 no 3 txStart-txEnd 5'UTR-3'UTR 14138989 14140179 dbVar chr17:14096997-15486650;chr17:14126839-14220873 0.01 dbVar chr17:14093499-15486000;chr17:14126839-14220873 0.01 96.58 -2.62354415217069 -2.20416703243077 -2.47162789907313 1.67462394349301 1.73432863871862 146822 9 1.2820e-06 7.5064e-03 full=5 17_14100119_15442066_DUP_1 17 14100119 15442066 1341947 DUP PMP22 (CMT1A) Pathogenic NA split p12 HS3ST3B1 NM_006041 3 14204397 14252721 48324 1173 100 no 2 txStart-txEnd 5'UTR-3'UTR 14204397 14252721 dbVar chr17:14096997-15486650 0.01 dbVar chr17:14093499-15486000 0.01 288724;470190;429012;271783;1070158 loss;gain 42.95 -2.62354415217069 -0.276965016632095 -1.64032033771268 3.6772325764896 4.17517843763452 9953 4 2.9349e-01 8.5455e-02 full=5 17_14100119_15442066_DUP_1 17 14100119 15442066 1341947 DUP PMP22 (CMT1A) Pathogenic NA split p12 MGC12916 NR_026880 1 14207056 14209062 2006 0 0 no 1 txStart-txEnd UTR 14207056 14209062 dbVar chr17:14096997-15486650;chr17:14126839-14220873 0.01 dbVar chr17:14093499-15486000;chr17:14126839-14220873 0.01 full=5 @@ -337,7 +304,7 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 3_62939218_65268743_DEL_1 3 62939218 65268743 -2329525 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 ADAMTS9-AS2 NR_038264 1 64670545 64997143 326598 0 0 no 6 txStart-txEnd UTR 64670545 64997143 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 787949 loss 100507098 full=5 3_97483034_97487074_DEL_1 3 97483034 97487074 -4040 DEL BBS3/ARL6 promotor overlapped Pathogenic NA full q11.2 ARL6 EPHA6 CRYBG3 1 dbVar:nssv16214088 3:97486953-97487074 dbVar:nssv15162889;dbVar:nssv15164144;dbVar:nssv15149891;nssv15151839;dbVar:nssv17976063;dbVar:nssv15148953;dbVar:nssv15148997 3:60175-197948027;3:61496-197838262;3:61893-197851986;3:72488758-99614758;3:93519465-145413168;3:93538468-103607593 0.00;0.00;0.00;0.01;0.01;0.04 Bardet-Biedl syndrome 3, 600151 (3) AR;Retinitis pigmentosa 55, 613575 (3) AR;Bardet-Biedl syndrome 1, modifier of, 209900 (3) Digenic recessive,AR dbVar:nssv15147282;dbVar:nssv15146259;dbVar:nssv18842017;dbVar:nssv16254235;dbVar:nssv17171854;morbid:ARL6;dbVar:nssv18326626;dbVar:nssv17971170 3:93538468-116605903;3:93605516-122935530;3:93698392-124492857;3:95563097-102371126;3:97194197-97510809;3:97483602-97520073;3:97483823-97499002;3:97486953-97516893 0.02;0.01;0.01;0.06;1.28;9.52;21.42;0.41 4 Bardet-Biedl_syndrome_1;Bardet-Biedl_syndrome_3;Retinitis_pigmentosa;Retinitis_pigmentosa_55 dbVar chr3:97481287-97495551 0.01 IMH 3:1200531-154949082;3:38627146-149162150;3:75497389-125619977 0.3422 chr3:97481287-97495551 dbVar 0.455 0.335 10.16 0.309918017790144 -0.416168538751037 -0.151628993663861 -0.139439307213778 -0.254839803839483 608845 yes yes 5 1.0130e-02 4.2709e-03 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_loss_source, +1.00);3A (1 gene, +0.00);5F (+0.00) 5 3_97483034_97487074_DEL_1 3 97483034 97487074 -4040 DEL BBS3/ARL6 promotor overlapped Pathogenic NA split q11.2 ARL6 NM_032146 5 97483364 97520086 3710 123 21 no 9 txStart-intron3 5'UTR-CDS 0 5' 97483364 97487074 dbVar:nssv16214088 3:97486953-97487074 4 Bardet-Biedl_syndrome_1;Bardet-Biedl_syndrome_3;Retinitis_pigmentosa;Retinitis_pigmentosa_55 dbVar chr3:97481287-97495551 0.01 IMH 3:1200531-154949082;3:38627146-149162150;3:75497389-125619977 0.3422 30 0 10.16 0.309918017790144 -0.416168538751037 -0.151628993663861 -0.139439307213778 -0.254839803839483 Bardet-Biedl syndrome;Bardet-Biedl syndrome 3;retinitis pigmentosa;retinitis pigmentosa 55 AD;AR Definitive;Strong;Supportive 10973238;10973251;11381270;11567139;12016587;12118255;12524598;12567324;12837689;14520415;15137946;15258860;15314642;16308660;16380913;16582908;16606853;17160889;18203199;18327255;19858128;19956407;20142850;20301537[PMID];20301590[PMID];20333246;20618352;20671153;20805367;21282186;21937992;22085962;22334370;22353939;250666;26355662;26489029;27124789;27486776;28130426;28502102;31736247;7711739;7987310;8298649;9714014 84100 608845 Bardet-Biedl syndrome 3, 600151 (3) AR;Retinitis pigmentosa 55, 613575 (3) AR;(Bardet-Biedl syndrome 1, modifier of), 209900 (3) Digenic recessive,AR AR;Digenic recessive,AR yes yes 5 1.0130e-02 4.2709e-03 full=5 -5_88774329_91802402_DEL_1 5 88774329 91802402 -3028073 DEL TAD MEF2C Pathogenic NA full q14.3 MIR3660;LINC01339;CETN3;LOC731157;MBLAC2;POLR3G;LYSMD3;ADGRV1;LUCAT1;ARRDC3;ARRDC3-AS1 MEF2C-AS1 NR2F1-AS1 11 AGO2 (morbid/RE=mTL_miRNA);B4GALNT1 (morbid/RE=mTL_miRNA);CEP57 (morbid/RE=mTL_miRNA);EPHA2 (morbid/RE=mTL_miRNA);GFPT1 (morbid/RE=mTL_miRNA);GPSM2 (morbid/RE=mTL_miRNA);KDM6A (HI=3/morbid/RE=mTL_miRNA);KMT2A (HI=3/morbid/RE=mTL_miRNA);MEF2C (HI=3/morbid/RE=ABC_enhancer+GH_enhancer);MSX2 (morbid/RE=mTL_miRNA);NODAL (morbid/RE=mTL_miRNA);NR2F1 (HI=3/morbid/RE=ABC_enhancer);PIGS (morbid/RE=mTL_miRNA);PLEKHM1 (morbid/RE=mTL_miRNA);PPP1R15B (morbid/RE=mTL_miRNA);PRKACB (morbid/RE=mTL_miRNA);SELENOI (morbid/RE=mTL_miRNA);UFL1 (morbid/RE=mTL_miRNA) dbVar:nssv17172150;dbVar:nssv17172151;dbVar:nssv17974002;dbVar:nssv17974003;dbVar:nssv17976802 5:89920928-89923613;5:89938434-89948400;5:89938454-89949769;5:90136804-90261231;5:90144435-90159694 ?Febrile seizures, familial, 4, 604352 (3) AD;Usher syndrome, type 2C, 605472 (3) Digenic dominant,AR;Usher syndrome, type 2C, GPR98;PDZD7 digenic, 605472 (3) Digenic dominant,AR;Usher_syndrome_type_2C CLN:2419348;dbVar:nssv15120153;dbVar:nssv15132320;dbVar:nssv15222969;dbVar:nssv15771046;dbVar:nssv15772847;nssv15776039;dbVar:nssv15774334;dbVar:nssv16211859;dbVar:nssv17171561;dbVar:nssv17955830;dbVar:nssv17955831;dbVar:nssv17970856;dbVar:nssv17971694;dbVar:nssv17972093;dbVar:nssv17972414;dbVar:nssv17974150;dbVar:nssv17975051;dbVar:nssv17976597;dbVar:nssv18787826;dbVar:nssv18787827;dbVar:nssv18787828;dbVar:nssv18787829;dbVar:nssv18787830;dbVar:nssv18787831;dbVar:nssv18787832;dbVar:nssv18787833;dbVar:nssv18787834;dbVar:nssv18792626;dbVar:nssv8639335;dbVar:nssv8639887;morbid:ADGRV1 5:89414155-89415062;5:89414156-89415061;5:89523964-90412409;5:89854614-90460254;5:89854714-90459717;5:89910547-90079868;5:89910633-90002231;5:89915000-89968362;5:89918395-90059306;5:89930912-90079894;5:89940238-89999954;5:89940504-89986878;5:89940571-89940765;5:89953703-89954115;5:89953723-89954095;5:89969852-89975466;5:89988605-90077246;5:89989688-90000325;5:89990520-90136394;5:89992735-90125023;5:89999463-89999632;5:90015866-90016040;5:90046349-90049666;5:90112103-90219415;5:90119223-90151738;5:90150020-90159573;5:90151539-90151738;5:90221275-90357290;5:90261233-90678909;5:90368245-90398177;5:90368250-90459732 CLN:1393621;CLN:1447486;dbVar:nssv17971430;dbVar:nssv17974885 5:89949103-89949102;5:89949103-89949236;5:89990260-89990259;5:89990260-89990371 dbVar:nssv15164761;dbVar:nssv15164765;dbVar:nssv15151111;nssv15151221;dbVar:nssv16206767;dbVar:nssv15120567;dbVar:nssv15132159;dbVar:nssv15142272;dbVar:nssv15151420;dbVar:nssv15135062;dbVar:nssv16207624;dbVar:nssv15776426 5:13649-180905029;5:25329-180693344;5:113578-180719789;5:72790062-97478870;5:73459012-110145153;5:86420656-92718726;5:86621338-89204392;5:87399002-92675748;5:87493550-92528869;5:87792845-109221844;5:89949119-129317455 1.67;1.68;1.68;12.26;8.25;48.08;16.65;57.39;60.14;14.13;4.71 dbVar:nssv15151179;dbVar:nssv17970035;dbVar:nssv15138006;dbVar:nssv15127576;dbVar:nssv15120741;dbVar:nssv15122759;dbVar:nssv15143209;nssv17976344;dbVar:nssv15133640;dbVar:nssv15140345;dbVar:nssv15132311;dbVar:nssv18841850;dbVar:nssv15167313;dbVar:nssv15121450;dbVar:nssv15142367;dbVar:nssv15132971;dbVar:nssv15133836;dbVar:nssv15121948;dbVar:nssv15132637;dbVar:nssv15121951;dbVar:nssv15138054;dbVar:nssv15120743;dbVar:nssv15139660;dbVar:nssv8639414;dbVar:nssv15138098;dbVar:nssv15152898 5:17628742-176575720;5:82185952-90110454;5:83899399-110770779;5:85045626-89302638;5:86039541-91633081;5:86062777-91444662;5:86400001-154000000;5:86487716-89253266;5:86530416-88893604;5:86672701-100860147;5:87485354-93120303;5:87512315-95096562;5:87664107-91698938;5:87764486-90147447;5:88016215-88783092;5:88062498-89028098;5:88232588-93437723;5:88348148-88783092;5:88377170-104022949;5:89670424-127412115;5:90682370-97701584;5:90707526-130655256;5:91064111-93896378;5:91327087-93283043;5:91504102-104858348 1.91;16.86;11.27;12.41;51.11;49.62;4.48;17.32;5.05;21.34;53.74;39.93;72.48;57.62;1.14;26.28;58.17;2.01;19.35;5.65;15.96;2.74;26.07;24.30;2.23 319 ADGRV1-Related_Disorders;ADGRV1-related_condition;Autosomal_recessive_sensorineural_hearing_loss;Ear_malformation;Febrile_seizures,_familial,_4;Hearing_impairment;Hearing_loss,_autosomal_recessive;Rare_genetic_deafness;Retinal_dystrophy;Usher_syndrome;Usher_syndrome_type_2;Usher_syndrome_type_2C IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 chr5:88916144-88918908 dbVar;chr5:88933279-88933593 dbVar;chr5:89264627-89264683 dbVar;chr5:89359900-89373100 dbVar;chr5:89531601-89531940 dbVar;chr5:89628452-89648641 dbVar;chr5:89701625-89701760 dbVar;5:89860422-89860742 1000g;chr5:90113593-90118383 dbVar;chr5:90262584-90262832 dbVar;chr5:90289016-90289191 dbVar;chr5:90438449-90438606 dbVar;chr5:90610837-90613664 dbVar;chr5:90618087-90620700 dbVar;chr5:90866987-90867072 dbVar;chr5:90897077-90897172 dbVar;chr5:91237043-91237105 dbVar;chr5:91527295-91534644 dbVar;chr5:91620000-91629000 dbVar chr5:88908578-88917988 dbVar;chr5:88923056-88924318 dbVar;chr5:89235196-89235428 dbVar;5:89264627-89264683 gnomAD-SV_v2.1_DUP_5_15710;chr5:89450461-89452777 dbVar;chr5:89572897-89573040 dbVar;chr5:89657266-89676019 dbVar;5:89788663-89788952 IMH;chr5:90104120-90104339 dbVar;chr5:90250672-90250748 dbVar;chr5:90273278-90273491 dbVar;chr5:90383359-90394423 dbVar;chr5:90574109-90575794 dbVar;chr5:90611309-90627643 dbVar;chr5:90674000-90680000 dbVar;5:90866987-90867072 gnomAD-SV_v2.1_DUP_5_15730;chr5:90897800-90897875 dbVar;chr5:91276653-91280205 dbVar;chr5:91546845-91547285 dbVar chr5:88806361-88806411 dbVar;chr5:88831687-88837255 dbVar;chr5:89003565-89004043 dbVar;chr5:89003715-89004039 dbVar;5:89003716-89004039 esv3605750;5:89003721-89004043 esv2657768;chr5:89029798-89029893 dbVar;chr5:89045213-89045498 dbVar;chr5:89047323-89047872 dbVar;chr5:89067203-89083487 dbVar;chr5:89101197-89101273 dbVar;chr5:89113277-89114892 dbVar;chr5:89131325-89131385 dbVar;chr5:89209000-89239000 dbVar;chr5:89257321-89262348 dbVar;chr5:89359000-89373000 dbVar;chr5:89388378-89389723 dbVar;chr5:89436013-89437273 dbVar;chr5:89563059-89564683 dbVar;chr5:89578750-89579142 dbVar... chr5:88803653-88817310 dbVar;chr5:88824732-88824785 dbVar;chr5:88832512-88834519 dbVar;5:89003565-89004043 gnomAD-SV_v2.1_DEL_5_59965;5:89003716-89004039 1000g;5:89003721-89004043 IMH;chr5:89018000-89031000 dbVar;chr5:89039679-89039840 dbVar;chr5:89047322-89047872 dbVar;chr5:89052853-89052953 dbVar;chr5:89084915-89086582 dbVar;chr5:89112611-89115172 dbVar;chr5:89124435-89124505 dbVar;chr5:89171348-89171401 dbVar;chr5:89234368-89234446 dbVar;chr5:89299879-89302011 dbVar;chr5:89388306-89389753 dbVar;chr5:89407162-89407215 dbVar;chr5:89471562-89472013 dbVar;chr5:89574182-89585732 dbVar... 1883320;592857;593588;593633;1328155;634829;634852;564142;727176;624588;1888140;2114074;940517;940575;674174;856984;857645;51544;620748;744569;430608;278131;1012046;241490;1048899;1049414;79894;80096;80110;80111;709899;343338;783070;808135;854054;116747;848199;830393;505759;187745;1896842;161012;433625;85336;644330;509507;540671;584871;870987;1042268;1048901;... loss;gain 0.335 0.275 5:91802185-91802338 L2a 38.97 0.855259196084686 1.02927857149332 1.26063232799998 1.13380694792028 1.83366808117122 602851 yes yes 1 9.8715e-01 9.7875e-01 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_loss_source, +1.00);3A (11 genes, +0.00);5F (+0.00) 5 +5_88774329_91802402_DEL_1 5 88774329 91802402 -3028073 DEL TAD MEF2C Pathogenic NA full q14.3 MIR3660;LINC01339;CETN3;LOC731157;MBLAC2;POLR3G;LYSMD3;ADGRV1;LUCAT1;ARRDC3;ARRDC3-AS1 MEF2C-AS1 NR2F1-AS1 11 AGO2 (morbid/RE=mTL_miRNA);B4GALNT1 (morbid/RE=mTL_miRNA);CEP57 (morbid/RE=mTL_miRNA);EPHA2 (morbid/RE=mTL_miRNA);GFPT1 (morbid/RE=mTL_miRNA);GPSM2 (morbid/RE=mTL_miRNA);KDM6A (HI=3/morbid/RE=mTL_miRNA);KMT2A (HI=3/morbid/RE=mTL_miRNA);MEF2C (HI=3/morbid/RE=ABC_enhancer+GH_enhancer);MSX2 (morbid/RE=mTL_miRNA);NODAL (morbid/RE=mTL_miRNA);NR2F1 (HI=3/morbid/RE=ABC_enhancer);PIGS (morbid/RE=mTL_miRNA);PLEKHM1 (morbid/RE=mTL_miRNA);PPP1R15B (morbid/RE=mTL_miRNA);PRKACB (morbid/RE=mTL_miRNA);SELENOI (morbid/RE=mTL_miRNA) dbVar:nssv17172150;dbVar:nssv17172151;dbVar:nssv17974002;dbVar:nssv17974003;dbVar:nssv17976802 5:89920928-89923613;5:89938434-89948400;5:89938454-89949769;5:90136804-90261231;5:90144435-90159694 ?Febrile seizures, familial, 4, 604352 (3) AD;Usher syndrome, type 2C, 605472 (3) Digenic dominant,AR;Usher syndrome, type 2C, GPR98;PDZD7 digenic, 605472 (3) Digenic dominant,AR;Usher_syndrome_type_2C CLN:2419348;dbVar:nssv15120153;dbVar:nssv15132320;dbVar:nssv15222969;dbVar:nssv15771046;dbVar:nssv15772847;nssv15776039;dbVar:nssv15774334;dbVar:nssv16211859;dbVar:nssv17171561;dbVar:nssv17955830;dbVar:nssv17955831;dbVar:nssv17970856;dbVar:nssv17971694;dbVar:nssv17972093;dbVar:nssv17972414;dbVar:nssv17974150;dbVar:nssv17975051;dbVar:nssv17976597;dbVar:nssv18787826;dbVar:nssv18787827;dbVar:nssv18787828;dbVar:nssv18787829;dbVar:nssv18787830;dbVar:nssv18787831;dbVar:nssv18787832;dbVar:nssv18787833;dbVar:nssv18787834;dbVar:nssv18792626;dbVar:nssv8639335;dbVar:nssv8639887;morbid:ADGRV1 5:89414155-89415062;5:89414156-89415061;5:89523964-90412409;5:89854614-90460254;5:89854714-90459717;5:89910547-90079868;5:89910633-90002231;5:89915000-89968362;5:89918395-90059306;5:89930912-90079894;5:89940238-89999954;5:89940504-89986878;5:89940571-89940765;5:89953703-89954115;5:89953723-89954095;5:89969852-89975466;5:89988605-90077246;5:89989688-90000325;5:89990520-90136394;5:89992735-90125023;5:89999463-89999632;5:90015866-90016040;5:90046349-90049666;5:90112103-90219415;5:90119223-90151738;5:90150020-90159573;5:90151539-90151738;5:90221275-90357290;5:90261233-90678909;5:90368245-90398177;5:90368250-90459732 CLN:1393621;CLN:1447486;dbVar:nssv17971430;dbVar:nssv17974885 5:89949103-89949102;5:89949103-89949236;5:89990260-89990259;5:89990260-89990371 dbVar:nssv15164761;dbVar:nssv15164765;dbVar:nssv15151111;nssv15151221;dbVar:nssv16206767;dbVar:nssv15120567;dbVar:nssv15132159;dbVar:nssv15142272;dbVar:nssv15151420;dbVar:nssv15135062;dbVar:nssv16207624;dbVar:nssv15776426 5:13649-180905029;5:25329-180693344;5:113578-180719789;5:72790062-97478870;5:73459012-110145153;5:86420656-92718726;5:86621338-89204392;5:87399002-92675748;5:87493550-92528869;5:87792845-109221844;5:89949119-129317455 1.67;1.68;1.68;12.26;8.25;48.08;16.65;57.39;60.14;14.13;4.71 dbVar:nssv15151179;dbVar:nssv17970035;dbVar:nssv15138006;dbVar:nssv15127576;dbVar:nssv15120741;dbVar:nssv15122759;dbVar:nssv15143209;nssv17976344;dbVar:nssv15133640;dbVar:nssv15140345;dbVar:nssv15132311;dbVar:nssv18841850;dbVar:nssv15167313;dbVar:nssv15121450;dbVar:nssv15142367;dbVar:nssv15132971;dbVar:nssv15133836;dbVar:nssv15121948;dbVar:nssv15132637;dbVar:nssv15121951;dbVar:nssv15138054;dbVar:nssv15120743;dbVar:nssv15139660;dbVar:nssv8639414;dbVar:nssv15138098;dbVar:nssv15152898 5:17628742-176575720;5:82185952-90110454;5:83899399-110770779;5:85045626-89302638;5:86039541-91633081;5:86062777-91444662;5:86400001-154000000;5:86487716-89253266;5:86530416-88893604;5:86672701-100860147;5:87485354-93120303;5:87512315-95096562;5:87664107-91698938;5:87764486-90147447;5:88016215-88783092;5:88062498-89028098;5:88232588-93437723;5:88348148-88783092;5:88377170-104022949;5:89670424-127412115;5:90682370-97701584;5:90707526-130655256;5:91064111-93896378;5:91327087-93283043;5:91504102-104858348 1.91;16.86;11.27;12.41;51.11;49.62;4.48;17.32;5.05;21.34;53.74;39.93;72.48;57.62;1.14;26.28;58.17;2.01;19.35;5.65;15.96;2.74;26.07;24.30;2.23 319 ADGRV1-Related_Disorders;ADGRV1-related_condition;Autosomal_recessive_sensorineural_hearing_loss;Ear_malformation;Febrile_seizures,_familial,_4;Hearing_impairment;Hearing_loss,_autosomal_recessive;Rare_genetic_deafness;Retinal_dystrophy;Usher_syndrome;Usher_syndrome_type_2;Usher_syndrome_type_2C IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 chr5:88916144-88918908 dbVar;chr5:88933279-88933593 dbVar;chr5:89264627-89264683 dbVar;chr5:89359900-89373100 dbVar;chr5:89531601-89531940 dbVar;chr5:89628452-89648641 dbVar;chr5:89701625-89701760 dbVar;5:89860422-89860742 1000g;chr5:90113593-90118383 dbVar;chr5:90262584-90262832 dbVar;chr5:90289016-90289191 dbVar;chr5:90438449-90438606 dbVar;chr5:90610837-90613664 dbVar;chr5:90618087-90620700 dbVar;chr5:90866987-90867072 dbVar;chr5:90897077-90897172 dbVar;chr5:91237043-91237105 dbVar;chr5:91527295-91534644 dbVar;chr5:91620000-91629000 dbVar chr5:88908578-88917988 dbVar;chr5:88923056-88924318 dbVar;chr5:89235196-89235428 dbVar;5:89264627-89264683 gnomAD-SV_v2.1_DUP_5_15710;chr5:89450461-89452777 dbVar;chr5:89572897-89573040 dbVar;chr5:89657266-89676019 dbVar;5:89788663-89788952 IMH;chr5:90104120-90104339 dbVar;chr5:90250672-90250748 dbVar;chr5:90273278-90273491 dbVar;chr5:90383359-90394423 dbVar;chr5:90574109-90575794 dbVar;chr5:90611309-90627643 dbVar;chr5:90674000-90680000 dbVar;5:90866987-90867072 gnomAD-SV_v2.1_DUP_5_15730;chr5:90897800-90897875 dbVar;chr5:91276653-91280205 dbVar;chr5:91546845-91547285 dbVar chr5:88806361-88806411 dbVar;chr5:88831687-88837255 dbVar;chr5:89003565-89004043 dbVar;chr5:89003715-89004039 dbVar;5:89003716-89004039 esv3605750;5:89003721-89004043 esv2657768;chr5:89029798-89029893 dbVar;chr5:89045213-89045498 dbVar;chr5:89047323-89047872 dbVar;chr5:89067203-89083487 dbVar;chr5:89101197-89101273 dbVar;chr5:89113277-89114892 dbVar;chr5:89131325-89131385 dbVar;chr5:89209000-89239000 dbVar;chr5:89257321-89262348 dbVar;chr5:89359000-89373000 dbVar;chr5:89388378-89389723 dbVar;chr5:89436013-89437273 dbVar;chr5:89563059-89564683 dbVar;chr5:89578750-89579142 dbVar... chr5:88803653-88817310 dbVar;chr5:88824732-88824785 dbVar;chr5:88832512-88834519 dbVar;5:89003565-89004043 gnomAD-SV_v2.1_DEL_5_59965;5:89003716-89004039 1000g;5:89003721-89004043 IMH;chr5:89018000-89031000 dbVar;chr5:89039679-89039840 dbVar;chr5:89047322-89047872 dbVar;chr5:89052853-89052953 dbVar;chr5:89084915-89086582 dbVar;chr5:89112611-89115172 dbVar;chr5:89124435-89124505 dbVar;chr5:89171348-89171401 dbVar;chr5:89234368-89234446 dbVar;chr5:89299879-89302011 dbVar;chr5:89388306-89389753 dbVar;chr5:89407162-89407215 dbVar;chr5:89471562-89472013 dbVar;chr5:89574182-89585732 dbVar... 1883320;592857;593588;593633;1328155;634829;634852;564142;727176;624588;1888140;2114074;940517;940575;674174;856984;857645;51544;620748;744569;430608;278131;1012046;241490;1048899;1049414;79894;80096;80110;80111;709899;343338;783070;808135;854054;116747;848199;830393;505759;187745;1896842;161012;433625;85336;644330;509507;540671;584871;870987;1042268;1048901;... loss;gain 0.335 0.275 5:91802185-91802338 L2a 38.97 0.855259196084686 1.02927857149332 1.26063232799998 1.13380694792028 1.83366808117122 602851 yes yes 1 9.8715e-01 9.7875e-01 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_loss_source, +1.00);3A (11 genes, +0.00);5F (+0.00) 5 5_88774329_91802402_DEL_1 5 88774329 91802402 -3028073 DEL TAD MEF2C Pathogenic NA split q14.3 MIR3660 NR_037433 1 89312437 89312537 100 0 0 no 1 txStart-txEnd UTR 89312437 89312537 IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 100500825 full=5 5_88774329_91802402_DEL_1 5 88774329 91802402 -3028073 DEL TAD MEF2C Pathogenic NA split q14.3 LINC01339 NR_120601 1 89454155 89585888 131733 0 0 no 6 txStart-txEnd UTR 89454155 89585888 IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 101929495 full=5 5_88774329_91802402_DEL_1 5 88774329 91802402 -3028073 DEL TAD MEF2C Pathogenic NA split q14.3 CETN3 NM_001297765 2 89688073 89705573 17500 576 100 no 6 txStart-txEnd 5'UTR-3'UTR 89688073 89705573 IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 5.94 0.855259196084686 1.02927857149332 1.26063232799998 -1.0886019180172 0.322004765294048 1070 7 1.0528e-04 1.1321e-02 full=5 @@ -353,13 +320,13 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 6_29854871_29896710_DEL_1 6 29854871 29896710 -41839 DEL Benign NA split p22.1 HLA-H NR_001434 4 29855349 29858856 3507 0 0 no 8 txStart-txEnd UTR 29855349 29858856 morbid:HLA-H 6:29855350-29858856 DDD:20149;IMH;dbVar 6:29698616-29950994;6:29722846-29947201;6:29723410-29948590;6:29733227-29961287;6:29760864-29916953;6:29762617-29919277;6:29767291-29923611;6:29767394-29923982;6:29769716-29865367;6:29771866-29927541;6:29773145-29867669;6:29777143-29871794;6:29778441-29873573;chr6:29833263-29905667;6:29840747-29917149 0.1073 1000g;DDD:20139;DDD:20142;DDD:20149;DDD:20154;IMH;dbVar;dgv1087e199;dgv1726e212;dgv7e195;esv2422126;esv2761013;esv2763941;esv3608493 6:29745199-29961072;6:29805446-29928380;6:29829109-29874629;6:29836637-29921127;6:29837073-29937311;6:29840747-29917149;6:29842746-29916111;6:29851122-29905999;chr6:29851172-29904515;6:29851173-29904515;6:29851173-29904515;6:29851444-29865718;6:29851444-29899493;6:29853315-29914786 0.4519 IMH 6:26743912-58149585;6:26745294-58149309 0.3871 3077 yes full=5 6_29854871_29896710_DEL_1 6 29854871 29896710 -41839 DEL Benign NA split p22.1 HCG4B NR_001317 3 29892368 29894992 2624 0 0 no 1 txStart-txEnd UTR 29892368 29894992 DDD:20149;IMH;dbVar 6:29698616-29950994;6:29722846-29947201;6:29723410-29948590;6:29733227-29961287;6:29760864-29916953;6:29762617-29919277;6:29767291-29923611;6:29767394-29923982;6:29771866-29927541;chr6:29833263-29905667;6:29840747-29917149 0.1073 1000g;DDD:20139;DDD:20142;DDD:20149;DDD:20154;DDD:20157;IMH;dbVar;dgv1087e199;dgv1089e199;dgv1734e212;dgv7e195;esv2761013;esv2763941;esv3608493 6:29745199-29961072;6:29805446-29928380;6:29836637-29921127;6:29837073-29937311;6:29840747-29917149;6:29842746-29916111;6:29851122-29905999;chr6:29851172-29904515;6:29851173-29904515;6:29851173-29904515;6:29851444-29899493;6:29853315-29914786;6:29861152-29916006;6:29864510-29936194;6:29890896-29906192;6:29891102-29906000 0.4519 IMH 6:26743912-58149585;6:26745294-58149309 0.3871 80868 full=5 8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA full q12.1 RPS20;SNORD54;CERNA3;MOS;PLAG1;CHCHD7 SNORA1B SDR16C5 6 LYN (morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer+GH_promoter_enhancer) Adenomas, salivary gland pleomorphic, somatic, 181030 (3);Silver-Russell syndrome 4, 618907 (3) AD;Oocyte;zygote;embryo maturation arrest 20, 620383 (3) AR morbid:MOS;morbid:PLAG1 8:57025501-57026541;8:57073468-57123832 dbVar:nssv15169207;dbVar:nssv15128680;dbVar:nssv15161801;nssv15777239;nssv17976962;dbVar:nssv15161417;nssv15161657;dbVar:nssv15161846;dbVar:nssv15169210;dbVar:nssv15161105;dbVar:nssv15161269;dbVar:nssv15161748;dbVar:nssv15161087;dbVar:nssv15161426;dbVar:nssv15161357;dbVar:nssv15777249;dbVar:nssv15147495;dbVar:nssv15774700;dbVar:nssv15161758;dbVar:nssv15161797;dbVar:nssv15139743;dbVar:nssv15135704 8:10214-146293414;8:13939-146304022;8:158049-146295771;8:158050-146295771;8:158992-146280828;8:164985-146293414;8:176453-146294098;8:191531-146274835;8:191531-146280020;8:191606-146280167;8:12491000-146295771;8:21149034-146295771;8:31936552-146295771;8:36437622-60531557;8:39555658-64049089;8:46942957-70216022;8:46942963-140297737;8:53436132-65195953;8:56228415-65864987 0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.14;0.15;0.16;0.76;0.75;0.79;0.20;1.56;1.90 dbVar:nssv15167540;dbVar:nssv15148967;dbVar:nssv15138741;dbVar:nssv15125104;dbVar:nssv15137960;dbVar:nssv15137390;dbVar:nssv15121489;dbVar:nssv15124419 8:49822484-58822602;8:50384338-58738029;8:54237950-62775577;8:54407102-58403572;8:55677511-57697858;8:55733918-62058861;8:56335974-59749312;8:56405321-57358911 2.04;2.20;2.15;4.59;9.09;2.90;5.38;19.25 8:57048633-57098412 1000g;chr8:57153249-57153357 dbVar; chr8:57048632-57098412 dbVar;chr8:57048719-57098544 dbVar;chr8:57161314-57168512 dbVar chr8:56988070-56988448 dbVar;8:56988698-56989817 1000g;8:56988746-56989825 DDD:27790;chr8:56988762-56997935 dbVar;chr8:57005850-57007074 dbVar;chr8:57059737-57063078 dbVar;chr8:57160128-57168353 dbVar;chr8:57161314-57168512 dbVar chr8:56988017-57000275 dbVar;chr8:56988697-56989817 dbVar;chr8:56988709-56997905 dbVar;chr8:56988754-56989776 dbVar;8:56988763-56997935 1000g;chr8:57047231-57047490 dbVar;chr8:57154268-57155609 dbVar;chr8:57161113-57168156 dbVar 848459;394952;394953;395216;227414;227459;534473;534774;534866;302857;580548;575671;484667;558558;471349;469505;335198;335303;335354;376852;376955;376962;376972;376977;564747;681488;259626;589430;571930;312032;312165;312226;312239;302858;303092;303101;303169;303182;303196;303201;280931;777179;855820;280932;282047;282072 loss;gain 0.410 0.330 8:57169736-57169990 AluSz6 78.38 0.98432298330431 0.46663829854876 0.586548999968454 2.2343517715388 2.48184869967673 190060;603026 yes 0 9.9532e-01 8.2992e-01 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_loss_source, +1.00);3A (6 genes, +0.00);5F (+0.00) 5 -8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 RPS20 NM_001146227 3 56979812 56987065 936 177 41 no 6 txStart-intron3 5'UTR-CDS 124 5' 56986129 56987065 29.1 0.98432298330431 -0.0464637247715686 0.36681079114905 -0.0133102053832282 2.09183372030708 Diamond-Blackfan anemia;familial colorectal cancer type X;hereditary nonpolyposis colon cancer AD Limited;Supportive 24941021[PMID];32790018[PMID] 6224 5 2.0686e-02 6.8632e-01 full=5 +8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 RPS20 NM_001146227 3 56979812 56987065 936 177 41 no 6 txStart-intron3 5'UTR-CDS 124 5' 56986129 56987065 29.1 0.98432298330431 -0.0464637247715686 0.36681079114905 -0.0133102053832282 2.09183372030708 Diamond-Blackfan anemia;Lynch syndrome;familial colorectal cancer type X;hereditary nonpolyposis colon cancer AD Limited;Supportive 24941021[PMID];32790018[PMID] 6224 5 2.0686e-02 6.8632e-01 full=5 8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 SNORD54 NR_002437 1 56986397 56986460 63 0 0 no 1 txStart-txEnd UTR 56986397 56986460 26795 full=5 8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 CERNA3 NR_149110 1 56987150 56987833 683 0 0 no 2 txStart-txEnd UTR 56987150 56987833 105375847 full=5 8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 MOS NM_005372 1 57025500 57026541 1041 1041 100 no 1 txStart-txEnd 5'UTR-3'UTR 57025500 57026541 Oocyte;zygote;embryo maturation arrest 20, 620383 (3) AR morbid:MOS 8:57025501-57026541 78.38 0.159444434408663 0.46663829854876 0.524682444320288 2.2343517715388 2.48184869967673 oocyte/zygote/embryo maturation arrest 20 Limited 34779126;34997960;35670744 55034 190060 Oocyte/zygote/embryo maturation arrest 20, 620383 (3) AR AR yes 3 5.8928e-01 1.4931e-01 full=5 8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 PLAG1 NM_001114634 2 57073467 57123832 50365 1503 100 no 4 txStart-txEnd 5'UTR-3'UTR 57073467 57123832 Adenomas, salivary gland pleomorphic, somatic, 181030 (3);Silver-Russell syndrome 4, 618907 (3) AD morbid:PLAG1 8:57073468-57123832 280931;777179 gain 15.18 0.393657994766781 -2.53125239294469 -2.47162789907313 -0.349819812502603 1.96019845356841 silver-russell syndrome 4 AD Moderate;Strong 15606491;28796236;32546215 5324 603026 Adenomas, salivary gland pleomorphic, somatic, 181030 (3);Silver-Russell syndrome 4, 618907 (3) AD AD yes 0 9.9532e-01 8.2992e-01 full=5 8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 CHCHD7 NM_001011668 3 57124347 57131368 7021 333 100 no 5 txStart-txEnd 5'UTR-3'UTR 57124347 57131368 47.62 0.447428062348521 0.400234098889925 0.586548999968454 -0.725400991144389 -0.857804306808559 79145 6 3.4885e-02 3.8798e-01 full=5 -X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA full p11.22 KDM5C;IQSEC2;SMC1A;MIR6857;RIBC1;HSD17B10;HUWE1;MIR98;MIRLET7F2 MIR6894 PHF8 9 ACADM (morbid/RE=mTL_miRNA);ACTA1 (morbid/RE=mTL_miRNA);ACVR2B (morbid/RE=mTL_miRNA);ADA (morbid/RE=mTL_miRNA);ADGRE2 (morbid/RE=mTL_miRNA);ADGRG1 (morbid/RE=mTL_miRNA);ADH5 (morbid/RE=mTL_miRNA);AGO1 (morbid/RE=mTL_miRNA);AGPS (morbid/RE=mTL_miRNA);AK2 (morbid/RE=mTL_miRNA);ALAS2 (morbid/RE=ABC_enhancer);ALDH1A3 (morbid/RE=mTL_miRNA);ALDH7A1 (morbid/RE=mTL_miRNA);ALG3 (morbid/RE=mTL_miRNA);ALG8 (morbid/RE=mTL_miRNA);AMD1 (morbid/RE=mTL_miRNA);AMMECR1 (morbid/RE=mTL_miRNA);ANKRD11 (HI=3/morbid/RE=mTL_miRNA);ANTXR2 (morbid/RE=mTL_miRNA);AP1S1 (morbid/RE=mTL_miRNA);ARCN1 (HI=3/morbid/RE=mTL_miRNA);ARHGEF18 (morbid/RE=mTL_miRNA);ARID1A (HI=3/morbid/RE=mTL_miRNA);ARID1B (HI=3/morbid/RE=mTL_miRNA);ATL1 (morbid/RE=mTL_miRNA);ATP13A3 (morbid/RE=mTL_miRNA);ATP2A2 (morbid/RE=mTL_miRNA);ATP7B (morbid/RE=mTL_miRNA);ATR (morbid/RE=mTL_miRNA);ATXN2 (morbid/RE=mTL_miRNA);B4GAT1 (morbid/RE=mTL_miRNA);BACH1 (morbid/RE=mTL_miRNA);BCL11A (HI=3/morbid/RE=mTL_miRNA);BCL2 (morbid/RE=mTL_miRNA);BCOR (HI=3/morbid/RE=mTL_miRNA);BNC2 (morbid/RE=mTL_miRNA);C12orf4 (morbid/RE=mTL_miRNA);C3 (morbid/RE=mTL_miRNA);CACNA1C (morbid/RE=mTL_miRNA);CACNB2 (morbid/RE=mTL_miRNA);CALM1 (morbid/RE=mTL_miRNA);CANT1 (morbid/RE=mTL_miRNA);CAPN15 (morbid/RE=mTL_miRNA);CBL (morbid/RE=mTL_miRNA);CCND2 (morbid/RE=mTL_miRNA);CCNF (morbid/RE=mTL_miRNA);CD59 (morbid/RE=mTL_miRNA);CDKN1A (morbid/RE=mTL_miRNA);CDKN1B (HI=3/morbid/RE=mTL_miRNA);CEBPD (morbid/RE=mTL_miRNA)... Xp11.22 region (includes HUWE1) TS3:ISCA-46299;dbVar:nssv15147941;dbVar:nssv15147942;dbVar:nssv15161312;nssv15161529;dbVar:nssv15161768 X:53276031-53298472;X:53283514-53325284;X:53363457-53793054;X:53559549-53622547;X:53559733-53790650 Cornelia de Lange syndrome 2, 300590 (3) XLD;Developmental and epileptic encephalopathy 85, with or without midline brain defects, 301044 (3) XLD;HSD10 mitochondrial disease, 300438 (3) XLD;Intellectual developmental disorder, XL 1, 309530 (3) XLD;Intellectual developmental disorder, XL syndromic, Turner type, 309590 (3) XL;Intellectual_disability,_X-linked_1 CLN:1065452;HI3:IQSEC2;HI3:SMC1A;dbVar:nssv15769470;dbVar:nssv16212358;dbVar:nssv16215156;dbVar:nssv17171530;dbVar:nssv17171900;dbVar:nssv17172048;dbVar:nssv17172462;dbVar:nssv17970926;dbVar:nssv17971164;dbVar:nssv18788536;dbVar:nssv18791522;morbid:HSD17B10;morbid:HUWE1;morbid:IQSEC2;morbid:SMC1A X:53253923-53254071;X:53262059-53350522;X:53263402-53280376;X:53264077-53264258;X:53264078-53264257;X:53270947-53271111;X:53279442-53280376;X:53295510-53310766;X:53348888-53349736;X:53401070-53449677;X:53401071-53449677;X:53430479-53432101;X:53430479-53442138;X:53435974-53442138;X:53448826-53449569;X:53449432-53449549;X:53458209-53461317;X:53559057-53713664 233 Abnormal_heart_valve_morphology;Congenital_muscular_hypertrophy-cerebral_syndrome;Cornelia_de_Lange_syndrome_1;Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects;Epileptic_encephalopathy;Global_developmental_delay;HSD10_mitochondrial_disease;Hirsutism;Hypertonia;Inborn_genetic_diseases;Intellectual_disability;Intellectual_disability,_X-linked_1;Intellectual_disability,_X-linked_syndromic,_Turner_type;Microcephaly;Neurodevelopmental_delay;Paraplegia-intellectual_disability-hyperkeratosis_syndrome;Progressive_sensorineural_hearing_impairment;SMC1A-related_cohesinopathy;See_cases;Severe_intellectual_deficiency;Syndromic_X-linked_intellectual_disability_Claes-Jensen_type;Undetermined_early-onset_epileptic_encephalopathy IMH X:46769178-84009828 0.1280 chrX:53351112-53351177 dbVar;chrX:53471700-53477100 dbVar;chrX:53592722-53593564 dbVar;chrX:53727000-53788500 dbVar;chrX:53787836-53829639 dbVar;chrX:53803200-53918400 dbVar; chrX:53332800-53414100 dbVar;chrX:53470041-53488385 dbVar;chrX:53552999-53623500 dbVar;chrX:53666546-53667044 dbVar;chrX:53775999-53852000 dbVar;chrX:53800000-53808000 dbVar;chrX:53820721-53862221 dbVar chrX:53318184-53318333 dbVar;chrX:53319071-53320350 dbVar;chrX:53414007-53419436 dbVar;chrX:53475340-53498420 dbVar;X:53478094-53491686 1000g;X:53478191-53491588 IMH;X:53478192-53491585 gnomAD-SV_v2.1_DEL_X_186301;chrX:53481193-53482847 dbVar;chrX:53485000-53555000 dbVar;X:53496417-53499888 1000g;chrX:53504537-53504627 dbVar;chrX:53513549-53520809 dbVar;chrX:53520678-53520750 dbVar;chrX:53561861-53562148 dbVar;chrX:53684764-53684885 dbVar;X:53772345-53778301 1000g;X:53772358-53778316 IMH;chrX:53776500-53781600 dbVar;chrX:53781934-53808203 dbVar;X:53792164-53792218 1000g... chrX:53256067-53256435 dbVar;chrX:53318309-53320696 dbVar;X:53319072-53320350 1000g;chrX:53437409-53437467 dbVar;chrX:53478093-53491686 dbVar;X:53478160-53491616 DDD:57601;chrX:53478192-53491585 dbVar;chrX:53478817-53479165 dbVar;X:53481194-53482847 1000g;chrX:53496416-53499888 dbVar;chrX:53496418-53499890 dbVar;chrX:53513441-53520776 dbVar;chrX:53513576-53513640 dbVar;chrX:53557344-53558918 dbVar;chrX:53680158-53680957 dbVar;chrX:53772344-53778301 dbVar;X:53772358-53778316 DDD:57606;chrX:53774645-53775785 dbVar;X:53776864-53777371 nsv515204;chrX:53787125-53795624 dbVar... 0.420 0.295 X:53250479-53250649 MIRc X:53855851-53856180;X:53856303-53856465 L1MA7;L1MA7 3 75.6 0.807946261414963 9.03470791370173 314690;300522;300040;300256;300697 yes 0 1.0000e+00 1.0000e+00 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_gain_source, +1.00);2H-2 (HSD17B10/HUWE1/IQSEC2/SMC1A, +0.00);2J (KDM5C, +0.00);3A (9 genes, +0.00);5F (+0.00) 5 +X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA full p11.22 KDM5C;IQSEC2;SMC1A;MIR6857;RIBC1;HSD17B10;HUWE1;MIR98;MIRLET7F2 MIR6894 PHF8 9 ACADM (morbid/RE=mTL_miRNA);ACTA1 (morbid/RE=mTL_miRNA);ACVR2B (morbid/RE=mTL_miRNA);ADA (morbid/RE=mTL_miRNA);ADGRE2 (morbid/RE=mTL_miRNA);ADGRG1 (morbid/RE=mTL_miRNA);ADH5 (morbid/RE=mTL_miRNA);AGO1 (morbid/RE=mTL_miRNA);AGPS (morbid/RE=mTL_miRNA);AK2 (morbid/RE=mTL_miRNA);ALAS2 (morbid/RE=ABC_enhancer);ALDH1A3 (morbid/RE=mTL_miRNA);ALDH7A1 (morbid/RE=mTL_miRNA);ALG3 (morbid/RE=mTL_miRNA);ALG8 (morbid/RE=mTL_miRNA);AMD1 (morbid/RE=mTL_miRNA);AMMECR1 (morbid/RE=mTL_miRNA);ANKRD11 (HI=3/morbid/RE=mTL_miRNA);ANTXR2 (morbid/RE=mTL_miRNA);AP1S1 (morbid/RE=mTL_miRNA);ARCN1 (HI=3/morbid/RE=mTL_miRNA);ARHGEF18 (morbid/RE=mTL_miRNA);ARID1A (HI=3/morbid/RE=mTL_miRNA);ARID1B (HI=3/morbid/RE=mTL_miRNA);ATL1 (morbid/RE=mTL_miRNA);ATP13A3 (morbid/RE=mTL_miRNA);ATP2A2 (morbid/RE=mTL_miRNA);ATP7B (morbid/RE=mTL_miRNA);ATR (morbid/RE=mTL_miRNA);ATXN2 (morbid/RE=mTL_miRNA);B4GAT1 (morbid/RE=mTL_miRNA);BACH1 (morbid/RE=mTL_miRNA);BCL11A (HI=3/morbid/RE=mTL_miRNA);BCL2 (morbid/RE=mTL_miRNA);BCOR (HI=3/morbid/RE=mTL_miRNA);BNC2 (morbid/RE=mTL_miRNA);C12orf4 (morbid/RE=mTL_miRNA);C3 (morbid/RE=mTL_miRNA);CACNA1C (morbid/RE=mTL_miRNA);CACNB2 (morbid/RE=mTL_miRNA);CALM1 (morbid/RE=mTL_miRNA);CANT1 (morbid/RE=mTL_miRNA);CAPN15 (morbid/RE=mTL_miRNA);CBL (morbid/RE=mTL_miRNA);CCND2 (morbid/RE=mTL_miRNA);CCNF (morbid/RE=mTL_miRNA);CD59 (morbid/RE=mTL_miRNA);CDKN1B (HI=3/morbid/RE=mTL_miRNA);CEP120 (morbid/RE=mTL_miRNA);CEP135 (morbid/RE=mTL_miRNA)... Xp11.22 region (includes HUWE1) TS3:ISCA-46299;dbVar:nssv15147941;dbVar:nssv15147942;dbVar:nssv15161312;nssv15161529;dbVar:nssv15161768 X:53276031-53298472;X:53283514-53325284;X:53363457-53793054;X:53559549-53622547;X:53559733-53790650 Cornelia de Lange syndrome 2, 300590 (3) XLD;Developmental and epileptic encephalopathy 85, with or without midline brain defects, 301044 (3) XLD;HSD10 mitochondrial disease, 300438 (3) XLD;Intellectual developmental disorder, XL 1, 309530 (3) XLD;Intellectual developmental disorder, XL syndromic, Turner type, 309590 (3) XL;Intellectual_disability,_X-linked_1 CLN:1065452;HI3:IQSEC2;HI3:SMC1A;dbVar:nssv15769470;dbVar:nssv16212358;dbVar:nssv16215156;dbVar:nssv17171530;dbVar:nssv17171900;dbVar:nssv17172048;dbVar:nssv17172462;dbVar:nssv17970926;dbVar:nssv17971164;dbVar:nssv18788536;dbVar:nssv18791522;morbid:HSD17B10;morbid:HUWE1;morbid:IQSEC2;morbid:SMC1A X:53253923-53254071;X:53262059-53350522;X:53263402-53280376;X:53264077-53264258;X:53264078-53264257;X:53270947-53271111;X:53279442-53280376;X:53295510-53310766;X:53348888-53349736;X:53401070-53449677;X:53401071-53449677;X:53430479-53432101;X:53430479-53442138;X:53435974-53442138;X:53448826-53449569;X:53449432-53449549;X:53458209-53461317;X:53559057-53713664 233 Abnormal_heart_valve_morphology;Congenital_muscular_hypertrophy-cerebral_syndrome;Cornelia_de_Lange_syndrome_1;Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects;Epileptic_encephalopathy;Global_developmental_delay;HSD10_mitochondrial_disease;Hirsutism;Hypertonia;Inborn_genetic_diseases;Intellectual_disability;Intellectual_disability,_X-linked_1;Intellectual_disability,_X-linked_syndromic,_Turner_type;Microcephaly;Neurodevelopmental_delay;Paraplegia-intellectual_disability-hyperkeratosis_syndrome;Progressive_sensorineural_hearing_impairment;SMC1A-related_cohesinopathy;See_cases;Severe_intellectual_deficiency;Syndromic_X-linked_intellectual_disability_Claes-Jensen_type;Undetermined_early-onset_epileptic_encephalopathy IMH X:46769178-84009828 0.1280 chrX:53351112-53351177 dbVar;chrX:53471700-53477100 dbVar;chrX:53592722-53593564 dbVar;chrX:53727000-53788500 dbVar;chrX:53787836-53829639 dbVar;chrX:53803200-53918400 dbVar; chrX:53332800-53414100 dbVar;chrX:53470041-53488385 dbVar;chrX:53552999-53623500 dbVar;chrX:53666546-53667044 dbVar;chrX:53775999-53852000 dbVar;chrX:53800000-53808000 dbVar;chrX:53820721-53862221 dbVar chrX:53318184-53318333 dbVar;chrX:53319071-53320350 dbVar;chrX:53414007-53419436 dbVar;chrX:53475340-53498420 dbVar;X:53478094-53491686 1000g;X:53478191-53491588 IMH;X:53478192-53491585 gnomAD-SV_v2.1_DEL_X_186301;chrX:53481193-53482847 dbVar;chrX:53485000-53555000 dbVar;X:53496417-53499888 1000g;chrX:53504537-53504627 dbVar;chrX:53513549-53520809 dbVar;chrX:53520678-53520750 dbVar;chrX:53561861-53562148 dbVar;chrX:53684764-53684885 dbVar;X:53772345-53778301 1000g;X:53772358-53778316 IMH;chrX:53776500-53781600 dbVar;chrX:53781934-53808203 dbVar;X:53792164-53792218 1000g... chrX:53256067-53256435 dbVar;chrX:53318309-53320696 dbVar;X:53319072-53320350 1000g;chrX:53437409-53437467 dbVar;chrX:53478093-53491686 dbVar;X:53478160-53491616 DDD:57601;chrX:53478192-53491585 dbVar;chrX:53478817-53479165 dbVar;X:53481194-53482847 1000g;chrX:53496416-53499888 dbVar;chrX:53496418-53499890 dbVar;chrX:53513441-53520776 dbVar;chrX:53513576-53513640 dbVar;chrX:53557344-53558918 dbVar;chrX:53680158-53680957 dbVar;chrX:53772344-53778301 dbVar;X:53772358-53778316 DDD:57606;chrX:53774645-53775785 dbVar;X:53776864-53777371 nsv515204;chrX:53787125-53795624 dbVar... 0.420 0.295 X:53250479-53250649 MIRc X:53855851-53856180;X:53856303-53856465 L1MA7;L1MA7 3 75.6 0.807946261414963 9.03470791370173 314690;300522;300040;300256;300697 yes 0 1.0000e+00 1.0000e+00 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_gain_source, +1.00);2H-2 (HSD17B10/HUWE1/IQSEC2/SMC1A, +0.00);2J (KDM5C, +0.00);3A (9 genes, +0.00);5F (+0.00) 5 X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA split p11.22 KDM5C NM_001353979 2 53205458 53254389 3736 150 3 no 26 txStart-intron1 5'UTR-CDS 555 3' 53250653 53254389 dbVar:nssv16215156 X:53253923-53254071 5 Inborn_genetic_diseases;Syndromic_X-linked_intellectual_disability_Claes-Jensen_type IMH X:46769178-84009828 0.1280 3 0 11.71 -1.20041549946446 5.44441583895939 X-linked syndromic intellectual disability;syndromic X-linked intellectual disability Claes-Jensen type XL;XLR Definitive;Strong;Supportive 10982473;15586325;15586325[PMID];16538222;18203167;18697827;19826449;21575681;22326837;25666439;32279304 8242 314690 Intellectual developmental disorder, XL syndromic, Claes-Jensen type, 300534 (3) XLR XLR yes 0 1.0000e+00 9.9784e-01 full=5 X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA split p11.22 IQSEC2 NM_001111125 3 53262057 53350548 88491 4467 100 no 15 txStart-txEnd 5'UTR-3'UTR 53262057 53350548 dbVar:nssv15147941;dbVar:nssv15147942 X:53276031-53298472;X:53283514-53325284 Intellectual developmental disorder, XL 1, 309530 (3) XLD;Intellectual_disability,_X-linked_1 CLN:1065452;HI3:IQSEC2;dbVar:nssv17171900;dbVar:nssv17172048;dbVar:nssv17172462;dbVar:nssv17970926;dbVar:nssv18791522;morbid:IQSEC2 X:53262059-53350522;X:53263402-53280376;X:53264077-53264258;X:53264078-53264257;X:53270947-53271111;X:53279442-53280376;X:53295510-53310766;X:53348888-53349736 123 Inborn_genetic_diseases;Intellectual_disability;Intellectual_disability,_X-linked_1;Neurodevelopmental_delay;Paraplegia-intellectual_disability-hyperkeratosis_syndrome;See_cases;Severe_intellectual_deficiency;Undetermined_early-onset_epileptic_encephalopathy IMH X:46769178-84009828 0.1280 3 0 26.16 -0.257046228208263 4.55717824142058 X-linked complex neurodevelopmental disorder;intellectual disability, X-linked 1;non-syndromic X-linked intellectual disability;severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome XL;XLD Definitive;Strong;Supportive 20473311;20473311[PMID];21686261;23674175;23674175[PMID];24306141;25167861;26544041;26733290;26793055;27665735;28295038;28815955;29026562;300522;30206421;30666632;31415821;31490346;31829726 23096 300522 Intellectual developmental disorder, XL 1, 309530 (3) XLD XLD yes 0 9.9998e-01 9.7539e-01 full=5 X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA split p11.22 SMC1A NM_006306 4 53401069 53449603 48534 3702 100 no 25 txStart-txEnd 5'UTR-3'UTR 53401069 53449603 dbVar:nssv15769470;dbVar:nssv16212358;dbVar:nssv17171530;dbVar:nssv17971164;dbVar:nssv18788536 X:53430479-53432101;X:53430479-53442138;X:53435974-53442138;X:53448826-53449569;X:53449432-53449549 90 Abnormal_heart_valve_morphology;Congenital_muscular_hypertrophy-cerebral_syndrome;Cornelia_de_Lange_syndrome_1;Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects;Epileptic_encephalopathy;Global_developmental_delay;Hirsutism;Hypertonia;Inborn_genetic_diseases;Intellectual_disability;Microcephaly;Progressive_sensorineural_hearing_impairment;SMC1A-related_cohesinopathy;See_cases IMH X:46769178-84009828 0.1280 3 0 14.23 -0.112682658348456 6.67845368195785 Cornelia de Lange syndrome;Cornelia de Lange syndrome 2;X-linked complex neurodevelopmental disorder;atypical Rett syndrome;developmental and epileptic encephalopathy, 85, with or without midline brain defects AD;XL;XLD Definitive;Strong;Supportive 16604071;17273969;20301283[PMID];20635401;22106055;24124034;26354354;26358754;26386245;27334371;28102598;28166369;28548707;31334757;32222533[PMID] 8243 300040 Cornelia de Lange syndrome 2, 300590 (3) XLD;Developmental and epileptic encephalopathy 85, with or without midline brain defects, 301044 (3) XLD XLD yes 0 1.0000e+00 9.9999e-01 full=5 @@ -369,11 +336,11 @@ X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA spl X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA split p11.22 HUWE1 NM_031407 7 53559056 53713664 154608 13125 100 no 84 txStart-txEnd 5'UTR-3'UTR 53559056 53713664 dbVar:nssv15161768 X:53559549-53622547 Intellectual developmental disorder, XL syndromic, Turner type, 309590 (3) XL morbid:HUWE1 X:53559057-53713664 11 Global_developmental_delay;Inborn_genetic_diseases;Intellectual_disability;Intellectual_disability,_X-linked_syndromic,_Turner_type;Neurodevelopmental_delay IMH X:46769178-84009828 0.1280 0 0 10.58 -1.65771922174252 9.03470791370173 intellectual disability, X-linked syndromic, Turner type;non-syndromic X-linked intellectual disability;syndromic intellectual disability AD;XL;XLD Definitive;Strong;Supportive 18252223;19377476;1968668;20231446;22840365;23721686;24303071;25644381;25985138;27418510;27615324;29180823;29180823[PMID] 10075 300697 Intellectual developmental disorder, XL syndromic, Turner type, 309590 (3) XL XL yes 0 1.0000e+00 1.0000e+00 full=5 X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA split p11.22 MIR98 NR_029513 1 53583183 53583302 119 0 0 no 1 txStart-txEnd UTR 53583183 53583302 dbVar chrX:53552999-53623500 0.01 IMH X:46769178-84009828 0.1280 407054 full=5 X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA split p11.22 MIRLET7F2 NR_029484 1 53584152 53584235 83 0 0 no 1 txStart-txEnd UTR 53584152 53584235 dbVar chrX:53552999-53623500 0.01 IMH X:46769178-84009828 0.1280 406889 full=5 -11_66287089_66288847_DEL_1 11 66287089 66288847 -1758 DEL BBS1 internal frameshift Pathogenic NA full q13.2 BBS1;ZDHHC24 DPP3 ACTN3 2 BANF1 (morbid/RE=EA_enhancer);C11orf80 (morbid/RE=EA_enhancer);CATSPER1 (morbid/RE=EA_enhancer);CTSF (morbid/RE=EA_enhancer);FIBP (morbid/RE=EA_enhancer);KLC2 (morbid/RE=EA_enhancer);PACS1 (morbid/RE=EA_enhancer);PC (morbid/RE=EA_enhancer);SART1 (morbid/RE=EA_enhancer);SF3B2 (morbid/RE=EA_enhancer);SPTBN2 (morbid/RE=EA_enhancer);TMEM151A (morbid/RE=EA_enhancer) dbVar:nssv15171978;dbVar:nssv15158476;dbVar:nssv15150306;nssv15150623;dbVar:nssv17976763;dbVar:nssv15150659;dbVar:nssv15605814;dbVar:nssv15146474;dbVar:nssv17973682 11:70865-134938470;11:198511-134934063;11:230617-134938470;11:32799482-134938470;11:64501920-67129258;11:65138977-67574402;11:65960974-67658241;11:66281868-66288857 0.00;0.00;0.00;0.00;0.07;0.07;0.10;25.16 Bardet-Biedl syndrome 1, 209900 (3) Digenic recessive,AR dbVar:nssv16867095;dbVar:nssv15148225;dbVar:nssv15129970;dbVar:nssv18792809;morbid:BBS1;dbVar:nssv16214536;dbVar:nssv17171795;dbVar:nssv16212285;dbVar:nssv17976607;dbVar:nssv17974991;dbVar:nssv17172605;dbVar:nssv16212781;dbVar:nssv18787680;dbVar:nssv15128612;dbVar:nssv17172606 11:11835570-118373112;11:65508903-67473140;11:66274841-66292574;11:66274871-66292647;11:66278106-66301069;11:66278112-66291373;11:66278112-66299528;11:66278122-66291682;11:66278712-66293593;11:66283002-66287229;11:66283155-66287229;11:66287079-66288857;11:66287079-66291105;11:66288384-66293649;11:66288722-66293683 0.00;0.09;9.92;9.89;7.66;13.26;8.21;12.97;11.82;3.33;3.46;98.88;43.68;8.81;2.54 11 BBS1-related_condition;Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_1;Retinal_dystrophy IMH 11:1642920-71249653;11:49233128-89368291;11:49425032-89029881;11:49425381-89029675;11:49580506-88798755;11:49652145-88728247;11:50025478-108975588 0.4320 chr11:66272212-66288041 dbVar 0.565 0.545 67.28 -0.648300458519823 0.663432885116562 0.155145712015149 0.635599914039232 1.04727080312339 209901 yes 5 4.2080e-04 6.1403e-03 0.9 1A (cf Gene_count, RE_gene, +0.00);2E-1 (BBS1, +0.90);3A (2 genes, +0.00);5F (+0.00) 4 -11_66287089_66288847_DEL_1 11 66287089 66288847 -1758 DEL BBS1 internal frameshift Pathogenic NA split q13.2 BBS1 NM_024649 5 66278105 66301069 1759 238 13 yes 17 exon8-intron9 CDS 0 5' 66287088 66288847 11 BBS1-related_condition;Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_1;Retinal_dystrophy IMH 11:1642920-71249653;11:49233128-89368291;11:49425032-89029881;11:49425381-89029675;11:49580506-88798755;11:49652145-88728247;11:50025478-108975588 0.4320 40.7 -0.648300458519823 0.663432885116562 0.155145712015149 0.0819191978639822 0.0377121632347663 Bardet-Biedl syndrome;Bardet-Biedl syndrome 1 AR Definitive;Strong;Supportive 10577921;10577922;12118255;12524598;12837689;18032602;20177705;20301537[PMID];20498079;23143442 582 209901 Bardet-Biedl syndrome 1, 209900 (3) Digenic recessive,AR Digenic recessive,AR yes 5 3.4063e-12 1.7787e-07 full=4 +11_66287089_66288847_DEL_1 11 66287089 66288847 -1758 DEL BBS1 internal frameshift Pathogenic NA full q13.2 BBS1;ZDHHC24 DPP3 ACTN3 2 BANF1 (morbid/RE=EA_enhancer);C11orf80 (morbid/RE=EA_enhancer);CATSPER1 (morbid/RE=EA_enhancer);CTSF (morbid/RE=EA_enhancer);FIBP (morbid/RE=EA_enhancer);KLC2 (morbid/RE=EA_enhancer);PACS1 (morbid/RE=EA_enhancer);PC (morbid/RE=EA_enhancer);SF3B2 (morbid/RE=EA_enhancer);SPTBN2 (morbid/RE=EA_enhancer);TMEM151A (morbid/RE=EA_enhancer) dbVar:nssv15171978;dbVar:nssv15158476;dbVar:nssv15150306;nssv15150623;dbVar:nssv17976763;dbVar:nssv15150659;dbVar:nssv15605814;dbVar:nssv15146474;dbVar:nssv17973682 11:70865-134938470;11:198511-134934063;11:230617-134938470;11:32799482-134938470;11:64501920-67129258;11:65138977-67574402;11:65960974-67658241;11:66281868-66288857 0.00;0.00;0.00;0.00;0.07;0.07;0.10;25.16 Bardet-Biedl syndrome 1, 209900 (3) Digenic recessive,AR dbVar:nssv16867095;dbVar:nssv15148225;dbVar:nssv15129970;dbVar:nssv18792809;morbid:BBS1;dbVar:nssv16214536;dbVar:nssv17171795;dbVar:nssv16212285;dbVar:nssv17976607;dbVar:nssv17974991;dbVar:nssv17172605;dbVar:nssv16212781;dbVar:nssv18787680;dbVar:nssv15128612;dbVar:nssv17172606 11:11835570-118373112;11:65508903-67473140;11:66274841-66292574;11:66274871-66292647;11:66278106-66301069;11:66278112-66291373;11:66278112-66299528;11:66278122-66291682;11:66278712-66293593;11:66283002-66287229;11:66283155-66287229;11:66287079-66288857;11:66287079-66291105;11:66288384-66293649;11:66288722-66293683 0.00;0.09;9.92;9.89;7.66;13.26;8.21;12.97;11.82;3.33;3.46;98.88;43.68;8.81;2.54 11 BBS1-related_condition;Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_1;Retinal_dystrophy IMH 11:1642920-71249653;11:49233128-89368291;11:49425032-89029881;11:49425381-89029675;11:49580506-88798755;11:49652145-88728247;11:50025478-108975588 0.4320 chr11:66272212-66288041 dbVar 0.565 0.545 67.28 -0.648300458519823 0.663432885116562 0.155145712015149 0.635599914039232 1.04727080312339 209901 yes 5 4.2080e-04 6.1403e-03 0.9 1A (cf Gene_count, RE_gene, +0.00);2E-1 (BBS1, +0.90);3A (2 genes, +0.00);5F (+0.00) 4 +11_66287089_66288847_DEL_1 11 66287089 66288847 -1758 DEL BBS1 internal frameshift Pathogenic NA split q13.2 BBS1 NM_024649 5 66278105 66301069 1759 238 13 yes 17 exon8-intron9 CDS 0 5' 66287088 66288847 11 BBS1-related_condition;Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_1;Retinal_dystrophy IMH 11:1642920-71249653;11:49233128-89368291;11:49425032-89029881;11:49425381-89029675;11:49580506-88798755;11:49652145-88728247;11:50025478-108975588 0.4320 40.7 -0.648300458519823 0.663432885116562 0.155145712015149 0.0819191978639822 0.0377121632347663 Bardet-Biedl syndrome;Bardet-Biedl syndrome 1;ciliopathy AR Definitive;Strong;Supportive 10577921;10577922;12118255;12524598;12837689;18032602;20177705;20301537[PMID];20498079;23143442 582 209901 Bardet-Biedl syndrome 1, 209900 (3) Digenic recessive,AR Digenic recessive,AR yes 5 3.4063e-12 1.7787e-07 full=4 11_66287089_66288847_DEL_1 11 66287089 66288847 -1758 DEL BBS1 internal frameshift Pathogenic NA split q13.2 ZDHHC24 NM_001348571 2 66288095 66313519 752 0 0 no 5 exon5-txEnd 3'UTR 90 3' 66288095 66288847 4 BBS1-related_condition;Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_1;Retinal_dystrophy IMH 11:1642920-71249653;11:49233128-89368291;11:49425032-89029881;11:49425381-89029675;11:49580506-88798755;11:49652145-88728247;11:50025478-108975588 0.4320 67.28 -1.23986898178133 0.616417349113344 -0.188374414893838 0.635599914039232 1.04727080312339 254359 7 4.2080e-04 6.1403e-03 full=4 7_33397468_33397607_DEL_1 7 33397468 33397607 -139 DEL BBS9 inframe Pathogenic NA full p14.3 BBS9 RP9 FLJ20712 1 dbVar:nssv15777247;dbVar:nssv15168013;dbVar:nssv15161666;nssv15161679;dbVar:nssv15168014;dbVar:nssv15161745;dbVar:nssv15161726;dbVar:nssv17970196;dbVar:nssv15161869;dbVar:nssv15161632;dbVar:nssv17970205;dbVar:nssv15133397;dbVar:nssv15154527;dbVar:nssv15146465 7:10366-159119707;7:10705-159122532;7:43362-159119707;7:44936-159126310;7:54186-37129317;7:54186-41915483;7:10745751-35305167;7:11048841-52863626;7:11562625-36395416;7:27507833-39072473;7:30460550-34600277;7:30463887-43470805;7:33367925-61831899 0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00 Bardet-Biedl syndrome 9, 615986 (3) AR dbVar:nssv15161318;dbVar:nssv17976840;dbVar:nssv18329275;dbVar:nssv15138559;dbVar:nssv15147510;dbVar:nssv15148432;morbid:BBS9;dbVar:nssv17971381;dbVar:nssv18790316;dbVar:nssv18790317 7:54186-159075079;7:25451741-33864069;7:27133787-34466477;7:30977986-33440608;7:32718004-41084581;7:32911004-44576005;7:33169176-33675379;7:33296829-33427776;7:33376034-33427776;7:33388661-33397627 0.00;0.00;0.00;0.01;0.00;0.00;0.03;0.11;0.27;1.56 1 Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_9 dbVar chr7:32726588-35070337 0.01 IMH 7:23891013-65526751;7:33013222-55782515 0.3810 chr7:32726588-35070337 dbVar 0.325 0.370 17.13 -2.43637392050626 -2.53125239294469 -2.47162789907313 -0.989035894351638 -1.15018109964609 607968 yes 4 4.2117e-17 6.3752e-10 0.9 1A (cf Gene_count, RE_gene, +0.00);2E-1 (BBS9, +0.90);3A (1 gene, +0.00);5F (+0.00) 4 -7_33397468_33397607_DEL_1 7 33397468 33397607 -139 DEL BBS9 inframe Pathogenic NA split p14.3 BBS9 NM_001348036 1 33168896 33645680 140 140 5 yes 23 exon16-intron16 CDS 0 5' 33397467 33397607 1 Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_9 dbVar chr7:32726588-35070337 0.01 IMH 7:23891013-65526751;7:33013222-55782515 0.3810 17.13 -2.43637392050626 -2.53125239294469 -2.47162789907313 -0.989035894351638 -1.15018109964609 Bardet-Biedl syndrome;Bardet-Biedl syndrome 9 AR Definitive;Strong;Supportive 16380913;20177705;20301537[PMID];21209035;22353939;250490;251248;268436;282550 27241 607968 Bardet-Biedl syndrome 9, 615986 (3) AR AR yes 4 4.2117e-17 6.3752e-10 full=4 +7_33397468_33397607_DEL_1 7 33397468 33397607 -139 DEL BBS9 inframe Pathogenic NA split p14.3 BBS9 NM_001348036 1 33168896 33645680 140 140 5 yes 23 exon16-intron16 CDS 0 5' 33397467 33397607 1 Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_9 dbVar chr7:32726588-35070337 0.01 IMH 7:23891013-65526751;7:33013222-55782515 0.3810 17.13 -2.43637392050626 -2.53125239294469 -2.47162789907313 -0.989035894351638 -1.15018109964609 Bardet-Biedl syndrome;Bardet-Biedl syndrome 9;ciliopathy AR Definitive;Strong;Supportive 16380913;20177705;20301537[PMID];21209035;22353939;250490;251248;268436;282550 27241 607968 Bardet-Biedl syndrome 9, 615986 (3) AR AR yes 4 4.2117e-17 6.3752e-10 full=4 12_63935482_64130626_DUP_1 12 63935482 64130626 195144 DUP DPY19L2 (both DEL and DUP LCR mediated, precise breakpoints) Pathogenic NA full q14.2 DPY19L2 AVPR1A RXYLT1 1 RXYLT1 (morbid/RE=GH_enhancer);TBK1 (morbid/RE=EA_enhancer) Spermatogenic failure 9, 613958 (3) AR dbVar:nssv15119764;dbVar:nssv16213932;morbid:DPY19L2 12:63952693-64062273;12:63952694-64062354;12:63989747-63989817 dbVar:nssv15161620;dbVar:nssv15161414;nssv15161422;dbVar:nssv15171852;dbVar:nssv15161798;dbVar:nssv15171855 12:2-133851895;12:173788-133777902;12:191620-133777645;12:282466-133773393;12:621221-133779118 0.15;0.15;0.15;0.15;0.15 dbVar:nssv15136921 12:61300933-66961857 3.45 1 Spermatogenic_failure_9 IMH 12:11501488-96031049;12:40933234-113477160 0.1070 chr12:63936386-64131550 dbVar;chr12:63939158-64117235 dbVar;12:63939159-64117235 esv3629757;chr12:63944788-63947354 dbVar;chr12:63965589-63975135 dbVar;chr12:63988950-64000500 dbVar;chr12:64010193-64011854 dbVar;chr12:64011854-64015265 dbVar;12:64020291-64020367 DDD:38896;12:64069043-64136500 dgv280e214;chr12:64077066-64077827 dbVar;chr12:64078873-64107227 dbVar;chr12:64117634-64120295 dbVar;chr12:64129133-64134963 dbVar;chr12:63936386-64131550 dbVar;chr12:63939158-64117235 dbVar;12:63939159-64117235 esv3629757;chr12:63944788-63947354 dbVar;chr12:63965589-63975135 dbVar;chr12:63988950-64000500 dbVar... chr12:63935000-63948000 dbVar;12:63936386-64131550 gnomAD-SV_v2.1_DUP_12_34997;12:63939159-64117235 1000g;12:63940549-64135811 DDD:38888;chr12:63950451-64144961 dbVar;chr12:63965589-64010193 dbVar;chr12:63998600-64077000 dbVar;chr12:64010193-64015265 dbVar;chr12:64011854-64021530 dbVar;chr12:64061735-64073704 dbVar;chr12:64073704-64076066 dbVar;chr12:64078873-64079823 dbVar;chr12:64089900-64096000 dbVar;chr12:64125000-64130000 dbVar;chr12:63935000-63948000 dbVar;12:63936386-64131550 gnomAD-SV_v2.1_DUP_12_34997;12:63939159-64117235 1000g;12:63940549-64135811 DDD:38888;chr12:63950451-64144961 dbVar;chr12:63965589-64010193 dbVar... chr12:63936000-63986000 dbVar;chr12:63946269-64141505 dbVar;chr12:63946732-63946956 dbVar;12:63946733-63946956 IMH;chr12:63959839-63959910 dbVar;12:64020291-64020367 DDD:38896;chr12:64069257-64069348 dbVar;chr12:64076528-64076585 dbVar;chr12:64116494-64116881 dbVar;chr12:63923277-64119251 dbVar;chr12:63939158-64117235 dbVar;12:63946730-63946956 esv2662353;12:63946732-63946956 gnomAD-SV_v2.1_DEL_12_129265;chr12:63950172-63950241 dbVar;chr12:64015848-64018740 dbVar;chr12:64065000-64130000 dbVar;chr12:64069869-64069961 dbVar;chr12:64103835-64106468 dbVar;chr12:64122000-64127000 dbVar chr12:63923277-64119251 dbVar;chr12:63939158-64117235 dbVar;12:63946730-63946956 esv2662353;12:63946732-63946956 gnomAD-SV_v2.1_DEL_12_129265;chr12:63950172-63950241 dbVar;chr12:64015848-64018740 dbVar;chr12:64065000-64130000 dbVar;chr12:64069869-64069961 dbVar;chr12:64103835-64106468 dbVar;chr12:64122000-64127000 dbVar;chr12:63936000-63986000 dbVar;chr12:63946269-64141505 dbVar;chr12:63946732-63946956 dbVar;12:63946733-63946956 IMH;chr12:63959839-63959910 dbVar;12:64020291-64020367 DDD:38896;chr12:64069257-64069348 dbVar;chr12:64076528-64076585 dbVar;chr12:64116494-64116881 dbVar 350981;2692928;1491350;1087307;2792491;2353750;2965163;1209828;1619448;1883558;2814116;1194770;2089432;31158;2419380;119292;287527;981327;1267803;1760195;174035;1054499;1054500;693309;1328263;1881832;2850280 loss;gain 0.530 0.430 12:63935369-63935656 AluSq2 12:64130409-64130696 AluSq2 12:63923419-63951619 12:64119249-64146247 81.13 1.02618176351368 1.66555804568279 613893 yes 4 1.0936e-13 7.0294e-05 0.0 1A (cf Gene_count, RE_gene, +0.00);2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00);2G (cf po_B_gain_someG_source, +0.00);2H-2 (DPY19L2, +0.00);3A (1 gene, +0.00);5F (+0.00) 3 12_63935482_64130626_DUP_1 12 63935482 64130626 195144 DUP DPY19L2 (both DEL and DUP LCR mediated, precise breakpoints) Pathogenic NA split q14.2 DPY19L2 NM_173812 5 63952692 64062273 109581 2277 100 no 22 txStart-txEnd 5'UTR-3'UTR 63952692 64062273 Spermatogenic failure 9, 613958 (3) AR dbVar:nssv16213932;morbid:DPY19L2 12:63952693-64062273;12:63989747-63989817 1 Spermatogenic_failure_9 1000g;DDD:38888;dbVar;esv3629757;gnomAD-SV_v2.1_DUP_12_34997 chr12:63936386-64131550;12:63936386-64131550;chr12:63939158-64117235;12:63939159-64117235;12:63939159-64117235;12:63940549-64135811;chr12:63950451-64144961 0.0257 dbVar chr12:63923277-64119251;chr12:63939158-64117235;chr12:63946269-64141505 0.01 IMH 12:11501488-96031049;12:40933234-113477160 0.1070 1267803;1760195;1054499;1054500 loss;gain 81.13 1.02618176351368 1.66555804568279 male infertility due to globozoospermia;spermatogenic failure 9 AR Strong;Supportive 17008355;21397063;21397063[PMID]_22571172[PMID];21397064;22627659;22653751;25755131;25780569 283417 613893 Spermatogenic failure 9, 613958 (3) AR AR yes 4 1.0936e-13 7.0294e-05 full=3 16_31955077_34702366_DUP_1 16 31955077 34702366 2747289 DUP Benign NA full p11.2-p11.1 LOC102723753;HERC2P4;TP53TG3D;LOC390705;LOC107987382;TP53TG3;SLC6A10P;TP53TG3C;LOC105369266;TP53TG3B;LOC107987386;ENPP7P13;MIR9901;CCNYL3;UBE2MP1;LOC112268173;LINC01566 ZNF267 FRG2DP 17 ARMC5 (morbid/RE=GH_promoter) dbVar:nssv15158812;dbVar:nssv15148703;dbVar:nssv15150639;nssv15151292;dbVar:nssv15158813;dbVar:nssv15158224;dbVar:nssv16216874;dbVar:nssv15126545;dbVar:nssv15133058;dbVar:nssv15126469;dbVar:nssv15150356 16:61452-90294632;16:69194-90274381;16:85882-90155062;16:88166-90163275;16:88166-90274695;16:5805002-34230001;16:24381954-33923059;16:30703234-35147508;16:31986099-90294753;16:34197493-64509054 3.04;3.05;3.05;3.05;3.05;8.00;20.63;61.82;4.66;1.67 dbVar:nssv15141243 16:28826163-34375007 43.61 IMH 16:24121264-80276578;16:29238285-88227116 0.4996 16:31749454-34012168 dgv50e203;chr16:31972000-31977000 dbVar;chr16:31988999-32093700 dbVar;16:31989000-32033000 gnomAD-SV_v2.1_DUP_16_42016;chr16:31998945-32000382 dbVar;chr16:32000382-32163177 dbVar;chr16:32020000-32026200 dbVar;16:32020000-32096000 TS40:ISCA-46491;16:32020000-32096000 gnomAD-SV_v2.1_DUP_16_42022;chr16:32042250-32083000 dbVar;chr16:32092602-32163177 dbVar;chr16:32127889-32379212 dbVar;chr16:32150000-32329000 dbVar;16:32193431-32193767 DDD:47069;16:32202950-32209100 gnomAD-SV_v2.1_DUP_16_42026;16:32232000-32237100 gnomAD-SV_v2.1_DUP_16_42027;chr16:32328771-32370968 dbVar;16:32328772-32370968 1000g;chr16:32328900-32377200 dbVar;chr16:32366481-32410672 dbVar... chr16:31669999-31991400 dbVar;chr16:31969000-31997000 dbVar;16:31985111-31985155 DDD:47053;chr16:31989000-32033000 dbVar;chr16:31998194-32020170 dbVar;chr16:32000382-32092602 dbVar;chr16:32008999-32020100 dbVar;16:32020000-32026200 gnomAD-SV_v2.1_DUP_16_42021;chr16:32020000-32096000 dbVar;chr16:32029000-32037000 dbVar;16:32055083-33851279 DDD:47058;16:32123333-33664028 DDD:47062;16:32129166-32904510 DDD:47063;chr16:32163177-32379212 dbVar;chr16:32202950-32209100 dbVar;chr16:32232000-32237100 dbVar;16:32257510-32714406 esv2421440;16:32328772-32370968 1000g;16:32328772-32370968 dgv504e214;16:32345385-33344188 IMH... chr16:31933999-31991400 dbVar;chr16:31986799-32041500 dbVar;chr16:31998194-32020170 dbVar;chr16:32036000-32041500 dbVar;16:32055083-33851279 DDD:47058;16:32129166-32904510 DDD:47063;chr16:32289883-32289979 dbVar;16:32298051-32812316 DDD:47074;chr16:32328771-32370968 dbVar;chr16:32366481-32410672 dbVar;chr16:32393247-32393542 dbVar;chr16:32473466-32473664 dbVar;16:32485788-32648832 DDD:47081;16:32489448-32622550 dgv4e224;chr16:32494596-32496820 dbVar;chr16:32511665-32511727 dbVar;16:32524651-32525229 IMH;16:32532282-32533735 IMH;16:32562331-32601372 IMH;chr16:32586298-32586783 dbVar... 16:31749454-34012168 dgv50e203;chr16:31971409-31971474 dbVar;chr16:31986800-31999150 dbVar;chr16:32010600-32020000 dbVar;16:32052946-32496748 DDD:47057;16:32123333-33664028 DDD:47062;16:32257510-32714406 esv2421440;chr16:32294372-32294452 dbVar;chr16:32312790-32313754 dbVar;16:32328772-32370968 1000g;chr16:32373626-32373758 dbVar;chr16:32418983-32469917 dbVar;chr16:32485126-32485204 dbVar;16:32486808-32486871 DDD:47084;chr16:32491490-32496732 dbVar;16:32511180-32878155 dgv819e212;16:32518848-32519371 IMH;16:32525918-32525974 IMH;16:32541493-32648861 DDD:47087;16:32562341-32600296 IMH... 867177;91567;353034;353631;846410;889780;602068;920215;656674;844820;928993;916990;882610;882781;913386;921568;602754;906717;909308;917780;926463;907306;918212;883393;881329;893721;893981;899737;917511;923245;924117;2606399;1093900;1094650;1192145;1453959;2693617;2151152;2692204;2913452;2253963;2648708;1487532;2616160;2182684;2494773;2639896;73921;926125;915894;606563;... gain;loss 0.225 0.335 16:31948879-31955047;16:31955090-31955836 L1PA3;L1M4c 94.39 1.56757328357025 2.11426077975333 9 7.5995e-03 6.4106e-01 0.0 1A (cf Gene_count, RE_gene, +0.00);2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00);2G (cf po_B_gain_someG_source, +0.00);3A (17 genes, +0.00);5F (+0.00) 3 @@ -402,6 +369,39 @@ X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA spl 5_723195_777000_DUP_1 5 723195 777000 53805 DUP Benign NA split p15.33 ZDHHC11B NM_001351303 2 710469 784844 53806 1058 94 yes 14 intron1-intron12 5'UTR-CDS 6214 3' 723194 777000 DDD:16279;DDD:16284;dbVar;dgv131e203 chr5:432151-919355;5:653582-875018;chr5:685856-850649;5:686604-840273;5:708603-865477 0.1231 DDD:16279;DDD:16284;dgv1000e199;dgv131e203 5:653582-875018;5:682475-788359;5:686604-840273;5:708603-865477 0.0497 IMH 5:238915-1591166;5:244073-1583559;5:244336-1583852;5:261961-1570436 0.2771 744527;685925;659292;744529;709867;697438;663622;778865;682015;665581;664429;653823;703782;663623;664430;663624;664431;654500;697439;673937;774010;654501;673938;673939 loss;gain 98.37 0.535222227518795 -0.0274451648003615 653082 8 3.6787e-13 4.3228e-02 full=3 7_38296177_38352444_DEL_1 7 38296177 38352444 -56267 DEL Benign NA full p14.1 TARP STARD3NL TRG-AS1 1 SFRP4 (morbid/RE=ABC_enhancer);VPS41 (morbid/RE=ABC_enhancer) dbVar:nssv15777247;dbVar:nssv15168013;dbVar:nssv15161666;nssv15161679;dbVar:nssv15168014;dbVar:nssv15161726;dbVar:nssv15161869;dbVar:nssv17970205;dbVar:nssv15154527;dbVar:nssv15146465;dbVar:nssv15166972 7:10366-159119707;7:10705-159122532;7:43362-159119707;7:44936-159126310;7:54186-41915483;7:11048841-52863626;7:27507833-39072473;7:30463887-43470805;7:33367925-61831899;7:37213109-40255122 0.04;0.04;0.04;0.04;0.13;0.13;0.49;0.43;0.20;1.85 dbVar:nssv15161318;dbVar:nssv15147510;dbVar:nssv15148432;dbVar:nssv15147453;dbVar:nssv15145850;dbVar:nssv15148950 7:54186-159075079;7:32718004-41084581;7:32911004-44576005;7:35500387-42053399;7:37343083-48700334;7:38217602-45343699 0.04;0.67;0.48;0.86;0.50;0.79 dgv1888e212 7:38286516-38394857 0.0100 IMH 7:23891013-65526751;7:33013222-55782515 0.3810 7:38286516-38394857 dgv1888e212;chr7:38288427-38299834 dbVar;chr7:38292243-38299454 dbVar;chr7:38292598-38299075 dbVar;chr7:38292954-38305344 dbVar;chr7:38296039-38299834 dbVar;chr7:38300094-38304944 dbVar;chr7:38300094-38309816 dbVar;chr7:38301678-38304944 dbVar;chr7:38304944-38313034 dbVar;chr7:38305344-38309816 dbVar;chr7:38315596-38318010 dbVar;chr7:38315847-38318271 dbVar;chr7:38316099-38318010 dbVar 7:38283523-38309532 DDD:23873;chr7:38288205-38309816 dbVar;chr7:38292243-38297557 dbVar;chr7:38292243-38300094 dbVar;chr7:38292954-38297557 dbVar;chr7:38296039-38299075 dbVar;chr7:38299075-38299834 dbVar;chr7:38300094-38305344 dbVar;chr7:38301678-38302623 dbVar;chr7:38302623-38304944 dbVar;chr7:38305144-38312727 dbVar;chr7:38315596-38316099 dbVar;chr7:38315771-38317054 dbVar;chr7:38315946-38318532 dbVar chr7:38309816-38312727 dbVar;chr7:38312421-38313034 dbVar;chr7:38318010-38318532 dbVar;chr7:38321639-38325867 dbVar;chr7:38325667-38325867 dbVar;chr7:38325667-38328166 dbVar;chr7:38331989-38335441 dbVar;chr7:38331989-38336295 dbVar;chr7:38348388-38349972 dbVar chr7:38295995-38331222 dbVar;chr7:38309816-38313034 dbVar;chr7:38315910-38331224 dbVar;chr7:38321639-38325667 dbVar;chr7:38321639-38326916 dbVar;chr7:38325667-38327016 dbVar;chr7:38325867-38328166 dbVar;chr7:38331989-38335610 dbVar;chr7:38335441-38335779 dbVar 0.365 0.320 7:38296252-38296527 AluSx 7:38284220-38298557 0.0 1A (cf Gene_count, RE_gene, +0.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);2G (cf po_B_loss_someG_source, +0.00);3A (1 gene, +0.00);5F (+0.00) 3 7_38296177_38352444_DEL_1 7 38296177 38352444 -56267 DEL Benign NA split p14.1 TARP NM_001003806 2 38299243 38313237 13994 336 100 no 4 txStart-txEnd 5'UTR-3'UTR 38299243 38313237 dgv1888e212 7:38286516-38394857 0.0100 dbVar chr7:38295995-38331222 0.01 IMH 7:23891013-65526751;7:33013222-55782515 0.3810 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA full p23.1 FAM66B;DEFB109B;USP17L1;USP17L4;ZNF705G;DEFB4B;DEFB103B;SPAG11B;DEFB104B;DEFB106B;DEFB105B;DEFB107B;PRR23D1;FAM90A7;FAM90A22;FAM90A23;FAM90A14;FAM90A18;FAM90A16;FAM90A8;FAM90A17;FAM90A19;FAM90A9;FAM90A10;PRR23D2;DEFB107A;DEFB105A;DEFB106A;DEFB104A;SPAG11A;DEFB103A;DEFB4A LINC00965 ZNF705B 32 MCPH1 (morbid/RE=ABC_enhancer+GH_promoter_enhancer) dbVar:nssv15169207;dbVar:nssv15128680;dbVar:nssv15161508;dbVar:nssv15161747;dbVar:nssv17976867;dbVar:nssv17957391;dbVar:nssv15154583;dbVar:nssv15161801;nssv15777239;nssv17976962;dbVar:nssv15154584;dbVar:nssv16206921;dbVar:nssv15154580;dbVar:nssv15161417;nssv15161657;dbVar:nssv15147671;dbVar:nssv15161846;dbVar:nssv15150473;dbVar:nssv15127651;dbVar:nssv15149098;dbVar:nssv15169210;dbVar:nssv15154582;dbVar:nssv15146537;dbVar:nssv15161807;dbVar:nssv15161553;dbVar:nssv15161105;dbVar:nssv15161095;dbVar:nssv15161561;dbVar:nssv15161078;dbVar:nssv15147455;dbVar:nssv16736635;dbVar:nssv15161269;dbVar:nssv15161748;dbVar:nssv15161749;dbVar:nssv15143576;dbVar:nssv15161775;dbVar:nssv15146180;dbVar:nssv15161087;dbVar:nssv15161068;dbVar:nssv15161792;dbVar:nssv15606063;dbVar:nssv15151542;dbVar:nssv15161084;dbVar:nssv16206931;dbVar:nssv15154577;dbVar:nssv15161089;dbVar:nssv15151538;dbVar:nssv15152254;dbVar:nssv18842054;dbVar:nssv15161540;dbVar:nssv15161727;dbVar:nssv15161764 8:10214-146293414;8:13939-146304022;8:46311-11879315;8:46311-30472220;8:158049-10348413;8:158049-11936107;8:158049-13974319;8:158049-146295771;8:158049-15423270;8:158049-8102819;8:158049-9750676;8:158050-146295771;8:158992-13304906;8:158992-146280828;8:158992-17536147;8:163683-46938942;8:164985-11860845;8:164985-146293414;8:168484-13147575;8:169854-10022996;8:176453-12556063;8:176453-12570496;8:176453-146294098;8:176453-16137655;8:176453-34349408;8:176453-37879246;8:176453-7838959;8:176815-43396776;8:191531-146274835;8:191531-146280020;8:191531-17536206;8:191531-22404983;8:191531-23055911;8:191531-7752586;8:191606-146280167;8:191606-24514484;8:191606-30948590;8:194618-13947374;8:1825201-24533193;8:6961184-12157391;8:6999220-11895232;8:6999220-11898980;8:6999220-38553064;8:6999220-8881836;8:7053187-11805960;8:7080282-12045269;8:7169491-12404062;8:7268820-12039974;8:7691902-12039974 0.40;0.40;4.94;1.92;5.73;4.96;4.23;0.40;3.83;7.35;6.09;0.40;4.44;0.40;3.36;1.25;4.99;0.40;4.50;5.93;4.72;4.71;0.40;3.66;1.71;1.55;7.62;1.35;0.40;0.40;3.37;2.63;2.55;7.71;0.40;2.40;1.90;4.25;2.57;11.24;11.93;11.92;1.85;31.03;12.29;11.76;11.16;10.16;1.42 dbVar:nssv15168702;dbVar:nssv15169206;dbVar:nssv18842057;dbVar:nssv17956019;dbVar:nssv15154581;dbVar:nssv18326425;dbVar:nssv15149861;dbVar:nssv15775686;dbVar:nssv17976739;dbVar:nssv16208166;dbVar:nssv15774257;dbVar:nssv15149509;dbVar:nssv18330306;dbVar:nssv18329623;dbVar:nssv16216869;dbVar:nssv15169209;dbVar:nssv15223191;dbVar:nssv15147275;dbVar:nssv15148964;dbVar:nssv15147296;dbVar:nssv15146181;nssv15146816;dbVar:nssv15606064;dbVar:nssv15146660;dbVar:nssv18841910;dbVar:nssv15161264;nssv15161582;dbVar:nssv15145917;dbVar:nssv15161283;dbVar:nssv15161284;dbVar:nssv15161070;dbVar:nssv15141976;dbVar:nssv15161050 8:10214-10197718;8:10214-8948469;8:10502-11142629;8:10502-7214947;8:158049-10939681;8:158049-11281408;8:158049-13309069;8:158049-14214722;8:158049-30187456;8:158049-9025197;8:158049-9393052;8:158049-9749574;8:158050-10965627;8:158050-18936715;8:161517-11516619;8:164985-10007227;8:176815-7753583;8:191531-10049105;8:191531-10315994;8:191531-10724642;8:191531-7752586;8:194618-7787444;8:360370-7334625;8:399894-23712417;8:2292236-27361796;8:3791728-11384448;8:7053187-12241152;8:7092360-12372324;8:7169491-12404062;8:7268820-11805960;8:7268820-11819316 5.73;6.53;5.25;0.63;5.42;5.25;4.44;4.16;1.95;6.59;6.32;6.09;5.40;3.11;5.14;5.93;7.71;5.93;5.77;5.55;7.71;7.69;2.37;2.51;2.33;7.69;11.26;11.06;11.16;10.68;10.65 DDD:26674;TS40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 8:6858816-8072303 esv2761169;8:6985776-7230992 DDD:26670;8:7035907-7428513 DDD:26675;8:7154889-7213289 DDD:26682;chr8:7159226-7201223 dbVar;8:7170611-7177489 nsv515099;chr8:7190000-7195000 dbVar;8:7201176-7392220 DDD:26689;chr8:7212582-7227421 dbVar;8:7212583-7227421 1000g;8:7212583-7227421 TS40:ISCA-46631;8:7241528-7403182 nsv515100;8:7250369-7832042 dgv6936n100;chr8:7355000-7365050 dbVar;8:7401394-7472190 DDD:26720;chr8:7404000-7437650 dbVar;chr8:7525167-7633135 dbVar;chr8:7525167-8097772 dbVar;chr8:7573000-7626700 dbVar;8:7632945-7856630 DDD:26727... chr8:6828277-7474073 dbVar;8:6959834-8600711 esv2764098;8:7024892-8031414 DDD:26674;8:7053187-8130689 TS40:ISCA-37472;chr8:7159226-7187516 dbVar;chr8:7159226-7474073 dbVar;chr8:7187516-7201223 dbVar;8:7190891-7190961 DDD:26685;chr8:7206400-7253000 dbVar;8:7212583-7227421 1000g;8:7212583-7227421 1000g;8:7212583-7227421 dgv1365e214;chr8:7243000-7356000 dbVar;8:7308244-7308706 DDD:26704;chr8:7365000-7404400 dbVar;chr8:7403133-7474073 dbVar;chr8:7424800-7474000 dbVar;chr8:7525167-7866528 dbVar;chr8:7532000-7545000 dbVar;chr8:7608000-7649500 dbVar... 8:6959834-8600711 esv2764098;8:7024892-8031414 DDD:26674;8:7053187-8130689 HI40:ISCA-37472;8:7154889-7213289 DDD:26682;8:7158202-7189800 DDD:26683;chr8:7179582-7191032 dbVar;8:7179583-7191032 esv3616115;8:7190891-7190961 DDD:26685;chr8:7201000-7206400 dbVar;chr8:7204184-7204308 dbVar;8:7212583-7227421 1000g;chr8:7221359-7221602 dbVar;8:7228000-7235000 gnomAD-SV_v2.1_DEL_8_89335;chr8:7286205-7286328 dbVar;chr8:7326402-7326559 dbVar;8:7355000-7363000 gnomAD-SV_v2.1_DEL_8_89340;8:7355294-7364762 1000g;8:7401394-7472190 DDD:26720;8:7402900-7419700 gnomAD-SV_v2.1_DEL_8_89341;8:7405950-7443050 gnomAD-SV_v2.1_DEL_8_89342... 8:6858816-8072303 esv2761169;8:6985776-7230992 DDD:26670;8:7035907-7428513 DDD:26675;chr8:7085462-7537934 dbVar;8:7158046-7189992 esv2675221;chr8:7175745-7175870 dbVar;8:7179583-7191032 1000g;chr8:7180382-7180743 dbVar;8:7190892-7196288 DDD:26687;8:7201000-7206400 gnomAD-SV_v2.1_DEL_8_89332;chr8:7212582-7227421 dbVar;8:7212583-7227421 esv3616116;chr8:7228000-7235000 dbVar;chr8:7276552-7277128 dbVar;8:7308244-7308706 DDD:26704;chr8:7355000-7363000 dbVar;chr8:7355293-7364762 dbVar;8:7355294-7364762 esv3616120;chr8:7402900-7419700 dbVar;chr8:7405950-7443050 dbVar... 674618;1021421;1021422;646653;1520679;1915732;3052323;2599287;832406;665154;653853;679166;678976;663306;700319;654990;679312;646920;863772;653647;649616;671308;658988;675704;1023557;678564;857770;745967;654991;676140;783310;824013;870858;820152;834536;871873;875246;654992;701040;665155;745968;682446;745969;702113;890458;732002;921361;909011;880183;1018294;925302;... loss;gain 0.260 0.330 8:7150797-7184572;8:7150797-7195814;8:7150797-7200543;8:7150798-7238459 8:7600001-7825413 8:7012601-8066200 High Signal Region 8:7012601-8066200 High Signal Region 99.72 2.14121257165536 2.19863945242443 8 4.2180e-01 5.1947e-01 -0.55 1A (cf Gene_count, RE_gene, +0.00);2F/4O (cf B_loss_source, -1.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);3B (32 genes, +0.45);5F (+0.00) 3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM66B NR_027423 2 7156265 7212885 43395 0 0 no 7 txStart-intron6 UTR 9797 3' 7169490 7212885 DDD:26670;DDD:26674;DDD:26675;DDD:26682;TS40:ISCA-37472;dbVar;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289;chr8:7159226-7474073 0.2355 DDD:26670;DDD:26674;DDD:26675;DDD:26682;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934;8:7154889-7213289 0.2237 100128890 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB109B NM_001037380 2 7170243 7177618 7375 264 100 no 2 txStart-txEnd 5'UTR-3'UTR 7170243 7177618 DDD:26670;DDD:26674;DDD:26675;DDD:26682;TS40:ISCA-37472;dbVar;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289;chr8:7159226-7187516;chr8:7159226-7201223;chr8:7159226-7474073 0.2355 DDD:26670;DDD:26674;DDD:26675;DDD:26682;DDD:26683;HI40:ISCA-37472;dbVar;esv2675221;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934;8:7154889-7213289;8:7158046-7189992;8:7158202-7189800 0.2237 641517 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 USP17L1 NM_001256873 1 7189908 7191501 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 7189908 7191501 DDD:26670;DDD:26674;DDD:26675;DDD:26682;TS40:ISCA-37472;dbVar;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289;chr8:7159226-7201223;chr8:7159226-7474073;chr8:7187516-7201223 0.2355 DDD:26670;DDD:26674;DDD:26675;DDD:26682;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934;8:7154889-7213289 0.2237 401447 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 USP17L4 NM_001256874 1 7194636 7196229 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 7194636 7196229 DDD:26670;DDD:26674;DDD:26675;DDD:26682;TS40:ISCA-37472;dbVar;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289;chr8:7159226-7201223;chr8:7159226-7474073;chr8:7187516-7201223 0.2355 DDD:26670;DDD:26674;DDD:26675;DDD:26682;DDD:26687;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934;8:7154889-7213289;8:7190892-7196288 0.2237 645402 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 ZNF705G NM_001164457 3 7213038 7243080 30042 903 100 no 7 txStart-txEnd 5'UTR-3'UTR 7213038 7243080 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;chr8:7206400-7253000 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 1023557;745967;654991;676140;745968;732002 loss;gain 91.1 -1.59751875296103 -3.97736276921453 100131980 9 1.6471e-08 4.2486e-09 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB4B NM_001205266 2 7272376 7274385 2009 195 100 no 2 txStart-txEnd 5'UTR-3'UTR 7272376 7274385 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;chr8:7243000-7356000;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 99.72 100289462 9 6.7977e-02 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB103B NM_018661 4 7286409 7287870 1461 204 100 no 2 txStart-txEnd 5'UTR-3'UTR 7286409 7287870 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;chr8:7243000-7356000;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 85.97 55894 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 SPAG11B NM_058201 4 7308124 7321064 12940 402 100 no 3 txStart-txEnd 5'UTR-3'UTR 7308124 7321064 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;chr8:7243000-7356000;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 89.4 2.14121257165536 1.8677219993927 10407 9 2.7751e-02 4.7238e-02 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB104B NM_001040702 1 7327829 7332604 4775 219 100 no 2 txStart-txEnd 5'UTR-3'UTR 7327829 7332604 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;chr8:7243000-7356000;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 95.66 503618 9 3.3176e-01 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB106B NM_001040704 2 7340025 7343922 3897 198 100 no 2 txStart-txEnd 5'UTR-3'UTR 7340025 7343922 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;chr8:7243000-7356000;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 93.29 503841 9 8.1151e-02 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB105B NM_001040703 3 7345200 7347115 1915 237 100 no 3 txStart-txEnd 5'UTR-3'UTR 7345200 7347115 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;chr8:7243000-7356000;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 90.95 504180 9 2.9184e-01 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB107B NM_001040705 2 7353432 7366833 13401 213 100 no 2 txStart-txEnd 5'UTR-3'UTR 7353432 7366833 DDD:26674;DDD:26675;DDD:26689;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7201176-7392220;8:7241528-7403182;8:7250369-7832042 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 603719;849088;921364 gain 91.71 503614 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 PRR23D1 NM_001282479 1 7397148 7399972 2824 840 100 no 4 txStart-txEnd 5'UTR-3'UTR 7397148 7399972 DDD:26674;DDD:26675;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098;nsv515100 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7241528-7403182;8:7250369-7832042;chr8:7365000-7404400 0.2355 DDD:26674;DDD:26675;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934 0.2237 100131608 8 4.2180e-01 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A7 NM_001397387 1 7414221 7417234 3013 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7414221 7417234 DDD:26674;DDD:26675;DDD:26720;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7159226-7474073;8:7250369-7832042;8:7401394-7472190;chr8:7403133-7474073;chr8:7404000-7437650 0.2355 DDD:26674;DDD:26675;DDD:26720;HI40:ISCA-37472;dbVar;esv2761169;esv2764098;gnomAD-SV_v2.1_DEL_8_89341;gnomAD-SV_v2.1_DEL_8_89342 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934;8:7401394-7472190;chr8:7402900-7419700;8:7402900-7419700;chr8:7405950-7443050;8:7405950-7443050 0.5803 441317 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A22 NM_001397382 1 7429516 7432528 3012 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7429516 7432528 DDD:26674;DDD:26720;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;chr8:7159226-7474073;8:7250369-7832042;8:7401394-7472190;chr8:7403133-7474073;chr8:7404000-7437650;chr8:7424800-7474000 0.2355 DDD:26674;DDD:26720;HI40:ISCA-37472;dbVar;esv2761169;esv2764098;gnomAD-SV_v2.1_DEL_8_89342 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;chr8:7085462-7537934;8:7401394-7472190;chr8:7405950-7443050;8:7405950-7443050 0.4842 645558 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A23 NM_001397380 1 7437165 7440175 3010 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7437165 7440175 DDD:26674;DDD:26720;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;chr8:7159226-7474073;8:7250369-7832042;8:7401394-7472190;chr8:7403133-7474073;chr8:7424800-7474000 0.2355 DDD:26674;DDD:26720;HI40:ISCA-37472;dbVar;esv2761169;esv2764098;gnomAD-SV_v2.1_DEL_8_89342 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;chr8:7085462-7537934;8:7401394-7472190;chr8:7405950-7443050;8:7405950-7443050 0.4842 645572 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A14 NM_001164452 1 7572964 7575975 3011 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7572964 7575975 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 645651 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A18 NM_001164451 1 7580612 7583623 3011 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7580612 7583623 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7573000-7626700 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441326 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A16 NM_001397396 1 7588260 7591271 3011 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7588260 7591271 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7573000-7626700 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441323 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A8 NM_001164450 1 7595908 7598918 3010 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7595908 7598918 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7573000-7626700 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441324 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A17 NM_001397391 1 7603555 7606566 3011 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7603555 7606566 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7573000-7626700 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 728746 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A19 NM_001164449 1 7611203 7614214 3011 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7611203 7614214 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7573000-7626700;chr8:7608000-7649500 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 728753 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A9 NM_001164448 1 7618851 7621862 3011 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7618851 7621862 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7573000-7626700;chr8:7608000-7649500 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441327 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 FAM90A10 NM_001164447 1 7626498 7629510 3012 1395 100 no 4 txStart-txEnd 5'UTR-3'UTR 7626498 7629510 DDD:26674;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7633135;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7608000-7649500 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441328 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 PRR23D2 NM_001282478 1 7636112 7638935 2823 840 100 no 4 txStart-txEnd 5'UTR-3'UTR 7636112 7638935 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;chr8:7608000-7649500;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 100133251 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB107A NM_001037668 1 7669241 7673238 3997 213 100 no 2 txStart-txEnd 5'UTR-3'UTR 7669241 7673238 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 682133 gain 92.48 245910 9 3.2633e-01 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB105A NM_152250 3 7678525 7681402 2877 237 100 no 3 txStart-txEnd 5'UTR-3'UTR 7678525 7681402 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 90.61 0.918523398770926 0.00809335391872301 245908 8 3.7719e-01 4.3625e-01 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB106A NM_152251 4 7682660 7686575 3915 198 100 no 2 txStart-txEnd 5'UTR-3'UTR 7682660 7686575 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 90.45 0.676417083229402 1.6332400949348 245909 9 8.5821e-03 4.0931e-01 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB104A NM_080389 3 7693957 7698764 4807 219 100 no 2 txStart-txEnd 5'UTR-3'UTR 7693957 7698764 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 96.98 1.33624136747443 2.19863945242443 140596 9 9.3748e-02 5.1947e-01 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 SPAG11A NM_001395484 1 7705529 7718465 12936 402 100 no 3 txStart-txEnd 5'UTR-3'UTR 7705529 7718465 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 97.15 0.140072348156658 0.903069021299127 653423 9 6.9645e-05 3.9012e-02 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB103A NM_001081551 4 7738913 7740185 1272 204 100 no 2 txStart-txEnd 5'UTR-3'UTR 7738913 7740185 DDD:26674;DDD:26727;DDD:26729;DDD:26742;DDD:26743;TS40:ISCA-37472;TS40:ISCA-46381;dbVar;dgv6936n100;esv2761169;esv2764098;gnomAD-SV_v2.1_DUP_8_23708 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839;8:7718891-7784263;8:7734213-7856702;8:7737000-7743100;chr8:7737000-7743100;8:7737000-7743100 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;HI40:ISCA-46380;dbVar;esv2761169;esv2764098;gnomAD-SV_v2.1_DEL_8_89353 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630;8:7736500-7764500;chr8:7736500-7764500;8:7736500-7764500 0.3262 93.4 414325 full=3 +8_7169491_7753583_DEL_1 8 7169491 7753583 -584092 DEL Benign NA split p23.1 DEFB4A NM_004942 4 7752198 7754238 1385 58 29 yes 2 txStart-intron1 5'UTR-CDS 412 3' 7752198 7753583 DDD:26674;DDD:26727;DDD:26729;DDD:26742;DDD:26743;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839;8:7718891-7784263;8:7734213-7856702 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;HI40:ISCA-46380;HI40:ISCA-46382;dbVar;esv2761169;esv2764098;gnomAD-SV_v2.1_DEL_8_89353;gnomAD-SV_v2.1_DEL_8_89355 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630;8:7736500-7764500;chr8:7736500-7764500;8:7736500-7764500;8:7745000-7754100;chr8:7745000-7754100;8:7745000-7754100 0.5182 97.87 1.12959151611996 0.758429673080804 1673 9 1.1637e-03 3.9981e-01 full=3 1_149041934_149209289_DEL_1 1 149041934 149209289 -167355 DEL Benign NA full q21.2 RNVU1-17 LSP1P5 RNVU1-18 1 dbVar:nssv15156967;dbVar:nssv15156970;dbVar:nssv15149867;nssv15151118;dbVar:nssv18842007;dbVar:nssv15140065;dbVar:nssv15127264;dbVar:nssv15140622;dbVar:nssv15142143;dbVar:nssv15139736;dbVar:nssv15136257;dbVar:nssv15137789;dbVar:nssv15135435;dbVar:nssv15132352;dbVar:nssv15127572;dbVar:nssv16736643;dbVar:nssv15135787;dbVar:nssv15121048;dbVar:nssv15132855 1:47852-249228449;1:82155-249218992;1:849468-249224684;1:142535936-157648813;1:143500224-149763815;1:143544036-149754161;1:143753741-151399970;1:143932351-149801420;1:144927579-153223600;1:145425396-149091187;1:145425396-149699420;1:145425396-149768855;1:145451330-156102366;1:145764500-249233096;1:145818703-149378266;1:146500973-149433185;1:147400638-149813625;1:147411535-149699420 0.07;0.07;0.07;1.11;2.67;2.69;2.19;2.85;2.02;1.34;3.92;3.85;1.57;0.16;4.70;5.71;6.94;7.31 dbVar:nssv15132982;dbVar:nssv15133379;dbVar:nssv15137633;dbVar:nssv15137132;dbVar:nssv15136850;dbVar:nssv15132445;dbVar:nssv15137470;dbVar:nssv15135169;dbVar:nssv15129680;dbVar:nssv15157514;dbVar:nssv15133691;dbVar:nssv15132524;dbVar:nssv15137778 1:143721527-149232481;1:145388356-149418924;1:145415157-149433207;1:145626238-149244468;1:145626238-149453964;1:145655993-149232481;1:145747243-149155026;1:145987157-149232481;1:146053395-249233096;1:146089269-149376652;1:146143190-149232481;1:146143190-149699420;1:146507650-149433207 3.04;4.15;4.17;4.63;4.37;4.68;3.32;5.16;0.16;5.09;5.42;4.71;5.72 DDD:2784;DDD:2806;TS40:ISCA-37469;dbVar;dgv4e203;nsv514006 1:147929337-149801433;1:148050780-149739249;1:148867552-149768855;1:149034710-149405578;chr1:149035900-149459350;1:149036513-149244464 0.0800 DDD:2784;DDD:2806;HI40:ISCA-37469;dgv375n100;dgv4e203;esv2422083;esv3894145 1:147929337-149801433;1:148050780-149739249;1:148867552-149768855;1:149034710-149405578;1:149036513-149278459;1:149036525-149256691;1:149039121-149211496 0.3041 IMH 1:4599855-170869838;1:17124869-234920285;1:17225077-149220997;1:17229845-149217063;1:69129973-188838391;1:76428346-179322403;1:108097960-232960701 0.4999 1:148050780-149739249 DDD:2784;1:149034710-149405578 DDD:2806;1:149036513-149244464 nsv514006;chr1:149068307-149095518 dbVar;chr1:149071634-149169501 dbVar;1:149071635-149169501 esv3587467;chr1:149093107-149137677 dbVar;chr1:149117907-149137677 dbVar;chr1:149138701-149141704 dbVar;chr1:149144314-149151529 dbVar;chr1:149151838-149203736 dbVar;1:149151839-149203736 esv3587470;1:149207861-149218152 1000g; 1:147929337-149801433 dgv4e203;1:148867552-149768855 TS40:ISCA-37469;chr1:149035900-149459350 dbVar;chr1:149037005-149068307 dbVar;chr1:149068307-149114963 dbVar;1:149071635-149169501 1000g;chr1:149081912-149105240 dbVar;chr1:149095518-149114963 dbVar;chr1:149117907-149138701 dbVar;chr1:149138701-149144314 dbVar;chr1:149144314-149215452 dbVar;1:149151839-149203736 1000g;chr1:149207860-149218152 dbVar;1:149207861-149218152 esv3587472 1:148050780-149739249 DDD:2784;1:149034710-149405578 DDD:2806;1:149035900-149053900 gnomAD-SV_v2.1_DEL_1_7834;1:149035900-149204000 gnomAD-SV_v2.1_DEL_1_7835;1:149036525-149256691 esv2422083;chr1:149046220-149046341 dbVar;1:149064634-149080509 gnomAD-SV_v2.1_DEL_1_7837;chr1:149071634-149169501 dbVar;1:149071635-149169501 esv3587466;chr1:149090849-149092378 dbVar;1:149090850-149092378 esv3587468;chr1:149132411-149132504 dbVar;chr1:149134000-149204000 dbVar;chr1:149139251-149139476 dbVar;chr1:149151838-149203736 dbVar;1:149151839-149203736 esv3587469;chr1:149156359-149156429 dbVar;chr1:149159117-149159254 dbVar;chr1:149173738-149173810 dbVar;1:149202746-149436842 DDD:2817... 1:147929337-149801433 dgv4e203;1:148867552-149768855 HI40:ISCA-37469;chr1:149035900-149053900 dbVar;chr1:149035900-149204000 dbVar;1:149036513-149278459 dgv375n100;1:149039121-149211496 esv3894145;chr1:149064634-149080509 dbVar;chr1:149065069-149065232 dbVar;1:149071635-149169501 1000g;chr1:149077419-149077503 dbVar;1:149090850-149092378 1000g;chr1:149132411-149132463 dbVar;chr1:149133674-149133762 dbVar;1:149134000-149204000 gnomAD-SV_v2.1_DEL_1_7844;1:149145234-149244654 DDD:2814;1:149151839-149203736 1000g;1:149152065-149204067 HI40:ISCA-46570;chr1:149158275-149158337 dbVar;chr1:149162118-149162210 dbVar;chr1:149191596-149191654 dbVar... 0.455 0.440 1:149209192-149209220 (GA)n 1:149035966-149106186 1:149191324-149214601;1:149200001-149214601 1:147832001-149058800 High Signal Region -1.0 1A (cf Gene_count, RE_gene, +0.00);2F/4O (cf B_loss_source, -1.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);3A (1 gene, +0.00);5F (+0.00) 1 1_149041934_149209289_DEL_1 1 149041934 149209289 -167355 DEL Benign NA split q21.2 RNVU1-17 NR_104078 1 149194105 149194269 164 0 0 no 1 txStart-txEnd UTR 149194105 149194269 1000g;DDD:2784;DDD:2806;TS40:ISCA-37469;dbVar;dgv4e203;esv3587470;nsv514006 1:147929337-149801433;1:148050780-149739249;1:148867552-149768855;1:149034710-149405578;chr1:149035900-149459350;1:149036513-149244464;chr1:149144314-149215452;chr1:149151838-149203736;1:149151839-149203736;1:149151839-149203736 0.0800 1000g;DDD:2784;DDD:2806;DDD:2814;HI40:ISCA-37469;HI40:ISCA-46570;dbVar;dgv375n100;dgv4e203;esv2422083;esv3587469;esv3894145;gnomAD-SV_v2.1_DEL_1_7835;gnomAD-SV_v2.1_DEL_1_7844 1:147929337-149801433;1:148050780-149739249;1:148867552-149768855;1:149034710-149405578;chr1:149035900-149204000;1:149035900-149204000;1:149036513-149278459;1:149036525-149256691;1:149039121-149211496;chr1:149134000-149204000;1:149134000-149204000;1:149145234-149244654;chr1:149151838-149203736;1:149151839-149203736;1:149151839-149203736;1:149152065-149204067 0.3041 IMH 1:4599855-170869838;1:17124869-234920285;1:17225077-149220997;1:17229845-149217063;1:69129973-188838391;1:76428346-179322403;1:108097960-232960701 0.4999 101954269 full=1 1_248738899_248785562_DEL_1 1 248738899 248785562 -46663 DEL Benign NA full q44 OR2T10 OR2T34 OR2T11 1 dbVar:nssv15156967;dbVar:nssv15156970;dbVar:nssv15149867;nssv15151118;dbVar:nssv15127572;dbVar:nssv15777262;dbVar:nssv15151024;dbVar:nssv18326443;dbVar:nssv16207620;dbVar:nssv15146793;dbVar:nssv15147003;dbVar:nssv15146656;dbVar:nssv16215284;dbVar:nssv15145669;dbVar:nssv15154064;dbVar:nssv15146178;dbVar:nssv18329268;dbVar:nssv15147314;dbVar:nssv15147005;dbVar:nssv15146390;dbVar:nssv15150211;dbVar:nssv15147383;dbVar:nssv15146391;dbVar:nssv15126459;dbVar:nssv15146018;dbVar:nssv15156411;dbVar:nssv15147341;dbVar:nssv15149590;dbVar:nssv15170725;dbVar:nssv15149119;dbVar:nssv15774642;dbVar:nssv15776729;dbVar:nssv15145719;dbVar:nssv15142850;dbVar:nssv15140102;dbVar:nssv15119915;dbVar:nssv15135164;dbVar:nssv18330767;dbVar:nssv15142418;dbVar:nssv15133070;dbVar:nssv15128248;dbVar:nssv18326380 1:47852-249228449;1:82155-249218992;1:849468-249224684;1:145764500-249233096;1:182388774-249111240;1:195483440-249213000;1:197867915-249224684;1:204045949-249218992;1:207519988-249224684;1:209819553-249225312;1:210136971-249212668;1:210152795-249218992;1:214197156-249212668;1:218252552-249224684;1:223521036-249212668;1:223972940-249224684;1:224002850-249212668;1:224016203-249185508;1:224075483-249185508;1:224105295-249224684;1:224210565-249212668;1:224284191-249212668;1:225049988-249233096;1:225626183-249060210;1:228529974-249181598;1:229158657-249212668;1:231670871-249213000;1:232232336-249218992;1:234050865-249213059;1:235582581-249224684;1:238669294-249224684;1:240407745-249185508;1:242324399-249224684;1:242656461-249213000;1:242992034-249185508;1:243095879-249158835;1:243258051-249224684;1:244197792-249224684;1:245476118-249212668;1:245665464-249233096;1:246850402-249205263 0.02;0.02;0.02;0.05;0.07;0.09;0.09;0.10;0.11;0.12;0.12;0.12;0.13;0.15;0.18;0.18;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.20;0.23;0.23;0.27;0.27;0.31;0.34;0.44;0.53;0.68;0.71;0.75;0.77;0.78;0.93;1.25;1.31;1.98 dbVar:nssv15129680;dbVar:nssv18326340;dbVar:nssv15149874;dbVar:nssv15148823;dbVar:nssv15148210;dbVar:nssv15148138;dbVar:nssv15148243;dbVar:nssv15146635;dbVar:nssv15146644;dbVar:nssv15146499;dbVar:nssv15146500;dbVar:nssv18330244;dbVar:nssv15145856;dbVar:nssv15153348;dbVar:nssv15146579;dbVar:nssv15131783;dbVar:nssv18329412;dbVar:nssv15138053;dbVar:nssv15124424;dbVar:nssv18841999;dbVar:nssv15126240;dbVar:nssv15133004;dbVar:nssv15771899;dbVar:nssv15133645;dbVar:nssv15153353;dbVar:nssv15605763;dbVar:nssv18792785;dbVar:nssv15772690;dbVar:nssv16255440 1:146053395-249233096;1:233012995-249206918;1:235797385-249224684;1:236719383-249212668;1:237806582-249212668;1:238196876-249218733;1:238356181-249224684;1:238514422-249212668;1:238917050-249212666;1:239721731-249212668;1:239793169-249218792;1:239910961-249224684;1:240628423-249212668;1:241051171-249224684;1:241210723-249218792;1:241920552-249185508;1:242045198-249212668;1:242208582-249224684;1:243103402-249119318;1:243384761-249213309;1:243477621-249233096;1:243949932-249212668;1:244379482-249224684;1:244745426-249212668;1:244797640-249224684;1:245341154-249212429;1:245704070-249212562;1:246565045-249224684;1:246853200-249181899 0.05;0.29;0.35;0.37;0.41;0.42;0.43;0.44;0.45;0.49;0.50;0.50;0.54;0.57;0.58;0.64;0.65;0.67;0.78;0.80;0.81;0.89;0.96;1.04;1.05;1.21;1.33;1.75;2.00 dbVar chr1:248070033-248787097;chr1:248502721-248875715;chr1:248720994-248795675 0.01 DDD:4636;DDD:4639;HI40:ISCA-46339;dbVar;dgv166e212;dgv630n100;esv2760083;esv2763780;gnomAD-SV_v2.1_DEL_1_13889 1:248605753-248818483;1:248683401-248814080;1:248688222-248828223;1:248693963-248856466;1:248727631-248859425;1:248731000-248798200;chr1:248731000-248798200;1:248731000-248798200;1:248737436-248818471 0.2767 IMH 1:248596196-248822398;1:248601499-248817009;1:248601686-248817033;1:248602851-248816084;1:248606626-248811646;1:248609654-248808661 0.4394 chr1:248502721-248875715 dbVar;chr1:248720994-248795675 dbVar;chr1:248745821-248849502 dbVar;1:248756742-248797597 1000g chr1:248070033-248787097 dbVar;chr1:248560944-248756386 dbVar;chr1:248745821-248795675 dbVar;chr1:248756741-248797597 dbVar 1:248605753-248818483 esv2760083;1:248688222-248828223 dgv166e212;1:248712455-248757403 HI40:ISCA-46337;1:248712455-248757403 gnomAD-SV_v2.1_DEL_1_13885;1:248729000-248743000 HI40:ISCA-46338;1:248729000-248743000 gnomAD-SV_v2.1_DEL_1_13888;chr1:248731000-248798200 dbVar;1:248737436-248818471 dgv630n100;chr1:248738000-248744000 dbVar;1:248739346-248798392 esv2660478;1:248739502-248798200 DDD:4645;chr1:248741000-248749000 dbVar;chr1:248742276-248742334 dbVar;1:248753185-248795277 dgv167e212;chr1:248755655-248758478 dbVar;1:248755656-248758478 HI40:ISCA-46577;1:248755670-248758483 DDD:4648;chr1:248756741-248797597 dbVar;1:248756742-248797597 esv3589559; chr1:248469040-248768529 dbVar;1:248683401-248814080 esv2763780;1:248693963-248856466 DDD:4636;chr1:248712455-248757403 dbVar;1:248727631-248859425 DDD:4639;chr1:248729000-248743000 dbVar;1:248731000-248798200 HI40:ISCA-46339;1:248731000-248798200 gnomAD-SV_v2.1_DEL_1_13889;1:248738000-248744000 HI40:ISCA-46340;1:248738000-248744000 gnomAD-SV_v2.1_DEL_1_13890;chr1:248739419-248739472 dbVar;1:248739517-248797213 esv2421359;1:248741000-248749000 gnomAD-SV_v2.1_DEL_1_13892;1:248749183-248797201 dgv633n100;1:248753986-248795457 nsv514048;1:248755656-248758478 1000g;1:248755656-248758478 esv3589558;chr1:248755674-248758483 dbVar;1:248756742-248797597 1000g;1:248756881-248797809 HI40:ISCA-46576 864662 loss 0.305 0.330 1:248692097-248751707 92.08 0.553342166544692 -0.565086620797697 9 6.5559e-04 1.5575e-04 -1.0 1A (cf Gene_count, RE_gene, +0.00);2F/4O (cf B_loss_source, -1.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);3A (1 gene, +0.00);5F (+0.00) 1 @@ -421,7 +421,7 @@ X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA spl 14_74001652_74022324_DEL_1 14 74001652 74022324 -20672 DEL Benign NA full q24.3 HEATR4;ACOT1 RIOX1 ACOT2 2 COQ6 (morbid/RE=EA_enhancer);ISCA2 (morbid/RE=GH_enhancer);PSEN1 (morbid/RE=EA_enhancer) dbVar:nssv15162475;dbVar:nssv15161908;dbVar:nssv15162476;dbVar:nssv15161629;dbVar:nssv15161107;nssv15161424;dbVar:nssv15161067;dbVar:nssv17976728;dbVar:nssv17517489;dbVar:nssv15161689 14:19000423-107289053;14:19280734-107287663;14:19327824-107287663;14:19794562-107234280;14:20511674-107285437;14:20619309-107263478;14:37671059-106985955;14:54654002-75828024;14:73750742-107285437 0.02;0.02;0.02;0.02;0.02;0.02;0.03;0.10;0.06 dbVar:nssv15161064;dbVar:nssv8639619;dbVar:nssv15161370 14:70028817-82441728;14:73152116-77698582;14:73809922-79301402 0.17;0.45;0.38 DDD:43163;dbVar;dgv655e212;dgv657e212 chr14:73984520-74526186;chr14:73990657-74053945;14:73995762-74031034;chr14:73996900-74040000;14:73998504-74050492;14:74001111-74024031 0.1799 1000g;DDD:43161;DDD:43163;dbVar;dgv401e199;dgv654e212;esv2421969;esv3634909 14:73995762-74031034;14:73996446-74025592;14:73997052-74024450;chr14:73997195-74024603;14:73997196-74024603;14:73997196-74024603;14:73998504-74050492;14:73998977-74028117 0.8135 IMH 14:34547844-76392174 0.0264 chr14:73990657-74053945 dbVar;chr14:73996900-74040000 dbVar;14:74001111-74024031 dgv657e212;14:74001655-74004589 DDD:43169;14:74007816-74040003 IMH;chr14:74007919-74039902 dbVar;14:74008288-74008463 nsv514748;chr14:74011083-74024007 dbVar;14:74011084-74024007 1000g;14:74020544-74030798 DDD:43176 chr14:73984520-74526186 dbVar;14:73995762-74031034 dgv655e212;14:73998504-74050492 DDD:43163;14:74001655-74002844 DDD:43168;14:74007603-74039880 IMH;14:74007864-74040335 IMH;14:74007919-74039902 gnomAD-SV_v2.1_DUP_14_38740;14:74010621-74023183 DDD:43174;14:74011084-74024007 1000g;14:74011084-74024007 dgv407e214 14:73996446-74025592 dgv401e199;chr14:73997195-74024603 dbVar;14:73997196-74024603 esv3634909;14:73998977-74028117 esv2421969;14:74002704-74003063 nsv514747;14:74006839-74031034 dgv661e212;14:74010064-74012567 nsv514749;14:74011084-74024007 1000g;chr14:74019700-74051250 dbVar; 14:73995762-74031034 dgv654e212;14:73997052-74024450 DDD:43161;14:73997196-74024603 1000g;14:73998504-74050492 DDD:43163;14:74001124-74020979 DDD:43165;14:74006839-74024031 dgv660e212;14:74006971-74038879 esv2672436;chr14:74011083-74024007 dbVar;14:74011084-74024007 esv3634910;14:74022142-74045835 DDD:43178 2724245;1059769 loss 0.420 0.380 14:74001513-74001649;14:74001714-74002042 FLAM_A;L1ME4a 14:74021756-74022225 L1M1 14:74000099-74020296 85.75 2.96959666946894 4.05533207481267 6 6.4141e-05 3.5999e-02 -1.0 1A (cf Gene_count, RE_gene, +0.00);2F/4O (cf B_loss_source, -1.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);3A (2 genes, +0.00);5F (+0.00) 1 14_74001652_74022324_DEL_1 14 74001652 74022324 -20672 DEL Benign NA split q24.3 HEATR4 NM_001220484 1 73945188 74025651 20673 0 0 no 18 intron1-intron1 5'UTR 3130 5' 74001651 74022324 DDD:43163;dbVar;dgv655e212;dgv657e212 chr14:73984520-74526186;chr14:73990657-74053945;14:73995762-74031034;chr14:73996900-74040000;14:73998504-74050492;14:74001111-74024031 0.1799 1000g;DDD:43161;DDD:43163;dbVar;dgv401e199;dgv654e212;esv2421969;esv3634909 14:73995762-74031034;14:73996446-74025592;14:73997052-74024450;chr14:73997195-74024603;14:73997196-74024603;14:73997196-74024603;14:73998504-74050492;14:73998977-74028117 0.8135 IMH 14:34547844-76392174 0.0264 2724245;1059769 loss 85.75 -0.328810289068687 -0.503765753071617 399671 6 1.3711e-29 6.2323e-17 full=1 14_74001652_74022324_DEL_1 14 74001652 74022324 -20672 DEL Benign NA split q24.3 ACOT1 NM_001037161 2 74003846 74010500 6654 1266 100 no 3 txStart-txEnd 5'UTR-3'UTR 74003846 74010500 DDD:43163;dbVar;dgv655e212;dgv657e212 chr14:73984520-74526186;chr14:73990657-74053945;14:73995762-74031034;chr14:73996900-74040000;14:73998504-74050492;14:74001111-74024031 0.1799 1000g;DDD:43161;DDD:43163;DDD:43165;dbVar;dgv401e199;dgv654e212;esv2421969;esv3634909 14:73995762-74031034;14:73996446-74025592;14:73997052-74024450;chr14:73997195-74024603;14:73997196-74024603;14:73997196-74024603;14:73998504-74050492;14:73998977-74028117;14:74001124-74020979 0.8135 IMH 14:34547844-76392174 0.0264 79.11 2.96959666946894 4.05533207481267 641371 8 6.4141e-05 3.5999e-02 full=1 -15_20432852_22765687_DUP_1 15 20432852 22765687 2332835 DUP Benign NA full q11.1-q11.2 CHEK2P2;HERC2P3;GOLGA6L6;GOLGA8CP;NBEAP1;MIR3118-2;POTEB2;MIR5701-1;LINC01193;FAM30C;LOC646214;CXADRP2;POTEB;NF1P2;LINC02203;OR4M2-OT1;OR4M2;OR4N4;OR4N3P;IGHV1OR15-1;IGHV1OR15-3;MIR1268A;REREP3;MIR4509-1;GOLGA8DP;GOLGA6L1 TUBGCP5 26 ADAM22 (morbid/RE=mTL_miRNA);AGO2 (morbid/RE=mTL_miRNA);AIP (morbid/RE=mTL_miRNA);ALPI (morbid/RE=mTL_miRNA);BLOC1S3 (morbid/RE=mTL_miRNA);CA12 (morbid/RE=mTL_miRNA);CACNA1H (morbid/RE=mTL_miRNA);CAMK2G (morbid/RE=mTL_miRNA);CDKN1B (HI=3/morbid/RE=mTL_miRNA);CERS1 (morbid/RE=mTL_miRNA);DHCR7 (morbid/RE=mTL_miRNA);DICER1 (HI=3/morbid/RE=mTL_miRNA);EDAR (morbid/RE=mTL_miRNA);EGLN1 (morbid/RE=mTL_miRNA);EPB41 (morbid/RE=mTL_miRNA);EPHA2 (morbid/RE=mTL_miRNA);ERBB3 (morbid/RE=mTL_miRNA);FRMPD4 (morbid/RE=mTL_miRNA);GABPA (morbid/RE=mTL_miRNA);GABRB2 (morbid/RE=mTL_miRNA);GATA6 (HI=3/morbid/RE=mTL_miRNA);GCK (morbid/RE=mTL_miRNA);HPRT1 (HI=3/morbid/RE=mTL_miRNA);HRAS (morbid/RE=mTL_miRNA);HSPD1 (morbid/RE=mTL_miRNA);IL6ST (morbid/RE=mTL_miRNA);INF2 (morbid/RE=mTL_miRNA);ISCU (morbid/RE=mTL_miRNA);KAT6B (HI=3/morbid/RE=mTL_miRNA);KCNJ10 (morbid/RE=mTL_miRNA);KIF23 (morbid/RE=mTL_miRNA);KLHL3 (morbid/RE=mTL_miRNA);KMT2D (HI=3/morbid/RE=mTL_miRNA);LRIG2 (morbid/RE=mTL_miRNA);MAGEL2 (morbid/RE=ABC_enhancer);MAPK1 (morbid/RE=mTL_miRNA);MAPKAPK5 (morbid/RE=mTL_miRNA);MKRN3 (morbid/RE=ABC_enhancer);NDUFS1 (morbid/RE=mTL_miRNA);NEK9 (morbid/RE=mTL_miRNA);NIPA1 (morbid/RE=ABC_enhancer);NOM1 (morbid/RE=mTL_miRNA);NPM1 (morbid/RE=mTL_miRNA);NR4A3 (morbid/RE=mTL_miRNA);ORAI1 (morbid/RE=mTL_miRNA);PEX26 (morbid/RE=mTL_miRNA);PIGP (morbid/RE=mTL_miRNA);POT1 (morbid/RE=mTL_miRNA);PRKCA (morbid/RE=mTL_miRNA);PRLR (morbid/RE=mTL_miRNA)... dbVar:nssv15172447;dbVar:nssv15149081;dbVar:nssv15148902;dbVar:nssv15125410;dbVar:nssv15127689;dbVar:nssv15127462;dbVar:nssv15126524;dbVar:nssv15124656;dbVar:nssv15127659;dbVar:nssv15126021;dbVar:nssv15172190;dbVar:nssv15150569;dbVar:nssv15147052;dbVar:nssv15145742;dbVar:nssv15147053;dbVar:nssv15175556;dbVar:nssv15145744;dbVar:nssv15774514;dbVar:nssv15148785;dbVar:nssv15605894;dbVar:nssv15149135;dbVar:nssv15148575;dbVar:nssv15147687;dbVar:nssv15605895;dbVar:nssv15147058;dbVar:nssv15145747;dbVar:nssv15146452;dbVar:nssv15149084;dbVar:nssv15147355;dbVar:nssv15149616;dbVar:nssv15147801;dbVar:nssv15146958;dbVar:nssv15149124;dbVar:nssv15123304;dbVar:nssv15147513;dbVar:nssv15127079;dbVar:nssv15605897;dbVar:nssv15605899;dbVar:nssv15125414;dbVar:nssv15148135;dbVar:nssv15146406;dbVar:nssv15148053;dbVar:nssv15145661;nssv15146195;dbVar:nssv15145807;dbVar:nssv15147309;dbVar:nssv15145805;nssv15146672;dbVar:nssv15145677;dbVar:nssv18841879;dbVar:nssv16207640;dbVar:nssv16215281;dbVar:nssv15755702;dbVar:nssv15145809;nssv15150756;dbVar:nssv15145849;dbVar:nssv15146718;dbVar:nssv15148834;dbVar:nssv15147450;nssv15148847;dbVar:nssv15146035;dbVar:nssv15148907;dbVar:nssv15146735;dbVar:nssv15148824;dbVar:nssv15146042;dbVar:nssv15147411;dbVar:nssv15147985;dbVar:nssv15148007;dbVar:nssv15146680;dbVar:nssv15147424;dbVar:nssv15148131;dbVar:nssv15145909 15:20016812-102493540;15:20044343-28924405;15:20045835-32914140;15:20063341-102521392;15:20063341-29093456;15:20063341-29209620;15:20063341-30448351;15:20063341-32439302;15:20063341-32942613;15:20063341-32986584;15:20071674-102461162;15:20071674-30737344;15:20085003-28947309;15:20085003-29210720;15:20085004-28178425;15:20102541-29031690;15:20110723-28408897;15:20179528-32998070;15:20190549-28406650;15:20190549-30300265;15:20190549-32386089;15:20190549-32917801;15:20190549-32917857;15:20191653-28525310;15:20207714-30641396;15:20207714-32413623;15:20251769-28631040;15:20306550-26208861;15:20686197-30509384;15:20733396-102511616;15:20733396-28406650;15:20733396-28406709;15:20848461-27662530;15:21129985-28535266;15:22304597-28577787;15:22318645-29209620;15:22382861-32396457;15:22383300-32917689;15:22409402-28952953;15:22652061-28883749;15:22669053-28435888;15:22698523-28940098;15:22698523-29030517;15:22698523-29085896;15:22698523-30366124;15:22698523-30653936;15:22698523-32899558;15:22742397-28567325;15:22750306-23114374;15:22750306-23164315;15:22750306-23226254;15:22765629-28520313;15:22765629-28557186;15:22765629-28559402;15:22765629-28912057;15:22765629-29006852;15:22765629-29085896;15:22765629-29096442;15:22765629-30366124;15:22765629-30653936;15:22765629-30819509;15:22765629-38837526;15:22765638-28520316;15:22765638-29085888;15:22765638-30366079;15:22765638-31467435;15:22765638-32509932;15:22765638-32899558 2.83;26.27;18.13;2.83;25.83;25.51;22.46;18.85;18.11;18.05;2.83;21.87;26.32;25.56;28.82;26.13;28.11;18.20;28.39;23.08;19.13;18.33;18.33;27.99;22.36;19.11;27.84;39.52;21.17;2.49;26.49;26.49;28.14;22.09;7.35;6.49;3.82;3.63;5.44;1.82;1.68;1.08;1.06;1.05;0.88;0.84;0.66;0.40;4.23;3.72;3.23;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00 dbVar:nssv16865885;dbVar:nssv18326337;dbVar:nssv15605896;dbVar:nssv15123310;dbVar:nssv18841918;dbVar:nssv16208656;dbVar:nssv18792791;dbVar:nssv16215320;dbVar:nssv15147060;dbVar:nssv15146946;dbVar:nssv15147062;dbVar:nssv15153078;dbVar:nssv18792767;dbVar:nssv15160814;dbVar:nssv15160813;dbVar:nssv15159751;dbVar:nssv15160812;dbVar:nssv16216734;dbVar:nssv16297059;dbVar:nssv15147987;dbVar:nssv16215225;dbVar:nssv16208660;dbVar:nssv15160288;dbVar:nssv15146407;dbVar:nssv15145750;dbVar:nssv16297060;dbVar:nssv15149692;dbVar:nssv15147712;dbVar:nssv15145753;dbVar:nssv15147316;dbVar:nssv15145752;nssv15148282;dbVar:nssv15146196;nssv15146797;dbVar:nssv15146673;dbVar:nssv15147319;dbVar:nssv18326338;dbVar:nssv17955873;dbVar:nssv18842037;dbVar:nssv15145025;dbVar:nssv15145441;dbVar:nssv15145201;dbVar:nssv17517455;dbVar:nssv16297061;dbVar:nssv16208668;dbVar:nssv15129123;dbVar:nssv16215325;dbVar:nssv15130100;dbVar:nssv16209033;dbVar:nssv15172201;dbVar:nssv15606130;dbVar:nssv15132915;nssv16736610;dbVar:nssv16736624;nssv16736646;dbVar:nssv16091751;dbVar:nssv15130140;dbVar:nssv15146040;dbVar:nssv15148147;dbVar:nssv15146043;dbVar:nssv15145953;dbVar:nssv15148915;dbVar:nssv15148857;dbVar:nssv15146645 15:20612841-23272733;15:20739498-28566579;15:20848751-32925141;15:21129985-32514926;15:21172301-26208861;15:21903816-23272733;15:22070541-23262343;15:22299435-23226254;15:22318598-28940098;15:22427967-23226254;15:22432629-30641396;15:22503622-23091180;15:22646195-23174919;15:22646195-23191269;15:22646195-23199953;15:22646195-23302626;15:22646195-23428906;15:22646693-28964445;15:22646800-23301267;15:22652048-28705151;15:22652331-23226254;15:22652331-23272733;15:22652331-29050198;15:22669053-28435888;15:22669053-30401486;15:22695843-23300942;15:22698523-28406650;15:22698523-28406709;15:22698523-28520313;15:22698523-28557186;15:22698523-28691460;15:22698523-29030517;15:22698523-29085896;15:22698523-38381783;15:22736247-23265381;15:22743128-23246000;15:22744150-23246340;15:22746945-23102836;15:22746945-23121448;15:22746945-23199421;15:22746949-23323445;15:22749636-23301317;15:22750306-23109890;15:22750306-23164315;15:22750306-23222284;15:22750306-23226254;15:22750306-23272733;15:22750306-28535266;15:22751195-23251194;15:22765629-23085096;15:22765629-23191062;15:22765629-23217514;15:22765629-23300287;15:22765629-28559402;15:22765629-28691460;15:22765629-28912057;15:22765629-28940098;15:22765629-28976193;15:22765629-32676855;15:22765638-29085888 80.94;25.89;15.87;14.37;31.64;62.96;58.33;50.31;6.75;42.31;4.06;44.60;22.60;21.92;21.58;18.20;15.27;1.88;18.17;1.88;19.75;18.27;1.77;1.68;1.25;11.54;1.18;1.18;1.15;1.15;1.12;1.06;1.05;0.43;5.56;4.49;4.29;5.27;5.00;4.14;3.25;2.91;4.28;3.72;3.26;3.23;2.94;0.27;2.90;0.02;0.01;0.01;0.01;0.00;0.00;0.00;0.00;0.00;0.00;0.00 dgv40e203;dgv93e55 15:20016329-23487546;15:20167087-22869764 0.1500 dgv40e203;dgv94e55 15:20016329-23487546;15:20167087-23222284 0.1000 15:20037886-21236662 DDD:43986;15:20167087-21200251 dgv91e55;15:20167087-22869764 dgv93e55;chr15:20198164-20894589 dbVar;15:20388742-22207639 TS40:ISCA-46686;15:20556528-20624827 DDD:44039;chr15:20598942-20625797 dbVar;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20650251-20710056 nsv514763;15:20686000-20711550 gnomAD-SV_v2.1_DUP_15_39411;15:20717000-20724000 gnomAD-SV_v2.1_DUP_15_39413;15:20749534-20773538 DDD:44053;chr15:20760182-20760295 dbVar;chr15:20783000-20799000 dbVar;chr15:20786000-20827000 dbVar;chr15:20846721-20867075 dbVar;15:20846722-20867075 1000g;15:20846722-20867075 1000g... 15:20016329-23487546 dgv40e203;15:20144627-21266621 DDD:43992;15:20167087-22588036 dgv92e55;15:20182203-22608281 DDD:44001;15:20203950-22588019 dgv2191n100;15:20550641-20637800 nsv514762;15:20575412-20599635 DDD:44041;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 dgv430e214;chr15:20686000-20711550 dbVar;chr15:20717000-20724000 dbVar;15:20746872-20747023 DDD:44052;15:20751226-21293606 esv3892595;15:20779661-20885221 DDD:44055;15:20783000-20799000 gnomAD-SV_v2.1_DUP_15_39419;15:20786000-20827000 gnomAD-SV_v2.1_DUP_15_39420;15:20846722-20867075 1000g;15:20846722-20867075 1000g... 15:20144627-21266621 DDD:43992;15:20167090-22588036 dgv96e55;15:20396654-20496584 DDD:44013;15:20468142-20468256 DDD:44028;15:20547692-20548186 IMH;15:20575412-20599635 DDD:44041;15:20581464-20589613 esv2674516;15:20587419-20587601 gnomAD-SV_v2.1_DEL_15_145824;15:20698000-20706500 gnomAD-SV_v2.1_DEL_15_145825;chr15:20729175-20745525 dbVar;15:20749534-20773538 DDD:44053;chr15:20781000-20811000 dbVar;chr15:20820627-20821162 dbVar;chr15:20820696-20820748 dbVar;chr15:20891428-20891785 dbVar;chr15:20976350-20994050 dbVar;15:21042050-21056300 HI40:ISCA-46469;15:21042050-21056300 gnomAD-SV_v2.1_DEL_15_145837;chr15:21200932-21201488 dbVar;15:21321039-21325126 DDD:44088... 15:20016329-23487546 dgv40e203;15:20167087-23222284 dgv94e55;15:20182203-22608281 DDD:44001;chr15:20436850-20437443 dbVar;chr15:20511834-20511893 dbVar;15:20556528-20624827 DDD:44039;15:20581414-20589751 IMH;chr15:20587419-20587601 dbVar;chr15:20698000-20706500 dbVar;15:20729175-20745525 HI40:ISCA-46468;chr15:20732300-20738500 dbVar;15:20779661-20885221 DDD:44055;chr15:20806100-20823500 dbVar;15:20820627-20821162 gnomAD-SV_v2.1_DEL_15_145830;chr15:20881220-20881325 dbVar;15:20945597-20946011 esv2664547;chr15:21017763-21017994 dbVar;chr15:21042050-21056300 dbVar;15:21069662-21311925 DDD:44068;chr15:21282800-21314300 dbVar... 650272;863409;230;2184774;679816;647783;656664;688870;893394;681561;683397;680362;846716;872413;658002;669462;670005;652017;920564;1571937;1923126;2037878;3089073;1104581;1530844;2453908;3049079;1892580;669650;674986;653193;696167;2579336;702830;2734909;1080050;1597023;2373586;2580364;2726476;2754714;661971;679225;1494768;1799616;1254151;670502;658452;2684440;1935900;1278559;... loss;gain 0.380 0.455 15:22765220-22765620;15:22765771-22766019 L1MC4;L2 15:20345908-20498625;15:20390971-20432871 15:22754054-22770109 15:20200401-22365100 High Signal Region 93.81 2.22375841006203 2.58284576037233 8 3.5277e-01 5.7189e-01 -1.0 1A (cf Gene_count, RE_gene, +0.00);2D (cf B_gain_source, -1.00);2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00);3A (26 genes, +0.00);5F (+0.00) 1 +15_20432852_22765687_DUP_1 15 20432852 22765687 2332835 DUP Benign NA full q11.1-q11.2 CHEK2P2;HERC2P3;GOLGA6L6;GOLGA8CP;NBEAP1;MIR3118-2;POTEB2;MIR5701-1;LINC01193;FAM30C;LOC646214;CXADRP2;POTEB;NF1P2;LINC02203;OR4M2-OT1;OR4M2;OR4N4;OR4N3P;IGHV1OR15-1;IGHV1OR15-3;MIR1268A;REREP3;MIR4509-1;GOLGA8DP;GOLGA6L1 TUBGCP5 26 ADAM22 (morbid/RE=mTL_miRNA);AGO2 (morbid/RE=mTL_miRNA);AIP (morbid/RE=mTL_miRNA);BLOC1S3 (morbid/RE=mTL_miRNA);CA12 (morbid/RE=mTL_miRNA);CACNA1H (morbid/RE=mTL_miRNA);CAMK2G (morbid/RE=mTL_miRNA);CDKN1B (HI=3/morbid/RE=mTL_miRNA);CERS1 (morbid/RE=mTL_miRNA);DHCR7 (morbid/RE=mTL_miRNA);DICER1 (HI=3/morbid/RE=mTL_miRNA);EDAR (morbid/RE=mTL_miRNA);EGLN1 (morbid/RE=mTL_miRNA);EPB41 (morbid/RE=mTL_miRNA);EPHA2 (morbid/RE=mTL_miRNA);ERBB3 (morbid/RE=mTL_miRNA);FRMPD4 (morbid/RE=mTL_miRNA);GABRB2 (morbid/RE=mTL_miRNA);GATA6 (HI=3/morbid/RE=mTL_miRNA);GCK (morbid/RE=mTL_miRNA);HPRT1 (HI=3/morbid/RE=mTL_miRNA);HRAS (morbid/RE=mTL_miRNA);HSPD1 (morbid/RE=mTL_miRNA);IL6ST (morbid/RE=mTL_miRNA);INF2 (morbid/RE=mTL_miRNA);ISCU (morbid/RE=mTL_miRNA);KAT6B (HI=3/morbid/RE=mTL_miRNA);KCNJ10 (morbid/RE=mTL_miRNA);KIF23 (morbid/RE=mTL_miRNA);KLHL3 (morbid/RE=mTL_miRNA);KMT2D (HI=3/morbid/RE=mTL_miRNA);LRIG2 (morbid/RE=mTL_miRNA);MAGEL2 (morbid/RE=ABC_enhancer);MAPK1 (morbid/RE=mTL_miRNA);MAPKAPK5 (morbid/RE=mTL_miRNA);MKRN3 (morbid/RE=ABC_enhancer);NDUFS1 (morbid/RE=mTL_miRNA);NEK9 (morbid/RE=mTL_miRNA);NIPA1 (morbid/RE=ABC_enhancer);NPM1 (morbid/RE=mTL_miRNA);ORAI1 (morbid/RE=mTL_miRNA);PEX26 (morbid/RE=mTL_miRNA);PIGP (morbid/RE=mTL_miRNA);POT1 (morbid/RE=mTL_miRNA);PRKCA (morbid/RE=mTL_miRNA);PRLR (morbid/RE=mTL_miRNA);PURA (HI=3/morbid/RE=mTL_miRNA);RAC3 (morbid/RE=mTL_miRNA);SCN1A (HI=3/morbid/RE=mTL_miRNA);SGPL1 (morbid/RE=mTL_miRNA)... dbVar:nssv15172447;dbVar:nssv15149081;dbVar:nssv15148902;dbVar:nssv15125410;dbVar:nssv15127689;dbVar:nssv15127462;dbVar:nssv15126524;dbVar:nssv15124656;dbVar:nssv15127659;dbVar:nssv15126021;dbVar:nssv15172190;dbVar:nssv15150569;dbVar:nssv15147052;dbVar:nssv15145742;dbVar:nssv15147053;dbVar:nssv15175556;dbVar:nssv15145744;dbVar:nssv15774514;dbVar:nssv15148785;dbVar:nssv15605894;dbVar:nssv15149135;dbVar:nssv15148575;dbVar:nssv15147687;dbVar:nssv15605895;dbVar:nssv15147058;dbVar:nssv15145747;dbVar:nssv15146452;dbVar:nssv15149084;dbVar:nssv15147355;dbVar:nssv15149616;dbVar:nssv15147801;dbVar:nssv15146958;dbVar:nssv15149124;dbVar:nssv15123304;dbVar:nssv15147513;dbVar:nssv15127079;dbVar:nssv15605897;dbVar:nssv15605899;dbVar:nssv15125414;dbVar:nssv15148135;dbVar:nssv15146406;dbVar:nssv15148053;dbVar:nssv15145661;nssv15146195;dbVar:nssv15145807;dbVar:nssv15147309;dbVar:nssv15145805;nssv15146672;dbVar:nssv15145677;dbVar:nssv18841879;dbVar:nssv16207640;dbVar:nssv16215281;dbVar:nssv15755702;dbVar:nssv15145809;nssv15150756;dbVar:nssv15145849;dbVar:nssv15146718;dbVar:nssv15148834;dbVar:nssv15147450;nssv15148847;dbVar:nssv15146035;dbVar:nssv15148907;dbVar:nssv15146735;dbVar:nssv15148824;dbVar:nssv15146042;dbVar:nssv15147411;dbVar:nssv15147985;dbVar:nssv15148007;dbVar:nssv15146680;dbVar:nssv15147424;dbVar:nssv15148131;dbVar:nssv15145909 15:20016812-102493540;15:20044343-28924405;15:20045835-32914140;15:20063341-102521392;15:20063341-29093456;15:20063341-29209620;15:20063341-30448351;15:20063341-32439302;15:20063341-32942613;15:20063341-32986584;15:20071674-102461162;15:20071674-30737344;15:20085003-28947309;15:20085003-29210720;15:20085004-28178425;15:20102541-29031690;15:20110723-28408897;15:20179528-32998070;15:20190549-28406650;15:20190549-30300265;15:20190549-32386089;15:20190549-32917801;15:20190549-32917857;15:20191653-28525310;15:20207714-30641396;15:20207714-32413623;15:20251769-28631040;15:20306550-26208861;15:20686197-30509384;15:20733396-102511616;15:20733396-28406650;15:20733396-28406709;15:20848461-27662530;15:21129985-28535266;15:22304597-28577787;15:22318645-29209620;15:22382861-32396457;15:22383300-32917689;15:22409402-28952953;15:22652061-28883749;15:22669053-28435888;15:22698523-28940098;15:22698523-29030517;15:22698523-29085896;15:22698523-30366124;15:22698523-30653936;15:22698523-32899558;15:22742397-28567325;15:22750306-23114374;15:22750306-23164315;15:22750306-23226254;15:22765629-28520313;15:22765629-28557186;15:22765629-28559402;15:22765629-28912057;15:22765629-29006852;15:22765629-29085896;15:22765629-29096442;15:22765629-30366124;15:22765629-30653936;15:22765629-30819509;15:22765629-38837526;15:22765638-28520316;15:22765638-29085888;15:22765638-30366079;15:22765638-31467435;15:22765638-32509932;15:22765638-32899558 2.83;26.27;18.13;2.83;25.83;25.51;22.46;18.85;18.11;18.05;2.83;21.87;26.32;25.56;28.82;26.13;28.11;18.20;28.39;23.08;19.13;18.33;18.33;27.99;22.36;19.11;27.84;39.52;21.17;2.49;26.49;26.49;28.14;22.09;7.35;6.49;3.82;3.63;5.44;1.82;1.68;1.08;1.06;1.05;0.88;0.84;0.66;0.40;4.23;3.72;3.23;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00 dbVar:nssv16865885;dbVar:nssv18326337;dbVar:nssv15605896;dbVar:nssv15123310;dbVar:nssv18841918;dbVar:nssv16208656;dbVar:nssv18792791;dbVar:nssv16215320;dbVar:nssv15147060;dbVar:nssv15146946;dbVar:nssv15147062;dbVar:nssv15153078;dbVar:nssv18792767;dbVar:nssv15160814;dbVar:nssv15160813;dbVar:nssv15159751;dbVar:nssv15160812;dbVar:nssv16216734;dbVar:nssv16297059;dbVar:nssv15147987;dbVar:nssv16215225;dbVar:nssv16208660;dbVar:nssv15160288;dbVar:nssv15146407;dbVar:nssv15145750;dbVar:nssv16297060;dbVar:nssv15149692;dbVar:nssv15147712;dbVar:nssv15145753;dbVar:nssv15147316;dbVar:nssv15145752;nssv15148282;dbVar:nssv15146196;nssv15146797;dbVar:nssv15146673;dbVar:nssv15147319;dbVar:nssv18326338;dbVar:nssv17955873;dbVar:nssv18842037;dbVar:nssv15145025;dbVar:nssv15145441;dbVar:nssv15145201;dbVar:nssv17517455;dbVar:nssv16297061;dbVar:nssv16208668;dbVar:nssv15129123;dbVar:nssv16215325;dbVar:nssv15130100;dbVar:nssv16209033;dbVar:nssv15172201;dbVar:nssv15606130;dbVar:nssv15132915;nssv16736610;dbVar:nssv16736624;nssv16736646;dbVar:nssv16091751;dbVar:nssv15130140;dbVar:nssv15146040;dbVar:nssv15148147;dbVar:nssv15146043;dbVar:nssv15145953;dbVar:nssv15148915;dbVar:nssv15148857;dbVar:nssv15146645 15:20612841-23272733;15:20739498-28566579;15:20848751-32925141;15:21129985-32514926;15:21172301-26208861;15:21903816-23272733;15:22070541-23262343;15:22299435-23226254;15:22318598-28940098;15:22427967-23226254;15:22432629-30641396;15:22503622-23091180;15:22646195-23174919;15:22646195-23191269;15:22646195-23199953;15:22646195-23302626;15:22646195-23428906;15:22646693-28964445;15:22646800-23301267;15:22652048-28705151;15:22652331-23226254;15:22652331-23272733;15:22652331-29050198;15:22669053-28435888;15:22669053-30401486;15:22695843-23300942;15:22698523-28406650;15:22698523-28406709;15:22698523-28520313;15:22698523-28557186;15:22698523-28691460;15:22698523-29030517;15:22698523-29085896;15:22698523-38381783;15:22736247-23265381;15:22743128-23246000;15:22744150-23246340;15:22746945-23102836;15:22746945-23121448;15:22746945-23199421;15:22746949-23323445;15:22749636-23301317;15:22750306-23109890;15:22750306-23164315;15:22750306-23222284;15:22750306-23226254;15:22750306-23272733;15:22750306-28535266;15:22751195-23251194;15:22765629-23085096;15:22765629-23191062;15:22765629-23217514;15:22765629-23300287;15:22765629-28559402;15:22765629-28691460;15:22765629-28912057;15:22765629-28940098;15:22765629-28976193;15:22765629-32676855;15:22765638-29085888 80.94;25.89;15.87;14.37;31.64;62.96;58.33;50.31;6.75;42.31;4.06;44.60;22.60;21.92;21.58;18.20;15.27;1.88;18.17;1.88;19.75;18.27;1.77;1.68;1.25;11.54;1.18;1.18;1.15;1.15;1.12;1.06;1.05;0.43;5.56;4.49;4.29;5.27;5.00;4.14;3.25;2.91;4.28;3.72;3.26;3.23;2.94;0.27;2.90;0.02;0.01;0.01;0.01;0.00;0.00;0.00;0.00;0.00;0.00;0.00 dgv40e203;dgv93e55 15:20016329-23487546;15:20167087-22869764 0.1500 dgv40e203;dgv94e55 15:20016329-23487546;15:20167087-23222284 0.1000 15:20037886-21236662 DDD:43986;15:20167087-21200251 dgv91e55;15:20167087-22869764 dgv93e55;chr15:20198164-20894589 dbVar;15:20388742-22207639 TS40:ISCA-46686;15:20556528-20624827 DDD:44039;chr15:20598942-20625797 dbVar;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20650251-20710056 nsv514763;15:20686000-20711550 gnomAD-SV_v2.1_DUP_15_39411;15:20717000-20724000 gnomAD-SV_v2.1_DUP_15_39413;15:20749534-20773538 DDD:44053;chr15:20760182-20760295 dbVar;chr15:20783000-20799000 dbVar;chr15:20786000-20827000 dbVar;chr15:20846721-20867075 dbVar;15:20846722-20867075 1000g;15:20846722-20867075 1000g... 15:20016329-23487546 dgv40e203;15:20144627-21266621 DDD:43992;15:20167087-22588036 dgv92e55;15:20182203-22608281 DDD:44001;15:20203950-22588019 dgv2191n100;15:20550641-20637800 nsv514762;15:20575412-20599635 DDD:44041;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 dgv430e214;chr15:20686000-20711550 dbVar;chr15:20717000-20724000 dbVar;15:20746872-20747023 DDD:44052;15:20751226-21293606 esv3892595;15:20779661-20885221 DDD:44055;15:20783000-20799000 gnomAD-SV_v2.1_DUP_15_39419;15:20786000-20827000 gnomAD-SV_v2.1_DUP_15_39420;15:20846722-20867075 1000g;15:20846722-20867075 1000g... 15:20144627-21266621 DDD:43992;15:20167090-22588036 dgv96e55;15:20396654-20496584 DDD:44013;15:20468142-20468256 DDD:44028;15:20547692-20548186 IMH;15:20575412-20599635 DDD:44041;15:20581464-20589613 esv2674516;15:20587419-20587601 gnomAD-SV_v2.1_DEL_15_145824;15:20698000-20706500 gnomAD-SV_v2.1_DEL_15_145825;chr15:20729175-20745525 dbVar;15:20749534-20773538 DDD:44053;chr15:20781000-20811000 dbVar;chr15:20820627-20821162 dbVar;chr15:20820696-20820748 dbVar;chr15:20891428-20891785 dbVar;chr15:20976350-20994050 dbVar;15:21042050-21056300 HI40:ISCA-46469;15:21042050-21056300 gnomAD-SV_v2.1_DEL_15_145837;chr15:21200932-21201488 dbVar;15:21321039-21325126 DDD:44088... 15:20016329-23487546 dgv40e203;15:20167087-23222284 dgv94e55;15:20182203-22608281 DDD:44001;chr15:20436850-20437443 dbVar;chr15:20511834-20511893 dbVar;15:20556528-20624827 DDD:44039;15:20581414-20589751 IMH;chr15:20587419-20587601 dbVar;chr15:20698000-20706500 dbVar;15:20729175-20745525 HI40:ISCA-46468;chr15:20732300-20738500 dbVar;15:20779661-20885221 DDD:44055;chr15:20806100-20823500 dbVar;15:20820627-20821162 gnomAD-SV_v2.1_DEL_15_145830;chr15:20881220-20881325 dbVar;15:20945597-20946011 esv2664547;chr15:21017763-21017994 dbVar;chr15:21042050-21056300 dbVar;15:21069662-21311925 DDD:44068;chr15:21282800-21314300 dbVar... 650272;863409;230;2184774;679816;647783;656664;688870;893394;681561;683397;680362;846716;872413;658002;669462;670005;652017;920564;1571937;1923126;2037878;3089073;1104581;1530844;2453908;3049079;1892580;669650;674986;653193;696167;2579336;702830;2734909;1080050;1597023;2373586;2580364;2726476;2754714;661971;679225;1494768;1799616;1254151;670502;658452;2684440;1935900;1278559;... loss;gain 0.380 0.455 15:22765220-22765620;15:22765771-22766019 L1MC4;L2 15:20345908-20498625;15:20390971-20432871 15:22754054-22770109 15:20200401-22365100 High Signal Region 93.81 2.22375841006203 2.58284576037233 8 3.5277e-01 5.7189e-01 -1.0 1A (cf Gene_count, RE_gene, +0.00);2D (cf B_gain_source, -1.00);2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00);3A (26 genes, +0.00);5F (+0.00) 1 15_20432852_22765687_DUP_1 15 20432852 22765687 2332835 DUP Benign NA split q11.1 CHEK2P2 NR_038836 1 20487996 20496811 8815 0 0 no 6 txStart-txEnd UTR 20487996 20496811 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;dbVar;dgv2191n100;dgv40e203;dgv91e55;dgv92e55;dgv93e55 15:20016329-23487546;15:20037886-21236662;15:20144627-21266621;15:20167087-21200251;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;chr15:20198164-20894589;15:20203950-22588019;15:20388742-22207639 0.3900 DDD:43992;DDD:44001;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20144627-21266621;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281 0.2710 646096 full=1 15_20432852_22765687_DUP_1 15 20432852 22765687 2332835 DUP Benign NA split q11.1-q11.2 HERC2P3 NR_036432 1 20613648 20711433 97785 0 0 no 26 txStart-txEnd UTR 20613648 20711433 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;dbVar;dgv2191n100;dgv40e203;dgv91e55;dgv92e55;dgv93e55 15:20016329-23487546;15:20037886-21236662;15:20144627-21266621;15:20167087-21200251;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;chr15:20198164-20894589;15:20203950-22588019;15:20388742-22207639 0.3900 DDD:43992;DDD:44001;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20144627-21266621;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281 0.2710 283755 full=1 15_20432852_22765687_DUP_1 15 20432852 22765687 2332835 DUP Benign NA split q11.2 GOLGA6L6 NM_001145004 2 20737093 20747114 10021 2175 100 no 11 txStart-txEnd 5'UTR-3'UTR 20737093 20747114 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;dbVar;dgv2191n100;dgv40e203;dgv91e55;dgv92e55;dgv93e55 15:20016329-23487546;15:20037886-21236662;15:20144627-21266621;15:20167087-21200251;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;chr15:20198164-20894589;15:20203950-22588019;15:20388742-22207639 0.3900 DDD:43992;DDD:44001;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20144627-21266621;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281 0.2710 93.81 0.630577750419089 0.0606178603183018 727832 8 2.2875e-19 8.6864e-02 full=1 @@ -448,7 +448,7 @@ X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA spl 15_20432852_22765687_DUP_1 15 20432852 22765687 2332835 DUP Benign NA split q11.2 MIR4509-1 NR_039732 1 22675147 22675241 94 0 0 no 1 txStart-txEnd UTR 22675147 22675241 DDD:44147;DDD:44168;dbVar;dgv40e203;dgv93e55 15:20016329-23487546;15:20167087-22869764;15:22519942-22726364;chr15:22646309-22760311;15:22650162-22738662;chr15:22670204-22760311 0.1500 DDD:44147;DDD:44168;dgv40e203;dgv94e55 15:20016329-23487546;15:20167087-23222284;15:22519942-22726364;15:22650162-22738662 0.1000 IMH 15:22658037-28688749 0.1570 100616223 full=1 15_20432852_22765687_DUP_1 15 20432852 22765687 2332835 DUP Benign NA split q11.2 GOLGA8DP NR_027407 1 22702284 22715728 13444 0 0 no 18 txStart-txEnd UTR 22702284 22715728 DDD:44147;DDD:44168;dbVar;dgv40e203;dgv93e55 15:20016329-23487546;15:20167087-22869764;15:22519942-22726364;chr15:22646309-22760311;15:22650162-22738662;chr15:22670204-22760311 0.1500 DDD:44147;DDD:44168;dgv40e203;dgv94e55 15:20016329-23487546;15:20167087-23222284;15:22519942-22726364;15:22650162-22738662 0.1000 IMH 15:22658037-28688749 0.1570 100132979 full=1 15_20432852_22765687_DUP_1 15 20432852 22765687 2332835 DUP Benign NA split q11.2 GOLGA6L1 NM_001001413 3 22736245 22746002 9757 2007 100 no 9 txStart-txEnd 5'UTR-3'UTR 22736245 22746002 dbVar;dgv40e203;dgv93e55 15:20016329-23487546;15:20167087-22869764;chr15:22646309-22760311;chr15:22670204-22760311 0.1500 dgv40e203;dgv94e55 15:20016329-23487546;15:20167087-23222284 0.1000 IMH 15:22658037-28688749 0.1570 93.48 283767 8 2.3586e-12 full=1 -15_20564609_22409391_DEL_1 15 20564609 22409391 -1844782 DEL Benign NA full q11.1-q11.2 HERC2P3;GOLGA6L6;GOLGA8CP;NBEAP1;MIR3118-2;POTEB2;MIR5701-1;LINC01193;FAM30C;LOC646214;CXADRP2;POTEB;NF1P2;LINC02203;OR4M2-OT1;OR4M2;OR4N4 CHEK2P2 OR4N3P 17 ADAM22 (morbid/RE=mTL_miRNA);ALPI (morbid/RE=mTL_miRNA);CA12 (morbid/RE=mTL_miRNA);CDKN1B (HI=3/morbid/RE=mTL_miRNA);DICER1 (HI=3/morbid/RE=mTL_miRNA);EDAR (morbid/RE=mTL_miRNA);EGLN1 (morbid/RE=mTL_miRNA);ERBB3 (morbid/RE=mTL_miRNA);GABRB2 (morbid/RE=mTL_miRNA);GATA6 (HI=3/morbid/RE=mTL_miRNA);HSPD1 (morbid/RE=mTL_miRNA);IL6ST (morbid/RE=mTL_miRNA);INF2 (morbid/RE=mTL_miRNA);ISCU (morbid/RE=mTL_miRNA);KAT6B (HI=3/morbid/RE=mTL_miRNA);KCNJ10 (morbid/RE=mTL_miRNA);KLHL3 (morbid/RE=mTL_miRNA);KMT2D (HI=3/morbid/RE=mTL_miRNA);LRIG2 (morbid/RE=mTL_miRNA);MAGEL2 (morbid/RE=ABC_enhancer);MAPKAPK5 (morbid/RE=mTL_miRNA);MKRN3 (morbid/RE=ABC_enhancer);NDUFS1 (morbid/RE=mTL_miRNA);NIPA1 (morbid/RE=ABC_enhancer);NPM1 (morbid/RE=mTL_miRNA);NR4A3 (morbid/RE=mTL_miRNA);PEX26 (morbid/RE=mTL_miRNA);PIGP (morbid/RE=mTL_miRNA);POT1 (morbid/RE=mTL_miRNA);PRLR (morbid/RE=mTL_miRNA);PURA (HI=3/morbid/RE=mTL_miRNA);RAC3 (morbid/RE=mTL_miRNA);SH2D1A (HI=3/morbid/RE=mTL_miRNA);SKI (morbid/RE=mTL_miRNA);SLC6A6 (morbid/RE=mTL_miRNA);SLC7A14 (morbid/RE=mTL_miRNA);SLC7A7 (morbid/RE=mTL_miRNA);SMAD4 (HI=3/morbid/RE=mTL_miRNA);SMAD6 (morbid/RE=mTL_miRNA);SMOC1 (morbid/RE=mTL_miRNA);SMOC2 (morbid/RE=mTL_miRNA);SOX17 (morbid/RE=mTL_miRNA);TULP1 (morbid/RE=mTL_miRNA);USP48 (morbid/RE=mTL_miRNA);ZBTB18 (HI=3/morbid/RE=mTL_miRNA);ZNF711 (morbid/RE=mTL_miRNA) dbVar:nssv15172447;dbVar:nssv15149081;dbVar:nssv15148902;dbVar:nssv15125410;dbVar:nssv15127689;dbVar:nssv15127462;dbVar:nssv15126524;dbVar:nssv15124656;dbVar:nssv15127659;dbVar:nssv15126021;dbVar:nssv15172190;dbVar:nssv15150569;dbVar:nssv15147052;dbVar:nssv15145742;dbVar:nssv15147053;dbVar:nssv15175556;dbVar:nssv15145744;dbVar:nssv15774514;dbVar:nssv15148785;dbVar:nssv15605894;dbVar:nssv15149135;dbVar:nssv15148575;dbVar:nssv15147687;dbVar:nssv15605895;dbVar:nssv15147058;dbVar:nssv15145747;dbVar:nssv15146452;dbVar:nssv15149084;dbVar:nssv15147355;dbVar:nssv15149616;dbVar:nssv15147801;dbVar:nssv15146958;dbVar:nssv15149124;dbVar:nssv15123304;dbVar:nssv15147513;dbVar:nssv15127079;dbVar:nssv15605897;dbVar:nssv15605899 15:20016812-102493540;15:20044343-28924405;15:20045835-32914140;15:20063341-102521392;15:20063341-29093456;15:20063341-29209620;15:20063341-30448351;15:20063341-32439302;15:20063341-32942613;15:20063341-32986584;15:20071674-102461162;15:20071674-30737344;15:20085003-28947309;15:20085003-29210720;15:20085004-28178425;15:20102541-29031690;15:20110723-28408897;15:20179528-32998070;15:20190549-28406650;15:20190549-30300265;15:20190549-32386089;15:20190549-32917801;15:20190549-32917857;15:20191653-28525310;15:20207714-30641396;15:20207714-32413623;15:20251769-28631040;15:20306550-26208861;15:20686197-30509384;15:20733396-102511616;15:20733396-28406650;15:20733396-28406709;15:20848461-27662530;15:21129985-28535266;15:22304597-28577787;15:22318645-29209620;15:22382861-32396457;15:22383300-32917689 2.24;20.77;14.34;2.24;20.43;20.17;17.76;14.91;14.32;14.27;2.24;17.30;20.82;20.22;22.79;20.66;22.23;14.39;22.45;18.25;15.13;14.49;14.49;22.14;17.68;15.11;22.02;31.26;17.54;2.05;21.84;21.84;22.91;17.28;1.67;1.32;0.26;0.25 dbVar:nssv16865885;dbVar:nssv18326337;dbVar:nssv15605896;dbVar:nssv15123310;dbVar:nssv18841918;dbVar:nssv16208656;dbVar:nssv18792791;dbVar:nssv16215320;dbVar:nssv15147060 15:20612841-23272733;15:20739498-28566579;15:20848751-32925141;15:21129985-32514926;15:21172301-26208861;15:21903816-23272733;15:22070541-23262343;15:22299435-23226254;15:22318598-28940098 67.54;21.33;12.92;11.24;24.56;36.93;28.43;11.86;1.37 DDD:44001;dgv2191n100;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019 0.3900 DDD:44001;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281 0.1300 15:20037886-21236662 DDD:43986;15:20167087-21200251 dgv91e55;15:20167087-22869764 dgv93e55;chr15:20198164-20894589 dbVar;15:20388742-22207639 TS40:ISCA-46686;15:20556528-20624827 DDD:44039;chr15:20598942-20625797 dbVar;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20650251-20710056 nsv514763;15:20686000-20711550 gnomAD-SV_v2.1_DUP_15_39411;15:20717000-20724000 gnomAD-SV_v2.1_DUP_15_39413;15:20749534-20773538 DDD:44053;chr15:20760182-20760295 dbVar;chr15:20783000-20799000 dbVar;chr15:20786000-20827000 dbVar;chr15:20846721-20867075 dbVar;15:20846722-20867075 1000g;15:20846722-20867075 1000g... 15:20016329-23487546 dgv40e203;15:20144627-21266621 DDD:43992;15:20167087-22588036 dgv92e55;15:20182203-22608281 DDD:44001;15:20203950-22588019 dgv2191n100;15:20550641-20637800 nsv514762;15:20575412-20599635 DDD:44041;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 dgv430e214;chr15:20686000-20711550 dbVar;chr15:20717000-20724000 dbVar;15:20746872-20747023 DDD:44052;15:20751226-21293606 esv3892595;15:20779661-20885221 DDD:44055;15:20783000-20799000 gnomAD-SV_v2.1_DUP_15_39419;15:20786000-20827000 gnomAD-SV_v2.1_DUP_15_39420;15:20846722-20867075 1000g;15:20846722-20867075 1000g... 15:20144627-21266621 DDD:43992;15:20167090-22588036 dgv96e55;15:20556528-20624827 DDD:44039;15:20581414-20589751 IMH;chr15:20587419-20587601 dbVar;chr15:20698000-20706500 dbVar;15:20729175-20745525 HI40:ISCA-46468;chr15:20732300-20738500 dbVar;15:20779661-20885221 DDD:44055;chr15:20806100-20823500 dbVar;15:20820627-20821162 gnomAD-SV_v2.1_DEL_15_145830;chr15:20881220-20881325 dbVar;15:20945597-20946011 esv2664547;chr15:21017763-21017994 dbVar;chr15:21042050-21056300 dbVar;15:21069662-21311925 DDD:44068;chr15:21282800-21314300 dbVar;chr15:21348205-21348677 dbVar;chr15:21888050-21888102 dbVar;15:21904679-21949433 DDD:44097... 15:20016329-23487546 dgv40e203;15:20167087-23222284 dgv94e55;15:20182203-22608281 DDD:44001;15:20575412-20599635 DDD:44041;15:20581464-20589613 esv2674516;15:20587419-20587601 gnomAD-SV_v2.1_DEL_15_145824;15:20698000-20706500 gnomAD-SV_v2.1_DEL_15_145825;chr15:20729175-20745525 dbVar;15:20749534-20773538 DDD:44053;chr15:20781000-20811000 dbVar;chr15:20820627-20821162 dbVar;chr15:20820696-20820748 dbVar;chr15:20891428-20891785 dbVar;chr15:20976350-20994050 dbVar;15:21042050-21056300 HI40:ISCA-46469;15:21042050-21056300 gnomAD-SV_v2.1_DEL_15_145837;chr15:21200932-21201488 dbVar;15:21321039-21325126 DDD:44088;15:21399090-22661412 DDD:44096;15:21888050-21888102 gnomAD-SV_v2.1_DEL_15_145844... 1015796;1015998;1016239;605205;842984;846405;864067;864398;865855;883822;909114;909684;918629;923436;603901;908486;856653;857304;863410;922332;818827;780982;926115;606172;606967;819083;901378;910495;910633;897929;930366;602746;1016982;1017230;1018200;1018423;1018674;604540;781874;811310;820414;834769;862113;862353;864719;865161;867169;868098;869021;880074;881307;... gain;loss 0.310 0.275 15:20564282-20581643 15:22292726-22423285 15:20200401-22365100 High Signal Region 15:22387401-22749100 Low Mappability 93.81 2.22375841006203 2.58284576037233 8 3.5277e-01 5.7189e-01 -1.0 1A (cf Gene_count, RE_gene, +0.00);2F/4O (cf B_loss_source, -1.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);3A (17 genes, +0.00);5F (+0.00) 1 +15_20564609_22409391_DEL_1 15 20564609 22409391 -1844782 DEL Benign NA full q11.1-q11.2 HERC2P3;GOLGA6L6;GOLGA8CP;NBEAP1;MIR3118-2;POTEB2;MIR5701-1;LINC01193;FAM30C;LOC646214;CXADRP2;POTEB;NF1P2;LINC02203;OR4M2-OT1;OR4M2;OR4N4 CHEK2P2 OR4N3P 17 ADAM22 (morbid/RE=mTL_miRNA);CA12 (morbid/RE=mTL_miRNA);CDKN1B (HI=3/morbid/RE=mTL_miRNA);DICER1 (HI=3/morbid/RE=mTL_miRNA);EDAR (morbid/RE=mTL_miRNA);EGLN1 (morbid/RE=mTL_miRNA);ERBB3 (morbid/RE=mTL_miRNA);GABRB2 (morbid/RE=mTL_miRNA);GATA6 (HI=3/morbid/RE=mTL_miRNA);HSPD1 (morbid/RE=mTL_miRNA);IL6ST (morbid/RE=mTL_miRNA);INF2 (morbid/RE=mTL_miRNA);ISCU (morbid/RE=mTL_miRNA);KAT6B (HI=3/morbid/RE=mTL_miRNA);KCNJ10 (morbid/RE=mTL_miRNA);KLHL3 (morbid/RE=mTL_miRNA);KMT2D (HI=3/morbid/RE=mTL_miRNA);LRIG2 (morbid/RE=mTL_miRNA);MAGEL2 (morbid/RE=ABC_enhancer);MAPKAPK5 (morbid/RE=mTL_miRNA);MKRN3 (morbid/RE=ABC_enhancer);NDUFS1 (morbid/RE=mTL_miRNA);NIPA1 (morbid/RE=ABC_enhancer);NPM1 (morbid/RE=mTL_miRNA);PEX26 (morbid/RE=mTL_miRNA);PIGP (morbid/RE=mTL_miRNA);POT1 (morbid/RE=mTL_miRNA);PRLR (morbid/RE=mTL_miRNA);PURA (HI=3/morbid/RE=mTL_miRNA);RAC3 (morbid/RE=mTL_miRNA);SH2D1A (HI=3/morbid/RE=mTL_miRNA);SKI (morbid/RE=mTL_miRNA);SLC6A6 (morbid/RE=mTL_miRNA);SLC7A14 (morbid/RE=mTL_miRNA);SLC7A7 (morbid/RE=mTL_miRNA);SMAD4 (HI=3/morbid/RE=mTL_miRNA);SMAD6 (morbid/RE=mTL_miRNA);SMOC1 (morbid/RE=mTL_miRNA);SMOC2 (morbid/RE=mTL_miRNA);SOX17 (morbid/RE=mTL_miRNA);TULP1 (morbid/RE=mTL_miRNA);USP48 (morbid/RE=mTL_miRNA);ZBTB18 (HI=3/morbid/RE=mTL_miRNA);ZNF711 (morbid/RE=mTL_miRNA) dbVar:nssv15172447;dbVar:nssv15149081;dbVar:nssv15148902;dbVar:nssv15125410;dbVar:nssv15127689;dbVar:nssv15127462;dbVar:nssv15126524;dbVar:nssv15124656;dbVar:nssv15127659;dbVar:nssv15126021;dbVar:nssv15172190;dbVar:nssv15150569;dbVar:nssv15147052;dbVar:nssv15145742;dbVar:nssv15147053;dbVar:nssv15175556;dbVar:nssv15145744;dbVar:nssv15774514;dbVar:nssv15148785;dbVar:nssv15605894;dbVar:nssv15149135;dbVar:nssv15148575;dbVar:nssv15147687;dbVar:nssv15605895;dbVar:nssv15147058;dbVar:nssv15145747;dbVar:nssv15146452;dbVar:nssv15149084;dbVar:nssv15147355;dbVar:nssv15149616;dbVar:nssv15147801;dbVar:nssv15146958;dbVar:nssv15149124;dbVar:nssv15123304;dbVar:nssv15147513;dbVar:nssv15127079;dbVar:nssv15605897;dbVar:nssv15605899 15:20016812-102493540;15:20044343-28924405;15:20045835-32914140;15:20063341-102521392;15:20063341-29093456;15:20063341-29209620;15:20063341-30448351;15:20063341-32439302;15:20063341-32942613;15:20063341-32986584;15:20071674-102461162;15:20071674-30737344;15:20085003-28947309;15:20085003-29210720;15:20085004-28178425;15:20102541-29031690;15:20110723-28408897;15:20179528-32998070;15:20190549-28406650;15:20190549-30300265;15:20190549-32386089;15:20190549-32917801;15:20190549-32917857;15:20191653-28525310;15:20207714-30641396;15:20207714-32413623;15:20251769-28631040;15:20306550-26208861;15:20686197-30509384;15:20733396-102511616;15:20733396-28406650;15:20733396-28406709;15:20848461-27662530;15:21129985-28535266;15:22304597-28577787;15:22318645-29209620;15:22382861-32396457;15:22383300-32917689 2.24;20.77;14.34;2.24;20.43;20.17;17.76;14.91;14.32;14.27;2.24;17.30;20.82;20.22;22.79;20.66;22.23;14.39;22.45;18.25;15.13;14.49;14.49;22.14;17.68;15.11;22.02;31.26;17.54;2.05;21.84;21.84;22.91;17.28;1.67;1.32;0.26;0.25 dbVar:nssv16865885;dbVar:nssv18326337;dbVar:nssv15605896;dbVar:nssv15123310;dbVar:nssv18841918;dbVar:nssv16208656;dbVar:nssv18792791;dbVar:nssv16215320;dbVar:nssv15147060 15:20612841-23272733;15:20739498-28566579;15:20848751-32925141;15:21129985-32514926;15:21172301-26208861;15:21903816-23272733;15:22070541-23262343;15:22299435-23226254;15:22318598-28940098 67.54;21.33;12.92;11.24;24.56;36.93;28.43;11.86;1.37 DDD:44001;dgv2191n100;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019 0.3900 DDD:44001;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281 0.1300 15:20037886-21236662 DDD:43986;15:20167087-21200251 dgv91e55;15:20167087-22869764 dgv93e55;chr15:20198164-20894589 dbVar;15:20388742-22207639 TS40:ISCA-46686;15:20556528-20624827 DDD:44039;chr15:20598942-20625797 dbVar;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20650251-20710056 nsv514763;15:20686000-20711550 gnomAD-SV_v2.1_DUP_15_39411;15:20717000-20724000 gnomAD-SV_v2.1_DUP_15_39413;15:20749534-20773538 DDD:44053;chr15:20760182-20760295 dbVar;chr15:20783000-20799000 dbVar;chr15:20786000-20827000 dbVar;chr15:20846721-20867075 dbVar;15:20846722-20867075 1000g;15:20846722-20867075 1000g... 15:20016329-23487546 dgv40e203;15:20144627-21266621 DDD:43992;15:20167087-22588036 dgv92e55;15:20182203-22608281 DDD:44001;15:20203950-22588019 dgv2191n100;15:20550641-20637800 nsv514762;15:20575412-20599635 DDD:44041;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 dgv430e214;chr15:20686000-20711550 dbVar;chr15:20717000-20724000 dbVar;15:20746872-20747023 DDD:44052;15:20751226-21293606 esv3892595;15:20779661-20885221 DDD:44055;15:20783000-20799000 gnomAD-SV_v2.1_DUP_15_39419;15:20786000-20827000 gnomAD-SV_v2.1_DUP_15_39420;15:20846722-20867075 1000g;15:20846722-20867075 1000g... 15:20144627-21266621 DDD:43992;15:20167090-22588036 dgv96e55;15:20556528-20624827 DDD:44039;15:20581414-20589751 IMH;chr15:20587419-20587601 dbVar;chr15:20698000-20706500 dbVar;15:20729175-20745525 HI40:ISCA-46468;chr15:20732300-20738500 dbVar;15:20779661-20885221 DDD:44055;chr15:20806100-20823500 dbVar;15:20820627-20821162 gnomAD-SV_v2.1_DEL_15_145830;chr15:20881220-20881325 dbVar;15:20945597-20946011 esv2664547;chr15:21017763-21017994 dbVar;chr15:21042050-21056300 dbVar;15:21069662-21311925 DDD:44068;chr15:21282800-21314300 dbVar;chr15:21348205-21348677 dbVar;chr15:21888050-21888102 dbVar;15:21904679-21949433 DDD:44097... 15:20016329-23487546 dgv40e203;15:20167087-23222284 dgv94e55;15:20182203-22608281 DDD:44001;15:20575412-20599635 DDD:44041;15:20581464-20589613 esv2674516;15:20587419-20587601 gnomAD-SV_v2.1_DEL_15_145824;15:20698000-20706500 gnomAD-SV_v2.1_DEL_15_145825;chr15:20729175-20745525 dbVar;15:20749534-20773538 DDD:44053;chr15:20781000-20811000 dbVar;chr15:20820627-20821162 dbVar;chr15:20820696-20820748 dbVar;chr15:20891428-20891785 dbVar;chr15:20976350-20994050 dbVar;15:21042050-21056300 HI40:ISCA-46469;15:21042050-21056300 gnomAD-SV_v2.1_DEL_15_145837;chr15:21200932-21201488 dbVar;15:21321039-21325126 DDD:44088;15:21399090-22661412 DDD:44096;15:21888050-21888102 gnomAD-SV_v2.1_DEL_15_145844... 1015796;1015998;1016239;605205;842984;846405;864067;864398;865855;883822;909114;909684;918629;923436;603901;908486;856653;857304;863410;922332;818827;780982;926115;606172;606967;819083;901378;910495;910633;897929;930366;602746;1016982;1017230;1018200;1018423;1018674;604540;781874;811310;820414;834769;862113;862353;864719;865161;867169;868098;869021;880074;881307;... gain;loss 0.310 0.275 15:20564282-20581643 15:22292726-22423285 15:20200401-22365100 High Signal Region 15:22387401-22749100 Low Mappability 93.81 2.22375841006203 2.58284576037233 8 3.5277e-01 5.7189e-01 -1.0 1A (cf Gene_count, RE_gene, +0.00);2F/4O (cf B_loss_source, -1.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);3A (17 genes, +0.00);5F (+0.00) 1 15_20564609_22409391_DEL_1 15 20564609 22409391 -1844782 DEL Benign NA split q11.1-q11.2 HERC2P3 NR_036432 1 20613648 20711433 97785 0 0 no 26 txStart-txEnd UTR 20613648 20711433 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;dbVar;dgv2191n100;dgv40e203;dgv91e55;dgv92e55;dgv93e55 15:20016329-23487546;15:20037886-21236662;15:20144627-21266621;15:20167087-21200251;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;chr15:20198164-20894589;15:20203950-22588019;15:20388742-22207639 0.3900 DDD:43992;DDD:44001;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20144627-21266621;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281 0.2710 283755 full=1 15_20564609_22409391_DEL_1 15 20564609 22409391 -1844782 DEL Benign NA split q11.2 GOLGA6L6 NM_001145004 2 20737093 20747114 10021 2175 100 no 11 txStart-txEnd 5'UTR-3'UTR 20737093 20747114 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;dbVar;dgv2191n100;dgv40e203;dgv91e55;dgv92e55;dgv93e55 15:20016329-23487546;15:20037886-21236662;15:20144627-21266621;15:20167087-21200251;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;chr15:20198164-20894589;15:20203950-22588019;15:20388742-22207639 0.3900 DDD:43992;DDD:44001;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20144627-21266621;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281 0.2710 93.81 0.630577750419089 0.0606178603183018 727832 8 2.2875e-19 8.6864e-02 full=1 15_20564609_22409391_DEL_1 15 20564609 22409391 -1844782 DEL Benign NA split q11.2 GOLGA8CP NR_027411 2 20767673 20781026 13353 0 0 no 18 txStart-txEnd UTR 20767673 20781026 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;dbVar;dgv2191n100;dgv40e203;dgv91e55;dgv92e55;dgv93e55;esv3892595 15:20016329-23487546;15:20037886-21236662;15:20144627-21266621;15:20167087-21200251;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;chr15:20198164-20894589;15:20203950-22588019;15:20388742-22207639;15:20751226-21293606 0.3900 DDD:43992;DDD:44001;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20144627-21266621;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281 0.2710 729786 full=1 @@ -477,7 +477,7 @@ X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA spl 16_32471626_33487672_DEL_1 16 32471626 33487672 -1016046 DEL Benign NA split p11.2 LOC107987386 NR_171660 1 33298270 33319296 21026 0 0 no 5 txStart-txEnd UTR 33298270 33319296 DDD:47058;DDD:47062;DDD:47113;DDD:47114;DDD:47116;IMH;dgv50e203;dgv821e212 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32345385-33344188;16:32511180-33912324;16:33204449-33378738;16:33230271-33739925;16:33270420-33827235 0.5150 DDD:47058;DDD:47062;DDD:47113;DDD:47114;dgv50e203 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:33204449-33378738;16:33230271-33739925 0.1243 IMH 16:24121264-80276578;16:29238285-88227116;16:32354183-33512427;16:32354247-33512560 0.4996 full=1 16_34493207_34702366_DUP_1 16 34493207 34702366 209159 DUP Benign NA full p11.2-p11.1 LINC01566 LOC112268173 FRG2DP 1 dbVar:nssv15158812;dbVar:nssv15148703;dbVar:nssv15150639;nssv15151292;dbVar:nssv15158813;dbVar:nssv15158224;dbVar:nssv15133058;dbVar:nssv15126469;dbVar:nssv15150356 16:61452-90294632;16:69194-90274381;16:85882-90155062;16:88166-90163275;16:88166-90274695;16:30703234-35147508;16:31986099-90294753;16:34197493-64509054 0.23;0.23;0.23;0.23;0.23;4.71;0.36;0.69 1000g;DDD:47173;DDD:47179;TS40:ISCA-37481;dbVar;dgv117e55;dgv2962n100;dgv51e203;dgv824e212;esv2421698;esv3638500;gnomAD-SV_v2.1_DUP_16_42078;nsv514804;nsv516385 16:34197352-35283226;16:34202089-35147508;16:34259806-34805859;16:34410570-34796531;16:34441796-34784591;16:34445084-34774280;16:34456525-34736855;chr16:34456676-34760206;chr16:34457085-34712399;16:34457086-34712399;16:34457086-34712399;chr16:34465000-34757000;16:34465000-34757000;16:34470705-34757071;16:34471852-34731191;16:34476781-34747070 0.1875 HI40:ISCA-37481;dbVar 16:34202089-35147508;chr16:34457085-34712399 0.01 IMH 16:24121264-80276578;16:29238285-88227116;16:34180655-46447887;16:34188883-46442460 0.4996 16:34197352-35283226 dgv51e203;16:34259806-34805859 nsv516385;16:34441796-34784591 dgv2962n100;16:34456525-34736855 DDD:47173;chr16:34457085-34712399 dbVar;16:34457086-34712399 esv3638500;16:34465000-34757000 gnomAD-SV_v2.1_DUP_16_42078;chr16:34468902-34546672 dbVar;16:34471852-34731191 nsv514804;chr16:34489945-34494742 dbVar;chr16:34500158-34528628 dbVar;chr16:34528628-34542969 dbVar;chr16:34542969-34544540 dbVar;chr16:34545266-34546672 dbVar;chr16:34546672-34548048 dbVar;chr16:34548048-34575188 dbVar;chr16:34548198-34564393 dbVar;chr16:34556315-34556698 dbVar;chr16:34565920-34575188 dbVar;chr16:34572795-34661165 dbVar... chr16:34189000-34557000 dbVar;16:34202089-35147508 TS40:ISCA-37481;16:34410570-34796531 dgv117e55;16:34445084-34774280 dgv824e212;chr16:34456676-34760206 dbVar;16:34457086-34712399 1000g;chr16:34465000-34757000 dbVar;chr16:34468902-34494742 dbVar;16:34470705-34757071 esv2421698;16:34476781-34747070 DDD:47179;chr16:34492359-34494742 dbVar;chr16:34507956-34508548 dbVar;chr16:34528628-34544148 dbVar;chr16:34544540-34545266 dbVar;chr16:34545866-34548048 dbVar;chr16:34548048-34548198 dbVar;chr16:34548198-34550637 dbVar;chr16:34552087-34564393 dbVar;chr16:34565920-34571271 dbVar;16:34567146-34656231 DDD:47183... chr16:34457085-34712399 dbVar;chr16:34513700-34518239 dbVar;chr16:34521342-34521422 dbVar;chr16:34530127-34530478 dbVar;chr16:34539678-34540320 dbVar;chr16:34563433-34571562 dbVar;chr16:34590029-34590133 dbVar;chr16:34590961-34591436 dbVar;chr16:34604209-34604282 dbVar;chr16:34659877-34659999 dbVar;chr16:34666766-34667080 dbVar;chr16:34687510-34703789 dbVar 16:34202089-35147508 HI40:ISCA-37481;chr16:34502223-34502386 dbVar;chr16:34515750-34515813 dbVar;chr16:34530038-34530588 dbVar;chr16:34539652-34540292 dbVar;16:34539693-34540322 DDD:47181;chr16:34568138-34568693 dbVar;chr16:34590565-34590648 dbVar;chr16:34600723-34610152 dbVar;chr16:34655648-34655724 dbVar;chr16:34664288-34664480 dbVar;chr16:34684662-34685228 dbVar 0.385 0.335 -1.0 1A (cf Gene_count, RE_gene, +0.00);2D (cf B_gain_source, -1.00);2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00);3A (1 gene, +0.00);5F (+0.00) 1 16_34493207_34702366_DUP_1 16 34493207 34702366 209159 DUP Benign NA split p11.2-p11.1 LINC01566 NR_027080 2 34597786 34626084 28298 0 0 no 7 txStart-txEnd UTR 34597786 34626084 1000g;DDD:47173;DDD:47179;DDD:47183;TS40:ISCA-37481;dbVar;dgv117e55;dgv2962n100;dgv51e203;dgv824e212;esv2421698;esv3638500;gnomAD-SV_v2.1_DUP_16_42078;gnomAD-SV_v2.1_DUP_16_42081;nsv514804;nsv516385 16:34197352-35283226;16:34202089-35147508;16:34259806-34805859;16:34410570-34796531;16:34441796-34784591;16:34445084-34774280;16:34456525-34736855;chr16:34456676-34760206;chr16:34457085-34712399;16:34457086-34712399;16:34457086-34712399;chr16:34465000-34757000;16:34465000-34757000;16:34470705-34757071;16:34471852-34731191;16:34476781-34747070;16:34567146-34656231;chr16:34572795-34661165;16:34572795-34661165;chr16:34579398-34644534;chr16:34579398-34687954 0.1875 HI40:ISCA-37481;dbVar 16:34202089-35147508;chr16:34457085-34712399 0.01 IMH 16:24121264-80276578;16:29238285-88227116;16:34180655-46447887;16:34188883-46442460 0.4996 283914 full=1 -17_34437476_34817481_DUP_1 17 34437476 34817481 380005 DUP Benign NA full q12 TBC1D3B;CCL3L3;CCL4L2;TBC1D3I;CCL3L1;TBC1D3H;TBC1D3F CCL4 ZNHIT3 7 CCL14 (morbid/RE=ABC_enhancer);PEX12 (morbid/RE=GH_enhancer);PIGW (morbid/RE=EA_enhancer);ZNHIT3 (morbid/RE=ABC_enhancer+GH_enhancer) 17q12 recurrent (RCAD syndrome) region (includes HNF1B) dbVar:nssv15149908;nssv15152170;dbVar:nssv15159024;dbVar:nssv15160732;dbVar:nssv15159027;dbVar:nssv15127236;dbVar:nssv15775117;dbVar:nssv15132421;dbVar:nssv15132422;dbVar:nssv15155541;dbVar:nssv18330713;dbVar:nssv15155542;dbVar:nssv15605916;dbVar:nssv16736632;dbVar:nssv15138685;dbVar:nssv15142873;dbVar:nssv15141421;dbVar:nssv15132229;nssv15139703;dbVar:nssv15125411;dbVar:nssv15125622;dbVar:nssv15130152;nssv15132345;nssv15139691;dbVar:nssv15135915;dbVar:nssv15124805;dbVar:nssv18842005;TS3:ISCA-37432;dbVar:nssv15132164;dbVar:nssv17649867;dbVar:nssv16215252;dbVar:nssv15123756;dbVar:nssv15133519;dbVar:nssv16736603;dbVar:nssv15135870 17:527-81041938;17:7215-81058310;17:8548-81060040;17:12345-81057996;17:16757564-81048189;17:21690654-38772647;17:34310999-36297053;17:34360169-36209228;17:34425363-36283612;17:34425364-36404555;17:34426245-36225988;17:34437476-36214026;17:34437476-36243028;17:34437483-36244358;17:34437483-36350584;17:34437483-36404555;17:34508118-36248918;17:34526602-36188734;17:34604365-36231917;17:34611353-36248918;17:34611353-36263019;17:34750819-36354738;17:34752222-36105007;17:34815073-36192489;17:34815185-36209228;17:34815467-36249366;17:34815552-36244358;17:34815552-36249800;17:34817423-36173763;17:34817423-36243028;17:34817423-36248918 0.47;0.47;0.47;0.47;0.59;2.22;19.13;20.55;20.45;19.20;21.11;21.39;21.05;21.03;19.86;19.32;17.77;17.50;13.09;12.59;12.48;4.16;4.82;0.17;0.16;0.14;0.14;0.13;0.00;0.00;0.00 17q12 recurrent (RCAD syndrome) region (includes HNF1B) dbVar:nssv18830976;dbVar:nssv15137372;dbVar:nssv8639331;dbVar:nssv15142228;dbVar:nssv15133035;dbVar:nssv17976904;dbVar:nssv15142015;dbVar:nssv15153182;dbVar:nssv15153183;dbVar:nssv15133261;dbVar:nssv15124226;dbVar:nssv15132100;nssv15139544;dbVar:nssv15127168;dbVar:nssv15133024;dbVar:nssv17955818;HI3:ISCA-37432;dbVar:nssv15149164;dbVar:nssv15129143;dbVar:nssv15130784;nssv15172799;dbVar:nssv15173493;dbVar:nssv15131818;dbVar:nssv15135737;dbVar:nssv15135591;dbVar:nssv15134619 17:30572863-35843988;17:34360169-36248859;17:34360228-36473024;17:34447114-36283612;17:34450406-36248918;17:34463924-36410559;17:34475680-36283612;17:34475680-36311009;17:34477386-36404555;17:34508118-36173763;17:34604365-36188734;17:34611353-36248918;17:34750819-81048189;17:34768967-36263019;17:34807070-36284994;17:34815073-36192489;17:34815073-36192492;17:34815552-36208392;17:34815552-36244358;17:34815552-36307189;17:34817423-36168104;17:34817423-36188700;17:34817423-36248918;17:34817423-36263019 7.21;20.12;17.99;20.17;20.41;18.16;18.91;18.62;17.65;18.57;13.45;12.59;0.14;3.25;0.70;0.17;0.17;0.14;0.14;0.13;0.00;0.00;0.00;0.00 dgv122e55 17:34426246-34870708 0.0300 IMH 17:30436599-65922464;17:32367054-60556542;17:32367223-60556516;17:32367435-60556508 0.2252 chr17:34405281-34480907 dbVar;17:34416412-34496071 nsv514836;17:34424712-34477480 dgv908e212;17:34426246-34870708 dgv122e55;17:34435513-34485079 dgv3148n100;17:34435674-34621060 DDD:49237;17:34436100-34482872 1000g;17:34436100-34482872 dgv572e214;chr17:34437000-34494000 dbVar;17:34437483-34477480 dgv910e212;chr17:34438389-34594251 dbVar;17:34443777-34537005 DDD:49243;chr17:34480907-34594251 dbVar;chr17:34493000-34503000 dbVar;17:34502930-34524195 nsv514837;17:34517741-34540630 DDD:49256;17:34580927-34587273 DDD:49263;chr17:34594251-34674805 dbVar;17:34625755-34641426 DDD:49271;chr17:34726651-34808825 dbVar... 17:34387632-34629696 esv2762388;chr17:34405281-34674805 dbVar;17:34416538-34629684 dgv3144n100;17:34425364-34477387 dgv121e55;17:34431132-34484342 DDD:49235;17:34435513-34629696 esv2760467;chr17:34436099-34482872 dbVar;17:34436100-34482872 1000g;17:34436438-34780239 DDD:49240;17:34437129-34485091 esv2421587;chr17:34438389-34480907 dbVar;chr17:34438389-34666383 dbVar;chr17:34448629-34449060 dbVar;chr17:34480907-34674805 dbVar;chr17:34502750-34675848 dbVar;17:34502941-34524192 TS40:ISCA-46706;17:34538648-34540293 nsv514838;chr17:34594251-34657961 dbVar;17:34610042-34641487 nsv514839;chr17:34725848-34756800 dbVar... 17:34438323-34449809 DDD:49242;chr17:34445826-34446140 dbVar;17:34508446-34554792 dgv545e199;17:34517741-34540630 DDD:49256;chr17:34540766-34540825 dbVar;17:34580927-34587273 DDD:49263;17:34625755-34641426 DDD:49271;chr17:34642332-34642392 dbVar;17:34702019-34702094 DDD:49280;17:34762644-34775639 DDD:49288;chr17:34812000-36251000 dbVar 17:34436438-34780239 DDD:49240;17:34443777-34537005 DDD:49243;17:34446621-34447535 DDD:49246;17:34509780-34551554 HI40:ISCA-46698;chr17:34528205-34528314 dbVar;17:34540766-34540825 gnomAD-SV_v2.1_DEL_17_159956;17:34591446-34670592 dgv546e199;chr17:34629804-34629885 dbVar;17:34642332-34642392 gnomAD-SV_v2.1_DEL_17_159958;17:34750173-34796456 DDD:49284;chr17:34808750-34815000 dbVar 650936;666192;914982;843056;871448;792583;651331;1008133;1008390;1008393;1008397;1008403;1008404;1008414;1008416;1008428;1008433;1008436;940419;987474;2208771;1314448;1320799;1505611;965332;831456;791549;1587115;878636;1428723;1966753;1241176;2242284;2563085;874577;1206030;1721282;2234627;1868520;2161178;2592993;823129;719980;897048;899422;920618;881956;607486;916148;602398;892138;... loss;gain 0.435 0.515 17:34437545-34437861 7SLRNA 17:34405992-34437446;17:34405992-34437446 94.43 2.42746656950142 2.41694262394586 yes 7 3.1517e-01 6.3692e-01 -1.0 1A (cf Gene_count, RE_gene, +0.00);2D (cf B_gain_source, -1.00);2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00);3A (7 genes, +0.00);5F (+0.00) 1 +17_34437476_34817481_DUP_1 17 34437476 34817481 380005 DUP Benign NA full q12 TBC1D3B;CCL3L3;CCL4L2;TBC1D3I;CCL3L1;TBC1D3H;TBC1D3F CCL4 ZNHIT3 7 PEX12 (morbid/RE=GH_enhancer);PIGW (morbid/RE=EA_enhancer);ZNHIT3 (morbid/RE=ABC_enhancer+GH_enhancer) 17q12 recurrent (RCAD syndrome) region (includes HNF1B) dbVar:nssv15149908;nssv15152170;dbVar:nssv15159024;dbVar:nssv15160732;dbVar:nssv15159027;dbVar:nssv15127236;dbVar:nssv15775117;dbVar:nssv15132421;dbVar:nssv15132422;dbVar:nssv15155541;dbVar:nssv18330713;dbVar:nssv15155542;dbVar:nssv15605916;dbVar:nssv16736632;dbVar:nssv15138685;dbVar:nssv15142873;dbVar:nssv15141421;dbVar:nssv15132229;nssv15139703;dbVar:nssv15125411;dbVar:nssv15125622;dbVar:nssv15130152;nssv15132345;nssv15139691;dbVar:nssv15135915;dbVar:nssv15124805;dbVar:nssv18842005;TS3:ISCA-37432;dbVar:nssv15132164;dbVar:nssv17649867;dbVar:nssv16215252;dbVar:nssv15123756;dbVar:nssv15133519;dbVar:nssv16736603;dbVar:nssv15135870 17:527-81041938;17:7215-81058310;17:8548-81060040;17:12345-81057996;17:16757564-81048189;17:21690654-38772647;17:34310999-36297053;17:34360169-36209228;17:34425363-36283612;17:34425364-36404555;17:34426245-36225988;17:34437476-36214026;17:34437476-36243028;17:34437483-36244358;17:34437483-36350584;17:34437483-36404555;17:34508118-36248918;17:34526602-36188734;17:34604365-36231917;17:34611353-36248918;17:34611353-36263019;17:34750819-36354738;17:34752222-36105007;17:34815073-36192489;17:34815185-36209228;17:34815467-36249366;17:34815552-36244358;17:34815552-36249800;17:34817423-36173763;17:34817423-36243028;17:34817423-36248918 0.47;0.47;0.47;0.47;0.59;2.22;19.13;20.55;20.45;19.20;21.11;21.39;21.05;21.03;19.86;19.32;17.77;17.50;13.09;12.59;12.48;4.16;4.82;0.17;0.16;0.14;0.14;0.13;0.00;0.00;0.00 17q12 recurrent (RCAD syndrome) region (includes HNF1B) dbVar:nssv18830976;dbVar:nssv15137372;dbVar:nssv8639331;dbVar:nssv15142228;dbVar:nssv15133035;dbVar:nssv17976904;dbVar:nssv15142015;dbVar:nssv15153182;dbVar:nssv15153183;dbVar:nssv15133261;dbVar:nssv15124226;dbVar:nssv15132100;nssv15139544;dbVar:nssv15127168;dbVar:nssv15133024;dbVar:nssv17955818;HI3:ISCA-37432;dbVar:nssv15149164;dbVar:nssv15129143;dbVar:nssv15130784;nssv15172799;dbVar:nssv15173493;dbVar:nssv15131818;dbVar:nssv15135737;dbVar:nssv15135591;dbVar:nssv15134619 17:30572863-35843988;17:34360169-36248859;17:34360228-36473024;17:34447114-36283612;17:34450406-36248918;17:34463924-36410559;17:34475680-36283612;17:34475680-36311009;17:34477386-36404555;17:34508118-36173763;17:34604365-36188734;17:34611353-36248918;17:34750819-81048189;17:34768967-36263019;17:34807070-36284994;17:34815073-36192489;17:34815073-36192492;17:34815552-36208392;17:34815552-36244358;17:34815552-36307189;17:34817423-36168104;17:34817423-36188700;17:34817423-36248918;17:34817423-36263019 7.21;20.12;17.99;20.17;20.41;18.16;18.91;18.62;17.65;18.57;13.45;12.59;0.14;3.25;0.70;0.17;0.17;0.14;0.14;0.13;0.00;0.00;0.00;0.00 dgv122e55 17:34426246-34870708 0.0300 IMH 17:30436599-65922464;17:32367054-60556542;17:32367223-60556516;17:32367435-60556508 0.2252 chr17:34405281-34480907 dbVar;17:34416412-34496071 nsv514836;17:34424712-34477480 dgv908e212;17:34426246-34870708 dgv122e55;17:34435513-34485079 dgv3148n100;17:34435674-34621060 DDD:49237;17:34436100-34482872 1000g;17:34436100-34482872 dgv572e214;chr17:34437000-34494000 dbVar;17:34437483-34477480 dgv910e212;chr17:34438389-34594251 dbVar;17:34443777-34537005 DDD:49243;chr17:34480907-34594251 dbVar;chr17:34493000-34503000 dbVar;17:34502930-34524195 nsv514837;17:34517741-34540630 DDD:49256;17:34580927-34587273 DDD:49263;chr17:34594251-34674805 dbVar;17:34625755-34641426 DDD:49271;chr17:34726651-34808825 dbVar... 17:34387632-34629696 esv2762388;chr17:34405281-34674805 dbVar;17:34416538-34629684 dgv3144n100;17:34425364-34477387 dgv121e55;17:34431132-34484342 DDD:49235;17:34435513-34629696 esv2760467;chr17:34436099-34482872 dbVar;17:34436100-34482872 1000g;17:34436438-34780239 DDD:49240;17:34437129-34485091 esv2421587;chr17:34438389-34480907 dbVar;chr17:34438389-34666383 dbVar;chr17:34448629-34449060 dbVar;chr17:34480907-34674805 dbVar;chr17:34502750-34675848 dbVar;17:34502941-34524192 TS40:ISCA-46706;17:34538648-34540293 nsv514838;chr17:34594251-34657961 dbVar;17:34610042-34641487 nsv514839;chr17:34725848-34756800 dbVar... 17:34438323-34449809 DDD:49242;chr17:34445826-34446140 dbVar;17:34508446-34554792 dgv545e199;17:34517741-34540630 DDD:49256;chr17:34540766-34540825 dbVar;17:34580927-34587273 DDD:49263;17:34625755-34641426 DDD:49271;chr17:34642332-34642392 dbVar;17:34702019-34702094 DDD:49280;17:34762644-34775639 DDD:49288;chr17:34812000-36251000 dbVar 17:34436438-34780239 DDD:49240;17:34443777-34537005 DDD:49243;17:34446621-34447535 DDD:49246;17:34509780-34551554 HI40:ISCA-46698;chr17:34528205-34528314 dbVar;17:34540766-34540825 gnomAD-SV_v2.1_DEL_17_159956;17:34591446-34670592 dgv546e199;chr17:34629804-34629885 dbVar;17:34642332-34642392 gnomAD-SV_v2.1_DEL_17_159958;17:34750173-34796456 DDD:49284;chr17:34808750-34815000 dbVar 650936;666192;914982;843056;871448;792583;651331;1008133;1008390;1008393;1008397;1008403;1008404;1008414;1008416;1008428;1008433;1008436;940419;987474;2208771;1314448;1320799;1505611;965332;831456;791549;1587115;878636;1428723;1966753;1241176;2242284;2563085;874577;1206030;1721282;2234627;1868520;2161178;2592993;823129;719980;897048;899422;920618;881956;607486;916148;602398;892138;... loss;gain 0.435 0.515 17:34437545-34437861 7SLRNA 17:34405992-34437446;17:34405992-34437446 94.43 2.42746656950142 2.41694262394586 yes 7 3.1517e-01 6.3692e-01 -1.0 1A (cf Gene_count, RE_gene, +0.00);2D (cf B_gain_source, -1.00);2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00);3A (7 genes, +0.00);5F (+0.00) 1 17_34437476_34817481_DUP_1 17 34437476 34817481 380005 DUP Benign NA split q12 TBC1D3B NM_001001417 7 34493062 34503996 10934 1650 100 no 14 txStart-txEnd 5'UTR-3'UTR 34493062 34503996 DDD:49237;DDD:49240;DDD:49243;dbVar;dgv122e55;dgv3144n100;esv2760467;esv2762388 17:34387632-34629696;chr17:34405281-34674805;17:34416538-34629684;17:34426246-34870708;17:34435513-34629696;17:34435674-34621060;17:34436438-34780239;chr17:34438389-34594251;chr17:34438389-34666383;17:34443777-34537005;chr17:34480907-34594251;chr17:34480907-34674805 0.1041 DDD:49240;DDD:49243 17:34436438-34780239;17:34443777-34537005 0.0982 IMH 17:30436599-65922464;17:32367054-60556542;17:32367223-60556516;17:32367435-60556508 0.2252 94.43 2.42746656950142 2.41694262394586 414059 7 2.1949e-01 6.3692e-01 full=1 17_34437476_34817481_DUP_1 17 34437476 34817481 380005 DUP Benign NA split q12 CCL3L3 NM_001001437 4 34522267 34524157 1890 282 100 no 3 txStart-txEnd 5'UTR-3'UTR 34522267 34524157 DDD:49237;DDD:49240;DDD:49243;DDD:49256;TS40:ISCA-46706;dbVar;dgv122e55;dgv3144n100;esv2760467;esv2762388;nsv514837 17:34387632-34629696;chr17:34405281-34674805;17:34416538-34629684;17:34426246-34870708;17:34435513-34629696;17:34435674-34621060;17:34436438-34780239;chr17:34438389-34594251;chr17:34438389-34666383;17:34443777-34537005;chr17:34480907-34594251;chr17:34480907-34674805;chr17:34502750-34675848;17:34502930-34524195;17:34502941-34524192;17:34517741-34540630 0.1041 DDD:49240;DDD:49243;DDD:49256;HI40:ISCA-46698;dgv545e199 17:34436438-34780239;17:34443777-34537005;17:34508446-34554792;17:34509780-34551554;17:34517741-34540630 0.1500 IMH 17:30436599-65922464;17:32367054-60556542;17:32367223-60556516;17:32367435-60556508 0.2252 88.85 414062 9 3.1517e-01 full=1 17_34437476_34817481_DUP_1 17 34437476 34817481 380005 DUP Benign NA split q12 CCL4L2 NM_001291471 2 34538464 34540275 1811 312 100 no 3 txStart-txEnd 5'UTR-3'UTR 34538464 34540275 DDD:49237;DDD:49240;DDD:49256;dbVar;dgv122e55;dgv3144n100;esv2760467;esv2762388 17:34387632-34629696;chr17:34405281-34674805;17:34416538-34629684;17:34426246-34870708;17:34435513-34629696;17:34435674-34621060;17:34436438-34780239;chr17:34438389-34594251;chr17:34438389-34666383;chr17:34480907-34594251;chr17:34480907-34674805;chr17:34502750-34675848;17:34517741-34540630 0.0994 DDD:49240;DDD:49256;HI40:ISCA-46698;dgv545e199 17:34436438-34780239;17:34508446-34554792;17:34509780-34551554;17:34517741-34540630 0.1500 IMH 17:30436599-65922464;17:32367054-60556542;17:32367223-60556516;17:32367435-60556508 0.2252 84.65 1.02068766819866 1.31010018701924 9560 9 8.8586e-02 4.8994e-01 full=1 @@ -488,12 +488,12 @@ X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA spl 17_44171889_44297143_DUP_1 17 44171889 44297143 125254 DUP Benign NA full q21.31 KANSL1;KANSL1-AS1 STH ARL17B 2 GOSR2 (morbid/RE=ABC_enhancer+GH_enhancer);MAPT (morbid/RE=ABC_enhancer);NSF (morbid/RE=EA_enhancer);PLEKHM1 (morbid/RE=ABC_enhancer) dbVar:nssv15149908;nssv15152170;dbVar:nssv15159024;dbVar:nssv15160732;dbVar:nssv15159027;dbVar:nssv15127236;dbVar:nssv15149626;dbVar:nssv15150382;dbVar:nssv16207328;dbVar:nssv15141990 17:527-81041938;17:7215-81058310;17:8548-81060040;17:12345-81057996;17:16757564-81048189;17:42580685-81085615;17:43655357-44292742;17:43655357-44784639;17:43710151-44292742 0.15;0.15;0.15;0.15;0.19;0.33;18.96;11.09;20.74 Koolen-De Vries syndrome, 610443 (3) AD dbVar:nssv15127168;dbVar:nssv16215146;dbVar:nssv15141350;dbVar:nssv16254531;dbVar:nssv15124147;dbVar:nssv15135761;dbVar:nssv15137490;dbVar:nssv18330259;dbVar:nssv15129570;dbVar:nssv15138300;dbVar:nssv15137112;dbVar:nssv15132122;dbVar:nssv15132318;nssv15133093;dbVar:nssv15135170;dbVar:nssv15132284;nssv15139974;dbVar:nssv15136771;dbVar:nssv15136778;dbVar:nssv15132380;dbVar:nssv15173411;dbVar:nssv18329240;dbVar:nssv15133422;dbVar:nssv15143597;nssv15155552;dbVar:nssv15138826;dbVar:nssv15142266;nssv17976955;nssv18326376;dbVar:nssv15173506;dbVar:nssv15136011;dbVar:nssv15133428;dbVar:nssv15132370;nssv15140010;dbVar:nssv15132745;dbVar:nssv16091744;dbVar:nssv15135222;dbVar:nssv15161495;dbVar:nssv15129007;dbVar:nssv15152077;dbVar:nssv15132384;dbVar:nssv15136234;dbVar:nssv15132385;dbVar:nssv15133429;morbid:KANSL1;HI3:KANSL1;dbVar:nssv16252231 17:34750819-81048189;17:43559852-44248220;17:43585761-44248995;17:43586397-44212416;17:43592411-44249054;17:43593477-44224221;17:43622198-44201470;17:43622198-44212416;17:43629216-44399455;17:43648492-44214888;17:43651732-44351152;17:43653228-44351644;17:43655748-44176717;17:43655748-44224221;17:43655748-44351152;17:43656694-44176717;17:43656694-44694311;17:43675409-44351152;17:43685926-44212727;17:43693539-44212416;17:43693608-44176717;17:43703801-44212416;17:43703802-44187492;17:43703802-44212416;17:43705602-44208333;17:43706887-44171947;17:43706887-44176171;17:43706887-44176717;17:43706887-44207977;17:43706887-44210822;17:43706887-44351152;17:43706887-44694283;17:43706896-44762543;17:43710371-44212416;17:43715081-44176717;17:43717704-44345038;17:43717704-44351152;17:43751675-44351152;17:44107282-44302733;17:44107283-44302740;17:44174220-44481307 0.27;11.09;11.63;6.47;11.75;8.30;5.11;6.87;16.26;7.59;17.91;17.93;0.93;9.21;18.01;0.93;12.07;18.54;7.75;7.81;1.00;7.97;3.23;7.97;7.25;0.01;0.91;1.03;7.20;7.73;19.44;12.69;11.87;8.07;1.05;19.97;19.77;20.89;64.08;64.08;40.03 22 Inborn_genetic_diseases;Intellectual_disability;Koolen-de_Vries_syndrome;Neurodevelopmental_delay DDD:49604;IMH;dbVar;dgv127e55;dgv128e55;dgv3181n100;esv2422002;esv2762433;nsv516807 17:43574135-44788194;17:43655786-44366714;17:44004973-44811116;17:44094472-44364056;17:44109475-44793283;chr17:44139347-44410871;17:44145590-44364158;chr17:44165250-44337661;chr17:44165250-44410871;17:44165804-44362009;17:44170038-44744285 0.1700 esv2762433 17:43574135-44788194 0.0700 IMH 17:30436599-65922464;17:32367054-60556542;17:32367223-60556516;17:32367435-60556508;17:43662689-44338152;17:43664434-44336296;17:43681870-44318931 0.2252 17:43655786-44366714 IMH;17:44094472-44364056 dgv128e55;chr17:44139347-44410871 dbVar;17:44149791-44248860 DDD:49602;chr17:44165000-44217000 dbVar;chr17:44165250-44337661 dbVar;chr17:44165338-44211686 dbVar;17:44165339-44211686 1000g;17:44165703-44291551 nsv514850;17:44170038-44744285 DDD:49604;17:44175518-44443972 DDD:49608;17:44176859-44397890 DDD:49609;17:44187493-44292742 dgv938e212;17:44187493-44789621 dgv939e212;17:44208145-44764994 esv2760451;chr17:44208362-44787272 dbVar;17:44212647-44369642 IMH;17:44212745-44369562 gnomAD-SV_v2.1_DUP_17_44188;17:44223908-44224221 1000g;chr17:44224197-44224935 dbVar... 17:43574135-44788194 esv2762433;17:44004973-44811116 dgv127e55;17:44109475-44793283 nsv516807;17:44145590-44364158 dgv3181n100;17:44163926-44293020 dgv367n27;17:44165000-44217000 gnomAD-SV_v2.1_DUP_17_44187;chr17:44165250-44410871 dbVar;17:44165339-44211686 1000g;17:44165339-44211686 dgv575e214;17:44165804-44362009 esv2422002;17:44170285-44212803 DDD:49606;17:44176395-44176717 1000g;17:44187493-44214094 dgv937e212;17:44187493-44364056 dgv130e55;17:44194107-44762405 DDD:49611;chr17:44208362-44406622 dbVar;17:44209763-44267388 DDD:49612;chr17:44212745-44369562 dbVar;17:44212825-44276618 dgv943e212;chr17:44223933-44224949 dbVar... 17:44170285-44212803 DDD:49606;chr17:44176395-44176717 dbVar;chr17:44176407-44176807 dbVar;17:44176859-44397890 DDD:49609;17:44190672-44785015 dgv940e212;chr17:44192997-44193064 dbVar;17:44208145-44764994 esv2760451;chr17:44223760-44224221 dbVar;17:44223908-44224221 1000g;17:44223908-44224221 esv2662030;chr17:44265262-44265312 dbVar; 17:43574135-44788194 esv2762433;17:44176395-44176717 1000g;17:44176395-44176717 esv2675570;17:44176407-44176807 gnomAD-SV_v2.1_DEL_17_160649;chr17:44179666-44182382 dbVar;chr17:44192422-44192507 dbVar;17:44194107-44762405 DDD:49611;17:44212311-44292742 dgv941e212;17:44223760-44224221 gnomAD-SV_v2.1_DEL_17_160652;chr17:44223908-44224221 dbVar;chr17:44256597-44256681 dbVar;chr17:44278890-44279167 dbVar 992416;992452;992460;971439;2822283;936188;699111;763559;763560;1997544;2228707;2896576;3037823;1274013;2348966;933569;2715621;989025;2410443;70215;987476;453497;942828;2644184;1145788;1665693;1853738;2618991;2839546;2972078;2976287;688566;1021567;1021568;663556;1248933;3054208;1140557;1022169;2074112;2606291;1357512;1134448;2027524;2282991;667879;670841;2478215;2750031;3067029;468614;... loss;gain 0.380 0.460 17:44297188-44297495 AluY 17:44164882-44183555 17:44294406-44329730 3 16.23 -0.71959827485963 0.443929223699058 612452 yes 0 9.9972e-01 9.9973e-01 -1.0 1A (cf Gene_count, RE_gene, +0.00);2D (cf B_gain_source, -1.00);2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00);2E (cf B_gain_source, +0.00);2I-3 (KANSL1, +0.00);3A (2 genes, +0.00);5F (+0.00) 1 17_44171889_44297143_DUP_1 17 44171889 44297143 125254 DUP Benign NA split q21.31 KANSL1 NM_001193465 2 44107281 44302733 125255 1431 43 no 16 intron2-intron4 5'UTR-CDS 37 5' 44171888 44297143 22 Inborn_genetic_diseases;Intellectual_disability;Koolen-de_Vries_syndrome;Neurodevelopmental_delay DDD:49604;IMH;dbVar;dgv127e55;dgv128e55;dgv3181n100;esv2422002;esv2762433;nsv516807 17:43574135-44788194;17:43655786-44366714;17:44004973-44811116;17:44094472-44364056;17:44109475-44793283;chr17:44139347-44410871;17:44145590-44364158;chr17:44165250-44337661;chr17:44165250-44410871;17:44165804-44362009;17:44170038-44744285 0.1700 esv2762433 17:43574135-44788194 0.0700 IMH 17:30436599-65922464;17:32367054-60556542;17:32367223-60556516;17:32367435-60556508;17:43662689-44338152;17:43664434-44336296;17:43681870-44318931 0.2252 992416;992452;992460;971439;2822283;936188;699111;763559;763560;1997544;2228707;2896576;3037823;1274013;2348966;933569;2715621;989025;2410443;70215;987476;453497;942828;2644184;1145788;1665693;1853738;2618991;2839546;2972078;2976287;688566;1021567;1021568;663556;1248933;3054208;1140557;1022169;2074112;2606291;1357512;1134448;2027524;2282991;667879;670841;2478215;2750031;3067029;468614;... loss;gain 3 0 16.23 -0.71959827485963 0.443929223699058 Koolen-de Vries syndrome;Koolen-de Vries syndrome due to a point mutation AD Definitive;Strong;Supportive 22544363;22544363[PMID]_22544367[PMID]_20301783[PMID];22544367 284058 612452 Koolen-De Vries syndrome, 610443 (3) AD AD yes 0 9.9972e-01 9.9973e-01 full=1 17_44171889_44297143_DUP_1 17 44171889 44297143 125254 DUP Benign NA split q21.31 KANSL1-AS1 NR_034172 1 44270938 44274089 3151 0 0 no 2 txStart-txEnd UTR 44270938 44274089 DDD:49604;DDD:49608;DDD:49609;DDD:49611;DDD:49618;IMH;dbVar;dgv127e55;dgv128e55;dgv130e55;dgv3181n100;dgv367n27;dgv938e212;dgv939e212;dgv943e212;esv2422002;esv2760451;esv2762433;gnomAD-SV_v2.1_DUP_17_44188;nsv514850;nsv516807 17:43574135-44788194;17:43655786-44366714;17:44004973-44811116;17:44094472-44364056;17:44109475-44793283;chr17:44139347-44410871;17:44145590-44364158;17:44163926-44293020;chr17:44165250-44337661;chr17:44165250-44410871;17:44165703-44291551;17:44165804-44362009;17:44170038-44744285;17:44175518-44443972;17:44176859-44397890;17:44187493-44292742;17:44187493-44364056;17:44187493-44789621;17:44194107-44762405;17:44208145-44764994;chr17:44208362-44406622;chr17:44208362-44787272;17:44212647-44369642;chr17:44212745-44369562;17:44212745-44369562;17:44212825-44276618;17:44249111-44320939 0.5406 DDD:49609;DDD:49611;dgv940e212;dgv941e212;esv2760451;esv2762433 17:43574135-44788194;17:44176859-44397890;17:44190672-44785015;17:44194107-44762405;17:44208145-44764994;17:44212311-44292742 0.2994 IMH 17:30436599-65922464;17:32367054-60556542;17:32367223-60556516;17:32367435-60556508;17:43662689-44338152;17:43664434-44336296;17:43681870-44318931;17:43702611-44296817 0.2252 644246 full=1 -2_242865921_243028452_DEL_1 2 242865921 243028452 -162531 DEL Benign NA full q37.3 LINC01237;LINC01238;LOC285097;LINC01880 FAM240C LINC01881 4 AGXT (morbid/RE=ABC_enhancer);D2HGDH (morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer);DTYMK (morbid/RE=ABC_enhancer+EA_enhancer);FARP2 (morbid/RE=ABC_enhancer+GH_promoter_enhancer) dbVar:nssv17976961;dbVar:nssv15174359;dbVar:nssv15174602;dbVar:nssv16254741;dbVar:nssv15147151;dbVar:nssv15147318;dbVar:nssv15146760;dbVar:nssv15121191;dbVar:nssv15134347;dbVar:nssv15120707;dbVar:nssv8639299 2:2-243199373;2:14239-243048760;2:15673-243101834;2:178397960-243007457;2:189682922-243007359;2:211444401-243059659;2:218966483-243059659;2:228667865-243028452;2:236177413-243059659;2:236472309-243028452;2:239873382-243006013 0.07;0.07;0.07;0.22;0.27;0.51;0.67;1.13;2.36;2.48;4.47 2q37.3 terminal region (includes HDAC4) dbVar:nssv15124851;dbVar:nssv15132233;nssv15140017;dbVar:nssv16296940;dbVar:nssv15139807;dbVar:nssv15126959;dbVar:nssv15121136;dbVar:nssv15120661;dbVar:nssv15121139;dbVar:nssv15132363;dbVar:nssv15121140;dbVar:nssv15134903;dbVar:nssv15122404;dbVar:nssv15133611;dbVar:nssv15120667;dbVar:nssv16865882;dbVar:nssv15137653;dbVar:nssv15132686;dbVar:nssv17976287;dbVar:nssv15136836;dbVar:nssv15133934;dbVar:nssv15133750;dbVar:nssv15163370;dbVar:nssv15134792;dbVar:nssv15133170;dbVar:nssv15132355;dbVar:nssv15605955;dbVar:nssv15137339;dbVar:nssv15605956;dbVar:nssv18326326;dbVar:nssv15136036;dbVar:nssv15755694;HI3:ISCA-37394;dbVar:nssv15121144;dbVar:nssv15135054;dbVar:nssv15133743;dbVar:nssv15135857;dbVar:nssv15120673;dbVar:nssv15133620;dbVar:nssv15122695;dbVar:nssv15163383;dbVar:nssv16207882;dbVar:nssv15141519;dbVar:nssv15121145 2:50886433-243102476;2:232634990-243059659;2:233110453-243028452;2:233784244-243040217;2:233891214-243068334;2:233995841-243028452;2:234362258-243041306;2:235081181-243028452;2:235254487-243059659;2:235576804-243059659;2:235744425-243007359;2:235937074-243008259;2:236177413-243007359;2:236649724-242974607;2:237201757-243048760;2:237322366-243059659;2:237463877-243059659;2:237619066-243048655;2:237684406-243059659;2:237875407-243007359;2:237943120-243007359;2:238037760-243101834;2:238140848-243007359;2:238434828-242938241;2:238552640-243059659;2:238795603-242918203;2:238811513-243059659;2:239071624-243048760;2:239229305-243199373;2:239742161-243059659;2:239894073-243048760;2:239954694-242930600;2:241006624-243028452;2:241006624-243059659;2:241110555-243007359;2:241127319-243059659;2:241384237-243028452;2:241446569-243007359;2:241610649-243034277;2:241847590-243101834;2:242011634-243199373;2:242045570-243040217;2:242188711-243028452 0.08;1.56;1.64;1.76;1.77;1.80;1.87;2.05;2.08;2.17;1.95;2.01;2.07;1.72;2.78;2.83;2.90;2.99;3.02;2.76;2.79;3.21;2.91;1.61;3.61;1.27;3.83;4.09;4.09;4.90;5.15;2.17;8.04;7.92;7.46;8.41;9.89;9.06;11.42;12.96;13.68;16.34;19.35 dbVar chr2:242759086-243061064 0.01 DDD:9221;DDD:9222;IMH;dbVar;gnomAD-SV_v2.1_DEL_2_28790 2:242849685-243064401;chr2:242852582-243035504;chr2:242853252-243035778;2:242853252-243035778;2:242853253-243035778;2:242853253-243035778 0.0686 chr2:242759086-243061064 dbVar;chr2:242830051-242941344 dbVar;2:242869276-242871593 IMH;chr2:242881412-242881978 dbVar;chr2:242890091-242926595 dbVar;chr2:242928580-242929253 dbVar;chr2:242945609-242946126 dbVar;chr2:242948000-242953000 dbVar;chr2:242953041-242994310 dbVar;chr2:242955091-242989460 dbVar;chr2:242960191-242960274 dbVar;chr2:242964220-242964715 dbVar;chr2:242966528-242967434 dbVar;chr2:242968350-243042956 dbVar;chr2:242972195-242973743 dbVar;chr2:242975102-242975433 dbVar;chr2:242986081-242986179 dbVar;2:242988770-243037176 1000g;chr2:242990734-242996703 dbVar;chr2:242998333-242998483 dbVar... chr2:242743183-242871121 dbVar;chr2:242806389-242941416 dbVar;chr2:242867459-242867538 dbVar;chr2:242869973-242871147 dbVar;chr2:242889607-242924507 dbVar;chr2:242894433-242907894 dbVar;2:242930601-243102476 TS40:ISCA-37470;chr2:242945609-242946430 dbVar;chr2:242950077-242950601 dbVar;chr2:242953164-242954423 dbVar;chr2:242955205-242959025 dbVar;chr2:242960459-242968350 dbVar;chr2:242964221-242964720 dbVar;chr2:242968350-242974721 dbVar;chr2:242971430-242983239 dbVar;chr2:242974721-242986550 dbVar;chr2:242983442-243003523 dbVar;chr2:242988769-243037176 dbVar;2:242988770-243037176 dgv768e214;chr2:242990734-243008570 dbVar... 2:242702555-243025545 DDD:9211;chr2:242851168-242874365 dbVar;2:242851169-242874365 esv3594848;chr2:242852582-243035504 dbVar;2:242852907-242902712 1000g;chr2:242853243-243019021 dbVar;2:242853244-243019021 esv3594850;2:242853252-243035778 gnomAD-SV_v2.1_DEL_2_28790;2:242853253-243035778 IMH;chr2:242860574-242892107 dbVar;2:242860575-242892107 esv3594851;2:242872863-243012181 HI40:ISCA-46585;chr2:242878551-242885258 dbVar;2:242881805-242896360 1000g;2:242881806-242896359 DDD:9229;chr2:242888545-242889711 dbVar;2:242890092-242926595 1000g;chr2:242895812-242954423 dbVar;2:242898343-242898462 1000g;chr2:242912279-242912530 dbVar... 2:242516106-243014630 dgv165e55;2:242849685-243064401 DDD:9221;2:242851169-242874365 1000g;chr2:242852582-242959025 dbVar;chr2:242852906-242902712 dbVar;2:242852907-242902712 esv3594849;2:242853244-243019021 1000g;chr2:242853252-243035778 dbVar;2:242853253-243035778 DDD:9222;chr2:242854838-242867434 dbVar;2:242860575-242892107 1000g;2:242867313-242921118 DDD:9226;chr2:242874439-243024795 dbVar;chr2:242881804-242896360 dbVar;2:242881805-242896360 esv3594852;chr2:242887570-243070660 dbVar;chr2:242890091-242926595 dbVar;2:242890092-242926595 esv3594853;chr2:242898332-242898462 dbVar;chr2:242898343-242898462 dbVar... 0.400 0.460 2:243007680-243062019 -1.0 1A (cf Gene_count, RE_gene, +0.00);2F/4O (cf B_loss_source, -1.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);3A (4 genes, +0.00);5F (+0.00) 1 +2_242865921_243028452_DEL_1 2 242865921 243028452 -162531 DEL Benign NA full q37.3 LINC01237;LINC01238;LOC285097;LINC01880 FAM240C LINC01881 4 AGXT (morbid/RE=ABC_enhancer);D2HGDH (morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer);DTYMK (morbid/RE=ABC_enhancer+EA_enhancer) dbVar:nssv17976961;dbVar:nssv15174359;dbVar:nssv15174602;dbVar:nssv16254741;dbVar:nssv15147151;dbVar:nssv15147318;dbVar:nssv15146760;dbVar:nssv15121191;dbVar:nssv15134347;dbVar:nssv15120707;dbVar:nssv8639299 2:2-243199373;2:14239-243048760;2:15673-243101834;2:178397960-243007457;2:189682922-243007359;2:211444401-243059659;2:218966483-243059659;2:228667865-243028452;2:236177413-243059659;2:236472309-243028452;2:239873382-243006013 0.07;0.07;0.07;0.22;0.27;0.51;0.67;1.13;2.36;2.48;4.47 2q37.3 terminal region (includes HDAC4) dbVar:nssv15124851;dbVar:nssv15132233;nssv15140017;dbVar:nssv16296940;dbVar:nssv15139807;dbVar:nssv15126959;dbVar:nssv15121136;dbVar:nssv15120661;dbVar:nssv15121139;dbVar:nssv15132363;dbVar:nssv15121140;dbVar:nssv15134903;dbVar:nssv15122404;dbVar:nssv15133611;dbVar:nssv15120667;dbVar:nssv16865882;dbVar:nssv15137653;dbVar:nssv15132686;dbVar:nssv17976287;dbVar:nssv15136836;dbVar:nssv15133934;dbVar:nssv15133750;dbVar:nssv15163370;dbVar:nssv15134792;dbVar:nssv15133170;dbVar:nssv15132355;dbVar:nssv15605955;dbVar:nssv15137339;dbVar:nssv15605956;dbVar:nssv18326326;dbVar:nssv15136036;dbVar:nssv15755694;HI3:ISCA-37394;dbVar:nssv15121144;dbVar:nssv15135054;dbVar:nssv15133743;dbVar:nssv15135857;dbVar:nssv15120673;dbVar:nssv15133620;dbVar:nssv15122695;dbVar:nssv15163383;dbVar:nssv16207882;dbVar:nssv15141519;dbVar:nssv15121145 2:50886433-243102476;2:232634990-243059659;2:233110453-243028452;2:233784244-243040217;2:233891214-243068334;2:233995841-243028452;2:234362258-243041306;2:235081181-243028452;2:235254487-243059659;2:235576804-243059659;2:235744425-243007359;2:235937074-243008259;2:236177413-243007359;2:236649724-242974607;2:237201757-243048760;2:237322366-243059659;2:237463877-243059659;2:237619066-243048655;2:237684406-243059659;2:237875407-243007359;2:237943120-243007359;2:238037760-243101834;2:238140848-243007359;2:238434828-242938241;2:238552640-243059659;2:238795603-242918203;2:238811513-243059659;2:239071624-243048760;2:239229305-243199373;2:239742161-243059659;2:239894073-243048760;2:239954694-242930600;2:241006624-243028452;2:241006624-243059659;2:241110555-243007359;2:241127319-243059659;2:241384237-243028452;2:241446569-243007359;2:241610649-243034277;2:241847590-243101834;2:242011634-243199373;2:242045570-243040217;2:242188711-243028452 0.08;1.56;1.64;1.76;1.77;1.80;1.87;2.05;2.08;2.17;1.95;2.01;2.07;1.72;2.78;2.83;2.90;2.99;3.02;2.76;2.79;3.21;2.91;1.61;3.61;1.27;3.83;4.09;4.09;4.90;5.15;2.17;8.04;7.92;7.46;8.41;9.89;9.06;11.42;12.96;13.68;16.34;19.35 dbVar chr2:242759086-243061064 0.01 DDD:9221;DDD:9222;IMH;dbVar;gnomAD-SV_v2.1_DEL_2_28790 2:242849685-243064401;chr2:242852582-243035504;chr2:242853252-243035778;2:242853252-243035778;2:242853253-243035778;2:242853253-243035778 0.0686 chr2:242759086-243061064 dbVar;chr2:242830051-242941344 dbVar;2:242869276-242871593 IMH;chr2:242881412-242881978 dbVar;chr2:242890091-242926595 dbVar;chr2:242928580-242929253 dbVar;chr2:242945609-242946126 dbVar;chr2:242948000-242953000 dbVar;chr2:242953041-242994310 dbVar;chr2:242955091-242989460 dbVar;chr2:242960191-242960274 dbVar;chr2:242964220-242964715 dbVar;chr2:242966528-242967434 dbVar;chr2:242968350-243042956 dbVar;chr2:242972195-242973743 dbVar;chr2:242975102-242975433 dbVar;chr2:242986081-242986179 dbVar;2:242988770-243037176 1000g;chr2:242990734-242996703 dbVar;chr2:242998333-242998483 dbVar... chr2:242743183-242871121 dbVar;chr2:242806389-242941416 dbVar;chr2:242867459-242867538 dbVar;chr2:242869973-242871147 dbVar;chr2:242889607-242924507 dbVar;chr2:242894433-242907894 dbVar;2:242930601-243102476 TS40:ISCA-37470;chr2:242945609-242946430 dbVar;chr2:242950077-242950601 dbVar;chr2:242953164-242954423 dbVar;chr2:242955205-242959025 dbVar;chr2:242960459-242968350 dbVar;chr2:242964221-242964720 dbVar;chr2:242968350-242974721 dbVar;chr2:242971430-242983239 dbVar;chr2:242974721-242986550 dbVar;chr2:242983442-243003523 dbVar;chr2:242988769-243037176 dbVar;2:242988770-243037176 dgv768e214;chr2:242990734-243008570 dbVar... 2:242702555-243025545 DDD:9211;chr2:242851168-242874365 dbVar;2:242851169-242874365 esv3594848;chr2:242852582-243035504 dbVar;2:242852907-242902712 1000g;chr2:242853243-243019021 dbVar;2:242853244-243019021 esv3594850;2:242853252-243035778 gnomAD-SV_v2.1_DEL_2_28790;2:242853253-243035778 IMH;chr2:242860574-242892107 dbVar;2:242860575-242892107 esv3594851;2:242872863-243012181 HI40:ISCA-46585;chr2:242878551-242885258 dbVar;2:242881805-242896360 1000g;2:242881806-242896359 DDD:9229;chr2:242888545-242889711 dbVar;2:242890092-242926595 1000g;chr2:242895812-242954423 dbVar;2:242898343-242898462 1000g;chr2:242912279-242912530 dbVar... 2:242516106-243014630 dgv165e55;2:242849685-243064401 DDD:9221;2:242851169-242874365 1000g;chr2:242852582-242959025 dbVar;chr2:242852906-242902712 dbVar;2:242852907-242902712 esv3594849;2:242853244-243019021 1000g;chr2:242853252-243035778 dbVar;2:242853253-243035778 DDD:9222;chr2:242854838-242867434 dbVar;2:242860575-242892107 1000g;2:242867313-242921118 DDD:9226;chr2:242874439-243024795 dbVar;chr2:242881804-242896360 dbVar;2:242881805-242896360 esv3594852;chr2:242887570-243070660 dbVar;chr2:242890091-242926595 dbVar;2:242890092-242926595 esv3594853;chr2:242898332-242898462 dbVar;chr2:242898343-242898462 dbVar... 0.400 0.460 2:243007680-243062019 -1.0 1A (cf Gene_count, RE_gene, +0.00);2F/4O (cf B_loss_source, -1.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);3A (4 genes, +0.00);5F (+0.00) 1 2_242865921_243028452_DEL_1 2 242865921 243028452 -162531 DEL Benign NA split q37.3 LINC01237 NR_110220 1 242823513 243020873 154953 0 0 no 4 intron2-txEnd UTR 41134 5' 242865920 243020873 dbVar chr2:242759086-243061064 0.01 DDD:9211;DDD:9221;DDD:9222;IMH;dbVar;gnomAD-SV_v2.1_DEL_2_28790 2:242702555-243025545;2:242849685-243064401;chr2:242852582-243035504;chr2:242853252-243035778;2:242853252-243035778;2:242853253-243035778;2:242853253-243035778 0.0686 101927289 full=1 2_242865921_243028452_DEL_1 2 242865921 243028452 -162531 DEL Benign NA split q37.3 LINC01238 NR_110592 1 242912833 242919427 6594 0 0 no 6 txStart-txEnd UTR 242912833 242919427 dbVar chr2:242759086-243061064;chr2:242806389-242941416;chr2:242830051-242941344;chr2:242889607-242924507;chr2:242890091-242926595 0.01 1000g;DDD:9211;DDD:9221;DDD:9222;DDD:9226;HI40:ISCA-46585;IMH;dbVar;dgv165e55;esv3594850;esv3594853;gnomAD-SV_v2.1_DEL_2_28790 2:242516106-243014630;2:242702555-243025545;2:242849685-243064401;chr2:242852582-242959025;chr2:242852582-243035504;chr2:242853243-243019021;2:242853244-243019021;2:242853244-243019021;chr2:242853252-243035778;2:242853252-243035778;2:242853253-243035778;2:242853253-243035778;2:242867313-242921118;2:242872863-243012181;chr2:242874439-243024795;chr2:242887570-243070660;chr2:242890091-242926595;2:242890092-242926595;2:242890092-242926595;chr2:242895812-242954423 0.0686 102723927 full=1 2_242865921_243028452_DEL_1 2 242865921 243028452 -162531 DEL Benign NA split q37.3 LOC285097 NR_149023 1 242943359 242948164 4805 0 0 no 1 txStart-txEnd UTR 242943359 242948164 TS40:ISCA-37470;dbVar chr2:242759086-243061064;2:242930601-243102476 0.01 1000g;DDD:9211;DDD:9221;DDD:9222;DDD:9231;DDD:9235;HI40:ISCA-37470;HI40:ISCA-46585;IMH;dbVar;dgv165e55;dgv167e55;dgv4203n100;dgv498n27;dgv90e203;esv3594850;esv3594855;gnomAD-SV_v2.1_DEL_2_28790 2:242516106-243014630;2:242702555-243025545;2:242849685-243064401;chr2:242852582-242959025;chr2:242852582-243035504;chr2:242853243-243019021;2:242853244-243019021;2:242853244-243019021;chr2:242853252-243035778;2:242853252-243035778;2:242853253-243035778;2:242853253-243035778;2:242872863-243012181;chr2:242874439-243024795;chr2:242887570-243070660;chr2:242895812-242954423;2:242915455-243049013;2:242915467-243089456;2:242917307-243044147;chr2:242918208-242948232;2:242918249-243014630;chr2:242919210-242952227;2:242919211-242952227;2:242919211-242952227;2:242919289-242952148;2:242922232-243083979;2:242930601-243102476;chr2:242933537-242959025;chr2:242936128-242980024;chr2:242938726-242952779;chr2:242941934-242955439 0.0804 full=1 2_242865921_243028452_DEL_1 2 242865921 243028452 -162531 DEL Benign NA split q37.3 LINC01880 NR_146651 1 242989834 243026289 36455 0 0 no 4 txStart-txEnd UTR 242989834 243026289 1000g;TS40:ISCA-37470;dbVar;dgv768e214 chr2:242759086-243061064;2:242930601-243102476;chr2:242968350-243042956;chr2:242988769-243037176;2:242988770-243037176;2:242988770-243037176 0.0951 1000g;DDD:9221;DDD:9222;DDD:9235;HI40:ISCA-37470;IMH;dbVar;dgv4203n100;dgv498n27;dgv90e203;esv3594857;esv3594864;gnomAD-SV_v2.1_DEL_2_28790 2:242849685-243064401;chr2:242852582-243035504;chr2:242853252-243035778;2:242853252-243035778;2:242853253-243035778;2:242853253-243035778;chr2:242887570-243070660;2:242915455-243049013;2:242915467-243089456;2:242917307-243044147;2:242922232-243083979;2:242930601-243102476;chr2:242944058-243035710;2:242944059-243035710;2:242944059-243035710;chr2:242988769-243037176;2:242988770-243037176;2:242988770-243037176 0.0804 105373979 full=1 -3_195419169_195472855_DEL_1 3 195419169 195472855 -53686 DEL Benign NA full q29 MIR570HG;MIR570;MUC20 SDHAP2 MUC4 3 ABCB7 (morbid/RE=mTL_miRNA);ABHD5 (morbid/RE=mTL_miRNA);ADAM22 (morbid/RE=mTL_miRNA);ANXA11 (morbid/RE=mTL_miRNA);ATP6V1B2 (morbid/RE=mTL_miRNA);BICD2 (morbid/RE=mTL_miRNA);BTD (morbid/RE=mTL_miRNA);CALM1 (morbid/RE=mTL_miRNA);CALM3 (morbid/RE=mTL_miRNA);CAVIN1 (morbid/RE=mTL_miRNA);CBFB (morbid/RE=mTL_miRNA);CCDC115 (morbid/RE=mTL_miRNA);CDKN1A (morbid/RE=mTL_miRNA);CDKN1B (HI=3/morbid/RE=mTL_miRNA);CHD1 (morbid/RE=mTL_miRNA);CHSY1 (morbid/RE=mTL_miRNA);CLCN3 (morbid/RE=mTL_miRNA);CRTAP (morbid/RE=mTL_miRNA);CSNK2A1 (morbid/RE=mTL_miRNA);DDHD1 (morbid/RE=mTL_miRNA);ELOVL5 (morbid/RE=mTL_miRNA);EPG5 (morbid/RE=mTL_miRNA);ESCO2 (morbid/RE=mTL_miRNA);EXOC2 (morbid/RE=mTL_miRNA);FBXW7 (morbid/RE=mTL_miRNA);FTH1 (morbid/RE=mTL_miRNA);GDF6 (morbid/RE=mTL_miRNA);GSR (morbid/RE=mTL_miRNA);HNRNPA2B1 (morbid/RE=mTL_miRNA);IGF1R (HI=3/morbid/RE=mTL_miRNA);IL6R (morbid/RE=mTL_miRNA);IREB2 (morbid/RE=mTL_miRNA);KCNB1 (morbid/RE=mTL_miRNA);KLHL15 (morbid/RE=mTL_miRNA);KREMEN1 (morbid/RE=mTL_miRNA);LAMTOR3 (morbid/RE=mTL_miRNA);LEMD2 (morbid/RE=mTL_miRNA);MRPL3 (morbid/RE=mTL_miRNA);MTA3 (morbid/RE=mTL_miRNA);MYO1C (morbid/RE=mTL_miRNA);NDRG1 (morbid/RE=mTL_miRNA);NDUFA12 (morbid/RE=mTL_miRNA);P3H2 (morbid/RE=mTL_miRNA);PAX2 (HI=3/morbid/RE=mTL_miRNA);PCYT1A (morbid/RE=GH_enhancer);PEX2 (morbid/RE=mTL_miRNA);PGK1 (morbid/RE=mTL_miRNA);PHF6 (HI=3/morbid/RE=mTL_miRNA);RAC1 (morbid/RE=mTL_miRNA);RNF168 (morbid/RE=GH_enhancer)... dbVar:nssv15162889;dbVar:nssv15164144;dbVar:nssv15149891;nssv15151839;dbVar:nssv15148025;dbVar:nssv15146977;dbVar:nssv15145927;dbVar:nssv15147555;dbVar:nssv15147518;dbVar:nssv15145707;dbVar:nssv15149548;dbVar:nssv15148262;dbVar:nssv15146719;dbVar:nssv18326383;dbVar:nssv15164224;dbVar:nssv15147464;dbVar:nssv15148839;dbVar:nssv15142547;dbVar:nssv15153539;dbVar:nssv17976740;dbVar:nssv15153542;dbVar:nssv15153544;dbVar:nssv15164241;dbVar:nssv15152868;dbVar:nssv15755821;dbVar:nssv15146377;dbVar:nssv15146980;dbVar:nssv15153546;dbVar:nssv15145873;dbVar:nssv15149008;dbVar:nssv15145905;dbVar:nssv15146981;dbVar:nssv16254509;dbVar:nssv16736615;dbVar:nssv15148110 3:60175-197948027;3:61496-197838262;3:61893-197851986;3:103145727-197837049;3:147239680-197823436;3:151818302-197845254;3:155836231-197851986;3:156039668-197840323;3:157011168-197861598;3:158980632-197766890;3:165854998-197851986;3:167885357-197837049;3:171549422-198022430;3:173281267-197838262;3:175886314-197845254;3:176157700-197845254;3:177246494-197837049;3:182539235-197851986;3:183498521-197851986;3:184003968-197851986;3:186374366-197851986;3:186374672-197838262;3:187913568-197851986;3:188386567-197838262;3:188983161-197837049;3:190385453-197837049;3:191593620-197851986;3:192470727-197845254;3:193422395-197851986;3:194013987-197837069;3:194145226-197895629;3:195068029-197851986;3:195419169-197387258;3:195438670-197837049 0.03;0.03;0.03;0.06;0.11;0.12;0.13;0.13;0.13;0.14;0.17;0.18;0.20;0.22;0.24;0.25;0.26;0.35;0.37;0.39;0.47;0.47;0.54;0.57;0.61;0.72;0.86;1.00;1.21;1.40;1.43;1.93;2.73;1.43 dbVar:nssv15146266;dbVar:nssv15128822;dbVar:nssv15165459;dbVar:nssv17955845;dbVar:nssv17955930;dbVar:nssv15145831 3:185203638-197837049;3:185599935-196462295;3:189101447-197838262;3:189608637-197532175;3:191866467-197842171;3:194059264-197420612 0.42;0.49;0.61;0.68;0.90;1.60 DDD:12528;TS40:ISCA-46592;dbVar;esv2760775;esv2763776 3:195240825-195502119;chr3:195272344-195742942;3:195376589-195493533;3:195383143-195502119;3:195385823-195474165;chr3:195398446-195473245 0.0300 DDD:12528;esv2760775;esv2763776 3:195240825-195502119;3:195383143-195502119;3:195385823-195474165 0.0300 IMH 3:195371562-197367616;3:195376259-197363816;3:195409822-195693354;3:195413625-195689159;3:195417390-195684632;3:195418302-195683569 0.1142 chr3:195272344-195742942 dbVar;chr3:195340839-195456934 dbVar;3:195383143-195502119 esv2760775;chr3:195398446-195473245 dbVar;chr3:195417835-195445776 dbVar;3:195417836-195445776 1000g;3:195417836-195445776 1000g;3:195428197-195442889 nsv515001;chr3:195452012-195457240 dbVar;3:195452013-195457240 1000g;chr3:195453277-195456053 dbVar;3:195454692-195475463 DDD:12537;chr3:195456053-195475056 dbVar;3:195457000-195471300 gnomAD-SV_v2.1_DUP_3_10621;chr3:195457141-195468593 dbVar;3:195457142-195468593 1000g;chr3:195457285-195471001 dbVar;chr3:195466565-195475056 dbVar; 3:195240825-195502119 esv2763776;3:195320057-195470538 DDD:12519;3:195376589-195493533 TS40:ISCA-46592;3:195385823-195474165 DDD:12528;3:195417631-195471708 DDD:12530;3:195417836-195445776 1000g;3:195417836-195445776 1000g;3:195417836-195445776 dgv967e214;chr3:195452000-195457000 dbVar;3:195452013-195457240 1000g;3:195452013-195457240 dgv968e214;chr3:195453277-195475056 dbVar;chr3:195456053-195466565 dbVar;chr3:195457000-195471300 dbVar;chr3:195457000-195550000 dbVar;3:195457142-195468593 1000g;3:195457142-195468593 dgv969e214;chr3:195457816-195472945 dbVar;chr3:195471000-195476300 dbVar 3:195320057-195470538 DDD:12519;3:195383131-195446910 dgv5017n100;3:195385823-195474165 DDD:12528;chr3:195425199-195425686 dbVar;3:195454692-195475463 DDD:12537;3:195457142-195471062 dgv970e214;chr3:195457317-195471062 dbVar;chr3:195463643-195463762 dbVar 3:195240825-195502119 esv2763776;3:195380279-195469564 HI40:ISCA-46589;3:195383143-195502119 esv2760775;3:195417631-195471708 DDD:12530;chr3:195451991-195452447 dbVar;chr3:195457141-195468593 dbVar;3:195457249-195471074 dgv906e199;3:195457318-195471062 1000g 1158545;703362;668577;1066092;690004;794136;666582;674311;665255;915282;1019080;650094;650802;676953;689440;662061;669297;838978 gain;loss 0.470 0.415 3:195418975-195419071 MER3 3:195413607-195420395 3:195341901-195476900 High Signal Region 3:195341901-195476900 High Signal Region 95.22 6 4.7211e-03 -1.0 1A (cf Gene_count, RE_gene, +0.00);2F/4O (cf B_loss_source, -1.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);3A (3 genes, +0.00);5F (+0.00) 1 +3_195419169_195472855_DEL_1 3 195419169 195472855 -53686 DEL Benign NA full q29 MIR570HG;MIR570;MUC20 SDHAP2 MUC4 3 ABCB7 (morbid/RE=mTL_miRNA);ABHD5 (morbid/RE=mTL_miRNA);ADAM22 (morbid/RE=mTL_miRNA);ANXA11 (morbid/RE=mTL_miRNA);ATP6V1B2 (morbid/RE=mTL_miRNA);BICD2 (morbid/RE=mTL_miRNA);BTD (morbid/RE=mTL_miRNA);CALM1 (morbid/RE=mTL_miRNA);CALM3 (morbid/RE=mTL_miRNA);CAVIN1 (morbid/RE=mTL_miRNA);CBFB (morbid/RE=mTL_miRNA);CCDC115 (morbid/RE=mTL_miRNA);CDKN1B (HI=3/morbid/RE=mTL_miRNA);CHD1 (morbid/RE=mTL_miRNA);CHSY1 (morbid/RE=mTL_miRNA);CLCN3 (morbid/RE=mTL_miRNA);CRTAP (morbid/RE=mTL_miRNA);CSNK2A1 (morbid/RE=mTL_miRNA);DDHD1 (morbid/RE=mTL_miRNA);ELOVL5 (morbid/RE=mTL_miRNA);EPG5 (morbid/RE=mTL_miRNA);ESCO2 (morbid/RE=mTL_miRNA);EXOC2 (morbid/RE=mTL_miRNA);FBXW7 (morbid/RE=mTL_miRNA);FTH1 (morbid/RE=mTL_miRNA);GDF6 (morbid/RE=mTL_miRNA);GSR (morbid/RE=mTL_miRNA);IGF1R (HI=3/morbid/RE=mTL_miRNA);IL6R (morbid/RE=mTL_miRNA);IREB2 (morbid/RE=mTL_miRNA);KCNB1 (morbid/RE=mTL_miRNA);KLHL15 (morbid/RE=mTL_miRNA);KREMEN1 (morbid/RE=mTL_miRNA);LEMD2 (morbid/RE=mTL_miRNA);MRPL3 (morbid/RE=mTL_miRNA);MYO1C (morbid/RE=mTL_miRNA);NDRG1 (morbid/RE=mTL_miRNA);NDUFA12 (morbid/RE=mTL_miRNA);P3H2 (morbid/RE=mTL_miRNA);PAX2 (HI=3/morbid/RE=mTL_miRNA);PCYT1A (morbid/RE=GH_enhancer);PEX2 (morbid/RE=mTL_miRNA);PGK1 (morbid/RE=mTL_miRNA);PHF6 (HI=3/morbid/RE=mTL_miRNA);RAC1 (morbid/RE=mTL_miRNA);RNF168 (morbid/RE=GH_enhancer);SAMD12 (morbid/RE=mTL_miRNA);SETD5 (HI=3/morbid/RE=mTL_miRNA);SMC5 (morbid/RE=mTL_miRNA);SOX3 (morbid/RE=mTL_miRNA)... dbVar:nssv15162889;dbVar:nssv15164144;dbVar:nssv15149891;nssv15151839;dbVar:nssv15148025;dbVar:nssv15146977;dbVar:nssv15145927;dbVar:nssv15147555;dbVar:nssv15147518;dbVar:nssv15145707;dbVar:nssv15149548;dbVar:nssv15148262;dbVar:nssv15146719;dbVar:nssv18326383;dbVar:nssv15164224;dbVar:nssv15147464;dbVar:nssv15148839;dbVar:nssv15142547;dbVar:nssv15153539;dbVar:nssv17976740;dbVar:nssv15153542;dbVar:nssv15153544;dbVar:nssv15164241;dbVar:nssv15152868;dbVar:nssv15755821;dbVar:nssv15146377;dbVar:nssv15146980;dbVar:nssv15153546;dbVar:nssv15145873;dbVar:nssv15149008;dbVar:nssv15145905;dbVar:nssv15146981;dbVar:nssv16254509;dbVar:nssv16736615;dbVar:nssv15148110 3:60175-197948027;3:61496-197838262;3:61893-197851986;3:103145727-197837049;3:147239680-197823436;3:151818302-197845254;3:155836231-197851986;3:156039668-197840323;3:157011168-197861598;3:158980632-197766890;3:165854998-197851986;3:167885357-197837049;3:171549422-198022430;3:173281267-197838262;3:175886314-197845254;3:176157700-197845254;3:177246494-197837049;3:182539235-197851986;3:183498521-197851986;3:184003968-197851986;3:186374366-197851986;3:186374672-197838262;3:187913568-197851986;3:188386567-197838262;3:188983161-197837049;3:190385453-197837049;3:191593620-197851986;3:192470727-197845254;3:193422395-197851986;3:194013987-197837069;3:194145226-197895629;3:195068029-197851986;3:195419169-197387258;3:195438670-197837049 0.03;0.03;0.03;0.06;0.11;0.12;0.13;0.13;0.13;0.14;0.17;0.18;0.20;0.22;0.24;0.25;0.26;0.35;0.37;0.39;0.47;0.47;0.54;0.57;0.61;0.72;0.86;1.00;1.21;1.40;1.43;1.93;2.73;1.43 dbVar:nssv15146266;dbVar:nssv15128822;dbVar:nssv15165459;dbVar:nssv17955845;dbVar:nssv17955930;dbVar:nssv15145831 3:185203638-197837049;3:185599935-196462295;3:189101447-197838262;3:189608637-197532175;3:191866467-197842171;3:194059264-197420612 0.42;0.49;0.61;0.68;0.90;1.60 DDD:12528;TS40:ISCA-46592;dbVar;esv2760775;esv2763776 3:195240825-195502119;chr3:195272344-195742942;3:195376589-195493533;3:195383143-195502119;3:195385823-195474165;chr3:195398446-195473245 0.0300 DDD:12528;esv2760775;esv2763776 3:195240825-195502119;3:195383143-195502119;3:195385823-195474165 0.0300 IMH 3:195371562-197367616;3:195376259-197363816;3:195409822-195693354;3:195413625-195689159;3:195417390-195684632;3:195418302-195683569 0.1142 chr3:195272344-195742942 dbVar;chr3:195340839-195456934 dbVar;3:195383143-195502119 esv2760775;chr3:195398446-195473245 dbVar;chr3:195417835-195445776 dbVar;3:195417836-195445776 1000g;3:195417836-195445776 1000g;3:195428197-195442889 nsv515001;chr3:195452012-195457240 dbVar;3:195452013-195457240 1000g;chr3:195453277-195456053 dbVar;3:195454692-195475463 DDD:12537;chr3:195456053-195475056 dbVar;3:195457000-195471300 gnomAD-SV_v2.1_DUP_3_10621;chr3:195457141-195468593 dbVar;3:195457142-195468593 1000g;chr3:195457285-195471001 dbVar;chr3:195466565-195475056 dbVar; 3:195240825-195502119 esv2763776;3:195320057-195470538 DDD:12519;3:195376589-195493533 TS40:ISCA-46592;3:195385823-195474165 DDD:12528;3:195417631-195471708 DDD:12530;3:195417836-195445776 1000g;3:195417836-195445776 1000g;3:195417836-195445776 dgv967e214;chr3:195452000-195457000 dbVar;3:195452013-195457240 1000g;3:195452013-195457240 dgv968e214;chr3:195453277-195475056 dbVar;chr3:195456053-195466565 dbVar;chr3:195457000-195471300 dbVar;chr3:195457000-195550000 dbVar;3:195457142-195468593 1000g;3:195457142-195468593 dgv969e214;chr3:195457816-195472945 dbVar;chr3:195471000-195476300 dbVar 3:195320057-195470538 DDD:12519;3:195383131-195446910 dgv5017n100;3:195385823-195474165 DDD:12528;chr3:195425199-195425686 dbVar;3:195454692-195475463 DDD:12537;3:195457142-195471062 dgv970e214;chr3:195457317-195471062 dbVar;chr3:195463643-195463762 dbVar 3:195240825-195502119 esv2763776;3:195380279-195469564 HI40:ISCA-46589;3:195383143-195502119 esv2760775;3:195417631-195471708 DDD:12530;chr3:195451991-195452447 dbVar;chr3:195457141-195468593 dbVar;3:195457249-195471074 dgv906e199;3:195457318-195471062 1000g 1158545;703362;668577;1066092;690004;794136;666582;674311;665255;915282;1019080;650094;650802;676953;689440;662061;669297;838978 gain;loss 0.470 0.415 3:195418975-195419071 MER3 3:195413607-195420395 3:195341901-195476900 High Signal Region 3:195341901-195476900 High Signal Region 95.22 6 4.7211e-03 -1.0 1A (cf Gene_count, RE_gene, +0.00);2F/4O (cf B_loss_source, -1.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);3A (3 genes, +0.00);5F (+0.00) 1 3_195419169_195472855_DEL_1 3 195419169 195472855 -53686 DEL Benign NA split q29 MIR570HG NR_122105 1 195415368 195438746 19578 0 0 no 5 intron2-txEnd UTR 2859 5' 195419168 195438746 1000g;DDD:12519;DDD:12528;DDD:12530;TS40:ISCA-46592;dbVar;dgv967e214;esv2760775;esv2763776 3:195240825-195502119;chr3:195272344-195742942;3:195320057-195470538;chr3:195340839-195456934;3:195376589-195493533;3:195383143-195502119;3:195385823-195474165;chr3:195398446-195473245;3:195417631-195471708;chr3:195417835-195445776;3:195417836-195445776;3:195417836-195445776;3:195417836-195445776;3:195417836-195445776;3:195417836-195445776 0.4682 DDD:12519;DDD:12528;DDD:12530;HI40:ISCA-46589;dgv5017n100;esv2760775;esv2763776 3:195240825-195502119;3:195320057-195470538;3:195380279-195469564;3:195383131-195446910;3:195383143-195502119;3:195385823-195474165;3:195417631-195471708 0.0746 IMH 3:195371562-197367616;3:195376259-197363816;3:195409822-195693354;3:195413625-195689159;3:195417390-195684632;3:195418302-195683569 0.1142 440993 full=1 3_195419169_195472855_DEL_1 3 195419169 195472855 -53686 DEL Benign NA split q29 MIR570 NR_030296 1 195426271 195426368 97 0 0 no 1 txStart-txEnd UTR 195426271 195426368 1000g;DDD:12519;DDD:12528;DDD:12530;TS40:ISCA-46592;dbVar;dgv967e214;esv2760775;esv2763776 3:195240825-195502119;chr3:195272344-195742942;3:195320057-195470538;chr3:195340839-195456934;3:195376589-195493533;3:195383143-195502119;3:195385823-195474165;chr3:195398446-195473245;3:195417631-195471708;chr3:195417835-195445776;3:195417836-195445776;3:195417836-195445776;3:195417836-195445776;3:195417836-195445776;3:195417836-195445776 0.4682 DDD:12519;DDD:12528;DDD:12530;HI40:ISCA-46589;dgv5017n100;esv2760775;esv2763776 3:195240825-195502119;3:195320057-195470538;3:195380279-195469564;3:195383131-195446910;3:195383143-195502119;3:195385823-195474165;3:195417631-195471708 0.0746 IMH 3:195371562-197367616;3:195376259-197363816;3:195409822-195693354;3:195413625-195689159;3:195417390-195684632;3:195418302-195683569 0.1142 693155 full=1 3_195419169_195472855_DEL_1 3 195419169 195472855 -53686 DEL Benign NA split q29 MUC20 NM_001282506 2 195447848 195460422 12574 2130 100 no 4 txStart-txEnd 5'UTR-3'UTR 195447848 195460422 DDD:12519;DDD:12528;DDD:12530;TS40:ISCA-46592;dbVar;esv2760775;esv2763776 3:195240825-195502119;chr3:195272344-195742942;3:195320057-195470538;3:195376589-195493533;3:195383143-195502119;3:195385823-195474165;chr3:195398446-195473245;3:195417631-195471708 0.0556 DDD:12519;DDD:12528;DDD:12530;HI40:ISCA-46589;esv2760775;esv2763776 3:195240825-195502119;3:195320057-195470538;3:195380279-195469564;3:195383143-195502119;3:195385823-195474165;3:195417631-195471708 0.0746 IMH 3:195371562-197367616;3:195376259-197363816;3:195409822-195693354;3:195413625-195689159;3:195417390-195684632;3:195418302-195683569 0.1142 95.22 200958 6 4.7211e-03 full=1 @@ -501,7 +501,7 @@ X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA spl 4_69392546_69462438_DEL_1 4 69392546 69462438 -69892 DEL Benign NA split q13.2 UGT2B17 NM_001077 4 69402890 69442040 39150 1593 100 no 7 txStart-txEnd 5'UTR-3'UTR 69402890 69442040 DDD:13999;dbVar;dgv1490e212;dgv5262n100;dgv5264n100 4:69360477-69485827;4:69364694-69524016;chr4:69365480-69553855;4:69371992-69489323;4:69371992-69540013;chr4:69373950-69490950 0.4178 1000g;DDD:13999;DDD:14001;DDD:14006;IMH;dbVar;dgv5262n100;dgv951e199;esv2421501;esv3600874;esv3893940;gnomAD-SV_v2.1_DEL_4_46338;nsv514223 4:69364694-69524016;4:69367085-69542363;4:69371992-69489323;4:69372046-69491392;4:69373660-69491275;chr4:69373811-69491113;4:69373811-69491113;4:69374942-69503681;chr4:69375591-69491543;4:69375592-69491543;4:69375592-69491543;4:69380302-69491200;4:69382081-69512905;4:69386966-69483317 0.8518 IMH 4:21758876-84442542;4:32219469-79170284 0.1946 1397960 gain 87.45 0.741987855668132 1.6951286981971 7367 601903 (Bone mineral density QTL 12, osteoporosis), 612560 (3) yes 5 9.6905e-08 1.0256e-02 full=1 6_266080_362290_DEL_1 6 266080 362290 -96210 DEL Benign NA full p25.3 DUSP22 LOC285766 IRF4 1 EXOC2 (morbid/RE=ABC_enhancer+EA_enhancer+GH_promoter_enhancer);FOXC1 (HI=3/morbid/RE=ABC_enhancer) dbVar:nssv15166690;dbVar:nssv15132417;dbVar:nssv15166692;dbVar:nssv15120571;dbVar:nssv17649861;dbVar:nssv15138806;dbVar:nssv15150238;dbVar:nssv15136852;dbVar:nssv15137715;dbVar:nssv15139508;dbVar:nssv15139953;dbVar:nssv15154408;dbVar:nssv15154409;dbVar:nssv15772668;dbVar:nssv15161578;dbVar:nssv15161859;nssv15161868;dbVar:nssv15132517;dbVar:nssv15133942;dbVar:nssv15135449;dbVar:nssv15131978;dbVar:nssv15168255;dbVar:nssv15124407;nssv15153178;dbVar:nssv15124483;dbVar:nssv16255328 6:60108-171054786;6:106432-18360826;6:108667-170980171;6:144958-5239414;6:149620-3951208;6:152635-14417234;6:152635-15732394;6:152635-6027780;6:155808-17058645;6:156975-11551050;6:156975-13081433;6:156975-13502033;6:156975-21955964;6:156975-23221621;6:156975-46757028;6:156976-170919482;6:163084-1951585;6:163084-2029765;6:163084-9525729;6:164361-13340113;6:165633-170919470;6:168776-24023234;6:255351-3189972;6:302184-3290583 0.06;0.53;0.06;1.89;2.53;0.67;0.62;1.64;0.57;0.84;0.74;0.72;0.44;0.42;0.21;0.06;5.38;5.15;1.03;0.73;0.06;0.40;3.28;2.01 dbVar:nssv15127418;dbVar:nssv15133557;dbVar:nssv15168254;dbVar:nssv15134981;dbVar:nssv15135893;dbVar:nssv15139184;dbVar:nssv16254736;dbVar:nssv15139679;dbVar:nssv15151182;dbVar:nssv16208808;dbVar:nssv15152915;dbVar:nssv15137052;dbVar:nssv15142299;dbVar:nssv15138353;dbVar:nssv18330309;dbVar:nssv15133558;dbVar:nssv15134713;dbVar:nssv15132439;dbVar:nssv15132039;dbVar:nssv15133559;dbVar:nssv15132182;dbVar:nssv15132440;dbVar:nssv15137716;dbVar:nssv15125242;dbVar:nssv15141126;dbVar:nssv15124398;dbVar:nssv15124411 6:60524-1768235;6:107683-4979015;6:108667-1505511;6:152635-5315912;6:152635-6027780;6:152635-6290037;6:152850-1888703;6:156975-13856156;6:156975-2030623;6:156975-2208360;6:156975-3398920;6:156975-4907926;6:156975-6417749;6:156975-7122992;6:156976-3718881;6:163084-2724845;6:163084-3459841;6:163084-5875635;6:163084-6063033;6:164634-5823834;6:164634-6284470;6:165676-9036267;6:170427-1622218;6:180960-2180143;6:195230-2117379;6:204010-11608587;6:204010-6447311 5.63;1.98;6.89;1.86;1.64;1.57;5.54;0.70;5.13;4.69;2.97;2.03;1.54;1.38;2.70;3.76;2.92;1.68;1.63;1.70;1.57;1.08;6.63;4.81;5.01;0.84;1.54 DDD:19553;DDD:19555;dbVar;dgv140e203;nsv514340 6:230528-373346;6:236002-373603;chr6:256313-383004;6:257333-380527;6:257354-382897 0.6839 DDD:19555;dbVar;dgv1701e212 chr6:180946-734275;6:236002-373603;6:254255-385771 0.1870 6:236002-373603 DDD:19555;6:253364-302293 dgv1695e212;chr6:256313-383004 dbVar;6:256503-293373 1000g;6:257333-380527 nsv514340;6:257354-294837 esv2421434;6:259529-339802 TS40:ISCA-37471;chr6:296702-383004 dbVar;chr6:305181-340601 dbVar;6:305182-340601 1000g;chr6:327586-368712 dbVar;6:327587-368712 1000g;6:344136-379149 DDD:19570 6:230528-373346 DDD:19553;6:253364-294911 dgv1694e212;chr6:256313-296702 dbVar;chr6:256502-293373 dbVar;6:256503-293373 dgv1157e214;6:257354-293393 DDD:19561;6:257354-382897 dgv140e203;6:294125-385771 dgv1705e212;6:298701-379015 esv2421645;6:305182-340601 1000g;6:305182-340601 dgv1158e214;6:327587-368712 1000g;6:327587-368712 dgv1159e214 6:236002-373603 DDD:19555;6:254255-385771 dgv1701e212;chr6:295586-296060 dbVar;chr6:295710-295782 dbVar;chr6:314312-314882 dbVar;chr6:340942-340994 dbVar; chr6:180946-734275 dbVar;6:252694-302294 dgv1693e212;6:259529-339802 HI40:ISCA-37471;6:295586-296060 gnomAD-SV_v2.1_DEL_6_65910;chr6:299088-299161 dbVar;chr6:329960-330054 dbVar;chr6:340943-340994 dbVar 857006;857659;609630;1938466;994363;887275;902698;2603845;857660;744870;744873;1429292;1807702;1591974;744881;746818;747174;1068500;1072273;1905160 gain;loss 0.365 0.315 6:266156-266836 L1MC3 6:362320-362381 MIRc 6:256601-382800 High Signal Region 6:256601-382800 High Signal Region 38.68 -1.35330421932959 -0.982727799381157 5 9.3421e-03 4.3071e-03 -1.0 1A (cf Gene_count, RE_gene, +0.00);2F/4O (cf B_loss_source, -1.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);3A (1 gene, +0.00);5F (+0.00) 1 6_266080_362290_DEL_1 6 266080 362290 -96210 DEL Benign NA split p25.3 DUSP22 NM_001286555 3 292486 351355 58869 618 100 no 7 txStart-txEnd 5'UTR-3'UTR 292486 351355 DDD:19553;DDD:19555;dbVar;dgv140e203;nsv514340 6:230528-373346;6:236002-373603;chr6:256313-383004;6:257333-380527;6:257354-382897 0.6839 DDD:19555;dbVar;dgv1701e212 chr6:180946-734275;6:236002-373603;6:254255-385771 0.1870 1938466;994363;887275;902698;857660;744870;744873;1429292;1591974;744881;746818;747174;1068500;1072273 loss;gain 38.68 -1.35330421932959 -0.982727799381157 56940 5 9.3421e-03 4.3071e-03 full=1 -8_7169491_7753583_DUP_1 8 7169491 7753583 584092 DUP Benign NA full p23.1 FAM66B;DEFB109B;USP17L1;USP17L4;ZNF705G;DEFB4B;DEFB103B;SPAG11B;DEFB104B;DEFB106B;DEFB105B;DEFB107B;PRR23D1;FAM90A7;FAM90A22;FAM90A23;FAM90A14;FAM90A18;FAM90A16;FAM90A8;FAM90A17;FAM90A19;FAM90A9;FAM90A10;PRR23D2;DEFB107A;DEFB105A;DEFB106A;DEFB104A;SPAG11A;DEFB103A;DEFB4A LINC00965 ZNF705B 32 MCPH1 (morbid/RE=ABC_enhancer+GH_promoter_enhancer) dbVar:nssv15169207;dbVar:nssv15128680;dbVar:nssv15161508;dbVar:nssv15161747;dbVar:nssv17976867;dbVar:nssv17957391;dbVar:nssv15154583;dbVar:nssv15161801;nssv15777239;nssv17976962;dbVar:nssv15154584;dbVar:nssv16206921;dbVar:nssv15154580;dbVar:nssv15161417;nssv15161657;dbVar:nssv15147671;dbVar:nssv15161846;dbVar:nssv15150473;dbVar:nssv15127651;dbVar:nssv15149098;dbVar:nssv15169210;dbVar:nssv15154582;dbVar:nssv15146537;dbVar:nssv15161807;dbVar:nssv15161553;dbVar:nssv15161105;dbVar:nssv15161095;dbVar:nssv15161561;dbVar:nssv15161078;dbVar:nssv15147455;dbVar:nssv16736635;dbVar:nssv15161269;dbVar:nssv15161748;dbVar:nssv15161749;dbVar:nssv15143576;dbVar:nssv15161775;dbVar:nssv15146180;dbVar:nssv15161087;dbVar:nssv15161068;dbVar:nssv15161792;dbVar:nssv15606063;dbVar:nssv15151542;dbVar:nssv15161084;dbVar:nssv16206931;dbVar:nssv15154577;dbVar:nssv15161089;dbVar:nssv15151538;dbVar:nssv15152254;dbVar:nssv18842054;dbVar:nssv15161540;dbVar:nssv15161727;dbVar:nssv15161764 8:10214-146293414;8:13939-146304022;8:46311-11879315;8:46311-30472220;8:158049-10348413;8:158049-11936107;8:158049-13974319;8:158049-146295771;8:158049-15423270;8:158049-8102819;8:158049-9750676;8:158050-146295771;8:158992-13304906;8:158992-146280828;8:158992-17536147;8:163683-46938942;8:164985-11860845;8:164985-146293414;8:168484-13147575;8:169854-10022996;8:176453-12556063;8:176453-12570496;8:176453-146294098;8:176453-16137655;8:176453-34349408;8:176453-37879246;8:176453-7838959;8:176815-43396776;8:191531-146274835;8:191531-146280020;8:191531-17536206;8:191531-22404983;8:191531-23055911;8:191531-7752586;8:191606-146280167;8:191606-24514484;8:191606-30948590;8:194618-13947374;8:1825201-24533193;8:6961184-12157391;8:6999220-11895232;8:6999220-11898980;8:6999220-38553064;8:6999220-8881836;8:7053187-11805960;8:7080282-12045269;8:7169491-12404062;8:7268820-12039974;8:7691902-12039974 0.40;0.40;4.94;1.92;5.73;4.96;4.23;0.40;3.83;7.35;6.09;0.40;4.44;0.40;3.36;1.25;4.99;0.40;4.50;5.93;4.72;4.71;0.40;3.66;1.71;1.55;7.62;1.35;0.40;0.40;3.37;2.63;2.55;7.71;0.40;2.40;1.90;4.25;2.57;11.24;11.93;11.92;1.85;31.03;12.29;11.76;11.16;10.16;1.42 dbVar:nssv15168702;dbVar:nssv15169206;dbVar:nssv18842057;dbVar:nssv17956019;dbVar:nssv15154581;dbVar:nssv18326425;dbVar:nssv15149861;dbVar:nssv15775686;dbVar:nssv17976739;dbVar:nssv16208166;dbVar:nssv15774257;dbVar:nssv15149509;dbVar:nssv18330306;dbVar:nssv18329623;dbVar:nssv16216869;dbVar:nssv15169209;dbVar:nssv15223191;dbVar:nssv15147275;dbVar:nssv15148964;dbVar:nssv15147296;dbVar:nssv15146181;nssv15146816;dbVar:nssv15606064;dbVar:nssv15146660;dbVar:nssv18841910;dbVar:nssv15161264;nssv15161582;dbVar:nssv15145917;dbVar:nssv15161283;dbVar:nssv15161284;dbVar:nssv15161070;dbVar:nssv15141976;dbVar:nssv15161050 8:10214-10197718;8:10214-8948469;8:10502-11142629;8:10502-7214947;8:158049-10939681;8:158049-11281408;8:158049-13309069;8:158049-14214722;8:158049-30187456;8:158049-9025197;8:158049-9393052;8:158049-9749574;8:158050-10965627;8:158050-18936715;8:161517-11516619;8:164985-10007227;8:176815-7753583;8:191531-10049105;8:191531-10315994;8:191531-10724642;8:191531-7752586;8:194618-7787444;8:360370-7334625;8:399894-23712417;8:2292236-27361796;8:3791728-11384448;8:7053187-12241152;8:7092360-12372324;8:7169491-12404062;8:7268820-11805960;8:7268820-11819316 5.73;6.53;5.25;0.63;5.42;5.25;4.44;4.16;1.95;6.59;6.32;6.09;5.40;3.11;5.14;5.93;7.71;5.93;5.77;5.55;7.71;7.69;2.37;2.51;2.33;7.69;11.26;11.06;11.16;10.68;10.65 DDD:26674;TS40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 8:6858816-8072303 esv2761169;8:6985776-7230992 DDD:26670;8:7035907-7428513 DDD:26675;8:7154889-7213289 DDD:26682;chr8:7159226-7201223 dbVar;8:7170611-7177489 nsv515099;chr8:7190000-7195000 dbVar;8:7201176-7392220 DDD:26689;chr8:7212582-7227421 dbVar;8:7212583-7227421 1000g;8:7212583-7227421 TS40:ISCA-46631;8:7241528-7403182 nsv515100;8:7250369-7832042 dgv6936n100;chr8:7355000-7365050 dbVar;8:7401394-7472190 DDD:26720;chr8:7404000-7437650 dbVar;chr8:7525167-7633135 dbVar;chr8:7525167-8097772 dbVar;chr8:7573000-7626700 dbVar;8:7632945-7856630 DDD:26727... chr8:6828277-7474073 dbVar;8:6959834-8600711 esv2764098;8:7024892-8031414 DDD:26674;8:7053187-8130689 TS40:ISCA-37472;chr8:7159226-7187516 dbVar;chr8:7159226-7474073 dbVar;chr8:7187516-7201223 dbVar;8:7190891-7190961 DDD:26685;chr8:7206400-7253000 dbVar;8:7212583-7227421 1000g;8:7212583-7227421 1000g;8:7212583-7227421 dgv1365e214;chr8:7243000-7356000 dbVar;8:7308244-7308706 DDD:26704;chr8:7365000-7404400 dbVar;chr8:7403133-7474073 dbVar;chr8:7424800-7474000 dbVar;chr8:7525167-7866528 dbVar;chr8:7532000-7545000 dbVar;chr8:7608000-7649500 dbVar... 8:6959834-8600711 esv2764098;8:7024892-8031414 DDD:26674;8:7053187-8130689 HI40:ISCA-37472;8:7154889-7213289 DDD:26682;8:7158202-7189800 DDD:26683;chr8:7179582-7191032 dbVar;8:7179583-7191032 esv3616115;8:7190891-7190961 DDD:26685;chr8:7201000-7206400 dbVar;chr8:7204184-7204308 dbVar;8:7212583-7227421 1000g;chr8:7221359-7221602 dbVar;8:7228000-7235000 gnomAD-SV_v2.1_DEL_8_89335;chr8:7286205-7286328 dbVar;chr8:7326402-7326559 dbVar;8:7355000-7363000 gnomAD-SV_v2.1_DEL_8_89340;8:7355294-7364762 1000g;8:7401394-7472190 DDD:26720;8:7402900-7419700 gnomAD-SV_v2.1_DEL_8_89341;8:7405950-7443050 gnomAD-SV_v2.1_DEL_8_89342... 8:6858816-8072303 esv2761169;8:6985776-7230992 DDD:26670;8:7035907-7428513 DDD:26675;chr8:7085462-7537934 dbVar;8:7158046-7189992 esv2675221;chr8:7175745-7175870 dbVar;8:7179583-7191032 1000g;chr8:7180382-7180743 dbVar;8:7190892-7196288 DDD:26687;8:7201000-7206400 gnomAD-SV_v2.1_DEL_8_89332;chr8:7212582-7227421 dbVar;8:7212583-7227421 esv3616116;chr8:7228000-7235000 dbVar;chr8:7276552-7277128 dbVar;8:7308244-7308706 DDD:26704;chr8:7355000-7363000 dbVar;chr8:7355293-7364762 dbVar;8:7355294-7364762 esv3616120;chr8:7402900-7419700 dbVar;chr8:7405950-7443050 dbVar... 674618;1021421;1021422;646653;1520679;1915732;3052323;2599287;832406;665154;653853;679166;678976;663306;700319;654990;679312;646920;863772;653647;649616;671308;658988;675704;1023557;678564;857770;745967;654991;676140;783310;824013;870858;820152;834536;871873;875246;654992;701040;665155;745968;682446;745969;702113;890458;732002;921361;909011;880183;1018294;925302;... loss;gain 0.260 0.330 8:7150797-7184572;8:7150797-7195814;8:7150797-7200543;8:7150798-7238459 8:7600001-7825413 8:7012601-8066200 High Signal Region 8:7012601-8066200 High Signal Region 99.72 2.14121257165536 2.19863945242443 yes yes 8 4.2180e-01 5.1947e-01 -1.0 1A (cf Gene_count, RE_gene, +0.00);2D (cf B_gain_source, -1.00);2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00);2E (cf B_gain_source, +0.00);2J (DEFB4A, +0.00);2L (FAM66B, +0.00);3A (32 genes, +0.00);5F (+0.00) 1 +8_7169491_7753583_DUP_1 8 7169491 7753583 584092 DUP Benign NA full p23.1 FAM66B;DEFB109B;USP17L1;USP17L4;ZNF705G;DEFB4B;DEFB103B;SPAG11B;DEFB104B;DEFB106B;DEFB105B;DEFB107B;PRR23D1;FAM90A7;FAM90A22;FAM90A23;FAM90A14;FAM90A18;FAM90A16;FAM90A8;FAM90A17;FAM90A19;FAM90A9;FAM90A10;PRR23D2;DEFB107A;DEFB105A;DEFB106A;DEFB104A;SPAG11A;DEFB103A;DEFB4A LINC00965 ZNF705B 32 MCPH1 (morbid/RE=ABC_enhancer+GH_promoter_enhancer) dbVar:nssv15169207;dbVar:nssv15128680;dbVar:nssv15161508;dbVar:nssv15161747;dbVar:nssv17976867;dbVar:nssv17957391;dbVar:nssv15154583;dbVar:nssv15161801;nssv15777239;nssv17976962;dbVar:nssv15154584;dbVar:nssv16206921;dbVar:nssv15154580;dbVar:nssv15161417;nssv15161657;dbVar:nssv15147671;dbVar:nssv15161846;dbVar:nssv15150473;dbVar:nssv15127651;dbVar:nssv15149098;dbVar:nssv15169210;dbVar:nssv15154582;dbVar:nssv15146537;dbVar:nssv15161807;dbVar:nssv15161553;dbVar:nssv15161105;dbVar:nssv15161095;dbVar:nssv15161561;dbVar:nssv15161078;dbVar:nssv15147455;dbVar:nssv16736635;dbVar:nssv15161269;dbVar:nssv15161748;dbVar:nssv15161749;dbVar:nssv15143576;dbVar:nssv15161775;dbVar:nssv15146180;dbVar:nssv15161087;dbVar:nssv15161068;dbVar:nssv15161792;dbVar:nssv15606063;dbVar:nssv15151542;dbVar:nssv15161084;dbVar:nssv16206931;dbVar:nssv15154577;dbVar:nssv15161089;dbVar:nssv15151538;dbVar:nssv15152254;dbVar:nssv18842054;dbVar:nssv15161540;dbVar:nssv15161727;dbVar:nssv15161764 8:10214-146293414;8:13939-146304022;8:46311-11879315;8:46311-30472220;8:158049-10348413;8:158049-11936107;8:158049-13974319;8:158049-146295771;8:158049-15423270;8:158049-8102819;8:158049-9750676;8:158050-146295771;8:158992-13304906;8:158992-146280828;8:158992-17536147;8:163683-46938942;8:164985-11860845;8:164985-146293414;8:168484-13147575;8:169854-10022996;8:176453-12556063;8:176453-12570496;8:176453-146294098;8:176453-16137655;8:176453-34349408;8:176453-37879246;8:176453-7838959;8:176815-43396776;8:191531-146274835;8:191531-146280020;8:191531-17536206;8:191531-22404983;8:191531-23055911;8:191531-7752586;8:191606-146280167;8:191606-24514484;8:191606-30948590;8:194618-13947374;8:1825201-24533193;8:6961184-12157391;8:6999220-11895232;8:6999220-11898980;8:6999220-38553064;8:6999220-8881836;8:7053187-11805960;8:7080282-12045269;8:7169491-12404062;8:7268820-12039974;8:7691902-12039974 0.40;0.40;4.94;1.92;5.73;4.96;4.23;0.40;3.83;7.35;6.09;0.40;4.44;0.40;3.36;1.25;4.99;0.40;4.50;5.93;4.72;4.71;0.40;3.66;1.71;1.55;7.62;1.35;0.40;0.40;3.37;2.63;2.55;7.71;0.40;2.40;1.90;4.25;2.57;11.24;11.93;11.92;1.85;31.03;12.29;11.76;11.16;10.16;1.42 dbVar:nssv15168702;dbVar:nssv15169206;dbVar:nssv18842057;dbVar:nssv17956019;dbVar:nssv15154581;dbVar:nssv18326425;dbVar:nssv15149861;dbVar:nssv15775686;dbVar:nssv17976739;dbVar:nssv16208166;dbVar:nssv15774257;dbVar:nssv15149509;dbVar:nssv18330306;dbVar:nssv18329623;dbVar:nssv16216869;dbVar:nssv15169209;dbVar:nssv15223191;dbVar:nssv15147275;dbVar:nssv15148964;dbVar:nssv15147296;dbVar:nssv15146181;nssv15146816;dbVar:nssv15606064;dbVar:nssv15146660;dbVar:nssv18841910;dbVar:nssv15161264;nssv15161582;dbVar:nssv15145917;dbVar:nssv15161283;dbVar:nssv15161284;dbVar:nssv15161070;dbVar:nssv15141976;dbVar:nssv15161050 8:10214-10197718;8:10214-8948469;8:10502-11142629;8:10502-7214947;8:158049-10939681;8:158049-11281408;8:158049-13309069;8:158049-14214722;8:158049-30187456;8:158049-9025197;8:158049-9393052;8:158049-9749574;8:158050-10965627;8:158050-18936715;8:161517-11516619;8:164985-10007227;8:176815-7753583;8:191531-10049105;8:191531-10315994;8:191531-10724642;8:191531-7752586;8:194618-7787444;8:360370-7334625;8:399894-23712417;8:2292236-27361796;8:3791728-11384448;8:7053187-12241152;8:7092360-12372324;8:7169491-12404062;8:7268820-11805960;8:7268820-11819316 5.73;6.53;5.25;0.63;5.42;5.25;4.44;4.16;1.95;6.59;6.32;6.09;5.40;3.11;5.14;5.93;7.71;5.93;5.77;5.55;7.71;7.69;2.37;2.51;2.33;7.69;11.26;11.06;11.16;10.68;10.65 DDD:26674;TS40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 8:6858816-8072303 esv2761169;8:6985776-7230992 DDD:26670;8:7035907-7428513 DDD:26675;8:7154889-7213289 DDD:26682;chr8:7159226-7201223 dbVar;8:7170611-7177489 nsv515099;chr8:7190000-7195000 dbVar;8:7201176-7392220 DDD:26689;chr8:7212582-7227421 dbVar;8:7212583-7227421 1000g;8:7212583-7227421 TS40:ISCA-46631;8:7241528-7403182 nsv515100;8:7250369-7832042 dgv6936n100;chr8:7355000-7365050 dbVar;8:7401394-7472190 DDD:26720;chr8:7404000-7437650 dbVar;chr8:7525167-7633135 dbVar;chr8:7525167-8097772 dbVar;chr8:7573000-7626700 dbVar;8:7632945-7856630 DDD:26727... chr8:6828277-7474073 dbVar;8:6959834-8600711 esv2764098;8:7024892-8031414 DDD:26674;8:7053187-8130689 TS40:ISCA-37472;chr8:7159226-7187516 dbVar;chr8:7159226-7474073 dbVar;chr8:7187516-7201223 dbVar;8:7190891-7190961 DDD:26685;chr8:7206400-7253000 dbVar;8:7212583-7227421 1000g;8:7212583-7227421 1000g;8:7212583-7227421 dgv1365e214;chr8:7243000-7356000 dbVar;8:7308244-7308706 DDD:26704;chr8:7365000-7404400 dbVar;chr8:7403133-7474073 dbVar;chr8:7424800-7474000 dbVar;chr8:7525167-7866528 dbVar;chr8:7532000-7545000 dbVar;chr8:7608000-7649500 dbVar... 8:6959834-8600711 esv2764098;8:7024892-8031414 DDD:26674;8:7053187-8130689 HI40:ISCA-37472;8:7154889-7213289 DDD:26682;8:7158202-7189800 DDD:26683;chr8:7179582-7191032 dbVar;8:7179583-7191032 esv3616115;8:7190891-7190961 DDD:26685;chr8:7201000-7206400 dbVar;chr8:7204184-7204308 dbVar;8:7212583-7227421 1000g;chr8:7221359-7221602 dbVar;8:7228000-7235000 gnomAD-SV_v2.1_DEL_8_89335;chr8:7286205-7286328 dbVar;chr8:7326402-7326559 dbVar;8:7355000-7363000 gnomAD-SV_v2.1_DEL_8_89340;8:7355294-7364762 1000g;8:7401394-7472190 DDD:26720;8:7402900-7419700 gnomAD-SV_v2.1_DEL_8_89341;8:7405950-7443050 gnomAD-SV_v2.1_DEL_8_89342... 8:6858816-8072303 esv2761169;8:6985776-7230992 DDD:26670;8:7035907-7428513 DDD:26675;chr8:7085462-7537934 dbVar;8:7158046-7189992 esv2675221;chr8:7175745-7175870 dbVar;8:7179583-7191032 1000g;chr8:7180382-7180743 dbVar;8:7190892-7196288 DDD:26687;8:7201000-7206400 gnomAD-SV_v2.1_DEL_8_89332;chr8:7212582-7227421 dbVar;8:7212583-7227421 esv3616116;chr8:7228000-7235000 dbVar;chr8:7276552-7277128 dbVar;8:7308244-7308706 DDD:26704;chr8:7355000-7363000 dbVar;chr8:7355293-7364762 dbVar;8:7355294-7364762 esv3616120;chr8:7402900-7419700 dbVar;chr8:7405950-7443050 dbVar... 674618;1021421;1021422;646653;1520679;1915732;3052323;2599287;832406;665154;653853;679166;678976;663306;700319;654990;679312;646920;863772;653647;649616;671308;658988;675704;1023557;678564;857770;745967;654991;676140;783310;824013;870858;820152;834536;871873;875246;654992;701040;665155;745968;682446;745969;702113;890458;732002;921361;909011;880183;1018294;925302;... loss;gain 0.260 0.330 8:7150797-7184572;8:7150797-7195814;8:7150797-7200543;8:7150798-7238459 8:7600001-7825413 8:7012601-8066200 High Signal Region 8:7012601-8066200 High Signal Region 99.72 2.14121257165536 2.19863945242443 8 4.2180e-01 5.1947e-01 -1.0 1A (cf Gene_count, RE_gene, +0.00);2D (cf B_gain_source, -1.00);2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00);2E (cf B_gain_source, +0.00);2L (DEFB4A/FAM66B, +0.00);3A (32 genes, +0.00);5F (+0.00) 1 8_7169491_7753583_DUP_1 8 7169491 7753583 584092 DUP Benign NA split p23.1 FAM66B NR_027423 2 7156265 7212885 43395 0 0 no 7 txStart-intron6 UTR 9797 3' 7169490 7212885 DDD:26670;DDD:26674;DDD:26675;DDD:26682;TS40:ISCA-37472;dbVar;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289;chr8:7159226-7474073 0.2355 DDD:26670;DDD:26674;DDD:26675;DDD:26682;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934;8:7154889-7213289 0.2237 100128890 full=1 8_7169491_7753583_DUP_1 8 7169491 7753583 584092 DUP Benign NA split p23.1 DEFB109B NM_001037380 2 7170243 7177618 7375 264 100 no 2 txStart-txEnd 5'UTR-3'UTR 7170243 7177618 DDD:26670;DDD:26674;DDD:26675;DDD:26682;TS40:ISCA-37472;dbVar;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289;chr8:7159226-7187516;chr8:7159226-7201223;chr8:7159226-7474073 0.2355 DDD:26670;DDD:26674;DDD:26675;DDD:26682;DDD:26683;HI40:ISCA-37472;dbVar;esv2675221;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934;8:7154889-7213289;8:7158046-7189992;8:7158202-7189800 0.2237 641517 full=1 8_7169491_7753583_DUP_1 8 7169491 7753583 584092 DUP Benign NA split p23.1 USP17L1 NM_001256873 1 7189908 7191501 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 7189908 7191501 DDD:26670;DDD:26674;DDD:26675;DDD:26682;TS40:ISCA-37472;dbVar;esv2761169;esv2764098 chr8:6828277-7474073;8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289;chr8:7159226-7201223;chr8:7159226-7474073;chr8:7187516-7201223 0.2355 DDD:26670;DDD:26674;DDD:26675;DDD:26682;HI40:ISCA-37472;dbVar;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;chr8:7085462-7537934;8:7154889-7213289 0.2237 401447 full=1 @@ -533,7 +533,7 @@ X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA spl 8_7169491_7753583_DUP_1 8 7169491 7753583 584092 DUP Benign NA split p23.1 DEFB104A NM_080389 3 7693957 7698764 4807 219 100 no 2 txStart-txEnd 5'UTR-3'UTR 7693957 7698764 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 96.98 1.33624136747443 2.19863945242443 140596 9 9.3748e-02 5.1947e-01 full=1 8_7169491_7753583_DUP_1 8 7169491 7753583 584092 DUP Benign NA split p23.1 SPAG11A NM_001395484 1 7705529 7718465 12936 402 100 no 3 txStart-txEnd 5'UTR-3'UTR 7705529 7718465 DDD:26674;DDD:26727;DDD:26729;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630 0.2237 97.15 0.140072348156658 0.903069021299127 653423 9 6.9645e-05 3.9012e-02 full=1 8_7169491_7753583_DUP_1 8 7169491 7753583 584092 DUP Benign NA split p23.1 DEFB103A NM_001081551 4 7738913 7740185 1272 204 100 no 2 txStart-txEnd 5'UTR-3'UTR 7738913 7740185 DDD:26674;DDD:26727;DDD:26729;DDD:26742;DDD:26743;TS40:ISCA-37472;TS40:ISCA-46381;dbVar;dgv6936n100;esv2761169;esv2764098;gnomAD-SV_v2.1_DUP_8_23708 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839;8:7718891-7784263;8:7734213-7856702;8:7737000-7743100;chr8:7737000-7743100;8:7737000-7743100 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;HI40:ISCA-46380;dbVar;esv2761169;esv2764098;gnomAD-SV_v2.1_DEL_8_89353 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630;8:7736500-7764500;chr8:7736500-7764500;8:7736500-7764500 0.3262 93.4 414325 full=1 -8_7169491_7753583_DUP_1 8 7169491 7753583 584092 DUP Benign NA split p23.1 DEFB4A NM_004942 4 7752198 7754238 1385 58 29 yes 2 txStart-intron1 5'UTR-CDS 412 3' 7752198 7753583 DDD:26674;DDD:26727;DDD:26729;DDD:26742;DDD:26743;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839;8:7718891-7784263;8:7734213-7856702 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;HI40:ISCA-46380;HI40:ISCA-46382;dbVar;esv2761169;esv2764098;gnomAD-SV_v2.1_DEL_8_89353;gnomAD-SV_v2.1_DEL_8_89355 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630;8:7736500-7764500;chr8:7736500-7764500;8:7736500-7764500;8:7745000-7754100;chr8:7745000-7754100;8:7745000-7754100 0.5182 97.87 1.12959151611996 0.758429673080804 1673 yes yes 9 1.1637e-03 3.9981e-01 full=1 +8_7169491_7753583_DUP_1 8 7169491 7753583 584092 DUP Benign NA split p23.1 DEFB4A NM_004942 4 7752198 7754238 1385 58 29 yes 2 txStart-intron1 5'UTR-CDS 412 3' 7752198 7753583 DDD:26674;DDD:26727;DDD:26729;DDD:26742;DDD:26743;TS40:ISCA-37472;dbVar;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;chr8:7525167-7866528;chr8:7525167-8097772;8:7632945-7856630;chr8:7633800-7810300;8:7634705-7829839;8:7718891-7784263;8:7734213-7856702 0.2355 DDD:26674;DDD:26727;HI40:ISCA-37472;HI40:ISCA-46380;HI40:ISCA-46382;dbVar;esv2761169;esv2764098;gnomAD-SV_v2.1_DEL_8_89353;gnomAD-SV_v2.1_DEL_8_89355 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7632945-7856630;8:7736500-7764500;chr8:7736500-7764500;8:7736500-7764500;8:7745000-7754100;chr8:7745000-7754100;8:7745000-7754100 0.5182 97.87 1.12959151611996 0.758429673080804 1673 9 1.1637e-03 3.9981e-01 full=1 8_141035364_141061798_DEL_1 8 141035364 141061798 -26434 DEL DI AR Pathogenic NA full q24.3 TRAPPC9 C8orf17 PEG13 1 KCNK9 (morbid/RE=ABC_enhancer+GH_enhancer) dbVar:nssv15169207;dbVar:nssv15128680;dbVar:nssv15161801;nssv15777239;nssv17976962;dbVar:nssv15161417;nssv15161657;dbVar:nssv15161846;dbVar:nssv15169210;dbVar:nssv15161105;dbVar:nssv15161269;dbVar:nssv15161748;dbVar:nssv15161087;dbVar:nssv15161426;dbVar:nssv15161357;dbVar:nssv15777249;dbVar:nssv18326351;dbVar:nssv17970300;dbVar:nssv15161337;dbVar:nssv15161103;dbVar:nssv17977109;dbVar:nssv15161374;dbVar:nssv15161674;dbVar:nssv15161669;dbVar:nssv15161791;dbVar:nssv15161680;dbVar:nssv15161065;dbVar:nssv17976072;dbVar:nssv15161091;dbVar:nssv15161853;dbVar:nssv15161352;dbVar:nssv15161104;dbVar:nssv15161722;dbVar:nssv15161428;dbVar:nssv16208199;dbVar:nssv15162410;dbVar:nssv15773510;dbVar:nssv15774288;dbVar:nssv15161330;dbVar:nssv15161750;dbVar:nssv16206976;dbVar:nssv15161266;dbVar:nssv17970325;dbVar:nssv15131822;dbVar:nssv18841906;dbVar:nssv15161331;dbVar:nssv15143620;dbVar:nssv15161849;dbVar:nssv15775349;dbVar:nssv15161867;dbVar:nssv15775091;dbVar:nssv15161075;dbVar:nssv15161551 8:10214-146293414;8:13939-146304022;8:158049-146295771;8:158050-146295771;8:158992-146280828;8:164985-146293414;8:176453-146294098;8:191531-146274835;8:191531-146280020;8:191606-146280167;8:12491000-146295771;8:21149034-146295771;8:31936552-146295771;8:68912433-146295771;8:70382991-146295771;8:78392287-146294098;8:79526313-146280020;8:84712254-146295771;8:86778229-146295771;8:86841155-146295771;8:86841229-142689874;8:88943381-146294098;8:93047483-141355635;8:95694383-146294042;8:96496504-146295711;8:98395102-146295771;8:98432251-146222672;8:101879572-146295771;8:104318565-146294098;8:114592632-146280020;8:114853127-146295771;8:121042468-146295771;8:121694650-146295771;8:122193547-146295771;8:125496224-146295771;8:125510740-146294098;8:125526332-146280020;8:128877996-146295771;8:129233159-146274835;8:130863094-146295771;8:131127765-142238309;8:131138344-143473913;8:131651429-146294098;8:131682564-146280020;8:134825278-146280828;8:136059860-146295771;8:136378790-146295771;8:139188798-146295771;8:140016462-146274835;8:140249068-146294098 0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.03;0.03;0.04;0.04;0.04;0.04;0.04;0.05;0.05;0.05;0.05;0.05;0.06;0.06;0.06;0.06;0.08;0.08;0.10;0.11;0.11;0.13;0.13;0.13;0.15;0.16;0.17;0.24;0.21;0.18;0.18;0.23;0.26;0.27;0.37;0.42;0.44 Intellectual developmental disorder, AR 13, 613192 (3) AR dbVar:nssv16208202;dbVar:nssv15127815;morbid:TRAPPC9 8:126892815-143750028;8:127638607-144388560;8:140739968-141468678 0.16;0.16;3.63 dbVar chr8:140980774-141135131 0.01 chr8:141040435-141042904 dbVar chr8:140980774-141135131 dbVar 0.535 0.380 8:141035378-141035461;8:141035462-141035486 MER58C;(CAAAA)n 53.39 0.107633755409335 -1.97676981971355 -1.34878674017516 -0.190632175596259 1.58912949219012 611966 yes 3 2.2898e-14 5.7604e-06 -1.0 1A (cf Gene_count, RE_gene, +0.00);2F/4O (cf B_loss_source, -1.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);3A (1 gene, +0.00);5F (+0.00) 1 8_141035364_141061798_DEL_1 8 141035364 141061798 -26434 DEL DI AR Pathogenic NA split q24.3 TRAPPC9 NM_001160372 4 140739967 141467843 26435 0 0 no 23 intron17-intron17 CDS 1187 3' 141035363 141061798 dbVar chr8:140980774-141135131 0.01 30 0 53.39 0.107633755409335 -1.97676981971355 -1.34878674017516 -0.190632175596259 1.58912949219012 autosomal recessive non-syndromic intellectual disability;intellectual disability, autosomal recessive 13;intellectual disability-obesity-brain malformations-facial dysmorphism syndrome AR Definitive;Moderate;Strong;Supportive 17120046;2000476;20004763;20004764;20004765;20004765[PMID]_20004763[PMID]_20004765[PMID];22549410;22549410[PMID] 83696 611966 Intellectual developmental disorder, AR 13, 613192 (3) AR AR yes 3 2.2898e-14 5.7604e-06 full=1 14_107152093_107180095_DEL_1 14 107152093 107180095 -28002 DEL Benign NA full q32.33 LINC00221 MIR5195 0 dbVar:nssv15162475;dbVar:nssv15161908;dbVar:nssv15162476;dbVar:nssv15161629;dbVar:nssv15161107;nssv15161424;dbVar:nssv15161067;dbVar:nssv15161689;dbVar:nssv15161760;dbVar:nssv15161081;dbVar:nssv18330720;dbVar:nssv15161039;dbVar:nssv15161040;dbVar:nssv15777241;dbVar:nssv15125898;dbVar:nssv15161535;dbVar:nssv15777234;dbVar:nssv15161537;dbVar:nssv15606082;dbVar:nssv15161360;dbVar:nssv15135151 14:19000423-107289053;14:19280734-107287663;14:19327824-107287663;14:19794562-107234280;14:20511674-107285437;14:20619309-107263478;14:73750742-107285437;14:74122476-107287505;14:77689139-107287505;14:84537503-107285437;14:86560375-107240869;14:91922206-107240869;14:91969029-107285437;14:93331785-107289540;14:98104858-107263478;14:99794231-107285437;14:99914350-107258824;14:100575918-107281934;14:103788752-107263478;14:106252706-107263478 0.03;0.03;0.03;0.03;0.03;0.03;0.08;0.08;0.09;0.12;0.14;0.18;0.18;0.20;0.31;0.37;0.38;0.42;0.81;2.77 dbVar:nssv15161324;dbVar:nssv16215328;dbVar:nssv15161030;dbVar:nssv15161062;dbVar:nssv15142554;dbVar:nssv15161267;dbVar:nssv15161579;dbVar:nssv15161268;dbVar:nssv17968992;dbVar:nssv15161102;dbVar:nssv15161557;dbVar:nssv16255573;dbVar:nssv15142555;dbVar:nssv15161354;dbVar:nssv18841864;dbVar:nssv15777252;dbVar:nssv15161369;dbVar:nssv15141232;nssv16208943;dbVar:nssv18830964;dbVar:nssv15150359;dbVar:nssv15161271;dbVar:nssv15161574;dbVar:nssv15161803;dbVar:nssv16208399;dbVar:nssv15142293;dbVar:nssv16208400;dbVar:nssv15120383;dbVar:nssv15137946 14:95990745-107287708;14:96829291-107287663;14:98404975-107263478;14:100297993-107263478;14:100661320-107285437;14:100775720-107263478;14:101048397-107285437;14:101274638-107263478;14:101732159-107285437;14:102131940-107263478;14:102392008-107284531;14:102615954-107285437;14:102670707-107285437;14:102705760-107285437;14:102729778-107283138;14:102931120-107285437;14:103071434-107287505;14:103153638-107285437;14:103636648-107285437;14:103965060-107285437;14:104251096-107278770;14:104289938-107287505;14:104517596-107285437;14:104764079-107285437;14:104915609-107285437;14:105303585-107285437;14:105489734-107258965;14:106252706-107287505 0.25;0.27;0.32;0.40;0.42;0.43;0.45;0.47;0.50;0.55;0.57;0.60;0.61;0.61;0.61;0.64;0.66;0.68;0.77;0.84;0.92;0.93;1.01;1.11;1.18;1.41;1.58;2.71 DDD:43963;TS40:ISCA-37477;dbVar;esv2760346 14:106050001-107289540;14:106437088-107285437;14:107136632-107191499;chr14:107146792-107184013 0.0828 DDD:43904;DDD:43963;HI40:ISCA-37477;esv2760346 14:106050001-107289540;14:106437088-107285437;14:106700994-107266403;14:107136632-107191499 0.2438 14:106437088-107285437 esv2760346;14:107136632-107191499 DDD:43963;chr14:107138985-107167914 dbVar;14:107145552-107179808 dgv699e212;chr14:107146792-107155491 dbVar;14:107147167-107164532 TS40:ISCA-46684;chr14:107160195-107167914 dbVar;chr14:107169033-107171740 dbVar;chr14:107169033-107184013 dbVar;chr14:107170011-107184013 dbVar;chr14:107171740-107184013 dbVar;chr14:107171740-107186229 dbVar 14:106050001-107289540 TS40:ISCA-37477;14:106874357-107164992 IMH;chr14:107137417-107155491 dbVar;chr14:107138985-107170011 dbVar;chr14:107145774-107155491 dbVar;chr14:107146792-107184013 dbVar;14:107147167-107164532 dgv428e214;chr14:107160195-107169033 dbVar;chr14:107169033-107177012 dbVar;chr14:107170011-107171740 dbVar;chr14:107170011-107185374 dbVar;chr14:107171740-107185374 dbVar 14:106437088-107285437 esv2760346;14:107054315-107166266 DDD:43951;chr14:107138985-107155491 dbVar;14:107172849-107183396 HI40:ISCA-46673;14:107174372-107174933 IMH;14:107174399-107174927 DDD:43974; 14:106050001-107289540 HI40:ISCA-37477;14:106700994-107266403 DDD:43904;14:107136632-107191499 DDD:43963;chr14:107171543-107171645 dbVar;14:107172849-107183396 esv3635707;14:107174391-107174931 esv3635708;14:107174399-107174927 esv2665347 0.355 0.425 14:107151001-107176900 High Signal Region -1.6 1B (cf Gene_count, RE_gene, -0.60);2F/4O (cf B_loss_source, -1.00);2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00);3A (0 gene, +0.00);5F (+0.00) 1 diff --git a/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.vcf b/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.vcf index db2c9e7..2834a0f 100644 --- a/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.vcf +++ b/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.vcf @@ -1,6 +1,6 @@ ##fileformat=VCFv4.2 -##fileDate=14/05/2024 -##inputFile=/enadisk/gstock/LGM/analysisOfSV/AnnotSV/AnnotSV_3.4.1/share/doc/AnnotSV/Example/test.annotated.tsv +##fileDate=29/08/2024 +##inputFile=/gstock/LGM/analysisOfSV/AnnotSV/AnnotSV_3.4.1/share/doc/AnnotSV/Example/test.annotated.tsv ##source=variantconvert from AnnotSV ##variantconvertVersion=2.0.1 ##variantconvertMode=combined @@ -239,41 +239,41 @@ 1 149041934 . T . PASS AnnotSV_ID=1_149041934_149209289_DEL_1;SV_start=149041934;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=q21.2;Gene_name=RNVU1-17;Closest_left=LSP1P5;Closest_right=RNVU1-18;Gene_count=1;Tx=.,NR_104078;Tx_version=.,1;Tx_start=.,149194105;Tx_end=.,149194269;Overlapped_tx_length=.,164;Overlapped_CDS_length=.,0;Overlapped_CDS_percent=.,0;Frameshift=.,no;Exon_count=.,1;Location=.,txStart-txEnd;Location2=.,UTR;Intersect_start=.,149194105;Intersect_end=.,149194269;po_P_gain_source=dbVar:nssv15156967|dbVar:nssv15156970|dbVar:nssv15149867|nssv15151118|dbVar:nssv18842007|dbVar:nssv15140065|dbVar:nssv15127264|dbVar:nssv15140622|dbVar:nssv15142143|dbVar:nssv15139736|dbVar:nssv15136257|dbVar:nssv15137789|dbVar:nssv15135435|dbVar:nssv15132352|dbVar:nssv15127572|dbVar:nssv16736643|dbVar:nssv15135787|dbVar:nssv15121048|dbVar:nssv15132855;po_P_gain_coord=1:47852-249228449|1:82155-249218992|1:849468-249224684|1:142535936-157648813|1:143500224-149763815|1:143544036-149754161|1:143753741-151399970|1:143932351-149801420|1:144927579-153223600|1:145425396-149091187|1:145425396-149699420|1:145425396-149768855|1:145451330-156102366|1:145764500-249233096|1:145818703-149378266|1:146500973-149433185|1:147400638-149813625|1:147411535-149699420;po_P_gain_percent=0.07|0.07|0.07|1.11|2.67|2.69|2.19|2.85|2.02|1.34|3.92|3.85|1.57|0.16|4.70|5.71|6.94|7.31;po_P_loss_source=dbVar:nssv15132982|dbVar:nssv15133379|dbVar:nssv15137633|dbVar:nssv15137132|dbVar:nssv15136850|dbVar:nssv15132445|dbVar:nssv15137470|dbVar:nssv15135169|dbVar:nssv15129680|dbVar:nssv15157514|dbVar:nssv15133691|dbVar:nssv15132524|dbVar:nssv15137778;po_P_loss_coord=1:143721527-149232481|1:145388356-149418924|1:145415157-149433207|1:145626238-149244468|1:145626238-149453964|1:145655993-149232481|1:145747243-149155026|1:145987157-149232481|1:146053395-249233096|1:146089269-149376652|1:146143190-149232481|1:146143190-149699420|1:146507650-149433207;po_P_loss_percent=3.04|4.15|4.17|4.63|4.37|4.68|3.32|5.16|0.16|5.09|5.42|4.71|5.72;B_gain_source=DDD:2784|DDD:2806|TS40:ISCA-37469|dbVar|dgv4e203|nsv514006,1000g|DDD:2784|DDD:2806|TS40:ISCA-37469|dbVar|dgv4e203|esv3587470|nsv514006;B_gain_coord=1:147929337-149801433|1:148050780-149739249|1:148867552-149768855|1:149034710-149405578|chr1:149035900-149459350|1:149036513-149244464,1:147929337-149801433|1:148050780-149739249|1:148867552-149768855|1:149034710-149405578|chr1:149035900-149459350|1:149036513-149244464|chr1:149144314-149215452|chr1:149151838-149203736|1:149151839-149203736|1:149151839-149203736;B_gain_AFmax=0.08;B_loss_source=DDD:2784|DDD:2806|HI40:ISCA-37469|dgv375n100|dgv4e203|esv2422083|esv3894145,1000g|DDD:2784|DDD:2806|DDD:2814|HI40:ISCA-37469|HI40:ISCA-46570|dbVar|dgv375n100|dgv4e203|esv2422083|esv3587469|esv3894145|gnomAD-SV_v2.1_DEL_1_7835|gnomAD-SV_v2.1_DEL_1_7844;B_loss_coord=1:147929337-149801433|1:148050780-149739249|1:148867552-149768855|1:149034710-149405578|1:149036513-149278459|1:149036525-149256691|1:149039121-149211496,1:147929337-149801433|1:148050780-149739249|1:148867552-149768855|1:149034710-149405578|chr1:149035900-149204000|1:149035900-149204000|1:149036513-149278459|1:149036525-149256691|1:149039121-149211496|chr1:149134000-149204000|1:149134000-149204000|1:149145234-149244654|chr1:149151838-149203736|1:149151839-149203736|1:149151839-149203736|1:149152065-149204067;B_loss_AFmax=0.3041;B_inv_source=IMH;B_inv_coord=1:4599855-170869838|1:17124869-234920285|1:17225077-149220997|1:17229845-149217063|1:69129973-188838391|1:76428346-179322403|1:108097960-232960701;B_inv_AFmax=0.4999;po_B_gain_someG_source=1:148050780-149739249_DDD:2784|1:149034710-149405578_DDD:2806|1:149036513-149244464_nsv514006|chr1:149068307-149095518_dbVar|chr1:149071634-149169501_dbVar|1:149071635-149169501_esv3587467|chr1:149093107-149137677_dbVar|chr1:149117907-149137677_dbVar|chr1:149138701-149141704_dbVar|chr1:149144314-149151529_dbVar|chr1:149151838-149203736_dbVar|1:149151839-149203736_esv3587470|1:149207861-149218152_1000g|;po_B_gain_someG_coord=1:147929337-149801433_dgv4e203|1:148867552-149768855_TS40:ISCA-37469|chr1:149035900-149459350_dbVar|chr1:149037005-149068307_dbVar|chr1:149068307-149114963_dbVar|1:149071635-149169501_1000g|chr1:149081912-149105240_dbVar|chr1:149095518-149114963_dbVar|chr1:149117907-149138701_dbVar|chr1:149138701-149144314_dbVar|chr1:149144314-149215452_dbVar|1:149151839-149203736_1000g|chr1:149207860-149218152_dbVar|1:149207861-149218152_esv3587472;po_B_loss_someG_source=1:148050780-149739249_DDD:2784|1:149034710-149405578_DDD:2806|1:149035900-149053900_gnomAD-SV_v2.1_DEL_1_7834|1:149035900-149204000_gnomAD-SV_v2.1_DEL_1_7835|1:149036525-149256691_esv2422083|chr1:149046220-149046341_dbVar|1:149064634-149080509_gnomAD-SV_v2.1_DEL_1_7837|chr1:149071634-149169501_dbVar|1:149071635-149169501_esv3587466|chr1:149090849-149092378_dbVar|1:149090850-149092378_esv3587468|chr1:149132411-149132504_dbVar|chr1:149134000-149204000_dbVar|chr1:149139251-149139476_dbVar|chr1:149151838-149203736_dbVar|1:149151839-149203736_esv3587469|chr1:149156359-149156429_dbVar|chr1:149159117-149159254_dbVar|chr1:149173738-149173810_dbVar|1:149202746-149436842_DDD:2817...;po_B_loss_someG_coord=1:147929337-149801433_dgv4e203|1:148867552-149768855_HI40:ISCA-37469|chr1:149035900-149053900_dbVar|chr1:149035900-149204000_dbVar|1:149036513-149278459_dgv375n100|1:149039121-149211496_esv3894145|chr1:149064634-149080509_dbVar|chr1:149065069-149065232_dbVar|1:149071635-149169501_1000g|chr1:149077419-149077503_dbVar|1:149090850-149092378_1000g|chr1:149132411-149132463_dbVar|chr1:149133674-149133762_dbVar|1:149134000-149204000_gnomAD-SV_v2.1_DEL_1_7844|1:149145234-149244654_DDD:2814|1:149151839-149203736_1000g|1:149152065-149204067_HI40:ISCA-46570|chr1:149158275-149158337_dbVar|chr1:149162118-149162210_dbVar|chr1:149191596-149191654_dbVar...;GC_content_left=0.455;GC_content_right=0.44;Repeat_coord_right=1:149209192-149209220;Repeat_type_right=(GA)n;SegDup_left=1:149035966-149106186;SegDup_right=1:149191324-149214601|1:149200001-149214601;ENCODE_blacklist_left=1:147832001-149058800;ENCODE_blacklist_characteristics_left=High_Signal_Region;NCBI_gene_ID=.,101954269;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=1,full=1;END=149209289;SVLEN=-167355 GT 1/. 1 196756232 . A . PASS AnnotSV_ID=1_196756232_196799302_DEL_1;SV_start=196756232;Biologist_ranking=Benign;Annotation_mode=full,split,split;CytoBand=q31.3;Gene_name=CFHR3|CFHR1,CFHR3,CFHR1;Closest_left=CFH;Closest_right=CFHR4;Gene_count=2;Tx=.,NM_021023,NM_002113;Tx_version=.,6,3;Tx_start=.,196743969,196788860;Tx_end=.,196764537,196801319;Overlapped_tx_length=.,8306,10442;Overlapped_CDS_length=.,563,607;Overlapped_CDS_percent=.,56,61;Frameshift=.,yes,yes;Exon_count=.,6,6;Location=.,intron3-txEnd,txStart-intron4;Location2=.,CDS-3'UTR,5'UTR-CDS;Dist_nearest_SS=.,1114,327;Nearest_SS_type=.,3',3';Intersect_start=.,196756231,196788860;Intersect_end=.,196764537,196799302;RE_gene=ASPM_(morbid/RE=EA_enhancer)|CFH_(morbid/RE=GH_promoter_enhancer);P_loss_source=dbVar:nssv15121100;P_loss_coord=1:196757279-196796716;po_P_gain_source=dbVar:nssv15156967|dbVar:nssv15156970|dbVar:nssv15149867|nssv15151118|dbVar:nssv15127572|dbVar:nssv18330594|dbVar:nssv15777262|dbVar:nssv15169967|dbVar:nssv15146388|dbVar:nssv15151024;po_P_gain_coord=1:47852-249228449|1:82155-249218992|1:849468-249224684|1:145764500-249233096|1:181453461-213107248|1:182388774-249111240|1:185644664-221698833|1:187113114-224487119|1:195483440-249213000;po_P_gain_percent=0.02|0.02|0.02|0.04|0.14|0.06|0.12|0.12|0.08;po_P_loss_source=dbVar:nssv15129680|dbVar:nssv16207750|dbVar:nssv15146573|dbVar:nssv15151287|dbVar:nssv17970297|dbVar:nssv17970308|dbVar:nssv15146667|dbVar:nssv18329566|dbVar:nssv18330283|dbVar:nssv15154062|dbVar:nssv15134156|dbVar:nssv18792867|dbVar:nssv15146075|dbVar:nssv15119768;po_P_loss_coord=1:146053395-249233096|1:177551194-199599056|1:179002041-199694025|1:179011315-199022759|1:179073387-200192265|1:179413480-201764737|1:189003615-199584994|1:189633886-199854163|1:193011754-199882947|1:195089819-197443021|1:195483440-197865624|1:196676029-196842326|1:196712877-196797546|1:196722207-196808505;po_P_loss_percent=0.04|0.20|0.21|0.22|0.20|0.19|0.41|0.42|0.63|1.83|1.81|25.90|48.80|49.91;B_gain_source=DDD:3693|dbVar;B_gain_coord=chr1:196711121-196824857|chr1:196711121-196919131|chr1:196711478-197053461|1:196724161-196912840|chr1:196727600-196807000,chr1:196711121-196824857|chr1:196711121-196919131|chr1:196711478-197053461|1:196724161-196912840|chr1:196727600-196807000|chr1:196735895-196764940,chr1:196711121-196824857|chr1:196711121-196919131|chr1:196711478-197053461|1:196724161-196912840|chr1:196727600-196807000;B_gain_AFmax=0.1822;B_loss_source=1000g|DDD:3692|DDD:3693|DDD:3695|dbVar|dgv11e55|dgv6e203|dgv87e199|esv2421560|esv3588469|nsv514031|nsv517662,1000g|DDD:3692|DDD:3693|DDD:3695|DDD:3698|dbVar|dgv11e55|dgv6e203|dgv87e199|esv2421560|esv3588469|esv3588471|gnomAD-SV_v2.1_DEL_1_10680|nsv514031|nsv517662,1000g|DDD:3692|DDD:3693|DDD:3695|DDD:3706|DDD:3707|DDD:3712|dbVar|dgv11e55|dgv6e203|dgv87e199|esv2421560|esv3588469|esv3588478|nsv514031|nsv517662;B_loss_coord=1:196711068-196937536|1:196719268-196810043|1:196722346-196822692|1:196723048-196815791|1:196724161-196912840|1:196727851-196939719|chr1:196728877-196808865|1:196728878-196808865|1:196728878-196808865|1:196731149-196901753|1:196733402-196813850|1:196738898-196801697,1:196711068-196937536|1:196719268-196810043|1:196722346-196822692|1:196723048-196815791|1:196724161-196912840|1:196727851-196939719|chr1:196728877-196808865|1:196728878-196808865|1:196728878-196808865|chr1:196729000-196789200|1:196729000-196789200|1:196731149-196901753|1:196733402-196813850|chr1:196735895-196764940|1:196735896-196764940|1:196735896-196764940|1:196738624-196771280|1:196738898-196801697,1:196711068-196937536|1:196719268-196810043|1:196722346-196822692|1:196723048-196815791|1:196724161-196912840|1:196727851-196939719|chr1:196728877-196808865|1:196728878-196808865|1:196728878-196808865|1:196731149-196901753|1:196733402-196813850|1:196738898-196801697|1:196773003-196909196|1:196777327-196902217|chr1:196782355-196903873|1:196782356-196903873|1:196782356-196903873|1:196785120-196821192;B_loss_AFmax=0.4486;B_inv_source=IMH;B_inv_coord=1:17124869-234920285|1:108097960-232960701;B_inv_AFmax=0.3095;po_B_gain_someG_source=chr1:196711121-196919131_dbVar|1:196724161-196912840_DDD:3693|chr1:196735895-196764940_dbVar|chr1:196773811-196773879_dbVar|;po_B_gain_someG_coord=chr1:196711121-196824857_dbVar|chr1:196711478-197053461_dbVar|chr1:196727600-196807000_dbVar|1:196748312-196757828_DDD:3701|1:196792551-196801251_DDD:3714;po_B_loss_someG_source=1:196719268-196810043_DDD:3692|1:196723048-196815791_esv2421560|1:196727851-196939719_dgv6e203|1:196728878-196808865_1000g|chr1:196729000-196789200_dbVar|1:196731149-196901753_dgv11e55|chr1:196735895-196764940_dbVar|1:196735896-196764940_esv3588471|1:196738898-196801697_nsv514031|chr1:196761000-196783900_dbVar|1:196772366-196774588_1000g|1:196772602-196794300_DDD:3705|1:196777327-196902217_DDD:3707|1:196782000-196788000_gnomAD-SV_v2.1_DEL_1_10685|1:196782356-196903873_1000g|1:196785120-196821192_DDD:3712|1:196790200-196805500_gnomAD-SV_v2.1_DEL_1_10686|;po_B_loss_someG_coord=1:196711068-196937536_nsv517662|1:196722346-196822692_dgv87e199|1:196724161-196912840_DDD:3693|chr1:196728877-196808865_dbVar|1:196728878-196808865_esv3588469|1:196729000-196789200_gnomAD-SV_v2.1_DEL_1_10680|1:196733402-196813850_DDD:3695|1:196735896-196764940_1000g|1:196738624-196771280_DDD:3698|1:196748312-196757828_DDD:3701|chr1:196772365-196774588_dbVar|1:196772366-196774588_esv3588475|1:196773003-196909196_DDD:3706|chr1:196782000-196788000_dbVar|chr1:196782355-196903873_dbVar|1:196782356-196903873_esv3588478|chr1:196790200-196805500_dbVar|1:196798566-196802072_DDD:3720;Cosmic_ID=1057190|1065487|2085508|1061944,.,1061944;Cosmic_mut_typ=gain,.,gain;GC_content_left=0.35;GC_content_right=0.285;Repeat_coord_right=1:196797933-196799242;Repeat_type_right=L1MDa;SegDup_left=1:196756102-196796319;SegDup_right=1:196796320-196825045;DDD_HI_percent=98.26,98.26,92.58;ExAC_synZ=1.07662990621103,0.6684477327677,1.07662990621103;ExAC_misZ=1.30887789301822,0.697024247535932,1.30887789301822;GenCC_disease=.,hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1,age_related_macular_degeneration_1|dense_deposit_disease|hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1;GenCC_moi=.,.,AD|AR;GenCC_classification=.,Limited,Limited|Supportive;GenCC_pmid=.,22626820,19745068|19861685|23728178[PMID]|23830046;NCBI_gene_ID=.,10878,3078;OMIM_ID=605336|134371,605336,134371;OMIM_phenotype=.,(Hemolytic_uremic_syndrome,_atypical,_susceptibility_to),_235400_(3)_AD,AR|(Macular_degeneration,_age-related,_reduced_risk_of),_603075_(3)_AD,(Hemolytic_uremic_syndrome,_atypical,_susceptibility_to),_235400_(3)_AD,AR|(Macular_degeneration,_age-related,_reduced_risk_of),_603075_(3)_AD;OMIM_inheritance=.,AD|AD,AR,AD|AD,AR;OMIM_morbid_candidate=yes;LOEUF_bin=8;GnomAD_pLI=2.6297e-08,1.72e-11,2.6297e-08;ExAC_pLI=0.00090932,1.219e-05,0.00090932;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(2_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5;END=196799302;SVLEN=-43070 GT 1/. 1 248738899 . G . PASS AnnotSV_ID=1_248738899_248785562_DEL_1;SV_start=248738899;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=q44;Gene_name=OR2T10;Closest_left=OR2T34;Closest_right=OR2T11;Gene_count=1;Tx=.,NM_001004693;Tx_version=.,2;Tx_start=.,248753787;Tx_end=.,248761001;Overlapped_tx_length=.,7214;Overlapped_CDS_length=.,939;Overlapped_CDS_percent=.,97;Frameshift=.,no;Exon_count=.,2;Location=.,txStart-txEnd;Location2=.,5'UTR-3'UTR;Intersect_start=.,248753787;Intersect_end=.,248761001;po_P_gain_source=dbVar:nssv15156967|dbVar:nssv15156970|dbVar:nssv15149867|nssv15151118|dbVar:nssv15127572|dbVar:nssv15777262|dbVar:nssv15151024|dbVar:nssv18326443|dbVar:nssv16207620|dbVar:nssv15146793|dbVar:nssv15147003|dbVar:nssv15146656|dbVar:nssv16215284|dbVar:nssv15145669|dbVar:nssv15154064|dbVar:nssv15146178|dbVar:nssv18329268|dbVar:nssv15147314|dbVar:nssv15147005|dbVar:nssv15146390|dbVar:nssv15150211|dbVar:nssv15147383|dbVar:nssv15146391|dbVar:nssv15126459|dbVar:nssv15146018|dbVar:nssv15156411|dbVar:nssv15147341|dbVar:nssv15149590|dbVar:nssv15170725|dbVar:nssv15149119|dbVar:nssv15774642|dbVar:nssv15776729|dbVar:nssv15145719|dbVar:nssv15142850|dbVar:nssv15140102|dbVar:nssv15119915|dbVar:nssv15135164|dbVar:nssv18330767|dbVar:nssv15142418|dbVar:nssv15133070|dbVar:nssv15128248|dbVar:nssv18326380;po_P_gain_coord=1:47852-249228449|1:82155-249218992|1:849468-249224684|1:145764500-249233096|1:182388774-249111240|1:195483440-249213000|1:197867915-249224684|1:204045949-249218992|1:207519988-249224684|1:209819553-249225312|1:210136971-249212668|1:210152795-249218992|1:214197156-249212668|1:218252552-249224684|1:223521036-249212668|1:223972940-249224684|1:224002850-249212668|1:224016203-249185508|1:224075483-249185508|1:224105295-249224684|1:224210565-249212668|1:224284191-249212668|1:225049988-249233096|1:225626183-249060210|1:228529974-249181598|1:229158657-249212668|1:231670871-249213000|1:232232336-249218992|1:234050865-249213059|1:235582581-249224684|1:238669294-249224684|1:240407745-249185508|1:242324399-249224684|1:242656461-249213000|1:242992034-249185508|1:243095879-249158835|1:243258051-249224684|1:244197792-249224684|1:245476118-249212668|1:245665464-249233096|1:246850402-249205263;po_P_gain_percent=0.02|0.02|0.02|0.05|0.07|0.09|0.09|0.10|0.11|0.12|0.12|0.12|0.13|0.15|0.18|0.18|0.19|0.19|0.19|0.19|0.19|0.19|0.19|0.20|0.23|0.23|0.27|0.27|0.31|0.34|0.44|0.53|0.68|0.71|0.75|0.77|0.78|0.93|1.25|1.31|1.98;po_P_loss_source=dbVar:nssv15129680|dbVar:nssv18326340|dbVar:nssv15149874|dbVar:nssv15148823|dbVar:nssv15148210|dbVar:nssv15148138|dbVar:nssv15148243|dbVar:nssv15146635|dbVar:nssv15146644|dbVar:nssv15146499|dbVar:nssv15146500|dbVar:nssv18330244|dbVar:nssv15145856|dbVar:nssv15153348|dbVar:nssv15146579|dbVar:nssv15131783|dbVar:nssv18329412|dbVar:nssv15138053|dbVar:nssv15124424|dbVar:nssv18841999|dbVar:nssv15126240|dbVar:nssv15133004|dbVar:nssv15771899|dbVar:nssv15133645|dbVar:nssv15153353|dbVar:nssv15605763|dbVar:nssv18792785|dbVar:nssv15772690|dbVar:nssv16255440;po_P_loss_coord=1:146053395-249233096|1:233012995-249206918|1:235797385-249224684|1:236719383-249212668|1:237806582-249212668|1:238196876-249218733|1:238356181-249224684|1:238514422-249212668|1:238917050-249212666|1:239721731-249212668|1:239793169-249218792|1:239910961-249224684|1:240628423-249212668|1:241051171-249224684|1:241210723-249218792|1:241920552-249185508|1:242045198-249212668|1:242208582-249224684|1:243103402-249119318|1:243384761-249213309|1:243477621-249233096|1:243949932-249212668|1:244379482-249224684|1:244745426-249212668|1:244797640-249224684|1:245341154-249212429|1:245704070-249212562|1:246565045-249224684|1:246853200-249181899;po_P_loss_percent=0.05|0.29|0.35|0.37|0.41|0.42|0.43|0.44|0.45|0.49|0.50|0.50|0.54|0.57|0.58|0.64|0.65|0.67|0.78|0.80|0.81|0.89|0.96|1.04|1.05|1.21|1.33|1.75|2.00;B_gain_source=dbVar;B_gain_coord=chr1:248070033-248787097|chr1:248502721-248875715|chr1:248720994-248795675,chr1:248070033-248787097|chr1:248502721-248875715|chr1:248720994-248795675|chr1:248745821-248795675|chr1:248745821-248849502;B_gain_AFmax=0.01;B_loss_source=DDD:4636|DDD:4639|HI40:ISCA-46339|dbVar|dgv166e212|dgv630n100|esv2760083|esv2763780|gnomAD-SV_v2.1_DEL_1_13889,DDD:4636|DDD:4639|DDD:4645|HI40:ISCA-46339|dbVar|dgv166e212|dgv167e212|dgv630n100|dgv633n100|esv2421359|esv2660478|esv2760083|esv2763780|gnomAD-SV_v2.1_DEL_1_13889;B_loss_coord=1:248605753-248818483|1:248683401-248814080|1:248688222-248828223|1:248693963-248856466|1:248727631-248859425|1:248731000-248798200|chr1:248731000-248798200|1:248731000-248798200|1:248737436-248818471,chr1:248469040-248768529|1:248605753-248818483|1:248683401-248814080|1:248688222-248828223|1:248693963-248856466|1:248727631-248859425|1:248731000-248798200|chr1:248731000-248798200|1:248731000-248798200|1:248737436-248818471|1:248739346-248798392|1:248739502-248798200|1:248739517-248797213|1:248749183-248797201|1:248753185-248795277;B_loss_AFmax=0.2767;B_inv_source=IMH;B_inv_coord=1:248596196-248822398|1:248601499-248817009|1:248601686-248817033|1:248602851-248816084|1:248606626-248811646|1:248609654-248808661;B_inv_AFmax=0.4394;po_B_gain_someG_source=chr1:248502721-248875715_dbVar|chr1:248720994-248795675_dbVar|chr1:248745821-248849502_dbVar|1:248756742-248797597_1000g;po_B_gain_someG_coord=chr1:248070033-248787097_dbVar|chr1:248560944-248756386_dbVar|chr1:248745821-248795675_dbVar|chr1:248756741-248797597_dbVar;po_B_loss_someG_source=1:248605753-248818483_esv2760083|1:248688222-248828223_dgv166e212|1:248712455-248757403_HI40:ISCA-46337|1:248712455-248757403_gnomAD-SV_v2.1_DEL_1_13885|1:248729000-248743000_HI40:ISCA-46338|1:248729000-248743000_gnomAD-SV_v2.1_DEL_1_13888|chr1:248731000-248798200_dbVar|1:248737436-248818471_dgv630n100|chr1:248738000-248744000_dbVar|1:248739346-248798392_esv2660478|1:248739502-248798200_DDD:4645|chr1:248741000-248749000_dbVar|chr1:248742276-248742334_dbVar|1:248753185-248795277_dgv167e212|chr1:248755655-248758478_dbVar|1:248755656-248758478_HI40:ISCA-46577|1:248755670-248758483_DDD:4648|chr1:248756741-248797597_dbVar|1:248756742-248797597_esv3589559|;po_B_loss_someG_coord=chr1:248469040-248768529_dbVar|1:248683401-248814080_esv2763780|1:248693963-248856466_DDD:4636|chr1:248712455-248757403_dbVar|1:248727631-248859425_DDD:4639|chr1:248729000-248743000_dbVar|1:248731000-248798200_HI40:ISCA-46339|1:248731000-248798200_gnomAD-SV_v2.1_DEL_1_13889|1:248738000-248744000_HI40:ISCA-46340|1:248738000-248744000_gnomAD-SV_v2.1_DEL_1_13890|chr1:248739419-248739472_dbVar|1:248739517-248797213_esv2421359|1:248741000-248749000_gnomAD-SV_v2.1_DEL_1_13892|1:248749183-248797201_dgv633n100|1:248753986-248795457_nsv514048|1:248755656-248758478_1000g|1:248755656-248758478_esv3589558|chr1:248755674-248758483_dbVar|1:248756742-248797597_1000g|1:248756881-248797809_HI40:ISCA-46576;Cosmic_ID=864662;Cosmic_mut_typ=loss;GC_content_left=0.305;GC_content_right=0.33;SegDup_left=1:248692097-248751707;DDD_HI_percent=92.08;ExAC_synZ=0.553342166544692;ExAC_misZ=-0.565086620797697;NCBI_gene_ID=.,127069;LOEUF_bin=9;GnomAD_pLI=0.00065559;ExAC_pLI=0.00015575;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=1,full=1;END=248785562;SVLEN=-46663 GT 1/. -2 242865921 . T . PASS AnnotSV_ID=2_242865921_243028452_DEL_1;SV_start=242865921;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split;CytoBand=q37.3;Gene_name=LINC01237|LINC01238|LOC285097|LINC01880,LINC01237,LINC01238,LOC285097,LINC01880;Closest_left=FAM240C;Closest_right=LINC01881;Gene_count=4;Tx=.,NR_110220,NR_110592,NR_149023,NR_146651;Tx_version=.,1,1,1,1;Tx_start=.,242823513,242912833,242943359,242989834;Tx_end=.,243020873,242919427,242948164,243026289;Overlapped_tx_length=.,154953,6594,4805,36455;Overlapped_CDS_length=.,0,0,0,0;Overlapped_CDS_percent=.,0,0,0,0;Frameshift=.,no,no,no,no;Exon_count=.,4,6,1,4;Location=.,intron2-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,UTR,UTR,UTR;Dist_nearest_SS=.,41134,.,.,.;Nearest_SS_type=.,5',.,.,.;Intersect_start=.,242865920,242912833,242943359,242989834;Intersect_end=.,243020873,242919427,242948164,243026289;RE_gene=AGXT_(morbid/RE=ABC_enhancer)|D2HGDH_(morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer)|DTYMK_(morbid/RE=ABC_enhancer+EA_enhancer)|FARP2_(morbid/RE=ABC_enhancer+GH_promoter_enhancer);po_P_gain_source=dbVar:nssv17976961|dbVar:nssv15174359|dbVar:nssv15174602|dbVar:nssv16254741|dbVar:nssv15147151|dbVar:nssv15147318|dbVar:nssv15146760|dbVar:nssv15121191|dbVar:nssv15134347|dbVar:nssv15120707|dbVar:nssv8639299;po_P_gain_coord=2:2-243199373|2:14239-243048760|2:15673-243101834|2:178397960-243007457|2:189682922-243007359|2:211444401-243059659|2:218966483-243059659|2:228667865-243028452|2:236177413-243059659|2:236472309-243028452|2:239873382-243006013;po_P_gain_percent=0.07|0.07|0.07|0.22|0.27|0.51|0.67|1.13|2.36|2.48|4.47;po_P_loss_phen=2q37.3_terminal_region_(includes_HDAC4);po_P_loss_source=dbVar:nssv15124851|dbVar:nssv15132233|nssv15140017|dbVar:nssv16296940|dbVar:nssv15139807|dbVar:nssv15126959|dbVar:nssv15121136|dbVar:nssv15120661|dbVar:nssv15121139|dbVar:nssv15132363|dbVar:nssv15121140|dbVar:nssv15134903|dbVar:nssv15122404|dbVar:nssv15133611|dbVar:nssv15120667|dbVar:nssv16865882|dbVar:nssv15137653|dbVar:nssv15132686|dbVar:nssv17976287|dbVar:nssv15136836|dbVar:nssv15133934|dbVar:nssv15133750|dbVar:nssv15163370|dbVar:nssv15134792|dbVar:nssv15133170|dbVar:nssv15132355|dbVar:nssv15605955|dbVar:nssv15137339|dbVar:nssv15605956|dbVar:nssv18326326|dbVar:nssv15136036|dbVar:nssv15755694|HI3:ISCA-37394|dbVar:nssv15121144|dbVar:nssv15135054|dbVar:nssv15133743|dbVar:nssv15135857|dbVar:nssv15120673|dbVar:nssv15133620|dbVar:nssv15122695|dbVar:nssv15163383|dbVar:nssv16207882|dbVar:nssv15141519|dbVar:nssv15121145;po_P_loss_coord=2:50886433-243102476|2:232634990-243059659|2:233110453-243028452|2:233784244-243040217|2:233891214-243068334|2:233995841-243028452|2:234362258-243041306|2:235081181-243028452|2:235254487-243059659|2:235576804-243059659|2:235744425-243007359|2:235937074-243008259|2:236177413-243007359|2:236649724-242974607|2:237201757-243048760|2:237322366-243059659|2:237463877-243059659|2:237619066-243048655|2:237684406-243059659|2:237875407-243007359|2:237943120-243007359|2:238037760-243101834|2:238140848-243007359|2:238434828-242938241|2:238552640-243059659|2:238795603-242918203|2:238811513-243059659|2:239071624-243048760|2:239229305-243199373|2:239742161-243059659|2:239894073-243048760|2:239954694-242930600|2:241006624-243028452|2:241006624-243059659|2:241110555-243007359|2:241127319-243059659|2:241384237-243028452|2:241446569-243007359|2:241610649-243034277|2:241847590-243101834|2:242011634-243199373|2:242045570-243040217|2:242188711-243028452;po_P_loss_percent=0.08|1.56|1.64|1.76|1.77|1.80|1.87|2.05|2.08|2.17|1.95|2.01|2.07|1.72|2.78|2.83|2.90|2.99|3.02|2.76|2.79|3.21|2.91|1.61|3.61|1.27|3.83|4.09|4.09|4.90|5.15|2.17|8.04|7.92|7.46|8.41|9.89|9.06|11.42|12.96|13.68|16.34|19.35;B_gain_source=dbVar,dbVar,dbVar,TS40:ISCA-37470|dbVar,1000g|TS40:ISCA-37470|dbVar|dgv768e214;B_gain_coord=chr2:242759086-243061064,chr2:242759086-243061064,chr2:242759086-243061064|chr2:242806389-242941416|chr2:242830051-242941344|chr2:242889607-242924507|chr2:242890091-242926595,chr2:242759086-243061064|2:242930601-243102476,chr2:242759086-243061064|2:242930601-243102476|chr2:242968350-243042956|chr2:242988769-243037176|2:242988770-243037176|2:242988770-243037176;B_gain_AFmax=0.01,0.01,0.01,0.01,0.0951;B_loss_source=DDD:9221|DDD:9222|IMH|dbVar|gnomAD-SV_v2.1_DEL_2_28790,DDD:9211|DDD:9221|DDD:9222|IMH|dbVar|gnomAD-SV_v2.1_DEL_2_28790,1000g|DDD:9211|DDD:9221|DDD:9222|DDD:9226|HI40:ISCA-46585|IMH|dbVar|dgv165e55|esv3594850|esv3594853|gnomAD-SV_v2.1_DEL_2_28790,1000g|DDD:9211|DDD:9221|DDD:9222|DDD:9231|DDD:9235|HI40:ISCA-37470|HI40:ISCA-46585|IMH|dbVar|dgv165e55|dgv167e55|dgv4203n100|dgv498n27|dgv90e203|esv3594850|esv3594855|gnomAD-SV_v2.1_DEL_2_28790,1000g|DDD:9221|DDD:9222|DDD:9235|HI40:ISCA-37470|IMH|dbVar|dgv4203n100|dgv498n27|dgv90e203|esv3594857|esv3594864|gnomAD-SV_v2.1_DEL_2_28790;B_loss_coord=2:242849685-243064401|chr2:242852582-243035504|chr2:242853252-243035778|2:242853252-243035778|2:242853253-243035778|2:242853253-243035778,2:242702555-243025545|2:242849685-243064401|chr2:242852582-243035504|chr2:242853252-243035778|2:242853252-243035778|2:242853253-243035778|2:242853253-243035778,2:242516106-243014630|2:242702555-243025545|2:242849685-243064401|chr2:242852582-242959025|chr2:242852582-243035504|chr2:242853243-243019021|2:242853244-243019021|2:242853244-243019021|chr2:242853252-243035778|2:242853252-243035778|2:242853253-243035778|2:242853253-243035778|2:242867313-242921118|2:242872863-243012181|chr2:242874439-243024795|chr2:242887570-243070660|chr2:242890091-242926595|2:242890092-242926595|2:242890092-242926595|chr2:242895812-242954423,2:242516106-243014630|2:242702555-243025545|2:242849685-243064401|chr2:242852582-242959025|chr2:242852582-243035504|chr2:242853243-243019021|2:242853244-243019021|2:242853244-243019021|chr2:242853252-243035778|2:242853252-243035778|2:242853253-243035778|2:242853253-243035778|2:242872863-243012181|chr2:242874439-243024795|chr2:242887570-243070660|chr2:242895812-242954423|2:242915455-243049013|2:242915467-243089456|2:242917307-243044147|chr2:242918208-242948232|2:242918249-243014630|chr2:242919210-242952227|2:242919211-242952227|2:242919211-242952227|2:242919289-242952148|2:242922232-243083979|2:242930601-243102476|chr2:242933537-242959025|chr2:242936128-242980024|chr2:242938726-242952779|chr2:242941934-242955439,2:242849685-243064401|chr2:242852582-243035504|chr2:242853252-243035778|2:242853252-243035778|2:242853253-243035778|2:242853253-243035778|chr2:242887570-243070660|2:242915455-243049013|2:242915467-243089456|2:242917307-243044147|2:242922232-243083979|2:242930601-243102476|chr2:242944058-243035710|2:242944059-243035710|2:242944059-243035710|chr2:242988769-243037176|2:242988770-243037176|2:242988770-243037176;B_loss_AFmax=0.0686,0.0686,0.0686,0.0804,0.0804;po_B_gain_someG_source=chr2:242759086-243061064_dbVar|chr2:242830051-242941344_dbVar|2:242869276-242871593_IMH|chr2:242881412-242881978_dbVar|chr2:242890091-242926595_dbVar|chr2:242928580-242929253_dbVar|chr2:242945609-242946126_dbVar|chr2:242948000-242953000_dbVar|chr2:242953041-242994310_dbVar|chr2:242955091-242989460_dbVar|chr2:242960191-242960274_dbVar|chr2:242964220-242964715_dbVar|chr2:242966528-242967434_dbVar|chr2:242968350-243042956_dbVar|chr2:242972195-242973743_dbVar|chr2:242975102-242975433_dbVar|chr2:242986081-242986179_dbVar|2:242988770-243037176_1000g|chr2:242990734-242996703_dbVar|chr2:242998333-242998483_dbVar...;po_B_gain_someG_coord=chr2:242743183-242871121_dbVar|chr2:242806389-242941416_dbVar|chr2:242867459-242867538_dbVar|chr2:242869973-242871147_dbVar|chr2:242889607-242924507_dbVar|chr2:242894433-242907894_dbVar|2:242930601-243102476_TS40:ISCA-37470|chr2:242945609-242946430_dbVar|chr2:242950077-242950601_dbVar|chr2:242953164-242954423_dbVar|chr2:242955205-242959025_dbVar|chr2:242960459-242968350_dbVar|chr2:242964221-242964720_dbVar|chr2:242968350-242974721_dbVar|chr2:242971430-242983239_dbVar|chr2:242974721-242986550_dbVar|chr2:242983442-243003523_dbVar|chr2:242988769-243037176_dbVar|2:242988770-243037176_dgv768e214|chr2:242990734-243008570_dbVar...;po_B_loss_someG_source=2:242702555-243025545_DDD:9211|chr2:242851168-242874365_dbVar|2:242851169-242874365_esv3594848|chr2:242852582-243035504_dbVar|2:242852907-242902712_1000g|chr2:242853243-243019021_dbVar|2:242853244-243019021_esv3594850|2:242853252-243035778_gnomAD-SV_v2.1_DEL_2_28790|2:242853253-243035778_IMH|chr2:242860574-242892107_dbVar|2:242860575-242892107_esv3594851|2:242872863-243012181_HI40:ISCA-46585|chr2:242878551-242885258_dbVar|2:242881805-242896360_1000g|2:242881806-242896359_DDD:9229|chr2:242888545-242889711_dbVar|2:242890092-242926595_1000g|chr2:242895812-242954423_dbVar|2:242898343-242898462_1000g|chr2:242912279-242912530_dbVar...;po_B_loss_someG_coord=2:242516106-243014630_dgv165e55|2:242849685-243064401_DDD:9221|2:242851169-242874365_1000g|chr2:242852582-242959025_dbVar|chr2:242852906-242902712_dbVar|2:242852907-242902712_esv3594849|2:242853244-243019021_1000g|chr2:242853252-243035778_dbVar|2:242853253-243035778_DDD:9222|chr2:242854838-242867434_dbVar|2:242860575-242892107_1000g|2:242867313-242921118_DDD:9226|chr2:242874439-243024795_dbVar|chr2:242881804-242896360_dbVar|2:242881805-242896360_esv3594852|chr2:242887570-243070660_dbVar|chr2:242890091-242926595_dbVar|2:242890092-242926595_esv3594853|chr2:242898332-242898462_dbVar|chr2:242898343-242898462_dbVar...;GC_content_left=0.4;GC_content_right=0.46;SegDup_right=2:243007680-243062019;NCBI_gene_ID=.,101927289,102723927,.,105373979;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(4_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1;END=243028452;SVLEN=-162531 GT 1/. +2 242865921 . T . PASS AnnotSV_ID=2_242865921_243028452_DEL_1;SV_start=242865921;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split;CytoBand=q37.3;Gene_name=LINC01237|LINC01238|LOC285097|LINC01880,LINC01237,LINC01238,LOC285097,LINC01880;Closest_left=FAM240C;Closest_right=LINC01881;Gene_count=4;Tx=.,NR_110220,NR_110592,NR_149023,NR_146651;Tx_version=.,1,1,1,1;Tx_start=.,242823513,242912833,242943359,242989834;Tx_end=.,243020873,242919427,242948164,243026289;Overlapped_tx_length=.,154953,6594,4805,36455;Overlapped_CDS_length=.,0,0,0,0;Overlapped_CDS_percent=.,0,0,0,0;Frameshift=.,no,no,no,no;Exon_count=.,4,6,1,4;Location=.,intron2-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,UTR,UTR,UTR;Dist_nearest_SS=.,41134,.,.,.;Nearest_SS_type=.,5',.,.,.;Intersect_start=.,242865920,242912833,242943359,242989834;Intersect_end=.,243020873,242919427,242948164,243026289;RE_gene=AGXT_(morbid/RE=ABC_enhancer)|D2HGDH_(morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer)|DTYMK_(morbid/RE=ABC_enhancer+EA_enhancer);po_P_gain_source=dbVar:nssv17976961|dbVar:nssv15174359|dbVar:nssv15174602|dbVar:nssv16254741|dbVar:nssv15147151|dbVar:nssv15147318|dbVar:nssv15146760|dbVar:nssv15121191|dbVar:nssv15134347|dbVar:nssv15120707|dbVar:nssv8639299;po_P_gain_coord=2:2-243199373|2:14239-243048760|2:15673-243101834|2:178397960-243007457|2:189682922-243007359|2:211444401-243059659|2:218966483-243059659|2:228667865-243028452|2:236177413-243059659|2:236472309-243028452|2:239873382-243006013;po_P_gain_percent=0.07|0.07|0.07|0.22|0.27|0.51|0.67|1.13|2.36|2.48|4.47;po_P_loss_phen=2q37.3_terminal_region_(includes_HDAC4);po_P_loss_source=dbVar:nssv15124851|dbVar:nssv15132233|nssv15140017|dbVar:nssv16296940|dbVar:nssv15139807|dbVar:nssv15126959|dbVar:nssv15121136|dbVar:nssv15120661|dbVar:nssv15121139|dbVar:nssv15132363|dbVar:nssv15121140|dbVar:nssv15134903|dbVar:nssv15122404|dbVar:nssv15133611|dbVar:nssv15120667|dbVar:nssv16865882|dbVar:nssv15137653|dbVar:nssv15132686|dbVar:nssv17976287|dbVar:nssv15136836|dbVar:nssv15133934|dbVar:nssv15133750|dbVar:nssv15163370|dbVar:nssv15134792|dbVar:nssv15133170|dbVar:nssv15132355|dbVar:nssv15605955|dbVar:nssv15137339|dbVar:nssv15605956|dbVar:nssv18326326|dbVar:nssv15136036|dbVar:nssv15755694|HI3:ISCA-37394|dbVar:nssv15121144|dbVar:nssv15135054|dbVar:nssv15133743|dbVar:nssv15135857|dbVar:nssv15120673|dbVar:nssv15133620|dbVar:nssv15122695|dbVar:nssv15163383|dbVar:nssv16207882|dbVar:nssv15141519|dbVar:nssv15121145;po_P_loss_coord=2:50886433-243102476|2:232634990-243059659|2:233110453-243028452|2:233784244-243040217|2:233891214-243068334|2:233995841-243028452|2:234362258-243041306|2:235081181-243028452|2:235254487-243059659|2:235576804-243059659|2:235744425-243007359|2:235937074-243008259|2:236177413-243007359|2:236649724-242974607|2:237201757-243048760|2:237322366-243059659|2:237463877-243059659|2:237619066-243048655|2:237684406-243059659|2:237875407-243007359|2:237943120-243007359|2:238037760-243101834|2:238140848-243007359|2:238434828-242938241|2:238552640-243059659|2:238795603-242918203|2:238811513-243059659|2:239071624-243048760|2:239229305-243199373|2:239742161-243059659|2:239894073-243048760|2:239954694-242930600|2:241006624-243028452|2:241006624-243059659|2:241110555-243007359|2:241127319-243059659|2:241384237-243028452|2:241446569-243007359|2:241610649-243034277|2:241847590-243101834|2:242011634-243199373|2:242045570-243040217|2:242188711-243028452;po_P_loss_percent=0.08|1.56|1.64|1.76|1.77|1.80|1.87|2.05|2.08|2.17|1.95|2.01|2.07|1.72|2.78|2.83|2.90|2.99|3.02|2.76|2.79|3.21|2.91|1.61|3.61|1.27|3.83|4.09|4.09|4.90|5.15|2.17|8.04|7.92|7.46|8.41|9.89|9.06|11.42|12.96|13.68|16.34|19.35;B_gain_source=dbVar,dbVar,dbVar,TS40:ISCA-37470|dbVar,1000g|TS40:ISCA-37470|dbVar|dgv768e214;B_gain_coord=chr2:242759086-243061064,chr2:242759086-243061064,chr2:242759086-243061064|chr2:242806389-242941416|chr2:242830051-242941344|chr2:242889607-242924507|chr2:242890091-242926595,chr2:242759086-243061064|2:242930601-243102476,chr2:242759086-243061064|2:242930601-243102476|chr2:242968350-243042956|chr2:242988769-243037176|2:242988770-243037176|2:242988770-243037176;B_gain_AFmax=0.01,0.01,0.01,0.01,0.0951;B_loss_source=DDD:9221|DDD:9222|IMH|dbVar|gnomAD-SV_v2.1_DEL_2_28790,DDD:9211|DDD:9221|DDD:9222|IMH|dbVar|gnomAD-SV_v2.1_DEL_2_28790,1000g|DDD:9211|DDD:9221|DDD:9222|DDD:9226|HI40:ISCA-46585|IMH|dbVar|dgv165e55|esv3594850|esv3594853|gnomAD-SV_v2.1_DEL_2_28790,1000g|DDD:9211|DDD:9221|DDD:9222|DDD:9231|DDD:9235|HI40:ISCA-37470|HI40:ISCA-46585|IMH|dbVar|dgv165e55|dgv167e55|dgv4203n100|dgv498n27|dgv90e203|esv3594850|esv3594855|gnomAD-SV_v2.1_DEL_2_28790,1000g|DDD:9221|DDD:9222|DDD:9235|HI40:ISCA-37470|IMH|dbVar|dgv4203n100|dgv498n27|dgv90e203|esv3594857|esv3594864|gnomAD-SV_v2.1_DEL_2_28790;B_loss_coord=2:242849685-243064401|chr2:242852582-243035504|chr2:242853252-243035778|2:242853252-243035778|2:242853253-243035778|2:242853253-243035778,2:242702555-243025545|2:242849685-243064401|chr2:242852582-243035504|chr2:242853252-243035778|2:242853252-243035778|2:242853253-243035778|2:242853253-243035778,2:242516106-243014630|2:242702555-243025545|2:242849685-243064401|chr2:242852582-242959025|chr2:242852582-243035504|chr2:242853243-243019021|2:242853244-243019021|2:242853244-243019021|chr2:242853252-243035778|2:242853252-243035778|2:242853253-243035778|2:242853253-243035778|2:242867313-242921118|2:242872863-243012181|chr2:242874439-243024795|chr2:242887570-243070660|chr2:242890091-242926595|2:242890092-242926595|2:242890092-242926595|chr2:242895812-242954423,2:242516106-243014630|2:242702555-243025545|2:242849685-243064401|chr2:242852582-242959025|chr2:242852582-243035504|chr2:242853243-243019021|2:242853244-243019021|2:242853244-243019021|chr2:242853252-243035778|2:242853252-243035778|2:242853253-243035778|2:242853253-243035778|2:242872863-243012181|chr2:242874439-243024795|chr2:242887570-243070660|chr2:242895812-242954423|2:242915455-243049013|2:242915467-243089456|2:242917307-243044147|chr2:242918208-242948232|2:242918249-243014630|chr2:242919210-242952227|2:242919211-242952227|2:242919211-242952227|2:242919289-242952148|2:242922232-243083979|2:242930601-243102476|chr2:242933537-242959025|chr2:242936128-242980024|chr2:242938726-242952779|chr2:242941934-242955439,2:242849685-243064401|chr2:242852582-243035504|chr2:242853252-243035778|2:242853252-243035778|2:242853253-243035778|2:242853253-243035778|chr2:242887570-243070660|2:242915455-243049013|2:242915467-243089456|2:242917307-243044147|2:242922232-243083979|2:242930601-243102476|chr2:242944058-243035710|2:242944059-243035710|2:242944059-243035710|chr2:242988769-243037176|2:242988770-243037176|2:242988770-243037176;B_loss_AFmax=0.0686,0.0686,0.0686,0.0804,0.0804;po_B_gain_someG_source=chr2:242759086-243061064_dbVar|chr2:242830051-242941344_dbVar|2:242869276-242871593_IMH|chr2:242881412-242881978_dbVar|chr2:242890091-242926595_dbVar|chr2:242928580-242929253_dbVar|chr2:242945609-242946126_dbVar|chr2:242948000-242953000_dbVar|chr2:242953041-242994310_dbVar|chr2:242955091-242989460_dbVar|chr2:242960191-242960274_dbVar|chr2:242964220-242964715_dbVar|chr2:242966528-242967434_dbVar|chr2:242968350-243042956_dbVar|chr2:242972195-242973743_dbVar|chr2:242975102-242975433_dbVar|chr2:242986081-242986179_dbVar|2:242988770-243037176_1000g|chr2:242990734-242996703_dbVar|chr2:242998333-242998483_dbVar...;po_B_gain_someG_coord=chr2:242743183-242871121_dbVar|chr2:242806389-242941416_dbVar|chr2:242867459-242867538_dbVar|chr2:242869973-242871147_dbVar|chr2:242889607-242924507_dbVar|chr2:242894433-242907894_dbVar|2:242930601-243102476_TS40:ISCA-37470|chr2:242945609-242946430_dbVar|chr2:242950077-242950601_dbVar|chr2:242953164-242954423_dbVar|chr2:242955205-242959025_dbVar|chr2:242960459-242968350_dbVar|chr2:242964221-242964720_dbVar|chr2:242968350-242974721_dbVar|chr2:242971430-242983239_dbVar|chr2:242974721-242986550_dbVar|chr2:242983442-243003523_dbVar|chr2:242988769-243037176_dbVar|2:242988770-243037176_dgv768e214|chr2:242990734-243008570_dbVar...;po_B_loss_someG_source=2:242702555-243025545_DDD:9211|chr2:242851168-242874365_dbVar|2:242851169-242874365_esv3594848|chr2:242852582-243035504_dbVar|2:242852907-242902712_1000g|chr2:242853243-243019021_dbVar|2:242853244-243019021_esv3594850|2:242853252-243035778_gnomAD-SV_v2.1_DEL_2_28790|2:242853253-243035778_IMH|chr2:242860574-242892107_dbVar|2:242860575-242892107_esv3594851|2:242872863-243012181_HI40:ISCA-46585|chr2:242878551-242885258_dbVar|2:242881805-242896360_1000g|2:242881806-242896359_DDD:9229|chr2:242888545-242889711_dbVar|2:242890092-242926595_1000g|chr2:242895812-242954423_dbVar|2:242898343-242898462_1000g|chr2:242912279-242912530_dbVar...;po_B_loss_someG_coord=2:242516106-243014630_dgv165e55|2:242849685-243064401_DDD:9221|2:242851169-242874365_1000g|chr2:242852582-242959025_dbVar|chr2:242852906-242902712_dbVar|2:242852907-242902712_esv3594849|2:242853244-243019021_1000g|chr2:242853252-243035778_dbVar|2:242853253-243035778_DDD:9222|chr2:242854838-242867434_dbVar|2:242860575-242892107_1000g|2:242867313-242921118_DDD:9226|chr2:242874439-243024795_dbVar|chr2:242881804-242896360_dbVar|2:242881805-242896360_esv3594852|chr2:242887570-243070660_dbVar|chr2:242890091-242926595_dbVar|2:242890092-242926595_esv3594853|chr2:242898332-242898462_dbVar|chr2:242898343-242898462_dbVar...;GC_content_left=0.4;GC_content_right=0.46;SegDup_right=2:243007680-243062019;NCBI_gene_ID=.,101927289,102723927,.,105373979;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(4_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1;END=243028452;SVLEN=-162531 GT 1/. 3 62939218 . A . PASS AnnotSV_ID=3_62939218_65268743_DEL_1;SV_start=62939218;Biologist_annotation=VOUS_in_2017,_reclassified_in_2020;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p14.2-p14.1,p14.2,p14.2,p14.2,p14.2,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1;Gene_name=LINC00698|SYNPR|SYNPR-AS1|SNTN|LOC100130345|C3orf49|THOC7|THOC7-AS1|ATXN7|SCAANT1|PSMD6-AS2|PSMD6|PRICKLE2-AS1|LINC00994|PRICKLE2|PRICKLE2-AS2|PRICKLE2-AS3|ADAMTS9|ADAMTS9-AS1|ADAMTS9-AS2,LINC00698,SYNPR,SYNPR-AS1,SNTN,LOC100130345,C3orf49,THOC7,THOC7-AS1,ATXN7,SCAANT1,PSMD6-AS2,PSMD6,PRICKLE2-AS1,LINC00994,PRICKLE2,PRICKLE2-AS2,PRICKLE2-AS3,ADAMTS9,ADAMTS9-AS1,ADAMTS9-AS2;Closest_left=CADPS;Closest_right=MAGI1;Gene_count=20;Tx=.,NR_027104,NM_001130003,NR_046677,NM_001348756,NR_171774,NM_001355236,NM_025075,NR_104326,NM_001177387,NR_148359,NR_038286,NM_001271779,NR_045697,NR_033978,NM_001370528,NR_046701,NR_046702,NM_182920,NR_110150,NR_038264;Tx_version=.,1,2,1,2,1,2,4,1,1,1,1,2,1,1,1,1,1,2,1,1;Tx_start=.,63088363,63263983,63409271,63638350,63727499,63804974,63819545,63846320,63884074,63897193,63989697,63996226,64053639,64064036,64077911,64089145,64173219,64501329,64547021,64670545;Tx_end=.,63110738,63602600,63535727,63650888,63799313,63834312,63849481,63847495,63989138,63897448,63997919,64009170,64088807,64073039,64253849,64092034,64187237,64673676,64575760,64997143;Overlapped_tx_length=.,22375,338617,126456,12538,71814,29338,29936,1175,105064,255,8222,12944,35168,9003,175938,2889,14018,172347,28739,326598;Overlapped_CDS_length=.,0,858,0,534,0,879,615,0,2838,0,0,1329,0,0,2535,0,0,5808,0,0;Overlapped_CDS_percent=.,0,100,0,100,0,100,100,0,100,0,0,100,0,0,100,0,0,100,0,0;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,7,6,5,5,9,7,8,2,13,1,3,9,3,4,8,4,4,40,3,6;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR;Intersect_start=.,63088363,63263983,63409271,63638350,63727499,63804974,63819545,63846320,63884074,63897193,63989697,63996226,64053639,64064036,64077911,64089145,64173219,64501329,64547021,64670545;Intersect_end=.,63110738,63602600,63535727,63650888,63799313,63834312,63849481,63847495,63989138,63897448,63997919,64009170,64088807,64073039,64253849,64092034,64187237,64673676,64575760,64997143;RE_gene=SLC25A26_(morbid/RE=ABC_enhancer);P_loss_phen=Spinocerebellar_ataxia_7,_164500_(3)_AD,.,.,.,.,.,.,.,.,Spinocerebellar_ataxia_7,_164500_(3)_AD,.,.,.,.,.,.,.,.,.,.,.;P_loss_source=morbid:ATXN7,.,.,.,.,.,.,.,.,morbid:ATXN7,.,.,.,.,.,.,.,.,.,.,.;P_loss_coord=3:63953470-63989138,.,.,.,.,.,.,.,.,3:63953470-63989138,.,.,.,.,.,.,.,.,.,.,.;po_P_gain_source=dbVar:nssv15162889|dbVar:nssv15164144|dbVar:nssv15149891|nssv15151839;po_P_gain_coord=3:60175-197948027|3:61496-197838262|3:61893-197851986;po_P_gain_percent=1.18|1.18|1.18;po_P_loss_source=dbVar:nssv15146214|dbVar:nssv15774780|dbVar:nssv15148889|dbVar:nssv15147494|dbVar:nssv17956097|dbVar:nssv16207905|dbVar:nssv15150232|dbVar:nssv15146193|dbVar:nssv15120308;po_P_loss_coord=3:54079046-66046136|3:57076137-65716956|3:57174453-90309110|3:57416266-64870197|3:59332509-70686155|3:60449668-65561638|3:60526227-63742930|3:61956522-68514983|3:64746925-78459248;po_P_loss_percent=19.47|26.96|7.03|25.91|20.52|45.57|24.99|35.52|3.81;P_snvindel_nb=2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,2,.,.,.,.,.;P_snvindel_phen=Progressive_myoclonic_epilepsy_type_5|See_cases,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Progressive_myoclonic_epilepsy_type_5|See_cases,.,.,.,.,.;B_gain_source=.,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;B_gain_coord=.,chr3:62988224-63196657|chr3:63039190-63205089,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;B_gain_AFmax=.,0.01,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;B_inv_source=IMH;B_inv_coord=3:1200531-154949082|3:38627146-149162150;B_inv_AFmax=0.3422;po_B_gain_someG_source=chr3:62941958-63077128_dbVar|chr3:62988224-63196657_dbVar|chr3:63104365-63108343_dbVar|chr3:63129917-63140073_dbVar|3:63224614-63225527_IMH|chr3:63448301-63448496_dbVar|chr3:63579031-63579207_dbVar|chr3:63725720-63725786_dbVar|chr3:63795271-63828291_dbVar|chr3:63964168-63964321_dbVar|chr3:64363467-64363549_dbVar|chr3:64433374-64557649_dbVar|3:64533160-64535613_IMH|3:64533160-64535613_gnomAD-SV_v2.1_DUP_3_8779|chr3:64595652-64609395_dbVar|chr3:64917502-65281259_dbVar|chr3:65038885-65066135_dbVar|chr3:65074238-65181464_dbVar|chr3:65134891-65134996_dbVar;po_B_gain_someG_coord=chr3:62940751-63017993_dbVar|chr3:62959750-62999530_dbVar|chr3:63039190-63205089_dbVar|chr3:63120822-63143847_dbVar|chr3:63203000-63216000_dbVar|chr3:63280423-63280757_dbVar|chr3:63532617-63568092_dbVar|chr3:63581882-63581978_dbVar|3:63725720-63725786_gnomAD-SV_v2.1_DUP_3_8770|chr3:63962000-63963377_dbVar|chr3:64361507-64373876_dbVar|chr3:64391248-64521443_dbVar|chr3:64533047-64535763_dbVar|chr3:64533160-64535613_dbVar|chr3:64592460-64635589_dbVar|chr3:64759754-64760269_dbVar|chr3:64993929-65024280_dbVar|chr3:65044571-65063822_dbVar|chr3:65117840-65117976_dbVar;po_B_loss_someG_source=chr3:62952324-62973934_dbVar|chr3:62959476-62994696_dbVar|chr3:62959774-62994551_dbVar|chr3:62986070-62987837_dbVar|chr3:63006837-63007330_dbVar|chr3:63072271-63072321_dbVar|chr3:63103673-63107733_dbVar|3:63104370-63107212_1000g|chr3:63128000-63139500_dbVar|3:63134848-63135305_1000g|chr3:63134856-63135309_dbVar|chr3:63134857-63135309_dbVar|3:63134857-63135309_gnomAD-SV_v2.1_DEL_3_33028|chr3:63164118-63164190_dbVar|chr3:63182335-63190512_dbVar|chr3:63184629-63185275_dbVar|chr3:63256602-63256696_dbVar|chr3:63321371-63322219_dbVar|chr3:63347273-63347343_dbVar|chr3:63382056-63382224_dbVar...;po_B_loss_someG_coord=chr3:62938181-62985344_dbVar|chr3:62959345-62994669_dbVar|chr3:62959750-62999530_dbVar|chr3:62986062-62987807_dbVar|chr3:62992485-62993266_dbVar|chr3:63059041-63059108_dbVar|chr3:63081900-63082834_dbVar|chr3:63104369-63107212_dbVar|chr3:63119026-63120115_dbVar|chr3:63134847-63135305_dbVar|3:63134848-63135305_esv3596388|3:63134857-63135309_DDD:10454|3:63134857-63135309_esv2677248|3:63134858-63135309_IMH|chr3:63166947-63171818_dbVar|chr3:63184317-63184367_dbVar|chr3:63244236-63244406_dbVar|chr3:63299578-63299744_dbVar|chr3:63343372-63344883_dbVar|chr3:63353029-63353568_dbVar...;Cosmic_ID=465399|861891|435915|276093|499230|986538|1068008|1068049|1068051|1068055|356121|356412|356417|356440|639875|785617|366447|787942|107667|1001471|1871505|568338|683747|1010057|937826|670729|666457|879190|960773|770202|799721|494776|1274408|1680861|2707998|839074|1254755|982217|1989019|2782754|41481|1945945|2326969|2323872|1156484|1438065|1890712|2250641|2341391|2512207|2709178|...,.,982217|1989019|2782754|1945945|2326969|2323872|1156484|1438065|1890712|2250641|2341391|2512207|2709178|1484968|2346921|2817418|2979580|934596|936035|956432|970192|971293|972264|982600|994662|957452|996530|972875|979916|986395|952848|1353672|1401634|1501941|1501972|1649298|1715877|1790646|2003582|2037291|2140637|2307330|2433140|2905849|3025958|2388906|2813936|1363891|1601924|1866248|2272884|...,548375|494779|1048428|726165|327622|1048429|1048432|494780|830151|726166|3073085|770204|1167330|2744480|89973|90090|2255770|770205,309180,.,.,770220,.,418781|708951|1038179|708952|708953|708954|708955|447003|447603|107668|59834,.,447005,.,309182|276099|448792,.,1788970|448792|518859|276100|518860|770227|770228|770229|1231659|483530|940486|1904984|1922947|2849960|483531|2321740|2731090|3074273|1243506|135466|135902|135909|276101|733817|770230|770231|2731929|276102|1751877|770232,.,.,787948|276109|1042031|549355|2823064|1504208|2044109|2240649|1135553|1511158|2044804|2075783|2593226|2599590|2694024|2845215|944263|944306|969017|970694|970756|970760|984390|1799872|1067782|1068009|1932599|1967350|2001537|2005149|2203224|2308508|2691373|2792679|2969713|1072114|1915647|1042032|726177|2144978|301933|592200|366448|571129|276110|947661|947689|1042033,.,787949;Cosmic_mut_typ=gain|loss,.,gain|loss,loss|gain,loss,.,.,loss,.,loss|gain,.,loss,.,gain|loss,.,gain|loss,.,.,loss|gain,.,loss;GC_content_left=0.355;GC_content_right=0.43;Repeat_coord_left=3:62939271-62939427;Repeat_type_left=MER5A1;Repeat_coord_right=3:65268746-65268796|3:65268797-65269299;Repeat_type_right=LTR16B|L1MB2;DDD_HI_percent=68.54,.,27.35,.,66.14,.,68.54,7.39,.,17.72,.,.,8.63,.,.,19.72,.,.,31.58,.,.;ExAC_delZ=0.730304227093642,.,.,.,0.0947592166796515,.,.,0.226822637024357,.,0.730304227093642,.,.,0.167507008532066,.,.,0.557303960601498,.,.,-1.39811826175974,.,.;ExAC_dupZ=1.22944963357105,.,.,.,-0.338299474644844,.,.,-2.4455441384945,.,0.636006512326363,.,.,0.979835184836382,.,.,1.22944963357105,.,.,-0.477054147176997,.,.;ExAC_cnvZ=1.15014257139245,.,.,.,-0.173049359454575,.,.,-1.79937886551949,.,0.862222958307612,.,.,0.835574002005388,.,.,1.15014257139245,.,.,-0.711187689176027,.,.;ExAC_synZ=0.85336181383742,.,-0.433167561551584,.,-0.0258588646723899,.,.,-0.696357556154856,.,0.85336181383742,.,.,-0.764855351937167,.,.,0.337534415605819,.,.,-0.797615479905467,.,.;ExAC_misZ=2.61388539526619,.,-0.551647400212283,.,-1.1196806141136,.,.,1.21996216564798,.,0.386394557252369,.,.,1.81088903222596,.,.,2.61388539526619,.,.,0.510431064472241,.,.;GenCC_disease=.,.,.,.,.,.,.,.,.,autosomal_dominant_cerebellar_ataxia_type_II|spinocerebellar_ataxia_type_7,.,.,.,.,.,complex_neurodevelopmental_disorder,.,.,ciliopathy|nephronophthisis_1,.,.;GenCC_moi=.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,AD,.,.,AR,.,.;GenCC_classification=.,.,.,.,.,.,.,.,.,Definitive|Moderate|Strong|Supportive,.,.,.,.,.,Limited,.,.,Limited|Supportive,.,.;GenCC_pmid=.,.,.,.,.,.,.,.,.,20301317[PMID]|7477379|8908515|9288099,.,.,.,.,.,.,.,.,30609407[PMID],.,.;NCBI_gene_ID=.,285401,132204,100874016,132203,.,132200,80145,100874039,6314,100861563,100507062,9861,100652759,100287879,166336,100874242,100874243,56999,101929335,100507098;OMIM_ID=607640,.,.,.,.,.,.,.,.,607640,.,.,.,.,.,.,.,.,.,.,.;OMIM_phenotype=.,.,.,.,.,.,.,.,.,Spinocerebellar_ataxia_7,_164500_(3)_AD,.,.,.,.,.,.,.,.,.,.,.;OMIM_inheritance=.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,.,.,.,.,.;OMIM_morbid=yes,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.;LOEUF_bin=0,.,4,.,9,.,7,4,.,1,.,.,0,.,.,1,.,.,1,.,.;GnomAD_pLI=0.99544,.,0.0041913,.,0.00010257,.,4.0628e-08,0.0060818,.,0.9595,.,.,0.99518,.,.,0.99544,.,.,1.0004e-06,.,.;ExAC_pLI=0.98784,.,0.17171,.,0.0027379,.,.,0.97832,.,0.92856,.,.,0.96209,.,.,0.98784,.,.,4.2266e-07,.,.;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(20_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=65268743;SVLEN=-2329525 GT 1/. 3 97483034 . A . PASS AnnotSV_ID=3_97483034_97487074_DEL_1;SV_start=97483034;Biologist_annotation=BBS3/ARL6_promotor_overlapped;Biologist_ranking=Pathogenic;Annotation_mode=full,split;CytoBand=q11.2;Gene_name=ARL6;Closest_left=EPHA6;Closest_right=CRYBG3;Gene_count=1;Tx=.,NM_032146;Tx_version=.,5;Tx_start=.,97483364;Tx_end=.,97520086;Overlapped_tx_length=.,3710;Overlapped_CDS_length=.,123;Overlapped_CDS_percent=.,21;Frameshift=.,no;Exon_count=.,9;Location=.,txStart-intron3;Location2=.,5'UTR-CDS;Dist_nearest_SS=.,0;Nearest_SS_type=.,5';Intersect_start=.,97483364;Intersect_end=.,97487074;P_loss_source=dbVar:nssv16214088;P_loss_coord=3:97486953-97487074;po_P_gain_source=dbVar:nssv15162889|dbVar:nssv15164144|dbVar:nssv15149891|nssv15151839|dbVar:nssv17976063|dbVar:nssv15148953|dbVar:nssv15148997;po_P_gain_coord=3:60175-197948027|3:61496-197838262|3:61893-197851986|3:72488758-99614758|3:93519465-145413168|3:93538468-103607593;po_P_gain_percent=0.00|0.00|0.00|0.01|0.01|0.04;po_P_loss_phen=Bardet-Biedl_syndrome_3,_600151_(3)_AR|Retinitis_pigmentosa_55,_613575_(3)_AR|Bardet-Biedl_syndrome_1,_modifier_of,_209900_(3)_Digenic_recessive,AR;po_P_loss_source=dbVar:nssv15147282|dbVar:nssv15146259|dbVar:nssv18842017|dbVar:nssv16254235|dbVar:nssv17171854|morbid:ARL6|dbVar:nssv18326626|dbVar:nssv17971170;po_P_loss_coord=3:93538468-116605903|3:93605516-122935530|3:93698392-124492857|3:95563097-102371126|3:97194197-97510809|3:97483602-97520073|3:97483823-97499002|3:97486953-97516893;po_P_loss_percent=0.02|0.01|0.01|0.06|1.28|9.52|21.42|0.41;P_snvindel_nb=4;P_snvindel_phen=Bardet-Biedl_syndrome_1|Bardet-Biedl_syndrome_3|Retinitis_pigmentosa|Retinitis_pigmentosa_55;B_loss_source=dbVar;B_loss_coord=chr3:97481287-97495551;B_loss_AFmax=0.01;B_inv_source=IMH;B_inv_coord=3:1200531-154949082|3:38627146-149162150|3:75497389-125619977;B_inv_AFmax=0.3422;po_B_loss_someG_coord=chr3:97481287-97495551_dbVar;GC_content_left=0.455;GC_content_right=0.335;HI=.,30;TS=.,0;DDD_HI_percent=10.16;ExAC_delZ=0.309918017790144;ExAC_dupZ=-0.416168538751037;ExAC_cnvZ=-0.151628993663861;ExAC_synZ=-0.139439307213778;ExAC_misZ=-0.254839803839483;GenCC_disease=.,Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_3|retinitis_pigmentosa|retinitis_pigmentosa_55;GenCC_moi=.,AD|AR;GenCC_classification=.,Definitive|Strong|Supportive;GenCC_pmid=.,10973238|10973251|11381270|11567139|12016587|12118255|12524598|12567324|12837689|14520415|15137946|15258860|15314642|16308660|16380913|16582908|16606853|17160889|18203199|18327255|19858128|19956407|20142850|20301537[PMID]|20301590[PMID]|20333246|20618352|20671153|20805367|21282186|21937992|22085962|22334370|22353939|250666|26355662|26489029|27124789|27486776|28130426|28502102|31736247|7711739|7987310|8298649|9714014;NCBI_gene_ID=.,84100;OMIM_ID=608845;OMIM_phenotype=.,Bardet-Biedl_syndrome_3,_600151_(3)_AR|Retinitis_pigmentosa_55,_613575_(3)_AR|(Bardet-Biedl_syndrome_1,_modifier_of),_209900_(3)_Digenic_recessive,AR;OMIM_inheritance=.,AR|Digenic_recessive,AR;OMIM_morbid=yes;OMIM_morbid_candidate=yes;LOEUF_bin=5;GnomAD_pLI=0.01013;ExAC_pLI=0.0042709;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=5,full=5;END=97487074;SVLEN=-4040 GT 1/. -3 195419169 . A . PASS AnnotSV_ID=3_195419169_195472855_DEL_1;SV_start=195419169;Biologist_ranking=Benign;Annotation_mode=full,split,split,split;CytoBand=q29;Gene_name=MIR570HG|MIR570|MUC20,MIR570HG,MIR570,MUC20;Closest_left=SDHAP2;Closest_right=MUC4;Gene_count=3;Tx=.,NR_122105,NR_030296,NM_001282506;Tx_version=.,1,1,2;Tx_start=.,195415368,195426271,195447848;Tx_end=.,195438746,195426368,195460422;Overlapped_tx_length=.,19578,97,12574;Overlapped_CDS_length=.,0,0,2130;Overlapped_CDS_percent=.,0,0,100;Frameshift=.,no,no,no;Exon_count=.,5,1,4;Location=.,intron2-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,UTR,5'UTR-3'UTR;Dist_nearest_SS=.,2859,.,.;Nearest_SS_type=.,5',.,.;Intersect_start=.,195419168,195426271,195447848;Intersect_end=.,195438746,195426368,195460422;RE_gene=ABCB7_(morbid/RE=mTL_miRNA)|ABHD5_(morbid/RE=mTL_miRNA)|ADAM22_(morbid/RE=mTL_miRNA)|ANXA11_(morbid/RE=mTL_miRNA)|ATP6V1B2_(morbid/RE=mTL_miRNA)|BICD2_(morbid/RE=mTL_miRNA)|BTD_(morbid/RE=mTL_miRNA)|CALM1_(morbid/RE=mTL_miRNA)|CALM3_(morbid/RE=mTL_miRNA)|CAVIN1_(morbid/RE=mTL_miRNA)|CBFB_(morbid/RE=mTL_miRNA)|CCDC115_(morbid/RE=mTL_miRNA)|CDKN1A_(morbid/RE=mTL_miRNA)|CDKN1B_(HI=3/morbid/RE=mTL_miRNA)|CHD1_(morbid/RE=mTL_miRNA)|CHSY1_(morbid/RE=mTL_miRNA)|CLCN3_(morbid/RE=mTL_miRNA)|CRTAP_(morbid/RE=mTL_miRNA)|CSNK2A1_(morbid/RE=mTL_miRNA)|DDHD1_(morbid/RE=mTL_miRNA)|ELOVL5_(morbid/RE=mTL_miRNA)|EPG5_(morbid/RE=mTL_miRNA)|ESCO2_(morbid/RE=mTL_miRNA)|EXOC2_(morbid/RE=mTL_miRNA)|FBXW7_(morbid/RE=mTL_miRNA)|FTH1_(morbid/RE=mTL_miRNA)|GDF6_(morbid/RE=mTL_miRNA)|GSR_(morbid/RE=mTL_miRNA)|HNRNPA2B1_(morbid/RE=mTL_miRNA)|IGF1R_(HI=3/morbid/RE=mTL_miRNA)|IL6R_(morbid/RE=mTL_miRNA)|IREB2_(morbid/RE=mTL_miRNA)|KCNB1_(morbid/RE=mTL_miRNA)|KLHL15_(morbid/RE=mTL_miRNA)|KREMEN1_(morbid/RE=mTL_miRNA)|LAMTOR3_(morbid/RE=mTL_miRNA)|LEMD2_(morbid/RE=mTL_miRNA)|MRPL3_(morbid/RE=mTL_miRNA)|MTA3_(morbid/RE=mTL_miRNA)|MYO1C_(morbid/RE=mTL_miRNA)|NDRG1_(morbid/RE=mTL_miRNA)|NDUFA12_(morbid/RE=mTL_miRNA)|P3H2_(morbid/RE=mTL_miRNA)|PAX2_(HI=3/morbid/RE=mTL_miRNA)|PCYT1A_(morbid/RE=GH_enhancer)|PEX2_(morbid/RE=mTL_miRNA)|PGK1_(morbid/RE=mTL_miRNA)|PHF6_(HI=3/morbid/RE=mTL_miRNA)|RAC1_(morbid/RE=mTL_miRNA)|RNF168_(morbid/RE=GH_enhancer)...;po_P_gain_source=dbVar:nssv15162889|dbVar:nssv15164144|dbVar:nssv15149891|nssv15151839|dbVar:nssv15148025|dbVar:nssv15146977|dbVar:nssv15145927|dbVar:nssv15147555|dbVar:nssv15147518|dbVar:nssv15145707|dbVar:nssv15149548|dbVar:nssv15148262|dbVar:nssv15146719|dbVar:nssv18326383|dbVar:nssv15164224|dbVar:nssv15147464|dbVar:nssv15148839|dbVar:nssv15142547|dbVar:nssv15153539|dbVar:nssv17976740|dbVar:nssv15153542|dbVar:nssv15153544|dbVar:nssv15164241|dbVar:nssv15152868|dbVar:nssv15755821|dbVar:nssv15146377|dbVar:nssv15146980|dbVar:nssv15153546|dbVar:nssv15145873|dbVar:nssv15149008|dbVar:nssv15145905|dbVar:nssv15146981|dbVar:nssv16254509|dbVar:nssv16736615|dbVar:nssv15148110;po_P_gain_coord=3:60175-197948027|3:61496-197838262|3:61893-197851986|3:103145727-197837049|3:147239680-197823436|3:151818302-197845254|3:155836231-197851986|3:156039668-197840323|3:157011168-197861598|3:158980632-197766890|3:165854998-197851986|3:167885357-197837049|3:171549422-198022430|3:173281267-197838262|3:175886314-197845254|3:176157700-197845254|3:177246494-197837049|3:182539235-197851986|3:183498521-197851986|3:184003968-197851986|3:186374366-197851986|3:186374672-197838262|3:187913568-197851986|3:188386567-197838262|3:188983161-197837049|3:190385453-197837049|3:191593620-197851986|3:192470727-197845254|3:193422395-197851986|3:194013987-197837069|3:194145226-197895629|3:195068029-197851986|3:195419169-197387258|3:195438670-197837049;po_P_gain_percent=0.03|0.03|0.03|0.06|0.11|0.12|0.13|0.13|0.13|0.14|0.17|0.18|0.20|0.22|0.24|0.25|0.26|0.35|0.37|0.39|0.47|0.47|0.54|0.57|0.61|0.72|0.86|1.00|1.21|1.40|1.43|1.93|2.73|1.43;po_P_loss_source=dbVar:nssv15146266|dbVar:nssv15128822|dbVar:nssv15165459|dbVar:nssv17955845|dbVar:nssv17955930|dbVar:nssv15145831;po_P_loss_coord=3:185203638-197837049|3:185599935-196462295|3:189101447-197838262|3:189608637-197532175|3:191866467-197842171|3:194059264-197420612;po_P_loss_percent=0.42|0.49|0.61|0.68|0.90|1.60;B_gain_source=DDD:12528|TS40:ISCA-46592|dbVar|esv2760775|esv2763776,1000g|DDD:12519|DDD:12528|DDD:12530|TS40:ISCA-46592|dbVar|dgv967e214|esv2760775|esv2763776,1000g|DDD:12519|DDD:12528|DDD:12530|TS40:ISCA-46592|dbVar|dgv967e214|esv2760775|esv2763776,DDD:12519|DDD:12528|DDD:12530|TS40:ISCA-46592|dbVar|esv2760775|esv2763776;B_gain_coord=3:195240825-195502119|chr3:195272344-195742942|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|chr3:195398446-195473245,3:195240825-195502119|chr3:195272344-195742942|3:195320057-195470538|chr3:195340839-195456934|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|chr3:195398446-195473245|3:195417631-195471708|chr3:195417835-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776,3:195240825-195502119|chr3:195272344-195742942|3:195320057-195470538|chr3:195340839-195456934|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|chr3:195398446-195473245|3:195417631-195471708|chr3:195417835-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776,3:195240825-195502119|chr3:195272344-195742942|3:195320057-195470538|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|chr3:195398446-195473245|3:195417631-195471708;B_gain_AFmax=0.03,0.4682,0.4682,0.0556;B_loss_source=DDD:12528|esv2760775|esv2763776,DDD:12519|DDD:12528|DDD:12530|HI40:ISCA-46589|dgv5017n100|esv2760775|esv2763776,DDD:12519|DDD:12528|DDD:12530|HI40:ISCA-46589|dgv5017n100|esv2760775|esv2763776,DDD:12519|DDD:12528|DDD:12530|HI40:ISCA-46589|esv2760775|esv2763776;B_loss_coord=3:195240825-195502119|3:195383143-195502119|3:195385823-195474165,3:195240825-195502119|3:195320057-195470538|3:195380279-195469564|3:195383131-195446910|3:195383143-195502119|3:195385823-195474165|3:195417631-195471708,3:195240825-195502119|3:195320057-195470538|3:195380279-195469564|3:195383131-195446910|3:195383143-195502119|3:195385823-195474165|3:195417631-195471708,3:195240825-195502119|3:195320057-195470538|3:195380279-195469564|3:195383143-195502119|3:195385823-195474165|3:195417631-195471708;B_loss_AFmax=0.03,0.0746,0.0746,0.0746;B_inv_source=IMH;B_inv_coord=3:195371562-197367616|3:195376259-197363816|3:195409822-195693354|3:195413625-195689159|3:195417390-195684632|3:195418302-195683569;B_inv_AFmax=0.1142;po_B_gain_someG_source=chr3:195272344-195742942_dbVar|chr3:195340839-195456934_dbVar|3:195383143-195502119_esv2760775|chr3:195398446-195473245_dbVar|chr3:195417835-195445776_dbVar|3:195417836-195445776_1000g|3:195417836-195445776_1000g|3:195428197-195442889_nsv515001|chr3:195452012-195457240_dbVar|3:195452013-195457240_1000g|chr3:195453277-195456053_dbVar|3:195454692-195475463_DDD:12537|chr3:195456053-195475056_dbVar|3:195457000-195471300_gnomAD-SV_v2.1_DUP_3_10621|chr3:195457141-195468593_dbVar|3:195457142-195468593_1000g|chr3:195457285-195471001_dbVar|chr3:195466565-195475056_dbVar|;po_B_gain_someG_coord=3:195240825-195502119_esv2763776|3:195320057-195470538_DDD:12519|3:195376589-195493533_TS40:ISCA-46592|3:195385823-195474165_DDD:12528|3:195417631-195471708_DDD:12530|3:195417836-195445776_1000g|3:195417836-195445776_1000g|3:195417836-195445776_dgv967e214|chr3:195452000-195457000_dbVar|3:195452013-195457240_1000g|3:195452013-195457240_dgv968e214|chr3:195453277-195475056_dbVar|chr3:195456053-195466565_dbVar|chr3:195457000-195471300_dbVar|chr3:195457000-195550000_dbVar|3:195457142-195468593_1000g|3:195457142-195468593_dgv969e214|chr3:195457816-195472945_dbVar|chr3:195471000-195476300_dbVar;po_B_loss_someG_source=3:195320057-195470538_DDD:12519|3:195383131-195446910_dgv5017n100|3:195385823-195474165_DDD:12528|chr3:195425199-195425686_dbVar|3:195454692-195475463_DDD:12537|3:195457142-195471062_dgv970e214|chr3:195457317-195471062_dbVar|chr3:195463643-195463762_dbVar;po_B_loss_someG_coord=3:195240825-195502119_esv2763776|3:195380279-195469564_HI40:ISCA-46589|3:195383143-195502119_esv2760775|3:195417631-195471708_DDD:12530|chr3:195451991-195452447_dbVar|chr3:195457141-195468593_dbVar|3:195457249-195471074_dgv906e199|3:195457318-195471062_1000g;Cosmic_ID=1158545|703362|668577|1066092|690004|794136|666582|674311|665255|915282|1019080|650094|650802|676953|689440|662061|669297|838978;Cosmic_mut_typ=gain|loss;GC_content_left=0.47;GC_content_right=0.415;Repeat_coord_left=3:195418975-195419071;Repeat_type_left=MER3;SegDup_left=3:195413607-195420395;ENCODE_blacklist_left=3:195341901-195476900;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=3:195341901-195476900;ENCODE_blacklist_characteristics_right=High_Signal_Region;DDD_HI_percent=95.22,.,.,95.22;NCBI_gene_ID=.,440993,693155,200958;LOEUF_bin=6,.,.,6;GnomAD_pLI=0.0047211,.,.,0.0047211;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(3_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1;END=195472855;SVLEN=-53686 GT 1/. -4 71553 . G . PASS AnnotSV_ID=4_71553_9371067_DEL_1;SV_start=71553;Biologist_annotation=4p-_syndrom;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p16.3-p16.1,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3-p16.2,p16.3,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2-p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1;Gene_name=ZNF595|ZNF718|ZNF876P|ZNF732|ZNF141|MIR571|ABCA11P|ZNF721|PIGG|TMEM271|LOC105374338|PDE6B|ATP5ME|MYL5|SLC49A3|PCGF3|PCGF3-AS1|CPLX1|GAK|TMEM175|DGKQ|SLC26A1|IDUA|FGFRL1|RNF212|LOC105374344|TMED11P|SPON2|LOC100130872|CTBP1-AS|CTBP1|CTBP1-DT|MAEA|UVSSA|NKX1-1|FAM53A|SLBP|TMEM129|TACC3|FGFR3|LETM1|NSD2|SCARNA22|NELFA|MIR943|C4orf48|NAT8L|POLN|HAUS3|MXD4|MIR4800|ZFYVE28|CFAP99|RNF4|FAM193A|TNIP2|SH3BP2|ADD1|MFSD10|NOP14-AS1|NOP14|GRK4|HTT-AS|HTT|MSANTD1|RGS12|HGFAC|DOK7|LRPAP1|LINC00955|LINC02171|ADRA2C|FAM86EP|OTOP1|TMEM128|LYAR|ZBTB49|NSG1|STX18|STX18-IT1|STX18-AS1|SNORD162|LOC101928279|LINC01396|MSX1|LOC101928306|CYTL1|STK32B|LINC01587|EVC2|EVC|CRMP1|MIR378D1|C4orf50|JAKMIP1|JAKMIP1-DT|WFS1|PPP2R2C|MAN2B2|MRFAP1|LINC02482|LOC93622|LINC02481|S100P|MRFAP1L1|BLOC1S4|KIAA0232|TBC1D14|LOC100129931|CCDC96|TADA2B|GRPEL1|LINC02447|SORCS2|MIR4798|PSAPL1|MIR4274|AFAP1-AS1|AFAP1|LOC389199|ABLIM2|MIR95|SH3TC1|HTRA3|LINC02517|ACOX3|TRMT44|GPR78|CPZ|HMX1|FAM90A26|USP17L10|USP17L11|USP17L12|USP17L13|USP17L15|USP17L17|USP17L18|USP17L19|USP17L20|USP17L21|USP17L22|USP17L24|USP17L25|USP17L26|USP17L5|USP17L27|USP17L28|USP17L29|USP17L9P|USP17L30|USP17L6P,ZNF595,ZNF718,ZNF876P,ZNF732,ZNF141,MIR571,ABCA11P,ZNF721,PIGG,TMEM271,LOC105374338,PDE6B,ATP5ME,MYL5,SLC49A3,PCGF3,PCGF3-AS1,CPLX1,GAK,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,LOC105374344,TMED11P,SPON2,LOC100130872,CTBP1-AS,CTBP1,CTBP1-DT,MAEA,UVSSA,NKX1-1,FAM53A,SLBP,TMEM129,TACC3,FGFR3,LETM1,NSD2,SCARNA22,NELFA,MIR943,C4orf48,NAT8L,POLN,HAUS3,MXD4,MIR4800,ZFYVE28,CFAP99,RNF4,FAM193A,TNIP2,SH3BP2,ADD1,MFSD10,NOP14-AS1,NOP14,GRK4,HTT-AS,HTT,MSANTD1,RGS12,HGFAC,DOK7,LRPAP1,LINC00955,LINC02171,ADRA2C,FAM86EP,OTOP1,TMEM128,LYAR,ZBTB49,NSG1,STX18,STX18-IT1,STX18-AS1,SNORD162,LOC101928279,LINC01396,MSX1,LOC101928306,CYTL1,STK32B,LINC01587,EVC2,EVC,CRMP1,MIR378D1,C4orf50,JAKMIP1,JAKMIP1-DT,WFS1,PPP2R2C,MAN2B2,MRFAP1,LINC02482,LOC93622,LINC02481,S100P,MRFAP1L1,BLOC1S4,KIAA0232,TBC1D14,LOC100129931,CCDC96,TADA2B,GRPEL1,LINC02447,SORCS2,MIR4798,PSAPL1,MIR4274,AFAP1-AS1,AFAP1,LOC389199,ABLIM2,MIR95,SH3TC1,HTRA3,LINC02517,ACOX3,TRMT44,GPR78,CPZ,HMX1,FAM90A26,USP17L10,USP17L11,USP17L12,USP17L13,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P;Closest_right=DEFB131A;Gene_count=152;Tx=.,NM_001286052,NM_001039127,NR_027481,NM_001137608,NM_003441,NR_030297,NR_002451,NM_133474,NM_001127178,NM_001362796,NR_148199,NM_000283,NM_007100,NM_001395441,NM_001294341,NM_001317836,NR_171661,NM_006651,NM_005255,NM_032326,NM_001347,NM_022042,NM_000203,NM_001004356,NM_001131034,NR_134676,NR_033768,NM_001199021,NR_024569,NR_104331,NM_001377186,NR_033339,NM_001017405,NM_001317934,NM_001290079,NM_001174070,NM_006527,NM_001127266,NM_006342,NM_001163213,NM_012318,NM_001042424,NR_003004,NM_005663,NR_030641,NM_001141936,NM_178557,NM_181808,NM_001303143,NM_006454,NR_039964,NM_020972,NM_001193282,NM_002938,NM_001366318,NM_024309,NM_001145856,NM_001354761,NM_001146069,NR_015453,NM_001291978,NM_182982,NR_045414,NM_002111,NM_001042690,NM_001394155,NM_001297439,NM_001301071,NM_002337,NR_040045,NR_034136,NM_000683,NR_130740,NM_177998,NM_001297551,NM_017816,NM_001330625,NM_001382227,NM_016930,NR_126434,NR_037888,NR_145783,NR_125892,NR_125765,NM_002448,NR_125893,NM_018659,NM_018401,NR_126519,NM_147127,NM_153717,NM_001014809,NR_039608,NM_001364689,NM_001099433,NR_037863,NM_001145853,NM_020416,NM_015274,NM_001272053,NR_134664,NM_138699,NR_147207,NM_005980,NM_203462,NM_018366,NM_001100590,NM_001113361,NR_033828,NM_153376,NM_152293,NM_025196,NR_027441,NM_020777,NR_039961,NM_001085382,NR_036238,NR_026892,NM_001134647,NR_172651,NM_001130083,NR_029511,NM_018986,NM_053044,NR_149125,NM_003501,NM_152544,NM_080819,NM_001014447,NM_018942,NM_001358418,NM_001256852,NM_001256854,NM_001256853,NM_001256855,NM_001256894,NM_001256857,NM_001256859,NM_001256860,NM_001256861,NM_001256862,NM_001256863,NM_001242327,NM_001242326,NM_001242328,NM_001242329,NM_001242330,NM_001242331,NM_001242332,NR_046416,NM_001256867,NR_027279;Tx_version=.,2,6,1,3,4,1,2,4,3,2,1,4,4,1,2,3,1,4,4,4,4,4,5,3,4,1,1,2,1,1,1,1,3,2,1,3,4,2,3,2,3,3,1,5,1,3,4,4,2,3,1,3,4,5,2,4,2,2,2,2,2,3,1,8,2,1,2,2,4,1,1,4,1,3,2,3,2,1,4,1,1,1,1,1,3,1,3,3,1,5,3,3,1,2,2,1,1,4,3,2,1,3,1,3,3,3,2,2,1,3,3,4,1,3,1,2,1,1,2,1,2,1,5,5,1,3,3,5,3,3,3,1,1,1,1,2,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1;Tx_start=.,53214,124382,206388,264463,331602,343945,419223,433776,492998,567668,570956,619361,666224,668330,675617,699620,754230,778744,843064,926247,952674,981444,980831,1005413,1065265,1107426,1108984,1160719,1189570,1203907,1205232,1243227,1283678,1340995,1396719,1641613,1694457,1717678,1723247,1795019,1813205,1873119,1976362,1984449,1988110,2043721,2061053,2073644,2230075,2249158,2251803,2271323,2420681,2470832,2538373,2743374,2819896,2845570,2932293,2937272,2939662,2965297,3064972,3076407,3250885,3287617,3443694,3465032,3505338,3578595,3675319,3768111,3943486,4190452,4237268,4269427,4291977,4388828,4420694,4477847,4543857,4666052,4763486,4846163,4861391,4922534,5016312,5053206,5526295,5564165,5712927,5822490,5925001,5958836,6027925,6202459,6271576,6322307,6576915,6642411,6672454,6675801,6689174,6695604,6709427,6717900,6784453,6911192,7032280,7042575,7045098,7060621,7099150,7194264,7312176,7432011,7461754,7755816,7760440,7940727,7967053,8007027,8201016,8271480,8321902,8368008,8442503,8582118,8594491,8868773,9172134,9212382,9217130,9221877,9226621,9236110,9245604,9250355,9255103,9259849,9264597,9269344,9326890,9331636,9336383,9341128,9345873,9350618,9355363,9360107,9364854,9369599;Tx_end=.,88096,157952,249774,299263,378657,344041,467998,492945,533989,570084,578655,664571,668065,675817,682940,763877,775637,819917,926104,952444,967357,987192,998352,1020686,1107352,1126763,1116952,1202632,1202750,1212379,1242918,1246795,1333925,1381837,1400230,1686040,1714046,1723050,1746898,1810594,1857883,1983919,1976487,2010701,1988204,2045691,2070816,2243848,2243848,2263836,2251883,2420372,2464729,2517584,2734300,2758063,2842823,2931789,2936552,2952805,2965133,3042487,3076241,3245687,3258340,3441640,3451213,3503209,3534149,3592712,3679582,3770253,3957155,4228656,4249950,4291881,4323510,4420785,4543775,4483427,4712665,4666150,4789101,4852554,4865663,4990398,5021185,5502716,5529528,5710286,5816032,5894813,5925055,6020273,6202276,6235663,6304992,6474341,6625089,6644456,6675608,6677774,6692246,6698897,6711592,6719391,6885891,7034841,7047958,7044728,7059679,7069791,7105103,7744554,7312251,7436657,7461845,7780655,7941588,7942023,8160540,8007108,8242830,8308825,8325692,8442450,8478282,8591750,8621479,8873565,9178456,9213975,9218723,9223470,9228214,9237772,9247197,9251948,9256696,9261442,9266190,9270937,9328483,9333229,9337976,9342721,9347466,9352211,9356956,9361700,9366447,9370796;Overlapped_tx_length=.,16544,33570,43386,34800,47055,96,48775,59169,40991,2416,7699,45210,1841,7487,7323,64257,21407,41173,83040,26197,14683,5748,17521,15273,42087,19337,7968,41913,13180,8472,37686,3568,50247,40842,3511,44427,19589,5372,23651,15575,44678,110800,125,26252,94,1970,9763,170204,13773,14678,80,149049,44048,46752,195927,14689,22927,86219,4259,15533,25471,77190,11269,169280,7455,154023,7519,38177,28811,14117,4263,2142,13669,38204,12682,22454,31533,31957,123081,5580,168808,98,25615,6391,4272,67864,4873,449510,3233,146121,103105,72323,54,61437,174351,33204,33416,152034,48174,2045,3154,1973,3072,3293,2165,1491,101438,123649,15678,2153,14581,9170,5953,550290,75,4646,91,24839,181148,1296,193487,81,41814,37345,3790,74442,35779,9632,26988,4792,6322,1593,1593,1593,1593,1662,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1197;Overlapped_CDS_length=.,1709,1239,0,1758,1425,0,0,2772,2952,1158,0,2565,210,522,1683,729,0,405,3936,1515,2829,2106,1962,1515,894,0,0,996,0,0,1326,0,1191,2130,1347,1197,813,1089,2517,2427,2220,4098,0,1587,0,288,909,2703,1812,630,0,2664,1941,573,4548,1290,1857,2400,1368,0,2574,1737,0,9429,837,4344,1989,1827,1074,0,0,1389,0,1839,498,1140,2298,585,1008,0,0,0,0,0,912,0,411,1245,0,3927,2979,2061,0,4527,2496,0,2673,1344,3030,384,0,360,0,288,384,654,4188,2082,0,1668,1263,654,0,3480,0,1566,0,0,2445,0,1938,0,4011,1362,0,2103,2274,1092,1959,1047,1395,1593,1593,1593,1593,1662,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,0,1593,0;Overlapped_CDS_percent=.,92,100,0,100,100,0,0,100,100,83,0,100,100,100,100,100,0,100,100,100,100,100,100,100,100,0,0,100,0,0,100,0,100,100,100,100,100,100,100,100,100,100,0,100,0,100,100,100,100,100,0,100,100,100,100,100,100,100,100,0,100,100,0,100,100,100,100,100,100,0,0,72,0,100,100,100,100,100,100,0,0,0,0,0,100,0,100,100,0,100,100,100,0,100,100,0,100,100,100,96,0,19,0,100,61,44,100,100,0,96,100,100,0,100,0,96,0,0,100,0,100,0,100,100,0,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,0,100,0;Frameshift=.,yes,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,8,6,2,4,4,1,3,3,13,1,3,22,4,9,10,12,3,4,28,11,23,3,14,7,10,3,4,8,4,6,9,2,9,14,2,5,8,4,16,18,14,22,1,11,1,4,3,26,6,6,1,13,16,8,21,6,13,16,13,4,18,16,3,67,3,18,15,10,8,3,3,1,4,6,5,10,8,6,11,4,6,1,3,4,2,3,4,12,4,22,21,14,1,12,21,4,8,9,19,3,2,1,3,2,2,1,9,14,4,1,2,4,2,27,1,1,1,2,18,1,21,1,18,9,4,18,11,3,11,2,7,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1;Location=.,intron2-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,CDS-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR;Dist_nearest_SS=.,12103,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;Nearest_SS_type=.,5',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;Intersect_start=.,71552,124382,206388,264463,331602,343945,419223,433776,492998,567668,570956,619361,666224,668330,675617,699620,754230,778744,843064,926247,952674,981444,980831,1005413,1065265,1107426,1108984,1160719,1189570,1203907,1205232,1243227,1283678,1340995,1396719,1641613,1694457,1717678,1723247,1795019,1813205,1873119,1976362,1984449,1988110,2043721,2061053,2073644,2230075,2249158,2251803,2271323,2420681,2470832,2538373,2743374,2819896,2845570,2932293,2937272,2939662,2965297,3064972,3076407,3250885,3287617,3443694,3465032,3505338,3578595,3675319,3768111,3943486,4190452,4237268,4269427,4291977,4388828,4420694,4477847,4543857,4666052,4763486,4846163,4861391,4922534,5016312,5053206,5526295,5564165,5712927,5822490,5925001,5958836,6027925,6202459,6271576,6322307,6576915,6642411,6672454,6675801,6689174,6695604,6709427,6717900,6784453,6911192,7032280,7042575,7045098,7060621,7099150,7194264,7312176,7432011,7461754,7755816,7760440,7940727,7967053,8007027,8201016,8271480,8321902,8368008,8442503,8582118,8594491,8868773,9172134,9212382,9217130,9221877,9226621,9236110,9245604,9250355,9255103,9259849,9264597,9269344,9326890,9331636,9336383,9341128,9345873,9350618,9355363,9360107,9364854,9369599;Intersect_end=.,88096,157952,249774,299263,378657,344041,467998,492945,533989,570084,578655,664571,668065,675817,682940,763877,775637,819917,926104,952444,967357,987192,998352,1020686,1107352,1126763,1116952,1202632,1202750,1212379,1242918,1246795,1333925,1381837,1400230,1686040,1714046,1723050,1746898,1810594,1857883,1983919,1976487,2010701,1988204,2045691,2070816,2243848,2243848,2263836,2251883,2420372,2464729,2517584,2734300,2758063,2842823,2931789,2936552,2952805,2965133,3042487,3076241,3245687,3258340,3441640,3451213,3503209,3534149,3592712,3679582,3770253,3957155,4228656,4249950,4291881,4323510,4420785,4543775,4483427,4712665,4666150,4789101,4852554,4865663,4990398,5021185,5502716,5529528,5710286,5816032,5894813,5925055,6020273,6202276,6235663,6304992,6474341,6625089,6644456,6675608,6677774,6692246,6698897,6711592,6719391,6885891,7034841,7047958,7044728,7059679,7069791,7105103,7744554,7312251,7436657,7461845,7780655,7941588,7942023,8160540,8007108,8242830,8308825,8325692,8442450,8478282,8591750,8621479,8873565,9178456,9213975,9218723,9223470,9228214,9237772,9247197,9251948,9256696,9261442,9266190,9270937,9328483,9333229,9337976,9342721,9347466,9352211,9356956,9361700,9366447,9370796;RE_gene=ACTC1_(morbid/RE=mTL_miRNA)|ACVR1_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AKT1_(morbid/RE=mTL_miRNA)|ANTXR2_(morbid/RE=mTL_miRNA)|ARF1_(morbid/RE=mTL_miRNA)|ARHGDIA_(morbid/RE=mTL_miRNA)|ARPC1B_(morbid/RE=mTL_miRNA)|ATAD5_(morbid/RE=mTL_miRNA)|ATXN2_(morbid/RE=mTL_miRNA)|B3GNT2_(morbid/RE=mTL_miRNA)|CAD_(morbid/RE=mTL_miRNA)|CALM2_(morbid/RE=mTL_miRNA)|CASK_(morbid/RE=mTL_miRNA)|CCNF_(morbid/RE=mTL_miRNA)|CDKN1A_(morbid/RE=mTL_miRNA)|CEBPD_(morbid/RE=mTL_miRNA)|CELF2_(morbid/RE=mTL_miRNA)|CEP55_(morbid/RE=mTL_miRNA)|CIITA_(morbid/RE=mTL_miRNA)|CNTNAP2_(morbid/RE=mTL_miRNA)|COL18A1_(morbid/RE=mTL_miRNA)|COL1A1_(HI=3/morbid/RE=mTL_miRNA)|CRCP_(morbid/RE=mTL_miRNA)|CREBBP_(HI=3/morbid/RE=mTL_miRNA)|CTCF_(HI=3/morbid/RE=mTL_miRNA)|DAAM2_(morbid/RE=mTL_miRNA)|DDR2_(morbid/RE=mTL_miRNA)|DDX3X_(HI=3/morbid/RE=mTL_miRNA)|DGKB_(morbid/RE=mTL_miRNA)|DUSP8_(morbid/RE=mTL_miRNA)|EDEM3_(morbid/RE=mTL_miRNA)|EGLN1_(morbid/RE=mTL_miRNA)|ELOVL5_(morbid/RE=mTL_miRNA)|EREG_(morbid/RE=mTL_miRNA)|ESCO2_(morbid/RE=mTL_miRNA)|FLCN_(HI=3/morbid/RE=mTL_miRNA)|FLVCR1_(morbid/RE=mTL_miRNA)|FOXC1_(HI=3/morbid/RE=mTL_miRNA)|FOXP2_(morbid/RE=mTL_miRNA)|G6PD_(morbid/RE=mTL_miRNA)|GABPA_(morbid/RE=mTL_miRNA)|GABRB2_(morbid/RE=mTL_miRNA)|GATA6_(HI=3/morbid/RE=mTL_miRNA)|GLI2_(HI=3/morbid/RE=mTL_miRNA)|GLUL_(morbid/RE=mTL_miRNA)|GNAS_(HI=3/morbid/RE=mTL_miRNA)|HERC2_(morbid/RE=mTL_miRNA)|HFE_(morbid/RE=mTL_miRNA)|HIF1AN_(morbid/RE=mTL_miRNA)...;P_gain_phen=Retinitis_pigmentosa|Retinitis_pigmentosa_40,.,.,.,.,.,.,.,.,.,.,.,Retinitis_pigmentosa|Retinitis_pigmentosa_40,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_hpo=HP:0000547,.,.,.,.,.,.,.,.,.,.,.,HP:0000547,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_source=CLN:801370|dbVar:nssv15124412|dbVar:nssv15130095|dbVar:nssv15132150|dbVar:nssv15132411|dbVar:nssv15132589|dbVar:nssv15133497|dbVar:nssv15153559|dbVar:nssv15161020|dbVar:nssv16255833|dbVar:nssv16867404|dbVar:nssv17172169|dbVar:nssv17973849|dbVar:nssv18330201,.,.,.,.,.,.,.,.,.,.,.,CLN:801370|dbVar:nssv15161020,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar:nssv17973849,dbVar:nssv17172169,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_coord=4:127234-8667610|4:1420949-1836794|4:1737489-1808653|4:1770487-2303110|4:374558-745174|4:5567009-5587839|4:5785270-5803831|4:614356-2959936|4:619584-619584|4:619590-619662|4:72448-3848881|4:72448-5608810|4:85041-4597934|4:963689-2913553,.,.,.,.,.,.,.,.,.,.,.,4:619584-619584|4:619590-619662,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:5567009-5587839,4:5785270-5803831,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_phen=4p16.3_terminal_(Wolf-Hirschhorn_syndrome)_region|?Cataract_41,_116400_(3)_AD|Deafness,_AD_6|14|38,_600965_(3)_AD|Wolfram_syndrome_1,_222300_(3)_AR|Wolfram-like_syndrome,_AD,_614296_(3)_AD|Diabetes_mellitus,_noninsulin-dependent,_association_with,_125853_(3)_AD|?Spermatogenic_failure_62,_619673_(3)_AR|Recombination_rate_QTL_1,_612042_(3)|?Weyers_acrofacial_dysostosis,_193530_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR|Achondroplasia,_100800_(3)_AD|Bladder_cancer,_somatic,_109800_(3)|CATSHL_syndrome,_610474_(3)_AR,AD|Cervical_cancer,_somatic,_603956_(3)|Colorectal_cancer,_somatic,_114500_(3)|Crouzon_syndrome_with_acanthosis_nigricans,_612247_(3)_AD|Hypochondroplasia,_146000_(3)_AD|LADD_syndrome_2,_620192_(3)_AD|Muenke_syndrome,_602849_(3)_AD|Nevus,_epidermal,_somatic,_162900_(3)|SADDAN,_616482_(3)_AD|Spermatocytic_seminoma,_somatic,_273300_(3)|Thanatophoric_dysplasia,_type_I,_187600_(3)_AD|Thanatophoric_dysplasia,_type_II,_187601_(3)_AD|Cherubism,_118400_(3)_AD|Curry-Hall_syndrome|Ellis-van_Creveld_syndrome|Developmental_and_epileptic_encephalopathy_63,_617976_(3)_AR|Ectodermal_dysplasia_3,_Witkop_type,_189500_(3)_AD|Orofacial_cleft_5,_608874_(3)_AD|Tooth_agenesis,_selective,_1,_with_or_without_orofacial_cleft,_106600_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR|Weyers_acrofacial_dysostosis,_193530_(3)_AD|Fetal_akinesia_deformation_sequence_3,_618389_(3)_AR|Myasthenic_syndrome,_congenital,_10,_254300_(3)_AR|Huntington_disease,_143100_(3)_AD|Lopes-Maciel-Rodan_syndrome,_617435_(3)_AR|Hurler_syndrome|Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome,_617915_(3)_AD|Mucopolysaccharidosis_Ih,_607014_(3)_AR|Mucopolysaccharidosis_Ih|s,_607015_(3)_AR|Mucopolysaccharidosis_Is,_607016_(3)_AR|Mucopolysaccharidosis_type_1|Myopia_23,_AR,_615431_(3)_AR|Neurodegeneration,_childhood-onset,_with_multisystem_involvement_due_to_mitochondrial_dysfunction,_620089_(3)_AR|Neurodevelopmental_disorder_with_or_without_hypotonia,_seizures,_and_cerebellar_atrophy,_616917_(3)_AR|Blood_group,_EMM_system,_619812_(3)_AR|Night_blindness,_congenital_stationary,_AD_2,_163500_(3)_AD|Retinitis_pigmentosa-40,_613801_(3)_AR|Oculoauricular_syndrome,_612109_(3)_AR|Rauch-Steindl_syndrome,_619695_(3)_AD|UV-sensitive_syndrome_3,_614640_(3)_AR,.,.,.,.,.,.,.,.,Neurodevelopmental_disorder_with_or_without_hypotonia,_seizures,_and_cerebellar_atrophy,_616917_(3)_AR|Blood_group,_EMM_system,_619812_(3)_AR,.,.,Night_blindness,_congenital_stationary,_AD_2,_163500_(3)_AD|Retinitis_pigmentosa-40,_613801_(3)_AR,.,.,.,.,.,Developmental_and_epileptic_encephalopathy_63,_617976_(3)_AR,.,.,.,.,Hurler_syndrome|Mucopolysaccharidosis_Ih,_607014_(3)_AR|Mucopolysaccharidosis_Ih|s,_607015_(3)_AR|Mucopolysaccharidosis_Is,_607016_(3)_AR|Mucopolysaccharidosis_type_1,.,?Spermatogenic_failure_62,_619673_(3)_AR|Recombination_rate_QTL_1,_612042_(3),.,.,.,.,.,.,.,.,UV-sensitive_syndrome_3,_614640_(3)_AR,.,.,.,.,.,Achondroplasia,_100800_(3)_AD|Bladder_cancer,_somatic,_109800_(3)|CATSHL_syndrome,_610474_(3)_AR,AD|Cervical_cancer,_somatic,_603956_(3)|Colorectal_cancer,_somatic,_114500_(3)|Crouzon_syndrome_with_acanthosis_nigricans,_612247_(3)_AD|Hypochondroplasia,_146000_(3)_AD|LADD_syndrome_2,_620192_(3)_AD|Muenke_syndrome,_602849_(3)_AD|Nevus,_epidermal,_somatic,_162900_(3)|SADDAN,_616482_(3)_AD|Spermatocytic_seminoma,_somatic,_273300_(3)|Thanatophoric_dysplasia,_type_I,_187600_(3)_AD|Thanatophoric_dysplasia,_type_II,_187601_(3)_AD,Neurodegeneration,_childhood-onset,_with_multisystem_involvement_due_to_mitochondrial_dysfunction,_620089_(3)_AR,Rauch-Steindl_syndrome,_619695_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Cherubism,_118400_(3)_AD,.,.,.,.,.,.,Huntington_disease,_143100_(3)_AD|Lopes-Maciel-Rodan_syndrome,_617435_(3)_AR,.,.,.,Fetal_akinesia_deformation_sequence_3,_618389_(3)_AR|Myasthenic_syndrome,_congenital,_10,_254300_(3)_AR,Myopia_23,_AR,_615431_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Ectodermal_dysplasia_3,_Witkop_type,_189500_(3)_AD|Orofacial_cleft_5,_608874_(3)_AD|Tooth_agenesis,_selective,_1,_with_or_without_orofacial_cleft,_106600_(3)_AD,.,.,.,.,.,?Weyers_acrofacial_dysostosis,_193530_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR|Curry-Hall_syndrome|Ellis-van_Creveld_syndrome,.,.,.,.,.,?Cataract_41,_116400_(3)_AD|Deafness,_AD_6|14|38,_600965_(3)_AD|Wolfram_syndrome_1,_222300_(3)_AR|Wolfram-like_syndrome,_AD,_614296_(3)_AD|Diabetes_mellitus,_noninsulin-dependent,_association_with,_125853_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Oculoauricular_syndrome,_612109_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_hpo=HP:0000943,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,HP:0000943,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_source=CLN:1313135|CLN:2672009|CLN:961843|HI3:ISCA-37429|HI3:MSX1|HI3:NSD2|dbVar:nssv15119851|dbVar:nssv15121023|dbVar:nssv15121032|dbVar:nssv15121033|dbVar:nssv15121034|dbVar:nssv15121217|dbVar:nssv15121218|dbVar:nssv15121687|dbVar:nssv15122678|dbVar:nssv15123516|dbVar:nssv15124520|dbVar:nssv15127349|dbVar:nssv15130945|dbVar:nssv15131476|dbVar:nssv15131910|dbVar:nssv15132407|dbVar:nssv15132408|dbVar:nssv15132580|nssv15140019|dbVar:nssv15132953|dbVar:nssv15133489|dbVar:nssv15133490|dbVar:nssv15133634|dbVar:nssv15134794|dbVar:nssv15134826|dbVar:nssv15135086|dbVar:nssv15135107|dbVar:nssv15138367|dbVar:nssv15138802|dbVar:nssv15138941|dbVar:nssv15139309|dbVar:nssv15144315|dbVar:nssv15147286|dbVar:nssv15153560|dbVar:nssv15153562|dbVar:nssv15605891|dbVar:nssv15606061|dbVar:nssv15770186|dbVar:nssv15770321|dbVar:nssv16211870|dbVar:nssv16212102|dbVar:nssv16213046|dbVar:nssv16213271|dbVar:nssv16213451|dbVar:nssv16213572|dbVar:nssv16213637|dbVar:nssv16213802|dbVar:nssv16214176|dbVar:nssv16214333|dbVar:nssv16216714|dbVar:nssv16252200|dbVar:nssv16253953|dbVar:nssv16254938|dbVar:nssv16297119|dbVar:nssv16297131|dbVar:nssv16867405|dbVar:nssv17171362|dbVar:nssv17171376|dbVar:nssv17171391|dbVar:nssv17171923|dbVar:nssv17172168|dbVar:nssv17172572|dbVar:nssv17172573|dbVar:nssv17172574|dbVar:nssv17172955|dbVar:nssv17173143|dbVar:nssv17173159|dbVar:nssv17683620|dbVar:nssv17970729|dbVar:nssv17970732|dbVar:nssv17971217|dbVar:nssv17971266|dbVar:nssv17971361|dbVar:nssv17971686|dbVar:nssv17971734|dbVar:nssv17971799|dbVar:nssv17971904|dbVar:nssv17972056|dbVar:nssv17972166|dbVar:nssv17972432|dbVar:nssv17973718|nssv17974037|dbVar:nssv17973748|dbVar:nssv17974578|dbVar:nssv17975024|dbVar:nssv17976233|dbVar:nssv17976464|dbVar:nssv17976477|dbVar:nssv17976550|dbVar:nssv18326580|dbVar:nssv18786244|dbVar:nssv18786333|dbVar:nssv18787193|dbVar:nssv18788241|dbVar:nssv18788242|dbVar:nssv18788927|dbVar:nssv18788928|dbVar:nssv18790018|dbVar:nssv18790019|dbVar:nssv18790020|dbVar:nssv18790021|dbVar:nssv18790022|dbVar:nssv18790117|dbVar:nssv18790118|dbVar:nssv18790119|dbVar:nssv18790120|dbVar:nssv18790121|dbVar:nssv18790180|dbVar:nssv18790633|dbVar:nssv18791534|dbVar:nssv18791535|dbVar:nssv18791536|dbVar:nssv18791537|dbVar:nssv18791538|dbVar:nssv18791542|dbVar:nssv18830727|morbid:CPLX1|morbid:CTBP1|morbid:DOK7|morbid:EVC|morbid:EVC2|morbid:FGFR3|morbid:HMX1|morbid:HTRA3|morbid:HTT|morbid:IDUA|morbid:LETM1|morbid:LRPAP1|morbid:MSX1|morbid:NSD2|morbid:PDE6B|morbid:PIGG|morbid:RNF212|morbid:SH3BP2|morbid:UVSSA|morbid:WFS1,.,.,.,.,.,.,.,.,dbVar:nssv17683620|dbVar:nssv17974578|dbVar:nssv17976464|dbVar:nssv17976477|dbVar:nssv18791534|dbVar:nssv18791536|dbVar:nssv18791537|dbVar:nssv18791538|morbid:PIGG,.,.,dbVar:nssv16213572|dbVar:nssv16213637|dbVar:nssv17171376|dbVar:nssv17171923|dbVar:nssv18788927|dbVar:nssv18788928|morbid:PDE6B,.,.,.,.,.,morbid:CPLX1,.,.,.,.,CLN:2672009|CLN:961843|dbVar:nssv16216714|dbVar:nssv18830727|morbid:IDUA,.,morbid:RNF212,.,.,.,.,.,.,.,.,morbid:UVSSA,.,.,.,.,.,morbid:FGFR3,morbid:LETM1,morbid:NSD2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,morbid:SH3BP2,.,.,.,.,.,.,morbid:HTT,.,.,.,dbVar:nssv15130945|dbVar:nssv15131476|dbVar:nssv15770186|dbVar:nssv16213451|dbVar:nssv16214333|dbVar:nssv17971686|dbVar:nssv17972166|dbVar:nssv17976550|dbVar:nssv18786333|dbVar:nssv18790180|morbid:DOK7,morbid:LRPAP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,HI3:MSX1|morbid:MSX1,.,.,.,.,dbVar:nssv15770321|dbVar:nssv16213046|dbVar:nssv16213271|dbVar:nssv16297119|dbVar:nssv17172955|dbVar:nssv17971266|dbVar:nssv17971361|dbVar:nssv17972056|dbVar:nssv18790018|dbVar:nssv18790020|dbVar:nssv18790021|dbVar:nssv18790022,CLN:1313135|dbVar:nssv15144315|dbVar:nssv16211870|dbVar:nssv16297131|dbVar:nssv17172168|dbVar:nssv17172572|dbVar:nssv17172573|dbVar:nssv17172574|dbVar:nssv17971734|dbVar:nssv17973718|nssv17974037|dbVar:nssv17975024|dbVar:nssv18786244|dbVar:nssv18790117|dbVar:nssv18790118|dbVar:nssv18790119|dbVar:nssv18790120|morbid:EVC,.,.,.,.,.,dbVar:nssv18790633|morbid:WFS1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,morbid:HTRA3,.,.,.,.,.,morbid:HMX1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_coord=4:1087097-1107352|4:1190912-2255904|4:1205233-1244143|4:1228529-2862002|4:129754-9371067|4:1305803-2460571|4:1340996-1381837|4:1619776-2181192|4:1701019-1975031|4:1784695-1919793|4:1795020-1810594|4:1813206-1857883|4:1827029-1860753|4:1873124-1983934|4:1902353-1950545|4:1941634-3879802|4:1966267-5913899|4:2009467-3080412|4:2200252-5710240|4:2364202-5447465|4:2820541-2842823|4:2909441-6871516|4:3076408-3245687|4:3085428-7591673|4:331569-2010962|4:3465094-3495238|4:3465104-3465298|4:3475114-3491543|4:3478271-3491403|4:3486271-3496209|4:3487104-3487370|4:3487247-3495248|4:3487257-3487395|4:3487257-3495238|4:3494467-3495228|4:3495083-3495158|4:3505339-3534149|4:3776785-7361544|4:388345-3872380|4:4859066-4864603|4:4861392-4865663|4:4861393-4865663|4:4861628-6304195|4:492999-533989|4:493126-2065854|4:493126-663896|4:493126-998181|4:493969-499930|4:494166-494410|4:499508-502759|4:501175-533158|4:502599-509994|4:507006-2214932|4:509743-533158|4:512203-518547|4:520809-1020391|4:524206-527790|4:5563147-5711294|4:5564166-5711275|4:5564566-5578191|4:5564566-5586587|4:5564566-5759862|4:5564576-5567096|4:5565511-5811251|4:5570162-5570377|4:5576403-5576509|4:5617140-5812774|4:5630277-5633769|4:5630336-5635926|4:5630338-5635927|4:5636440-5710337|4:5642222-5642585|4:5682978-5735172|4:5690875-5691080|4:5690875-5696238|4:5696053-5696238|4:5710004-5750043|4:5711925-5817031|4:5712928-5816032|4:5713109-5714221|4:5713159-5713318|4:5731025-5759862|4:5733143-5735172|4:5749726-5755670|4:5754554-5755670|4:5754554-5758099|4:5754554-5785501|4:5754599-5758602|4:5785270-5812774|4:5795340-5795484|4:5795341-5795483|4:5798730-5798979|4:5798740-5798969|4:5803668-5806578|4:5809919-5811348|4:619417-619883|4:6271577-6304992|4:6279184-6279434|4:629670-670728|4:646966-664571|4:647642-648677|4:651220-652826|4:652722-656427|4:652742-656407|4:660321-661795|4:664193-671649|4:72448-2110334|4:72448-2327204|4:72448-2691306|4:72448-3208040|4:72448-3563382|4:72448-3725774|4:72448-3787112|4:72448-4360445|4:72448-4889835|4:72448-5036718|4:72448-5214111|4:72448-5346537|4:72448-6245152|4:72448-7831152|4:75743-8672411|4:778745-819917|4:78471-3364946|4:8271481-8308825|4:85041-1921232|4:85041-2010262|4:85041-4407509|4:85041-7065426|4:85041-7845343|4:8613755-8873340|4:8868774-8873565|4:980776-981040|4:980776-981747|4:990308-992083|4:990309-992082|4:993498-998345|4:994391-998355|4:996510-998192|4:996511-998191|4:996511-998355,.,.,.,.,.,.,.,.,4:492999-533989|4:493969-499930|4:494166-494410|4:499508-502759|4:501175-533158|4:502599-509994|4:509743-533158|4:512203-518547|4:524206-527790,.,.,4:619417-619883|4:646966-664571|4:647642-648677|4:651220-652826|4:652722-656427|4:652742-656407|4:660321-661795,.,.,.,.,.,4:778745-819917,.,.,.,.,4:990308-992083|4:990309-992082|4:993498-998345|4:996510-998192|4:996511-998191,.,4:1087097-1107352,.,.,.,.,.,.,.,.,4:1340996-1381837,.,.,.,.,.,4:1795020-1810594,4:1813206-1857883,4:1902353-1950545,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:2820541-2842823,.,.,.,.,.,.,4:3076408-3245687,.,.,.,4:3465094-3495238|4:3465104-3465298|4:3475114-3491543|4:3478271-3491403|4:3486271-3496209|4:3487104-3487370|4:3487247-3495248|4:3487257-3487395|4:3487257-3495238|4:3494467-3495228|4:3495083-3495158,4:3505339-3534149,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:4861392-4865663|4:4861393-4865663,.,.,.,.,4:5564566-5578191|4:5564566-5586587|4:5564576-5567096|4:5570162-5570377|4:5576403-5576509|4:5630277-5633769|4:5630336-5635926|4:5630338-5635927|4:5642222-5642585|4:5690875-5691080|4:5690875-5696238|4:5696053-5696238,4:5712928-5816032|4:5713109-5714221|4:5713159-5713318|4:5731025-5759862|4:5733143-5735172|4:5749726-5755670|4:5754554-5755670|4:5754554-5758099|4:5754554-5785501|4:5754599-5758602|4:5785270-5812774|4:5795340-5795484|4:5795341-5795483|4:5798730-5798979|4:5798740-5798969|4:5803668-5806578|4:5809919-5811348,.,.,.,.,.,4:6271577-6304992|4:6279184-6279434,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:8271481-8308825,.,.,.,.,.,4:8868774-8873565,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;po_P_gain_source=dbVar:nssv15165478|dbVar:nssv15148693|dbVar:nssv15149137|dbVar:nssv15125120|dbVar:nssv151349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al_cancer|Cone-rod_dystrophy|Congenital_Stationary_Night_Blindness,_Dominant|Congenital_laryngomalacia|Congenital_myasthenic_syndrome|Congenital_myasthenic_syndrome_10|Congenital_stationary_night_blindness_autosomal_dominant_2|Connective_tissue_disorder|Coronal_craniosynostosis|Craniosynostosis_syndrome|Crouzon_syndrome|Crouzon_syndrome-acanthosis_nigricans_syndrome|Curry-Hall_syndrome|DOK7-related_condition|Dandy-Walker_syndrome|Developmental_and_epileptic_encephalopathy,_63|Diabetes_mellitus|Diaphragmatic_eventration|Disproportionate_short-limb_short_stature|Duane_retraction_syndrome|EVC-related_condition|EVC2-related_condition|Ellis-van_Creveld_syndrome|Emm-null_phenotype|Epidermal_nevus|FGFR3-Related_Disorders|FGFR3-related_chondrodysplasia|FGFR3-related_condition|FGFR3-related_disorder|Facial_asymmetry|Feeding_difficulties|Femoral_bowing|Fetal_akinesia_deformation_sequence_1|Fetal_akinesia_deformation_sequence_3|Fibrous_dysplasia_of_jaw|Generalized_non-motor_(absence)_seizure|Germ_cell_tumor_of_testis|Global_developmental_delay|Growth_delay|Hamartoma|Hurler_syndrome|Hydronephrosis|Hydroureter|Hypochondroplasia|Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome|Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome|IDUA-related_condition|Inborn_genetic_diseases|Infantile_axial_hypotonia|Intellectual_disability,_autosomal_recessive_53|Interstitial_pneumonitis|Isolated_microphthalmia_6|Jeune_thoracic_dystrophy|Larsen_syndrome|Leber_congenital_amaurosis|Lethal_short-limbed_short_stature|Levy-Hollister_syndrome|Lower_limb_undergrowth|Lung_adenocarcinoma|MSX1-related_condition|Malignant_tumor_of_testis|Malignant_tumor_of_urinary_bladder|Microglossia|Micrognathia|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis,_MPS-IV-A|Mucopolysaccharidosis_type_1|Mucopolysacchariduria|Muenke_syndrome|Multiple_myeloma|Myopia_23,_autosomal_recessive|NSD2_related_disorders|Narrow_chest|Neurodevelopmental_delay|Night_blindness|Nonsyndromic_genetic_hearing_loss|PDE6B-Related_Disorders|PDE6B-related_condition|PDE6B-related_disorder|PIGG-related_condition|Papillary_renal_cell_carcinoma,_sporadic|Rare_genetic_deafness|Rauch-Steindl_syndrome|Retinal_dystrophy|Retinitis_pigmentosa|Retinitis_pigmentosa_40|Rett_syndrome|Rod-cone_dystrophy|SEVERE_ACHONDRODYSPLASIA_WITH_DEVELOPMENTAL_DELAY_AND_ACANTHOSIS_NIGRICANS|Saethre-Chotzen_syndrome|Seborrheic_keratosis|See_cases|Seizure|Sensorineural_hearing_loss_disorder|Severe_achondroplasia-developmental_delay-acanthosis_nigricans_syndrome|Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly|Short_ribs|Short_stature|Skeletal_dysplasia|Skeletal_dysplasia_with_acanthosis_nigricans|Small_for_gestational_age|Small_hand|Smith-Magenis_Syndrome-like|Spermatocytic_seminoma|Squamous_cell_carcinoma_of_the_head_and_neck|Squamous_cell_lung_carcinoma|Syndromic_intellectual_disability|Thanatophoric_dysplasia|Thanatophoric_dysplasia,_type_2|Thanatophoric_dysplasia_type_1|Transitional_cell_carcinoma_of_the_bladder|Type_2_diabetes_mellitus|Type_IV_short_rib_polydactyly_syndrome|Tyrosinase-positive_oculocutaneous_albinism|Unilateral_renal_agenesis|Upper_limb_undergrowth|Urinary_bladder_carcinoma|WFS1-Related_Spectrum_Disorders|WFS1-related_condition|WFS1-related_disorder|Wolf-Hirschhorn_like_syndrome|Wolfram-like_syndrome|Wolfram_syndrome|Wolfram_syndrome_1|not_specified,.,.,.,.,.,.,.,.,Emm-null_phenotype|Inborn_genetic_diseases|Intellectual_disability,_autosomal_recessive_53|PIGG-related_condition,.,.,Autosomal_recessive_retinitis_pigmentosa|Cone-rod_dystrophy|Congenital_Stationary_Night_Blindness,_Dominant|Congenital_stationary_night_blindness_autosomal_dominant_2|Leber_congenital_amaurosis|PDE6B-Related_Disorders|PDE6B-related_condition|PDE6B-related_disorder|Retinal_dystrophy|Retinitis_pigmentosa|Retinitis_pigmentosa_40|Rod-cone_dystrophy|Tyrosinase-positive_oculocutaneous_albinism,.,.,.,.,.,Developmental_and_epileptic_encephalopathy,_63,.,.,.,Abnormality_of_mucopolysaccharide_metabolism|Hurler_syndrome|IDUA-related_condition|Interstitial_pneumonitis|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis_type_1,Abnormality_of_mucopolysaccharide_metabolism|Hurler_syndrome|IDUA-related_condition|Inborn_genetic_diseases|Interstitial_pneumonitis|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis,_MPS-IV-A|Mucopolysaccharidosis_type_1|Mucopolysacchariduria|See_cases,.,.,.,.,.,.,Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome|Inborn_genetic_diseases,Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome|Inborn_genetic_diseases,.,.,.,.,.,.,.,.,Abnormality_of_the_nervous_system|Acanthosis_nigricans|Achondroplasia|Bell-shaped_thorax|Bowed_humerus|Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome|Carcinoma|Carcinoma_of_colon|Cervical_cancer|Colorectal_cancer|Connective_tissue_disorder|Coronal_craniosynostosis|Craniosynostosis_syndrome|Crouzon_syndrome|Crouzon_syndrome-acanthosis_nigricans_syndrome|Disproportionate_short-limb_short_stature|Epidermal_nevus|FGFR3-Related_Disorders|FGFR3-related_chondrodysplasia|FGFR3-related_condition|FGFR3-related_disorder|Facial_asymmetry|Femoral_bowing|Generalized_non-motor_(absence)_seizure|Germ_cell_tumor_of_testis|Growth_delay|Hamartoma|Hypochondroplasia|Inborn_genetic_diseases|Infantile_axial_hypotonia|Larsen_syndrome|Lethal_short-limbed_short_stature|Levy-Hollister_syndrome|Lower_limb_undergrowth|Lung_adenocarcinoma|Malignant_tumor_of_testis|Malignant_tumor_of_urinary_bladder|Muenke_syndrome|Multiple_myeloma|Narrow_chest|Neurodevelopmental_delay|Papillary_renal_cell_carcinoma,_sporadic|SEVERE_ACHONDRODYSPLASIA_WITH_DEVELOPMENTAL_DELAY_AND_ACANTHOSIS_NIGRICANS|Saethre-Chotzen_syndrome|Seborrheic_keratosis|See_cases|Seizure|Severe_achondroplasia-developmental_delay-acanthosis_nigricans_syndrome|Short_ribs|Short_stature|Skeletal_dysplasia|Skeletal_dysplasia_with_acanthosis_nigricans|Small_for_gestational_age|Spermatocytic_seminoma|Squamous_cell_carcinoma_of_the_head_and_neck|Squamous_cell_lung_carcinoma|Thanatophoric_dysplasia|Thanatophoric_dysplasia,_type_2|Thanatophoric_dysplasia_type_1|Transitional_cell_carcinoma_of_the_bladder|Unilateral_renal_agenesis|Upper_limb_undergrowth|Urinary_bladder_carcinoma|not_specified,.,4p_partial_monosomy_syndrome|Global_developmental_delay|Inborn_genetic_diseases|NSD2_related_disorders|Neurodevelopmental_delay|Rauch-Steindl_syndrome|Syndromic_intellectual_disability|Wolf-Hirschhorn_like_syndrome,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Fibrous_dysplasia_of_jaw,.,.,.,.,.,.,.,.,.,.,Abnormality_of_the_musculature|Congenital_myasthenic_syndrome|Congenital_myasthenic_syndrome_10|DOK7-related_condition|Fetal_akinesia_deformation_sequence_1|Fetal_akinesia_deformation_sequence_3|Inborn_genetic_diseases|Rett_syndrome|See_cases,Myopia_23,_autosomal_recessive,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome|MSX1-related_condition,.,.,.,.,Curry-Hall_syndrome|EVC2-related_condition|Ellis-van_Creveld_syndrome|Inborn_genetic_diseases|Jeune_thoracic_dystrophy|Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly|Type_IV_short_rib_polydactyly_syndrome|not_specified,Curry-Hall_syndrome|EVC-related_condition|Ellis-van_Creveld_syndrome|Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly,.,.,.,Smith-Magenis_Syndrome-like,.,Abnormality_of_the_cervical_spine|Abnormality_of_the_diaphragm|Abnormality_of_the_vertebral_column|Arachnodactyly|Autosomal_dominant_nonsyndromic_hearing_loss_6|Cataract_41|Cerebellar_vermis_hypoplasia|Cleft_palate|Congenital_laryngomalacia|Dandy-Walker_syndrome|Diabetes_mellitus|Diaphragmatic_eventration|Duane_retraction_syndrome|Feeding_difficulties|Global_developmental_delay|Hydronephrosis|Hydroureter|Inborn_genetic_diseases|Microglossia|Micrognathia|Night_blindness|Nonsyndromic_genetic_hearing_loss|Rare_genetic_deafness|See_cases|Sensorineural_hearing_loss_disorder|Small_hand|Type_2_diabetes_mellitus|WFS1-Related_Spectrum_Disorders|WFS1-related_condition|WFS1-related_disorder|Wolfram-like_syndrome|Wolfram_syndrome|Wolfram_syndrome_1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Isolated_microphthalmia_6,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;B_gain_source=.,dbVar|esv2763806,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,dbVar,dbVar,dbVar,dbVar,.,.,dbVar,.,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,.,dbVar,.,.,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,.,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,.,dbVar,.,.,.,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,.,.,.,.,.,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|DDD:12922|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|DDD:12922|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|DDD:12922|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174;B_gain_coord=.,4:12282-121562|chr4:67914-130131,chr4:71970-524981|chr4:103000-188000,chr4:71970-524981|chr4:191270-254556,chr4:71970-524981,chr4:71970-524981|chr4:297194-398976|chr4:308401-399950,chr4:71970-524981|chr4:297194-398976|chr4:308401-399950|chr4:335381-378075,chr4:71970-524981,chr4:71970-524981,.,.,.,chr4:613000-729000,chr4:613000-729000|chr4:653000-672000,chr4:613000-729000,chr4:613000-729000,.,.,chr4:754376-832076,.,.,.,chr4:968425-1004663,chr4:968425-1004663,chr4:997718-1171806,chr4:997718-1171806,chr4:997718-1171806,chr4:997718-1171806,.,.,.,.,chr4:1212000-1328000,.,.,chr4:1395250-1402000,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr4:2235501-2406763|chr4:2237000-2302000,chr4:2235501-2406763|chr4:2237000-2302000,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr4:3599563-3715752|chr4:3601813-3701023|chr4:3621281-3742478,.,chr4:3895471-4250523|chr4:3898327-4166047|chr4:3906095-3993252|chr4:3938384-4025767|chr4:3939497-4298000,chr4:3895471-4250523|chr4:3939497-4298000,chr4:3895471-4250523|chr4:3939497-4298000,chr4:3939497-4298000,.,.,.,.,.,.,chr4:4763025-4828041,chr4:4785101-5227993|chr4:4833228-4894750,chr4:4785101-5227993|chr4:4833228-4894750,chr4:4785101-5227993,chr4:4785101-5227993,.,chr4:5486512-5554541,.,.,.,.,.,chr4:5960239-6587328,chr4:5960239-6587328,chr4:5960239-6587328,chr4:5960239-6587328,chr4:6438729-6651391,chr4:6438729-6651391,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr4:8311538-8373454,.,.,.,.,.,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560|4:9212771-9237062,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560|4:9212771-9237062,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560|4:9212771-9237062,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181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pportive,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;GenCC_pmid=.,.,.,.,.,23160277|26394607[PMID]_23160277[PMID],.,.,.,26996948|28581210|28771251,.,.,12641462|17044014|19578023|20301590[PMID]|22334370|22968130|24265693|24760071|24938718|25472526|26667666|28559085|30646425|8075643|8075643[PMID]|8394174|8595886,.,.,.,.,.,11163241|26539891|28422131|28422131[PMID],.,.,.,24250268|27210743,10466419|10735634|11735025|21394825|21480867|22976768|23917744|4221470|6821579|7550232|7951228|8328452|8664897|8680403[PMID]|9391892,.,25342176|31125047,.,.,.,.,.,12101226|26480814|27094857|28408745|28955726|30356033|31041561|32075774|9524128,.,.,22466610|22466610[PMID]_22466611[PMID]_22466612[PMID],.,.,.,.,.,10053006|10053006[PMID]_18076102[PMID]|10215410|10671061|10696568|10914960[PMID]|11055896|11406607|11467490|15909185|16411219|16441300|16501574|16501574[PMID]|16912704|17033969|17033969[PMID]_24864036[PMID]|18076102|18818193|194190|19449430|20301540[PMID]|20301588[PMID]_20301628[PMID]_21438135[PMID]|20301628[PMID]|20301650[PMID]_23149434[PMID]|21536014|23149434[PMID]|24864036|27139183|28249712|28483234|7493034|7647778|7670477|7758520|7773297|7847369|7913883|8078586|8589686|8630492|8640234|8845844|8880573|8880574|9042914|9279753|9300656|9450868|9452043|9580776,26960370|27287194|30378700|30773800|36055214,19483677|26633542|28600779|29760529|29892088|30244530|30345613|31171569|9618163,.,.,.,.,11310630|15328569|16802720|19807691|26511242,.,.,.,.,.,.,.,.,.,11381256|12900899|17147794|17321449|17368082|19038533|22153076|22153077|22640988|24382142|24916406|26064398|NULL,.,.,.,.,.,.,11264541|17181545[PMID]|20301482[PMID]_21566141[PMID]|248284|26740508|27329733|7550343|7618107|7774020|8401587|8458085,.,.,.,16794080|16917026|17439981|18626973|19261599|19261599[PMID]|20147321|20301347[PMID]|29395672|31453852|32360404,23830514|25525168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,1054139|10742093|10815578|11369996|11369996[PMID]|12097313|12807959|15264286|15354328|16498076|26502894|4521949|8466837|8469557|8696335|9742121|NULL,.,.,.,.,16404586|17024374|17547743|19810119|19876929|225500|22616035|23220543|23220543[PMID]_22791528[PMID]_12571802[PMID]_12468274[PMID]|23220543[PMID]_22791528[PMID]_16404586[PMID],10700184|10700184[PMID]|12468274|12571802|14217223|17024374|21815252|23220543|23220543[PMID]_22791528[PMID]_19744229[PMID]_18947413[PMID]|26748586|29321360|30076350|7218275|7628126,.,.,.,.,.,10521293|11161832|11295831|11317648|11709537|11709538|12073007|12107816|12707373|12754709|12955714|14724730|15070927|15151504|15277431|15503287|15605410|16151413|16442662|16459465|16648378|16806192|16806192[PMID]_12913071[PMID]|17492394|17568405|18544103|18660851|18806274|19042979|19160074|20069065|20069065[PMID]_20301750[PMID]|20301607[PMID]_24148127[PMID]|20875904|21067485|21446023|21538838|21564155|21602428|21623591|21726277|21823543|21968327|22226368|222300|22238590|22311385|22781099|23103830|23373429|23531866|23531866[PMID]|243330|248846|251462|25250959|25390390|27395765|28802351|29529044|31313226|31555371|34014271|35018440|606201|9771706,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,18423520|18423520[PMID]_25574057[PMID]|19379485|25574057|29140751,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,152687,255403,642280,654254,7700,693156,79963,170960,54872,112441426,.,5158,521,4636,84179,10336,100129917,10815,2580,84286,1609,10861,3425,53834,285498,.,100379220,10417,.,285463,1487,92070,10296,57654,54729,152877,7884,92305,10460,2261,3954,7468,677770,7469,100126332,401115,339983,353497,79441,10608,100616358,57732,402160,6047,8603,79155,6452,118,10227,317648,8602,2868,100750326,3064,345222,6002,3083,285489,4043,285492,100133461,152,348926,133060,85013,55646,166793,27065,53407,104472519,100507266,109623454,.,103695434,4487,.,54360,55351,10141,132884,2121,1400,100616201,389197,152789,285484,7466,5522,23324,93621,105374366,.,339988,6286,114932,55330,9778,57533,.,257236,93624,80273,730971,57537,100616471,768239,100422826,84740,60312,.,84448,407052,54436,726,105374374,8310,152992,27201,8532,3166,100287045,100287144,100287178,100287205,100287238,100288520,100287327,100287364,100287404,100287441,100287478,100287513,728369,728373,728379,728386,728393,728400,728405,391627,728419,391622;OMIM_ID=194648|616918|180072|605032|610130|252800|612041|602618|614632|134934|604407|602952|610647|602104|102680|613004|610285|104225|104250|142983|607261|604831|606201|142992,.,.,.,.,194648,.,.,.,616918,.,.,180072,.,.,.,.,.,605032,.,.,.,610130,252800,.,612041,.,.,.,.,.,602618,.,.,614632,.,.,.,.,.,134934,604407,602952,.,.,.,.,610647,.,.,.,.,.,.,.,.,.,602104,102680,.,.,.,.,.,613004,.,.,.,610285,104225,.,.,104250,.,.,.,.,.,.,.,.,.,.,.,.,142983,.,.,.,.,607261,604831,.,.,.,.,.,606201,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,142992,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_phenotype=.,.,.,.,.,?Polydactyly,_postaxial,_type_A6,_615226_(3)_AR,.,.,.,Neurodevelopmental_disorder_with_or_without_hypotonia,_seizures,_and_cerebellar_atrophy,_616917_(3)_AR|[Blood_group,_EMM_system],_619812_(3)_AR,.,.,Night_blindness,_congenital_stationary,_AD_2,_163500_(3)_AD|Retinitis_pigmentosa-40,_613801_(3)_AR,.,.,.,.,.,Developmental_and_epileptic_encephalopathy_63,_617976_(3)_AR,.,.,.,?Hypersulfaturia,_620372_(3)_AR|?Nephrolithiasis,_calcium_oxalate,_1,_167030_(3)_AR,Mucopolysaccharidosis_Ih,_607014_(3)_AR|Mucopolysaccharidosis_Ih/s,_607015_(3)_AR|Mucopolysaccharidosis_Is,_607016_(3)_AR,.,?Spermatogenic_failure_62,_619673_(3)_AR|Recombination_rate_QTL_1,_612042_(3),.,.,.,.,.,Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome,_617915_(3)_AD,.,.,UV-sensitive_syndrome_3,_614640_(3)_AR,.,.,.,.,.,Achondroplasia,_100800_(3)_AD|Bladder_cancer,_somatic,_109800_(3)|CATSHL_syndrome,_610474_(3)_AD,AR|Cervical_cancer,_somatic,_603956_(3)|Colorectal_cancer,_somatic,_114500_(3)|Crouzon_syndrome_with_acanthosis_nigricans,_612247_(3)_AD|Hypochondroplasia,_146000_(3)_AD|LADD_syndrome_2,_620192_(3)_AD|Muenke_syndrome,_602849_(3)_AD|Nevus,_epidermal,_somatic,_162900_(3)|SADDAN,_616482_(3)_AD|Spermatocytic_seminoma,_somatic,_273300_(3)|Thanatophoric_dysplasia,_type_I,_187600_(3)_AD|Thanatophoric_dysplasia,_type_II,_187601_(3)_AD,Neurodegeneration,_childhood-onset,_with_multisystem_involvement_due_to_mitochondrial_dysfunction,_620089_(3)_AR,Rauch-Steindl_syndrome,_619695_(3)_AD,.,.,.,.,?N-acetylaspartate_deficiency,_614063_(3)_AR,.,.,.,.,.,.,.,.,.,Cherubism,_118400_(3)_AD,(Hypertension,_essential,_salt-sensitive),_145500_(3)_Multifactorial,.,.,.,.,.,Huntington_disease,_143100_(3)_AD|Lopes-Maciel-Rodan_syndrome,_617435_(3)_AR,.,.,.,Fetal_akinesia_deformation_sequence_3,_618389_(3)_AR|Myasthenic_syndrome,_congenital,_10,_254300_(3)_AR,Myopia_23,_AR,_615431_(3)_AR,.,.,(Congestive_heart_failure_and_beta-blocker_response,_modifier_of)_(3),.,.,.,.,.,.,.,.,.,.,.,.,Ectodermal_dysplasia_3,_Witkop_type,_189500_(3)_AD|Orofacial_cleft_5,_608874_(3)_AD|Tooth_agenesis,_selective,_1,_with_or_without_orofacial_cleft,_106600_(3)_AD,.,.,.,.,Ellis-van_Creveld_syndrome,_225500_(3)_AR|Weyers_acrofacial_dysostosis,_193530_(3)_AD,?Weyers_acrofacial_dysostosis,_193530_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR,.,.,.,.,.,?Cataract_41,_116400_(3)_AD|Deafness,_AD_6/14/38,_600965_(3)_AD|Wolfram_syndrome_1,_222300_(3)_AR|Wolfram-like_syndrome,_AD,_614296_(3)_AD|(Diabetes_mellitus,_noninsulin-dependent,_association_with),_125853_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Oculoauricular_syndrome,_612109_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_inheritance=.,.,.,.,.,AR,.,.,.,AR,.,.,AD|AR,.,.,.,.,.,AR,.,.,.,AR,AR,.,AR,.,.,.,.,.,AD,.,.,AR,.,.,.,.,.,AD|AD,AR,AR,AD,.,.,.,.,AR,.,.,.,.,.,.,.,.,.,AD,Multifactorial,.,.,.,.,.,AD|AR,.,.,.,AR,AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,AD|AR,AD|AR,.,.,.,.,.,AD|AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_morbid=yes,.,.,.,.,.,.,.,.,yes,.,.,yes,.,.,.,.,.,yes,.,.,.,yes,yes,.,yes,.,.,.,.,.,yes,.,.,yes,.,.,.,.,.,yes,yes,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,yes,.,.,.,yes,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,yes,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_morbid_candidate=yes,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,yes,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;LOEUF_bin=0,6,.,.,7,7,.,.,9,5,.,.,6,.,9,.,1,.,2,1,6,3,8,6,3,4,.,.,9,.,.,1,.,2,7,3,6,4,8,3,3,3,.,.,2,.,7,2,7,6,2,.,2,.,2,0,3,6,1,7,.,2,6,.,0,2,3,4,5,6,8,.,3,.,9,8,5,4,7,5,.,.,.,.,.,5,.,9,5,.,5,5,1,.,7,0,.,9,1,5,6,.,.,.,9,8,9,0,2,.,8,2,4,.,2,.,.,.,.,3,.,2,.,7,6,.,5,7,9,9,3,9,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;GnomAD_pLI=1,0.3055,.,.,0.098159,0.10393,.,.,0.094789,5.4258e-15,.,.,2.6155e-27,.,8.4023e-14,.,0.95326,.,0.82499,0.0051818,3.0549e-09,1.7603e-09,1.0564e-11,3.7599e-13,0.011908,0.0015645,.,.,2.6609e-15,.,.,0.98442,.,0.22741,5.4127e-25,0.71465,0.0035705,0.068148,2.3074e-11,2.7082e-07,1.6432e-05,1.2141e-06,.,.,0.13469,.,0.51423,0.86458,9.488e-41,1.2992e-09,0.77635,.,0.07234,.,0.79973,0.99993,0.0015926,1.156e-11,0.9883,7.3331e-11,.,2.1363e-06,1.6286e-15,.,1,0.80456,4.0922e-09,1.9843e-08,0.00010263,4.4951e-07,0.45772,.,0.50159,.,4.8437e-24,0.00019994,3.758e-07,1.3752e-08,0.0088286,2.4881e-07,.,.,.,.,.,0.16517,.,1.0733e-05,4.9116e-08,.,1.0207e-34,3.4620000000000003e-25,0.99173,.,7.736100000000001e-19,0.99986,.,1.6230999999999999e-38,0.89954,6.557e-23,0.31404,.,.,.,0.033257,0.0025481,0.10151,0.99999,0.039267,.,1.9555e-17,0.72366,0.13916,.,0.0031696,.,.,.,.,2.3828e-07,.,0.0045858,.,6.0939e-35,6.5843e-08,.,7.6016e-16,2.0315e-22,2.6834e-06,8.8063e-36,0.72623,0.28656,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;ExAC_pLI=1,1.7753e-05,.,.,1.3118e-09,0.16189,.,.,5.9729e-11,8.7751e-07,.,.,1.6257e-13,.,4.4299e-08,.,0.9434,.,0.79579,0.97313,0.00043963,0.001194,4.013e-06,2.6418e-08,0.58219,0.12523,.,.,1.0881e-06,.,.,0.97976,.,0.84486,8.8875e-14,0.18842,3.007e-05,0.51566,1.5746e-06,0.091952,0.0029091,0.081055,.,.,0.16689,.,.,0.32468,2.9965999999999997e-32,8.8992e-07,0.89694,.,0.88846,.,0.62895,0.99782,2.9733e-06,0.0031019,0.6113,3.0178e-07,.,0.017449,5.6904e-07,.,1,0.32217,0.00056037,5.2082e-07,0.0048084,0.0060843,.,.,0.64595,.,7.3147e-16,0.11006,0.00013245,0.0091642,0.0045383,1.1678e-06,.,.,.,.,.,0.27536,.,0.00065277,0.0043235,.,1.0532999999999999e-21,8.015e-08,0.95327,.,6.3423e-10,0.99317,.,.,0.56445,4.3573e-18,0.17706,.,.,.,0.048649,0.008908,0.15897,0.99472,0.909,.,2.7054e-06,0.34506,0.89627,.,0.0026463,.,3.335e-11,.,.,0.37607,.,0.76242,.,1.082e-27,1.7199e-05,.,3.0316e-12,1.4776e-13,1.2826e-05,4.5079999999999994e-21,0.12528,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;AnnotSV_ranking_score=1.9;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3C_(152_genes,_+0.90)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=9371067;SVLEN=-9299514 GT 1/. +3 195419169 . A . PASS AnnotSV_ID=3_195419169_195472855_DEL_1;SV_start=195419169;Biologist_ranking=Benign;Annotation_mode=full,split,split,split;CytoBand=q29;Gene_name=MIR570HG|MIR570|MUC20,MIR570HG,MIR570,MUC20;Closest_left=SDHAP2;Closest_right=MUC4;Gene_count=3;Tx=.,NR_122105,NR_030296,NM_001282506;Tx_version=.,1,1,2;Tx_start=.,195415368,195426271,195447848;Tx_end=.,195438746,195426368,195460422;Overlapped_tx_length=.,19578,97,12574;Overlapped_CDS_length=.,0,0,2130;Overlapped_CDS_percent=.,0,0,100;Frameshift=.,no,no,no;Exon_count=.,5,1,4;Location=.,intron2-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,UTR,5'UTR-3'UTR;Dist_nearest_SS=.,2859,.,.;Nearest_SS_type=.,5',.,.;Intersect_start=.,195419168,195426271,195447848;Intersect_end=.,195438746,195426368,195460422;RE_gene=ABCB7_(morbid/RE=mTL_miRNA)|ABHD5_(morbid/RE=mTL_miRNA)|ADAM22_(morbid/RE=mTL_miRNA)|ANXA11_(morbid/RE=mTL_miRNA)|ATP6V1B2_(morbid/RE=mTL_miRNA)|BICD2_(morbid/RE=mTL_miRNA)|BTD_(morbid/RE=mTL_miRNA)|CALM1_(morbid/RE=mTL_miRNA)|CALM3_(morbid/RE=mTL_miRNA)|CAVIN1_(morbid/RE=mTL_miRNA)|CBFB_(morbid/RE=mTL_miRNA)|CCDC115_(morbid/RE=mTL_miRNA)|CDKN1B_(HI=3/morbid/RE=mTL_miRNA)|CHD1_(morbid/RE=mTL_miRNA)|CHSY1_(morbid/RE=mTL_miRNA)|CLCN3_(morbid/RE=mTL_miRNA)|CRTAP_(morbid/RE=mTL_miRNA)|CSNK2A1_(morbid/RE=mTL_miRNA)|DDHD1_(morbid/RE=mTL_miRNA)|ELOVL5_(morbid/RE=mTL_miRNA)|EPG5_(morbid/RE=mTL_miRNA)|ESCO2_(morbid/RE=mTL_miRNA)|EXOC2_(morbid/RE=mTL_miRNA)|FBXW7_(morbid/RE=mTL_miRNA)|FTH1_(morbid/RE=mTL_miRNA)|GDF6_(morbid/RE=mTL_miRNA)|GSR_(morbid/RE=mTL_miRNA)|IGF1R_(HI=3/morbid/RE=mTL_miRNA)|IL6R_(morbid/RE=mTL_miRNA)|IREB2_(morbid/RE=mTL_miRNA)|KCNB1_(morbid/RE=mTL_miRNA)|KLHL15_(morbid/RE=mTL_miRNA)|KREMEN1_(morbid/RE=mTL_miRNA)|LEMD2_(morbid/RE=mTL_miRNA)|MRPL3_(morbid/RE=mTL_miRNA)|MYO1C_(morbid/RE=mTL_miRNA)|NDRG1_(morbid/RE=mTL_miRNA)|NDUFA12_(morbid/RE=mTL_miRNA)|P3H2_(morbid/RE=mTL_miRNA)|PAX2_(HI=3/morbid/RE=mTL_miRNA)|PCYT1A_(morbid/RE=GH_enhancer)|PEX2_(morbid/RE=mTL_miRNA)|PGK1_(morbid/RE=mTL_miRNA)|PHF6_(HI=3/morbid/RE=mTL_miRNA)|RAC1_(morbid/RE=mTL_miRNA)|RNF168_(morbid/RE=GH_enhancer)|SAMD12_(morbid/RE=mTL_miRNA)|SETD5_(HI=3/morbid/RE=mTL_miRNA)|SMC5_(morbid/RE=mTL_miRNA)|SOX3_(morbid/RE=mTL_miRNA)...;po_P_gain_source=dbVar:nssv15162889|dbVar:nssv15164144|dbVar:nssv15149891|nssv15151839|dbVar:nssv15148025|dbVar:nssv15146977|dbVar:nssv15145927|dbVar:nssv15147555|dbVar:nssv15147518|dbVar:nssv15145707|dbVar:nssv15149548|dbVar:nssv15148262|dbVar:nssv15146719|dbVar:nssv18326383|dbVar:nssv15164224|dbVar:nssv15147464|dbVar:nssv15148839|dbVar:nssv15142547|dbVar:nssv15153539|dbVar:nssv17976740|dbVar:nssv15153542|dbVar:nssv15153544|dbVar:nssv15164241|dbVar:nssv15152868|dbVar:nssv15755821|dbVar:nssv15146377|dbVar:nssv15146980|dbVar:nssv15153546|dbVar:nssv15145873|dbVar:nssv15149008|dbVar:nssv15145905|dbVar:nssv15146981|dbVar:nssv16254509|dbVar:nssv16736615|dbVar:nssv15148110;po_P_gain_coord=3:60175-197948027|3:61496-197838262|3:61893-197851986|3:103145727-197837049|3:147239680-197823436|3:151818302-197845254|3:155836231-197851986|3:156039668-197840323|3:157011168-197861598|3:158980632-197766890|3:165854998-197851986|3:167885357-197837049|3:171549422-198022430|3:173281267-197838262|3:175886314-197845254|3:176157700-197845254|3:177246494-197837049|3:182539235-197851986|3:183498521-197851986|3:184003968-197851986|3:186374366-197851986|3:186374672-197838262|3:187913568-197851986|3:188386567-197838262|3:188983161-197837049|3:190385453-197837049|3:191593620-197851986|3:192470727-197845254|3:193422395-197851986|3:194013987-197837069|3:194145226-197895629|3:195068029-197851986|3:195419169-197387258|3:195438670-197837049;po_P_gain_percent=0.03|0.03|0.03|0.06|0.11|0.12|0.13|0.13|0.13|0.14|0.17|0.18|0.20|0.22|0.24|0.25|0.26|0.35|0.37|0.39|0.47|0.47|0.54|0.57|0.61|0.72|0.86|1.00|1.21|1.40|1.43|1.93|2.73|1.43;po_P_loss_source=dbVar:nssv15146266|dbVar:nssv15128822|dbVar:nssv15165459|dbVar:nssv17955845|dbVar:nssv17955930|dbVar:nssv15145831;po_P_loss_coord=3:185203638-197837049|3:185599935-196462295|3:189101447-197838262|3:189608637-197532175|3:191866467-197842171|3:194059264-197420612;po_P_loss_percent=0.42|0.49|0.61|0.68|0.90|1.60;B_gain_source=DDD:12528|TS40:ISCA-46592|dbVar|esv2760775|esv2763776,1000g|DDD:12519|DDD:12528|DDD:12530|TS40:ISCA-46592|dbVar|dgv967e214|esv2760775|esv2763776,1000g|DDD:12519|DDD:12528|DDD:12530|TS40:ISCA-46592|dbVar|dgv967e214|esv2760775|esv2763776,DDD:12519|DDD:12528|DDD:12530|TS40:ISCA-46592|dbVar|esv2760775|esv2763776;B_gain_coord=3:195240825-195502119|chr3:195272344-195742942|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|chr3:195398446-195473245,3:195240825-195502119|chr3:195272344-195742942|3:195320057-195470538|chr3:195340839-195456934|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|chr3:195398446-195473245|3:195417631-195471708|chr3:195417835-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776,3:195240825-195502119|chr3:195272344-195742942|3:195320057-195470538|chr3:195340839-195456934|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|chr3:195398446-195473245|3:195417631-195471708|chr3:195417835-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776,3:195240825-195502119|chr3:195272344-195742942|3:195320057-195470538|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|chr3:195398446-195473245|3:195417631-195471708;B_gain_AFmax=0.03,0.4682,0.4682,0.0556;B_loss_source=DDD:12528|esv2760775|esv2763776,DDD:12519|DDD:12528|DDD:12530|HI40:ISCA-46589|dgv5017n100|esv2760775|esv2763776,DDD:12519|DDD:12528|DDD:12530|HI40:ISCA-46589|dgv5017n100|esv2760775|esv2763776,DDD:12519|DDD:12528|DDD:12530|HI40:ISCA-46589|esv2760775|esv2763776;B_loss_coord=3:195240825-195502119|3:195383143-195502119|3:195385823-195474165,3:195240825-195502119|3:195320057-195470538|3:195380279-195469564|3:195383131-195446910|3:195383143-195502119|3:195385823-195474165|3:195417631-195471708,3:195240825-195502119|3:195320057-195470538|3:195380279-195469564|3:195383131-195446910|3:195383143-195502119|3:195385823-195474165|3:195417631-195471708,3:195240825-195502119|3:195320057-195470538|3:195380279-195469564|3:195383143-195502119|3:195385823-195474165|3:195417631-195471708;B_loss_AFmax=0.03,0.0746,0.0746,0.0746;B_inv_source=IMH;B_inv_coord=3:195371562-197367616|3:195376259-197363816|3:195409822-195693354|3:195413625-195689159|3:195417390-195684632|3:195418302-195683569;B_inv_AFmax=0.1142;po_B_gain_someG_source=chr3:195272344-195742942_dbVar|chr3:195340839-195456934_dbVar|3:195383143-195502119_esv2760775|chr3:195398446-195473245_dbVar|chr3:195417835-195445776_dbVar|3:195417836-195445776_1000g|3:195417836-195445776_1000g|3:195428197-195442889_nsv515001|chr3:195452012-195457240_dbVar|3:195452013-195457240_1000g|chr3:195453277-195456053_dbVar|3:195454692-195475463_DDD:12537|chr3:195456053-195475056_dbVar|3:195457000-195471300_gnomAD-SV_v2.1_DUP_3_10621|chr3:195457141-195468593_dbVar|3:195457142-195468593_1000g|chr3:195457285-195471001_dbVar|chr3:195466565-195475056_dbVar|;po_B_gain_someG_coord=3:195240825-195502119_esv2763776|3:195320057-195470538_DDD:12519|3:195376589-195493533_TS40:ISCA-46592|3:195385823-195474165_DDD:12528|3:195417631-195471708_DDD:12530|3:195417836-195445776_1000g|3:195417836-195445776_1000g|3:195417836-195445776_dgv967e214|chr3:195452000-195457000_dbVar|3:195452013-195457240_1000g|3:195452013-195457240_dgv968e214|chr3:195453277-195475056_dbVar|chr3:195456053-195466565_dbVar|chr3:195457000-195471300_dbVar|chr3:195457000-195550000_dbVar|3:195457142-195468593_1000g|3:195457142-195468593_dgv969e214|chr3:195457816-195472945_dbVar|chr3:195471000-195476300_dbVar;po_B_loss_someG_source=3:195320057-195470538_DDD:12519|3:195383131-195446910_dgv5017n100|3:195385823-195474165_DDD:12528|chr3:195425199-195425686_dbVar|3:195454692-195475463_DDD:12537|3:195457142-195471062_dgv970e214|chr3:195457317-195471062_dbVar|chr3:195463643-195463762_dbVar;po_B_loss_someG_coord=3:195240825-195502119_esv2763776|3:195380279-195469564_HI40:ISCA-46589|3:195383143-195502119_esv2760775|3:195417631-195471708_DDD:12530|chr3:195451991-195452447_dbVar|chr3:195457141-195468593_dbVar|3:195457249-195471074_dgv906e199|3:195457318-195471062_1000g;Cosmic_ID=1158545|703362|668577|1066092|690004|794136|666582|674311|665255|915282|1019080|650094|650802|676953|689440|662061|669297|838978;Cosmic_mut_typ=gain|loss;GC_content_left=0.47;GC_content_right=0.415;Repeat_coord_left=3:195418975-195419071;Repeat_type_left=MER3;SegDup_left=3:195413607-195420395;ENCODE_blacklist_left=3:195341901-195476900;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=3:195341901-195476900;ENCODE_blacklist_characteristics_right=High_Signal_Region;DDD_HI_percent=95.22,.,.,95.22;NCBI_gene_ID=.,440993,693155,200958;LOEUF_bin=6,.,.,6;GnomAD_pLI=0.0047211,.,.,0.0047211;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(3_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1;END=195472855;SVLEN=-53686 GT 1/. +4 71553 . G . PASS AnnotSV_ID=4_71553_9371067_DEL_1;SV_start=71553;Biologist_annotation=4p-_syndrom;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p16.3-p16.1,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3-p16.2,p16.3,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2-p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1;Gene_name=ZNF595|ZNF718|ZNF876P|ZNF732|ZNF141|MIR571|ABCA11P|ZNF721|PIGG|TMEM271|LOC105374338|PDE6B|ATP5ME|MYL5|SLC49A3|PCGF3|PCGF3-AS1|CPLX1|GAK|TMEM175|DGKQ|SLC26A1|IDUA|FGFRL1|RNF212|LOC105374344|TMED11P|SPON2|LOC100130872|CTBP1-AS|CTBP1|CTBP1-DT|MAEA|UVSSA|NKX1-1|FAM53A|SLBP|TMEM129|TACC3|FGFR3|LETM1|NSD2|SCARNA22|NELFA|MIR943|C4orf48|NAT8L|POLN|HAUS3|MXD4|MIR4800|ZFYVE28|CFAP99|RNF4|FAM193A|TNIP2|SH3BP2|ADD1|MFSD10|NOP14-AS1|NOP14|GRK4|HTT-AS|HTT|MSANTD1|RGS12|HGFAC|DOK7|LRPAP1|LINC00955|LINC02171|ADRA2C|FAM86EP|OTOP1|TMEM128|LYAR|ZBTB49|NSG1|STX18|STX18-IT1|STX18-AS1|SNORD162|LOC101928279|LINC01396|MSX1|LOC101928306|CYTL1|STK32B|LINC01587|EVC2|EVC|CRMP1|MIR378D1|C4orf50|JAKMIP1|JAKMIP1-DT|WFS1|PPP2R2C|MAN2B2|MRFAP1|LINC02482|LOC93622|LINC02481|S100P|MRFAP1L1|BLOC1S4|KIAA0232|TBC1D14|LOC100129931|CCDC96|TADA2B|GRPEL1|LINC02447|SORCS2|MIR4798|PSAPL1|MIR4274|AFAP1-AS1|AFAP1|LOC389199|ABLIM2|MIR95|SH3TC1|HTRA3|LINC02517|ACOX3|TRMT44|GPR78|CPZ|HMX1|FAM90A26|USP17L10|USP17L11|USP17L12|USP17L13|USP17L15|USP17L17|USP17L18|USP17L19|USP17L20|USP17L21|USP17L22|USP17L24|USP17L25|USP17L26|USP17L5|USP17L27|USP17L28|USP17L29|USP17L9P|USP17L30|USP17L6P,ZNF595,ZNF718,ZNF876P,ZNF732,ZNF141,MIR571,ABCA11P,ZNF721,PIGG,TMEM271,LOC105374338,PDE6B,ATP5ME,MYL5,SLC49A3,PCGF3,PCGF3-AS1,CPLX1,GAK,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,LOC105374344,TMED11P,SPON2,LOC100130872,CTBP1-AS,CTBP1,CTBP1-DT,MAEA,UVSSA,NKX1-1,FAM53A,SLBP,TMEM129,TACC3,FGFR3,LETM1,NSD2,SCARNA22,NELFA,MIR943,C4orf48,NAT8L,POLN,HAUS3,MXD4,MIR4800,ZFYVE28,CFAP99,RNF4,FAM193A,TNIP2,SH3BP2,ADD1,MFSD10,NOP14-AS1,NOP14,GRK4,HTT-AS,HTT,MSANTD1,RGS12,HGFAC,DOK7,LRPAP1,LINC00955,LINC02171,ADRA2C,FAM86EP,OTOP1,TMEM128,LYAR,ZBTB49,NSG1,STX18,STX18-IT1,STX18-AS1,SNORD162,LOC101928279,LINC01396,MSX1,LOC101928306,CYTL1,STK32B,LINC01587,EVC2,EVC,CRMP1,MIR378D1,C4orf50,JAKMIP1,JAKMIP1-DT,WFS1,PPP2R2C,MAN2B2,MRFAP1,LINC02482,LOC93622,LINC02481,S100P,MRFAP1L1,BLOC1S4,KIAA0232,TBC1D14,LOC100129931,CCDC96,TADA2B,GRPEL1,LINC02447,SORCS2,MIR4798,PSAPL1,MIR4274,AFAP1-AS1,AFAP1,LOC389199,ABLIM2,MIR95,SH3TC1,HTRA3,LINC02517,ACOX3,TRMT44,GPR78,CPZ,HMX1,FAM90A26,USP17L10,USP17L11,USP17L12,USP17L13,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P;Closest_right=DEFB131A;Gene_count=152;Tx=.,NM_001286052,NM_001039127,NR_027481,NM_001137608,NM_003441,NR_030297,NR_002451,NM_133474,NM_001127178,NM_001362796,NR_148199,NM_000283,NM_007100,NM_001395441,NM_001294341,NM_001317836,NR_171661,NM_006651,NM_005255,NM_032326,NM_001347,NM_022042,NM_000203,NM_001004356,NM_001131034,NR_134676,NR_033768,NM_001199021,NR_024569,NR_104331,NM_001377186,NR_033339,NM_001017405,NM_001317934,NM_001290079,NM_001174070,NM_006527,NM_001127266,NM_006342,NM_001163213,NM_012318,NM_001042424,NR_003004,NM_005663,NR_030641,NM_001141936,NM_178557,NM_181808,NM_001303143,NM_006454,NR_039964,NM_020972,NM_001193282,NM_002938,NM_001366318,NM_024309,NM_001145856,NM_001354761,NM_001146069,NR_015453,NM_001291978,NM_182982,NR_045414,NM_002111,NM_001042690,NM_001394155,NM_001297439,NM_001301071,NM_002337,NR_040045,NR_034136,NM_000683,NR_130740,NM_177998,NM_001297551,NM_017816,NM_001330625,NM_001382227,NM_016930,NR_126434,NR_037888,NR_145783,NR_125892,NR_125765,NM_002448,NR_125893,NM_018659,NM_018401,NR_126519,NM_147127,NM_153717,NM_001014809,NR_039608,NM_001364689,NM_001099433,NR_037863,NM_001145853,NM_020416,NM_015274,NM_001272053,NR_134664,NM_138699,NR_147207,NM_005980,NM_203462,NM_018366,NM_001100590,NM_001113361,NR_033828,NM_153376,NM_152293,NM_025196,NR_027441,NM_020777,NR_039961,NM_001085382,NR_036238,NR_026892,NM_001134647,NR_172651,NM_001130083,NR_029511,NM_018986,NM_053044,NR_149125,NM_003501,NM_152544,NM_080819,NM_001014447,NM_018942,NM_001358418,NM_001256852,NM_001256854,NM_001256853,NM_001256855,NM_001256894,NM_001256857,NM_001256859,NM_001256860,NM_001256861,NM_001256862,NM_001256863,NM_001242327,NM_001242326,NM_001242328,NM_001242329,NM_001242330,NM_001242331,NM_001242332,NR_046416,NM_001256867,NR_027279;Tx_version=.,2,6,1,3,4,1,2,4,3,2,1,4,4,1,2,3,1,4,4,4,4,4,5,3,4,1,1,2,1,1,1,1,3,2,1,3,4,2,3,2,3,3,1,5,1,3,4,4,2,3,1,3,4,5,2,4,2,2,2,2,2,3,1,8,2,1,2,2,4,1,1,4,1,3,2,3,2,1,4,1,1,1,1,1,3,1,3,3,1,5,3,3,1,2,2,1,1,4,3,2,1,3,1,3,3,3,2,2,1,3,3,4,1,3,1,2,1,1,2,1,2,1,5,5,1,3,3,5,3,3,3,1,1,1,1,2,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1;Tx_start=.,53214,124382,206388,264463,331602,343945,419223,433776,492998,567668,570956,619361,666224,668330,675617,699620,754230,778744,843064,926247,952674,981444,980831,1005413,1065265,1107426,1108984,1160719,1189570,1203907,1205232,1243227,1283678,1340995,1396719,1641613,1694457,1717678,1723247,1795019,1813205,1873119,1976362,1984449,1988110,2043721,2061053,2073644,2230075,2249158,2251803,2271323,2420681,2470832,2538373,2743374,2819896,2845570,2932293,2937272,2939662,2965297,3064972,3076407,3250885,3287617,3443694,3465032,3505338,3578595,3675319,3768111,3943486,4190452,4237268,4269427,4291977,4388828,4420694,4477847,4543857,4666052,4763486,4846163,4861391,4922534,5016312,5053206,5526295,5564165,5712927,5822490,5925001,5958836,6027925,6202459,6271576,6322307,6576915,6642411,6672454,6675801,6689174,6695604,6709427,6717900,6784453,6911192,7032280,7042575,7045098,7060621,7099150,7194264,7312176,7432011,7461754,7755816,7760440,7940727,7967053,8007027,8201016,8271480,8321902,8368008,8442503,8582118,8594491,8868773,9172134,9212382,9217130,9221877,9226621,9236110,9245604,9250355,9255103,9259849,9264597,9269344,9326890,9331636,9336383,9341128,9345873,9350618,9355363,9360107,9364854,9369599;Tx_end=.,88096,157952,249774,299263,378657,344041,467998,492945,533989,570084,578655,664571,668065,675817,682940,763877,775637,819917,926104,952444,967357,987192,998352,1020686,1107352,1126763,1116952,1202632,1202750,1212379,1242918,1246795,1333925,1381837,1400230,1686040,1714046,1723050,1746898,1810594,1857883,1983919,1976487,2010701,1988204,2045691,2070816,2243848,2243848,2263836,2251883,2420372,2464729,2517584,2734300,2758063,2842823,2931789,2936552,2952805,2965133,3042487,3076241,3245687,3258340,3441640,3451213,3503209,3534149,3592712,3679582,3770253,3957155,4228656,4249950,4291881,4323510,4420785,4543775,4483427,4712665,4666150,4789101,4852554,4865663,4990398,5021185,5502716,5529528,5710286,5816032,5894813,5925055,6020273,6202276,6235663,6304992,6474341,6625089,6644456,6675608,6677774,6692246,6698897,6711592,6719391,6885891,7034841,7047958,7044728,7059679,7069791,7105103,7744554,7312251,7436657,7461845,7780655,7941588,7942023,8160540,8007108,8242830,8308825,8325692,8442450,8478282,8591750,8621479,8873565,9178456,9213975,9218723,9223470,9228214,9237772,9247197,9251948,9256696,9261442,9266190,9270937,9328483,9333229,9337976,9342721,9347466,9352211,9356956,9361700,9366447,9370796;Overlapped_tx_length=.,16544,33570,43386,34800,47055,96,48775,59169,40991,2416,7699,45210,1841,7487,7323,64257,21407,41173,83040,26197,14683,5748,17521,15273,42087,19337,7968,41913,13180,8472,37686,3568,50247,40842,3511,44427,19589,5372,23651,15575,44678,110800,125,26252,94,1970,9763,170204,13773,14678,80,149049,44048,46752,195927,14689,22927,86219,4259,15533,25471,77190,11269,169280,7455,154023,7519,38177,28811,14117,4263,2142,13669,38204,12682,22454,31533,31957,123081,5580,168808,98,25615,6391,4272,67864,4873,449510,3233,146121,103105,72323,54,61437,174351,33204,33416,152034,48174,2045,3154,1973,3072,3293,2165,1491,101438,123649,15678,2153,14581,9170,5953,550290,75,4646,91,24839,181148,1296,193487,81,41814,37345,3790,74442,35779,9632,26988,4792,6322,1593,1593,1593,1593,1662,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1197;Overlapped_CDS_length=.,1709,1239,0,1758,1425,0,0,2772,2952,1158,0,2565,210,522,1683,729,0,405,3936,1515,2829,2106,1962,1515,894,0,0,996,0,0,1326,0,1191,2130,1347,1197,813,1089,2517,2427,2220,4098,0,1587,0,288,909,2703,1812,630,0,2664,1941,573,4548,1290,1857,2400,1368,0,2574,1737,0,9429,837,4344,1989,1827,1074,0,0,1389,0,1839,498,1140,2298,585,1008,0,0,0,0,0,912,0,411,1245,0,3927,2979,2061,0,4527,2496,0,2673,1344,3030,384,0,360,0,288,384,654,4188,2082,0,1668,1263,654,0,3480,0,1566,0,0,2445,0,1938,0,4011,1362,0,2103,2274,1092,1959,1047,1395,1593,1593,1593,1593,1662,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,0,1593,0;Overlapped_CDS_percent=.,92,100,0,100,100,0,0,100,100,83,0,100,100,100,100,100,0,100,100,100,100,100,100,100,100,0,0,100,0,0,100,0,100,100,100,100,100,100,100,100,100,100,0,100,0,100,100,100,100,100,0,100,100,100,100,100,100,100,100,0,100,100,0,100,100,100,100,100,100,0,0,72,0,100,100,100,100,100,100,0,0,0,0,0,100,0,100,100,0,100,100,100,0,100,100,0,100,100,100,96,0,19,0,100,61,44,100,100,0,96,100,100,0,100,0,96,0,0,100,0,100,0,100,100,0,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,0,100,0;Frameshift=.,yes,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,8,6,2,4,4,1,3,3,13,1,3,22,4,9,10,12,3,4,28,11,23,3,14,7,10,3,4,8,4,6,9,2,9,14,2,5,8,4,16,18,14,22,1,11,1,4,3,26,6,6,1,13,16,8,21,6,13,16,13,4,18,16,3,67,3,18,15,10,8,3,3,1,4,6,5,10,8,6,11,4,6,1,3,4,2,3,4,12,4,22,21,14,1,12,21,4,8,9,19,3,2,1,3,2,2,1,9,14,4,1,2,4,2,27,1,1,1,2,18,1,21,1,18,9,4,18,11,3,11,2,7,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1;Location=.,intron2-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,CDS-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR;Dist_nearest_SS=.,12103,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;Nearest_SS_type=.,5',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;Intersect_start=.,71552,124382,206388,264463,331602,343945,419223,433776,492998,567668,570956,619361,666224,668330,675617,699620,754230,778744,843064,926247,952674,981444,980831,1005413,1065265,1107426,1108984,1160719,1189570,1203907,1205232,1243227,1283678,1340995,1396719,1641613,1694457,1717678,1723247,1795019,1813205,1873119,1976362,1984449,1988110,2043721,2061053,2073644,2230075,2249158,2251803,2271323,2420681,2470832,2538373,2743374,2819896,2845570,2932293,2937272,2939662,2965297,3064972,3076407,3250885,3287617,3443694,3465032,3505338,3578595,3675319,3768111,3943486,4190452,4237268,4269427,4291977,4388828,4420694,4477847,4543857,4666052,4763486,4846163,4861391,4922534,5016312,5053206,5526295,5564165,5712927,5822490,5925001,5958836,6027925,6202459,6271576,6322307,6576915,6642411,6672454,6675801,6689174,6695604,6709427,6717900,6784453,6911192,7032280,7042575,7045098,7060621,7099150,7194264,7312176,7432011,7461754,7755816,7760440,7940727,7967053,8007027,8201016,8271480,8321902,8368008,8442503,8582118,8594491,8868773,9172134,9212382,9217130,9221877,9226621,9236110,9245604,9250355,9255103,9259849,9264597,9269344,9326890,9331636,9336383,9341128,9345873,9350618,9355363,9360107,9364854,9369599;Intersect_end=.,88096,157952,249774,299263,378657,344041,467998,492945,533989,570084,578655,664571,668065,675817,682940,763877,775637,819917,926104,952444,967357,987192,998352,1020686,1107352,1126763,1116952,1202632,1202750,1212379,1242918,1246795,1333925,1381837,1400230,1686040,1714046,1723050,1746898,1810594,1857883,1983919,1976487,2010701,1988204,2045691,2070816,2243848,2243848,2263836,2251883,2420372,2464729,2517584,2734300,2758063,2842823,2931789,2936552,2952805,2965133,3042487,3076241,3245687,3258340,3441640,3451213,3503209,3534149,3592712,3679582,3770253,3957155,4228656,4249950,4291881,4323510,4420785,4543775,4483427,4712665,4666150,4789101,4852554,4865663,4990398,5021185,5502716,5529528,5710286,5816032,5894813,5925055,6020273,6202276,6235663,6304992,6474341,6625089,6644456,6675608,6677774,6692246,6698897,6711592,6719391,6885891,7034841,7047958,7044728,7059679,7069791,7105103,7744554,7312251,7436657,7461845,7780655,7941588,7942023,8160540,8007108,8242830,8308825,8325692,8442450,8478282,8591750,8621479,8873565,9178456,9213975,9218723,9223470,9228214,9237772,9247197,9251948,9256696,9261442,9266190,9270937,9328483,9333229,9337976,9342721,9347466,9352211,9356956,9361700,9366447,9370796;RE_gene=ACTC1_(morbid/RE=mTL_miRNA)|ACVR1_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AKT1_(morbid/RE=mTL_miRNA)|ANTXR2_(morbid/RE=mTL_miRNA)|ARF1_(morbid/RE=mTL_miRNA)|ARHGDIA_(morbid/RE=mTL_miRNA)|ARPC1B_(morbid/RE=mTL_miRNA)|ATXN2_(morbid/RE=mTL_miRNA)|CAD_(morbid/RE=mTL_miRNA)|CALM2_(morbid/RE=mTL_miRNA)|CASK_(morbid/RE=mTL_miRNA)|CCNF_(morbid/RE=mTL_miRNA)|CELF2_(morbid/RE=mTL_miRNA)|CEP55_(morbid/RE=mTL_miRNA)|CIITA_(morbid/RE=mTL_miRNA)|CNTNAP2_(morbid/RE=mTL_miRNA)|COL18A1_(morbid/RE=mTL_miRNA)|COL1A1_(HI=3/morbid/RE=mTL_miRNA)|CREBBP_(HI=3/morbid/RE=mTL_miRNA)|CTCF_(HI=3/morbid/RE=mTL_miRNA)|DAAM2_(morbid/RE=mTL_miRNA)|DDR2_(morbid/RE=mTL_miRNA)|DDX3X_(HI=3/morbid/RE=mTL_miRNA)|EDEM3_(morbid/RE=mTL_miRNA)|EGLN1_(morbid/RE=mTL_miRNA)|ELOVL5_(morbid/RE=mTL_miRNA)|ESCO2_(morbid/RE=mTL_miRNA)|FLCN_(HI=3/morbid/RE=mTL_miRNA)|FLVCR1_(morbid/RE=mTL_miRNA)|FOXC1_(HI=3/morbid/RE=mTL_miRNA)|FOXP2_(morbid/RE=mTL_miRNA)|G6PD_(morbid/RE=mTL_miRNA)|GABRB2_(morbid/RE=mTL_miRNA)|GATA6_(HI=3/morbid/RE=mTL_miRNA)|GLI2_(HI=3/morbid/RE=mTL_miRNA)|GLUL_(morbid/RE=mTL_miRNA)|GNAS_(HI=3/morbid/RE=mTL_miRNA)|HERC2_(morbid/RE=mTL_miRNA)|HFE_(morbid/RE=mTL_miRNA)|IGF1R_(HI=3/morbid/RE=mTL_miRNA)|INF2_(morbid/RE=mTL_miRNA)|ITM2B_(morbid/RE=mTL_miRNA)|KCNJ6_(morbid/RE=mTL_miRNA)|LAMA4_(morbid/RE=mTL_miRNA)|LMNB2_(morbid/RE=mTL_miRNA)|LRP6_(morbid/RE=mTL_miRNA)|MED13_(morbid/RE=mTL_miRNA)|MEN1_(HI=3/morbid/RE=mTL_miRNA)|MMADHC_(morbid/RE=mTL_miRNA)...;P_gain_phen=Retinitis_pigmentosa|Retinitis_pigmentosa_40,.,.,.,.,.,.,.,.,.,.,.,Retinitis_pigmentosa|Retinitis_pigmentosa_40,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_hpo=HP:0000547,.,.,.,.,.,.,.,.,.,.,.,HP:0000547,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_source=CLN:801370|dbVar:nssv15124412|dbVar:nssv15130095|dbVar:nssv15132150|dbVar:nssv15132411|dbVar:nssv15132589|dbVar:nssv15133497|dbVar:nssv15153559|dbVar:nssv15161020|dbVar:nssv16255833|dbVar:nssv16867404|dbVar:nssv17172169|dbVar:nssv17973849|dbVar:nssv18330201,.,.,.,.,.,.,.,.,.,.,.,CLN:801370|dbVar:nssv15161020,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar:nssv17973849,dbVar:nssv17172169,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_coord=4:127234-8667610|4:1420949-1836794|4:1737489-1808653|4:1770487-2303110|4:374558-745174|4:5567009-5587839|4:5785270-5803831|4:614356-2959936|4:619584-619584|4:619590-619662|4:72448-3848881|4:72448-5608810|4:85041-4597934|4:963689-2913553,.,.,.,.,.,.,.,.,.,.,.,4:619584-619584|4:619590-619662,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:5567009-5587839,4:5785270-5803831,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_phen=4p16.3_terminal_(Wolf-Hirschhorn_syndrome)_region|?Cataract_41,_116400_(3)_AD|Deafness,_AD_6|14|38,_600965_(3)_AD|Wolfram_syndrome_1,_222300_(3)_AR|Wolfram-like_syndrome,_AD,_614296_(3)_AD|Diabetes_mellitus,_noninsulin-dependent,_association_with,_125853_(3)_AD|?Spermatogenic_failure_62,_619673_(3)_AR|Recombination_rate_QTL_1,_612042_(3)|?Weyers_acrofacial_dysostosis,_193530_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR|Achondroplasia,_100800_(3)_AD|Bladder_cancer,_somatic,_109800_(3)|CATSHL_syndrome,_610474_(3)_AR,AD|Cervical_cancer,_somatic,_603956_(3)|Colorectal_cancer,_somatic,_114500_(3)|Crouzon_syndrome_with_acanthosis_nigricans,_612247_(3)_AD|Hypochondroplasia,_146000_(3)_AD|LADD_syndrome_2,_620192_(3)_AD|Muenke_syndrome,_602849_(3)_AD|Nevus,_epidermal,_somatic,_162900_(3)|SADDAN,_616482_(3)_AD|Spermatocytic_seminoma,_somatic,_273300_(3)|Thanatophoric_dysplasia,_type_I,_187600_(3)_AD|Thanatophoric_dysplasia,_type_II,_187601_(3)_AD|Cherubism,_118400_(3)_AD|Curry-Hall_syndrome|Ellis-van_Creveld_syndrome|Developmental_and_epileptic_encephalopathy_63,_617976_(3)_AR|Ectodermal_dysplasia_3,_Witkop_type,_189500_(3)_AD|Orofacial_cleft_5,_608874_(3)_AD|Tooth_agenesis,_selective,_1,_with_or_without_orofacial_cleft,_106600_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR|Weyers_acrofacial_dysostosis,_193530_(3)_AD|Fetal_akinesia_deformation_sequence_3,_618389_(3)_AR|Myasthenic_syndrome,_congenital,_10,_254300_(3)_AR|Huntington_disease,_143100_(3)_AD|Lopes-Maciel-Rodan_syndrome,_617435_(3)_AR|Hurler_syndrome|Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome,_617915_(3)_AD|Mucopolysaccharidosis_Ih,_607014_(3)_AR|Mucopolysaccharidosis_Ih|s,_607015_(3)_AR|Mucopolysaccharidosis_Is,_607016_(3)_AR|Mucopolysaccharidosis_type_1|Myopia_23,_AR,_615431_(3)_AR|Neurodegeneration,_childhood-onset,_with_multisystem_involvement_due_to_mitochondrial_dysfunction,_620089_(3)_AR|Neurodevelopmental_disorder_with_or_without_hypotonia,_seizures,_and_cerebellar_atrophy,_616917_(3)_AR|Blood_group,_EMM_system,_619812_(3)_AR|Night_blindness,_congenital_stationary,_AD_2,_163500_(3)_AD|Retinitis_pigmentosa-40,_613801_(3)_AR|Oculoauricular_syndrome,_612109_(3)_AR|Rauch-Steindl_syndrome,_619695_(3)_AD|UV-sensitive_syndrome_3,_614640_(3)_AR,.,.,.,.,.,.,.,.,Neurodevelopmental_disorder_with_or_without_hypotonia,_seizures,_and_cerebellar_atrophy,_616917_(3)_AR|Blood_group,_EMM_system,_619812_(3)_AR,.,.,Night_blindness,_congenital_stationary,_AD_2,_163500_(3)_AD|Retinitis_pigmentosa-40,_613801_(3)_AR,.,.,.,.,.,Developmental_and_epileptic_encephalopathy_63,_617976_(3)_AR,.,.,.,.,Hurler_syndrome|Mucopolysaccharidosis_Ih,_607014_(3)_AR|Mucopolysaccharidosis_Ih|s,_607015_(3)_AR|Mucopolysaccharidosis_Is,_607016_(3)_AR|Mucopolysaccharidosis_type_1,.,?Spermatogenic_failure_62,_619673_(3)_AR|Recombination_rate_QTL_1,_612042_(3),.,.,.,.,.,.,.,.,UV-sensitive_syndrome_3,_614640_(3)_AR,.,.,.,.,.,Achondroplasia,_100800_(3)_AD|Bladder_cancer,_somatic,_109800_(3)|CATSHL_syndrome,_610474_(3)_AR,AD|Cervical_cancer,_somatic,_603956_(3)|Colorectal_cancer,_somatic,_114500_(3)|Crouzon_syndrome_with_acanthosis_nigricans,_612247_(3)_AD|Hypochondroplasia,_146000_(3)_AD|LADD_syndrome_2,_620192_(3)_AD|Muenke_syndrome,_602849_(3)_AD|Nevus,_epidermal,_somatic,_162900_(3)|SADDAN,_616482_(3)_AD|Spermatocytic_seminoma,_somatic,_273300_(3)|Thanatophoric_dysplasia,_type_I,_187600_(3)_AD|Thanatophoric_dysplasia,_type_II,_187601_(3)_AD,Neurodegeneration,_childhood-onset,_with_multisystem_involvement_due_to_mitochondrial_dysfunction,_620089_(3)_AR,Rauch-Steindl_syndrome,_619695_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Cherubism,_118400_(3)_AD,.,.,.,.,.,.,Huntington_disease,_143100_(3)_AD|Lopes-Maciel-Rodan_syndrome,_617435_(3)_AR,.,.,.,Fetal_akinesia_deformation_sequence_3,_618389_(3)_AR|Myasthenic_syndrome,_congenital,_10,_254300_(3)_AR,Myopia_23,_AR,_615431_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Ectodermal_dysplasia_3,_Witkop_type,_189500_(3)_AD|Orofacial_cleft_5,_608874_(3)_AD|Tooth_agenesis,_selective,_1,_with_or_without_orofacial_cleft,_106600_(3)_AD,.,.,.,.,.,?Weyers_acrofacial_dysostosis,_193530_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR|Curry-Hall_syndrome|Ellis-van_Creveld_syndrome,.,.,.,.,.,?Cataract_41,_116400_(3)_AD|Deafness,_AD_6|14|38,_600965_(3)_AD|Wolfram_syndrome_1,_222300_(3)_AR|Wolfram-like_syndrome,_AD,_614296_(3)_AD|Diabetes_mellitus,_noninsulin-dependent,_association_with,_125853_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Oculoauricular_syndrome,_612109_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_hpo=HP:0000943,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,HP:0000943,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_source=CLN:1313135|CLN:2672009|CLN:961843|HI3:ISCA-37429|HI3:MSX1|HI3:NSD2|dbVar:nssv15119851|dbVar:nssv15121023|dbVar:nssv15121032|dbVar:nssv15121033|dbVar:nssv15121034|dbVar:nssv15121217|dbVar:nssv15121218|dbVar:nssv15121687|dbVar:nssv15122678|dbVar:nssv15123516|dbVar:nssv15124520|dbVar:nssv15127349|dbVar:nssv15130945|dbVar:nssv15131476|dbVar:nssv15131910|dbVar:nssv15132407|dbVar:nssv15132408|dbVar:nssv15132580|nssv15140019|dbVar:nssv15132953|dbVar:nssv15133489|dbVar:nssv15133490|dbVar:nssv15133634|dbVar:nssv15134794|dbVar:nssv15134826|dbVar:nssv15135086|dbVar:nssv15135107|dbVar:nssv15138367|dbVar:nssv15138802|dbVar:nssv15138941|dbVar:nssv15139309|dbVar:nssv15144315|dbVar:nssv15147286|dbVar:nssv15153560|dbVar:nssv15153562|dbVar:nssv15605891|dbVar:nssv15606061|dbVar:nssv15770186|dbVar:nssv15770321|dbVar:nssv16211870|dbVar:nssv16212102|dbVar:nssv16213046|dbVar:nssv16213271|dbVar:nssv16213451|dbVar:nssv16213572|dbVar:nssv16213637|dbVar:nssv16213802|dbVar:nssv16214176|dbVar:nssv16214333|dbVar:nssv16216714|dbVar:nssv16252200|dbVar:nssv16253953|dbVar:nssv16254938|dbVar:nssv16297119|dbVar:nssv16297131|dbVar:nssv16867405|dbVar:nssv17171362|dbVar:nssv17171376|dbVar:nssv17171391|dbVar:nssv17171923|dbVar:nssv17172168|dbVar:nssv17172572|dbVar:nssv17172573|dbVar:nssv17172574|dbVar:nssv17172955|dbVar:nssv17173143|dbVar:nssv17173159|dbVar:nssv17683620|dbVar:nssv17970729|dbVar:nssv17970732|dbVar:nssv17971217|dbVar:nssv17971266|dbVar:nssv17971361|dbVar:nssv17971686|dbVar:nssv17971734|dbVar:nssv17971799|dbVar:nssv17971904|dbVar:nssv17972056|dbVar:nssv17972166|dbVar:nssv17972432|dbVar:nssv17973718|nssv17974037|dbVar:nssv17973748|dbVar:nssv17974578|dbVar:nssv17975024|dbVar:nssv17976233|dbVar:nssv17976464|dbVar:nssv17976477|dbVar:nssv17976550|dbVar:nssv18326580|dbVar:nssv18786244|dbVar:nssv18786333|dbVar:nssv18787193|dbVar:nssv18788241|dbVar:nssv18788242|dbVar:nssv18788927|dbVar:nssv18788928|dbVar:nssv18790018|dbVar:nssv18790019|dbVar:nssv18790020|dbVar:nssv18790021|dbVar:nssv18790022|dbVar:nssv18790117|dbVar:nssv18790118|dbVar:nssv18790119|dbVar:nssv18790120|dbVar:nssv18790121|dbVar:nssv18790180|dbVar:nssv18790633|dbVar:nssv18791534|dbVar:nssv18791535|dbVar:nssv18791536|dbVar:nssv18791537|dbVar:nssv18791538|dbVar:nssv18791542|dbVar:nssv18830727|morbid:CPLX1|morbid:CTBP1|morbid:DOK7|morbid:EVC|morbid:EVC2|morbid:FGFR3|morbid:HMX1|morbid:HTRA3|morbid:HTT|morbid:IDUA|morbid:LETM1|morbid:LRPAP1|morbid:MSX1|morbid:NSD2|morbid:PDE6B|morbid:PIGG|morbid:RNF212|morbid:SH3BP2|morbid:UVSSA|morbid:WFS1,.,.,.,.,.,.,.,.,dbVar:nssv17683620|dbVar:nssv17974578|dbVar:nssv17976464|dbVar:nssv17976477|dbVar:nssv18791534|dbVar:nssv18791536|dbVar:nssv18791537|dbVar:nssv18791538|morbid:PIGG,.,.,dbVar:nssv16213572|dbVar:nssv16213637|dbVar:nssv17171376|dbVar:nssv17171923|dbVar:nssv18788927|dbVar:nssv18788928|morbid:PDE6B,.,.,.,.,.,morbid:CPLX1,.,.,.,.,CLN:2672009|CLN:961843|dbVar:nssv16216714|dbVar:nssv18830727|morbid:IDUA,.,morbid:RNF212,.,.,.,.,.,.,.,.,morbid:UVSSA,.,.,.,.,.,morbid:FGFR3,morbid:LETM1,morbid:NSD2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,morbid:SH3BP2,.,.,.,.,.,.,morbid:HTT,.,.,.,dbVar:nssv15130945|dbVar:nssv15131476|dbVar:nssv15770186|dbVar:nssv16213451|dbVar:nssv16214333|dbVar:nssv17971686|dbVar:nssv17972166|dbVar:nssv17976550|dbVar:nssv18786333|dbVar:nssv18790180|morbid:DOK7,morbid:LRPAP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,HI3:MSX1|morbid:MSX1,.,.,.,.,dbVar:nssv15770321|dbVar:nssv16213046|dbVar:nssv16213271|dbVar:nssv16297119|dbVar:nssv17172955|dbVar:nssv17971266|dbVar:nssv17971361|dbVar:nssv17972056|dbVar:nssv18790018|dbVar:nssv18790020|dbVar:nssv18790021|dbVar:nssv18790022,CLN:1313135|dbVar:nssv15144315|dbVar:nssv16211870|dbVar:nssv16297131|dbVar:nssv17172168|dbVar:nssv17172572|dbVar:nssv17172573|dbVar:nssv17172574|dbVar:nssv17971734|dbVar:nssv17973718|nssv17974037|dbVar:nssv17975024|dbVar:nssv18786244|dbVar:nssv18790117|dbVar:nssv18790118|dbVar:nssv18790119|dbVar:nssv18790120|morbid:EVC,.,.,.,.,.,dbVar:nssv18790633|morbid:WFS1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,morbid:HTRA3,.,.,.,.,.,morbid:HMX1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_coord=4:1087097-1107352|4:1190912-2255904|4:1205233-1244143|4:1228529-2862002|4:129754-9371067|4:1305803-2460571|4:1340996-1381837|4:1619776-2181192|4:1701019-1975031|4:1784695-1919793|4:1795020-1810594|4:1813206-1857883|4:1827029-1860753|4:1873124-1983934|4:1902353-1950545|4:1941634-3879802|4:1966267-5913899|4:2009467-3080412|4:2200252-5710240|4:2364202-5447465|4:2820541-2842823|4:2909441-6871516|4:3076408-3245687|4:3085428-7591673|4:331569-2010962|4:3465094-3495238|4:3465104-3465298|4:3475114-3491543|4:3478271-3491403|4:3486271-3496209|4:3487104-3487370|4:3487247-3495248|4:3487257-3487395|4:3487257-3495238|4:3494467-3495228|4:3495083-3495158|4:3505339-3534149|4:3776785-7361544|4:388345-3872380|4:4859066-4864603|4:4861392-4865663|4:4861393-4865663|4:4861628-6304195|4:492999-533989|4:493126-2065854|4:493126-663896|4:493126-998181|4:493969-499930|4:494166-494410|4:499508-502759|4:501175-533158|4:502599-509994|4:507006-2214932|4:509743-533158|4:512203-518547|4:520809-1020391|4:524206-527790|4:5563147-5711294|4:5564166-5711275|4:5564566-5578191|4:5564566-5586587|4:5564566-5759862|4:5564576-5567096|4:5565511-5811251|4:5570162-5570377|4:5576403-5576509|4:5617140-5812774|4:5630277-5633769|4:5630336-5635926|4:5630338-5635927|4:5636440-5710337|4:5642222-5642585|4:5682978-5735172|4:5690875-5691080|4:5690875-5696238|4:5696053-5696238|4:5710004-5750043|4:5711925-5817031|4:5712928-5816032|4:5713109-5714221|4:5713159-5713318|4:5731025-5759862|4:5733143-5735172|4:5749726-5755670|4:5754554-5755670|4:5754554-5758099|4:5754554-5785501|4:5754599-5758602|4:5785270-5812774|4:5795340-5795484|4:5795341-5795483|4:5798730-5798979|4:5798740-5798969|4:5803668-5806578|4:5809919-5811348|4:619417-619883|4:6271577-6304992|4:6279184-6279434|4:629670-670728|4:646966-664571|4:647642-648677|4:651220-652826|4:652722-656427|4:652742-656407|4:660321-661795|4:664193-671649|4:72448-2110334|4:72448-2327204|4:72448-2691306|4:72448-3208040|4:72448-3563382|4:72448-3725774|4:72448-3787112|4:72448-4360445|4:72448-4889835|4:72448-5036718|4:72448-5214111|4:72448-5346537|4:72448-6245152|4:72448-7831152|4:75743-8672411|4:778745-819917|4:78471-3364946|4:8271481-8308825|4:85041-1921232|4:85041-2010262|4:85041-4407509|4:85041-7065426|4:85041-7845343|4:8613755-8873340|4:8868774-8873565|4:980776-981040|4:980776-981747|4:990308-992083|4:990309-992082|4:993498-998345|4:994391-998355|4:996510-998192|4:996511-998191|4:996511-998355,.,.,.,.,.,.,.,.,4:492999-533989|4:493969-499930|4:494166-494410|4:499508-502759|4:501175-533158|4:502599-509994|4:509743-533158|4:512203-518547|4:524206-527790,.,.,4:619417-619883|4:646966-664571|4:647642-648677|4:651220-652826|4:652722-656427|4:652742-656407|4:660321-661795,.,.,.,.,.,4:778745-819917,.,.,.,.,4:990308-992083|4:990309-992082|4:993498-998345|4:996510-998192|4:996511-998191,.,4:1087097-1107352,.,.,.,.,.,.,.,.,4:1340996-1381837,.,.,.,.,.,4:1795020-1810594,4:1813206-1857883,4:1902353-1950545,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:2820541-2842823,.,.,.,.,.,.,4:3076408-3245687,.,.,.,4:3465094-3495238|4:3465104-3465298|4:3475114-3491543|4:3478271-3491403|4:3486271-3496209|4:3487104-3487370|4:3487247-3495248|4:3487257-3487395|4:3487257-3495238|4:3494467-3495228|4:3495083-3495158,4:3505339-3534149,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:4861392-4865663|4:4861393-4865663,.,.,.,.,4:5564566-5578191|4:5564566-5586587|4:5564576-5567096|4:5570162-5570377|4:5576403-5576509|4:5630277-5633769|4:5630336-5635926|4:5630338-5635927|4:5642222-5642585|4:5690875-5691080|4:5690875-5696238|4:5696053-5696238,4:5712928-5816032|4:5713109-5714221|4:5713159-5713318|4:5731025-5759862|4:5733143-5735172|4:5749726-5755670|4:5754554-5755670|4:5754554-5758099|4:5754554-5785501|4:5754599-5758602|4:5785270-5812774|4:5795340-5795484|4:5795341-5795483|4:5798730-5798979|4:5798740-5798969|4:5803668-5806578|4:5809919-5811348,.,.,.,.,.,4:6271577-6304992|4:6279184-6279434,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:8271481-8308825,.,.,.,.,.,4:8868774-8873565,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;po_P_gain_source=dbVar:nssv15165478|dbVar:nssv15148693|dbVar:nssv15149137|dbVar:nssv15125120|dbVar:nssv15134956|dbVar:nssv15136789|dbVar:nssv15148117|dbVar:nssv15165480|dbVar:nssv15164282|dbVar:nssv15164281|dbVar:nssv16215300|dbVar:nssv15145847|dbVar:nssv15132087|dbVar:nssv15132302|dbVar:nssv16254944|dbVar:nssv16207938|dbVar:nssv18830986|dbVar:nssv15150724|dbVar:nssv15777261|dbVar:nssv15151365|nssv18326348|dbVar:nssv15150634|dbVar:nssv15142189|dbVar:nssv15149870|nssv15151360|dbVar:nssv17649922|dbVar:nssv15147407|dbVar:nssv15146379|dbVar:nssv15146614|dbVar:nssv15148043|dbVar:nssv15146983|dbVar:nssv15146984|dbVar:nssv17976755|dbVar:nssv18841857|dbVar:nssv18841859|dbVar:nssv15164312|dbVar:nssv18841858|dbVar:nssv15149115;po_P_gain_coord=4:11526-191028879|4:12441-190904441|4:12441-49064044|4:33575-6632513|4:36425-1583294|4:36425-4098729|4:36425-47493612|4:49451-190915650|4:49451-190963766|4:49451-46339070|4:49451-49620898|4:51414-17799819|4:51414-3776843|4:51414-8224525|4:68346-2503033|4:68346-27423424|4:68346-34512694|4:68346-3713599|4:68346-4051616|4:68346-49089361|4:68346-66440622|4:68346-8731855|4:68347-190957473|4:69672-29702595|4:72448-21024037|4:72448-33132242|4:72448-39478764|4:78471-15627196|4:85041-22451641|4:85041-38701987|4:114785-47569569|4:507006-49064194|4:507006-57939396|4:1356925-49659859|4:2906395-42965249|4:6447049-20490737;po_P_gain_percent=4.87|4.87|18.96|99.42|97.73|99.14|19.60|4.87|4.87|20.09|18.76|52.40|99.46|99.75|99.87|34.00|27.00|99.91|99.92|18.97|14.01|99.96|4.87|31.38|44.38|28.13|23.60|59.76|41.52|24.05|19.51|18.25|15.43|16.59|16.14|20.82;po_P_loss_source=dbVar:nssv18330206|dbVar:nssv16254942|dbVar:nssv15140532|dbVar:nssv15129769|dbVar:nssv15124924|dbVar:nssv15139152|dbVar:nssv15136460|dbVar:nssv15138769|dbVar:nssv15136794|dbVar:nssv15139111|dbVar:nssv15145893|dbVar:nssv15145934|dbVar:nssv15134095|dbVar:nssv15147322|dbVar:nssv8639431|dbVar:nssv15164280|dbVar:nssv16208663|dbVar:nssv15123439|dbVar:nssv15135098|dbVar:nssv15146364|dbVar:nssv15121022|dbVar:nssv15119845|dbVar:nssv16207942|dbVar:nssv15151269|dbVar:nssv15149902|dbVar:nssv15146789|dbVar:nssv17976873|dbVar:nssv15151109|dbVar:nssv17957198|dbVar:nssv15137532|dbVar:nssv15148266|dbVar:nssv17956854|dbVar:nssv17976719|dbVar:nssv16254943|dbVar:nssv16207937|dbVar:nssv15152168|dbVar:nssv15141218|dbVar:nssv16254952|dbVar:nssv15150277|dbVar:nssv17976824|dbVar:nssv16254953|dbVar:nssv15139308|dbVar:nssv16207941|dbVar:nssv15138820|nssv16207940|dbVar:nssv16207939|dbVar:nssv18330137|dbVar:nssv18330792|dbVar:nssv17649921|dbVar:nssv15150501|dbVar:nssv15146961|dbVar:nssv15146716|dbVar:nssv15147405|dbVar:nssv15146665|dbVar:nssv15146669|dbVar:nssv15146272|dbVar:nssv15146661|dbVar:nssv15146276|dbVar:nssv15774427|dbVar:nssv15151369|dbVar:nssv15145981|dbVar:nssv16207944;po_P_loss_coord=4:2-12785001|4:2-1328868|4:29215-1925508|4:33575-2356516|4:33575-4534781|4:36425-1957819|4:36425-3267258|4:36425-3883057|4:36425-3975771|4:36425-7361544|4:36425-9371067|4:37337-15870679|4:37337-3776839|4:37337-9370984|4:44021-19796182|4:49451-2010397|4:49451-24280482|4:49451-8872474|4:51414-1399150|4:56773-14501384|4:56773-2214932|4:56773-3872380|4:68346-10312798|4:68346-10336032|4:68346-13770107|4:68346-14614077|4:68346-1512353|4:68346-15973383|4:68346-1675143|4:68346-1999185|4:68346-20387231|4:68346-20587167|4:68346-20964575|4:68346-2137211|4:68346-2786584|4:68346-3891984|4:68346-4044985|4:68346-5046326|4:68346-5319773|4:68346-5579467|4:68346-5831521|4:68346-6056753|4:68346-6984507|4:68346-8731855|4:68346-9768141|4:68347-12369983|4:68347-2437290|4:68599-18912995|4:71553-15302739|4:71553-29006745|4:72448-10252290|4:72448-12900236|4:72448-15659658|4:72448-17279636|4:72448-28067931|4:78471-10337237|4:85041-17488365|4:3374196-13468480|4:4165335-33324781|4:4428131-17462172|4:5914110-17264668;po_P_loss_percent=72.74|94.62|97.77|98.37|99.16|98.17|98.91|99.09|99.11|99.52|99.62|58.73|99.09|99.63|47.08|98.87|38.38|99.75|98.51|64.38|99.32|99.61|90.78|90.57|67.87|63.93|99.78|58.47|99.80|99.83|45.77|45.32|44.50|99.84|99.88|99.92|99.92|99.94|99.94|99.94|99.94|99.95|99.95|99.96|95.87|75.60|99.86|49.35|61.06|32.14|91.34|72.49|59.66|54.04|33.21|90.58|53.36|59.41|17.85|37.92|30.46;P_snvindel_nb=809,.,.,.,.,.,.,.,.,48,.,.,71,.,.,.,.,.,1,.,.,.,19,190,.,.,.,.,.,.,1,1,.,.,1,.,.,.,.,.,36,.,27,.,.,.,.,.,.,.,.,.,.,.,.,.,.,7,.,.,.,.,.,.,3,.,.,.,44,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,6,.,.,.,.,142,115,.,.,.,1,.,114,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_snvindel_phen=4p_partial_monosomy_syndrome|Abnormality_of_mucopolysaccharide_metabolism|Abnormality_of_the_cervical_spine|Abnormality_of_the_diaphragm|Abnormality_of_the_musculature|Abnormality_of_the_nervous_system|Abnormality_of_the_vertebral_column|Acanthosis_nigricans|Achondroplasia|Arachnodactyly|Autosomal_dominant_nonsyndromic_hearing_loss_6|Autosomal_recessive_retinitis_pigmentosa|Bell-shaped_thorax|Bowed_humerus|Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome|Carcinoma|Carcinoma_of_colon|Cataract_41|Cerebellar_vermis_hypoplasia|Cervical_cancer|Cleft_palate|Colorectal_cancer|Cone-rod_dystrophy|Congenital_Stationary_Night_Blindness,_Dominant|Congenital_laryngomalacia|Congenital_myasthenic_syndrome|Congenital_myasthenic_syndrome_10|Congenital_stationary_night_blindness_autosomal_dominant_2|Connective_tissue_disorder|Coronal_craniosynostosis|Craniosynostosis_syndrome|Crouzon_syndrome|Crouzon_syndrome-acanthosis_nigricans_syndrome|Curry-Hall_syndrome|DOK7-related_condition|Dandy-Walker_syndrome|Developmental_and_epileptic_encephalopathy,_63|Diabetes_mellitus|Diaphragmatic_eventration|Disproportionate_short-limb_short_stature|Duane_retraction_syndrome|EVC-related_condition|EVC2-related_condition|Ellis-van_Creveld_syndrome|Emm-null_phenotype|Epidermal_nevus|FGFR3-Related_Disorders|FGFR3-related_chondrodysplasia|FGFR3-related_condition|FGFR3-related_disorder|Facial_asymmetry|Feeding_difficulties|Femoral_bowing|Fetal_akinesia_deformation_sequence_1|Fetal_akinesia_deformation_sequence_3|Fibrous_dysplasia_of_jaw|Generalized_non-motor_(absence)_seizure|Germ_cell_tumor_of_testis|Global_developmental_delay|Growth_delay|Hamartoma|Hurler_syndrome|Hydronephrosis|Hydroureter|Hypochondroplasia|Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome|Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome|IDUA-related_condition|Inborn_genetic_diseases|Infantile_axial_hypotonia|Intellectual_disability,_autosomal_recessive_53|Interstitial_pneumonitis|Isolated_microphthalmia_6|Jeune_thoracic_dystrophy|Larsen_syndrome|Leber_congenital_amaurosis|Lethal_short-limbed_short_stature|Levy-Hollister_syndrome|Lower_limb_undergrowth|Lung_adenocarcinoma|MSX1-related_condition|Malignant_tumor_of_testis|Malignant_tumor_of_urinary_bladder|Microglossia|Micrognathia|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis,_MPS-IV-A|Mucopolysaccharidosis_type_1|Mucopolysacchariduria|Muenke_syndrome|Multiple_myeloma|Myopia_23,_autosomal_recessive|NSD2_related_disorders|Narrow_chest|Neurodevelopmental_delay|Night_blindness|Nonsyndromic_genetic_hearing_loss|PDE6B-Related_Disorders|PDE6B-related_condition|PDE6B-related_disorder|PIGG-related_condition|Papillary_renal_cell_carcinoma,_sporadic|Rare_genetic_deafness|Rauch-Steindl_syndrome|Retinal_dystrophy|Retinitis_pigmentosa|Retinitis_pigmentosa_40|Rett_syndrome|Rod-cone_dystrophy|SEVERE_ACHONDRODYSPLASIA_WITH_DEVELOPMENTAL_DELAY_AND_ACANTHOSIS_NIGRICANS|Saethre-Chotzen_syndrome|Seborrheic_keratosis|See_cases|Seizure|Sensorineural_hearing_loss_disorder|Severe_achondroplasia-developmental_delay-acanthosis_nigricans_syndrome|Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly|Short_ribs|Short_stature|Skeletal_dysplasia|Skeletal_dysplasia_with_acanthosis_nigricans|Small_for_gestational_age|Small_hand|Smith-Magenis_Syndrome-like|Spermatocytic_seminoma|Squamous_cell_carcinoma_of_the_head_and_neck|Squamous_cell_lung_carcinoma|Syndromic_intellectual_disability|Thanatophoric_dysplasia|Thanatophoric_dysplasia,_type_2|Thanatophoric_dysplasia_type_1|Transitional_cell_carcinoma_of_the_bladder|Type_2_diabetes_mellitus|Type_IV_short_rib_polydactyly_syndrome|Tyrosinase-positive_oculocutaneous_albinism|Unilateral_renal_agenesis|Upper_limb_undergrowth|Urinary_bladder_carcinoma|WFS1-Related_Spectrum_Disorders|WFS1-related_condition|WFS1-related_disorder|Wolf-Hirschhorn_like_syndrome|Wolfram-like_syndrome|Wolfram_syndrome|Wolfram_syndrome_1|not_specified,.,.,.,.,.,.,.,.,Emm-null_phenotype|Inborn_genetic_diseases|Intellectual_disability,_autosomal_recessive_53|PIGG-related_condition,.,.,Autosomal_recessive_retinitis_pigmentosa|Cone-rod_dystrophy|Congenital_Stationary_Night_Blindness,_Dominant|Congenital_stationary_night_blindness_autosomal_dominant_2|Leber_congenital_amaurosis|PDE6B-Related_Disorders|PDE6B-related_condition|PDE6B-related_disorder|Retinal_dystrophy|Retinitis_pigmentosa|Retinitis_pigmentosa_40|Rod-cone_dystrophy|Tyrosinase-positive_oculocutaneous_albinism,.,.,.,.,.,Developmental_and_epileptic_encephalopathy,_63,.,.,.,Abnormality_of_mucopolysaccharide_metabolism|Hurler_syndrome|IDUA-related_condition|Interstitial_pneumonitis|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis_type_1,Abnormality_of_mucopolysaccharide_metabolism|Hurler_syndrome|IDUA-related_condition|Inborn_genetic_diseases|Interstitial_pneumonitis|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis,_MPS-IV-A|Mucopolysaccharidosis_type_1|Mucopolysacchariduria|See_cases,.,.,.,.,.,.,Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome|Inborn_genetic_diseases,Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome|Inborn_genetic_diseases,.,.,.,.,.,.,.,.,Abnormality_of_the_nervous_system|Acanthosis_nigricans|Achondroplasia|Bell-shaped_thorax|Bowed_humerus|Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome|Carcinoma|Carcinoma_of_colon|Cervical_cancer|Colorectal_cancer|Connective_tissue_disorder|Coronal_craniosynostosis|Craniosynostosis_syndrome|Crouzon_syndrome|Crouzon_syndrome-acanthosis_nigricans_syndrome|Disproportionate_short-limb_short_stature|Epidermal_nevus|FGFR3-Related_Disorders|FGFR3-related_chondrodysplasia|FGFR3-related_condition|FGFR3-related_disorder|Facial_asymmetry|Femoral_bowing|Generalized_non-motor_(absence)_seizure|Germ_cell_tumor_of_testis|Growth_delay|Hamartoma|Hypochondroplasia|Inborn_genetic_diseases|Infantile_axial_hypotonia|Larsen_syndrome|Lethal_short-limbed_short_stature|Levy-Hollister_syndrome|Lower_limb_undergrowth|Lung_adenocarcinoma|Malignant_tumor_of_testis|Malignant_tumor_of_urinary_bladder|Muenke_syndrome|Multiple_myeloma|Narrow_chest|Neurodevelopmental_delay|Papillary_renal_cell_carcinoma,_sporadic|SEVERE_ACHONDRODYSPLASIA_WITH_DEVELOPMENTAL_DELAY_AND_ACANTHOSIS_NIGRICANS|Saethre-Chotzen_syndrome|Seborrheic_keratosis|See_cases|Seizure|Severe_achondroplasia-developmental_delay-acanthosis_nigricans_syndrome|Short_ribs|Short_stature|Skeletal_dysplasia|Skeletal_dysplasia_with_acanthosis_nigricans|Small_for_gestational_age|Spermatocytic_seminoma|Squamous_cell_carcinoma_of_the_head_and_neck|Squamous_cell_lung_carcinoma|Thanatophoric_dysplasia|Thanatophoric_dysplasia,_type_2|Thanatophoric_dysplasia_type_1|Transitional_cell_carcinoma_of_the_bladder|Unilateral_renal_agenesis|Upper_limb_undergrowth|Urinary_bladder_carcinoma|not_specified,.,4p_partial_monosomy_syndrome|Global_developmental_delay|Inborn_genetic_diseases|NSD2_related_disorders|Neurodevelopmental_delay|Rauch-Steindl_syndrome|Syndromic_intellectual_disability|Wolf-Hirschhorn_like_syndrome,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Fibrous_dysplasia_of_jaw,.,.,.,.,.,.,.,.,.,.,Abnormality_of_the_musculature|Congenital_myasthenic_syndrome|Congenital_myasthenic_syndrome_10|DOK7-related_condition|Fetal_akinesia_deformation_sequence_1|Fetal_akinesia_deformation_sequence_3|Inborn_genetic_diseases|Rett_syndrome|See_cases,Myopia_23,_autosomal_recessive,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome|MSX1-related_condition,.,.,.,.,Curry-Hall_syndrome|EVC2-related_condition|Ellis-van_Creveld_syndrome|Inborn_genetic_diseases|Jeune_thoracic_dystrophy|Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly|Type_IV_short_rib_polydactyly_syndrome|not_specified,Curry-Hall_syndrome|EVC-related_condition|Ellis-van_Creveld_syndrome|Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly,.,.,.,Smith-Magenis_Syndrome-like,.,Abnormality_of_the_cervical_spine|Abnormality_of_the_diaphragm|Abnormality_of_the_vertebral_column|Arachnodactyly|Autosomal_dominant_nonsyndromic_hearing_loss_6|Cataract_41|Cerebellar_vermis_hypoplasia|Cleft_palate|Congenital_laryngomalacia|Dandy-Walker_syndrome|Diabetes_mellitus|Diaphragmatic_eventration|Duane_retraction_syndrome|Feeding_difficulties|Global_developmental_delay|Hydronephrosis|Hydroureter|Inborn_genetic_diseases|Microglossia|Micrognathia|Night_blindness|Nonsyndromic_genetic_hearing_loss|Rare_genetic_deafness|See_cases|Sensorineural_hearing_loss_disorder|Small_hand|Type_2_diabetes_mellitus|WFS1-Related_Spectrum_Disorders|WFS1-related_condition|WFS1-related_disorder|Wolfram-like_syndrome|Wolfram_syndrome|Wolfram_syndrome_1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Isolated_microphthalmia_6,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;B_gain_source=.,dbVar|esv2763806,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,dbVar,dbVar,dbVar,dbVar,.,.,dbVar,.,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,.,dbVar,.,.,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,.,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,.,dbVar,.,.,.,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,.,.,.,.,.,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|DDD:12922|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|DDD:12922|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|DDD:12922|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174;B_gain_coord=.,4:12282-121562|chr4:67914-130131,chr4:71970-524981|chr4:103000-188000,chr4:71970-524981|chr4:191270-254556,chr4:71970-524981,chr4:71970-524981|chr4:297194-398976|chr4:308401-399950,chr4:71970-524981|chr4:297194-398976|chr4:308401-399950|chr4:335381-378075,chr4:71970-524981,chr4:71970-524981,.,.,.,chr4:613000-729000,chr4:613000-729000|chr4:653000-672000,chr4:613000-729000,chr4:613000-729000,.,.,chr4:754376-832076,.,.,.,chr4:968425-1004663,chr4:968425-1004663,chr4:997718-1171806,chr4:997718-1171806,chr4:997718-1171806,chr4:997718-1171806,.,.,.,.,chr4:1212000-1328000,.,.,chr4:1395250-1402000,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr4:2235501-2406763|chr4:2237000-2302000,chr4:2235501-2406763|chr4:2237000-2302000,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr4:3599563-3715752|chr4:3601813-3701023|chr4:3621281-3742478,.,chr4:3895471-4250523|chr4:3898327-4166047|chr4:3906095-3993252|chr4:3938384-4025767|chr4:3939497-4298000,chr4:3895471-4250523|chr4:3939497-4298000,chr4:3895471-4250523|chr4:3939497-4298000,chr4:3939497-4298000,.,.,.,.,.,.,chr4:4763025-4828041,chr4:4785101-5227993|chr4:4833228-4894750,chr4:4785101-5227993|chr4:4833228-4894750,chr4:4785101-5227993,chr4:4785101-5227993,.,chr4:5486512-5554541,.,.,.,.,.,chr4:5960239-6587328,chr4:5960239-6587328,chr4:5960239-6587328,chr4:5960239-6587328,chr4:6438729-6651391,chr4:6438729-6651391,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr4:8311538-8373454,.,.,.,.,.,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560|4:9212771-9237062,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560|4:9212771-9237062,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560|4:9212771-9237062,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|c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,.,.,.,.,.,Definitive|Strong|Supportive,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;GenCC_pmid=.,.,.,.,.,23160277|26394607[PMID]_23160277[PMID],.,.,.,26996948|28581210|28771251,.,.,12641462|17044014|19578023|20301590[PMID]|22334370|22968130|24265693|24760071|24938718|25472526|26667666|28559085|30646425|8075643|8075643[PMID]|8394174|8595886,.,.,.,.,.,11163241|26539891|28422131|28422131[PMID],.,.,.,24250268|27210743,10466419|10735634|11735025|21394825|21480867|22976768|23917744|4221470|6821579|7550232|7951228|8328452|8664897|8680403[PMID]|9391892,.,25342176|31125047,.,.,.,.,.,12101226|26480814|27094857|28408745|28955726|30356033|31041561|32075774|9524128,.,.,22466610|22466610[PMID]_22466611[PMID]_22466612[PMID],.,.,.,.,.,10053006|10053006[PMID]_18076102[PMID]|10215410|10671061|10696568|10914960[PMID]|11055896|11406607|11467490|15909185|16411219|16441300|16501574|16501574[PMID]|16912704|17033969|17033969[PMID]_24864036[PMID]|18076102|18818193|194190|19449430|20301540[PMID]|20301588[PMID]_20301628[PMID]_21438135[PMID]|20301628[PMID]|20301650[PMID]_23149434[PMID]|21536014|23149434[PMID]|24864036|27139183|28249712|28483234|7493034|7647778|7670477|7758520|7773297|7847369|7913883|8078586|8589686|8630492|8640234|8845844|8880573|8880574|9042914|9279753|9300656|9450868|9452043|9580776,26960370|27287194|30378700|30773800|36055214,19483677|26633542|28600779|29760529|29892088|30244530|30345613|31171569|9618163,.,.,.,.,11310630|15328569|16802720|19807691|26511242,.,.,.,.,.,.,.,.,.,11381256|12900899|17147794|17321449|17368082|19038533|22153076|22153077|22640988|24382142|24916406|26064398|NULL,.,.,.,.,.,.,11264541|17181545[PMID]|20301482[PMID]_21566141[PMID]|248284|26740508|27329733|7550343|7618107|7774020|8401587|8458085,.,.,.,16794080|16917026|17439981|18626973|19261599|19261599[PMID]|20147321|20301347[PMID]|29395672|31453852|32360404,23830514|25525168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,1054139|10742093|10815578|11369996|11369996[PMID]|12097313|12807959|15264286|15354328|16498076|26502894|4521949|8466837|8469557|8696335|9742121|NULL,.,.,.,.,16404586|17024374|17547743|19810119|19876929|225500|22616035|23220543|23220543[PMID]_22791528[PMID]_12571802[PMID]_12468274[PMID]|23220543[PMID]_22791528[PMID]_16404586[PMID],10700184|10700184[PMID]|12468274|12571802|14217223|17024374|21815252|23220543|23220543[PMID]_22791528[PMID]_19744229[PMID]_18947413[PMID]|26748586|29321360|30076350|7218275|7628126,.,.,.,.,.,10521293|11161832|11295831|11317648|11709537|11709538|12073007|12107816|12707373|12754709|12955714|14724730|15070927|15151504|15277431|15503287|15605410|16151413|16442662|16459465|16648378|16806192|16806192[PMID]_12913071[PMID]|17492394|17568405|18544103|18660851|18806274|19042979|19160074|20069065|20069065[PMID]_20301750[PMID]|20301607[PMID]_24148127[PMID]|20875904|21067485|21446023|21538838|21564155|21602428|21623591|21726277|21823543|21968327|22226368|222300|22238590|22311385|22781099|23103830|23373429|23531866|23531866[PMID]|243330|248846|251462|25250959|25390390|27395765|28802351|29529044|31313226|31555371|34014271|35018440|606201|9771706,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,18423520|18423520[PMID]_25574057[PMID]|19379485|25574057|29140751,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,152687,255403,642280,654254,7700,693156,79963,170960,54872,112441426,.,5158,521,4636,84179,10336,100129917,10815,2580,84286,1609,10861,3425,53834,285498,.,100379220,10417,.,285463,1487,92070,10296,57654,54729,152877,7884,92305,10460,2261,3954,7468,677770,7469,100126332,401115,339983,353497,79441,10608,100616358,57732,402160,6047,8603,79155,6452,118,10227,317648,8602,2868,100750326,3064,345222,6002,3083,285489,4043,285492,100133461,152,348926,133060,85013,55646,166793,27065,53407,104472519,100507266,109623454,.,103695434,4487,.,54360,55351,10141,132884,2121,1400,100616201,389197,152789,285484,7466,5522,23324,93621,105374366,.,339988,6286,114932,55330,9778,57533,.,257236,93624,80273,730971,57537,100616471,768239,100422826,84740,60312,.,84448,407052,54436,726,105374374,8310,152992,27201,8532,3166,100287045,100287144,100287178,100287205,100287238,100288520,100287327,100287364,100287404,100287441,100287478,100287513,728369,728373,728379,728386,728393,728400,728405,391627,728419,391622;OMIM_ID=194648|616918|180072|605032|610130|252800|612041|602618|614632|134934|604407|602952|610647|602104|102680|613004|610285|104225|104250|142983|607261|604831|606201|142992,.,.,.,.,194648,.,.,.,616918,.,.,180072,.,.,.,.,.,605032,.,.,.,610130,252800,.,612041,.,.,.,.,.,602618,.,.,614632,.,.,.,.,.,134934,604407,602952,.,.,.,.,610647,.,.,.,.,.,.,.,.,.,602104,102680,.,.,.,.,.,613004,.,.,.,610285,104225,.,.,104250,.,.,.,.,.,.,.,.,.,.,.,.,142983,.,.,.,.,607261,604831,.,.,.,.,.,606201,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,142992,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_phenotype=.,.,.,.,.,?Polydactyly,_postaxial,_type_A6,_615226_(3)_AR,.,.,.,Neurodevelopmental_disorder_with_or_without_hypotonia,_seizures,_and_cerebellar_atrophy,_616917_(3)_AR|[Blood_group,_EMM_system],_619812_(3)_AR,.,.,Night_blindness,_congenital_stationary,_AD_2,_163500_(3)_AD|Retinitis_pigmentosa-40,_613801_(3)_AR,.,.,.,.,.,Developmental_and_epileptic_encephalopathy_63,_617976_(3)_AR,.,.,.,?Hypersulfaturia,_620372_(3)_AR|?Nephrolithiasis,_calcium_oxalate,_1,_167030_(3)_AR,Mucopolysaccharidosis_Ih,_607014_(3)_AR|Mucopolysaccharidosis_Ih/s,_607015_(3)_AR|Mucopolysaccharidosis_Is,_607016_(3)_AR,.,?Spermatogenic_failure_62,_619673_(3)_AR|Recombination_rate_QTL_1,_612042_(3),.,.,.,.,.,Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome,_617915_(3)_AD,.,.,UV-sensitive_syndrome_3,_614640_(3)_AR,.,.,.,.,.,Achondroplasia,_100800_(3)_AD|Bladder_cancer,_somatic,_109800_(3)|CATSHL_syndrome,_610474_(3)_AD,AR|Cervical_cancer,_somatic,_603956_(3)|Colorectal_cancer,_somatic,_114500_(3)|Crouzon_syndrome_with_acanthosis_nigricans,_612247_(3)_AD|Hypochondroplasia,_146000_(3)_AD|LADD_syndrome_2,_620192_(3)_AD|Muenke_syndrome,_602849_(3)_AD|Nevus,_epidermal,_somatic,_162900_(3)|SADDAN,_616482_(3)_AD|Spermatocytic_seminoma,_somatic,_273300_(3)|Thanatophoric_dysplasia,_type_I,_187600_(3)_AD|Thanatophoric_dysplasia,_type_II,_187601_(3)_AD,Neurodegeneration,_childhood-onset,_with_multisystem_involvement_due_to_mitochondrial_dysfunction,_620089_(3)_AR,Rauch-Steindl_syndrome,_619695_(3)_AD,.,.,.,.,?N-acetylaspartate_deficiency,_614063_(3)_AR,.,.,.,.,.,.,.,.,.,Cherubism,_118400_(3)_AD,(Hypertension,_essential,_salt-sensitive),_145500_(3)_Multifactorial,.,.,.,.,.,Huntington_disease,_143100_(3)_AD|Lopes-Maciel-Rodan_syndrome,_617435_(3)_AR,.,.,.,Fetal_akinesia_deformation_sequence_3,_618389_(3)_AR|Myasthenic_syndrome,_congenital,_10,_254300_(3)_AR,Myopia_23,_AR,_615431_(3)_AR,.,.,(Congestive_heart_failure_and_beta-blocker_response,_modifier_of)_(3),.,.,.,.,.,.,.,.,.,.,.,.,Ectodermal_dysplasia_3,_Witkop_type,_189500_(3)_AD|Orofacial_cleft_5,_608874_(3)_AD|Tooth_agenesis,_selective,_1,_with_or_without_orofacial_cleft,_106600_(3)_AD,.,.,.,.,Ellis-van_Creveld_syndrome,_225500_(3)_AR|Weyers_acrofacial_dysostosis,_193530_(3)_AD,?Weyers_acrofacial_dysostosis,_193530_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR,.,.,.,.,.,?Cataract_41,_116400_(3)_AD|Deafness,_AD_6/14/38,_600965_(3)_AD|Wolfram_syndrome_1,_222300_(3)_AR|Wolfram-like_syndrome,_AD,_614296_(3)_AD|(Diabetes_mellitus,_noninsulin-dependent,_association_with),_125853_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Oculoauricular_syndrome,_612109_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_inheritance=.,.,.,.,.,AR,.,.,.,AR,.,.,AD|AR,.,.,.,.,.,AR,.,.,.,AR,AR,.,AR,.,.,.,.,.,AD,.,.,AR,.,.,.,.,.,AD|AD,AR,AR,AD,.,.,.,.,AR,.,.,.,.,.,.,.,.,.,AD,Multifactorial,.,.,.,.,.,AD|AR,.,.,.,AR,AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,AD|AR,AD|AR,.,.,.,.,.,AD|AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_morbid=yes,.,.,.,.,.,.,.,.,yes,.,.,yes,.,.,.,.,.,yes,.,.,.,.,yes,.,yes,.,.,.,.,.,yes,.,.,yes,.,.,.,.,.,yes,yes,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,yes,.,.,.,yes,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,yes,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_morbid_candidate=yes,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;LOEUF_bin=0,6,.,.,7,7,.,.,9,5,.,.,6,.,9,.,1,.,2,1,6,3,8,6,3,4,.,.,9,.,.,1,.,2,7,3,6,4,8,3,3,3,.,.,2,.,7,2,7,6,2,.,2,.,2,0,3,6,1,7,.,2,6,.,0,2,3,4,5,6,8,.,3,.,9,8,5,4,7,5,.,.,.,.,.,5,.,9,5,.,5,5,1,.,7,0,.,9,1,5,6,.,.,.,9,8,9,0,2,.,8,2,4,.,2,.,.,.,.,3,.,2,.,7,6,.,5,7,9,9,3,9,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;GnomAD_pLI=1,0.3055,.,.,0.098159,0.10393,.,.,0.094789,5.4258e-15,.,.,2.6155e-27,.,8.4023e-14,.,0.95326,.,0.82499,0.0051818,3.0549e-09,1.7603e-09,1.0564e-11,3.7599e-13,0.011908,0.0015645,.,.,2.6609e-15,.,.,0.98442,.,0.22741,5.4127e-25,0.71465,0.0035705,0.068148,2.3074e-11,2.7082e-07,1.6432e-05,1.2141e-06,.,.,0.13469,.,0.51423,0.86458,9.488e-41,1.2992e-09,0.77635,.,0.07234,.,0.79973,0.99993,0.0015926,1.156e-11,0.9883,7.3331e-11,.,2.1363e-06,1.6286e-15,.,1,0.80456,4.0922e-09,1.9843e-08,0.00010263,4.4951e-07,0.45772,.,0.50159,.,4.8437e-24,0.00019994,3.758e-07,1.3752e-08,0.0088286,2.4881e-07,.,.,.,.,.,0.16517,.,1.0733e-05,4.9116e-08,.,1.0207e-34,3.4620000000000003e-25,0.99173,.,7.736100000000001e-19,0.99986,.,1.6230999999999999e-38,0.89954,6.557e-23,0.31404,.,.,.,0.033257,0.0025481,0.10151,0.99999,0.039267,.,1.9555e-17,0.72366,0.13916,.,0.0031696,.,.,.,.,2.3828e-07,.,0.0045858,.,6.0939e-35,6.5843e-08,.,7.6016e-16,2.0315e-22,2.6834e-06,8.8063e-36,0.72623,0.28656,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;ExAC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GT 1/. 4 69392546 . T . PASS AnnotSV_ID=4_69392546_69462438_DEL_1;SV_start=69392546;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=q13.2;Gene_name=UGT2B17;Closest_left=TMPRSS11E;Closest_right=UGT2B15;Gene_count=1;Tx=.,NM_001077;Tx_version=.,4;Tx_start=.,69402890;Tx_end=.,69442040;Overlapped_tx_length=.,39150;Overlapped_CDS_length=.,1593;Overlapped_CDS_percent=.,100;Frameshift=.,no;Exon_count=.,7;Location=.,txStart-txEnd;Location2=.,5'UTR-3'UTR;Intersect_start=.,69402890;Intersect_end=.,69442040;po_P_gain_source=dbVar:nssv15165478|dbVar:nssv15148693|dbVar:nssv15165480|dbVar:nssv15164282|dbVar:nssv15149870|nssv15151360|dbVar:nssv15145710|dbVar:nssv17956560|dbVar:nssv15153593|dbVar:nssv15774461;po_P_gain_coord=4:11526-191028879|4:12441-190904441|4:49451-190915650|4:49451-190963766|4:68347-190957473|4:52697789-98426769|4:52866945-143582507|4:64705502-73469716|4:68242785-82991431;po_P_gain_percent=0.04|0.04|0.04|0.04|0.04|0.15|0.08|0.80|0.47;po_P_loss_source=dbVar:nssv17173265|dbVar:nssv15165214|dbVar:nssv15125766|dbVar:nssv17969950|dbVar:nssv15141158|dbVar:nssv15132956|dbVar:nssv15132546|dbVar:nssv15137205|dbVar:nssv18830797|dbVar:nssv16207960;po_P_loss_coord=4:52757981-76930872|4:58332295-71587615|4:59167246-101910659|4:61867556-74711517|4:66017576-76772947|4:66320281-73179410|4:67708127-71697274|4:68665384-75106637|4:68698774-83637218|4:68950364-79738598;po_P_loss_percent=0.29|0.53|0.16|0.54|0.65|1.02|1.75|1.09|0.47|0.65;B_gain_source=DDD:13999|dbVar|dgv1490e212|dgv5262n100|dgv5264n100;B_gain_coord=4:69360477-69485827|4:69364694-69524016|chr4:69365480-69553855|4:69371992-69489323|4:69371992-69540013|chr4:69373950-69490950;B_gain_AFmax=0.4178;B_loss_source=1000g|DDD:13999|DDD:14001|DDD:14006|IMH|dbVar|dgv5262n100|dgv951e199|esv2421501|esv3600874|esv3893940|gnomAD-SV_v2.1_DEL_4_46338|nsv514223;B_loss_coord=4:69364694-69524016|4:69367085-69542363|4:69371992-69489323|4:69372046-69491392|4:69373660-69491275|chr4:69373811-69491113|4:69373811-69491113|4:69374942-69503681|chr4:69375591-69491543|4:69375592-69491543|4:69375592-69491543|4:69380302-69491200|4:69382081-69512905|4:69386966-69483317;B_loss_AFmax=0.8518;B_inv_source=IMH;B_inv_coord=4:21758876-84442542|4:32219469-79170284;B_inv_AFmax=0.1946;po_B_gain_someG_source=4:69364694-69524016_DDD:13999|4:69366026-69430178_DDD:14000|4:69371992-69540013_dgv5264n100|4:69435890-69485966_dgv1493e212|;po_B_gain_someG_coord=4:69360477-69485827_dgv1490e212|chr4:69365480-69553855_dbVar|4:69371992-69489323_dgv5262n100|chr4:69373950-69490950_dbVar|4:69435890-69551731_dgv1495e212;po_B_loss_someG_source=4:69364694-69524016_DDD:13999|4:69367085-69542363_DDD:14001|4:69372046-69491392_dgv951e199|chr4:69373747-69423167_dbVar|4:69373748-69423167_esv3600873|4:69373811-69491113_gnomAD-SV_v2.1_DEL_4_46338|4:69374942-69503681_esv2421501|4:69375592-69491543_1000g|4:69380302-69491200_DDD:14006|4:69386966-69483317_nsv514223|4:69426440-69454553_1000g|4:69435890-69485966_dgv1494e212|chr4:69441908-69442050_dbVar|;po_B_loss_someG_coord=4:69360489-69396466_DDD:13998|4:69366026-69430178_DDD:14000|4:69371992-69489323_dgv5262n100|4:69373660-69491275_IMH|4:69373748-69423167_1000g|chr4:69373811-69491113_dbVar|4:69374942-69396466_DDD:14004|chr4:69375591-69491543_dbVar|4:69375592-69491543_esv3600874|4:69382081-69512905_esv3893940|chr4:69426439-69454553_dbVar|4:69426440-69454553_esv3600875|4:69435890-69558258_dgv1496e212|chr4:69446429-69446529_dbVar;Cosmic_ID=1066120|2666915|1397960|1223404|1447809|2109610|2228872|2484300|2954216|2279170|2285811,1397960;Cosmic_mut_typ=loss|gain,gain;GC_content_left=0.4;GC_content_right=0.365;Repeat_coord_left=4:69392108-69392544;Repeat_type_left=Tigger2a;Repeat_coord_right=4:69462528-69462751;Repeat_type_right=THE1B;SegDup_left=4:69370649-69435791;DDD_HI_percent=87.45;ExAC_synZ=0.741987855668132;ExAC_misZ=1.6951286981971;NCBI_gene_ID=.,7367;OMIM_ID=601903;OMIM_phenotype=.,(Bone_mineral_density_QTL_12,_osteoporosis),_612560_(3);OMIM_morbid_candidate=yes;LOEUF_bin=5;GnomAD_pLI=9.6905e-08;ExAC_pLI=0.010256;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=1,full=1;END=69462438;SVLEN=-69892 GT 1/. 5 723195 . G . PASS AnnotSV_ID=5_723195_777000_DUP_1;SV_start=723195;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=p15.33;Gene_name=ZDHHC11B;Closest_left=TPPP;Closest_right=ZDHHC11;Gene_count=1;Tx=.,NM_001351303;Tx_version=.,2;Tx_start=.,710469;Tx_end=.,784844;Overlapped_tx_length=.,53806;Overlapped_CDS_length=.,1058;Overlapped_CDS_percent=.,94;Frameshift=.,yes;Exon_count=.,14;Location=.,intron1-intron12;Location2=.,5'UTR-CDS;Dist_nearest_SS=.,6214;Nearest_SS_type=.,3';Intersect_start=.,723194;Intersect_end=.,777000;RE_gene=NDUFS6_(morbid/RE=ABC_enhancer)|SDHA_(morbid/RE=EA_enhancer)|SLC9A3_(morbid/RE=GH_enhancer)|TRIP13_(morbid/RE=ABC_enhancer+EA_enhancer);po_P_gain_source=dbVar:nssv15164761|dbVar:nssv15125831|dbVar:nssv15146713|dbVar:nssv15139036|dbVar:nssv15136993|dbVar:nssv15145871|dbVar:nssv15147378|dbVar:nssv15147960|dbVar:nssv15146962|dbVar:nssv15147414|dbVar:nssv15164765|dbVar:nssv15164764|dbVar:nssv15149091|dbVar:nssv15147291|dbVar:nssv15146993|dbVar:nssv15146992|dbVar:nssv15150844|dbVar:nssv17976838|dbVar:nssv15153658|dbVar:nssv15151111|nssv15151221;po_P_gain_coord=5:13649-180905029|5:22150-10308848|5:22150-15851485|5:22150-1659250|5:22150-2324057|5:22150-23607162|5:22150-28075213|5:22150-33418294|5:22150-34041255|5:22150-73708550|5:25329-180693344|5:25329-18698028|5:25329-19661628|5:50094-46115086|5:54955-35680947|5:54955-45649963|5:113577-20240392|5:113577-29310520|5:113577-35739404|5:113578-180719789;po_P_gain_percent=0.03|0.52|0.34|3.29|2.34|0.23|0.19|0.16|0.16|0.07|0.03|0.29|0.27|0.12|0.15|0.12|0.27|0.18|0.15|0.03;po_P_loss_phen=5p15_terminal_(Cri_du_chat_syndrome)_region;po_P_loss_source=dbVar:nssv18330851|dbVar:nssv18841914|dbVar:nssv17649947|dbVar:nssv15147173|dbVar:nssv15145875|dbVar:nssv15147440|dbVar:nssv15146459|dbVar:nssv15146622|dbVar:nssv15147702|dbVar:nssv15136268|dbVar:nssv15146696|dbVar:nssv15145969|dbVar:nssv15151220|dbVar:nssv15132269|dbVar:nssv15148862|dbVar:nssv15148231|dbVar:nssv15147402|dbVar:nssv15146458|dbVar:nssv15149597|dbVar:nssv15147956|dbVar:nssv15148968|dbVar:nssv15148844|dbVar:nssv15146717|dbVar:nssv15148985|dbVar:nssv15148016|dbVar:nssv15148112|dbVar:nssv15145972|dbVar:nssv16866488|dbVar:nssv15140376|dbVar:nssv15148058|dbVar:nssv15148554|dbVar:nssv15132604|dbVar:nssv15134412|dbVar:nssv15147416|dbVar:nssv15140515|dbVar:nssv15135741|dbVar:nssv15141721|dbVar:nssv15138139|dbVar:nssv15139127|dbVar:nssv15139876|dbVar:nssv15134733|dbVar:nssv15142657|dbVar:nssv15141520|dbVar:nssv15147171|dbVar:nssv15150118|dbVar:nssv15146522|dbVar:nssv15164763|dbVar:nssv15150859|dbVar:nssv15166282|dbVar:nssv15132966|dbVar:nssv15132967|HI3:ISCA-37390|dbVar:nssv15146165|nssv15146815|dbVar:nssv15148064|dbVar:nssv15132680|dbVar:nssv15223218|dbVar:nssv15134417|dbVar:nssv16216549|dbVar:nssv15149121|dbVar:nssv15150161|dbVar:nssv15137858|dbVar:nssv15150229|dbVar:nssv15149886|dbVar:nssv16208009|dbVar:nssv17976839|dbVar:nssv15148942|dbVar:nssv16208008|dbVar:nssv15149911|dbVar:nssv15151402|dbVar:nssv15153655|dbVar:nssv15152885|dbVar:nssv15151403|dbVar:nssv18326313|dbVar:nssv15149508|dbVar:nssv16208007|dbVar:nssv15151241|dbVar:nssv15150601|dbVar:nssv15150625|dbVar:nssv17977082|dbVar:nssv15145995|dbVar:nssv15151861|dbVar:nssv16255066|dbVar:nssv16208006|dbVar:nssv16208011|dbVar:nssv15142295|dbVar:nssv16208010|dbVar:nssv15153656|dbVar:nssv15152886|dbVar:nssv15137538|dbVar:nssv15153657|dbVar:nssv17976724|dbVar:nssv15146000|dbVar:nssv17956677|dbVar:nssv18330187|dbVar:nssv18329119|dbVar:nssv18329189|dbVar:nssv15606071|dbVar:nssv15606072|dbVar:nssv16213555|dbVar:nssv16213990|dbVar:nssv18787102|dbVar:nssv18790308;po_P_loss_coord=5:2-32091038|5:10002-14320109|5:13201-4012072|5:22150-10044199|5:22150-11429370|5:22150-11530503|5:22150-12004203|5:22150-12820111|5:22150-13362684|5:22150-1429714|5:22150-16584684|5:22150-16930125|5:22150-17788806|5:22150-1826370|5:22150-21217229|5:22150-21726469|5:22150-22775404|5:22150-23132155|5:22150-24835567|5:22150-25699714|5:22150-26594000|5:22150-27188057|5:22150-27485726|5:22150-27611270|5:22150-27788723|5:22150-28429348|5:22150-28589299|5:22150-29048823|5:22150-2965987|5:22150-32248116|5:22150-34041196|5:22150-3404358|5:22150-3557056|5:22150-35831640|5:22150-4163847|5:22150-4260264|5:22150-4641409|5:22150-4833739|5:22150-5060009|5:22150-5102699|5:22150-6060215|5:22150-6112711|5:22150-6500967|5:22150-7213388|5:22150-9958240|5:22420-19281001|5:25329-18662625|5:25329-30672798|5:25329-31343671|5:37693-2747022|5:37693-2913319|5:37694-11347262|5:50094-15678560|5:50094-30112642|5:50094-4014761|5:52187-4163906|5:54955-5603514|5:71905-22078969|5:79147-15509107|5:79147-22152284|5:95244-5834664|5:113577-10163809|5:113577-10729838|5:113577-11767720|5:113577-12601027|5:113577-14684471|5:113577-14738180|5:113577-15291661|5:113577-15822225|5:113577-1708530|5:113577-1816055|5:113577-19167699|5:113577-2027194|5:113577-23047959|5:113577-23364376|5:113577-25091472|5:113577-26234903|5:113577-26948599|5:113577-30712376|5:113577-33998394|5:113577-4175855|5:113577-4305172|5:113577-4325585|5:113577-5194484|5:113577-5380741|5:113577-5657333|5:113577-5884399|5:113577-6125331|5:113577-6244090|5:113577-7946262|5:113577-8007018|5:113577-8876045|5:113578-16952167|5:113578-17654787|5:113578-26164852|5:113578-31448527|5:140475-26906925|5:140475-9792158|5:218462-1295161|5:218465-1297488|5:218472-1895829|5:482644-1895829;po_P_loss_percent=0.17|0.38|1.35|0.54|0.47|0.47|0.45|0.42|0.40|3.82|0.32|0.32|0.30|2.98|0.25|0.25|0.24|0.23|0.22|0.21|0.20|0.20|0.20|0.20|0.19|0.19|0.19|0.19|1.83|0.17|0.16|1.59|1.52|0.15|1.30|1.27|1.16|1.12|1.07|1.06|0.89|0.88|0.83|0.75|0.54|0.28|0.29|0.18|0.17|1.99|1.87|0.48|0.34|0.18|1.36|1.31|0.97|0.24|0.35|0.24|0.94|0.54|0.51|0.46|0.43|0.37|0.37|0.35|0.34|3.37|3.16|0.28|2.81|0.23|0.23|0.22|0.21|0.20|0.18|0.16|1.32|1.28|1.28|1.06|1.02|0.97|0.93|0.90|0.88|0.69|0.68|0.61|0.32|0.31|0.21|0.17|0.20|0.56|5.00|4.99|3.21|3.81;B_gain_source=DDD:16279|DDD:16284|dbVar|dgv131e203;B_gain_coord=chr5:432151-919355|5:653582-875018|chr5:685856-850649|5:686604-840273|5:708603-865477;B_gain_AFmax=0.1231;B_loss_source=DDD:16279|DDD:16284|dgv1000e199|dgv131e203;B_loss_coord=5:653582-875018|5:682475-788359|5:686604-840273|5:708603-865477;B_loss_AFmax=0.0497;B_inv_source=IMH;B_inv_coord=5:238915-1591166|5:244073-1583559|5:244336-1583852|5:261961-1570436;B_inv_AFmax=0.2771;po_B_gain_someG_source=5:653582-875018_dgv131e203|5:686604-840273_DDD:16279|chr5:714350-736500_dbVar|5:714989-733938_1000g|5:714989-733938_1000g|5:717638-748444_DDD:16285|5:754104-754760_IMH|5:757677-778933_1000g|5:757677-778933_1000g|5:763398-838450_DDD:16291;po_B_gain_someG_coord=chr5:432151-919355_dbVar|chr5:685856-850649_dbVar|5:708603-865477_DDD:16284|chr5:714988-733938_dbVar|5:714989-733938_1000g|5:714989-733938_dgv1061e214|chr5:732207-843089_dbVar|chr5:757676-778933_dbVar|5:757677-778933_1000g|5:757677-778933_dgv1062e214;po_B_loss_someG_source=5:682475-788359_dgv1000e199|5:708603-865477_DDD:16284|5:714989-733938_1000g|chr5:724284-724491_dbVar|5:747151-776399_DDD:16288|chr5:757676-778933_dbVar|5:757677-778933_esv3603772|chr5:764454-764539_dbVar|;po_B_loss_someG_coord=5:653582-875018_dgv131e203|5:686604-840273_DDD:16279|chr5:714988-733938_dbVar|5:714989-733938_esv3603766|chr5:725960-726319_dbVar|5:747846-753492_esv2673755|5:757677-778933_1000g|5:763398-838450_DDD:16291|chr5:774523-774617_dbVar;Cosmic_ID=744527|685925|659292|744529|709867|697438|663622|778865|682015|665581|664429|653823|703782|663623|664430|663624|664431|654500|697439|673937|774010|654501|673938|673939;Cosmic_mut_typ=loss|gain;GC_content_left=0.395;GC_content_right=0.58;Repeat_coord_left=5:721917-723166;Repeat_type_left=L1ME3F;SegDup_left=5:686123-731394;SegDup_right=5:770128-777143;DDD_HI_percent=98.37;ExAC_synZ=0.535222227518795;ExAC_misZ=-0.0274451648003615;NCBI_gene_ID=.,653082;LOEUF_bin=8;GnomAD_pLI=3.6787e-13;ExAC_pLI=0.043228;AnnotSV_ranking_score=0;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2E_(cf_B_gain_source,_+0.00)|2L_(ZDHHC11B,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=3,full=3;END=777000;SVLEN=53805 GT 1/. -5 88774329 . T . PASS AnnotSV_ID=5_88774329_91802402_DEL_1;SV_start=88774329;Biologist_annotation=TAD_MEF2C;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q14.3;Gene_name=MIR3660|LINC01339|CETN3|LOC731157|MBLAC2|POLR3G|LYSMD3|ADGRV1|LUCAT1|ARRDC3|ARRDC3-AS1,MIR3660,LINC01339,CETN3,LOC731157,MBLAC2,POLR3G,LYSMD3,ADGRV1,LUCAT1,ARRDC3,ARRDC3-AS1;Closest_left=MEF2C-AS1;Closest_right=NR2F1-AS1;Gene_count=11;Tx=.,NR_037433,NR_120601,NM_001297765,NR_105024,NM_203406,NM_001370354,NM_198273,NM_032119,NR_103548,NM_020801,NR_027435;Tx_version=.,1,1,2,1,2,1,2,4,1,4,1;Tx_start=.,89312437,89454155,89688073,89705816,89754025,89769745,89811442,89854613,90598802,90664447,90676163;Tx_end=.,89312537,89585888,89705573,89706486,89770588,89810374,89825401,90460254,90610219,90679134,90716532;Overlapped_tx_length=.,100,131733,17500,670,16563,40629,13959,605641,11417,14687,40369;Overlapped_CDS_length=.,0,0,576,0,840,672,921,18921,0,1245,0;Overlapped_CDS_percent=.,0,0,100,0,100,100,100,100,0,100,0;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,1,6,6,2,2,8,3,90,5,8,3;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR;Intersect_start=.,89312437,89454155,89688073,89705816,89754025,89769745,89811442,89854613,90598802,90664447,90676163;Intersect_end=.,89312537,89585888,89705573,89706486,89770588,89810374,89825401,90460254,90610219,90679134,90716532;RE_gene=AGO2_(morbid/RE=mTL_miRNA)|B4GALNT1_(morbid/RE=mTL_miRNA)|CEP57_(morbid/RE=mTL_miRNA)|EPHA2_(morbid/RE=mTL_miRNA)|GFPT1_(morbid/RE=mTL_miRNA)|GPSM2_(morbid/RE=mTL_miRNA)|KDM6A_(HI=3/morbid/RE=mTL_miRNA)|KMT2A_(HI=3/morbid/RE=mTL_miRNA)|MEF2C_(HI=3/morbid/RE=ABC_enhancer+GH_enhancer)|MSX2_(morbid/RE=mTL_miRNA)|NODAL_(morbid/RE=mTL_miRNA)|NR2F1_(HI=3/morbid/RE=ABC_enhancer)|PIGS_(morbid/RE=mTL_miRNA)|PLEKHM1_(morbid/RE=mTL_miRNA)|PPP1R15B_(morbid/RE=mTL_miRNA)|PRKACB_(morbid/RE=mTL_miRNA)|SELENOI_(morbid/RE=mTL_miRNA)|UFL1_(morbid/RE=mTL_miRNA);P_gain_source=dbVar:nssv17172150|dbVar:nssv17172151|dbVar:nssv17974002|dbVar:nssv17974003|dbVar:nssv17976802,.,.,.,.,.,.,.,dbVar:nssv17172150|dbVar:nssv17172151|dbVar:nssv17974002|dbVar:nssv17974003|dbVar:nssv17976802,.,.,.;P_gain_coord=5:89920928-89923613|5:89938434-89948400|5:89938454-89949769|5:90136804-90261231|5:90144435-90159694,.,.,.,.,.,.,.,5:89920928-89923613|5:89938434-89948400|5:89938454-89949769|5:90136804-90261231|5:90144435-90159694,.,.,.;P_loss_phen=?Febrile_seizures,_familial,_4,_604352_(3)_AD|Usher_syndrome,_type_2C,_605472_(3)_Digenic_dominant,AR|Usher_syndrome,_type_2C,_GPR98|PDZD7_digenic,_605472_(3)_Digenic_dominant,AR|Usher_syndrome_type_2C,.,.,.,.,.,.,.,?Febrile_seizures,_familial,_4,_604352_(3)_AD|Usher_syndrome,_type_2C,_605472_(3)_Digenic_dominant,AR|Usher_syndrome,_type_2C,_GPR98|PDZD7_digenic,_605472_(3)_Digenic_dominant,AR,.,.,.;P_loss_source=CLN:2419348|dbVar:nssv15120153|dbVar:nssv15132320|dbVar:nssv15222969|dbVar:nssv15771046|dbVar:nssv15772847|nssv15776039|dbVar:nssv15774334|dbVar:nssv16211859|dbVar:nssv17171561|dbVar:nssv17955830|dbVar:nssv17955831|dbVar:nssv17970856|dbVar:nssv17971694|dbVar:nssv17972093|dbVar:nssv17972414|dbVar:nssv17974150|dbVar:nssv17975051|dbVar:nssv17976597|dbVar:nssv18787826|dbVar:nssv18787827|dbVar:nssv18787828|dbVar:nssv18787829|dbVar:nssv18787830|dbVar:nssv18787831|dbVar:nssv18787832|dbVar:nssv18787833|dbVar:nssv18787834|dbVar:nssv18792626|dbVar:nssv8639335|dbVar:nssv8639887|morbid:ADGRV1,.,.,.,.,.,.,.,dbVar:nssv15120153|dbVar:nssv15222969|dbVar:nssv15771046|dbVar:nssv15772847|nssv15776039|dbVar:nssv15774334|dbVar:nssv17171561|dbVar:nssv17955830|dbVar:nssv17955831|dbVar:nssv17970856|dbVar:nssv17971694|dbVar:nssv17972093|dbVar:nssv17972414|dbVar:nssv17974150|dbVar:nssv17975051|dbVar:nssv17976597|dbVar:nssv18787826|dbVar:nssv18787827|dbVar:nssv18787828|dbVar:nssv18787829|dbVar:nssv18787830|dbVar:nssv18787831|dbVar:nssv18787832|dbVar:nssv18787833|dbVar:nssv18787834|dbVar:nssv8639335|dbVar:nssv8639887|morbid:ADGRV1,.,.,.;P_loss_coord=5:89414155-89415062|5:89414156-89415061|5:89523964-90412409|5:89854614-90460254|5:89854714-90459717|5:89910547-90079868|5:89910633-90002231|5:89915000-89968362|5:89918395-90059306|5:89930912-90079894|5:89940238-89999954|5:89940504-89986878|5:89940571-89940765|5:89953703-89954115|5:89953723-89954095|5:89969852-89975466|5:89988605-90077246|5:89989688-90000325|5:89990520-90136394|5:89992735-90125023|5:89999463-89999632|5:90015866-90016040|5:90046349-90049666|5:90112103-90219415|5:90119223-90151738|5:90150020-90159573|5:90151539-90151738|5:90221275-90357290|5:90261233-90678909|5:90368245-90398177|5:90368250-90459732,.,.,.,.,.,.,.,5:89854614-90460254|5:89854714-90459717|5:89910547-90079868|5:89910633-90002231|5:89915000-89968362|5:89918395-90059306|5:89930912-90079894|5:89940238-89999954|5:89940504-89986878|5:89940571-89940765|5:89953703-89954115|5:89953723-89954095|5:89969852-89975466|5:89988605-90077246|5:89989688-90000325|5:89990520-90136394|5:89992735-90125023|5:89999463-89999632|5:90015866-90016040|5:90046349-90049666|5:90112103-90219415|5:90119223-90151738|5:90150020-90159573|5:90151539-90151738|5:90221275-90357290|5:90368245-90398177|5:90368250-90459732,.,.,.;P_ins_source=CLN:1393621|CLN:1447486|dbVar:nssv17971430|dbVar:nssv17974885,.,.,.,.,.,.,.,CLN:1393621|CLN:1447486|dbVar:nssv17971430|dbVar:nssv17974885,.,.,.;P_ins_coord=5:89949103-89949102|5:89949103-89949236|5:89990260-89990259|5:89990260-89990371,.,.,.,.,.,.,.,5:89949103-89949102|5:89949103-89949236|5:89990260-89990259|5:89990260-89990371,.,.,.;po_P_gain_source=dbVar:nssv15164761|dbVar:nssv15164765|dbVar:nssv15151111|nssv15151221|dbVar:nssv16206767|dbVar:nssv15120567|dbVar:nssv15132159|dbVar:nssv15142272|dbVar:nssv15151420|dbVar:nssv15135062|dbVar:nssv16207624|dbVar:nssv15776426;po_P_gain_coord=5:13649-180905029|5:25329-180693344|5:113578-180719789|5:72790062-97478870|5:73459012-110145153|5:86420656-92718726|5:86621338-89204392|5:87399002-92675748|5:87493550-92528869|5:87792845-109221844|5:89949119-129317455;po_P_gain_percent=1.67|1.68|1.68|12.26|8.25|48.08|16.65|57.39|60.14|14.13|4.71;po_P_loss_source=dbVar:nssv15151179|dbVar:nssv17970035|dbVar:nssv15138006|dbVar:nssv15127576|dbVar:nssv15120741|dbVar:nssv15122759|dbVar:nssv15143209|nssv17976344|dbVar:nssv15133640|dbVar:nssv15140345|dbVar:nssv15132311|dbVar:nssv18841850|dbVar:nssv15167313|dbVar:nssv15121450|dbVar:nssv15142367|dbVar:nssv15132971|dbVar:nssv15133836|dbVar:nssv15121948|dbVar:nssv15132637|dbVar:nssv15121951|dbVar:nssv15138054|dbVar:nssv15120743|dbVar:nssv15139660|dbVar:nssv8639414|dbVar:nssv15138098|dbVar:nssv15152898;po_P_loss_coord=5:17628742-176575720|5:82185952-90110454|5:83899399-110770779|5:85045626-89302638|5:86039541-91633081|5:86062777-91444662|5:86400001-154000000|5:86487716-89253266|5:86530416-88893604|5:86672701-100860147|5:87485354-93120303|5:87512315-95096562|5:87664107-91698938|5:87764486-90147447|5:88016215-88783092|5:88062498-89028098|5:88232588-93437723|5:88348148-88783092|5:88377170-104022949|5:89670424-127412115|5:90682370-97701584|5:90707526-130655256|5:91064111-93896378|5:91327087-93283043|5:91504102-104858348;po_P_loss_percent=1.91|16.86|11.27|12.41|51.11|49.62|4.48|17.32|5.05|21.34|53.74|39.93|72.48|57.62|1.14|26.28|58.17|2.01|19.35|5.65|15.96|2.74|26.07|24.30|2.23;P_snvindel_nb=319,.,.,.,.,.,.,.,319,.,.,.;P_snvindel_phen=ADGRV1-Related_Disorders|ADGRV1-related_condition|Autosomal_recessive_sensorineural_hearing_loss|Ear_malformation|Febrile_seizures,_familial,_4|Hearing_impairment|Hearing_loss,_autosomal_recessive|Rare_genetic_deafness|Retinal_dystrophy|Usher_syndrome|Usher_syndrome_type_2|Usher_syndrome_type_2C,.,.,.,.,.,.,.,ADGRV1-Related_Disorders|ADGRV1-related_condition|Autosomal_recessive_sensorineural_hearing_loss|Ear_malformation|Febrile_seizures,_familial,_4|Hearing_impairment|Hearing_loss,_autosomal_recessive|Rare_genetic_deafness|Retinal_dystrophy|Usher_syndrome|Usher_syndrome_type_2|Usher_syndrome_type_2C,.,.,.;B_inv_source=IMH;B_inv_coord=5:24758285-101693420|5:28691217-97582419|5:84488955-162334467;B_inv_AFmax=0.5483;po_B_gain_someG_source=chr5:88916144-88918908_dbVar|chr5:88933279-88933593_dbVar|chr5:89264627-89264683_dbVar|chr5:89359900-89373100_dbVar|chr5:89531601-89531940_dbVar|chr5:89628452-89648641_dbVar|chr5:89701625-89701760_dbVar|5:89860422-89860742_1000g|chr5:90113593-90118383_dbVar|chr5:90262584-90262832_dbVar|chr5:90289016-90289191_dbVar|chr5:90438449-90438606_dbVar|chr5:90610837-90613664_dbVar|chr5:90618087-90620700_dbVar|chr5:90866987-90867072_dbVar|chr5:90897077-90897172_dbVar|chr5:91237043-91237105_dbVar|chr5:91527295-91534644_dbVar|chr5:91620000-91629000_dbVar;po_B_gain_someG_coord=chr5:88908578-88917988_dbVar|chr5:88923056-88924318_dbVar|chr5:89235196-89235428_dbVar|5:89264627-89264683_gnomAD-SV_v2.1_DUP_5_15710|chr5:89450461-89452777_dbVar|chr5:89572897-89573040_dbVar|chr5:89657266-89676019_dbVar|5:89788663-89788952_IMH|chr5:90104120-90104339_dbVar|chr5:90250672-90250748_dbVar|chr5:90273278-90273491_dbVar|chr5:90383359-90394423_dbVar|chr5:90574109-90575794_dbVar|chr5:90611309-90627643_dbVar|chr5:90674000-90680000_dbVar|5:90866987-90867072_gnomAD-SV_v2.1_DUP_5_15730|chr5:90897800-90897875_dbVar|chr5:91276653-91280205_dbVar|chr5:91546845-91547285_dbVar;po_B_loss_someG_source=chr5:88806361-88806411_dbVar|chr5:88831687-88837255_dbVar|chr5:89003565-89004043_dbVar|chr5:89003715-89004039_dbVar|5:89003716-89004039_esv3605750|5:89003721-89004043_esv2657768|chr5:89029798-89029893_dbVar|chr5:89045213-89045498_dbVar|chr5:89047323-89047872_dbVar|chr5:89067203-89083487_dbVar|chr5:89101197-89101273_dbVar|chr5:89113277-89114892_dbVar|chr5:89131325-89131385_dbVar|chr5:89209000-89239000_dbVar|chr5:89257321-89262348_dbVar|chr5:89359000-89373000_dbVar|chr5:89388378-89389723_dbVar|chr5:89436013-89437273_dbVar|chr5:89563059-89564683_dbVar|chr5:89578750-89579142_dbVar...;po_B_loss_someG_coord=chr5:88803653-88817310_dbVar|chr5:88824732-88824785_dbVar|chr5:88832512-88834519_dbVar|5:89003565-89004043_gnomAD-SV_v2.1_DEL_5_59965|5:89003716-89004039_1000g|5:89003721-89004043_IMH|chr5:89018000-89031000_dbVar|chr5:89039679-89039840_dbVar|chr5:89047322-89047872_dbVar|chr5:89052853-89052953_dbVar|chr5:89084915-89086582_dbVar|chr5:89112611-89115172_dbVar|chr5:89124435-89124505_dbVar|chr5:89171348-89171401_dbVar|chr5:89234368-89234446_dbVar|chr5:89299879-89302011_dbVar|chr5:89388306-89389753_dbVar|chr5:89407162-89407215_dbVar|chr5:89471562-89472013_dbVar|chr5:89574182-89585732_dbVar...;Cosmic_ID=1883320|592857|593588|593633|1328155|634829|634852|564142|727176|624588|1888140|2114074|940517|940575|674174|856984|857645|51544|620748|744569|430608|278131|1012046|241490|1048899|1049414|79894|80096|80110|80111|709899|343338|783070|808135|854054|116747|848199|830393|505759|187745|1896842|161012|433625|85336|644330|509507|540671|584871|870987|1042268|1048901|...,.,.,.,.,.,.,.,1048904|278132|1012047|709900|298920|299426|299474|1506541|808136|1048905|412573|792183|792683|213805|278133|744570|2587397|774121|868439|1167734|1235286|1667822|1048906|3092210|1030337|1030338|854055|332918|186491|1832039|344762|1129390|1453730|1591506|1919311|2227613|2411628|2991366|2533050|2100188|2294896|2857514|1919485|988869|1743351|1472404|2485541|1996536|2806466|2114593|1184520|...,.,.,.;Cosmic_mut_typ=loss|gain,.,.,.,.,.,.,.,gain|loss,.,.,.;GC_content_left=0.335;GC_content_right=0.275;Repeat_coord_right=5:91802185-91802338;Repeat_type_right=L2a;HI=.,.,.,.,.,.,.,.,30,.,.,.;TS=.,.,.,.,.,.,.,.,0,.,.,.;DDD_HI_percent=38.97,.,.,5.94,.,38.68,38.97,28.58,25.58,.,10.63,.;ExAC_delZ=0.855259196084686,.,.,0.855259196084686,.,-0.0315707309390069,0.478729015674934,.,.,.,0.745040589608255,.;ExAC_dupZ=1.02927857149332,.,.,1.02927857149332,.,0.414676882744812,0.798950378312061,.,.,.,1.00834122048279,.;ExAC_cnvZ=1.26063232799998,.,.,1.26063232799998,.,0.420940108293089,0.929744998199481,.,.,.,1.19108832249232,.;ExAC_synZ=1.13380694792028,.,.,-1.0886019180172,.,1.13380694792028,0.494543657071353,0.0616099264393714,.,.,0.196967347879621,.;ExAC_misZ=1.83366808117122,.,.,0.322004765294048,.,0.9911283716698,-0.512733755306802,-0.398837217747125,.,.,1.83366808117122,.;GenCC_disease=.,.,.,.,.,.,.,.,Usher_syndrome_type_2|Usher_syndrome_type_2C|febrile_seizures,_familial,_4|nonsyndromic_genetic_hearing_loss,.,.,.;GenCC_moi=.,.,.,.,.,.,.,.,AD|AR,.,.,.;GenCC_classification=.,.,.,.,.,.,.,.,Definitive|Disputed_Evidence|Limited|Strong|Supportive,.,.,.;GenCC_pmid=.,.,.,.,.,.,.,.,14740321|16775142|19357116|19357117|20301515[PMID]|22135276|22147658|23441107|25572244|280396,.,.,.;NCBI_gene_ID=.,100500825,101929495,1070,.,153364,10622,116068,84059,100505994,57561,100129716;OMIM_ID=602851,.,.,.,.,.,.,.,602851,.,.,.;OMIM_phenotype=.,.,.,.,.,.,.,.,?Febrile_seizures,_familial,_4,_604352_(3)_AD|Usher_syndrome,_type_2C,_605472_(3)_Digenic_dominant,AR|Usher_syndrome,_type_2C,_GPR98/PDZD7_digenic,_605472_(3)_Digenic_dominant,AR,.,.,.;OMIM_inheritance=.,.,.,.,.,.,.,.,AD|Digenic_dominant,AR,.,.,.;OMIM_morbid=yes,.,.,.,.,.,.,.,yes,.,.,.;OMIM_morbid_candidate=yes,.,.,.,.,.,.,.,yes,.,.,.;LOEUF_bin=1,.,.,7,.,7,8,3,.,.,1,.;GnomAD_pLI=0.98715,.,.,0.00010528,.,4.5418e-05,1.7611e-10,0.30382,.,.,0.98715,.;ExAC_pLI=0.97875,.,.,0.011321,.,0.0002801,6.4276e-05,0.77182,.,.,0.97875,.;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(11_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=91802402;SVLEN=-3028073 GT 1/. +5 88774329 . T . PASS AnnotSV_ID=5_88774329_91802402_DEL_1;SV_start=88774329;Biologist_annotation=TAD_MEF2C;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q14.3;Gene_name=MIR3660|LINC01339|CETN3|LOC731157|MBLAC2|POLR3G|LYSMD3|ADGRV1|LUCAT1|ARRDC3|ARRDC3-AS1,MIR3660,LINC01339,CETN3,LOC731157,MBLAC2,POLR3G,LYSMD3,ADGRV1,LUCAT1,ARRDC3,ARRDC3-AS1;Closest_left=MEF2C-AS1;Closest_right=NR2F1-AS1;Gene_count=11;Tx=.,NR_037433,NR_120601,NM_001297765,NR_105024,NM_203406,NM_001370354,NM_198273,NM_032119,NR_103548,NM_020801,NR_027435;Tx_version=.,1,1,2,1,2,1,2,4,1,4,1;Tx_start=.,89312437,89454155,89688073,89705816,89754025,89769745,89811442,89854613,90598802,90664447,90676163;Tx_end=.,89312537,89585888,89705573,89706486,89770588,89810374,89825401,90460254,90610219,90679134,90716532;Overlapped_tx_length=.,100,131733,17500,670,16563,40629,13959,605641,11417,14687,40369;Overlapped_CDS_length=.,0,0,576,0,840,672,921,18921,0,1245,0;Overlapped_CDS_percent=.,0,0,100,0,100,100,100,100,0,100,0;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,1,6,6,2,2,8,3,90,5,8,3;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR;Intersect_start=.,89312437,89454155,89688073,89705816,89754025,89769745,89811442,89854613,90598802,90664447,90676163;Intersect_end=.,89312537,89585888,89705573,89706486,89770588,89810374,89825401,90460254,90610219,90679134,90716532;RE_gene=AGO2_(morbid/RE=mTL_miRNA)|B4GALNT1_(morbid/RE=mTL_miRNA)|CEP57_(morbid/RE=mTL_miRNA)|EPHA2_(morbid/RE=mTL_miRNA)|GFPT1_(morbid/RE=mTL_miRNA)|GPSM2_(morbid/RE=mTL_miRNA)|KDM6A_(HI=3/morbid/RE=mTL_miRNA)|KMT2A_(HI=3/morbid/RE=mTL_miRNA)|MEF2C_(HI=3/morbid/RE=ABC_enhancer+GH_enhancer)|MSX2_(morbid/RE=mTL_miRNA)|NODAL_(morbid/RE=mTL_miRNA)|NR2F1_(HI=3/morbid/RE=ABC_enhancer)|PIGS_(morbid/RE=mTL_miRNA)|PLEKHM1_(morbid/RE=mTL_miRNA)|PPP1R15B_(morbid/RE=mTL_miRNA)|PRKACB_(morbid/RE=mTL_miRNA)|SELENOI_(morbid/RE=mTL_miRNA);P_gain_source=dbVar:nssv17172150|dbVar:nssv17172151|dbVar:nssv17974002|dbVar:nssv17974003|dbVar:nssv17976802,.,.,.,.,.,.,.,dbVar:nssv17172150|dbVar:nssv17172151|dbVar:nssv17974002|dbVar:nssv17974003|dbVar:nssv17976802,.,.,.;P_gain_coord=5:89920928-89923613|5:89938434-89948400|5:89938454-89949769|5:90136804-90261231|5:90144435-90159694,.,.,.,.,.,.,.,5:89920928-89923613|5:89938434-89948400|5:89938454-89949769|5:90136804-90261231|5:90144435-90159694,.,.,.;P_loss_phen=?Febrile_seizures,_familial,_4,_604352_(3)_AD|Usher_syndrome,_type_2C,_605472_(3)_Digenic_dominant,AR|Usher_syndrome,_type_2C,_GPR98|PDZD7_digenic,_605472_(3)_Digenic_dominant,AR|Usher_syndrome_type_2C,.,.,.,.,.,.,.,?Febrile_seizures,_familial,_4,_604352_(3)_AD|Usher_syndrome,_type_2C,_605472_(3)_Digenic_dominant,AR|Usher_syndrome,_type_2C,_GPR98|PDZD7_digenic,_605472_(3)_Digenic_dominant,AR,.,.,.;P_loss_source=CLN:2419348|dbVar:nssv15120153|dbVar:nssv15132320|dbVar:nssv15222969|dbVar:nssv15771046|dbVar:nssv15772847|nssv15776039|dbVar:nssv15774334|dbVar:nssv16211859|dbVar:nssv17171561|dbVar:nssv17955830|dbVar:nssv17955831|dbVar:nssv17970856|dbVar:nssv17971694|dbVar:nssv17972093|dbVar:nssv17972414|dbVar:nssv17974150|dbVar:nssv17975051|dbVar:nssv17976597|dbVar:nssv18787826|dbVar:nssv18787827|dbVar:nssv18787828|dbVar:nssv18787829|dbVar:nssv18787830|dbVar:nssv18787831|dbVar:nssv18787832|dbVar:nssv18787833|dbVar:nssv18787834|dbVar:nssv18792626|dbVar:nssv8639335|dbVar:nssv8639887|morbid:ADGRV1,.,.,.,.,.,.,.,dbVar:nssv15120153|dbVar:nssv15222969|dbVar:nssv15771046|dbVar:nssv15772847|nssv15776039|dbVar:nssv15774334|dbVar:nssv17171561|dbVar:nssv17955830|dbVar:nssv17955831|dbVar:nssv17970856|dbVar:nssv17971694|dbVar:nssv17972093|dbVar:nssv17972414|dbVar:nssv17974150|dbVar:nssv17975051|dbVar:nssv17976597|dbVar:nssv18787826|dbVar:nssv18787827|dbVar:nssv18787828|dbVar:nssv18787829|dbVar:nssv18787830|dbVar:nssv18787831|dbVar:nssv18787832|dbVar:nssv18787833|dbVar:nssv18787834|dbVar:nssv8639335|dbVar:nssv8639887|morbid:ADGRV1,.,.,.;P_loss_coord=5:89414155-89415062|5:89414156-89415061|5:89523964-90412409|5:89854614-90460254|5:89854714-90459717|5:89910547-90079868|5:89910633-90002231|5:89915000-89968362|5:89918395-90059306|5:89930912-90079894|5:89940238-89999954|5:89940504-89986878|5:89940571-89940765|5:89953703-89954115|5:89953723-89954095|5:89969852-89975466|5:89988605-90077246|5:89989688-90000325|5:89990520-90136394|5:89992735-90125023|5:89999463-89999632|5:90015866-90016040|5:90046349-90049666|5:90112103-90219415|5:90119223-90151738|5:90150020-90159573|5:90151539-90151738|5:90221275-90357290|5:90261233-90678909|5:90368245-90398177|5:90368250-90459732,.,.,.,.,.,.,.,5:89854614-90460254|5:89854714-90459717|5:89910547-90079868|5:89910633-90002231|5:89915000-89968362|5:89918395-90059306|5:89930912-90079894|5:89940238-89999954|5:89940504-89986878|5:89940571-89940765|5:89953703-89954115|5:89953723-89954095|5:89969852-89975466|5:89988605-90077246|5:89989688-90000325|5:89990520-90136394|5:89992735-90125023|5:89999463-89999632|5:90015866-90016040|5:90046349-90049666|5:90112103-90219415|5:90119223-90151738|5:90150020-90159573|5:90151539-90151738|5:90221275-90357290|5:90368245-90398177|5:90368250-90459732,.,.,.;P_ins_source=CLN:1393621|CLN:1447486|dbVar:nssv17971430|dbVar:nssv17974885,.,.,.,.,.,.,.,CLN:1393621|CLN:1447486|dbVar:nssv17971430|dbVar:nssv17974885,.,.,.;P_ins_coord=5:89949103-89949102|5:89949103-89949236|5:89990260-89990259|5:89990260-89990371,.,.,.,.,.,.,.,5:89949103-89949102|5:89949103-89949236|5:89990260-89990259|5:89990260-89990371,.,.,.;po_P_gain_source=dbVar:nssv15164761|dbVar:nssv15164765|dbVar:nssv15151111|nssv15151221|dbVar:nssv16206767|dbVar:nssv15120567|dbVar:nssv15132159|dbVar:nssv15142272|dbVar:nssv15151420|dbVar:nssv15135062|dbVar:nssv16207624|dbVar:nssv15776426;po_P_gain_coord=5:13649-180905029|5:25329-180693344|5:113578-180719789|5:72790062-97478870|5:73459012-110145153|5:86420656-92718726|5:86621338-89204392|5:87399002-92675748|5:87493550-92528869|5:87792845-109221844|5:89949119-129317455;po_P_gain_percent=1.67|1.68|1.68|12.26|8.25|48.08|16.65|57.39|60.14|14.13|4.71;po_P_loss_source=dbVar:nssv15151179|dbVar:nssv17970035|dbVar:nssv15138006|dbVar:nssv15127576|dbVar:nssv15120741|dbVar:nssv15122759|dbVar:nssv15143209|nssv17976344|dbVar:nssv15133640|dbVar:nssv15140345|dbVar:nssv15132311|dbVar:nssv18841850|dbVar:nssv15167313|dbVar:nssv15121450|dbVar:nssv15142367|dbVar:nssv15132971|dbVar:nssv15133836|dbVar:nssv15121948|dbVar:nssv15132637|dbVar:nssv15121951|dbVar:nssv15138054|dbVar:nssv15120743|dbVar:nssv15139660|dbVar:nssv8639414|dbVar:nssv15138098|dbVar:nssv15152898;po_P_loss_coord=5:17628742-176575720|5:82185952-90110454|5:83899399-110770779|5:85045626-89302638|5:86039541-91633081|5:86062777-91444662|5:86400001-154000000|5:86487716-89253266|5:86530416-88893604|5:86672701-100860147|5:87485354-93120303|5:87512315-95096562|5:87664107-91698938|5:87764486-90147447|5:88016215-88783092|5:88062498-89028098|5:88232588-93437723|5:88348148-88783092|5:88377170-104022949|5:89670424-127412115|5:90682370-97701584|5:90707526-130655256|5:91064111-93896378|5:91327087-93283043|5:91504102-104858348;po_P_loss_percent=1.91|16.86|11.27|12.41|51.11|49.62|4.48|17.32|5.05|21.34|53.74|39.93|72.48|57.62|1.14|26.28|58.17|2.01|19.35|5.65|15.96|2.74|26.07|24.30|2.23;P_snvindel_nb=319,.,.,.,.,.,.,.,319,.,.,.;P_snvindel_phen=ADGRV1-Related_Disorders|ADGRV1-related_condition|Autosomal_recessive_sensorineural_hearing_loss|Ear_malformation|Febrile_seizures,_familial,_4|Hearing_impairment|Hearing_loss,_autosomal_recessive|Rare_genetic_deafness|Retinal_dystrophy|Usher_syndrome|Usher_syndrome_type_2|Usher_syndrome_type_2C,.,.,.,.,.,.,.,ADGRV1-Related_Disorders|ADGRV1-related_condition|Autosomal_recessive_sensorineural_hearing_loss|Ear_malformation|Febrile_seizures,_familial,_4|Hearing_impairment|Hearing_loss,_autosomal_recessive|Rare_genetic_deafness|Retinal_dystrophy|Usher_syndrome|Usher_syndrome_type_2|Usher_syndrome_type_2C,.,.,.;B_inv_source=IMH;B_inv_coord=5:24758285-101693420|5:28691217-97582419|5:84488955-162334467;B_inv_AFmax=0.5483;po_B_gain_someG_source=chr5:88916144-88918908_dbVar|chr5:88933279-88933593_dbVar|chr5:89264627-89264683_dbVar|chr5:89359900-89373100_dbVar|chr5:89531601-89531940_dbVar|chr5:89628452-89648641_dbVar|chr5:89701625-89701760_dbVar|5:89860422-89860742_1000g|chr5:90113593-90118383_dbVar|chr5:90262584-90262832_dbVar|chr5:90289016-90289191_dbVar|chr5:90438449-90438606_dbVar|chr5:90610837-90613664_dbVar|chr5:90618087-90620700_dbVar|chr5:90866987-90867072_dbVar|chr5:90897077-90897172_dbVar|chr5:91237043-91237105_dbVar|chr5:91527295-91534644_dbVar|chr5:91620000-91629000_dbVar;po_B_gain_someG_coord=chr5:88908578-88917988_dbVar|chr5:88923056-88924318_dbVar|chr5:89235196-89235428_dbVar|5:89264627-89264683_gnomAD-SV_v2.1_DUP_5_15710|chr5:89450461-89452777_dbVar|chr5:89572897-89573040_dbVar|chr5:89657266-89676019_dbVar|5:89788663-89788952_IMH|chr5:90104120-90104339_dbVar|chr5:90250672-90250748_dbVar|chr5:90273278-90273491_dbVar|chr5:90383359-90394423_dbVar|chr5:90574109-90575794_dbVar|chr5:90611309-90627643_dbVar|chr5:90674000-90680000_dbVar|5:90866987-90867072_gnomAD-SV_v2.1_DUP_5_15730|chr5:90897800-90897875_dbVar|chr5:91276653-91280205_dbVar|chr5:91546845-91547285_dbVar;po_B_loss_someG_source=chr5:88806361-88806411_dbVar|chr5:88831687-88837255_dbVar|chr5:89003565-89004043_dbVar|chr5:89003715-89004039_dbVar|5:89003716-89004039_esv3605750|5:89003721-89004043_esv2657768|chr5:89029798-89029893_dbVar|chr5:89045213-89045498_dbVar|chr5:89047323-89047872_dbVar|chr5:89067203-89083487_dbVar|chr5:89101197-89101273_dbVar|chr5:89113277-89114892_dbVar|chr5:89131325-89131385_dbVar|chr5:89209000-89239000_dbVar|chr5:89257321-89262348_dbVar|chr5:89359000-89373000_dbVar|chr5:89388378-89389723_dbVar|chr5:89436013-89437273_dbVar|chr5:89563059-89564683_dbVar|chr5:89578750-89579142_dbVar...;po_B_loss_someG_coord=chr5:88803653-88817310_dbVar|chr5:88824732-88824785_dbVar|chr5:88832512-88834519_dbVar|5:89003565-89004043_gnomAD-SV_v2.1_DEL_5_59965|5:89003716-89004039_1000g|5:89003721-89004043_IMH|chr5:89018000-89031000_dbVar|chr5:89039679-89039840_dbVar|chr5:89047322-89047872_dbVar|chr5:89052853-89052953_dbVar|chr5:89084915-89086582_dbVar|chr5:89112611-89115172_dbVar|chr5:89124435-89124505_dbVar|chr5:89171348-89171401_dbVar|chr5:89234368-89234446_dbVar|chr5:89299879-89302011_dbVar|chr5:89388306-89389753_dbVar|chr5:89407162-89407215_dbVar|chr5:89471562-89472013_dbVar|chr5:89574182-89585732_dbVar...;Cosmic_ID=1883320|592857|593588|593633|1328155|634829|634852|564142|727176|624588|1888140|2114074|940517|940575|674174|856984|857645|51544|620748|744569|430608|278131|1012046|241490|1048899|1049414|79894|80096|80110|80111|709899|343338|783070|808135|854054|116747|848199|830393|505759|187745|1896842|161012|433625|85336|644330|509507|540671|584871|870987|1042268|1048901|...,.,.,.,.,.,.,.,1048904|278132|1012047|709900|298920|299426|299474|1506541|808136|1048905|412573|792183|792683|213805|278133|744570|2587397|774121|868439|1167734|1235286|1667822|1048906|3092210|1030337|1030338|854055|332918|186491|1832039|344762|1129390|1453730|1591506|1919311|2227613|2411628|2991366|2533050|2100188|2294896|2857514|1919485|988869|1743351|1472404|2485541|1996536|2806466|2114593|1184520|...,.,.,.;Cosmic_mut_typ=loss|gain,.,.,.,.,.,.,.,gain|loss,.,.,.;GC_content_left=0.335;GC_content_right=0.275;Repeat_coord_right=5:91802185-91802338;Repeat_type_right=L2a;HI=.,.,.,.,.,.,.,.,30,.,.,.;TS=.,.,.,.,.,.,.,.,0,.,.,.;DDD_HI_percent=38.97,.,.,5.94,.,38.68,38.97,28.58,25.58,.,10.63,.;ExAC_delZ=0.855259196084686,.,.,0.855259196084686,.,-0.0315707309390069,0.478729015674934,.,.,.,0.745040589608255,.;ExAC_dupZ=1.02927857149332,.,.,1.02927857149332,.,0.414676882744812,0.798950378312061,.,.,.,1.00834122048279,.;ExAC_cnvZ=1.26063232799998,.,.,1.26063232799998,.,0.420940108293089,0.929744998199481,.,.,.,1.19108832249232,.;ExAC_synZ=1.13380694792028,.,.,-1.0886019180172,.,1.13380694792028,0.494543657071353,0.0616099264393714,.,.,0.196967347879621,.;ExAC_misZ=1.83366808117122,.,.,0.322004765294048,.,0.9911283716698,-0.512733755306802,-0.398837217747125,.,.,1.83366808117122,.;GenCC_disease=.,.,.,.,.,.,.,.,Usher_syndrome_type_2|Usher_syndrome_type_2C|febrile_seizures,_familial,_4|nonsyndromic_genetic_hearing_loss,.,.,.;GenCC_moi=.,.,.,.,.,.,.,.,AD|AR,.,.,.;GenCC_classification=.,.,.,.,.,.,.,.,Definitive|Disputed_Evidence|Limited|Strong|Supportive,.,.,.;GenCC_pmid=.,.,.,.,.,.,.,.,14740321|16775142|19357116|19357117|20301515[PMID]|22135276|22147658|23441107|25572244|280396,.,.,.;NCBI_gene_ID=.,100500825,101929495,1070,.,153364,10622,116068,84059,100505994,57561,100129716;OMIM_ID=602851,.,.,.,.,.,.,.,602851,.,.,.;OMIM_phenotype=.,.,.,.,.,.,.,.,?Febrile_seizures,_familial,_4,_604352_(3)_AD|Usher_syndrome,_type_2C,_605472_(3)_Digenic_dominant,AR|Usher_syndrome,_type_2C,_GPR98/PDZD7_digenic,_605472_(3)_Digenic_dominant,AR,.,.,.;OMIM_inheritance=.,.,.,.,.,.,.,.,AD|Digenic_dominant,AR,.,.,.;OMIM_morbid=yes,.,.,.,.,.,.,.,yes,.,.,.;OMIM_morbid_candidate=yes,.,.,.,.,.,.,.,yes,.,.,.;LOEUF_bin=1,.,.,7,.,7,8,3,.,.,1,.;GnomAD_pLI=0.98715,.,.,0.00010528,.,4.5418e-05,1.7611e-10,0.30382,.,.,0.98715,.;ExAC_pLI=0.97875,.,.,0.011321,.,0.0002801,6.4276e-05,0.77182,.,.,0.97875,.;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(11_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=91802402;SVLEN=-3028073 GT 1/. 6 266080 . C . PASS AnnotSV_ID=6_266080_362290_DEL_1;SV_start=266080;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=p25.3;Gene_name=DUSP22;Closest_left=LOC285766;Closest_right=IRF4;Gene_count=1;Tx=.,NM_001286555;Tx_version=.,3;Tx_start=.,292486;Tx_end=.,351355;Overlapped_tx_length=.,58869;Overlapped_CDS_length=.,618;Overlapped_CDS_percent=.,100;Frameshift=.,no;Exon_count=.,7;Location=.,txStart-txEnd;Location2=.,5'UTR-3'UTR;Intersect_start=.,292486;Intersect_end=.,351355;RE_gene=EXOC2_(morbid/RE=ABC_enhancer+EA_enhancer+GH_promoter_enhancer)|FOXC1_(HI=3/morbid/RE=ABC_enhancer);po_P_gain_source=dbVar:nssv15166690|dbVar:nssv15132417|dbVar:nssv15166692|dbVar:nssv15120571|dbVar:nssv17649861|dbVar:nssv15138806|dbVar:nssv15150238|dbVar:nssv15136852|dbVar:nssv15137715|dbVar:nssv15139508|dbVar:nssv15139953|dbVar:nssv15154408|dbVar:nssv15154409|dbVar:nssv15772668|dbVar:nssv15161578|dbVar:nssv15161859|nssv15161868|dbVar:nssv15132517|dbVar:nssv15133942|dbVar:nssv15135449|dbVar:nssv15131978|dbVar:nssv15168255|dbVar:nssv15124407|nssv15153178|dbVar:nssv15124483|dbVar:nssv16255328;po_P_gain_coord=6:60108-171054786|6:106432-18360826|6:108667-170980171|6:144958-5239414|6:149620-3951208|6:152635-14417234|6:152635-15732394|6:152635-6027780|6:155808-17058645|6:156975-11551050|6:156975-13081433|6:156975-13502033|6:156975-21955964|6:156975-23221621|6:156975-46757028|6:156976-170919482|6:163084-1951585|6:163084-2029765|6:163084-9525729|6:164361-13340113|6:165633-170919470|6:168776-24023234|6:255351-3189972|6:302184-3290583;po_P_gain_percent=0.06|0.53|0.06|1.89|2.53|0.67|0.62|1.64|0.57|0.84|0.74|0.72|0.44|0.42|0.21|0.06|5.38|5.15|1.03|0.73|0.06|0.40|3.28|2.01;po_P_loss_source=dbVar:nssv15127418|dbVar:nssv15133557|dbVar:nssv15168254|dbVar:nssv15134981|dbVar:nssv15135893|dbVar:nssv15139184|dbVar:nssv16254736|dbVar:nssv15139679|dbVar:nssv15151182|dbVar:nssv16208808|dbVar:nssv15152915|dbVar:nssv15137052|dbVar:nssv15142299|dbVar:nssv15138353|dbVar:nssv18330309|dbVar:nssv15133558|dbVar:nssv15134713|dbVar:nssv15132439|dbVar:nssv15132039|dbVar:nssv15133559|dbVar:nssv15132182|dbVar:nssv15132440|dbVar:nssv15137716|dbVar:nssv15125242|dbVar:nssv15141126|dbVar:nssv15124398|dbVar:nssv15124411;po_P_loss_coord=6:60524-1768235|6:107683-4979015|6:108667-1505511|6:152635-5315912|6:152635-6027780|6:152635-6290037|6:152850-1888703|6:156975-13856156|6:156975-2030623|6:156975-2208360|6:156975-3398920|6:156975-4907926|6:156975-6417749|6:156975-7122992|6:156976-3718881|6:163084-2724845|6:163084-3459841|6:163084-5875635|6:163084-6063033|6:164634-5823834|6:164634-6284470|6:165676-9036267|6:170427-1622218|6:180960-2180143|6:195230-2117379|6:204010-11608587|6:204010-6447311;po_P_loss_percent=5.63|1.98|6.89|1.86|1.64|1.57|5.54|0.70|5.13|4.69|2.97|2.03|1.54|1.38|2.70|3.76|2.92|1.68|1.63|1.70|1.57|1.08|6.63|4.81|5.01|0.84|1.54;B_gain_source=DDD:19553|DDD:19555|dbVar|dgv140e203|nsv514340;B_gain_coord=6:230528-373346|6:236002-373603|chr6:256313-383004|6:257333-380527|6:257354-382897;B_gain_AFmax=0.6839;B_loss_source=DDD:19555|dbVar|dgv1701e212;B_loss_coord=chr6:180946-734275|6:236002-373603|6:254255-385771;B_loss_AFmax=0.187;po_B_gain_someG_source=6:236002-373603_DDD:19555|6:253364-302293_dgv1695e212|chr6:256313-383004_dbVar|6:256503-293373_1000g|6:257333-380527_nsv514340|6:257354-294837_esv2421434|6:259529-339802_TS40:ISCA-37471|chr6:296702-383004_dbVar|chr6:305181-340601_dbVar|6:305182-340601_1000g|chr6:327586-368712_dbVar|6:327587-368712_1000g|6:344136-379149_DDD:19570;po_B_gain_someG_coord=6:230528-373346_DDD:19553|6:253364-294911_dgv1694e212|chr6:256313-296702_dbVar|chr6:256502-293373_dbVar|6:256503-293373_dgv1157e214|6:257354-293393_DDD:19561|6:257354-382897_dgv140e203|6:294125-385771_dgv1705e212|6:298701-379015_esv2421645|6:305182-340601_1000g|6:305182-340601_dgv1158e214|6:327587-368712_1000g|6:327587-368712_dgv1159e214;po_B_loss_someG_source=6:236002-373603_DDD:19555|6:254255-385771_dgv1701e212|chr6:295586-296060_dbVar|chr6:295710-295782_dbVar|chr6:314312-314882_dbVar|chr6:340942-340994_dbVar|;po_B_loss_someG_coord=chr6:180946-734275_dbVar|6:252694-302294_dgv1693e212|6:259529-339802_HI40:ISCA-37471|6:295586-296060_gnomAD-SV_v2.1_DEL_6_65910|chr6:299088-299161_dbVar|chr6:329960-330054_dbVar|chr6:340943-340994_dbVar;Cosmic_ID=857006|857659|609630|1938466|994363|887275|902698|2603845|857660|744870|744873|1429292|1807702|1591974|744881|746818|747174|1068500|1072273|1905160,1938466|994363|887275|902698|857660|744870|744873|1429292|1591974|744881|746818|747174|1068500|1072273;Cosmic_mut_typ=gain|loss,loss|gain;GC_content_left=0.365;GC_content_right=0.315;Repeat_coord_left=6:266156-266836;Repeat_type_left=L1MC3;Repeat_coord_right=6:362320-362381;Repeat_type_right=MIRc;ENCODE_blacklist_left=6:256601-382800;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=6:256601-382800;ENCODE_blacklist_characteristics_right=High_Signal_Region;DDD_HI_percent=38.68;ExAC_synZ=-1.35330421932959;ExAC_misZ=-0.982727799381157;NCBI_gene_ID=.,56940;LOEUF_bin=5;GnomAD_pLI=0.0093421;ExAC_pLI=0.0043071;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=1,full=1;END=362290;SVLEN=-96210 GT 1/. 6 29854871 . G . PASS AnnotSV_ID=6_29854871_29896710_DEL_1;SV_start=29854871;Biologist_ranking=Benign;Annotation_mode=full,split,split;CytoBand=p22.1;Gene_name=HLA-H|HCG4B,HLA-H,HCG4B;Closest_left=HCP5B;Closest_right=HLA-A;Gene_count=2;Tx=.,NR_001434,NR_001317;Tx_version=.,4,3;Tx_start=.,29855349,29892368;Tx_end=.,29858856,29894992;Overlapped_tx_length=.,3507,2624;Overlapped_CDS_length=.,0,0;Overlapped_CDS_percent=.,0,0;Frameshift=.,no,no;Exon_count=.,8,1;Location=.,txStart-txEnd,txStart-txEnd;Location2=.,UTR,UTR;Intersect_start=.,29855349,29892368;Intersect_end=.,29858856,29894992;RE_gene=GABBR1_(morbid/RE=EA_enhancer)|ZFP57_(morbid/RE=EA_enhancer+GH_enhancer+GH_promoter_enhancer);P_loss_source=morbid:HLA-H,morbid:HLA-H,.;P_loss_coord=6:29855350-29858856,6:29855350-29858856,.;po_P_gain_source=dbVar:nssv15166690|dbVar:nssv15166692|dbVar:nssv15161578|dbVar:nssv15161859|nssv15161868|dbVar:nssv15168255|dbVar:nssv15148873|dbVar:nssv15606075;po_P_gain_coord=6:60108-171054786|6:108667-170980171|6:156975-46757028|6:156976-170919482|6:165633-170919470|6:3224545-30624967|6:29455466-81447367;po_P_gain_percent=0.02|0.02|0.09|0.02|0.02|0.15|0.08;po_P_loss_source=dbVar:nssv17955655;po_P_loss_coord=6:28005013-31683185;po_P_loss_percent=1.14;B_gain_source=DDD:20149|IMH|dbVar;B_gain_coord=6:29698616-29950994|6:29722846-29947201|6:29723410-29948590|6:29733227-29961287|6:29760864-29916953|6:29762617-29919277|6:29767291-29923611|6:29767394-29923982|6:29771866-29927541|chr6:29833263-29905667|6:29840747-29917149,6:29698616-29950994|6:29722846-29947201|6:29723410-29948590|6:29733227-29961287|6:29760864-29916953|6:29762617-29919277|6:29767291-29923611|6:29767394-29923982|6:29769716-29865367|6:29771866-29927541|6:29773145-29867669|6:29777143-29871794|6:29778441-29873573|chr6:29833263-29905667|6:29840747-29917149,6:29698616-29950994|6:29722846-29947201|6:29723410-29948590|6:29733227-29961287|6:29760864-29916953|6:29762617-29919277|6:29767291-29923611|6:29767394-29923982|6:29771866-29927541|chr6:29833263-29905667|6:29840747-29917149;B_gain_AFmax=0.1073;B_loss_source=1000g|DDD:20139|DDD:20142|DDD:20149|DDD:20154|IMH|dbVar|dgv1087e199|dgv7e195|esv2761013|esv2763941|esv3608493,1000g|DDD:20139|DDD:20142|DDD:20149|DDD:20154|IMH|dbVar|dgv1087e199|dgv1726e212|dgv7e195|esv2422126|esv2761013|esv2763941|esv3608493,1000g|DDD:20139|DDD:20142|DDD:20149|DDD:20154|DDD:20157|IMH|dbVar|dgv1087e199|dgv1089e199|dgv1734e212|dgv7e195|esv2761013|esv2763941|esv3608493;B_loss_coord=6:29745199-29961072|6:29805446-29928380|6:29836637-29921127|6:29837073-29937311|6:29840747-29917149|6:29842746-29916111|6:29851122-29905999|chr6:29851172-29904515|6:29851173-29904515|6:29851173-29904515|6:29851444-29899493|6:29853315-29914786,6:29745199-29961072|6:29805446-29928380|6:29829109-29874629|6:29836637-29921127|6:29837073-29937311|6:29840747-29917149|6:29842746-29916111|6:29851122-29905999|chr6:29851172-29904515|6:29851173-29904515|6:29851173-29904515|6:29851444-29865718|6:29851444-29899493|6:29853315-29914786,6:29745199-29961072|6:29805446-29928380|6:29836637-29921127|6:29837073-29937311|6:29840747-29917149|6:29842746-29916111|6:29851122-29905999|chr6:29851172-29904515|6:29851173-29904515|6:29851173-29904515|6:29851444-29899493|6:29853315-29914786|6:29861152-29916006|6:29864510-29936194|6:29890896-29906192|6:29891102-29906000;B_loss_AFmax=0.4519;B_inv_source=IMH;B_inv_coord=6:26743912-58149585|6:26745294-58149309;B_inv_AFmax=0.3871;po_B_gain_someG_source=6:29722846-29947201_IMH|6:29733227-29961287_IMH|6:29762617-29919277_IMH|6:29767394-29923982_IMH|6:29771866-29927541_IMH|6:29777143-29871794_IMH|chr6:29833263-29905667_dbVar|;po_B_gain_someG_coord=6:29698616-29950994_IMH|6:29723410-29948590_IMH|6:29760864-29916953_IMH|6:29767291-29923611_IMH|6:29769716-29865367_IMH|6:29773145-29867669_IMH|6:29778441-29873573_IMH|6:29840747-29917149_DDD:20149;po_B_loss_someG_source=6:29805446-29928380_DDD:20142|6:29836637-29921127_esv2763941|6:29840747-29917149_DDD:20149|6:29851122-29905999_IMH|6:29851173-29904515_1000g|6:29851444-29865718_esv2422126|6:29853315-29914786_DDD:20154|6:29861152-29916006_IMH|6:29864510-29936194_dgv1734e212|6:29890896-29906192_dgv1089e199|6:29892561-29905834_HI40:ISCA-46607;po_B_loss_someG_coord=6:29745199-29961072_DDD:20139|6:29829109-29874629_dgv1726e212|6:29837073-29937311_esv2761013|6:29842746-29916111_dgv1087e199|chr6:29851172-29904515_dbVar|6:29851173-29904515_esv3608493|6:29851444-29899493_dgv7e195|6:29859518-29886164_dgv740n27|6:29864510-29889669_dgv1732e212|6:29873934-29890069_nsv515032|6:29891102-29906000_DDD:20157;GC_content_left=0.375;GC_content_right=0.51;SegDup_left=6:29842025-29863148;NCBI_gene_ID=.,3077,80868;OMIM_morbid=yes,yes,.;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(2_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5;END=29896710;SVLEN=-41839 GT 1/. 6 78979173 . G . PASS AnnotSV_ID=6_78979173_79023328_DEL_1;SV_start=78979173;Biologist_ranking=Benign;Annotation_mode=full;CytoBand=q14.1;Closest_left=MEI4;Closest_right=MIR10524;Gene_count=0;po_P_gain_source=dbVar:nssv15166690|dbVar:nssv15166692|dbVar:nssv15161859|nssv15161868|dbVar:nssv15168255|dbVar:nssv15606075|dbVar:nssv17970109|dbVar:nssv15148895;po_P_gain_coord=6:60108-171054786|6:108667-170980171|6:156976-170919482|6:165633-170919470|6:29455466-81447367|6:69938253-94379210|6:75092524-142361637;po_P_gain_percent=0.03|0.03|0.03|0.03|0.08|0.18|0.07;po_P_loss_source=dbVar:nssv17976865|dbVar:nssv15138420|dbVar:nssv17957115|dbVar:nssv17956905|dbVar:nssv15154430|dbVar:nssv16255333|dbVar:nssv15139907|dbVar:nssv16215036;po_P_loss_coord=6:64954688-79581678|6:65259549-84136510|6:70165297-79920769|6:72799055-83275894|6:73674613-84829774|6:74226560-80208037|6:76635917-93420511|6:78562076-79746800;po_P_loss_percent=0.30|0.23|0.45|0.42|0.40|0.74|0.26|3.73;B_gain_source=DDD:21366|dbVar|dgv768n27|nsv516597;B_gain_coord=chr6:78847213-79050801|chr6:78847817-79479628|6:78848098-79052702|chr6:78892808-79053430|6:78950789-79066065|chr6:78967097-79036275|6:78973202-79031742;B_gain_AFmax=0.3704;B_loss_source=1000g|DDD:21366|DDD:21369|DDD:21373|IMH|dbVar|dgv10802n54|dgv1137e199|dgv1810e212|dgv1811e212|dgv6030n100|dgv6037n100|dgv766n27|dgv767n27|dgv769n27|esv2422170|esv2760997|esv2763987|esv3609657|esv3609663|esv3890888|gnomAD-SV_v2.1_DEL_6_70839|nsv514376|nsv516597;B_loss_coord=6:78836835-79051952|6:78848098-79052702|chr6:78892808-79053430|6:78892809-79053430|6:78892809-79053430|6:78950789-79066065|6:78961945-79041809|6:78962294-79041760|6:78962541-79031742|6:78962541-79052702|6:78962582-79027502|6:78962582-79041797|chr6:78962843-79034588|6:78965526-79033478|chr6:78967097-79036275|6:78967098-79036275|6:78967098-79036275|6:78967173-79036477|chr6:78967187-79036419|6:78967187-79036419|6:78967195-79036475|6:78967195-79036497|6:78969054-79027758|6:78969066-79031970|6:78969066-79035185|6:78972098-79031153|6:78972931-79033478|6:78973202-79031742;B_loss_AFmax=0.4631;B_inv_source=IMH;B_inv_coord=6:49889718-107723757;B_inv_AFmax=0.1414;po_B_gain_someG_source=chr6:78847817-79479628_dbVar|chr6:78892808-79053430_dbVar|6:78963972-78992918_DDD:21367|6:78973202-79031742_dgv768n27|;po_B_gain_someG_coord=chr6:78847213-79050801_dbVar|6:78848098-79052702_nsv516597|6:78950789-79066065_DDD:21366|chr6:78967097-79036275_dbVar|6:78999918-79033124_DDD:21375;po_B_loss_someG_source=6:78848098-79052702_nsv516597|6:78892809-79053430_1000g|6:78950789-79066065_DDD:21366|6:78962294-79041760_dgv1810e212|6:78962541-79052702_dgv767n27|6:78962582-79041797_dgv6030n100|6:78965526-79033478_esv3890888|6:78967098-79036275_1000g|6:78967173-79036477_IMH|6:78967187-79036419_gnomAD-SV_v2.1_DEL_6_70839|6:78967195-79036497_dgv1137e199|6:78969066-79031970_DDD:21373|6:78972098-79031153_nsv514376|6:78973202-79031742_dgv769n27;po_B_loss_someG_coord=6:78836835-79051952_esv2760997|chr6:78892808-79053430_dbVar|6:78892809-79053430_esv3609657|6:78961945-79041809_esv2763987|6:78962541-79031742_dgv766n27|6:78962582-79027502_dgv1811e212|chr6:78962843-79034588_dbVar|chr6:78967097-79036275_dbVar|6:78967098-79036275_esv3609663|chr6:78967187-79036419_dbVar|6:78967195-79036475_DDD:21369|6:78969054-79027758_dgv6037n100|6:78969066-79035185_esv2422170|6:78972931-79033478_dgv10802n54;GC_content_left=0.325;GC_content_right=0.27;AnnotSV_ranking_score=-1.6;AnnotSV_ranking_criteria=1B_(cf_Gene_count,_RE_gene,_-0.60)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(0_gene,_+0.00)|5F_(+0.00);ACMG_class=1;END=79023328;SVLEN=-44155 GT 1/. -7 33397468 . C . PASS AnnotSV_ID=7_33397468_33397607_DEL_1;SV_start=33397468;Biologist_annotation=BBS9_inframe;Biologist_ranking=Pathogenic;Annotation_mode=full,split;CytoBand=p14.3;Gene_name=BBS9;Closest_left=RP9;Closest_right=FLJ20712;Gene_count=1;Tx=.,NM_001348036;Tx_version=.,1;Tx_start=.,33168896;Tx_end=.,33645680;Overlapped_tx_length=.,140;Overlapped_CDS_length=.,140;Overlapped_CDS_percent=.,5;Frameshift=.,yes;Exon_count=.,23;Location=.,exon16-intron16;Location2=.,CDS;Dist_nearest_SS=.,0;Nearest_SS_type=.,5';Intersect_start=.,33397467;Intersect_end=.,33397607;po_P_gain_source=dbVar:nssv15777247|dbVar:nssv15168013|dbVar:nssv15161666|nssv15161679|dbVar:nssv15168014|dbVar:nssv15161745|dbVar:nssv15161726|dbVar:nssv17970196|dbVar:nssv15161869|dbVar:nssv15161632|dbVar:nssv17970205|dbVar:nssv15133397|dbVar:nssv15154527|dbVar:nssv15146465;po_P_gain_coord=7:10366-159119707|7:10705-159122532|7:43362-159119707|7:44936-159126310|7:54186-37129317|7:54186-41915483|7:10745751-35305167|7:11048841-52863626|7:11562625-36395416|7:27507833-39072473|7:30460550-34600277|7:30463887-43470805|7:33367925-61831899;po_P_gain_percent=0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00;po_P_loss_phen=Bardet-Biedl_syndrome_9,_615986_(3)_AR;po_P_loss_source=dbVar:nssv15161318|dbVar:nssv17976840|dbVar:nssv18329275|dbVar:nssv15138559|dbVar:nssv15147510|dbVar:nssv15148432|morbid:BBS9|dbVar:nssv17971381|dbVar:nssv18790316|dbVar:nssv18790317;po_P_loss_coord=7:54186-159075079|7:25451741-33864069|7:27133787-34466477|7:30977986-33440608|7:32718004-41084581|7:32911004-44576005|7:33169176-33675379|7:33296829-33427776|7:33376034-33427776|7:33388661-33397627;po_P_loss_percent=0.00|0.00|0.00|0.01|0.00|0.00|0.03|0.11|0.27|1.56;P_snvindel_nb=1;P_snvindel_phen=Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_9;B_gain_source=dbVar;B_gain_coord=chr7:32726588-35070337;B_gain_AFmax=0.01;B_inv_source=IMH;B_inv_coord=7:23891013-65526751|7:33013222-55782515;B_inv_AFmax=0.381;po_B_gain_someG_coord=chr7:32726588-35070337_dbVar;GC_content_left=0.325;GC_content_right=0.37;DDD_HI_percent=17.13;ExAC_delZ=-2.43637392050626;ExAC_dupZ=-2.53125239294469;ExAC_cnvZ=-2.47162789907313;ExAC_synZ=-0.989035894351638;ExAC_misZ=-1.15018109964609;GenCC_disease=.,Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_9;GenCC_moi=.,AR;GenCC_classification=.,Definitive|Strong|Supportive;GenCC_pmid=.,16380913|20177705|20301537[PMID]|21209035|22353939|250490|251248|268436|282550;NCBI_gene_ID=.,27241;OMIM_ID=607968;OMIM_phenotype=.,Bardet-Biedl_syndrome_9,_615986_(3)_AR;OMIM_inheritance=.,AR;OMIM_morbid=yes;LOEUF_bin=4;GnomAD_pLI=4.2117e-17;ExAC_pLI=6.3752e-10;AnnotSV_ranking_score=0.9;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2E-1_(BBS9,_+0.90)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=4,full=4;END=33397607;SVLEN=-139 GT 1/. +7 33397468 . C . PASS AnnotSV_ID=7_33397468_33397607_DEL_1;SV_start=33397468;Biologist_annotation=BBS9_inframe;Biologist_ranking=Pathogenic;Annotation_mode=full,split;CytoBand=p14.3;Gene_name=BBS9;Closest_left=RP9;Closest_right=FLJ20712;Gene_count=1;Tx=.,NM_001348036;Tx_version=.,1;Tx_start=.,33168896;Tx_end=.,33645680;Overlapped_tx_length=.,140;Overlapped_CDS_length=.,140;Overlapped_CDS_percent=.,5;Frameshift=.,yes;Exon_count=.,23;Location=.,exon16-intron16;Location2=.,CDS;Dist_nearest_SS=.,0;Nearest_SS_type=.,5';Intersect_start=.,33397467;Intersect_end=.,33397607;po_P_gain_source=dbVar:nssv15777247|dbVar:nssv15168013|dbVar:nssv15161666|nssv15161679|dbVar:nssv15168014|dbVar:nssv15161745|dbVar:nssv15161726|dbVar:nssv17970196|dbVar:nssv15161869|dbVar:nssv15161632|dbVar:nssv17970205|dbVar:nssv15133397|dbVar:nssv15154527|dbVar:nssv15146465;po_P_gain_coord=7:10366-159119707|7:10705-159122532|7:43362-159119707|7:44936-159126310|7:54186-37129317|7:54186-41915483|7:10745751-35305167|7:11048841-52863626|7:11562625-36395416|7:27507833-39072473|7:30460550-34600277|7:30463887-43470805|7:33367925-61831899;po_P_gain_percent=0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00;po_P_loss_phen=Bardet-Biedl_syndrome_9,_615986_(3)_AR;po_P_loss_source=dbVar:nssv15161318|dbVar:nssv17976840|dbVar:nssv18329275|dbVar:nssv15138559|dbVar:nssv15147510|dbVar:nssv15148432|morbid:BBS9|dbVar:nssv17971381|dbVar:nssv18790316|dbVar:nssv18790317;po_P_loss_coord=7:54186-159075079|7:25451741-33864069|7:27133787-34466477|7:30977986-33440608|7:32718004-41084581|7:32911004-44576005|7:33169176-33675379|7:33296829-33427776|7:33376034-33427776|7:33388661-33397627;po_P_loss_percent=0.00|0.00|0.00|0.01|0.00|0.00|0.03|0.11|0.27|1.56;P_snvindel_nb=1;P_snvindel_phen=Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_9;B_gain_source=dbVar;B_gain_coord=chr7:32726588-35070337;B_gain_AFmax=0.01;B_inv_source=IMH;B_inv_coord=7:23891013-65526751|7:33013222-55782515;B_inv_AFmax=0.381;po_B_gain_someG_coord=chr7:32726588-35070337_dbVar;GC_content_left=0.325;GC_content_right=0.37;DDD_HI_percent=17.13;ExAC_delZ=-2.43637392050626;ExAC_dupZ=-2.53125239294469;ExAC_cnvZ=-2.47162789907313;ExAC_synZ=-0.989035894351638;ExAC_misZ=-1.15018109964609;GenCC_disease=.,Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_9|ciliopathy;GenCC_moi=.,AR;GenCC_classification=.,Definitive|Strong|Supportive;GenCC_pmid=.,16380913|20177705|20301537[PMID]|21209035|22353939|250490|251248|268436|282550;NCBI_gene_ID=.,27241;OMIM_ID=607968;OMIM_phenotype=.,Bardet-Biedl_syndrome_9,_615986_(3)_AR;OMIM_inheritance=.,AR;OMIM_morbid=yes;LOEUF_bin=4;GnomAD_pLI=4.2117e-17;ExAC_pLI=6.3752e-10;AnnotSV_ranking_score=0.9;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2E-1_(BBS9,_+0.90)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=4,full=4;END=33397607;SVLEN=-139 GT 1/. 7 38296177 . G . PASS AnnotSV_ID=7_38296177_38352444_DEL_1;SV_start=38296177;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=p14.1;Gene_name=TARP;Closest_left=STARD3NL;Closest_right=TRG-AS1;Gene_count=1;Tx=.,NM_001003806;Tx_version=.,2;Tx_start=.,38299243;Tx_end=.,38313237;Overlapped_tx_length=.,13994;Overlapped_CDS_length=.,336;Overlapped_CDS_percent=.,100;Frameshift=.,no;Exon_count=.,4;Location=.,txStart-txEnd;Location2=.,5'UTR-3'UTR;Intersect_start=.,38299243;Intersect_end=.,38313237;RE_gene=SFRP4_(morbid/RE=ABC_enhancer)|VPS41_(morbid/RE=ABC_enhancer);po_P_gain_source=dbVar:nssv15777247|dbVar:nssv15168013|dbVar:nssv15161666|nssv15161679|dbVar:nssv15168014|dbVar:nssv15161726|dbVar:nssv15161869|dbVar:nssv17970205|dbVar:nssv15154527|dbVar:nssv15146465|dbVar:nssv15166972;po_P_gain_coord=7:10366-159119707|7:10705-159122532|7:43362-159119707|7:44936-159126310|7:54186-41915483|7:11048841-52863626|7:27507833-39072473|7:30463887-43470805|7:33367925-61831899|7:37213109-40255122;po_P_gain_percent=0.04|0.04|0.04|0.04|0.13|0.13|0.49|0.43|0.20|1.85;po_P_loss_source=dbVar:nssv15161318|dbVar:nssv15147510|dbVar:nssv15148432|dbVar:nssv15147453|dbVar:nssv15145850|dbVar:nssv15148950;po_P_loss_coord=7:54186-159075079|7:32718004-41084581|7:32911004-44576005|7:35500387-42053399|7:37343083-48700334|7:38217602-45343699;po_P_loss_percent=0.04|0.67|0.48|0.86|0.50|0.79;B_gain_source=dgv1888e212;B_gain_coord=7:38286516-38394857;B_gain_AFmax=0.01;B_loss_source=.,dbVar;B_loss_coord=.,chr7:38295995-38331222;B_loss_AFmax=.,0.01;B_inv_source=IMH;B_inv_coord=7:23891013-65526751|7:33013222-55782515;B_inv_AFmax=0.381;po_B_gain_someG_source=7:38286516-38394857_dgv1888e212|chr7:38288427-38299834_dbVar|chr7:38292243-38299454_dbVar|chr7:38292598-38299075_dbVar|chr7:38292954-38305344_dbVar|chr7:38296039-38299834_dbVar|chr7:38300094-38304944_dbVar|chr7:38300094-38309816_dbVar|chr7:38301678-38304944_dbVar|chr7:38304944-38313034_dbVar|chr7:38305344-38309816_dbVar|chr7:38315596-38318010_dbVar|chr7:38315847-38318271_dbVar|chr7:38316099-38318010_dbVar;po_B_gain_someG_coord=7:38283523-38309532_DDD:23873|chr7:38288205-38309816_dbVar|chr7:38292243-38297557_dbVar|chr7:38292243-38300094_dbVar|chr7:38292954-38297557_dbVar|chr7:38296039-38299075_dbVar|chr7:38299075-38299834_dbVar|chr7:38300094-38305344_dbVar|chr7:38301678-38302623_dbVar|chr7:38302623-38304944_dbVar|chr7:38305144-38312727_dbVar|chr7:38315596-38316099_dbVar|chr7:38315771-38317054_dbVar|chr7:38315946-38318532_dbVar;po_B_loss_someG_source=chr7:38309816-38312727_dbVar|chr7:38312421-38313034_dbVar|chr7:38318010-38318532_dbVar|chr7:38321639-38325867_dbVar|chr7:38325667-38325867_dbVar|chr7:38325667-38328166_dbVar|chr7:38331989-38335441_dbVar|chr7:38331989-38336295_dbVar|chr7:38348388-38349972_dbVar;po_B_loss_someG_coord=chr7:38295995-38331222_dbVar|chr7:38309816-38313034_dbVar|chr7:38315910-38331224_dbVar|chr7:38321639-38325667_dbVar|chr7:38321639-38326916_dbVar|chr7:38325667-38327016_dbVar|chr7:38325867-38328166_dbVar|chr7:38331989-38335610_dbVar|chr7:38335441-38335779_dbVar;GC_content_left=0.365;GC_content_right=0.32;Repeat_coord_left=7:38296252-38296527;Repeat_type_left=AluSx;SegDup_left=7:38284220-38298557;AnnotSV_ranking_score=0;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|2G_(cf_po_B_loss_someG_source,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=3,full=3;END=38352444;SVLEN=-56267 GT 1/. -7 72726579 . T . PASS AnnotSV_ID=7_72726579_74139390_DEL_1;SV_start=72726579;Biologist_annotation=Williams_syndrom;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q11.23;Gene_name=TRIM50|FKBP6|FZD9|BAZ1B|BCL7B|TBL2|MLXIPL|VPS37D|DNAJC30|BUD23|STX1A|MIR4284|ABHD11-AS1|ABHD11|CLDN3|CLDN4|METTL27|TMEM270|ELN|LIMK1|EIF4H|MIR590|LAT2|RFC2|CLIP2|GTF2IRD1|MIR10525|GTF2I|GTF2I-AS1,TRIM50,FKBP6,FZD9,BAZ1B,BCL7B,TBL2,MLXIPL,VPS37D,DNAJC30,BUD23,STX1A,MIR4284,ABHD11-AS1,ABHD11,CLDN3,CLDN4,METTL27,TMEM270,ELN,LIMK1,EIF4H,MIR590,LAT2,RFC2,CLIP2,GTF2IRD1,MIR10525,GTF2I,GTF2I-AS1;Closest_left=NSUN5;Closest_right=NCF1;Gene_count=29;Tx=.,NM_178125,NM_003602,NM_003508,NM_001370402,NM_001301061,NM_012453,NM_032951,NM_001077621,NM_032317,NM_001202560,NM_004603,NR_036247,NR_026690,NM_148912,NM_001306,NM_001305,NM_152559,NM_182504,NM_001278939,NM_002314,NM_022170,NR_030321,NM_014146,NM_181471,NM_003388,NM_001199207,NR_162116,NM_032999,NR_110044;Tx_version=.,3,5,3,1,2,4,3,2,3,3,4,1,1,4,4,5,3,4,2,4,2,1,4,3,5,2,1,4,1;Tx_start=.,72726531,72742163,72848107,72854735,72950685,72981866,73007531,73082160,73095247,73097926,73113539,73125646,73149398,73150423,73183326,73245325,73248919,73275488,73442502,73498133,73588685,73605527,73624335,73645831,73703736,73868235,74010294,74072043,74103270;Tx_end=.,72742085,72772634,72850450,72936623,72972020,72992909,73038852,73086440,73097783,73112542,73133999,73125727,73150330,73153132,73184600,73247020,73256846,73280220,73484237,73536855,73611426,73605624,73644164,73668729,73820265,74016931,74010353,74175022,74143256;Overlapped_tx_length=.,15507,30471,2343,81888,21335,11043,31321,4280,2536,14616,20460,81,932,2709,1274,1695,7927,4732,41735,38722,22741,97,19829,22898,116529,148696,59,67347,36120;Overlapped_CDS_length=.,1464,984,1776,4452,642,1344,2559,756,681,897,867,0,0,921,663,630,738,798,2361,1944,747,0,732,1065,3141,2931,0,943,0;Overlapped_CDS_percent=.,100,100,84,100,100,100,100,100,95,100,100,0,0,100,75,42,100,100,100,100,100,0,100,100,100,100,0,31,0;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,yes,no;Exon_count=.,7,9,1,19,7,7,17,4,1,13,10,1,4,6,1,1,6,3,34,16,7,1,13,11,17,27,1,35,4;Location=.,txStart-exon7,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-intron12,intron2-txEnd;Location2=.,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-CDS,UTR;Dist_nearest_SS=.,928,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3733,2349;Nearest_SS_type=.,3',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3',5';Intersect_start=.,72726578,72742163,72848107,72854735,72950685,72981866,73007531,73082160,73095247,73097926,73113539,73125646,73149398,73150423,73183326,73245325,73248919,73275488,73442502,73498133,73588685,73605527,73624335,73645831,73703736,73868235,74010294,74072043,74103270;Intersect_end=.,72742085,72772634,72850450,72936623,72972020,72992909,73038852,73086440,73097783,73112542,73133999,73125727,73150330,73153132,73184600,73247020,73256846,73280220,73484237,73536855,73611426,73605624,73644164,73668729,73820265,74016931,74010353,74139390,74139390;RE_gene=ACOX1_(morbid/RE=mTL_miRNA)|ACSL6_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AGTPBP1_(morbid/RE=mTL_miRNA)|AKR1D1_(morbid/RE=mTL_miRNA)|ALDH6A1_(morbid/RE=mTL_miRNA)|ALDOA_(morbid/RE=mTL_miRNA)|APAF1_(morbid/RE=mTL_miRNA)|APC_(HI=3/morbid/RE=mTL_miRNA)|APTX_(morbid/RE=mTL_miRNA)|ARSK_(morbid/RE=mTL_miRNA)|ATL3_(morbid/RE=mTL_miRNA)|ATP13A3_(morbid/RE=mTL_miRNA)|ATP6V0A2_(morbid/RE=mTL_miRNA)|ATP6V1A_(morbid/RE=mTL_miRNA)|ATXN1_(morbid/RE=mTL_miRNA)|B3GNT2_(morbid/RE=mTL_miRNA)|BACH1_(morbid/RE=mTL_miRNA)|BTG2_(morbid/RE=mTL_miRNA)|BVES_(morbid/RE=mTL_miRNA)|C3_(morbid/RE=mTL_miRNA)|CAPN15_(morbid/RE=mTL_miRNA)|CASP10_(morbid/RE=mTL_miRNA)|CBX4_(morbid/RE=mTL_miRNA)|CD3D_(morbid/RE=mTL_miRNA)|CDC73_(HI=3/morbid/RE=mTL_miRNA)|CDKN1B_(HI=3/morbid/RE=mTL_miRNA)|CHRNB1_(morbid/RE=mTL_miRNA)|CISD2_(morbid/RE=mTL_miRNA)|CITED2_(morbid/RE=mTL_miRNA)|CLEC7A_(morbid/RE=mTL_miRNA)|CLN8_(morbid/RE=mTL_miRNA)|COL18A1_(morbid/RE=mTL_miRNA)|COX20_(morbid/RE=mTL_miRNA)|COX6B1_(morbid/RE=mTL_miRNA)|CPE_(morbid/RE=mTL_miRNA)|CPT1A_(morbid/RE=mTL_miRNA)|CRCP_(morbid/RE=mTL_miRNA)|CRIPT_(morbid/RE=mTL_miRNA)|CRTAP_(morbid/RE=mTL_miRNA)|CSNK1D_(morbid/RE=mTL_miRNA)|CTSB_(morbid/RE=mTL_miRNA)|CYCS_(morbid/RE=mTL_miRNA)|CYP51A1_(morbid/RE=mTL_miRNA)|DARS2_(morbid/RE=mTL_miRNA)|DBR1_(morbid/RE=mTL_miRNA)|DNA2_(morbid/RE=mTL_miRNA)|DNAAF3_(morbid/RE=mTL_miRNA)|DNAJB13_(morbid/RE=mTL_miRNA)|DNAJC3_(morbid/RE=mTL_miRNA)...;P_gain_source=dbVar:nssv15146175|nssv15148276|dbVar:nssv15146450|dbVar:nssv15147327|dbVar:nssv17955524|dbVar:nssv17976654;P_gain_coord=7:72766114-74133473|7:72766313-74133327|7:72766314-74042787|7:72766314-74133332|7:73944169-74138459;P_loss_phen=Cutis_laxa,_AD,_123700_(3)_AD|Supravalvar_aortic_stenosis,_185500_(3)_AD|Leber-like_hereditary_optic_neuropathy,_AR_1,_619382_(3)_AR|Spermatogenic_failure_77,_620103_(3)_AR,.,Spermatogenic_failure_77,_620103_(3)_AR,.,.,.,.,.,.,Leber-like_hereditary_optic_neuropathy,_AR_1,_619382_(3)_AR,.,.,.,.,.,.,.,.,.,Cutis_laxa,_AD,_123700_(3)_AD|Supravalvar_aortic_stenosis,_185500_(3)_AD,.,.,.,.,.,.,.,.,.,.;P_loss_source=HI3:ELN|dbVar:nssv15128343|dbVar:nssv15128578|dbVar:nssv15130113|dbVar:nssv15130169|dbVar:nssv15140244|dbVar:nssv15141480|dbVar:nssv15145649|nssv15146804|nssv15153080|dbVar:nssv15146451|dbVar:nssv15146687|dbVar:nssv15146708|dbVar:nssv15151951|nssv15605841|dbVar:nssv15167740|dbVar:nssv15770120|dbVar:nssv16208140|dbVar:nssv16213814|dbVar:nssv16214480|dbVar:nssv16214500|dbVar:nssv17172745|dbVar:nssv17172746|dbVar:nssv17955650|dbVar:nssv17971140|dbVar:nssv18786274|dbVar:nssv18791884|dbVar:nssv18791887|morbid:DNAJC30|morbid:ELN|morbid:FKBP6,.,morbid:FKBP6,.,.,.,.,.,.,morbid:DNAJC30,.,.,.,.,.,.,.,.,.,dbVar:nssv15128578|dbVar:nssv15770120|dbVar:nssv16214480|dbVar:nssv16214500|dbVar:nssv17172746|dbVar:nssv17971140|dbVar:nssv18786274|dbVar:nssv18791884|dbVar:nssv18791887|morbid:ELN,.,.,.,.,.,.,.,.,.,.;P_loss_coord=7:72726579-74139390|7:72742164-72772634|7:72766114-74133473|7:72766313-74133327|7:72766314-74133332|7:72772523-74133319|7:72996565-73597315|7:73023063-73524207|7:73095248-73097783|7:73150890-73604636|7:73187644-73501025|7:73442120-73484237|7:73442459-73483087|7:73442499-73442619|7:73442499-73483050|7:73442503-73484237|7:73442509-73483040|7:73442519-73449764|7:73442519-73483030|7:73444331-73476493|7:73449675-73483050|7:73461986-73483030|7:73470471-73498327|7:73471703-73483040|7:73482968-73483050|7:73482988-73484237|7:73791726-74133273,.,7:72742164-72772634,.,.,.,.,.,.,7:73095248-73097783,.,.,.,.,.,.,.,.,.,7:73442503-73484237|7:73442509-73483040|7:73442519-73449764|7:73442519-73483030|7:73444331-73476493|7:73449675-73483050|7:73461986-73483030|7:73471703-73483040|7:73482968-73483050|7:73482988-73484237,.,.,.,.,.,.,.,.,.,.;po_P_gain_phen=7q11.23_recurrent_(Williams-Beuren_syndrome)_region_(includes_ELN);po_P_gain_source=dbVar:nssv15777247|dbVar:nssv15168013|dbVar:nssv15161666|nssv15161679|dbVar:nssv15168014|dbVar:nssv15146013|dbVar:nssv15146778|dbVar:nssv15147714|dbVar:nssv15147012|dbVar:nssv15147013|dbVar:nssv15755212|dbVar:nssv15147334|dbVar:nssv15151509|dbVar:nssv15154519|dbVar:nssv15152109|dbVar:nssv15153678|dbVar:nssv15148173|dbVar:nssv15149887|dbVar:nssv15147399|dbVar:nssv15148904|dbVar:nssv15174166|dbVar:nssv15128409|dbVar:nssv15150793|dbVar:nssv16254014|dbVar:nssv15148877|dbVar:nssv18830985|dbVar:nssv15147014|dbVar:nssv15149513|dbVar:nssv15146773|dbVar:nssv15151227|dbVar:nssv15147017|dbVar:nssv15146395|dbVar:nssv15147458|dbVar:nssv15126184|dbVar:nssv17976854|dbVar:nssv15150228|dbVar:nssv15147556|dbVar:nssv15146449|dbVar:nssv15151508|dbVar:nssv15150733|dbVar:nssv15154518|dbVar:nssv17955880|dbVar:nssv18830970|dbVar:nssv15146933|dbVar:nssv16215249|dbVar:nssv15167739|TS3:ISCA-37392|dbVar:nssv15148970;po_P_gain_coord=7:10366-159119707|7:10705-159122532|7:43362-159119707|7:44936-159126310|7:62437464-75044630|7:71644078-78793387|7:71968213-74133332|7:72196406-74991125|7:72233836-74285345|7:72364527-73780265|7:72408603-74193374|7:72576873-74175429|7:72577022-74147166|7:72577022-74197846|7:72577022-74859638|7:72589516-74154603|7:72589516-74165401|7:72606410-74193403|7:72606410-74300084|7:72606451-74153206|7:72650008-74188572|7:72659675-74143240|7:72659675-74164894|7:72663963-74193403|7:72664462-74162586|7:72665463-74139573|7:72677174-74143140|7:72677302-74143060|7:72677302-74143240|7:72679398-74139573|7:72683245-74267189|7:72685735-74142327|7:72685764-74189674|7:72686959-74155067|7:72692113-74154497|7:72700128-74146858|7:72700415-74139573|7:72700525-74069858|7:72700525-74142256|7:72701019-74143240|7:72717346-74133310|7:72718278-74142256|7:72718279-74140708|7:72722982-74141840|7:72743984-74145064|7:72744456-74142510|7:72766314-74481540;po_P_gain_percent=0.89|0.89|0.89|0.89|11.21|19.76|64.97|50.55|68.87|74.43|79.16|88.38|89.98|87.17|61.89|90.27|89.65|89.02|83.42|91.34|91.83|95.23|93.86|92.37|94.31|95.84|96.37|96.39|96.38|96.76|89.20|96.99|93.94|96.23|96.61|97.66|98.17|98.10|97.99|97.96|99.35|99.22|99.32|99.57|99.60|99.78|80.05;po_P_loss_phen=7q11.23_recurrent_(Williams-Beuren_syndrome)_region_(includes_ELN);po_P_loss_source=dbVar:nssv15161318|dbVar:nssv15148211|dbVar:nssv15147057|dbVar:nssv15147200|dbVar:nssv16255682|dbVar:nssv15146320|dbVar:nssv15146676|dbVar:nssv16867365|dbVar:nssv15167734|dbVar:nssv15146211|dbVar:nssv16254015|dbVar:nssv15151112|dbVar:nssv15145801|dbVar:nssv15152099|dbVar:nssv17977008|dbVar:nssv15151511|dbVar:nssv17977009|dbVar:nssv15145887|dbVar:nssv15147427|dbVar:nssv15153677|dbVar:nssv15154521|dbVar:nssv16208139|dbVar:nssv15145827|dbVar:nssv15148206|dbVar:nssv15151289|dbVar:nssv18330757|dbVar:nssv15125131|dbVar:nssv17977011|dbVar:nssv15167735|dbVar:nssv15148192|dbVar:nssv15167736|dbVar:nssv15168977|dbVar:nssv18330770|dbVar:nssv16215159|dbVar:nssv15129678|dbVar:nssv15147158|dbVar:nssv15606134|dbVar:nssv15145898|dbVar:nssv15151092|dbVar:nssv15755220|dbVar:nssv17977017|dbVar:nssv15147160|dbVar:nssv15147159|dbVar:nssv15145802|dbVar:nssv15147457|dbVar:nssv15148226|dbVar:nssv15147515|dbVar:nssv15147502|dbVar:nssv15148195|dbVar:nssv15147550|dbVar:nssv17977015|dbVar:nssv15605840|dbVar:nssv17977014|dbVar:nssv15149859|dbVar:nssv17977016|dbVar:nssv15150016|dbVar:nssv15146951|dbVar:nssv16297072|dbVar:nssv18830737|dbVar:nssv15154517|nssv17977012|dbVar:nssv17977007|dbVar:nssv15146637|dbVar:nssv15149107|dbVar:nssv15150231|dbVar:nssv15150699|dbVar:nssv15150637|dbVar:nssv15151346|dbVar:nssv15148257|nssv17977121|dbVar:nssv15150643|dbVar:nssv15149860|dbVar:nssv15151090|dbVar:nssv18329614|dbVar:nssv18330419|dbVar:nssv18330223|dbVar:nssv15167737|dbVar:nssv15605774|dbVar:nssv8640006|dbVar:nssv15167738|dbVar:nssv15147726|dbVar:nssv15755221|HI3:ISCA-37392|dbVar:nssv15605838|dbVar:nssv15605839|dbVar:nssv15147324|dbVar:nssv15147329|dbVar:nssv15145670|dbVar:nssv15145679|nssv15146800|dbVar:nssv15146612|dbVar:nssv17977013|dbVar:nssv15124428|dbVar:nssv15776001|dbVar:nssv15120782|dbVar:nssv15148954|dbVar:nssv15147202;po_P_loss_coord=7:54186-159075079|7:62196743-75061986|7:68133295-72806397|7:68847340-77453149|7:68977231-73939510|7:70690331-81364973|7:70926113-72806397|7:71847969-73391310|7:72305672-74196360|7:72401087-74285345|7:72403118-76709600|7:72456605-76007380|7:72507130-74142327|7:72536981-74629034|7:72589196-74225562|7:72589516-74386749|7:72589516-74629034|7:72606410-74193403|7:72606410-74285345|7:72608515-74386749|7:72612043-74574641|7:72621723-76007380|7:72636007-74339014|7:72637825-74203685|7:72643632-74142190|7:72643633-74143060|7:72644632-74144422|7:72645014-74142190|7:72650107-74138603|7:72650121-74142256|7:72650266-74138603|7:72653307-74134911|7:72654783-74142190|7:72657229-74160300|7:72677238-74144422|7:72681398-74137354|7:72682339-74141250|7:72685735-74142327|7:72691243-74142190|7:72699383-74142329|7:72700128-74142190|7:72700415-74122179|7:72700415-74137354|7:72700415-74139573|7:72700415-74142327|7:72700415-74172913|7:72700415-74193403|7:72700415-74285345|7:72700511-74142190|7:72700525-74141494|7:72700943-74142190|7:72700997-74142190|7:72700997-74142256|7:72701019-74141493|7:72701085-74142190|7:72708238-74133273|7:72708238-74339044|7:72717370-74142224|7:72717396-74173168|7:72718124-74141784|7:72718124-74142190|7:72718253-74133273|7:72718253-74133332|7:72718278-73898515|7:72718278-74141494|7:72718278-74141603|7:72718278-74141746|7:72718278-74142190|7:72718278-74146858|7:72718278-74259899|7:72718278-74287433|7:72718279-74142256|7:72718279-74143060|7:72718279-74143240|7:72719387-74218536|7:72721450-73959106|7:72722982-74141840|7:72722982-74200092|7:72722982-74217390|7:72726591-74142329|7:72744456-74142510|7:72744495-74339044|7:72744495-76038818|7:72766313-74193397|7:72766313-74339030|7:72766314-74285345|7:72766314-74339044|7:72766314-76351578|7:72921551-74145628|7:73591994-75914797|7:73799887-75388031|7:73992745-74991125|7:73992745-81661058|7:73992745-83618176;po_P_loss_percent=0.89|10.98|1.71|16.42|24.44|13.24|4.25|43.07|74.72|74.98|32.81|39.79|86.40|67.53|86.34|78.61|69.27|89.02|84.15|79.45|71.99|41.73|82.96|90.23|94.28|94.22|94.20|94.37|94.86|94.68|94.87|95.05|94.98|93.99|96.29|96.90|96.84|96.99|97.37|97.91|97.97|98.16|98.18|98.17|97.98|95.95|94.63|89.14|98.00|98.05|98.03|98.03|98.03|98.08|98.04|98.71|86.63|99.15|97.05|99.24|99.21|99.41|99.41|99.30|99.27|99.26|99.25|99.22|98.90|91.64|90.04|99.22|99.16|99.15|94.24|99.59|99.57|95.65|94.54|99.79|99.78|87.48|42.34|96.22|87.31|90.39|87.31|38.30|99.49|23.57|21.38|14.69|1.91|1.52;P_snvindel_nb=104,.,1,.,.,.,.,.,.,1,.,1,.,.,.,.,.,.,.,101,.,.,.,.,.,.,.,.,.,.;P_snvindel_phen=Autism|Cutis_laxa,_autosomal_dominant_1|DNAJC30-associated_disorder|ELN-related_condition|Inborn_genetic_diseases|Intellectual_disability|Leber_hereditary_optic_neuropathy,_autosomal_recessive|Leber_optic_atrophy,_susceptibility_to|Male_infertility|Spermatogenic_failure_77|Supravalvar_aortic_stenosis|Williams_syndrome,.,Male_infertility|Spermatogenic_failure_77,.,.,.,.,.,.,DNAJC30-associated_disorder|Leber_hereditary_optic_neuropathy,_autosomal_recessive|Leber_optic_atrophy,_susceptibility_to,.,Autism|Intellectual_disability,.,.,.,.,.,.,.,Cutis_laxa,_autosomal_dominant_1|ELN-related_condition|Inborn_genetic_diseases|Supravalvar_aortic_stenosis|Williams_syndrome,.,.,.,.,.,.,.,.,.,.;B_gain_source=.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar;B_gain_coord=.,chr7:72708999-74058000|chr7:72719000-72789000,chr7:72708999-74058000|chr7:72719000-72789000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000|chr7:74008364-74140675,chr7:74008364-74140675,chr7:74008364-74140675;B_gain_AFmax=.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01;B_loss_source=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,.,.,.,.,.,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.;B_loss_coord=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr7:73157999-73206000,.,.,.,.,.,chr7:73504792-73813060,chr7:73504792-73813060,chr7:73504792-73813060,chr7:73504792-73813060,.,.,.,.,.;B_loss_AFmax=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.01,.,.,.,.,.,0.01,0.01,0.01,0.01,.,.,.,.,.;B_inv_source=IMH;B_inv_coord=7:66631329-143298938|7:67635774-98083201;B_inv_AFmax=0.5;po_B_gain_someG_source=chr7:72708999-74058000_dbVar|chr7:72726800-72740359_dbVar|chr7:72745614-72754503_dbVar|chr7:72774000-72782000_dbVar|chr7:72787000-72831100_dbVar|chr7:72816500-72830000_dbVar|chr7:72998471-72999058_dbVar|chr7:73055007-73067523_dbVar|chr7:73197500-73235415_dbVar|chr7:73225900-73232279_dbVar|chr7:73276238-73276581_dbVar|chr7:73299213-73301668_dbVar|chr7:73393992-73394499_dbVar|chr7:73499000-73506000_dbVar|chr7:73546829-73546880_dbVar|chr7:73583293-73584013_dbVar|chr7:73658948-73659640_dbVar|chr7:73674630-73681367_dbVar|chr7:73787553-73825589_dbVar|chr7:73831000-73836000_dbVar...;po_B_gain_someG_coord=chr7:72400589-72727075_dbVar|chr7:72719000-72789000_dbVar|chr7:72729000-72748000_dbVar|chr7:72767887-72767960_dbVar|chr7:72783612-72807457_dbVar|chr7:72811900-72819000_dbVar|chr7:72970000-72975000_dbVar|chr7:73014621-73015093_dbVar|chr7:73056768-73064674_dbVar|chr7:73220636-73223168_dbVar|chr7:73267370-73271012_dbVar|chr7:73283850-73286300_dbVar|chr7:73331000-73347000_dbVar|chr7:73432596-73433429_dbVar|chr7:73542648-73543250_dbVar|chr7:73581149-73582488_dbVar|chr7:73628409-73628785_dbVar|chr7:73660000-73666300_dbVar|chr7:73686041-73691825_dbVar|chr7:73815308-73815574_dbVar...;po_B_loss_someG_source=chr7:72788610-72788928_dbVar|chr7:72792927-72794734_dbVar|chr7:72807457-72811747_dbVar|chr7:72809374-72811765_dbVar|chr7:72831507-72833102_dbVar|chr7:72831655-72833172_dbVar|7:72859067-72859930_DDD:24502|chr7:72859126-72859948_dbVar|chr7:72958486-72958582_dbVar|chr7:72976072-72983729_dbVar|chr7:73003322-73003446_dbVar|chr7:73047101-73047474_dbVar|chr7:73062999-73081000_dbVar|chr7:73072977-73073093_dbVar|chr7:73106347-73106427_dbVar|chr7:73157999-73206000_dbVar|chr7:73190196-73190548_dbVar|chr7:73196830-73198271_dbVar|chr7:73211482-73211654_dbVar|chr7:73223050-73223264_dbVar...;po_B_loss_someG_coord=chr7:72783921-72784587_dbVar|chr7:72790491-72790586_dbVar|chr7:72806431-72813279_dbVar|chr7:72809373-72811754_dbVar|7:72809386-72811787_DDD:24500|7:72831554-72833141_DDD:24501|chr7:72850871-72854146_dbVar|chr7:72859093-72859952_dbVar|chr7:72955017-72955274_dbVar|chr7:72962422-72963182_dbVar|chr7:73002815-73002896_dbVar|chr7:73023279-73023954_dbVar|chr7:73054513-73055107_dbVar|chr7:73065479-73067124_dbVar|chr7:73090809-73093167_dbVar|chr7:73146454-73146754_dbVar|chr7:73173329-73173399_dbVar|chr7:73196779-73198220_dbVar|chr7:73211482-73211632_dbVar|chr7:73222000-73236000_dbVar...;Cosmic_ID=877501|108118|324755|325086|500342|500863|500908|302773|303106|303125|484486|484953|484961|484998|485028|554297|554388|554400|554408|554410|554411|554412|652674|513717|232773|232999|491805|491889|491904|622919|622936|79946|80091|80098|80110|1189277|1371704|2784756|838538|280114|281928|282158|844585|730219|575489|575912|575922|575950|576011|576029|477922|...,.,.,.,529378,.,.,730221|733450|733479|776773,.,.,.,.,.,.,.,.,.,776775,.,.,596146|596546,520421|520564|521476,.,.,.,730235|1376904|311922|312170,287214|409861|257633|257740|257750|280118|596149|596444|598757|291764|291839|291840|730239,.,529379|525619|534294|538338|776782|778027|776783|777959|777979|777991,776783|777959|777979|777991;Cosmic_mut_typ=gain|loss,.,.,.,loss,.,.,loss,.,.,.,.,.,.,.,.,.,loss,.,.,loss,loss|gain,.,.,.,loss|gain,gain|loss,.,loss|gain,loss;GC_content_left=0.37;GC_content_right=0.355;Repeat_coord_left=7:72726181-72726486;Repeat_type_left=AluSz;SegDup_left=7:72700438-72744454|7:72700443-72744454;HI=3,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,0,.,.,.,.,.,0,.,0,.;TS=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,0,.,.,.,.,.,0,.,0,.;DDD_HI_percent=88.46,55.55,65.69,46.95,23.74,28.63,30.81,36.45,64.11,80.16,.,22.82,.,.,76.55,33.46,23.72,.,.,8.62,19.66,21.78,.,88.46,14.42,47.98,47.51,.,33.5,.;ExAC_delZ=1.77201404347458,.,.,0.247827425263201,1.02239565516008,1.05583278690403,-0.199291215312469,0.942636989769333,.,0.717396479665947,.,0.950800964625408,.,.,0.643446275430498,0.332553044404404,0.563064431580096,.,.,0.1188507761401,0.623604739936053,0.339580839486745,.,0.592710857132059,0.200864992787726,1.014608801418,1.77201404347458,.,.,.;ExAC_dupZ=0.0159631069818757,.,.,-1.18776035129969,0.0159631069818757,-0.553040364632404,-0.922199212243606,-0.774220086661663,.,-0.500797326082256,.,-0.794674734358171,.,.,-0.675433866559718,-0.966715148489597,-0.809178554455325,.,.,-1.61408470478924,-0.79212126645541,-0.49261121282204,.,-0.653878691847743,-0.430045328414053,-0.895566510532316,-0.0325005901648791,.,.,.;ExAC_cnvZ=0.491444562429841,.,.,-0.895389454591556,0.395552906953086,-0.0819162539430506,-0.751016280020485,-0.327638361779731,.,-0.15204008716984,.,-0.324619004824717,.,.,-0.327510119466819,-0.688425296234703,-0.46244511082827,.,.,-1.04153334326364,-0.396805714672051,-0.247951312124761,.,-0.292110083865967,-0.225638310792768,-0.401705936344982,0.491444562429841,.,.,.;ExAC_synZ=2.70903614483931,0.317380023327075,1.49986407027643,.,-0.902054979760057,-0.44503506022657,0.200201742907301,0.58127606528246,-0.0288746954043306,1.08623431117684,.,1.10438995088098,.,.,1.09331776236833,2.70903614483931,-0.0167724140747313,.,.,-0.09395744769762,-0.48782967368913,-0.250271670703448,.,0.385787155434006,-0.430513909559958,-0.746648021563001,0.977775575032158,.,0.964550444182401,.;ExAC_misZ=4.23220859072885,0.681275321847818,1.4396607305099,.,4.05717005254254,1.74981493260157,0.554223709974506,1.2288879277127,0.953055172354045,1.71697083676563,.,3.33806479625907,.,.,0.473373375061211,1.92914089110849,0.933080799622852,.,.,-0.0129976080826519,2.85746490313868,3.27930650064444,.,-0.303087706786894,1.53581142075512,2.45305749434808,2.53365459317235,.,4.23220859072885,.;GenCC_disease=.,.,spermatogenic_failure_77,.,autism_spectrum_disorder,.,.,.,.,Leber_hereditary_optic_neuropathy|Leber_hereditary_optic_neuropathy,_autosomal_recessive,.,.,.,.,.,.,.,.,.,autosomal_dominant_cutis_laxa|cutis_laxa,_autosomal_dominant_1|supravalvular_aortic_stenosis,.,.,.,.,.,.,.,.,.,.;GenCC_moi=.,.,AR,.,AD,.,.,.,.,AR|MT,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,.,.,.,.;GenCC_classification=.,.,Moderate,.,Limited,.,.,.,.,Limited|Strong|Supportive,.,.,.,.,.,.,.,.,.,Definitive|Strong|Supportive,.,.,.,.,.,.,.,.,.,.;GenCC_pmid=.,.,.,.,.,.,.,.,.,33465056|33465056[PMID],.,.,.,.,.,.,.,.,.,10190324|10190538|10942104[PMID]_19844261[PMID]|11175284|11735026|16085695[PMID]_18348261[PMID]|18348261|19844261|21309044|23442826|27866049|28383366|31560829|8132745|8364568|8541862|9215670|9215671,.,.,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,135892,8468,8326,9031,9275,26608,51085,155382,84277,114049,6804,100422948,171022,83451,1365,1364,155368,135886,2006,3984,7458,693175,7462,5982,7461,9569,113218504,2969,101926943;OMIM_ID=604839|618202|130160,.,604839,.,.,.,.,.,.,618202,.,.,.,.,.,.,.,.,.,130160,.,.,.,.,.,.,.,.,.,.;OMIM_phenotype=.,.,Spermatogenic_failure_77,_620103_(3)_AR,.,.,.,.,.,.,Leber-like_hereditary_optic_neuropathy,_AR_1,_619382_(3)_AR,.,.,.,.,.,.,.,.,.,Cutis_laxa,_AD,_123700_(3)_AD|Supravalvar_aortic_stenosis,_185500_(3)_AD,.,.,.,.,.,.,.,.,.,.;OMIM_inheritance=.,.,AR,.,.,.,.,.,.,AR,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,.,.,.,.;OMIM_morbid=yes,.,yes,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.;LOEUF_bin=0,7,5,4,0,3,4,2,1,7,.,1,.,.,5,4,9,.,.,4,0,2,.,4,5,0,1,.,1,.;GnomAD_pLI=1,1.5479e-10,1.3955e-06,0.0019309,1,0.18519,0.00018452,0.047771,0.91622,0.023092,.,0.9785,.,.,0.0029581,0.52233,6.9789e-05,.,.,2.1429e-14,0.99937,0.43982,.,0.00022295,2.2054e-06,0.99997,0.90039,.,0.99592,.;ExAC_pLI=1,2.7256e-06,0.1306,.,1,0.70664,0.0043765,0.67682,0.65635,0.0047983,.,0.91048,.,.,9.0329e-06,0.67854,0.00013716,.,.,1.52e-05,0.9909,0.92254,.,0.00069106,4.0421e-05,0.99988,0.99643,.,0.99935,.;AnnotSV_ranking_score=1.45;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3B_(29_genes,_+0.45)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=74139390;SVLEN=-1412811 GT 1/. -8 7169491 . G . PASS AnnotSV_ID=8_7169491_7753583_DEL_1;SV_start=7169491;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p23.1;Gene_name=FAM66B|DEFB109B|USP17L1|USP17L4|ZNF705G|DEFB4B|DEFB103B|SPAG11B|DEFB104B|DEFB106B|DEFB105B|DEFB107B|PRR23D1|FAM90A7|FAM90A22|FAM90A23|FAM90A14|FAM90A18|FAM90A16|FAM90A8|FAM90A17|FAM90A19|FAM90A9|FAM90A10|PRR23D2|DEFB107A|DEFB105A|DEFB106A|DEFB104A|SPAG11A|DEFB103A|DEFB4A,FAM66B,DEFB109B,USP17L1,USP17L4,ZNF705G,DEFB4B,DEFB103B,SPAG11B,DEFB104B,DEFB106B,DEFB105B,DEFB107B,PRR23D1,FAM90A7,FAM90A22,FAM90A23,FAM90A14,FAM90A18,FAM90A16,FAM90A8,FAM90A17,FAM90A19,FAM90A9,FAM90A10,PRR23D2,DEFB107A,DEFB105A,DEFB106A,DEFB104A,SPAG11A,DEFB103A,DEFB4A;Closest_left=LINC00965;Closest_right=ZNF705B;Gene_count=32;Tx=.,NR_027423,NM_001037380,NM_001256873,NM_001256874,NM_001164457,NM_001205266,NM_018661,NM_058201,NM_001040702,NM_001040704,NM_001040703,NM_001040705,NM_001282479,NM_001397387,NM_001397382,NM_001397380,NM_001164452,NM_001164451,NM_001397396,NM_001164450,NM_001397391,NM_001164449,NM_001164448,NM_001164447,NM_001282478,NM_001037668,NM_152250,NM_152251,NM_080389,NM_001395484,NM_001081551,NM_004942;Tx_version=.,2,2,1,1,3,2,4,4,1,2,3,2,1,1,1,1,1,1,1,1,1,1,1,1,1,1,3,4,3,1,4,4;Tx_start=.,7156265,7170243,7189908,7194636,7213038,7272376,7286409,7308124,7327829,7340025,7345200,7353432,7397148,7414221,7429516,7437165,7572964,7580612,7588260,7595908,7603555,7611203,7618851,7626498,7636112,7669241,7678525,7682660,7693957,7705529,7738913,7752198;Tx_end=.,7212885,7177618,7191501,7196229,7243080,7274385,7287870,7321064,7332604,7343922,7347115,7366833,7399972,7417234,7432528,7440175,7575975,7583623,7591271,7598918,7606566,7614214,7621862,7629510,7638935,7673238,7681402,7686575,7698764,7718465,7740185,7754238;Overlapped_tx_length=.,43395,7375,1593,1593,30042,2009,1461,12940,4775,3897,1915,13401,2824,3013,3012,3010,3011,3011,3011,3010,3011,3011,3011,3012,2823,3997,2877,3915,4807,12936,1272,1385;Overlapped_CDS_length=.,0,264,1593,1593,903,195,204,402,219,198,237,213,840,1395,1395,1395,1395,1395,1395,1395,1395,1395,1395,1395,840,213,237,198,219,402,204,58;Overlapped_CDS_percent=.,0,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,29;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,yes;Exon_count=.,7,2,1,1,7,2,2,3,2,2,3,2,4,4,4,4,4,4,4,4,4,4,4,4,4,2,3,2,2,3,2,2;Location=.,txStart-intron6,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-intron1;Location2=.,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-CDS;Dist_nearest_SS=.,9797,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,412;Nearest_SS_type=.,3',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3';Intersect_start=.,7169490,7170243,7189908,7194636,7213038,7272376,7286409,7308124,7327829,7340025,7345200,7353432,7397148,7414221,7429516,7437165,7572964,7580612,7588260,7595908,7603555,7611203,7618851,7626498,7636112,7669241,7678525,7682660,7693957,7705529,7738913,7752198;Intersect_end=.,7212885,7177618,7191501,7196229,7243080,7274385,7287870,7321064,7332604,7343922,7347115,7366833,7399972,7417234,7432528,7440175,7575975,7583623,7591271,7598918,7606566,7614214,7621862,7629510,7638935,7673238,7681402,7686575,7698764,7718465,7740185,7753583;RE_gene=MCPH1_(morbid/RE=ABC_enhancer+GH_promoter_enhancer);po_P_gain_source=dbVar:nssv15169207|dbVar:nssv15128680|dbVar:nssv15161508|dbVar:nssv15161747|dbVar:nssv17976867|dbVar:nssv17957391|dbVar:nssv15154583|dbVar:nssv15161801|nssv15777239|nssv17976962|dbVar:nssv15154584|dbVar:nssv16206921|dbVar:nssv15154580|dbVar:nssv15161417|nssv15161657|dbVar:nssv15147671|dbVar:nssv15161846|dbVar:nssv15150473|dbVar:nssv15127651|dbVar:nssv15149098|dbVar:nssv15169210|dbVar:nssv15154582|dbVar:nssv15146537|dbVar:nssv15161807|dbVar:nssv15161553|dbVar:nssv15161105|dbVar:nssv15161095|dbVar:nssv15161561|dbVar:nssv15161078|dbVar:nssv15147455|dbVar:nssv16736635|dbVar:nssv15161269|dbVar:nssv15161748|dbVar:nssv15161749|dbVar:nssv15143576|dbVar:nssv15161775|dbVar:nssv15146180|dbVar:nssv15161087|dbVar:nssv15161068|dbVar:nssv15161792|dbVar:nssv15606063|dbVar:nssv15151542|dbVar:nssv15161084|dbVar:nssv16206931|dbVar:nssv15154577|dbVar:nssv15161089|dbVar:nssv15151538|dbVar:nssv15152254|dbVar:nssv18842054|dbVar:nssv15161540|dbVar:nssv15161727|dbVar:nssv15161764;po_P_gain_coord=8:10214-146293414|8:13939-146304022|8:46311-11879315|8:46311-30472220|8:158049-10348413|8:158049-11936107|8:158049-13974319|8:158049-146295771|8:158049-15423270|8:158049-8102819|8:158049-9750676|8:158050-146295771|8:158992-13304906|8:158992-146280828|8:158992-17536147|8:163683-46938942|8:164985-11860845|8:164985-146293414|8:168484-13147575|8:169854-10022996|8:176453-12556063|8:176453-12570496|8:176453-146294098|8:176453-16137655|8:176453-34349408|8:176453-37879246|8:176453-7838959|8:176815-43396776|8:191531-146274835|8:191531-146280020|8:191531-17536206|8:191531-22404983|8:191531-23055911|8:191531-7752586|8:191606-146280167|8:191606-24514484|8:191606-30948590|8:194618-13947374|8:1825201-24533193|8:6961184-12157391|8:6999220-11895232|8:6999220-11898980|8:6999220-38553064|8:6999220-8881836|8:7053187-11805960|8:7080282-12045269|8:7169491-12404062|8:7268820-12039974|8:7691902-12039974;po_P_gain_percent=0.40|0.40|4.94|1.92|5.73|4.96|4.23|0.40|3.83|7.35|6.09|0.40|4.44|0.40|3.36|1.25|4.99|0.40|4.50|5.93|4.72|4.71|0.40|3.66|1.71|1.55|7.62|1.35|0.40|0.40|3.37|2.63|2.55|7.71|0.40|2.40|1.90|4.25|2.57|11.24|11.93|11.92|1.85|31.03|12.29|11.76|11.16|10.16|1.42;po_P_loss_source=dbVar:nssv15168702|dbVar:nssv15169206|dbVar:nssv18842057|dbVar:nssv17956019|dbVar:nssv15154581|dbVar:nssv18326425|dbVar:nssv15149861|dbVar:nssv15775686|dbVar:nssv17976739|dbVar:nssv16208166|dbVar:nssv15774257|dbVar:nssv15149509|dbVar:nssv18330306|dbVar:nssv18329623|dbVar:nssv16216869|dbVar:nssv15169209|dbVar:nssv15223191|dbVar:nssv15147275|dbVar:nssv15148964|dbVar:nssv15147296|dbVar:nssv15146181|nssv15146816|dbVar:nssv15606064|dbVar:nssv15146660|dbVar:nssv18841910|dbVar:nssv15161264|nssv15161582|dbVar:nssv15145917|dbVar:nssv15161283|dbVar:nssv15161284|dbVar:nssv15161070|dbVar:nssv15141976|dbVar:nssv15161050;po_P_loss_coord=8:10214-10197718|8:10214-8948469|8:10502-11142629|8:10502-7214947|8:158049-10939681|8:158049-11281408|8:158049-13309069|8:158049-14214722|8:158049-30187456|8:158049-9025197|8:158049-9393052|8:158049-9749574|8:158050-10965627|8:158050-18936715|8:161517-11516619|8:164985-10007227|8:176815-7753583|8:191531-10049105|8:191531-10315994|8:191531-10724642|8:191531-7752586|8:194618-7787444|8:360370-7334625|8:399894-23712417|8:2292236-27361796|8:3791728-11384448|8:7053187-12241152|8:7092360-12372324|8:7169491-12404062|8:7268820-11805960|8:7268820-11819316;po_P_loss_percent=5.73|6.53|5.25|0.63|5.42|5.25|4.44|4.16|1.95|6.59|6.32|6.09|5.40|3.11|5.14|5.93|7.71|5.93|5.77|5.55|7.71|7.69|2.37|2.51|2.33|7.69|11.26|11.06|11.16|10.68|10.65;B_gain_source=DDD:26674|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|DDD:26742|DDD:26743|TS40:ISCA-37472|TS40:ISCA-46381|dbVar|dgv6936n100|esv2761169|esv2764098|gnomAD-SV_v2.1_DUP_8_23708,DDD:26674|DDD:26727|DDD:26729|DDD:26742|DDD:26743|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098;B_gain_coord=8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7474073,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7187516|chr8:7159226-7201223|chr8:7159226-7474073,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7201223|chr8:7159226-7474073|chr8:7187516-7201223,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7201223|chr8:7159226-7474073|chr8:7187516-7201223,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|chr8:7206400-7253000,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7241528-7403182|8:7250369-7832042|chr8:7365000-7404400,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7404000-7437650,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7404000-7437650|chr8:7424800-7474000,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7424800-7474000,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7608000-7649500|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839|8:7718891-7784263|8:7734213-7856702|8:7737000-7743100|chr8:7737000-7743100|8:7737000-7743100,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839|8:7718891-7784263|8:7734213-7856702;B_gain_AFmax=0.2355;B_loss_source=DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|DDD:26683|HI40:ISCA-37472|dbVar|esv2675221|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|DDD:26687|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89341|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|HI40:ISCA-46380|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89353,DDD:26674|DDD:26727|HI40:ISCA-37472|HI40:ISCA-46380|HI40:ISCA-46382|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89353|gnomAD-SV_v2.1_DEL_8_89355;B_loss_coord=8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289|8:7158046-7189992|8:7158202-7189800,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289|8:7190892-7196288,8:6858816-8072303|8:6959834-8600711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eG_coord=8:6858816-8072303_esv2761169|8:6985776-7230992_DDD:26670|8:7035907-7428513_DDD:26675|chr8:7085462-7537934_dbVar|8:7158046-7189992_esv2675221|chr8:7175745-7175870_dbVar|8:7179583-7191032_1000g|chr8:7180382-7180743_dbVar|8:7190892-7196288_DDD:26687|8:7201000-7206400_gnomAD-SV_v2.1_DEL_8_89332|chr8:7212582-7227421_dbVar|8:7212583-7227421_esv3616116|chr8:7228000-7235000_dbVar|chr8:7276552-7277128_dbVar|8:7308244-7308706_DDD:26704|chr8:7355000-7363000_dbVar|chr8:7355293-7364762_dbVar|8:7355294-7364762_esv3616120|chr8:7402900-7419700_dbVar|chr8:7405950-7443050_dbVar...;Cosmic_ID=674618|1021421|1021422|646653|1520679|1915732|3052323|2599287|832406|665154|653853|679166|678976|663306|700319|654990|679312|646920|863772|653647|649616|671308|658988|675704|1023557|678564|857770|745967|654991|676140|783310|824013|870858|820152|834536|871873|875246|654992|701040|665155|745968|682446|745969|702113|890458|732002|921361|909011|880183|1018294|925302|...,.,.,.,.,1023557|745967|654991|676140|745968|732002,.,.,.,.,.,.,603719|849088|921364,.,.,.,.,.,.,.,.,.,.,.,.,.,682133,.,.,.,.,.,.;Cosmic_mut_typ=loss|gain,.,.,.,.,loss|gain,.,.,.,.,.,.,gain,.,.,.,.,.,.,.,.,.,.,.,.,.,gain,.,.,.,.,.,.;GC_content_left=0.26;GC_content_right=0.33;SegDup_left=8:7150797-7184572|8:7150797-7195814|8:7150797-7200543|8:7150798-7238459;SegDup_right=8:7600001-7825413;ENCODE_blacklist_left=8:7012601-8066200;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=8:7012601-8066200;ENCODE_blacklist_characteristics_right=High_Signal_Region;DDD_HI_percent=99.72,.,.,.,.,91.1,99.72,85.97,89.4,95.66,93.29,90.95,91.71,.,.,.,.,.,.,.,.,.,.,.,.,.,92.48,90.61,90.45,96.98,97.15,93.4,97.87;ExAC_synZ=2.14121257165536,.,.,.,.,-1.59751875296103,.,.,2.14121257165536,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.918523398770926,0.676417083229402,1.33624136747443,0.140072348156658,.,1.12959151611996;ExAC_misZ=2.19863945242443,.,.,.,.,-3.97736276921453,.,.,1.8677219993927,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.008093353918723,1.6332400949348,2.19863945242443,0.903069021299127,.,0.758429673080804;NCBI_gene_ID=.,100128890,641517,401447,645402,100131980,100289462,55894,10407,503618,503841,504180,503614,100131608,441317,645558,645572,645651,441326,441323,441324,728746,728753,441327,441328,100133251,245910,245908,245909,140596,653423,414325,1673;OMIM_morbid=yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes;OMIM_morbid_candidate=yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes;LOEUF_bin=8,.,.,.,.,9,9,.,9,9,9,9,.,8,.,.,.,.,.,.,.,.,.,.,.,.,9,8,9,9,9,.,9;GnomAD_pLI=0.4218,.,.,.,.,1.6471e-08,0.067977,.,0.027751,0.33176,0.081151,0.29184,.,0.4218,.,.,.,.,.,.,.,.,.,.,.,.,0.32633,0.37719,0.0085821,0.093748,6.9645e-05,.,0.0011637;ExAC_pLI=0.51947,.,.,.,.,4.2486e-09,.,.,0.047238,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.43625,0.40931,0.51947,0.039012,.,0.39981;AnnotSV_ranking_score=1.35;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2C-1_(DEFB4A,_+0.90)|3B_(32_genes,_+0.45)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=7753583;SVLEN=-584092 GT 1/. -8 7169491 . G . PASS AnnotSV_ID=8_7169491_7753583_DUP_1;SV_start=7169491;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p23.1;Gene_name=FAM66B|DEFB109B|USP17L1|USP17L4|ZNF705G|DEFB4B|DEFB103B|SPAG11B|DEFB104B|DEFB106B|DEFB105B|DEFB107B|PRR23D1|FAM90A7|FAM90A22|FAM90A23|FAM90A14|FAM90A18|FAM90A16|FAM90A8|FAM90A17|FAM90A19|FAM90A9|FAM90A10|PRR23D2|DEFB107A|DEFB105A|DEFB106A|DEFB104A|SPAG11A|DEFB103A|DEFB4A,FAM66B,DEFB109B,USP17L1,USP17L4,ZNF705G,DEFB4B,DEFB103B,SPAG11B,DEFB104B,DEFB106B,DEFB105B,DEFB107B,PRR23D1,FAM90A7,FAM90A22,FAM90A23,FAM90A14,FAM90A18,FAM90A16,FAM90A8,FAM90A17,FAM90A19,FAM90A9,FAM90A10,PRR23D2,DEFB107A,DEFB105A,DEFB106A,DEFB104A,SPAG11A,DEFB103A,DEFB4A;Closest_left=LINC00965;Closest_right=ZNF705B;Gene_count=32;Tx=.,NR_027423,NM_001037380,NM_001256873,NM_001256874,NM_001164457,NM_001205266,NM_018661,NM_058201,NM_001040702,NM_001040704,NM_001040703,NM_001040705,NM_001282479,NM_001397387,NM_001397382,NM_001397380,NM_001164452,NM_001164451,NM_001397396,NM_001164450,NM_001397391,NM_001164449,NM_001164448,NM_001164447,NM_001282478,NM_001037668,NM_152250,NM_152251,NM_080389,NM_001395484,NM_001081551,NM_004942;Tx_version=.,2,2,1,1,3,2,4,4,1,2,3,2,1,1,1,1,1,1,1,1,1,1,1,1,1,1,3,4,3,1,4,4;Tx_start=.,7156265,7170243,7189908,7194636,7213038,7272376,7286409,7308124,7327829,7340025,7345200,7353432,7397148,7414221,7429516,7437165,7572964,7580612,7588260,7595908,7603555,7611203,7618851,7626498,7636112,7669241,7678525,7682660,7693957,7705529,7738913,7752198;Tx_end=.,7212885,7177618,7191501,7196229,7243080,7274385,7287870,7321064,7332604,7343922,7347115,7366833,7399972,7417234,7432528,7440175,7575975,7583623,7591271,7598918,7606566,7614214,7621862,7629510,7638935,7673238,7681402,7686575,7698764,7718465,7740185,7754238;Overlapped_tx_length=.,43395,7375,1593,1593,30042,2009,1461,12940,4775,3897,1915,13401,2824,3013,3012,3010,3011,3011,3011,3010,3011,3011,3011,3012,2823,3997,2877,3915,4807,12936,1272,1385;Overlapped_CDS_length=.,0,264,1593,1593,903,195,204,402,219,198,237,213,840,1395,1395,1395,1395,1395,1395,1395,1395,1395,1395,1395,840,213,237,198,219,402,204,58;Overlapped_CDS_percent=.,0,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,29;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,yes;Exon_count=.,7,2,1,1,7,2,2,3,2,2,3,2,4,4,4,4,4,4,4,4,4,4,4,4,4,2,3,2,2,3,2,2;Location=.,txStart-intron6,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-intron1;Location2=.,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-CDS;Dist_nearest_SS=.,9797,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,412;Nearest_SS_type=.,3',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3';Intersect_start=.,7169490,7170243,7189908,7194636,7213038,7272376,7286409,7308124,7327829,7340025,7345200,7353432,7397148,7414221,7429516,7437165,7572964,7580612,7588260,7595908,7603555,7611203,7618851,7626498,7636112,7669241,7678525,7682660,7693957,7705529,7738913,7752198;Intersect_end=.,7212885,7177618,7191501,7196229,7243080,7274385,7287870,7321064,7332604,7343922,7347115,7366833,7399972,7417234,7432528,7440175,7575975,7583623,7591271,7598918,7606566,7614214,7621862,7629510,7638935,7673238,7681402,7686575,7698764,7718465,7740185,7753583;RE_gene=MCPH1_(morbid/RE=ABC_enhancer+GH_promoter_enhancer);po_P_gain_source=dbVar:nssv15169207|dbVar:nssv15128680|dbVar:nssv15161508|dbVar:nssv15161747|dbVar:nssv17976867|dbVar:nssv17957391|dbVar:nssv15154583|dbVar:nssv15161801|nssv15777239|nssv17976962|dbVar:nssv15154584|dbVar:nssv16206921|dbVar:nssv15154580|dbVar:nssv15161417|nssv15161657|dbVar:nssv15147671|dbVar:nssv15161846|dbVar:nssv15150473|dbVar:nssv15127651|dbVar:nssv15149098|dbVar:nssv15169210|dbVar:nssv15154582|dbVar:nssv15146537|dbVar:nssv15161807|dbVar:nssv15161553|dbVar:nssv15161105|dbVar:nssv15161095|dbVar:nssv15161561|dbVar:nssv15161078|dbVar:nssv15147455|dbVar:nssv16736635|dbVar:nssv15161269|dbVar:nssv15161748|dbVar:nssv15161749|dbVar:nssv15143576|dbVar:nssv15161775|dbVar:nssv15146180|dbVar:nssv15161087|dbVar:nssv15161068|dbVar:nssv15161792|dbVar:nssv15606063|dbVar:nssv15151542|dbVar:nssv15161084|dbVar:nssv16206931|dbVar:nssv15154577|dbVar:nssv15161089|dbVar:nssv15151538|dbVar:nssv15152254|dbVar:nssv18842054|dbVar:nssv15161540|dbVar:nssv15161727|dbVar:nssv15161764;po_P_gain_coord=8:10214-146293414|8:13939-146304022|8:46311-11879315|8:46311-30472220|8:158049-10348413|8:158049-11936107|8:158049-13974319|8:158049-146295771|8:158049-15423270|8:158049-8102819|8:158049-9750676|8:158050-146295771|8:158992-13304906|8:158992-146280828|8:158992-17536147|8:163683-46938942|8:164985-11860845|8:164985-146293414|8:168484-13147575|8:169854-10022996|8:176453-12556063|8:176453-12570496|8:176453-146294098|8:176453-16137655|8:176453-34349408|8:176453-37879246|8:176453-7838959|8:176815-43396776|8:191531-146274835|8:191531-146280020|8:191531-17536206|8:191531-22404983|8:191531-23055911|8:191531-7752586|8:191606-146280167|8:191606-24514484|8:191606-30948590|8:194618-13947374|8:1825201-24533193|8:6961184-12157391|8:6999220-11895232|8:6999220-11898980|8:6999220-38553064|8:6999220-8881836|8:7053187-11805960|8:7080282-12045269|8:7169491-12404062|8:7268820-12039974|8:7691902-12039974;po_P_gain_percent=0.40|0.40|4.94|1.92|5.73|4.96|4.23|0.40|3.83|7.35|6.09|0.40|4.44|0.40|3.36|1.25|4.99|0.40|4.50|5.93|4.72|4.71|0.40|3.66|1.71|1.55|7.62|1.35|0.40|0.40|3.37|2.63|2.55|7.71|0.40|2.40|1.90|4.25|2.57|11.24|11.93|11.92|1.85|31.03|12.29|11.76|11.16|10.16|1.42;po_P_loss_source=dbVar:nssv15168702|dbVar:nssv15169206|dbVar:nssv18842057|dbVar:nssv17956019|dbVar:nssv15154581|dbVar:nssv18326425|dbVar:nssv15149861|dbVar:nssv15775686|dbVar:nssv17976739|dbVar:nssv16208166|dbVar:nssv15774257|dbVar:nssv15149509|dbVar:nssv18330306|dbVar:nssv18329623|dbVar:nssv16216869|dbVar:nssv15169209|dbVar:nssv15223191|dbVar:nssv15147275|dbVar:nssv15148964|dbVar:nssv15147296|dbVar:nssv15146181|nssv15146816|dbVar:nssv15606064|dbVar:nssv15146660|dbVar:nssv18841910|dbVar:nssv15161264|nssv15161582|dbVar:nssv15145917|dbVar:nssv15161283|dbVar:nssv15161284|dbVar:nssv15161070|dbVar:nssv15141976|dbVar:nssv15161050;po_P_loss_coord=8:10214-10197718|8:10214-8948469|8:10502-11142629|8:10502-7214947|8:158049-10939681|8:158049-11281408|8:158049-13309069|8:158049-14214722|8:158049-30187456|8:158049-9025197|8:158049-9393052|8:158049-9749574|8:158050-10965627|8:158050-18936715|8:161517-11516619|8:164985-10007227|8:176815-7753583|8:191531-10049105|8:191531-10315994|8:191531-10724642|8:191531-7752586|8:194618-7787444|8:360370-7334625|8:399894-23712417|8:2292236-27361796|8:3791728-11384448|8:7053187-12241152|8:7092360-12372324|8:7169491-12404062|8:7268820-11805960|8:7268820-11819316;po_P_loss_percent=5.73|6.53|5.25|0.63|5.42|5.25|4.44|4.16|1.95|6.59|6.32|6.09|5.40|3.11|5.14|5.93|7.71|5.93|5.77|5.55|7.71|7.69|2.37|2.51|2.33|7.69|11.26|11.06|11.16|10.68|10.65;B_gain_source=DDD:26674|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|DDD:26742|DDD:26743|TS40:ISCA-37472|TS40:ISCA-46381|dbVar|dgv6936n100|esv2761169|esv2764098|gnomAD-SV_v2.1_DUP_8_23708,DDD:26674|DDD:26727|DDD:26729|DDD:26742|DDD:26743|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098;B_gain_coord=8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7474073,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7187516|chr8:7159226-7201223|chr8:7159226-7474073,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7201223|chr8:7159226-7474073|chr8:7187516-7201223,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7201223|chr8:7159226-7474073|chr8:7187516-7201223,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|chr8:7206400-7253000,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7241528-7403182|8:7250369-7832042|chr8:7365000-7404400,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7404000-7437650,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7404000-7437650|chr8:7424800-7474000,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7424800-7474000,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7608000-7649500|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839|8:7718891-7784263|8:7734213-7856702|8:7737000-7743100|chr8:7737000-7743100|8:7737000-7743100,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839|8:7718891-7784263|8:7734213-7856702;B_gain_AFmax=0.2355;B_loss_source=DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|DDD:26683|HI40:ISCA-37472|dbVar|esv2675221|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|DDD:26687|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89341|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|HI40:ISCA-46380|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89353,DDD:26674|DDD:26727|HI40:ISCA-37472|HI40:ISCA-46380|HI40:ISCA-46382|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89353|gnomAD-SV_v2.1_DEL_8_89355;B_loss_coord=8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289|8:7158046-7189992|8:7158202-7189800,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289|8:7190892-7196288,8:6858816-8072303|8:6959834-8600711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eG_coord=8:6858816-8072303_esv2761169|8:6985776-7230992_DDD:26670|8:7035907-7428513_DDD:26675|chr8:7085462-7537934_dbVar|8:7158046-7189992_esv2675221|chr8:7175745-7175870_dbVar|8:7179583-7191032_1000g|chr8:7180382-7180743_dbVar|8:7190892-7196288_DDD:26687|8:7201000-7206400_gnomAD-SV_v2.1_DEL_8_89332|chr8:7212582-7227421_dbVar|8:7212583-7227421_esv3616116|chr8:7228000-7235000_dbVar|chr8:7276552-7277128_dbVar|8:7308244-7308706_DDD:26704|chr8:7355000-7363000_dbVar|chr8:7355293-7364762_dbVar|8:7355294-7364762_esv3616120|chr8:7402900-7419700_dbVar|chr8:7405950-7443050_dbVar...;Cosmic_ID=674618|1021421|1021422|646653|1520679|1915732|3052323|2599287|832406|665154|653853|679166|678976|663306|700319|654990|679312|646920|863772|653647|649616|671308|658988|675704|1023557|678564|857770|745967|654991|676140|783310|824013|870858|820152|834536|871873|875246|654992|701040|665155|745968|682446|745969|702113|890458|732002|921361|909011|880183|1018294|925302|...,.,.,.,.,1023557|745967|654991|676140|745968|732002,.,.,.,.,.,.,603719|849088|921364,.,.,.,.,.,.,.,.,.,.,.,.,.,682133,.,.,.,.,.,.;Cosmic_mut_typ=loss|gain,.,.,.,.,loss|gain,.,.,.,.,.,.,gain,.,.,.,.,.,.,.,.,.,.,.,.,.,gain,.,.,.,.,.,.;GC_content_left=0.26;GC_content_right=0.33;SegDup_left=8:7150797-7184572|8:7150797-7195814|8:7150797-7200543|8:7150798-7238459;SegDup_right=8:7600001-7825413;ENCODE_blacklist_left=8:7012601-8066200;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=8:7012601-8066200;ENCODE_blacklist_characteristics_right=High_Signal_Region;DDD_HI_percent=99.72,.,.,.,.,91.1,99.72,85.97,89.4,95.66,93.29,90.95,91.71,.,.,.,.,.,.,.,.,.,.,.,.,.,92.48,90.61,90.45,96.98,97.15,93.4,97.87;ExAC_synZ=2.14121257165536,.,.,.,.,-1.59751875296103,.,.,2.14121257165536,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.918523398770926,0.676417083229402,1.33624136747443,0.140072348156658,.,1.12959151611996;ExAC_misZ=2.19863945242443,.,.,.,.,-3.97736276921453,.,.,1.8677219993927,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.008093353918723,1.6332400949348,2.19863945242443,0.903069021299127,.,0.758429673080804;NCBI_gene_ID=.,100128890,641517,401447,645402,100131980,100289462,55894,10407,503618,503841,504180,503614,100131608,441317,645558,645572,645651,441326,441323,441324,728746,728753,441327,441328,100133251,245910,245908,245909,140596,653423,414325,1673;OMIM_morbid=yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes;OMIM_morbid_candidate=yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes;LOEUF_bin=8,.,.,.,.,9,9,.,9,9,9,9,.,8,.,.,.,.,.,.,.,.,.,.,.,.,9,8,9,9,9,.,9;GnomAD_pLI=0.4218,.,.,.,.,1.6471e-08,0.067977,.,0.027751,0.33176,0.081151,0.29184,.,0.4218,.,.,.,.,.,.,.,.,.,.,.,.,0.32633,0.37719,0.0085821,0.093748,6.9645e-05,.,0.0011637;ExAC_pLI=0.51947,.,.,.,.,4.2486e-09,.,.,0.047238,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.43625,0.40931,0.51947,0.039012,.,0.39981;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2E_(cf_B_gain_source,_+0.00)|2J_(DEFB4A,_+0.00)|2L_(FAM66B,_+0.00)|3A_(32_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1;END=7753583;SVLEN=584092 GT 1/. -8 56986130 . T . PASS AnnotSV_ID=8_56986130_57169684_DEL_1;SV_start=56986130;Biologist_annotation=VOUS_in_2017,_reclassified_in_2020;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split;CytoBand=q12.1;Gene_name=RPS20|SNORD54|CERNA3|MOS|PLAG1|CHCHD7,RPS20,SNORD54,CERNA3,MOS,PLAG1,CHCHD7;Closest_left=SNORA1B;Closest_right=SDR16C5;Gene_count=6;Tx=.,NM_001146227,NR_002437,NR_149110,NM_005372,NM_001114634,NM_001011668;Tx_version=.,3,1,1,1,2,3;Tx_start=.,56979812,56986397,56987150,57025500,57073467,57124347;Tx_end=.,56987065,56986460,56987833,57026541,57123832,57131368;Overlapped_tx_length=.,936,63,683,1041,50365,7021;Overlapped_CDS_length=.,177,0,0,1041,1503,333;Overlapped_CDS_percent=.,41,0,0,100,100,100;Frameshift=.,no,no,no,no,no,no;Exon_count=.,6,1,2,1,4,5;Location=.,txStart-intron3,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,5'UTR-CDS,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR;Dist_nearest_SS=.,124,.,.,.,.,.;Nearest_SS_type=.,5',.,.,.,.,.;Intersect_start=.,56986129,56986397,56987150,57025500,57073467,57124347;Intersect_end=.,56987065,56986460,56987833,57026541,57123832,57131368;RE_gene=LYN_(morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer+GH_promoter_enhancer);P_loss_phen=Adenomas,_salivary_gland_pleomorphic,_somatic,_181030_(3)|Silver-Russell_syndrome_4,_618907_(3)_AD|Oocyte|zygote|embryo_maturation_arrest_20,_620383_(3)_AR,.,.,.,Oocyte|zygote|embryo_maturation_arrest_20,_620383_(3)_AR,Adenomas,_salivary_gland_pleomorphic,_somatic,_181030_(3)|Silver-Russell_syndrome_4,_618907_(3)_AD,.;P_loss_source=morbid:MOS|morbid:PLAG1,.,.,.,morbid:MOS,morbid:PLAG1,.;P_loss_coord=8:57025501-57026541|8:57073468-57123832,.,.,.,8:57025501-57026541,8:57073468-57123832,.;po_P_gain_source=dbVar:nssv15169207|dbVar:nssv15128680|dbVar:nssv15161801|nssv15777239|nssv17976962|dbVar:nssv15161417|nssv15161657|dbVar:nssv15161846|dbVar:nssv15169210|dbVar:nssv15161105|dbVar:nssv15161269|dbVar:nssv15161748|dbVar:nssv15161087|dbVar:nssv15161426|dbVar:nssv15161357|dbVar:nssv15777249|dbVar:nssv15147495|dbVar:nssv15774700|dbVar:nssv15161758|dbVar:nssv15161797|dbVar:nssv15139743|dbVar:nssv15135704;po_P_gain_coord=8:10214-146293414|8:13939-146304022|8:158049-146295771|8:158050-146295771|8:158992-146280828|8:164985-146293414|8:176453-146294098|8:191531-146274835|8:191531-146280020|8:191606-146280167|8:12491000-146295771|8:21149034-146295771|8:31936552-146295771|8:36437622-60531557|8:39555658-64049089|8:46942957-70216022|8:46942963-140297737|8:53436132-65195953|8:56228415-65864987;po_P_gain_percent=0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.14|0.15|0.16|0.76|0.75|0.79|0.20|1.56|1.90;po_P_loss_source=dbVar:nssv15167540|dbVar:nssv15148967|dbVar:nssv15138741|dbVar:nssv15125104|dbVar:nssv15137960|dbVar:nssv15137390|dbVar:nssv15121489|dbVar:nssv15124419;po_P_loss_coord=8:49822484-58822602|8:50384338-58738029|8:54237950-62775577|8:54407102-58403572|8:55677511-57697858|8:55733918-62058861|8:56335974-59749312|8:56405321-57358911;po_P_loss_percent=2.04|2.20|2.15|4.59|9.09|2.90|5.38|19.25;po_B_gain_someG_source=8:57048633-57098412_1000g|chr8:57153249-57153357_dbVar|;po_B_gain_someG_coord=chr8:57048632-57098412_dbVar|chr8:57048719-57098544_dbVar|chr8:57161314-57168512_dbVar;po_B_loss_someG_source=chr8:56988070-56988448_dbVar|8:56988698-56989817_1000g|8:56988746-56989825_DDD:27790|chr8:56988762-56997935_dbVar|chr8:57005850-57007074_dbVar|chr8:57059737-57063078_dbVar|chr8:57160128-57168353_dbVar|chr8:57161314-57168512_dbVar;po_B_loss_someG_coord=chr8:56988017-57000275_dbVar|chr8:56988697-56989817_dbVar|chr8:56988709-56997905_dbVar|chr8:56988754-56989776_dbVar|8:56988763-56997935_1000g|chr8:57047231-57047490_dbVar|chr8:57154268-57155609_dbVar|chr8:57161113-57168156_dbVar;Cosmic_ID=848459|394952|394953|395216|227414|227459|534473|534774|534866|302857|580548|575671|484667|558558|471349|469505|335198|335303|335354|376852|376955|376962|376972|376977|564747|681488|259626|589430|571930|312032|312165|312226|312239|302858|303092|303101|303169|303182|303196|303201|280931|777179|855820|280932|282047|282072,.,.,.,.,280931|777179,.;Cosmic_mut_typ=loss|gain,.,.,.,.,gain,.;GC_content_left=0.41;GC_content_right=0.33;Repeat_coord_right=8:57169736-57169990;Repeat_type_right=AluSz6;DDD_HI_percent=78.38,29.1,.,.,78.38,15.18,47.62;ExAC_delZ=0.98432298330431,0.98432298330431,.,.,0.159444434408663,0.393657994766781,0.447428062348521;ExAC_dupZ=0.46663829854876,-0.0464637247715686,.,.,0.46663829854876,-2.53125239294469,0.400234098889925;ExAC_cnvZ=0.586548999968454,0.36681079114905,.,.,0.524682444320288,-2.47162789907313,0.586548999968454;ExAC_synZ=2.2343517715388,-0.0133102053832282,.,.,2.2343517715388,-0.349819812502603,-0.725400991144389;ExAC_misZ=2.48184869967673,2.09183372030708,.,.,2.48184869967673,1.96019845356841,-0.857804306808559;GenCC_disease=.,Diamond-Blackfan_anemia|familial_colorectal_cancer_type_X|hereditary_nonpolyposis_colon_cancer,.,.,oocyte/zygote/embryo_maturation_arrest_20,silver-russell_syndrome_4,.;GenCC_moi=.,AD,.,.,.,AD,.;GenCC_classification=.,Limited|Supportive,.,.,Limited,Moderate|Strong,.;GenCC_pmid=.,24941021[PMID]|32790018[PMID],.,.,34779126|34997960|35670744,15606491|28796236|32546215,.;NCBI_gene_ID=.,6224,26795,105375847,55034,5324,79145;OMIM_ID=190060|603026,.,.,.,190060,603026,.;OMIM_phenotype=.,.,.,.,Oocyte/zygote/embryo_maturation_arrest_20,_620383_(3)_AR,Adenomas,_salivary_gland_pleomorphic,_somatic,_181030_(3)|Silver-Russell_syndrome_4,_618907_(3)_AD,.;OMIM_inheritance=.,.,.,.,AR,AD,.;OMIM_morbid=yes,.,.,.,yes,yes,.;LOEUF_bin=0,5,.,.,3,0,6;GnomAD_pLI=0.99532,0.020686,.,.,0.58928,0.99532,0.034885;ExAC_pLI=0.82992,0.68632,.,.,0.14931,0.82992,0.38798;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(6_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5;END=57169684;SVLEN=-183554 GT 1/. +7 72726579 . T . PASS AnnotSV_ID=7_72726579_74139390_DEL_1;SV_start=72726579;Biologist_annotation=Williams_syndrom;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q11.23;Gene_name=TRIM50|FKBP6|FZD9|BAZ1B|BCL7B|TBL2|MLXIPL|VPS37D|DNAJC30|BUD23|STX1A|MIR4284|ABHD11-AS1|ABHD11|CLDN3|CLDN4|METTL27|TMEM270|ELN|LIMK1|EIF4H|MIR590|LAT2|RFC2|CLIP2|GTF2IRD1|MIR10525|GTF2I|GTF2I-AS1,TRIM50,FKBP6,FZD9,BAZ1B,BCL7B,TBL2,MLXIPL,VPS37D,DNAJC30,BUD23,STX1A,MIR4284,ABHD11-AS1,ABHD11,CLDN3,CLDN4,METTL27,TMEM270,ELN,LIMK1,EIF4H,MIR590,LAT2,RFC2,CLIP2,GTF2IRD1,MIR10525,GTF2I,GTF2I-AS1;Closest_left=NSUN5;Closest_right=NCF1;Gene_count=29;Tx=.,NM_178125,NM_003602,NM_003508,NM_001370402,NM_001301061,NM_012453,NM_032951,NM_001077621,NM_032317,NM_001202560,NM_004603,NR_036247,NR_026690,NM_148912,NM_001306,NM_001305,NM_152559,NM_182504,NM_001278939,NM_002314,NM_022170,NR_030321,NM_014146,NM_181471,NM_003388,NM_001199207,NR_162116,NM_032999,NR_110044;Tx_version=.,3,5,3,1,2,4,3,2,3,3,4,1,1,4,4,5,3,4,2,4,2,1,4,3,5,2,1,4,1;Tx_start=.,72726531,72742163,72848107,72854735,72950685,72981866,73007531,73082160,73095247,73097926,73113539,73125646,73149398,73150423,73183326,73245325,73248919,73275488,73442502,73498133,73588685,73605527,73624335,73645831,73703736,73868235,74010294,74072043,74103270;Tx_end=.,72742085,72772634,72850450,72936623,72972020,72992909,73038852,73086440,73097783,73112542,73133999,73125727,73150330,73153132,73184600,73247020,73256846,73280220,73484237,73536855,73611426,73605624,73644164,73668729,73820265,74016931,74010353,74175022,74143256;Overlapped_tx_length=.,15507,30471,2343,81888,21335,11043,31321,4280,2536,14616,20460,81,932,2709,1274,1695,7927,4732,41735,38722,22741,97,19829,22898,116529,148696,59,67347,36120;Overlapped_CDS_length=.,1464,984,1776,4452,642,1344,2559,756,681,897,867,0,0,921,663,630,738,798,2361,1944,747,0,732,1065,3141,2931,0,943,0;Overlapped_CDS_percent=.,100,100,84,100,100,100,100,100,95,100,100,0,0,100,75,42,100,100,100,100,100,0,100,100,100,100,0,31,0;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,yes,no;Exon_count=.,7,9,1,19,7,7,17,4,1,13,10,1,4,6,1,1,6,3,34,16,7,1,13,11,17,27,1,35,4;Location=.,txStart-exon7,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-intron12,intron2-txEnd;Location2=.,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-CDS,UTR;Dist_nearest_SS=.,928,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3733,2349;Nearest_SS_type=.,3',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3',5';Intersect_start=.,72726578,72742163,72848107,72854735,72950685,72981866,73007531,73082160,73095247,73097926,73113539,73125646,73149398,73150423,73183326,73245325,73248919,73275488,73442502,73498133,73588685,73605527,73624335,73645831,73703736,73868235,74010294,74072043,74103270;Intersect_end=.,72742085,72772634,72850450,72936623,72972020,72992909,73038852,73086440,73097783,73112542,73133999,73125727,73150330,73153132,73184600,73247020,73256846,73280220,73484237,73536855,73611426,73605624,73644164,73668729,73820265,74016931,74010353,74139390,74139390;RE_gene=ACOX1_(morbid/RE=mTL_miRNA)|ACSL6_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AGTPBP1_(morbid/RE=mTL_miRNA)|AKR1D1_(morbid/RE=mTL_miRNA)|ALDH6A1_(morbid/RE=mTL_miRNA)|ALDOA_(morbid/RE=mTL_miRNA)|APC_(HI=3/morbid/RE=mTL_miRNA)|APTX_(morbid/RE=mTL_miRNA)|ARSK_(morbid/RE=mTL_miRNA)|ATL3_(morbid/RE=mTL_miRNA)|ATP13A3_(morbid/RE=mTL_miRNA)|ATP6V0A2_(morbid/RE=mTL_miRNA)|ATP6V1A_(morbid/RE=mTL_miRNA)|ATXN1_(morbid/RE=mTL_miRNA)|BACH1_(morbid/RE=mTL_miRNA)|BVES_(morbid/RE=mTL_miRNA)|C3_(morbid/RE=mTL_miRNA)|CAPN15_(morbid/RE=mTL_miRNA)|CASP10_(morbid/RE=mTL_miRNA)|CD3D_(morbid/RE=mTL_miRNA)|CDC73_(HI=3/morbid/RE=mTL_miRNA)|CDKN1B_(HI=3/morbid/RE=mTL_miRNA)|CHRNB1_(morbid/RE=mTL_miRNA)|CISD2_(morbid/RE=mTL_miRNA)|CITED2_(morbid/RE=mTL_miRNA)|CLEC7A_(morbid/RE=mTL_miRNA)|CLN8_(morbid/RE=mTL_miRNA)|COL18A1_(morbid/RE=mTL_miRNA)|COX20_(morbid/RE=mTL_miRNA)|COX6B1_(morbid/RE=mTL_miRNA)|CPE_(morbid/RE=mTL_miRNA)|CPT1A_(morbid/RE=mTL_miRNA)|CRIPT_(morbid/RE=mTL_miRNA)|CRTAP_(morbid/RE=mTL_miRNA)|CSNK1D_(morbid/RE=mTL_miRNA)|CTSB_(morbid/RE=mTL_miRNA)|CYCS_(morbid/RE=mTL_miRNA)|DARS2_(morbid/RE=mTL_miRNA)|DBR1_(morbid/RE=mTL_miRNA)|DNA2_(morbid/RE=mTL_miRNA)|DNAAF3_(morbid/RE=mTL_miRNA)|DNAJB13_(morbid/RE=mTL_miRNA)|DNAJC3_(morbid/RE=mTL_miRNA)|DSG3_(morbid/RE=mTL_miRNA)|EDARADD_(morbid/RE=mTL_miRNA)|EIF2S3_(morbid/RE=mTL_miRNA)|EIF4A2_(morbid/RE=mTL_miRNA)|ELP2_(morbid/RE=mTL_miRNA)|EMP2_(morbid/RE=mTL_miRNA)...;P_gain_source=dbVar:nssv15146175|nssv15148276|dbVar:nssv15146450|dbVar:nssv15147327|dbVar:nssv17955524|dbVar:nssv17976654;P_gain_coord=7:72766114-74133473|7:72766313-74133327|7:72766314-74042787|7:72766314-74133332|7:73944169-74138459;P_loss_phen=Cutis_laxa,_AD,_123700_(3)_AD|Supravalvar_aortic_stenosis,_185500_(3)_AD|Leber-like_hereditary_optic_neuropathy,_AR_1,_619382_(3)_AR|Spermatogenic_failure_77,_620103_(3)_AR,.,Spermatogenic_failure_77,_620103_(3)_AR,.,.,.,.,.,.,Leber-like_hereditary_optic_neuropathy,_AR_1,_619382_(3)_AR,.,.,.,.,.,.,.,.,.,Cutis_laxa,_AD,_123700_(3)_AD|Supravalvar_aortic_stenosis,_185500_(3)_AD,.,.,.,.,.,.,.,.,.,.;P_loss_source=HI3:ELN|dbVar:nssv15128343|dbVar:nssv15128578|dbVar:nssv15130113|dbVar:nssv15130169|dbVar:nssv15140244|dbVar:nssv15141480|dbVar:nssv15145649|nssv15146804|nssv15153080|dbVar:nssv15146451|dbVar:nssv15146687|dbVar:nssv15146708|dbVar:nssv15151951|nssv15605841|dbVar:nssv15167740|dbVar:nssv15770120|dbVar:nssv16208140|dbVar:nssv16213814|dbVar:nssv16214480|dbVar:nssv16214500|dbVar:nssv17172745|dbVar:nssv17172746|dbVar:nssv17955650|dbVar:nssv17971140|dbVar:nssv18786274|dbVar:nssv18791884|dbVar:nssv18791887|morbid:DNAJC30|morbid:ELN|morbid:FKBP6,.,morbid:FKBP6,.,.,.,.,.,.,morbid:DNAJC30,.,.,.,.,.,.,.,.,.,dbVar:nssv15128578|dbVar:nssv15770120|dbVar:nssv16214480|dbVar:nssv16214500|dbVar:nssv17172746|dbVar:nssv17971140|dbVar:nssv18786274|dbVar:nssv18791884|dbVar:nssv18791887|morbid:ELN,.,.,.,.,.,.,.,.,.,.;P_loss_coord=7:72726579-74139390|7:72742164-72772634|7:72766114-74133473|7:72766313-74133327|7:72766314-74133332|7:72772523-74133319|7:72996565-73597315|7:73023063-73524207|7:73095248-73097783|7:73150890-73604636|7:73187644-73501025|7:73442120-73484237|7:73442459-73483087|7:73442499-73442619|7:73442499-73483050|7:73442503-73484237|7:73442509-73483040|7:73442519-73449764|7:73442519-73483030|7:73444331-73476493|7:73449675-73483050|7:73461986-73483030|7:73470471-73498327|7:73471703-73483040|7:73482968-73483050|7:73482988-73484237|7:73791726-74133273,.,7:72742164-72772634,.,.,.,.,.,.,7:73095248-73097783,.,.,.,.,.,.,.,.,.,7:73442503-73484237|7:73442509-73483040|7:73442519-73449764|7:73442519-73483030|7:73444331-73476493|7:73449675-73483050|7:73461986-73483030|7:73471703-73483040|7:73482968-73483050|7:73482988-73484237,.,.,.,.,.,.,.,.,.,.;po_P_gain_phen=7q11.23_recurrent_(Williams-Beuren_syndrome)_region_(includes_ELN);po_P_gain_source=dbVar:nssv15777247|dbVar:nssv15168013|dbVar:nssv15161666|nssv15161679|dbVar:nssv15168014|dbVar:nssv15146013|dbVar:nssv15146778|dbVar:nssv15147714|dbVar:nssv15147012|dbVar:nssv15147013|dbVar:nssv15755212|dbVar:nssv15147334|dbVar:nssv15151509|dbVar:nssv15154519|dbVar:nssv15152109|dbVar:nssv15153678|dbVar:nssv15148173|dbVar:nssv15149887|dbVar:nssv15147399|dbVar:nssv15148904|dbVar:nssv15174166|dbVar:nssv15128409|dbVar:nssv15150793|dbVar:nssv16254014|dbVar:nssv15148877|dbVar:nssv18830985|dbVar:nssv15147014|dbVar:nssv15149513|dbVar:nssv15146773|dbVar:nssv15151227|dbVar:nssv15147017|dbVar:nssv15146395|dbVar:nssv15147458|dbVar:nssv15126184|dbVar:nssv17976854|dbVar:nssv15150228|dbVar:nssv15147556|dbVar:nssv15146449|dbVar:nssv15151508|dbVar:nssv15150733|dbVar:nssv15154518|dbVar:nssv17955880|dbVar:nssv18830970|dbVar:nssv15146933|dbVar:nssv16215249|dbVar:nssv15167739|TS3:ISCA-37392|dbVar:nssv15148970;po_P_gain_coord=7:10366-159119707|7:10705-159122532|7:43362-159119707|7:44936-159126310|7:62437464-75044630|7:71644078-78793387|7:71968213-74133332|7:72196406-74991125|7:72233836-74285345|7:72364527-73780265|7:72408603-74193374|7:72576873-74175429|7:72577022-74147166|7:72577022-74197846|7:72577022-74859638|7:72589516-74154603|7:72589516-74165401|7:72606410-74193403|7:72606410-74300084|7:72606451-74153206|7:72650008-74188572|7:72659675-74143240|7:72659675-74164894|7:72663963-74193403|7:72664462-74162586|7:72665463-74139573|7:72677174-74143140|7:72677302-74143060|7:72677302-74143240|7:72679398-74139573|7:72683245-74267189|7:72685735-74142327|7:72685764-74189674|7:72686959-74155067|7:72692113-74154497|7:72700128-74146858|7:72700415-74139573|7:72700525-74069858|7:72700525-74142256|7:72701019-74143240|7:72717346-74133310|7:72718278-74142256|7:72718279-74140708|7:72722982-74141840|7:72743984-74145064|7:72744456-74142510|7:72766314-74481540;po_P_gain_percent=0.89|0.89|0.89|0.89|11.21|19.76|64.97|50.55|68.87|74.43|79.16|88.38|89.98|87.17|61.89|90.27|89.65|89.02|83.42|91.34|91.83|95.23|93.86|92.37|94.31|95.84|96.37|96.39|96.38|96.76|89.20|96.99|93.94|96.23|96.61|97.66|98.17|98.10|97.99|97.96|99.35|99.22|99.32|99.57|99.60|99.78|80.05;po_P_loss_phen=7q11.23_recurrent_(Williams-Beuren_syndrome)_region_(includes_ELN);po_P_loss_source=dbVar:nssv15161318|dbVar:nssv15148211|dbVar:nssv15147057|dbVar:nssv15147200|dbVar:nssv16255682|dbVar:nssv15146320|dbVar:nssv15146676|dbVar:nssv16867365|dbVar:nssv15167734|dbVar:nssv15146211|dbVar:nssv16254015|dbVar:nssv15151112|dbVar:nssv15145801|dbVar:nssv15152099|dbVar:nssv17977008|dbVar:nssv15151511|dbVar:nssv17977009|dbVar:nssv15145887|dbVar:nssv15147427|dbVar:nssv15153677|dbVar:nssv15154521|dbVar:nssv16208139|dbVar:nssv15145827|dbVar:nssv15148206|dbVar:nssv15151289|dbVar:nssv18330757|dbVar:nssv15125131|dbVar:nssv17977011|dbVar:nssv15167735|dbVar:nssv15148192|dbVar:nssv15167736|dbVar:nssv15168977|dbVar:nssv18330770|dbVar:nssv16215159|dbVar:nssv15129678|dbVar:nssv15147158|dbVar:nssv15606134|dbVar:nssv15145898|dbVar:nssv15151092|dbVar:nssv15755220|dbVar:nssv17977017|dbVar:nssv15147160|dbVar:nssv15147159|dbVar:nssv15145802|dbVar:nssv15147457|dbVar:nssv15148226|dbVar:nssv15147515|dbVar:nssv15147502|dbVar:nssv15148195|dbVar:nssv15147550|dbVar:nssv17977015|dbVar:nssv15605840|dbVar:nssv17977014|dbVar:nssv15149859|dbVar:nssv17977016|dbVar:nssv15150016|dbVar:nssv15146951|dbVar:nssv16297072|dbVar:nssv18830737|dbVar:nssv15154517|nssv17977012|dbVar:nssv17977007|dbVar:nssv15146637|dbVar:nssv15149107|dbVar:nssv15150231|dbVar:nssv15150699|dbVar:nssv15150637|dbVar:nssv15151346|dbVar:nssv15148257|nssv17977121|dbVar:nssv15150643|dbVar:nssv15149860|dbVar:nssv15151090|dbVar:nssv18329614|dbVar:nssv18330419|dbVar:nssv18330223|dbVar:nssv15167737|dbVar:nssv15605774|dbVar:nssv8640006|dbVar:nssv15167738|dbVar:nssv15147726|dbVar:nssv15755221|HI3:ISCA-37392|dbVar:nssv15605838|dbVar:nssv15605839|dbVar:nssv15147324|dbVar:nssv15147329|dbVar:nssv15145670|dbVar:nssv15145679|nssv15146800|dbVar:nssv15146612|dbVar:nssv17977013|dbVar:nssv15124428|dbVar:nssv15776001|dbVar:nssv15120782|dbVar:nssv15148954|dbVar:nssv15147202;po_P_loss_coord=7:54186-159075079|7:62196743-75061986|7:68133295-72806397|7:68847340-77453149|7:68977231-73939510|7:70690331-81364973|7:70926113-72806397|7:71847969-73391310|7:72305672-74196360|7:72401087-74285345|7:72403118-76709600|7:72456605-76007380|7:72507130-74142327|7:72536981-74629034|7:72589196-74225562|7:72589516-74386749|7:72589516-74629034|7:72606410-74193403|7:72606410-74285345|7:72608515-74386749|7:72612043-74574641|7:72621723-76007380|7:72636007-74339014|7:72637825-74203685|7:72643632-74142190|7:72643633-74143060|7:72644632-74144422|7:72645014-74142190|7:72650107-74138603|7:72650121-74142256|7:72650266-74138603|7:72653307-74134911|7:72654783-74142190|7:72657229-74160300|7:72677238-74144422|7:72681398-74137354|7:72682339-74141250|7:72685735-74142327|7:72691243-74142190|7:72699383-74142329|7:72700128-74142190|7:72700415-74122179|7:72700415-74137354|7:72700415-74139573|7:72700415-74142327|7:72700415-74172913|7:72700415-74193403|7:72700415-74285345|7:72700511-74142190|7:72700525-74141494|7:72700943-74142190|7:72700997-74142190|7:72700997-74142256|7:72701019-74141493|7:72701085-74142190|7:72708238-74133273|7:72708238-74339044|7:72717370-74142224|7:72717396-74173168|7:72718124-74141784|7:72718124-74142190|7:72718253-74133273|7:72718253-74133332|7:72718278-73898515|7:72718278-74141494|7:72718278-74141603|7:72718278-74141746|7:72718278-74142190|7:72718278-74146858|7:72718278-74259899|7:72718278-74287433|7:72718279-74142256|7:72718279-74143060|7:72718279-74143240|7:72719387-74218536|7:72721450-73959106|7:72722982-74141840|7:72722982-74200092|7:72722982-74217390|7:72726591-74142329|7:72744456-74142510|7:72744495-74339044|7:72744495-76038818|7:72766313-74193397|7:72766313-74339030|7:72766314-74285345|7:72766314-74339044|7:72766314-76351578|7:72921551-74145628|7:73591994-75914797|7:73799887-75388031|7:73992745-74991125|7:73992745-81661058|7:73992745-83618176;po_P_loss_percent=0.89|10.98|1.71|16.42|24.44|13.24|4.25|43.07|74.72|74.98|32.81|39.79|86.40|67.53|86.34|78.61|69.27|89.02|84.15|79.45|71.99|41.73|82.96|90.23|94.28|94.22|94.20|94.37|94.86|94.68|94.87|95.05|94.98|93.99|96.29|96.90|96.84|96.99|97.37|97.91|97.97|98.16|98.18|98.17|97.98|95.95|94.63|89.14|98.00|98.05|98.03|98.03|98.03|98.08|98.04|98.71|86.63|99.15|97.05|99.24|99.21|99.41|99.41|99.30|99.27|99.26|99.25|99.22|98.90|91.64|90.04|99.22|99.16|99.15|94.24|99.59|99.57|95.65|94.54|99.79|99.78|87.48|42.34|96.22|87.31|90.39|87.31|38.30|99.49|23.57|21.38|14.69|1.91|1.52;P_snvindel_nb=104,.,1,.,.,.,.,.,.,1,.,1,.,.,.,.,.,.,.,101,.,.,.,.,.,.,.,.,.,.;P_snvindel_phen=Autism|Cutis_laxa,_autosomal_dominant_1|DNAJC30-associated_disorder|ELN-related_condition|Inborn_genetic_diseases|Intellectual_disability|Leber_hereditary_optic_neuropathy,_autosomal_recessive|Leber_optic_atrophy,_susceptibility_to|Male_infertility|Spermatogenic_failure_77|Supravalvar_aortic_stenosis|Williams_syndrome,.,Male_infertility|Spermatogenic_failure_77,.,.,.,.,.,.,DNAJC30-associated_disorder|Leber_hereditary_optic_neuropathy,_autosomal_recessive|Leber_optic_atrophy,_susceptibility_to,.,Autism|Intellectual_disability,.,.,.,.,.,.,.,Cutis_laxa,_autosomal_dominant_1|ELN-related_condition|Inborn_genetic_diseases|Supravalvar_aortic_stenosis|Williams_syndrome,.,.,.,.,.,.,.,.,.,.;B_gain_source=.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar;B_gain_coord=.,chr7:72708999-74058000|chr7:72719000-72789000,chr7:72708999-74058000|chr7:72719000-72789000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000|chr7:74008364-74140675,chr7:74008364-74140675,chr7:74008364-74140675;B_gain_AFmax=.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01;B_loss_source=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,.,.,.,.,.,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.;B_loss_coord=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr7:73157999-73206000,.,.,.,.,.,chr7:73504792-73813060,chr7:73504792-73813060,chr7:73504792-73813060,chr7:73504792-73813060,.,.,.,.,.;B_loss_AFmax=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.01,.,.,.,.,.,0.01,0.01,0.01,0.01,.,.,.,.,.;B_inv_source=IMH;B_inv_coord=7:66631329-143298938|7:67635774-98083201;B_inv_AFmax=0.5;po_B_gain_someG_source=chr7:72708999-74058000_dbVar|chr7:72726800-72740359_dbVar|chr7:72745614-72754503_dbVar|chr7:72774000-72782000_dbVar|chr7:72787000-72831100_dbVar|chr7:72816500-72830000_dbVar|chr7:72998471-72999058_dbVar|chr7:73055007-73067523_dbVar|chr7:73197500-73235415_dbVar|chr7:73225900-73232279_dbVar|chr7:73276238-73276581_dbVar|chr7:73299213-73301668_dbVar|chr7:73393992-73394499_dbVar|chr7:73499000-73506000_dbVar|chr7:73546829-73546880_dbVar|chr7:73583293-73584013_dbVar|chr7:73658948-73659640_dbVar|chr7:73674630-73681367_dbVar|chr7:73787553-73825589_dbVar|chr7:73831000-73836000_dbVar...;po_B_gain_someG_coord=chr7:72400589-72727075_dbVar|chr7:72719000-72789000_dbVar|chr7:72729000-72748000_dbVar|chr7:72767887-72767960_dbVar|chr7:72783612-72807457_dbVar|chr7:72811900-72819000_dbVar|chr7:72970000-72975000_dbVar|chr7:73014621-73015093_dbVar|chr7:73056768-73064674_dbVar|chr7:73220636-73223168_dbVar|chr7:73267370-73271012_dbVar|chr7:73283850-73286300_dbVar|chr7:73331000-73347000_dbVar|chr7:73432596-73433429_dbVar|chr7:73542648-73543250_dbVar|chr7:73581149-73582488_dbVar|chr7:73628409-73628785_dbVar|chr7:73660000-73666300_dbVar|chr7:73686041-73691825_dbVar|chr7:73815308-73815574_dbVar...;po_B_loss_someG_source=chr7:72788610-72788928_dbVar|chr7:72792927-72794734_dbVar|chr7:72807457-72811747_dbVar|chr7:72809374-72811765_dbVar|chr7:72831507-72833102_dbVar|chr7:72831655-72833172_dbVar|7:72859067-72859930_DDD:24502|chr7:72859126-72859948_dbVar|chr7:72958486-72958582_dbVar|chr7:72976072-72983729_dbVar|chr7:73003322-73003446_dbVar|chr7:73047101-73047474_dbVar|chr7:73062999-73081000_dbVar|chr7:73072977-73073093_dbVar|chr7:73106347-73106427_dbVar|chr7:73157999-73206000_dbVar|chr7:73190196-73190548_dbVar|chr7:73196830-73198271_dbVar|chr7:73211482-73211654_dbVar|chr7:73223050-73223264_dbVar...;po_B_loss_someG_coord=chr7:72783921-72784587_dbVar|chr7:72790491-72790586_dbVar|chr7:72806431-72813279_dbVar|chr7:72809373-72811754_dbVar|7:72809386-72811787_DDD:24500|7:72831554-72833141_DDD:24501|chr7:72850871-72854146_dbVar|chr7:72859093-72859952_dbVar|chr7:72955017-72955274_dbVar|chr7:72962422-72963182_dbVar|chr7:73002815-73002896_dbVar|chr7:73023279-73023954_dbVar|chr7:73054513-73055107_dbVar|chr7:73065479-73067124_dbVar|chr7:73090809-73093167_dbVar|chr7:73146454-73146754_dbVar|chr7:73173329-73173399_dbVar|chr7:73196779-73198220_dbVar|chr7:73211482-73211632_dbVar|chr7:73222000-73236000_dbVar...;Cosmic_ID=877501|108118|324755|325086|500342|500863|500908|302773|303106|303125|484486|484953|484961|484998|485028|554297|554388|554400|554408|554410|554411|554412|652674|513717|232773|232999|491805|491889|491904|622919|622936|79946|80091|80098|80110|1189277|1371704|2784756|838538|280114|281928|282158|844585|730219|575489|575912|575922|575950|576011|576029|477922|...,.,.,.,529378,.,.,730221|733450|733479|776773,.,.,.,.,.,.,.,.,.,776775,.,.,596146|596546,520421|520564|521476,.,.,.,730235|1376904|311922|312170,287214|409861|257633|257740|257750|280118|596149|596444|598757|291764|291839|291840|730239,.,529379|525619|534294|538338|776782|778027|776783|777959|777979|777991,776783|777959|777979|777991;Cosmic_mut_typ=gain|loss,.,.,.,loss,.,.,loss,.,.,.,.,.,.,.,.,.,loss,.,.,loss,loss|gain,.,.,.,loss|gain,gain|loss,.,loss|gain,loss;GC_content_left=0.37;GC_content_right=0.355;Repeat_coord_left=7:72726181-72726486;Repeat_type_left=AluSz;SegDup_left=7:72700438-72744454|7:72700443-72744454;HI=3,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,0,.,.,.,.,.,0,.,0,.;TS=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,0,.,.,.,.,.,0,.,0,.;DDD_HI_percent=88.46,55.55,65.69,46.95,23.74,28.63,30.81,36.45,64.11,80.16,.,22.82,.,.,76.55,33.46,23.72,.,.,8.62,19.66,21.78,.,88.46,14.42,47.98,47.51,.,33.5,.;ExAC_delZ=1.77201404347458,.,.,0.247827425263201,1.02239565516008,1.05583278690403,-0.199291215312469,0.942636989769333,.,0.717396479665947,.,0.950800964625408,.,.,0.643446275430498,0.332553044404404,0.563064431580096,.,.,0.1188507761401,0.623604739936053,0.339580839486745,.,0.592710857132059,0.200864992787726,1.014608801418,1.77201404347458,.,.,.;ExAC_dupZ=0.0159631069818757,.,.,-1.18776035129969,0.0159631069818757,-0.553040364632404,-0.922199212243606,-0.774220086661663,.,-0.500797326082256,.,-0.794674734358171,.,.,-0.675433866559718,-0.966715148489597,-0.809178554455325,.,.,-1.61408470478924,-0.79212126645541,-0.49261121282204,.,-0.653878691847743,-0.430045328414053,-0.895566510532316,-0.0325005901648791,.,.,.;ExAC_cnvZ=0.491444562429841,.,.,-0.895389454591556,0.395552906953086,-0.0819162539430506,-0.751016280020485,-0.327638361779731,.,-0.15204008716984,.,-0.324619004824717,.,.,-0.327510119466819,-0.688425296234703,-0.46244511082827,.,.,-1.04153334326364,-0.396805714672051,-0.247951312124761,.,-0.292110083865967,-0.225638310792768,-0.401705936344982,0.491444562429841,.,.,.;ExAC_synZ=2.70903614483931,0.317380023327075,1.49986407027643,.,-0.902054979760057,-0.44503506022657,0.200201742907301,0.58127606528246,-0.0288746954043306,1.08623431117684,.,1.10438995088098,.,.,1.09331776236833,2.70903614483931,-0.0167724140747313,.,.,-0.09395744769762,-0.48782967368913,-0.250271670703448,.,0.385787155434006,-0.430513909559958,-0.746648021563001,0.977775575032158,.,0.964550444182401,.;ExAC_misZ=4.23220859072885,0.681275321847818,1.4396607305099,.,4.05717005254254,1.74981493260157,0.554223709974506,1.2288879277127,0.953055172354045,1.71697083676563,.,3.33806479625907,.,.,0.473373375061211,1.92914089110849,0.933080799622852,.,.,-0.0129976080826519,2.85746490313868,3.27930650064444,.,-0.303087706786894,1.53581142075512,2.45305749434808,2.53365459317235,.,4.23220859072885,.;GenCC_disease=.,.,spermatogenic_failure_77,.,autism_spectrum_disorder,.,.,.,.,Leber_hereditary_optic_neuropathy|Leber_hereditary_optic_neuropathy,_autosomal_recessive,.,.,.,.,.,.,.,.,.,autosomal_dominant_cutis_laxa|cutis_laxa,_autosomal_dominant_1|supravalvular_aortic_stenosis,.,.,.,.,.,.,.,.,.,.;GenCC_moi=.,.,AR,.,AD,.,.,.,.,AR|MT,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,.,.,.,.;GenCC_classification=.,.,Moderate,.,Limited,.,.,.,.,Limited|Strong|Supportive,.,.,.,.,.,.,.,.,.,Definitive|Strong|Supportive,.,.,.,.,.,.,.,.,.,.;GenCC_pmid=.,.,.,.,.,.,.,.,.,33465056|33465056[PMID],.,.,.,.,.,.,.,.,.,10190324|10190538|10942104[PMID]_19844261[PMID]|11175284|11735026|16085695[PMID]_18348261[PMID]|18348261|19844261|21309044|23442826|27866049|28383366|31560829|8132745|8364568|8541862|9215670|9215671,.,.,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,135892,8468,8326,9031,9275,26608,51085,155382,84277,114049,6804,100422948,171022,83451,1365,1364,155368,135886,2006,3984,7458,693175,7462,5982,7461,9569,113218504,2969,101926943;OMIM_ID=604839|618202|130160,.,604839,.,.,.,.,.,.,618202,.,.,.,.,.,.,.,.,.,130160,.,.,.,.,.,.,.,.,.,.;OMIM_phenotype=.,.,Spermatogenic_failure_77,_620103_(3)_AR,.,.,.,.,.,.,Leber-like_hereditary_optic_neuropathy,_AR_1,_619382_(3)_AR,.,.,.,.,.,.,.,.,.,Cutis_laxa,_AD,_123700_(3)_AD|Supravalvar_aortic_stenosis,_185500_(3)_AD,.,.,.,.,.,.,.,.,.,.;OMIM_inheritance=.,.,AR,.,.,.,.,.,.,AR,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,.,.,.,.;OMIM_morbid=yes,.,yes,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.;LOEUF_bin=0,7,5,4,0,3,4,2,1,7,.,1,.,.,5,4,9,.,.,4,0,2,.,4,5,0,1,.,1,.;GnomAD_pLI=1,1.5479e-10,1.3955e-06,0.0019309,1,0.18519,0.00018452,0.047771,0.91622,0.023092,.,0.9785,.,.,0.0029581,0.52233,6.9789e-05,.,.,2.1429e-14,0.99937,0.43982,.,0.00022295,2.2054e-06,0.99997,0.90039,.,0.99592,.;ExAC_pLI=1,2.7256e-06,0.1306,.,1,0.70664,0.0043765,0.67682,0.65635,0.0047983,.,0.91048,.,.,9.0329e-06,0.67854,0.00013716,.,.,1.52e-05,0.9909,0.92254,.,0.00069106,4.0421e-05,0.99988,0.99643,.,0.99935,.;AnnotSV_ranking_score=1.45;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3B_(29_genes,_+0.45)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=74139390;SVLEN=-1412811 GT 1/. +8 7169491 . G . PASS AnnotSV_ID=8_7169491_7753583_DEL_1;SV_start=7169491;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p23.1;Gene_name=FAM66B|DEFB109B|USP17L1|USP17L4|ZNF705G|DEFB4B|DEFB103B|SPAG11B|DEFB104B|DEFB106B|DEFB105B|DEFB107B|PRR23D1|FAM90A7|FAM90A22|FAM90A23|FAM90A14|FAM90A18|FAM90A16|FAM90A8|FAM90A17|FAM90A19|FAM90A9|FAM90A10|PRR23D2|DEFB107A|DEFB105A|DEFB106A|DEFB104A|SPAG11A|DEFB103A|DEFB4A,FAM66B,DEFB109B,USP17L1,USP17L4,ZNF705G,DEFB4B,DEFB103B,SPAG11B,DEFB104B,DEFB106B,DEFB105B,DEFB107B,PRR23D1,FAM90A7,FAM90A22,FAM90A23,FAM90A14,FAM90A18,FAM90A16,FAM90A8,FAM90A17,FAM90A19,FAM90A9,FAM90A10,PRR23D2,DEFB107A,DEFB105A,DEFB106A,DEFB104A,SPAG11A,DEFB103A,DEFB4A;Closest_left=LINC00965;Closest_right=ZNF705B;Gene_count=32;Tx=.,NR_027423,NM_001037380,NM_001256873,NM_001256874,NM_001164457,NM_001205266,NM_018661,NM_058201,NM_001040702,NM_001040704,NM_001040703,NM_001040705,NM_001282479,NM_001397387,NM_001397382,NM_001397380,NM_001164452,NM_001164451,NM_001397396,NM_001164450,NM_001397391,NM_001164449,NM_001164448,NM_001164447,NM_001282478,NM_001037668,NM_152250,NM_152251,NM_080389,NM_001395484,NM_001081551,NM_004942;Tx_version=.,2,2,1,1,3,2,4,4,1,2,3,2,1,1,1,1,1,1,1,1,1,1,1,1,1,1,3,4,3,1,4,4;Tx_start=.,7156265,7170243,7189908,7194636,7213038,7272376,7286409,7308124,7327829,7340025,7345200,7353432,7397148,7414221,7429516,7437165,7572964,7580612,7588260,7595908,7603555,7611203,7618851,7626498,7636112,7669241,7678525,7682660,7693957,7705529,7738913,7752198;Tx_end=.,7212885,7177618,7191501,7196229,7243080,7274385,7287870,7321064,7332604,7343922,7347115,7366833,7399972,7417234,7432528,7440175,7575975,7583623,7591271,7598918,7606566,7614214,7621862,7629510,7638935,7673238,7681402,7686575,7698764,7718465,7740185,7754238;Overlapped_tx_length=.,43395,7375,1593,1593,30042,2009,1461,12940,4775,3897,1915,13401,2824,3013,3012,3010,3011,3011,3011,3010,3011,3011,3011,3012,2823,3997,2877,3915,4807,12936,1272,1385;Overlapped_CDS_length=.,0,264,1593,1593,903,195,204,402,219,198,237,213,840,1395,1395,1395,1395,1395,1395,1395,1395,1395,1395,1395,840,213,237,198,219,402,204,58;Overlapped_CDS_percent=.,0,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,29;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,yes;Exon_count=.,7,2,1,1,7,2,2,3,2,2,3,2,4,4,4,4,4,4,4,4,4,4,4,4,4,2,3,2,2,3,2,2;Location=.,txStart-intron6,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-intron1;Location2=.,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-CDS;Dist_nearest_SS=.,9797,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,412;Nearest_SS_type=.,3',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3';Intersect_start=.,7169490,7170243,7189908,7194636,7213038,7272376,7286409,7308124,7327829,7340025,7345200,7353432,7397148,7414221,7429516,7437165,7572964,7580612,7588260,7595908,7603555,7611203,7618851,7626498,7636112,7669241,7678525,7682660,7693957,7705529,7738913,7752198;Intersect_end=.,7212885,7177618,7191501,7196229,7243080,7274385,7287870,7321064,7332604,7343922,7347115,7366833,7399972,7417234,7432528,7440175,7575975,7583623,7591271,7598918,7606566,7614214,7621862,7629510,7638935,7673238,7681402,7686575,7698764,7718465,7740185,7753583;RE_gene=MCPH1_(morbid/RE=ABC_enhancer+GH_promoter_enhancer);po_P_gain_source=dbVar:nssv15169207|dbVar:nssv15128680|dbVar:nssv15161508|dbVar:nssv15161747|dbVar:nssv17976867|dbVar:nssv17957391|dbVar:nssv15154583|dbVar:nssv15161801|nssv15777239|nssv17976962|dbVar:nssv15154584|dbVar:nssv16206921|dbVar:nssv15154580|dbVar:nssv15161417|nssv15161657|dbVar:nssv15147671|dbVar:nssv15161846|dbVar:nssv15150473|dbVar:nssv15127651|dbVar:nssv15149098|dbVar:nssv15169210|dbVar:nssv15154582|dbVar:nssv15146537|dbVar:nssv15161807|dbVar:nssv15161553|dbVar:nssv15161105|dbVar:nssv15161095|dbVar:nssv15161561|dbVar:nssv15161078|dbVar:nssv15147455|dbVar:nssv16736635|dbVar:nssv15161269|dbVar:nssv15161748|dbVar:nssv15161749|dbVar:nssv15143576|dbVar:nssv15161775|dbVar:nssv15146180|dbVar:nssv15161087|dbVar:nssv15161068|dbVar:nssv15161792|dbVar:nssv15606063|dbVar:nssv15151542|dbVar:nssv15161084|dbVar:nssv16206931|dbVar:nssv15154577|dbVar:nssv15161089|dbVar:nssv15151538|dbVar:nssv15152254|dbVar:nssv18842054|dbVar:nssv15161540|dbVar:nssv15161727|dbVar:nssv15161764;po_P_gain_coord=8:10214-146293414|8:13939-146304022|8:46311-11879315|8:46311-30472220|8:158049-10348413|8:158049-11936107|8:158049-13974319|8:158049-146295771|8:158049-15423270|8:158049-8102819|8:158049-9750676|8:158050-146295771|8:158992-13304906|8:158992-146280828|8:158992-17536147|8:163683-46938942|8:164985-11860845|8:164985-146293414|8:168484-13147575|8:169854-10022996|8:176453-12556063|8:176453-12570496|8:176453-146294098|8:176453-16137655|8:176453-34349408|8:176453-37879246|8:176453-7838959|8:176815-43396776|8:191531-146274835|8:191531-146280020|8:191531-17536206|8:191531-22404983|8:191531-23055911|8:191531-7752586|8:191606-146280167|8:191606-24514484|8:191606-30948590|8:194618-13947374|8:1825201-24533193|8:6961184-12157391|8:6999220-11895232|8:6999220-11898980|8:6999220-38553064|8:6999220-8881836|8:7053187-11805960|8:7080282-12045269|8:7169491-12404062|8:7268820-12039974|8:7691902-12039974;po_P_gain_percent=0.40|0.40|4.94|1.92|5.73|4.96|4.23|0.40|3.83|7.35|6.09|0.40|4.44|0.40|3.36|1.25|4.99|0.40|4.50|5.93|4.72|4.71|0.40|3.66|1.71|1.55|7.62|1.35|0.40|0.40|3.37|2.63|2.55|7.71|0.40|2.40|1.90|4.25|2.57|11.24|11.93|11.92|1.85|31.03|12.29|11.76|11.16|10.16|1.42;po_P_loss_source=dbVar:nssv15168702|dbVar:nssv15169206|dbVar:nssv18842057|dbVar:nssv17956019|dbVar:nssv15154581|dbVar:nssv18326425|dbVar:nssv15149861|dbVar:nssv15775686|dbVar:nssv17976739|dbVar:nssv16208166|dbVar:nssv15774257|dbVar:nssv15149509|dbVar:nssv18330306|dbVar:nssv18329623|dbVar:nssv16216869|dbVar:nssv15169209|dbVar:nssv15223191|dbVar:nssv15147275|dbVar:nssv15148964|dbVar:nssv15147296|dbVar:nssv15146181|nssv15146816|dbVar:nssv15606064|dbVar:nssv15146660|dbVar:nssv18841910|dbVar:nssv15161264|nssv15161582|dbVar:nssv15145917|dbVar:nssv15161283|dbVar:nssv15161284|dbVar:nssv15161070|dbVar:nssv15141976|dbVar:nssv15161050;po_P_loss_coord=8:10214-10197718|8:10214-8948469|8:10502-11142629|8:10502-7214947|8:158049-10939681|8:158049-11281408|8:158049-13309069|8:158049-14214722|8:158049-30187456|8:158049-9025197|8:158049-9393052|8:158049-9749574|8:158050-10965627|8:158050-18936715|8:161517-11516619|8:164985-10007227|8:176815-7753583|8:191531-10049105|8:191531-10315994|8:191531-10724642|8:191531-7752586|8:194618-7787444|8:360370-7334625|8:399894-23712417|8:2292236-27361796|8:3791728-11384448|8:7053187-12241152|8:7092360-12372324|8:7169491-12404062|8:7268820-11805960|8:7268820-11819316;po_P_loss_percent=5.73|6.53|5.25|0.63|5.42|5.25|4.44|4.16|1.95|6.59|6.32|6.09|5.40|3.11|5.14|5.93|7.71|5.93|5.77|5.55|7.71|7.69|2.37|2.51|2.33|7.69|11.26|11.06|11.16|10.68|10.65;B_gain_source=DDD:26674|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|DDD:26742|DDD:26743|TS40:ISCA-37472|TS40:ISCA-46381|dbVar|dgv6936n100|esv2761169|esv2764098|gnomAD-SV_v2.1_DUP_8_23708,DDD:26674|DDD:26727|DDD:26729|DDD:26742|DDD:26743|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098;B_gain_coord=8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7474073,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7187516|chr8:7159226-7201223|chr8:7159226-7474073,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7201223|chr8:7159226-7474073|chr8:7187516-7201223,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7201223|chr8:7159226-7474073|chr8:7187516-7201223,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|chr8:7206400-7253000,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7241528-7403182|8:7250369-7832042|chr8:7365000-7404400,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7404000-7437650,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7404000-7437650|chr8:7424800-7474000,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7424800-7474000,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7608000-7649500|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839|8:7718891-7784263|8:7734213-7856702|8:7737000-7743100|chr8:7737000-7743100|8:7737000-7743100,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839|8:7718891-7784263|8:7734213-7856702;B_gain_AFmax=0.2355;B_loss_source=DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|DDD:26683|HI40:ISCA-37472|dbVar|esv2675221|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|DDD:26687|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89341|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|HI40:ISCA-46380|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89353,DDD:26674|DDD:26727|HI40:ISCA-37472|HI40:ISCA-46380|HI40:ISCA-46382|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89353|gnomAD-SV_v2.1_DEL_8_89355;B_loss_coord=8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289|8:7158046-7189992|8:7158202-7189800,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289|8:7190892-7196288,8:6858816-8072303|8:6959834-8600711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eG_coord=8:6858816-8072303_esv2761169|8:6985776-7230992_DDD:26670|8:7035907-7428513_DDD:26675|chr8:7085462-7537934_dbVar|8:7158046-7189992_esv2675221|chr8:7175745-7175870_dbVar|8:7179583-7191032_1000g|chr8:7180382-7180743_dbVar|8:7190892-7196288_DDD:26687|8:7201000-7206400_gnomAD-SV_v2.1_DEL_8_89332|chr8:7212582-7227421_dbVar|8:7212583-7227421_esv3616116|chr8:7228000-7235000_dbVar|chr8:7276552-7277128_dbVar|8:7308244-7308706_DDD:26704|chr8:7355000-7363000_dbVar|chr8:7355293-7364762_dbVar|8:7355294-7364762_esv3616120|chr8:7402900-7419700_dbVar|chr8:7405950-7443050_dbVar...;Cosmic_ID=674618|1021421|1021422|646653|1520679|1915732|3052323|2599287|832406|665154|653853|679166|678976|663306|700319|654990|679312|646920|863772|653647|649616|671308|658988|675704|1023557|678564|857770|745967|654991|676140|783310|824013|870858|820152|834536|871873|875246|654992|701040|665155|745968|682446|745969|702113|890458|732002|921361|909011|880183|1018294|925302|...,.,.,.,.,1023557|745967|654991|676140|745968|732002,.,.,.,.,.,.,603719|849088|921364,.,.,.,.,.,.,.,.,.,.,.,.,.,682133,.,.,.,.,.,.;Cosmic_mut_typ=loss|gain,.,.,.,.,loss|gain,.,.,.,.,.,.,gain,.,.,.,.,.,.,.,.,.,.,.,.,.,gain,.,.,.,.,.,.;GC_content_left=0.26;GC_content_right=0.33;SegDup_left=8:7150797-7184572|8:7150797-7195814|8:7150797-7200543|8:7150798-7238459;SegDup_right=8:7600001-7825413;ENCODE_blacklist_left=8:7012601-8066200;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=8:7012601-8066200;ENCODE_blacklist_characteristics_right=High_Signal_Region;DDD_HI_percent=99.72,.,.,.,.,91.1,99.72,85.97,89.4,95.66,93.29,90.95,91.71,.,.,.,.,.,.,.,.,.,.,.,.,.,92.48,90.61,90.45,96.98,97.15,93.4,97.87;ExAC_synZ=2.14121257165536,.,.,.,.,-1.59751875296103,.,.,2.14121257165536,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.918523398770926,0.676417083229402,1.33624136747443,0.140072348156658,.,1.12959151611996;ExAC_misZ=2.19863945242443,.,.,.,.,-3.97736276921453,.,.,1.8677219993927,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.008093353918723,1.6332400949348,2.19863945242443,0.903069021299127,.,0.758429673080804;NCBI_gene_ID=.,100128890,641517,401447,645402,100131980,100289462,55894,10407,503618,503841,504180,503614,100131608,441317,645558,645572,645651,441326,441323,441324,728746,728753,441327,441328,100133251,245910,245908,245909,140596,653423,414325,1673;LOEUF_bin=8,.,.,.,.,9,9,.,9,9,9,9,.,8,.,.,.,.,.,.,.,.,.,.,.,.,9,8,9,9,9,.,9;GnomAD_pLI=0.4218,.,.,.,.,1.6471e-08,0.067977,.,0.027751,0.33176,0.081151,0.29184,.,0.4218,.,.,.,.,.,.,.,.,.,.,.,.,0.32633,0.37719,0.0085821,0.093748,6.9645e-05,.,0.0011637;ExAC_pLI=0.51947,.,.,.,.,4.2486e-09,.,.,0.047238,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.43625,0.40931,0.51947,0.039012,.,0.39981;AnnotSV_ranking_score=-0.55;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3B_(32_genes,_+0.45)|5F_(+0.00);ACMG_class=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3;END=7753583;SVLEN=-584092 GT 1/. +8 7169491 . G . PASS AnnotSV_ID=8_7169491_7753583_DUP_1;SV_start=7169491;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p23.1;Gene_name=FAM66B|DEFB109B|USP17L1|USP17L4|ZNF705G|DEFB4B|DEFB103B|SPAG11B|DEFB104B|DEFB106B|DEFB105B|DEFB107B|PRR23D1|FAM90A7|FAM90A22|FAM90A23|FAM90A14|FAM90A18|FAM90A16|FAM90A8|FAM90A17|FAM90A19|FAM90A9|FAM90A10|PRR23D2|DEFB107A|DEFB105A|DEFB106A|DEFB104A|SPAG11A|DEFB103A|DEFB4A,FAM66B,DEFB109B,USP17L1,USP17L4,ZNF705G,DEFB4B,DEFB103B,SPAG11B,DEFB104B,DEFB106B,DEFB105B,DEFB107B,PRR23D1,FAM90A7,FAM90A22,FAM90A23,FAM90A14,FAM90A18,FAM90A16,FAM90A8,FAM90A17,FAM90A19,FAM90A9,FAM90A10,PRR23D2,DEFB107A,DEFB105A,DEFB106A,DEFB104A,SPAG11A,DEFB103A,DEFB4A;Closest_left=LINC00965;Closest_right=ZNF705B;Gene_count=32;Tx=.,NR_027423,NM_001037380,NM_001256873,NM_001256874,NM_001164457,NM_001205266,NM_018661,NM_058201,NM_001040702,NM_001040704,NM_001040703,NM_001040705,NM_001282479,NM_001397387,NM_001397382,NM_001397380,NM_001164452,NM_001164451,NM_001397396,NM_001164450,NM_001397391,NM_001164449,NM_001164448,NM_001164447,NM_001282478,NM_001037668,NM_152250,NM_152251,NM_080389,NM_001395484,NM_001081551,NM_004942;Tx_version=.,2,2,1,1,3,2,4,4,1,2,3,2,1,1,1,1,1,1,1,1,1,1,1,1,1,1,3,4,3,1,4,4;Tx_start=.,7156265,7170243,7189908,7194636,7213038,7272376,7286409,7308124,7327829,7340025,7345200,7353432,7397148,7414221,7429516,7437165,7572964,7580612,7588260,7595908,7603555,7611203,7618851,7626498,7636112,7669241,7678525,7682660,7693957,7705529,7738913,7752198;Tx_end=.,7212885,7177618,7191501,7196229,7243080,7274385,7287870,7321064,7332604,7343922,7347115,7366833,7399972,7417234,7432528,7440175,7575975,7583623,7591271,7598918,7606566,7614214,7621862,7629510,7638935,7673238,7681402,7686575,7698764,7718465,7740185,7754238;Overlapped_tx_length=.,43395,7375,1593,1593,30042,2009,1461,12940,4775,3897,1915,13401,2824,3013,3012,3010,3011,3011,3011,3010,3011,3011,3011,3012,2823,3997,2877,3915,4807,12936,1272,1385;Overlapped_CDS_length=.,0,264,1593,1593,903,195,204,402,219,198,237,213,840,1395,1395,1395,1395,1395,1395,1395,1395,1395,1395,1395,840,213,237,198,219,402,204,58;Overlapped_CDS_percent=.,0,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,29;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,yes;Exon_count=.,7,2,1,1,7,2,2,3,2,2,3,2,4,4,4,4,4,4,4,4,4,4,4,4,4,2,3,2,2,3,2,2;Location=.,txStart-intron6,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-intron1;Location2=.,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-CDS;Dist_nearest_SS=.,9797,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,412;Nearest_SS_type=.,3',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3';Intersect_start=.,7169490,7170243,7189908,7194636,7213038,7272376,7286409,7308124,7327829,7340025,7345200,7353432,7397148,7414221,7429516,7437165,7572964,7580612,7588260,7595908,7603555,7611203,7618851,7626498,7636112,7669241,7678525,7682660,7693957,7705529,7738913,7752198;Intersect_end=.,7212885,7177618,7191501,7196229,7243080,7274385,7287870,7321064,7332604,7343922,7347115,7366833,7399972,7417234,7432528,7440175,7575975,7583623,7591271,7598918,7606566,7614214,7621862,7629510,7638935,7673238,7681402,7686575,7698764,7718465,7740185,7753583;RE_gene=MCPH1_(morbid/RE=ABC_enhancer+GH_promoter_enhancer);po_P_gain_source=dbVar:nssv15169207|dbVar:nssv15128680|dbVar:nssv15161508|dbVar:nssv15161747|dbVar:nssv17976867|dbVar:nssv17957391|dbVar:nssv15154583|dbVar:nssv15161801|nssv15777239|nssv17976962|dbVar:nssv15154584|dbVar:nssv16206921|dbVar:nssv15154580|dbVar:nssv15161417|nssv15161657|dbVar:nssv15147671|dbVar:nssv15161846|dbVar:nssv15150473|dbVar:nssv15127651|dbVar:nssv15149098|dbVar:nssv15169210|dbVar:nssv15154582|dbVar:nssv15146537|dbVar:nssv15161807|dbVar:nssv15161553|dbVar:nssv15161105|dbVar:nssv15161095|dbVar:nssv15161561|dbVar:nssv15161078|dbVar:nssv15147455|dbVar:nssv16736635|dbVar:nssv15161269|dbVar:nssv15161748|dbVar:nssv15161749|dbVar:nssv15143576|dbVar:nssv15161775|dbVar:nssv15146180|dbVar:nssv15161087|dbVar:nssv15161068|dbVar:nssv15161792|dbVar:nssv15606063|dbVar:nssv15151542|dbVar:nssv15161084|dbVar:nssv16206931|dbVar:nssv15154577|dbVar:nssv15161089|dbVar:nssv15151538|dbVar:nssv15152254|dbVar:nssv18842054|dbVar:nssv15161540|dbVar:nssv15161727|dbVar:nssv15161764;po_P_gain_coord=8:10214-146293414|8:13939-146304022|8:46311-11879315|8:46311-30472220|8:158049-10348413|8:158049-11936107|8:158049-13974319|8:158049-146295771|8:158049-15423270|8:158049-8102819|8:158049-9750676|8:158050-146295771|8:158992-13304906|8:158992-146280828|8:158992-17536147|8:163683-46938942|8:164985-11860845|8:164985-146293414|8:168484-13147575|8:169854-10022996|8:176453-12556063|8:176453-12570496|8:176453-146294098|8:176453-16137655|8:176453-34349408|8:176453-37879246|8:176453-7838959|8:176815-43396776|8:191531-146274835|8:191531-146280020|8:191531-17536206|8:191531-22404983|8:191531-23055911|8:191531-7752586|8:191606-146280167|8:191606-24514484|8:191606-30948590|8:194618-13947374|8:1825201-24533193|8:6961184-12157391|8:6999220-11895232|8:6999220-11898980|8:6999220-38553064|8:6999220-8881836|8:7053187-11805960|8:7080282-12045269|8:7169491-12404062|8:7268820-12039974|8:7691902-12039974;po_P_gain_percent=0.40|0.40|4.94|1.92|5.73|4.96|4.23|0.40|3.83|7.35|6.09|0.40|4.44|0.40|3.36|1.25|4.99|0.40|4.50|5.93|4.72|4.71|0.40|3.66|1.71|1.55|7.62|1.35|0.40|0.40|3.37|2.63|2.55|7.71|0.40|2.40|1.90|4.25|2.57|11.24|11.93|11.92|1.85|31.03|12.29|11.76|11.16|10.16|1.42;po_P_loss_source=dbVar:nssv15168702|dbVar:nssv15169206|dbVar:nssv18842057|dbVar:nssv17956019|dbVar:nssv15154581|dbVar:nssv18326425|dbVar:nssv15149861|dbVar:nssv15775686|dbVar:nssv17976739|dbVar:nssv16208166|dbVar:nssv15774257|dbVar:nssv15149509|dbVar:nssv18330306|dbVar:nssv18329623|dbVar:nssv16216869|dbVar:nssv15169209|dbVar:nssv15223191|dbVar:nssv15147275|dbVar:nssv15148964|dbVar:nssv15147296|dbVar:nssv15146181|nssv15146816|dbVar:nssv15606064|dbVar:nssv15146660|dbVar:nssv18841910|dbVar:nssv15161264|nssv15161582|dbVar:nssv15145917|dbVar:nssv15161283|dbVar:nssv15161284|dbVar:nssv15161070|dbVar:nssv15141976|dbVar:nssv15161050;po_P_loss_coord=8:10214-10197718|8:10214-8948469|8:10502-11142629|8:10502-7214947|8:158049-10939681|8:158049-11281408|8:158049-13309069|8:158049-14214722|8:158049-30187456|8:158049-9025197|8:158049-9393052|8:158049-9749574|8:158050-10965627|8:158050-18936715|8:161517-11516619|8:164985-10007227|8:176815-7753583|8:191531-10049105|8:191531-10315994|8:191531-10724642|8:191531-7752586|8:194618-7787444|8:360370-7334625|8:399894-23712417|8:2292236-27361796|8:3791728-11384448|8:7053187-12241152|8:7092360-12372324|8:7169491-12404062|8:7268820-11805960|8:7268820-11819316;po_P_loss_percent=5.73|6.53|5.25|0.63|5.42|5.25|4.44|4.16|1.95|6.59|6.32|6.09|5.40|3.11|5.14|5.93|7.71|5.93|5.77|5.55|7.71|7.69|2.37|2.51|2.33|7.69|11.26|11.06|11.16|10.68|10.65;B_gain_source=DDD:26674|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|DDD:26742|DDD:26743|TS40:ISCA-37472|TS40:ISCA-46381|dbVar|dgv6936n100|esv2761169|esv2764098|gnomAD-SV_v2.1_DUP_8_23708,DDD:26674|DDD:26727|DDD:26729|DDD:26742|DDD:26743|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098;B_gain_coord=8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7474073,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7187516|chr8:7159226-7201223|chr8:7159226-7474073,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7201223|chr8:7159226-7474073|chr8:7187516-7201223,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7201223|chr8:7159226-7474073|chr8:7187516-7201223,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|chr8:7206400-7253000,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7241528-7403182|8:7250369-7832042|chr8:7365000-7404400,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7404000-7437650,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7404000-7437650|chr8:7424800-7474000,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7424800-7474000,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7608000-7649500|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839|8:7718891-7784263|8:7734213-7856702|8:7737000-7743100|chr8:7737000-7743100|8:7737000-7743100,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839|8:7718891-7784263|8:7734213-7856702;B_gain_AFmax=0.2355;B_loss_source=DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|DDD:26683|HI40:ISCA-37472|dbVar|esv2675221|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|DDD:26687|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89341|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|HI40:ISCA-46380|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89353,DDD:26674|DDD:26727|HI40:ISCA-37472|HI40:ISCA-46380|HI40:ISCA-46382|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89353|gnomAD-SV_v2.1_DEL_8_89355;B_loss_coord=8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289|8:7158046-7189992|8:7158202-7189800,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289|8:7190892-7196288,8:6858816-8072303|8:6959834-8600711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eG_coord=8:6858816-8072303_esv2761169|8:6985776-7230992_DDD:26670|8:7035907-7428513_DDD:26675|chr8:7085462-7537934_dbVar|8:7158046-7189992_esv2675221|chr8:7175745-7175870_dbVar|8:7179583-7191032_1000g|chr8:7180382-7180743_dbVar|8:7190892-7196288_DDD:26687|8:7201000-7206400_gnomAD-SV_v2.1_DEL_8_89332|chr8:7212582-7227421_dbVar|8:7212583-7227421_esv3616116|chr8:7228000-7235000_dbVar|chr8:7276552-7277128_dbVar|8:7308244-7308706_DDD:26704|chr8:7355000-7363000_dbVar|chr8:7355293-7364762_dbVar|8:7355294-7364762_esv3616120|chr8:7402900-7419700_dbVar|chr8:7405950-7443050_dbVar...;Cosmic_ID=674618|1021421|1021422|646653|1520679|1915732|3052323|2599287|832406|665154|653853|679166|678976|663306|700319|654990|679312|646920|863772|653647|649616|671308|658988|675704|1023557|678564|857770|745967|654991|676140|783310|824013|870858|820152|834536|871873|875246|654992|701040|665155|745968|682446|745969|702113|890458|732002|921361|909011|880183|1018294|925302|...,.,.,.,.,1023557|745967|654991|676140|745968|732002,.,.,.,.,.,.,603719|849088|921364,.,.,.,.,.,.,.,.,.,.,.,.,.,682133,.,.,.,.,.,.;Cosmic_mut_typ=loss|gain,.,.,.,.,loss|gain,.,.,.,.,.,.,gain,.,.,.,.,.,.,.,.,.,.,.,.,.,gain,.,.,.,.,.,.;GC_content_left=0.26;GC_content_right=0.33;SegDup_left=8:7150797-7184572|8:7150797-7195814|8:7150797-7200543|8:7150798-7238459;SegDup_right=8:7600001-7825413;ENCODE_blacklist_left=8:7012601-8066200;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=8:7012601-8066200;ENCODE_blacklist_characteristics_right=High_Signal_Region;DDD_HI_percent=99.72,.,.,.,.,91.1,99.72,85.97,89.4,95.66,93.29,90.95,91.71,.,.,.,.,.,.,.,.,.,.,.,.,.,92.48,90.61,90.45,96.98,97.15,93.4,97.87;ExAC_synZ=2.14121257165536,.,.,.,.,-1.59751875296103,.,.,2.14121257165536,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.918523398770926,0.676417083229402,1.33624136747443,0.140072348156658,.,1.12959151611996;ExAC_misZ=2.19863945242443,.,.,.,.,-3.97736276921453,.,.,1.8677219993927,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.008093353918723,1.6332400949348,2.19863945242443,0.903069021299127,.,0.758429673080804;NCBI_gene_ID=.,100128890,641517,401447,645402,100131980,100289462,55894,10407,503618,503841,504180,503614,100131608,441317,645558,645572,645651,441326,441323,441324,728746,728753,441327,441328,100133251,245910,245908,245909,140596,653423,414325,1673;LOEUF_bin=8,.,.,.,.,9,9,.,9,9,9,9,.,8,.,.,.,.,.,.,.,.,.,.,.,.,9,8,9,9,9,.,9;GnomAD_pLI=0.4218,.,.,.,.,1.6471e-08,0.067977,.,0.027751,0.33176,0.081151,0.29184,.,0.4218,.,.,.,.,.,.,.,.,.,.,.,.,0.32633,0.37719,0.0085821,0.093748,6.9645e-05,.,0.0011637;ExAC_pLI=0.51947,.,.,.,.,4.2486e-09,.,.,0.047238,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.43625,0.40931,0.51947,0.039012,.,0.39981;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2E_(cf_B_gain_source,_+0.00)|2L_(DEFB4A/FAM66B,_+0.00)|3A_(32_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1;END=7753583;SVLEN=584092 GT 1/. +8 56986130 . T . PASS AnnotSV_ID=8_56986130_57169684_DEL_1;SV_start=56986130;Biologist_annotation=VOUS_in_2017,_reclassified_in_2020;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split;CytoBand=q12.1;Gene_name=RPS20|SNORD54|CERNA3|MOS|PLAG1|CHCHD7,RPS20,SNORD54,CERNA3,MOS,PLAG1,CHCHD7;Closest_left=SNORA1B;Closest_right=SDR16C5;Gene_count=6;Tx=.,NM_001146227,NR_002437,NR_149110,NM_005372,NM_001114634,NM_001011668;Tx_version=.,3,1,1,1,2,3;Tx_start=.,56979812,56986397,56987150,57025500,57073467,57124347;Tx_end=.,56987065,56986460,56987833,57026541,57123832,57131368;Overlapped_tx_length=.,936,63,683,1041,50365,7021;Overlapped_CDS_length=.,177,0,0,1041,1503,333;Overlapped_CDS_percent=.,41,0,0,100,100,100;Frameshift=.,no,no,no,no,no,no;Exon_count=.,6,1,2,1,4,5;Location=.,txStart-intron3,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,5'UTR-CDS,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR;Dist_nearest_SS=.,124,.,.,.,.,.;Nearest_SS_type=.,5',.,.,.,.,.;Intersect_start=.,56986129,56986397,56987150,57025500,57073467,57124347;Intersect_end=.,56987065,56986460,56987833,57026541,57123832,57131368;RE_gene=LYN_(morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer+GH_promoter_enhancer);P_loss_phen=Adenomas,_salivary_gland_pleomorphic,_somatic,_181030_(3)|Silver-Russell_syndrome_4,_618907_(3)_AD|Oocyte|zygote|embryo_maturation_arrest_20,_620383_(3)_AR,.,.,.,Oocyte|zygote|embryo_maturation_arrest_20,_620383_(3)_AR,Adenomas,_salivary_gland_pleomorphic,_somatic,_181030_(3)|Silver-Russell_syndrome_4,_618907_(3)_AD,.;P_loss_source=morbid:MOS|morbid:PLAG1,.,.,.,morbid:MOS,morbid:PLAG1,.;P_loss_coord=8:57025501-57026541|8:57073468-57123832,.,.,.,8:57025501-57026541,8:57073468-57123832,.;po_P_gain_source=dbVar:nssv15169207|dbVar:nssv15128680|dbVar:nssv15161801|nssv15777239|nssv17976962|dbVar:nssv15161417|nssv15161657|dbVar:nssv15161846|dbVar:nssv15169210|dbVar:nssv15161105|dbVar:nssv15161269|dbVar:nssv15161748|dbVar:nssv15161087|dbVar:nssv15161426|dbVar:nssv15161357|dbVar:nssv15777249|dbVar:nssv15147495|dbVar:nssv15774700|dbVar:nssv15161758|dbVar:nssv15161797|dbVar:nssv15139743|dbVar:nssv15135704;po_P_gain_coord=8:10214-146293414|8:13939-146304022|8:158049-146295771|8:158050-146295771|8:158992-146280828|8:164985-146293414|8:176453-146294098|8:191531-146274835|8:191531-146280020|8:191606-146280167|8:12491000-146295771|8:21149034-146295771|8:31936552-146295771|8:36437622-60531557|8:39555658-64049089|8:46942957-70216022|8:46942963-140297737|8:53436132-65195953|8:56228415-65864987;po_P_gain_percent=0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.14|0.15|0.16|0.76|0.75|0.79|0.20|1.56|1.90;po_P_loss_source=dbVar:nssv15167540|dbVar:nssv15148967|dbVar:nssv15138741|dbVar:nssv15125104|dbVar:nssv15137960|dbVar:nssv15137390|dbVar:nssv15121489|dbVar:nssv15124419;po_P_loss_coord=8:49822484-58822602|8:50384338-58738029|8:54237950-62775577|8:54407102-58403572|8:55677511-57697858|8:55733918-62058861|8:56335974-59749312|8:56405321-57358911;po_P_loss_percent=2.04|2.20|2.15|4.59|9.09|2.90|5.38|19.25;po_B_gain_someG_source=8:57048633-57098412_1000g|chr8:57153249-57153357_dbVar|;po_B_gain_someG_coord=chr8:57048632-57098412_dbVar|chr8:57048719-57098544_dbVar|chr8:57161314-57168512_dbVar;po_B_loss_someG_source=chr8:56988070-56988448_dbVar|8:56988698-56989817_1000g|8:56988746-56989825_DDD:27790|chr8:56988762-56997935_dbVar|chr8:57005850-57007074_dbVar|chr8:57059737-57063078_dbVar|chr8:57160128-57168353_dbVar|chr8:57161314-57168512_dbVar;po_B_loss_someG_coord=chr8:56988017-57000275_dbVar|chr8:56988697-56989817_dbVar|chr8:56988709-56997905_dbVar|chr8:56988754-56989776_dbVar|8:56988763-56997935_1000g|chr8:57047231-57047490_dbVar|chr8:57154268-57155609_dbVar|chr8:57161113-57168156_dbVar;Cosmic_ID=848459|394952|394953|395216|227414|227459|534473|534774|534866|302857|580548|575671|484667|558558|471349|469505|335198|335303|335354|376852|376955|376962|376972|376977|564747|681488|259626|589430|571930|312032|312165|312226|312239|302858|303092|303101|303169|303182|303196|303201|280931|777179|855820|280932|282047|282072,.,.,.,.,280931|777179,.;Cosmic_mut_typ=loss|gain,.,.,.,.,gain,.;GC_content_left=0.41;GC_content_right=0.33;Repeat_coord_right=8:57169736-57169990;Repeat_type_right=AluSz6;DDD_HI_percent=78.38,29.1,.,.,78.38,15.18,47.62;ExAC_delZ=0.98432298330431,0.98432298330431,.,.,0.159444434408663,0.393657994766781,0.447428062348521;ExAC_dupZ=0.46663829854876,-0.0464637247715686,.,.,0.46663829854876,-2.53125239294469,0.400234098889925;ExAC_cnvZ=0.586548999968454,0.36681079114905,.,.,0.524682444320288,-2.47162789907313,0.586548999968454;ExAC_synZ=2.2343517715388,-0.0133102053832282,.,.,2.2343517715388,-0.349819812502603,-0.725400991144389;ExAC_misZ=2.48184869967673,2.09183372030708,.,.,2.48184869967673,1.96019845356841,-0.857804306808559;GenCC_disease=.,Diamond-Blackfan_anemia|Lynch_syndrome|familial_colorectal_cancer_type_X|hereditary_nonpolyposis_colon_cancer,.,.,oocyte/zygote/embryo_maturation_arrest_20,silver-russell_syndrome_4,.;GenCC_moi=.,AD,.,.,.,AD,.;GenCC_classification=.,Limited|Supportive,.,.,Limited,Moderate|Strong,.;GenCC_pmid=.,24941021[PMID]|32790018[PMID],.,.,34779126|34997960|35670744,15606491|28796236|32546215,.;NCBI_gene_ID=.,6224,26795,105375847,55034,5324,79145;OMIM_ID=190060|603026,.,.,.,190060,603026,.;OMIM_phenotype=.,.,.,.,Oocyte/zygote/embryo_maturation_arrest_20,_620383_(3)_AR,Adenomas,_salivary_gland_pleomorphic,_somatic,_181030_(3)|Silver-Russell_syndrome_4,_618907_(3)_AD,.;OMIM_inheritance=.,.,.,.,AR,AD,.;OMIM_morbid=yes,.,.,.,yes,yes,.;LOEUF_bin=0,5,.,.,3,0,6;GnomAD_pLI=0.99532,0.020686,.,.,0.58928,0.99532,0.034885;ExAC_pLI=0.82992,0.68632,.,.,0.14931,0.82992,0.38798;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(6_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5;END=57169684;SVLEN=-183554 GT 1/. 8 141035364 . G . PASS AnnotSV_ID=8_141035364_141061798_DEL_1;SV_start=141035364;Biologist_annotation=DI_AR;Biologist_ranking=Pathogenic;Annotation_mode=full,split;CytoBand=q24.3;Gene_name=TRAPPC9;Closest_left=C8orf17;Closest_right=PEG13;Gene_count=1;Tx=.,NM_001160372;Tx_version=.,4;Tx_start=.,140739967;Tx_end=.,141467843;Overlapped_tx_length=.,26435;Overlapped_CDS_length=.,0;Overlapped_CDS_percent=.,0;Frameshift=.,no;Exon_count=.,23;Location=.,intron17-intron17;Location2=.,CDS;Dist_nearest_SS=.,1187;Nearest_SS_type=.,3';Intersect_start=.,141035363;Intersect_end=.,141061798;RE_gene=KCNK9_(morbid/RE=ABC_enhancer+GH_enhancer);po_P_gain_source=dbVar:nssv15169207|dbVar:nssv15128680|dbVar:nssv15161801|nssv15777239|nssv17976962|dbVar:nssv15161417|nssv15161657|dbVar:nssv15161846|dbVar:nssv15169210|dbVar:nssv15161105|dbVar:nssv15161269|dbVar:nssv15161748|dbVar:nssv15161087|dbVar:nssv15161426|dbVar:nssv15161357|dbVar:nssv15777249|dbVar:nssv18326351|dbVar:nssv17970300|dbVar:nssv15161337|dbVar:nssv15161103|dbVar:nssv17977109|dbVar:nssv15161374|dbVar:nssv15161674|dbVar:nssv15161669|dbVar:nssv15161791|dbVar:nssv15161680|dbVar:nssv15161065|dbVar:nssv17976072|dbVar:nssv15161091|dbVar:nssv15161853|dbVar:nssv15161352|dbVar:nssv15161104|dbVar:nssv15161722|dbVar:nssv15161428|dbVar:nssv16208199|dbVar:nssv15162410|dbVar:nssv15773510|dbVar:nssv15774288|dbVar:nssv15161330|dbVar:nssv15161750|dbVar:nssv16206976|dbVar:nssv15161266|dbVar:nssv17970325|dbVar:nssv15131822|dbVar:nssv18841906|dbVar:nssv15161331|dbVar:nssv15143620|dbVar:nssv15161849|dbVar:nssv15775349|dbVar:nssv15161867|dbVar:nssv15775091|dbVar:nssv15161075|dbVar:nssv15161551;po_P_gain_coord=8:10214-146293414|8:13939-146304022|8:158049-146295771|8:158050-146295771|8:158992-146280828|8:164985-146293414|8:176453-146294098|8:191531-146274835|8:191531-146280020|8:191606-146280167|8:12491000-146295771|8:21149034-146295771|8:31936552-146295771|8:68912433-146295771|8:70382991-146295771|8:78392287-146294098|8:79526313-146280020|8:84712254-146295771|8:86778229-146295771|8:86841155-146295771|8:86841229-142689874|8:88943381-146294098|8:93047483-141355635|8:95694383-146294042|8:96496504-146295711|8:98395102-146295771|8:98432251-146222672|8:101879572-146295771|8:104318565-146294098|8:114592632-146280020|8:114853127-146295771|8:121042468-146295771|8:121694650-146295771|8:122193547-146295771|8:125496224-146295771|8:125510740-146294098|8:125526332-146280020|8:128877996-146295771|8:129233159-146274835|8:130863094-146295771|8:131127765-142238309|8:131138344-143473913|8:131651429-146294098|8:131682564-146280020|8:134825278-146280828|8:136059860-146295771|8:136378790-146295771|8:139188798-146295771|8:140016462-146274835|8:140249068-146294098;po_P_gain_percent=0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.03|0.03|0.04|0.04|0.04|0.04|0.04|0.05|0.05|0.05|0.05|0.05|0.06|0.06|0.06|0.06|0.08|0.08|0.10|0.11|0.11|0.13|0.13|0.13|0.15|0.16|0.17|0.24|0.21|0.18|0.18|0.23|0.26|0.27|0.37|0.42|0.44;po_P_loss_phen=Intellectual_developmental_disorder,_AR_13,_613192_(3)_AR;po_P_loss_source=dbVar:nssv16208202|dbVar:nssv15127815|morbid:TRAPPC9;po_P_loss_coord=8:126892815-143750028|8:127638607-144388560|8:140739968-141468678;po_P_loss_percent=0.16|0.16|3.63;B_loss_source=dbVar;B_loss_coord=chr8:140980774-141135131;B_loss_AFmax=0.01;po_B_loss_someG_source=chr8:141040435-141042904_dbVar;po_B_loss_someG_coord=chr8:140980774-141135131_dbVar;GC_content_left=0.535;GC_content_right=0.38;Repeat_coord_left=8:141035378-141035461|8:141035462-141035486;Repeat_type_left=MER58C|(CAAAA)n;HI=.,30;TS=.,0;DDD_HI_percent=53.39;ExAC_delZ=0.107633755409335;ExAC_dupZ=-1.97676981971355;ExAC_cnvZ=-1.34878674017516;ExAC_synZ=-0.190632175596259;ExAC_misZ=1.58912949219012;GenCC_disease=.,autosomal_recessive_non-syndromic_intellectual_disability|intellectual_disability,_autosomal_recessive_13|intellectual_disability-obesity-brain_malformations-facial_dysmorphism_syndrome;GenCC_moi=.,AR;GenCC_classification=.,Definitive|Moderate|Strong|Supportive;GenCC_pmid=.,17120046|2000476|20004763|20004764|20004765|20004765[PMID]_20004763[PMID]_20004765[PMID]|22549410|22549410[PMID];NCBI_gene_ID=.,83696;OMIM_ID=611966;OMIM_phenotype=.,Intellectual_developmental_disorder,_AR_13,_613192_(3)_AR;OMIM_inheritance=.,AR;OMIM_morbid=yes;LOEUF_bin=3;GnomAD_pLI=2.2898e-14;ExAC_pLI=5.7604e-06;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=1,full=1;END=141061798;SVLEN=-26434 GT 1/. 10 46976158 . G . PASS AnnotSV_ID=10_46976158_47590995_DUP_1;SV_start=46976158;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split,split,split;CytoBand=q11.22;Gene_name=GPRIN2|NPY4R|LINC00842|HNRNPA1P33|ANXA8L1|FAM25BP|AGAP14P|SHLD2P3|ANTXRLP1,GPRIN2,NPY4R,LINC00842,HNRNPA1P33,ANXA8L1,FAM25BP,AGAP14P,SHLD2P3,ANTXRLP1;Closest_left=SYT15;Closest_right=LOC105378577;Gene_count=9;Tx=.,NM_001385287,NM_001278794,NR_033957,NR_003277,NM_001098845,NR_104039,NR_165820,NR_027634,NR_103827;Tx_version=.,1,2,2,2,3,1,1,1,1;Tx_start=.,46992020,47083456,47096453,47133334,47157988,47177206,47192907,47379719,47590260;Tx_end=.,47007881,47088320,47151400,47133898,47173994,47181688,47213477,47421238,47640844;Overlapped_tx_length=.,15861,4864,54947,564,16006,4482,20570,41519,735;Overlapped_CDS_length=.,1449,1128,0,0,984,0,0,0,0;Overlapped_CDS_percent=.,100,73,0,0,100,0,0,0,0;Frameshift=.,no,no,no,no,no,no,no,no,no;Exon_count=.,4,2,4,1,12,3,8,7,5;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,intron4-txEnd;Location2=.,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR;Dist_nearest_SS=.,.,.,.,.,.,.,.,.,53;Nearest_SS_type=.,.,.,.,.,.,.,.,.,3';Intersect_start=.,46992020,47083456,47096453,47133334,47157988,47177206,47192907,47379719,47590260;Intersect_end=.,47007881,47088320,47151400,47133898,47173994,47181688,47213477,47421238,47590995;RE_gene=GDF2_(morbid/RE=ABC_enhancer);po_P_gain_source=dbVar:nssv15171419|dbVar:nssv15161644|dbVar:nssv15171420|dbVar:nssv15161671|dbVar:nssv15161670|nssv15161864|dbVar:nssv18830975|dbVar:nssv15148987|dbVar:nssv15146649|dbVar:nssv15148014|dbVar:nssv15147999|dbVar:nssv15127252|dbVar:nssv15149138|dbVar:nssv15160810|dbVar:nssv15153822|dbVar:nssv18329611|dbVar:nssv15157044|dbVar:nssv15774462;po_P_gain_coord=10:73233-135524321|10:93298-135378918|10:98088-135477883|10:100027-50961640|10:100028-135427143|10:11138693-135427143|10:42607636-69160433|10:42890650-52636819|10:43180755-75475666|10:43379743-54025077|10:43957497-55681185|10:46242058-51595050|10:46591858-51028871|10:46966534-51822386|10:46966535-51903756|10:47049548-51903662|10:47148814-51626260;po_P_gain_percent=0.45|0.45|0.45|1.21|0.45|0.49|2.32|6.31|1.90|5.78|5.24|11.49|13.86|12.66|12.45|11.15|9.88;po_P_loss_source=dbVar:nssv18830989|dbVar:nssv18792766|dbVar:nssv15148974|dbVar:nssv15147055|dbVar:nssv15147325|dbVar:nssv15149769|dbVar:nssv15153824|dbVar:nssv15775323|dbVar:nssv18330284|dbVar:nssv18842061|dbVar:nssv18326311|dbVar:nssv15152293|dbVar:nssv15147381|dbVar:nssv15149118|dbVar:nssv15148000|dbVar:nssv15148874|dbVar:nssv15605856|dbVar:nssv17976988|dbVar:nssv16252224|dbVar:nssv15153821|dbVar:nssv15155360|dbVar:nssv15153823|nssv15775280|dbVar:nssv15149894|dbVar:nssv18330270|dbVar:nssv15151095|dbVar:nssv15150620|dbVar:nssv16596271|dbVar:nssv16254627;po_P_loss_coord=10:12829207-135427143|10:46200157-51028871|10:46205691-51330432|10:46205691-51911085|10:46205697-51724915|10:46224447-51594991|10:46225365-51874356|10:46235358-51874163|10:46269494-51874356|10:46284270-51870080|10:46287822-51627470|10:46287822-51861565|10:46476966-51724915|10:46491170-51081560|10:46491170-51594991|10:46491170-51664079|10:46544811-51743471|10:46576516-51680164|10:46964974-51826226|10:46966534-51700837|10:46966534-51874356|10:46966534-51903755|10:46966534-51903756|10:46966535-51700837|10:46966535-51822386|10:46966535-51903756|10:46966536-51874356|10:47132306-51627470;po_P_loss_percent=0.50|12.73|12.00|10.78|11.14|11.45|10.88|10.90|10.97|11.01|11.51|11.03|11.72|13.39|12.05|11.89|11.83|12.05|12.65|12.99|12.53|12.45|12.45|12.99|12.66|12.45|12.53|10.20;B_gain_source=DDD:32922|dgv221e212|dgv24e55|nsv516485,1000g|DDD:32922|DDD:32934|DDD:32936|DDD:32937|dbVar|dgv116e214|dgv221e212|dgv22e55|dgv24e55|nsv516485,DDD:32922|DDD:32934|DDD:32936|DDD:32937|dbVar|dgv221e212|dgv22e55|dgv24e55|nsv516485,DDD:32922|DDD:32936|DDD:32937|dbVar|dgv221e212|dgv24e55|nsv516485,1000g|DDD:32922|DDD:32934|DDD:32936|DDD:32937|dbVar|dgv118e214|dgv221e212|dgv22e55|dgv24e55|nsv516485,DDD:32922|DDD:32936|DDD:32937|dbVar|dgv221e212|dgv24e55|nsv516485,DDD:32922|DDD:32936|DDD:32937|dbVar|dgv221e212|dgv24e55|nsv516485,DDD:32922|DDD:32936|dbVar|dgv221e212|dgv24e55|nsv516485,DDD:32922|dbVar|dgv221e212|dgv24e55|nsv516485,1000g|DDD:32922|DDD:32970|DDD:32972|TS40:ISCA-46639|dbVar|dgv120e214|dgv221e212|dgv24e55|dgv85n27|esv2421526|gnomAD-SV_v2.1_DUP_10_29734|nsv516485;B_gain_coord=10:46109534-48312291|10:46416327-47756284|10:46943378-47742094|10:46966535-48298893,10:46109534-48312291|10:46416327-47756284|10:46923704-47138897|10:46931463-47389066|10:46931470-47201116|10:46943378-47136996|10:46943378-47742094|10:46966535-48298893|chr10:46976292-47023561|10:46976293-47023561|10:46976293-47023561|10:46976293-47023561|10:46976293-47023561,10:46109534-48312291|10:46416327-47756284|10:46923704-47138897|10:46931463-47389066|10:46931470-47201116|10:46943378-47136996|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105,10:46109534-48312291|10:46416327-47756284|10:46931463-47389066|10:46931470-47201116|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105,10:46109534-48312291|10:46416327-47756284|10:46923704-47138897|10:46931463-47389066|10:46931470-47201116|10:46943378-47136996|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105|chr10:47089972-47150813|10:47089973-47150813|10:47089973-47150813|10:47089973-47150813|10:47089973-47150813|chr10:47132970-47134018,10:46109534-48312291|10:46416327-47756284|10:46931463-47389066|10:46931470-47201116|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105,10:46109534-48312291|10:46416327-47756284|10:46931463-47389066|10:46931470-47201116|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105,10:46109534-48312291|10:46416327-47756284|10:46931463-47389066|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105,10:46109534-48312291|10:46416327-47756284|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105,10:46109534-48312291|10:46416327-47756284|10:46943378-47742094|10:46966535-48298893|chr10:47531022-47599037|10:47531023-47599037|10:47531023-47599037|10:47531764-47597768|chr10:47535103-47764425|10:47537369-47652803|10:47539193-47885867|10:47543323-47703613|10:47545737-47759694|chr10:47561240-47680774|chr10:47585775-47727500|10:47585775-47727500;B_gain_AFmax=0.11,0.9544,0.11,0.11,0.9544,0.11,0.11,0.11,0.11,0.11;B_loss_source=DDD:32922|dgv23e55|nsv516485,DDD:32922|DDD:32937|dgv23e55|nsv516485,DDD:32922|DDD:32937|dgv23e55|nsv516485,DDD:32922|DDD:32937|dgv23e55|nsv516485,DDD:32922|DDD:32937|dgv23e55|nsv516485,DDD:32922|DDD:32937|dgv23e55|esv2663732|nsv516485,DDD:32922|DDD:32937|dgv23e55|esv2663732|nsv516485,DDD:32922|dgv23e55|esv2663732|nsv516485,DDD:32922|dgv23e55|nsv516485,1000g|DDD:32922|dbVar|dgv23e55|esv2421526|esv3623125|gnomAD-SV_v2.1_DEL_10_110010|nsv516485;B_loss_coord=10:46109534-48312291|10:46416327-47756284|10:46943378-47742094,10:46109534-48312291|10:46416327-47756284|10:46931470-47201116|10:46943378-47742094,10:46109534-48312291|10:46416327-47756284|10:46931470-47201116|10:46943378-47742094,10:46109534-48312291|10:46416327-47756284|10:46931470-47201116|10:46943378-47742094,10:46109534-48312291|10:46416327-47756284|10:46931470-47201116|10:46943378-47742094,10:46109534-48312291|10:46416327-47756284|10:46931470-47201116|10:46943378-47742094|10:47150446-47326492,10:46109534-48312291|10:46416327-47756284|10:46931470-47201116|10:46943378-47742094|10:47150446-47326492,10:46109534-48312291|10:46416327-47756284|10:46943378-47742094|10:47150446-47326492,10:46109534-48312291|10:46416327-47756284|10:46943378-47742094,10:46109534-48312291|10:46416327-47756284|10:46943378-47742094|chr10:47531022-47599037|10:47531023-47599037|10:47531023-47599037|10:47537369-47652803|chr10:47582000-47654100|10:47582000-47654100|chr10:47585000-47706000;B_loss_AFmax=0.026,0.026,0.026,0.026,0.026,0.04,0.04,0.04,0.026,0.0318;B_inv_source=IMH;B_inv_coord=10:46257220-51811936;B_inv_AFmax=0.0179;po_B_gain_someG_source=10:46416327-47756284_DDD:32922|10:46931463-47389066_DDD:32936|10:46943378-47136996_dgv22e55|10:46966535-48298893_dgv221e212|10:46976293-47023561_1000g|10:46976293-47023561_1000g|chr10:47007970-47086710_dbVar|10:47007971-47086710_1000g|10:47007971-47086710_dgv117e214|chr10:47089972-47150813_dbVar|10:47089973-47150813_1000g|10:47089973-47150813_dgv118e214|chr10:47132970-47134018_dbVar|chr10:47150450-47160300_dbVar|chr10:47208000-47303000_dbVar|chr10:47308000-47315100_dbVar|10:47321000-47396000_gnomAD-SV_v2.1_DUP_10_29724|chr10:47370500-47380000_dbVar|chr10:47371250-47401275_dbVar|10:47383858-47395064_1000g...;po_B_gain_someG_coord=10:46109534-48312291_nsv516485|10:46923704-47138897_DDD:32934|10:46931470-47201116_DDD:32937|10:46943378-47742094_dgv24e55|chr10:46976292-47023561_dbVar|10:46976293-47023561_1000g|10:46976293-47023561_dgv116e214|10:47007971-47086710_1000g|10:47007971-47086710_1000g|chr10:47048634-47429105_dbVar|10:47089973-47150813_1000g|10:47089973-47150813_1000g|chr10:47122885-47123070_dbVar|chr10:47142102-47170473_dbVar|10:47150450-47160300_gnomAD-SV_v2.1_DUP_10_29721|chr10:47216500-47271200_dbVar|chr10:47321000-47396000_dbVar|chr10:47332750-47373000_dbVar|10:47370500-47380000_gnomAD-SV_v2.1_DUP_10_29725|chr10:47383857-47395064_dbVar...;po_B_loss_someG_source=10:46416327-47756284_DDD:32922|10:46943378-47742094_dgv23e55|chr10:47009185-47009299_dbVar|10:47036095-47036306_IMH|chr10:47083158-47083218_dbVar|10:47083161-47083233_gnomAD-SV_v2.1_DEL_10_109994|chr10:47088385-47088703_dbVar|chr10:47120109-47120186_dbVar|chr10:47148773-47150391_dbVar|10:47148774-47150391_esv3623121|10:47172000-47177000_HI40:ISCA-46432|10:47177700-47182800_HI40:ISCA-46433|10:47191200-47201400_HI40:ISCA-46434|10:47211300-47216400_HI40:ISCA-46435|chr10:47241600-47251000_dbVar|10:47252000-47271150_gnomAD-SV_v2.1_DEL_10_110003|10:47275450-47281000_gnomAD-SV_v2.1_DEL_10_110005|10:47301450-47315100_gnomAD-SV_v2.1_DEL_10_110006|chr10:47531022-47599037_dbVar|10:47531023-47599037_esv3623125...;po_B_loss_someG_coord=10:46109534-48312291_nsv516485|10:46931470-47201116_DDD:32937|chr10:47003380-47003486_dbVar|10:47009185-47009299_gnomAD-SV_v2.1_DEL_10_109993|10:47036095-47036306_esv2665191|chr10:47083161-47083233_dbVar|chr10:47088375-47088703_dbVar|10:47088385-47088703_gnomAD-SV_v2.1_DEL_10_109995|chr10:47141536-47141802_dbVar|10:47148774-47150391_1000g|10:47150446-47326492_esv2663732|chr10:47172000-47177000_dbVar|chr10:47177700-47182800_dbVar|chr10:47191200-47201400_dbVar|chr10:47211300-47216400_dbVar|chr10:47252000-47271150_dbVar|chr10:47275450-47281000_dbVar|chr10:47301450-47315100_dbVar|chr10:47383857-47395064_dbVar|10:47531023-47599037_1000g...;Cosmic_ID=1006588|1013972|1014290|1014377|166480|629812|2127723|1120842|1548870|2486704|893290|2101919|2312178|1979007|2772902|665181|2077786|1955414|1970979|1407950|3025640|689917|620606|620951|963298|867976|855138|630315|815728|632314|633012|1907|922644|922770|787189|694337|647741|657969|649813|1019156|678322|1019393|1021179|1021180|671781|661728|1066321|1066604|1135949|1796413|670461|...;Cosmic_mut_typ=loss|gain;GC_content_left=0.415;GC_content_right=0.5;Repeat_coord_left=10:46976181-46976437;Repeat_type_left=LTR78;SegDup_right=10:47590101-47594293|10:47590101-47594293;DDD_HI_percent=89.5,82.54,66.73,.,.,75.66,89.5,.,.,.;ExAC_synZ=-2.98697085794417,-3.10473776124822,-2.98697085794417,.,.,.,.,.,.,.;ExAC_misZ=-2.90416172871297,-3.32991530871711,-2.90416172871297,.,.,.,.,.,.,.;NCBI_gene_ID=.,9721,5540,643650,728643,728113,100132929,653259,439965,100996567;LOEUF_bin=8,8,8,.,.,9,.,.,.,.;GnomAD_pLI=0.33439,3.8557e-06,8.2144e-07,.,.,0.33439,.,.,.,.;ExAC_pLI=0.00029629,0.00029629,6.116e-09,.,.,.,.,.,.,.;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2E_(cf_B_gain_source,_+0.00)|2L_(ANTXRLP1,_+0.00)|3A_(9_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1;END=47590995;SVLEN=614837 GT 1/. -11 66287089 . C . PASS AnnotSV_ID=11_66287089_66288847_DEL_1;SV_start=66287089;Biologist_annotation=BBS1_internal_frameshift;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split;CytoBand=q13.2;Gene_name=BBS1|ZDHHC24,BBS1,ZDHHC24;Closest_left=DPP3;Closest_right=ACTN3;Gene_count=2;Tx=.,NM_024649,NM_001348571;Tx_version=.,5,2;Tx_start=.,66278105,66288095;Tx_end=.,66301069,66313519;Overlapped_tx_length=.,1759,752;Overlapped_CDS_length=.,238,0;Overlapped_CDS_percent=.,13,0;Frameshift=.,yes,no;Exon_count=.,17,5;Location=.,exon8-intron9,exon5-txEnd;Location2=.,CDS,3'UTR;Dist_nearest_SS=.,0,90;Nearest_SS_type=.,5',3';Intersect_start=.,66287088,66288095;Intersect_end=.,66288847,66288847;RE_gene=BANF1_(morbid/RE=EA_enhancer)|C11orf80_(morbid/RE=EA_enhancer)|CATSPER1_(morbid/RE=EA_enhancer)|CTSF_(morbid/RE=EA_enhancer)|FIBP_(morbid/RE=EA_enhancer)|KLC2_(morbid/RE=EA_enhancer)|PACS1_(morbid/RE=EA_enhancer)|PC_(morbid/RE=EA_enhancer)|SART1_(morbid/RE=EA_enhancer)|SF3B2_(morbid/RE=EA_enhancer)|SPTBN2_(morbid/RE=EA_enhancer)|TMEM151A_(morbid/RE=EA_enhancer);po_P_gain_source=dbVar:nssv15171978|dbVar:nssv15158476|dbVar:nssv15150306|nssv15150623|dbVar:nssv17976763|dbVar:nssv15150659|dbVar:nssv15605814|dbVar:nssv15146474|dbVar:nssv17973682;po_P_gain_coord=11:70865-134938470|11:198511-134934063|11:230617-134938470|11:32799482-134938470|11:64501920-67129258|11:65138977-67574402|11:65960974-67658241|11:66281868-66288857;po_P_gain_percent=0.00|0.00|0.00|0.00|0.07|0.07|0.10|25.16;po_P_loss_phen=Bardet-Biedl_syndrome_1,_209900_(3)_Digenic_recessive,AR;po_P_loss_source=dbVar:nssv16867095|dbVar:nssv15148225|dbVar:nssv15129970|dbVar:nssv18792809|morbid:BBS1|dbVar:nssv16214536|dbVar:nssv17171795|dbVar:nssv16212285|dbVar:nssv17976607|dbVar:nssv17974991|dbVar:nssv17172605|dbVar:nssv16212781|dbVar:nssv18787680|dbVar:nssv15128612|dbVar:nssv17172606;po_P_loss_coord=11:11835570-118373112|11:65508903-67473140|11:66274841-66292574|11:66274871-66292647|11:66278106-66301069|11:66278112-66291373|11:66278112-66299528|11:66278122-66291682|11:66278712-66293593|11:66283002-66287229|11:66283155-66287229|11:66287079-66288857|11:66287079-66291105|11:66288384-66293649|11:66288722-66293683;po_P_loss_percent=0.00|0.09|9.92|9.89|7.66|13.26|8.21|12.97|11.82|3.33|3.46|98.88|43.68|8.81|2.54;P_snvindel_nb=11,11,4;P_snvindel_phen=BBS1-related_condition|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|Retinal_dystrophy;B_inv_source=IMH;B_inv_coord=11:1642920-71249653|11:49233128-89368291|11:49425032-89029881|11:49425381-89029675|11:49580506-88798755|11:49652145-88728247|11:50025478-108975588;B_inv_AFmax=0.432;po_B_gain_someG_coord=chr11:66272212-66288041_dbVar;GC_content_left=0.565;GC_content_right=0.545;DDD_HI_percent=67.28,40.7,67.28;ExAC_delZ=-0.648300458519823,-0.648300458519823,-1.23986898178133;ExAC_dupZ=0.663432885116562,0.663432885116562,0.616417349113344;ExAC_cnvZ=0.155145712015149,0.155145712015149,-0.188374414893838;ExAC_synZ=0.635599914039232,0.0819191978639822,0.635599914039232;ExAC_misZ=1.04727080312339,0.0377121632347663,1.04727080312339;GenCC_disease=.,Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1,.;GenCC_moi=.,AR,.;GenCC_classification=.,Definitive|Strong|Supportive,.;GenCC_pmid=.,10577921|10577922|12118255|12524598|12837689|18032602|20177705|20301537[PMID]|20498079|23143442,.;NCBI_gene_ID=.,582,254359;OMIM_ID=209901,209901,.;OMIM_phenotype=.,Bardet-Biedl_syndrome_1,_209900_(3)_Digenic_recessive,AR,.;OMIM_inheritance=.,Digenic_recessive,AR,.;OMIM_morbid=yes,yes,.;LOEUF_bin=5,5,7;GnomAD_pLI=0.0004208,3.4063e-12,0.0004208;ExAC_pLI=0.0061403,1.7787e-07,0.0061403;AnnotSV_ranking_score=0.9;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2E-1_(BBS1,_+0.90)|3A_(2_genes,_+0.00)|5F_(+0.00);ACMG_class=4,full=4,full=4;END=66288847;SVLEN=-1758 GT 1/. +11 66287089 . C . PASS AnnotSV_ID=11_66287089_66288847_DEL_1;SV_start=66287089;Biologist_annotation=BBS1_internal_frameshift;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split;CytoBand=q13.2;Gene_name=BBS1|ZDHHC24,BBS1,ZDHHC24;Closest_left=DPP3;Closest_right=ACTN3;Gene_count=2;Tx=.,NM_024649,NM_001348571;Tx_version=.,5,2;Tx_start=.,66278105,66288095;Tx_end=.,66301069,66313519;Overlapped_tx_length=.,1759,752;Overlapped_CDS_length=.,238,0;Overlapped_CDS_percent=.,13,0;Frameshift=.,yes,no;Exon_count=.,17,5;Location=.,exon8-intron9,exon5-txEnd;Location2=.,CDS,3'UTR;Dist_nearest_SS=.,0,90;Nearest_SS_type=.,5',3';Intersect_start=.,66287088,66288095;Intersect_end=.,66288847,66288847;RE_gene=BANF1_(morbid/RE=EA_enhancer)|C11orf80_(morbid/RE=EA_enhancer)|CATSPER1_(morbid/RE=EA_enhancer)|CTSF_(morbid/RE=EA_enhancer)|FIBP_(morbid/RE=EA_enhancer)|KLC2_(morbid/RE=EA_enhancer)|PACS1_(morbid/RE=EA_enhancer)|PC_(morbid/RE=EA_enhancer)|SF3B2_(morbid/RE=EA_enhancer)|SPTBN2_(morbid/RE=EA_enhancer)|TMEM151A_(morbid/RE=EA_enhancer);po_P_gain_source=dbVar:nssv15171978|dbVar:nssv15158476|dbVar:nssv15150306|nssv15150623|dbVar:nssv17976763|dbVar:nssv15150659|dbVar:nssv15605814|dbVar:nssv15146474|dbVar:nssv17973682;po_P_gain_coord=11:70865-134938470|11:198511-134934063|11:230617-134938470|11:32799482-134938470|11:64501920-67129258|11:65138977-67574402|11:65960974-67658241|11:66281868-66288857;po_P_gain_percent=0.00|0.00|0.00|0.00|0.07|0.07|0.10|25.16;po_P_loss_phen=Bardet-Biedl_syndrome_1,_209900_(3)_Digenic_recessive,AR;po_P_loss_source=dbVar:nssv16867095|dbVar:nssv15148225|dbVar:nssv15129970|dbVar:nssv18792809|morbid:BBS1|dbVar:nssv16214536|dbVar:nssv17171795|dbVar:nssv16212285|dbVar:nssv17976607|dbVar:nssv17974991|dbVar:nssv17172605|dbVar:nssv16212781|dbVar:nssv18787680|dbVar:nssv15128612|dbVar:nssv17172606;po_P_loss_coord=11:11835570-118373112|11:65508903-67473140|11:66274841-66292574|11:66274871-66292647|11:66278106-66301069|11:66278112-66291373|11:66278112-66299528|11:66278122-66291682|11:66278712-66293593|11:66283002-66287229|11:66283155-66287229|11:66287079-66288857|11:66287079-66291105|11:66288384-66293649|11:66288722-66293683;po_P_loss_percent=0.00|0.09|9.92|9.89|7.66|13.26|8.21|12.97|11.82|3.33|3.46|98.88|43.68|8.81|2.54;P_snvindel_nb=11,11,4;P_snvindel_phen=BBS1-related_condition|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|Retinal_dystrophy;B_inv_source=IMH;B_inv_coord=11:1642920-71249653|11:49233128-89368291|11:49425032-89029881|11:49425381-89029675|11:49580506-88798755|11:49652145-88728247|11:50025478-108975588;B_inv_AFmax=0.432;po_B_gain_someG_coord=chr11:66272212-66288041_dbVar;GC_content_left=0.565;GC_content_right=0.545;DDD_HI_percent=67.28,40.7,67.28;ExAC_delZ=-0.648300458519823,-0.648300458519823,-1.23986898178133;ExAC_dupZ=0.663432885116562,0.663432885116562,0.616417349113344;ExAC_cnvZ=0.155145712015149,0.155145712015149,-0.188374414893838;ExAC_synZ=0.635599914039232,0.0819191978639822,0.635599914039232;ExAC_misZ=1.04727080312339,0.0377121632347663,1.04727080312339;GenCC_disease=.,Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|ciliopathy,.;GenCC_moi=.,AR,.;GenCC_classification=.,Definitive|Strong|Supportive,.;GenCC_pmid=.,10577921|10577922|12118255|12524598|12837689|18032602|20177705|20301537[PMID]|20498079|23143442,.;NCBI_gene_ID=.,582,254359;OMIM_ID=209901,209901,.;OMIM_phenotype=.,Bardet-Biedl_syndrome_1,_209900_(3)_Digenic_recessive,AR,.;OMIM_inheritance=.,Digenic_recessive,AR,.;OMIM_morbid=yes,yes,.;LOEUF_bin=5,5,7;GnomAD_pLI=0.0004208,3.4063e-12,0.0004208;ExAC_pLI=0.0061403,1.7787e-07,0.0061403;AnnotSV_ranking_score=0.9;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2E-1_(BBS1,_+0.90)|3A_(2_genes,_+0.00)|5F_(+0.00);ACMG_class=4,full=4,full=4;END=66288847;SVLEN=-1758 GT 1/. 12 63935482 . C . PASS AnnotSV_ID=12_63935482_64130626_DEL_1;SV_start=63935482;Biologist_annotation=DPY19L2_(both_DEL_and_DUP_LCR_mediated,_precise_breakpoints);Biologist_ranking=Pathogenic;Annotation_mode=full,split;CytoBand=q14.2;Gene_name=DPY19L2;Closest_left=AVPR1A;Closest_right=RXYLT1;Gene_count=1;Tx=.,NM_173812;Tx_version=.,5;Tx_start=.,63952692;Tx_end=.,64062273;Overlapped_tx_length=.,109581;Overlapped_CDS_length=.,2277;Overlapped_CDS_percent=.,100;Frameshift=.,no;Exon_count=.,22;Location=.,txStart-txEnd;Location2=.,5'UTR-3'UTR;Intersect_start=.,63952692;Intersect_end=.,64062273;RE_gene=RXYLT1_(morbid/RE=GH_enhancer)|TBK1_(morbid/RE=EA_enhancer);P_loss_phen=Spermatogenic_failure_9,_613958_(3)_AR;P_loss_source=dbVar:nssv15119764|dbVar:nssv16213932|morbid:DPY19L2,dbVar:nssv16213932|morbid:DPY19L2;P_loss_coord=12:63952693-64062273|12:63952694-64062354|12:63989747-63989817,12:63952693-64062273|12:63989747-63989817;po_P_gain_source=dbVar:nssv15161620|dbVar:nssv15161414|nssv15161422|dbVar:nssv15171852|dbVar:nssv15161798|dbVar:nssv15171855;po_P_gain_coord=12:2-133851895|12:173788-133777902|12:191620-133777645|12:282466-133773393|12:621221-133779118;po_P_gain_percent=0.15|0.15|0.15|0.15|0.15;po_P_loss_source=dbVar:nssv15136921;po_P_loss_coord=12:61300933-66961857;po_P_loss_percent=3.45;P_snvindel_nb=1;P_snvindel_phen=Spermatogenic_failure_9;B_gain_source=.,1000g|DDD:38888|dbVar|esv3629757|gnomAD-SV_v2.1_DUP_12_34997;B_gain_coord=.,chr12:63936386-64131550|12:63936386-64131550|chr12:63939158-64117235|12:63939159-64117235|12:63939159-64117235|12:63940549-64135811|chr12:63950451-64144961;B_gain_AFmax=.,0.0257;B_loss_source=.,dbVar;B_loss_coord=.,chr12:63923277-64119251|chr12:63939158-64117235|chr12:63946269-64141505;B_loss_AFmax=.,0.01;B_inv_source=IMH;B_inv_coord=12:11501488-96031049|12:40933234-113477160;B_inv_AFmax=0.107;po_B_gain_someG_source=chr12:63936386-64131550_dbVar|chr12:63939158-64117235_dbVar|12:63939159-64117235_esv3629757|chr12:63944788-63947354_dbVar|chr12:63965589-63975135_dbVar|chr12:63988950-64000500_dbVar|chr12:64010193-64011854_dbVar|chr12:64011854-64015265_dbVar|12:64020291-64020367_DDD:38896|12:64069043-64136500_dgv280e214|chr12:64077066-64077827_dbVar|chr12:64078873-64107227_dbVar|chr12:64117634-64120295_dbVar|chr12:64129133-64134963_dbVar|chr12:63936386-64131550_dbVar|chr12:63939158-64117235_dbVar|12:63939159-64117235_esv3629757|chr12:63944788-63947354_dbVar|chr12:63965589-63975135_dbVar|chr12:63988950-64000500_dbVar...;po_B_gain_someG_coord=chr12:63935000-63948000_dbVar|12:63936386-64131550_gnomAD-SV_v2.1_DUP_12_34997|12:63939159-64117235_1000g|12:63940549-64135811_DDD:38888|chr12:63950451-64144961_dbVar|chr12:63965589-64010193_dbVar|chr12:63998600-64077000_dbVar|chr12:64010193-64015265_dbVar|chr12:64011854-64021530_dbVar|chr12:64061735-64073704_dbVar|chr12:64073704-64076066_dbVar|chr12:64078873-64079823_dbVar|chr12:64089900-64096000_dbVar|chr12:64125000-64130000_dbVar|chr12:63935000-63948000_dbVar|12:63936386-64131550_gnomAD-SV_v2.1_DUP_12_34997|12:63939159-64117235_1000g|12:63940549-64135811_DDD:38888|chr12:63950451-64144961_dbVar|chr12:63965589-64010193_dbVar...;po_B_loss_someG_source=chr12:63936000-63986000_dbVar|chr12:63946269-64141505_dbVar|chr12:63946732-63946956_dbVar|12:63946733-63946956_IMH|chr12:63959839-63959910_dbVar|12:64020291-64020367_DDD:38896|chr12:64069257-64069348_dbVar|chr12:64076528-64076585_dbVar|chr12:64116494-64116881_dbVar|chr12:63923277-64119251_dbVar|chr12:63939158-64117235_dbVar|12:63946730-63946956_esv2662353|12:63946732-63946956_gnomAD-SV_v2.1_DEL_12_129265|chr12:63950172-63950241_dbVar|chr12:64015848-64018740_dbVar|chr12:64065000-64130000_dbVar|chr12:64069869-64069961_dbVar|chr12:64103835-64106468_dbVar|chr12:64122000-64127000_dbVar;po_B_loss_someG_coord=chr12:63923277-64119251_dbVar|chr12:63939158-64117235_dbVar|12:63946730-63946956_esv2662353|12:63946732-63946956_gnomAD-SV_v2.1_DEL_12_129265|chr12:63950172-63950241_dbVar|chr12:64015848-64018740_dbVar|chr12:64065000-64130000_dbVar|chr12:64069869-64069961_dbVar|chr12:64103835-64106468_dbVar|chr12:64122000-64127000_dbVar|chr12:63936000-63986000_dbVar|chr12:63946269-64141505_dbVar|chr12:63946732-63946956_dbVar|12:63946733-63946956_IMH|chr12:63959839-63959910_dbVar|12:64020291-64020367_DDD:38896|chr12:64069257-64069348_dbVar|chr12:64076528-64076585_dbVar|chr12:64116494-64116881_dbVar;Cosmic_ID=350981|2692928|1491350|1087307|2792491|2353750|2965163|1209828|1619448|1883558|2814116|1194770|2089432|31158|2419380|119292|287527|981327|1267803|1760195|174035|1054499|1054500|693309|1328263|1881832|2850280,1267803|1760195|1054499|1054500;Cosmic_mut_typ=loss|gain;GC_content_left=0.53;GC_content_right=0.43;Repeat_coord_left=12:63935369-63935656;Repeat_type_left=AluSq2;Repeat_coord_right=12:64130409-64130696;Repeat_type_right=AluSq2;SegDup_left=12:63923419-63951619;SegDup_right=12:64119249-64146247;DDD_HI_percent=81.13;ExAC_synZ=1.02618176351368;ExAC_misZ=1.66555804568279;GenCC_disease=.,male_infertility_due_to_globozoospermia|spermatogenic_failure_9;GenCC_moi=.,AR;GenCC_classification=.,Strong|Supportive;GenCC_pmid=.,17008355|21397063|21397063[PMID]_22571172[PMID]|21397064|22627659|22653751|25755131|25780569;NCBI_gene_ID=.,283417;OMIM_ID=613893;OMIM_phenotype=.,Spermatogenic_failure_9,_613958_(3)_AR;OMIM_inheritance=.,AR;OMIM_morbid=yes;LOEUF_bin=4;GnomAD_pLI=1.0936e-13;ExAC_pLI=7.0294e-05;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=5,full=5;END=64130626;SVLEN=-195144 GT 1/. 12 63935482 . C . PASS AnnotSV_ID=12_63935482_64130626_DUP_1;SV_start=63935482;Biologist_annotation=DPY19L2_(both_DEL_and_DUP_LCR_mediated,_precise_breakpoints);Biologist_ranking=Pathogenic;Annotation_mode=full,split;CytoBand=q14.2;Gene_name=DPY19L2;Closest_left=AVPR1A;Closest_right=RXYLT1;Gene_count=1;Tx=.,NM_173812;Tx_version=.,5;Tx_start=.,63952692;Tx_end=.,64062273;Overlapped_tx_length=.,109581;Overlapped_CDS_length=.,2277;Overlapped_CDS_percent=.,100;Frameshift=.,no;Exon_count=.,22;Location=.,txStart-txEnd;Location2=.,5'UTR-3'UTR;Intersect_start=.,63952692;Intersect_end=.,64062273;RE_gene=RXYLT1_(morbid/RE=GH_enhancer)|TBK1_(morbid/RE=EA_enhancer);P_loss_phen=Spermatogenic_failure_9,_613958_(3)_AR;P_loss_source=dbVar:nssv15119764|dbVar:nssv16213932|morbid:DPY19L2,dbVar:nssv16213932|morbid:DPY19L2;P_loss_coord=12:63952693-64062273|12:63952694-64062354|12:63989747-63989817,12:63952693-64062273|12:63989747-63989817;po_P_gain_source=dbVar:nssv15161620|dbVar:nssv15161414|nssv15161422|dbVar:nssv15171852|dbVar:nssv15161798|dbVar:nssv15171855;po_P_gain_coord=12:2-133851895|12:173788-133777902|12:191620-133777645|12:282466-133773393|12:621221-133779118;po_P_gain_percent=0.15|0.15|0.15|0.15|0.15;po_P_loss_source=dbVar:nssv15136921;po_P_loss_coord=12:61300933-66961857;po_P_loss_percent=3.45;P_snvindel_nb=1;P_snvindel_phen=Spermatogenic_failure_9;B_gain_source=.,1000g|DDD:38888|dbVar|esv3629757|gnomAD-SV_v2.1_DUP_12_34997;B_gain_coord=.,chr12:63936386-64131550|12:63936386-64131550|chr12:63939158-64117235|12:63939159-64117235|12:63939159-64117235|12:63940549-64135811|chr12:63950451-64144961;B_gain_AFmax=.,0.0257;B_loss_source=.,dbVar;B_loss_coord=.,chr12:63923277-64119251|chr12:63939158-64117235|chr12:63946269-64141505;B_loss_AFmax=.,0.01;B_inv_source=IMH;B_inv_coord=12:11501488-96031049|12:40933234-113477160;B_inv_AFmax=0.107;po_B_gain_someG_source=chr12:63936386-64131550_dbVar|chr12:63939158-64117235_dbVar|12:63939159-64117235_esv3629757|chr12:63944788-63947354_dbVar|chr12:63965589-63975135_dbVar|chr12:63988950-64000500_dbVar|chr12:64010193-64011854_dbVar|chr12:64011854-64015265_dbVar|12:64020291-64020367_DDD:38896|12:64069043-64136500_dgv280e214|chr12:64077066-64077827_dbVar|chr12:64078873-64107227_dbVar|chr12:64117634-64120295_dbVar|chr12:64129133-64134963_dbVar|chr12:63936386-64131550_dbVar|chr12:63939158-64117235_dbVar|12:63939159-64117235_esv3629757|chr12:63944788-63947354_dbVar|chr12:63965589-63975135_dbVar|chr12:63988950-64000500_dbVar...;po_B_gain_someG_coord=chr12:63935000-63948000_dbVar|12:63936386-64131550_gnomAD-SV_v2.1_DUP_12_34997|12:63939159-64117235_1000g|12:63940549-64135811_DDD:38888|chr12:63950451-64144961_dbVar|chr12:63965589-64010193_dbVar|chr12:63998600-64077000_dbVar|chr12:64010193-64015265_dbVar|chr12:64011854-64021530_dbVar|chr12:64061735-64073704_dbVar|chr12:64073704-64076066_dbVar|chr12:64078873-64079823_dbVar|chr12:64089900-64096000_dbVar|chr12:64125000-64130000_dbVar|chr12:63935000-63948000_dbVar|12:63936386-64131550_gnomAD-SV_v2.1_DUP_12_34997|12:63939159-64117235_1000g|12:63940549-64135811_DDD:38888|chr12:63950451-64144961_dbVar|chr12:63965589-64010193_dbVar...;po_B_loss_someG_source=chr12:63936000-63986000_dbVar|chr12:63946269-64141505_dbVar|chr12:63946732-63946956_dbVar|12:63946733-63946956_IMH|chr12:63959839-63959910_dbVar|12:64020291-64020367_DDD:38896|chr12:64069257-64069348_dbVar|chr12:64076528-64076585_dbVar|chr12:64116494-64116881_dbVar|chr12:63923277-64119251_dbVar|chr12:63939158-64117235_dbVar|12:63946730-63946956_esv2662353|12:63946732-63946956_gnomAD-SV_v2.1_DEL_12_129265|chr12:63950172-63950241_dbVar|chr12:64015848-64018740_dbVar|chr12:64065000-64130000_dbVar|chr12:64069869-64069961_dbVar|chr12:64103835-64106468_dbVar|chr12:64122000-64127000_dbVar;po_B_loss_someG_coord=chr12:63923277-64119251_dbVar|chr12:63939158-64117235_dbVar|12:63946730-63946956_esv2662353|12:63946732-63946956_gnomAD-SV_v2.1_DEL_12_129265|chr12:63950172-63950241_dbVar|chr12:64015848-64018740_dbVar|chr12:64065000-64130000_dbVar|chr12:64069869-64069961_dbVar|chr12:64103835-64106468_dbVar|chr12:64122000-64127000_dbVar|chr12:63936000-63986000_dbVar|chr12:63946269-64141505_dbVar|chr12:63946732-63946956_dbVar|12:63946733-63946956_IMH|chr12:63959839-63959910_dbVar|12:64020291-64020367_DDD:38896|chr12:64069257-64069348_dbVar|chr12:64076528-64076585_dbVar|chr12:64116494-64116881_dbVar;Cosmic_ID=350981|2692928|1491350|1087307|2792491|2353750|2965163|1209828|1619448|1883558|2814116|1194770|2089432|31158|2419380|119292|287527|981327|1267803|1760195|174035|1054499|1054500|693309|1328263|1881832|2850280,1267803|1760195|1054499|1054500;Cosmic_mut_typ=loss|gain;GC_content_left=0.53;GC_content_right=0.43;Repeat_coord_left=12:63935369-63935656;Repeat_type_left=AluSq2;Repeat_coord_right=12:64130409-64130696;Repeat_type_right=AluSq2;SegDup_left=12:63923419-63951619;SegDup_right=12:64119249-64146247;DDD_HI_percent=81.13;ExAC_synZ=1.02618176351368;ExAC_misZ=1.66555804568279;GenCC_disease=.,male_infertility_due_to_globozoospermia|spermatogenic_failure_9;GenCC_moi=.,AR;GenCC_classification=.,Strong|Supportive;GenCC_pmid=.,17008355|21397063|21397063[PMID]_22571172[PMID]|21397064|22627659|22653751|25755131|25780569;NCBI_gene_ID=.,283417;OMIM_ID=613893;OMIM_phenotype=.,Spermatogenic_failure_9,_613958_(3)_AR;OMIM_inheritance=.,AR;OMIM_morbid=yes;LOEUF_bin=4;GnomAD_pLI=1.0936e-13;ExAC_pLI=7.0294e-05;AnnotSV_ranking_score=0;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2G_(cf_po_B_gain_someG_source,_+0.00)|2H-2_(DPY19L2,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=3,full=3;END=64130626;SVLEN=195144 GT 1/. 14 22323880 . T . PASS AnnotSV_ID=14_22323880_22952279_DEL_1;SV_start=22323880;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=q11.2;Gene_name=TRD-AS1;Closest_left=OR4E1;Closest_right=LINC02332;Gene_count=1;Tx=.,NR_148361;Tx_version=.,1;Tx_start=.,22847807;Tx_end=.,22951948;Overlapped_tx_length=.,104141;Overlapped_CDS_length=.,0;Overlapped_CDS_percent=.,0;Frameshift=.,no;Exon_count=.,5;Location=.,txStart-txEnd;Location2=.,UTR;Intersect_start=.,22847807;Intersect_end=.,22951948;RE_gene=CEBPE_(morbid/RE=GH_promoter_enhancer)|CHD8_(HI=3/morbid/RE=GH_enhancer+GH_promoter_enhancer)|PABPN1_(morbid/RE=GH_enhancer)|SLC7A7_(morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer+GH_promoter_enhancer)|SUPT16H_(morbid/RE=GH_enhancer+GH_promoter_enhancer);po_P_gain_source=dbVar:nssv15162475|dbVar:nssv15606090|dbVar:nssv15161908|dbVar:nssv15162476|dbVar:nssv15161629|dbVar:nssv15139565|dbVar:nssv15141262|dbVar:nssv15146564|dbVar:nssv15146758|dbVar:nssv16207193|dbVar:nssv17976958|dbVar:nssv15148269|dbVar:nssv15161107|nssv15161424|dbVar:nssv15161067|dbVar:nssv15132618|dbVar:nssv15134537|dbVar:nssv17955846|dbVar:nssv16091748;po_P_gain_coord=14:19000423-107289053|14:19100683-28730087|14:19280734-107287663|14:19327824-107287663|14:19794562-107234280|14:19794562-27768254|14:19794562-34049214|14:20468771-39453619|14:20490853-44562875|14:20511673-44829030|14:20511673-47481203|14:20511673-49111245|14:20511674-107285437|14:20619309-107263478|14:20619309-23911404|14:20880747-25487326|14:20925966-23649548|14:21717094-24027220;po_P_gain_percent=0.71|6.53|0.71|0.71|0.72|7.88|4.41|3.31|2.61|2.58|2.33|2.20|0.72|0.73|19.09|13.64|23.07|27.20;po_P_loss_source=dbVar:nssv15119819|dbVar:nssv15145699|dbVar:nssv18330314|dbVar:nssv16208379|dbVar:nssv17976070;po_P_loss_coord=14:20223409-23210490|14:20665105-45754005|14:20690197-23114522|14:21143934-23297667|14:21162264-50713602;po_P_loss_percent=21.04|2.50|25.92|29.18|2.13;B_gain_source=TS40:ISCA-37476,TS40:ISCA-37476|dgv594e212|dgv598e212;B_gain_coord=14:22111110-23021097,14:22111110-23021097|14:22420175-22995788|14:22558879-22977816;B_gain_AFmax=.,0.02;B_loss_source=HI40:ISCA-37476,DDD:42190|HI40:ISCA-37476|dgv599e212;B_loss_coord=14:22111110-23021097,14:22111110-23021097|14:22549070-22959340|14:22558879-22995788;B_loss_AFmax=.,0.0107;po_B_gain_someG_source=14:22111110-23021097_TS40:ISCA-37476|14:22420175-22995788_dgv594e212|14:22558879-22977816_dgv598e212|chr14:22712776-22714043_dbVar|14:22824113-22824253_IMH|chr14:22883062-22883533_dbVar|chr14:22902951-22903446_dbVar|chr14:22948087-22949258_dbVar|chr14:22950998-23140000_dbVar;po_B_gain_someG_coord=chr14:22095569-22713973_dbVar|chr14:22273689-22404030_dbVar|chr14:22535580-22536565_dbVar|chr14:22576716-22576815_dbVar|chr14:22780292-22782161_dbVar|chr14:22881495-22883533_dbVar|chr14:22898270-22898720_dbVar|chr14:22917975-22918975_dbVar|chr14:22948458-22949258_dbVar;po_B_loss_someG_source=chr14:22203999-22380000_dbVar|chr14:22377253-22379001_dbVar|chr14:22386251-22387140_dbVar|chr14:22401118-22401214_dbVar|chr14:22451362-22451480_dbVar|14:22506096-22519924_dgv596e212|chr14:22522033-22522131_dbVar|chr14:22557093-22558668_dbVar|chr14:22566919-22569163_dbVar|chr14:22578988-22580660_dbVar|chr14:22582707-22583756_dbVar|14:22582708-22583756_DDD:42194|14:22582708-22583756_esv2663069|chr14:22592792-22593350_dbVar|chr14:22621082-22623586_dbVar|chr14:22650745-22651552_dbVar|chr14:22690248-22693574_dbVar|14:22740309-22923239_esv3633740|chr14:22753195-22755692_dbVar|chr14:22763326-22765409_dbVar...;po_B_loss_someG_coord=14:22111110-23021097_HI40:ISCA-37476|chr14:22375089-22375885_dbVar|chr14:22381501-22381559_dbVar|chr14:22392130-22392542_dbVar|chr14:22414330-22458520_dbVar|chr14:22501037-22503623_dbVar|chr14:22520154-22520348_dbVar|14:22549070-22959340_DDD:42190|14:22558879-22995788_dgv599e212|chr14:22570896-22575554_dbVar|chr14:22582165-22583029_dbVar|14:22582707-22583756_gnomAD-SV_v2.1_DEL_14_140471|14:22582708-22583756_IMH|14:22582714-22583762_esv3633739|chr14:22602805-22607184_dbVar|chr14:22629626-22629708_dbVar|chr14:22667031-22667110_dbVar|chr14:22731881-22732433_dbVar|chr14:22740393-22749648_dbVar|chr14:22760947-22761344_dbVar...;GC_content_left=0.25;GC_content_right=0.39;NCBI_gene_ID=.,105370401;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=1,full=1;END=22952279;SVLEN=-628399 GT 1/. 14 74001652 . C . PASS AnnotSV_ID=14_74001652_74022324_DEL_1;SV_start=74001652;Biologist_ranking=Benign;Annotation_mode=full,split,split;CytoBand=q24.3;Gene_name=HEATR4|ACOT1,HEATR4,ACOT1;Closest_left=RIOX1;Closest_right=ACOT2;Gene_count=2;Tx=.,NM_001220484,NM_001037161;Tx_version=.,1,2;Tx_start=.,73945188,74003846;Tx_end=.,74025651,74010500;Overlapped_tx_length=.,20673,6654;Overlapped_CDS_length=.,0,1266;Overlapped_CDS_percent=.,0,100;Frameshift=.,no,no;Exon_count=.,18,3;Location=.,intron1-intron1,txStart-txEnd;Location2=.,5'UTR,5'UTR-3'UTR;Dist_nearest_SS=.,3130,.;Nearest_SS_type=.,5',.;Intersect_start=.,74001651,74003846;Intersect_end=.,74022324,74010500;RE_gene=COQ6_(morbid/RE=EA_enhancer)|ISCA2_(morbid/RE=GH_enhancer)|PSEN1_(morbid/RE=EA_enhancer);po_P_gain_source=dbVar:nssv15162475|dbVar:nssv15161908|dbVar:nssv15162476|dbVar:nssv15161629|dbVar:nssv15161107|nssv15161424|dbVar:nssv15161067|dbVar:nssv17976728|dbVar:nssv17517489|dbVar:nssv15161689;po_P_gain_coord=14:19000423-107289053|14:19280734-107287663|14:19327824-107287663|14:19794562-107234280|14:20511674-107285437|14:20619309-107263478|14:37671059-106985955|14:54654002-75828024|14:73750742-107285437;po_P_gain_percent=0.02|0.02|0.02|0.02|0.02|0.02|0.03|0.10|0.06;po_P_loss_source=dbVar:nssv15161064|dbVar:nssv8639619|dbVar:nssv15161370;po_P_loss_coord=14:70028817-82441728|14:73152116-77698582|14:73809922-79301402;po_P_loss_percent=0.17|0.45|0.38;B_gain_source=DDD:43163|dbVar|dgv655e212|dgv657e212;B_gain_coord=chr14:73984520-74526186|chr14:73990657-74053945|14:73995762-74031034|chr14:73996900-74040000|14:73998504-74050492|14:74001111-74024031;B_gain_AFmax=0.1799;B_loss_source=1000g|DDD:43161|DDD:43163|dbVar|dgv401e199|dgv654e212|esv2421969|esv3634909,1000g|DDD:43161|DDD:43163|dbVar|dgv401e199|dgv654e212|esv2421969|esv3634909,1000g|DDD:43161|DDD:43163|DDD:43165|dbVar|dgv401e199|dgv654e212|esv2421969|esv3634909;B_loss_coord=14:73995762-74031034|14:73996446-74025592|14:73997052-74024450|chr14:73997195-74024603|14:73997196-74024603|14:73997196-74024603|14:73998504-74050492|14:73998977-74028117,14:73995762-74031034|14:73996446-74025592|14:73997052-74024450|chr14:73997195-74024603|14:73997196-74024603|14:73997196-74024603|14:73998504-74050492|14:73998977-74028117,14:73995762-74031034|14:73996446-74025592|14:73997052-74024450|chr14:73997195-74024603|14:73997196-74024603|14:73997196-74024603|14:73998504-74050492|14:73998977-74028117|14:74001124-74020979;B_loss_AFmax=0.8135;B_inv_source=IMH;B_inv_coord=14:34547844-76392174;B_inv_AFmax=0.0264;po_B_gain_someG_source=chr14:73990657-74053945_dbVar|chr14:73996900-74040000_dbVar|14:74001111-74024031_dgv657e212|14:74001655-74004589_DDD:43169|14:74007816-74040003_IMH|chr14:74007919-74039902_dbVar|14:74008288-74008463_nsv514748|chr14:74011083-74024007_dbVar|14:74011084-74024007_1000g|14:74020544-74030798_DDD:43176;po_B_gain_someG_coord=chr14:73984520-74526186_dbVar|14:73995762-74031034_dgv655e212|14:73998504-74050492_DDD:43163|14:74001655-74002844_DDD:43168|14:74007603-74039880_IMH|14:74007864-74040335_IMH|14:74007919-74039902_gnomAD-SV_v2.1_DUP_14_38740|14:74010621-74023183_DDD:43174|14:74011084-74024007_1000g|14:74011084-74024007_dgv407e214;po_B_loss_someG_source=14:73996446-74025592_dgv401e199|chr14:73997195-74024603_dbVar|14:73997196-74024603_esv3634909|14:73998977-74028117_esv2421969|14:74002704-74003063_nsv514747|14:74006839-74031034_dgv661e212|14:74010064-74012567_nsv514749|14:74011084-74024007_1000g|chr14:74019700-74051250_dbVar|;po_B_loss_someG_coord=14:73995762-74031034_dgv654e212|14:73997052-74024450_DDD:43161|14:73997196-74024603_1000g|14:73998504-74050492_DDD:43163|14:74001124-74020979_DDD:43165|14:74006839-74024031_dgv660e212|14:74006971-74038879_esv2672436|chr14:74011083-74024007_dbVar|14:74011084-74024007_esv3634910|14:74022142-74045835_DDD:43178;Cosmic_ID=2724245|1059769,2724245|1059769,.;Cosmic_mut_typ=loss,loss,.;GC_content_left=0.42;GC_content_right=0.38;Repeat_coord_left=14:74001513-74001649|14:74001714-74002042;Repeat_type_left=FLAM_A|L1ME4a;Repeat_coord_right=14:74021756-74022225;Repeat_type_right=L1M1;SegDup_left=14:74000099-74020296;DDD_HI_percent=85.75,85.75,79.11;ExAC_synZ=2.96959666946894,-0.328810289068687,2.96959666946894;ExAC_misZ=4.05533207481267,-0.503765753071617,4.05533207481267;NCBI_gene_ID=.,399671,641371;LOEUF_bin=6,6,8;GnomAD_pLI=6.4141e-05,1.3711e-29,6.4141e-05;ExAC_pLI=0.035999,6.2323e-17,0.035999;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(2_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1;END=74022324;SVLEN=-20672 GT 1/. 14 107152093 . C . PASS AnnotSV_ID=14_107152093_107180095_DEL_1;SV_start=107152093;Biologist_ranking=Benign;Annotation_mode=full;CytoBand=q32.33;Closest_left=LINC00221;Closest_right=MIR5195;Gene_count=0;po_P_gain_source=dbVar:nssv15162475|dbVar:nssv15161908|dbVar:nssv15162476|dbVar:nssv15161629|dbVar:nssv15161107|nssv15161424|dbVar:nssv15161067|dbVar:nssv15161689|dbVar:nssv15161760|dbVar:nssv15161081|dbVar:nssv18330720|dbVar:nssv15161039|dbVar:nssv15161040|dbVar:nssv15777241|dbVar:nssv15125898|dbVar:nssv15161535|dbVar:nssv15777234|dbVar:nssv15161537|dbVar:nssv15606082|dbVar:nssv15161360|dbVar:nssv15135151;po_P_gain_coord=14:19000423-107289053|14:19280734-107287663|14:19327824-107287663|14:19794562-107234280|14:20511674-107285437|14:20619309-107263478|14:73750742-107285437|14:74122476-107287505|14:77689139-107287505|14:84537503-107285437|14:86560375-107240869|14:91922206-107240869|14:91969029-107285437|14:93331785-107289540|14:98104858-107263478|14:99794231-107285437|14:99914350-107258824|14:100575918-107281934|14:103788752-107263478|14:106252706-107263478;po_P_gain_percent=0.03|0.03|0.03|0.03|0.03|0.03|0.08|0.08|0.09|0.12|0.14|0.18|0.18|0.20|0.31|0.37|0.38|0.42|0.81|2.77;po_P_loss_source=dbVar:nssv15161324|dbVar:nssv16215328|dbVar:nssv15161030|dbVar:nssv15161062|dbVar:nssv15142554|dbVar:nssv15161267|dbVar:nssv15161579|dbVar:nssv15161268|dbVar:nssv17968992|dbVar:nssv15161102|dbVar:nssv15161557|dbVar:nssv16255573|dbVar:nssv15142555|dbVar:nssv15161354|dbVar:nssv18841864|dbVar:nssv15777252|dbVar:nssv15161369|dbVar:nssv15141232|nssv16208943|dbVar:nssv18830964|dbVar:nssv15150359|dbVar:nssv15161271|dbVar:nssv15161574|dbVar:nssv15161803|dbVar:nssv16208399|dbVar:nssv15142293|dbVar:nssv16208400|dbVar:nssv15120383|dbVar:nssv15137946;po_P_loss_coord=14:95990745-107287708|14:96829291-107287663|14:98404975-107263478|14:100297993-107263478|14:100661320-107285437|14:100775720-107263478|14:101048397-107285437|14:101274638-107263478|14:101732159-107285437|14:102131940-107263478|14:102392008-107284531|14:102615954-107285437|14:102670707-107285437|14:102705760-107285437|14:102729778-107283138|14:102931120-107285437|14:103071434-107287505|14:103153638-107285437|14:103636648-107285437|14:103965060-107285437|14:104251096-107278770|14:104289938-107287505|14:104517596-107285437|14:104764079-107285437|14:104915609-107285437|14:105303585-107285437|14:105489734-107258965|14:106252706-107287505;po_P_loss_percent=0.25|0.27|0.32|0.40|0.42|0.43|0.45|0.47|0.50|0.55|0.57|0.60|0.61|0.61|0.61|0.64|0.66|0.68|0.77|0.84|0.92|0.93|1.01|1.11|1.18|1.41|1.58|2.71;B_gain_source=DDD:43963|TS40:ISCA-37477|dbVar|esv2760346;B_gain_coord=14:106050001-107289540|14:106437088-107285437|14:107136632-107191499|chr14:107146792-107184013;B_gain_AFmax=0.0828;B_loss_source=DDD:43904|DDD:43963|HI40:ISCA-37477|esv2760346;B_loss_coord=14:106050001-107289540|14:106437088-107285437|14:106700994-107266403|14:107136632-107191499;B_loss_AFmax=0.2438;po_B_gain_someG_source=14:106437088-107285437_esv2760346|14:107136632-107191499_DDD:43963|chr14:107138985-107167914_dbVar|14:107145552-107179808_dgv699e212|chr14:107146792-107155491_dbVar|14:107147167-107164532_TS40:ISCA-46684|chr14:107160195-107167914_dbVar|chr14:107169033-107171740_dbVar|chr14:107169033-107184013_dbVar|chr14:107170011-107184013_dbVar|chr14:107171740-107184013_dbVar|chr14:107171740-107186229_dbVar;po_B_gain_someG_coord=14:106050001-107289540_TS40:ISCA-37477|14:106874357-107164992_IMH|chr14:107137417-107155491_dbVar|chr14:107138985-107170011_dbVar|chr14:107145774-107155491_dbVar|chr14:107146792-107184013_dbVar|14:107147167-107164532_dgv428e214|chr14:107160195-107169033_dbVar|chr14:107169033-107177012_dbVar|chr14:107170011-107171740_dbVar|chr14:107170011-107185374_dbVar|chr14:107171740-107185374_dbVar;po_B_loss_someG_source=14:106437088-107285437_esv2760346|14:107054315-107166266_DDD:43951|chr14:107138985-107155491_dbVar|14:107172849-107183396_HI40:ISCA-46673|14:107174372-107174933_IMH|14:107174399-107174927_DDD:43974|;po_B_loss_someG_coord=14:106050001-107289540_HI40:ISCA-37477|14:106700994-107266403_DDD:43904|14:107136632-107191499_DDD:43963|chr14:107171543-107171645_dbVar|14:107172849-107183396_esv3635707|14:107174391-107174931_esv3635708|14:107174399-107174927_esv2665347;GC_content_left=0.355;GC_content_right=0.425;ENCODE_blacklist_left=14:107151001-107176900;ENCODE_blacklist_characteristics_left=High_Signal_Region;AnnotSV_ranking_score=-1.6;AnnotSV_ranking_criteria=1B_(cf_Gene_count,_RE_gene,_-0.60)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(0_gene,_+0.00)|5F_(+0.00);ACMG_class=1;END=107180095;SVLEN=-28002 GT 1/. -15 20432852 . G . PASS AnnotSV_ID=15_20432852_22765687_DUP_1;SV_start=20432852;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q11.1-q11.2,q11.1,q11.1-q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2;Gene_name=CHEK2P2|HERC2P3|GOLGA6L6|GOLGA8CP|NBEAP1|MIR3118-2|POTEB2|MIR5701-1|LINC01193|FAM30C|LOC646214|CXADRP2|POTEB|NF1P2|LINC02203|OR4M2-OT1|OR4M2|OR4N4|OR4N3P|IGHV1OR15-1|IGHV1OR15-3|MIR1268A|REREP3|MIR4509-1|GOLGA8DP|GOLGA6L1,CHEK2P2,HERC2P3,GOLGA6L6,GOLGA8CP,NBEAP1,MIR3118-2,POTEB2,MIR5701-1,LINC01193,FAM30C,LOC646214,CXADRP2,POTEB,NF1P2,LINC02203,OR4M2-OT1,OR4M2,OR4N4,OR4N3P,IGHV1OR15-1,IGHV1OR15-3,MIR1268A,REREP3,MIR4509-1,GOLGA8DP,GOLGA6L1;Closest_right=TUBGCP5;Gene_count=26;Tx=.,NR_038836,NR_036432,NM_001145004,NR_027411,NR_027992,NR_036062,NM_001277303,NR_049886,NR_040094,NR_145444,NR_027053,NR_024387,NM_001277304,NR_028506,NR_152818,NR_110480,NM_001004719,NM_001005241,NR_028067,NR_135694,NR_135666,NR_031672,NR_033735,NR_039732,NR_027407,NM_001001413;Tx_version=.,1,1,2,2,1,2,1,1,1,1,2,1,2,2,1,1,2,4,1,1,1,1,1,1,1,3;Tx_start=.,20487996,20613648,20737093,20767673,20874796,21038123,21040700,21145580,21145766,21208605,21932513,22014402,22051852,22133180,22195582,22278030,22368477,22382472,22413461,22448239,22465805,22513228,22546564,22675147,22702284,22736245;Tx_end=.,20496811,20711433,20747114,20781026,20961480,21038198,21071643,21145662,21198633,21255165,21940739,22016878,22083259,22145802,22199978,22383564,22369561,22383813,22414398,22448881,22466547,22513280,22570831,22675241,22715728,22746002;Overlapped_tx_length=.,8815,97785,10021,13353,86684,75,30943,82,52867,46560,8226,2476,31407,12622,4396,105534,1084,1341,937,642,742,52,24267,94,13444,9757;Overlapped_CDS_length=.,0,0,2175,0,0,0,1635,0,0,0,0,0,1635,0,0,0,942,951,0,0,0,0,0,0,0,2007;Overlapped_CDS_percent=.,0,0,100,0,0,0,100,0,0,0,0,0,100,0,0,0,95,100,0,0,0,0,0,0,0,100;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,6,26,11,18,3,1,11,1,5,4,1,1,11,8,3,9,1,1,1,2,2,1,3,1,18,9;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR;Intersect_start=.,20487996,20613648,20737093,20767673,20874796,21038123,21040700,21145580,21145766,21208605,21932513,22014402,22051852,22133180,22195582,22278030,22368477,22382472,22413461,22448239,22465805,22513228,22546564,22675147,22702284,22736245;Intersect_end=.,20496811,20711433,20747114,20781026,20961480,21038198,21071643,21145662,21198633,21255165,21940739,22016878,22083259,22145802,22199978,22383564,22369561,22383813,22414398,22448881,22466547,22513280,22570831,22675241,22715728,22746002;RE_gene=ADAM22_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AIP_(morbid/RE=mTL_miRNA)|ALPI_(morbid/RE=mTL_miRNA)|BLOC1S3_(morbid/RE=mTL_miRNA)|CA12_(morbid/RE=mTL_miRNA)|CACNA1H_(morbid/RE=mTL_miRNA)|CAMK2G_(morbid/RE=mTL_miRNA)|CDKN1B_(HI=3/morbid/RE=mTL_miRNA)|CERS1_(morbid/RE=mTL_miRNA)|DHCR7_(morbid/RE=mTL_miRNA)|DICER1_(HI=3/morbid/RE=mTL_miRNA)|EDAR_(morbid/RE=mTL_miRNA)|EGLN1_(morbid/RE=mTL_miRNA)|EPB41_(morbid/RE=mTL_miRNA)|EPHA2_(morbid/RE=mTL_miRNA)|ERBB3_(morbid/RE=mTL_miRNA)|FRMPD4_(morbid/RE=mTL_miRNA)|GABPA_(morbid/RE=mTL_miRNA)|GABRB2_(morbid/RE=mTL_miRNA)|GATA6_(HI=3/morbid/RE=mTL_miRNA)|GCK_(morbid/RE=mTL_miRNA)|HPRT1_(HI=3/morbid/RE=mTL_miRNA)|HRAS_(morbid/RE=mTL_miRNA)|HSPD1_(morbid/RE=mTL_miRNA)|IL6ST_(morbid/RE=mTL_miRNA)|INF2_(morbid/RE=mTL_miRNA)|ISCU_(morbid/RE=mTL_miRNA)|KAT6B_(HI=3/morbid/RE=mTL_miRNA)|KCNJ10_(morbid/RE=mTL_miRNA)|KIF23_(morbid/RE=mTL_miRNA)|KLHL3_(morbid/RE=mTL_miRNA)|KMT2D_(HI=3/morbid/RE=mTL_miRNA)|LRIG2_(morbid/RE=mTL_miRNA)|MAGEL2_(morbid/RE=ABC_enhancer)|MAPK1_(morbid/RE=mTL_miRNA)|MAPKAPK5_(morbid/RE=mTL_miRNA)|MKRN3_(morbid/RE=ABC_enhancer)|NDUFS1_(morbid/RE=mTL_miRNA)|NEK9_(morbid/RE=mTL_miRNA)|NIPA1_(morbid/RE=ABC_enhancer)|NOM1_(morbid/RE=mTL_miRNA)|NPM1_(morbid/RE=mTL_miRNA)|NR4A3_(morbid/RE=mTL_miRNA)|ORAI1_(morbid/RE=mTL_miRNA)|PEX26_(morbid/RE=mTL_miRNA)|PIGP_(morbid/RE=mTL_miRNA)|POT1_(morbid/RE=mTL_miRNA)|PRKCA_(morbid/RE=mTL_miRNA)|PRLR_(morbid/RE=mTL_miRNA)...;po_P_gain_source=dbVar:nssv15172447|dbVar:nssv15149081|dbVar:nssv15148902|dbVar:nssv15125410|dbVar:nssv15127689|dbVar:nssv15127462|dbVar:nssv15126524|dbVar:nssv15124656|dbVar:nssv15127659|dbVar:nssv15126021|dbVar:nssv15172190|dbVar:nssv15150569|dbVar:nssv15147052|dbVar:nssv15145742|dbVar:nssv15147053|dbVar:nssv15175556|dbVar:nssv15145744|dbVar:nssv15774514|dbVar:nssv15148785|dbVar:nssv15605894|dbVar:nssv15149135|dbVar:nssv15148575|dbVar:nssv15147687|dbVar:nssv15605895|dbVar:nssv15147058|dbVar:nssv15145747|dbVar:nssv15146452|dbVar:nssv15149084|dbVar:nssv15147355|dbVar:nssv15149616|dbVar:nssv15147801|dbVar:nssv15146958|dbVar:nssv15149124|dbVar:nssv15123304|dbVar:nssv15147513|dbVar:nssv15127079|dbVar:nssv15605897|dbVar:nssv15605899|dbVar:nssv15125414|dbVar:nssv15148135|dbVar:nssv15146406|dbVar:nssv15148053|dbVar:nssv15145661|nssv15146195|dbVar:nssv15145807|dbVar:nssv15147309|dbVar:nssv15145805|nssv15146672|dbVar:nssv15145677|dbVar:nssv18841879|dbVar:nssv16207640|dbVar:nssv16215281|dbVar:nssv15755702|dbVar:nssv15145809|nssv15150756|dbVar:nssv15145849|dbVar:nssv15146718|dbVar:nssv15148834|dbVar:nssv15147450|nssv15148847|dbVar:nssv15146035|dbVar:nssv15148907|dbVar:nssv15146735|dbVar:nssv15148824|dbVar:nssv15146042|dbVar:nssv15147411|dbVar:nssv15147985|dbVar:nssv15148007|dbVar:nssv15146680|dbVar:nssv15147424|dbVar:nssv15148131|dbVar:nssv15145909;po_P_gain_coord=15:20016812-102493540|15:20044343-28924405|15:20045835-32914140|15:20063341-102521392|15:20063341-29093456|15:20063341-29209620|15:20063341-30448351|15:20063341-32439302|15:20063341-32942613|15:20063341-32986584|15:20071674-102461162|15:20071674-30737344|15:20085003-28947309|15:20085003-29210720|15:20085004-28178425|15:20102541-29031690|15:20110723-28408897|15:20179528-32998070|15:20190549-28406650|15:20190549-30300265|15:20190549-32386089|15:20190549-32917801|15:20190549-32917857|15:20191653-28525310|15:20207714-30641396|15:20207714-32413623|15:20251769-28631040|15:20306550-26208861|15:20686197-30509384|15:20733396-102511616|15:20733396-28406650|15:20733396-28406709|15:20848461-27662530|15:21129985-28535266|15:22304597-28577787|15:22318645-29209620|15:22382861-32396457|15:22383300-32917689|15:22409402-28952953|15:22652061-28883749|15:22669053-28435888|15:22698523-28940098|15:22698523-29030517|15:22698523-29085896|15:22698523-30366124|15:22698523-30653936|15:22698523-32899558|15:22742397-28567325|15:22750306-23114374|15:22750306-23164315|15:22750306-23226254|15:22765629-28520313|15:22765629-28557186|15:22765629-28559402|15:22765629-28912057|15:22765629-29006852|15:22765629-29085896|15:22765629-29096442|15:22765629-30366124|15:22765629-30653936|15:22765629-30819509|15:22765629-38837526|15:22765638-28520316|15:22765638-29085888|15:22765638-30366079|15:22765638-31467435|15:22765638-32509932|15:22765638-32899558;po_P_gain_percent=2.83|26.27|18.13|2.83|25.83|25.51|22.46|18.85|18.11|18.05|2.83|21.87|26.32|25.56|28.82|26.13|28.11|18.20|28.39|23.08|19.13|18.33|18.33|27.99|22.36|19.11|27.84|39.52|21.17|2.49|26.49|26.49|28.14|22.09|7.35|6.49|3.82|3.63|5.44|1.82|1.68|1.08|1.06|1.05|0.88|0.84|0.66|0.40|4.23|3.72|3.23|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00;po_P_loss_source=dbVar:nssv16865885|dbVar:nssv18326337|dbVar:nssv15605896|dbVar:nssv15123310|dbVar:nssv18841918|dbVar:nssv16208656|dbVar:nssv18792791|dbVar:nssv16215320|dbVar:nssv15147060|dbVar:nssv15146946|dbVar:nssv15147062|dbVar:nssv15153078|dbVar:nssv18792767|dbVar:nssv15160814|dbVar:nssv15160813|dbVar:nssv15159751|dbVar:nssv15160812|dbVar:nssv16216734|dbVar:nssv16297059|dbVar:nssv15147987|dbVar:nssv16215225|dbVar:nssv16208660|dbVar:nssv15160288|dbVar:nssv15146407|dbVar:nssv15145750|dbVar:nssv16297060|dbVar:nssv15149692|dbVar:nssv15147712|dbVar:nssv15145753|dbVar:nssv15147316|dbVar:nssv15145752|nssv15148282|dbVar:nssv15146196|nssv15146797|dbVar:nssv15146673|dbVar:nssv15147319|dbVar:nssv18326338|dbVar:nssv17955873|dbVar:nssv18842037|dbVar:nssv15145025|dbVar:nssv15145441|dbVar:nssv15145201|dbVar:nssv17517455|dbVar:nssv16297061|dbVar:nssv16208668|dbVar:nssv15129123|dbVar:nssv16215325|dbVar:nssv15130100|dbVar:nssv16209033|dbVar:nssv15172201|dbVar:nssv15606130|dbVar:nssv15132915|nssv16736610|dbVar:nssv16736624|nssv16736646|dbVar:nssv16091751|dbVar:nssv15130140|dbVar:nssv15146040|dbVar:nssv15148147|dbVar:nssv15146043|dbVar:nssv15145953|dbVar:nssv15148915|dbVar:nssv15148857|dbVar:nssv15146645;po_P_loss_coord=15:20612841-23272733|15:20739498-28566579|15:20848751-32925141|15:21129985-32514926|15:21172301-26208861|15:21903816-23272733|15:22070541-23262343|15:22299435-23226254|15:22318598-28940098|15:22427967-23226254|15:22432629-30641396|15:22503622-23091180|15:22646195-23174919|15:22646195-23191269|15:22646195-23199953|15:22646195-23302626|15:22646195-23428906|15:22646693-28964445|15:22646800-23301267|15:22652048-28705151|15:22652331-23226254|15:22652331-23272733|15:22652331-29050198|15:22669053-28435888|15:22669053-30401486|15:22695843-23300942|15:22698523-28406650|15:22698523-28406709|15:22698523-28520313|15:22698523-28557186|15:22698523-28691460|15:22698523-29030517|15:22698523-29085896|15:22698523-38381783|15:22736247-23265381|15:22743128-23246000|15:22744150-23246340|15:22746945-23102836|15:22746945-23121448|15:22746945-23199421|15:22746949-23323445|15:22749636-23301317|15:22750306-23109890|15:22750306-23164315|15:22750306-23222284|15:22750306-23226254|15:22750306-23272733|15:22750306-28535266|15:22751195-23251194|15:22765629-23085096|15:22765629-23191062|15:22765629-23217514|15:22765629-23300287|15:22765629-28559402|15:22765629-28691460|15:22765629-28912057|15:22765629-28940098|15:22765629-28976193|15:22765629-32676855|15:22765638-29085888;po_P_loss_percent=80.94|25.89|15.87|14.37|31.64|62.96|58.33|50.31|6.75|42.31|4.06|44.60|22.60|21.92|21.58|18.20|15.27|1.88|18.17|1.88|19.75|18.27|1.77|1.68|1.25|11.54|1.18|1.18|1.15|1.15|1.12|1.06|1.05|0.43|5.56|4.49|4.29|5.27|5.00|4.14|3.25|2.91|4.28|3.72|3.26|3.23|2.94|0.27|2.90|0.02|0.01|0.01|0.01|0.00|0.00|0.00|0.00|0.00|0.00|0.00;B_gain_source=dgv40e203|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595|nsv514765,DDD:43986|DDD:43992|DDD:44001|DDD:44068|TS40:ISCA-46686|TS40:ISCA-46688|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|DDD:44068|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43992|DDD:44001|DDD:44068|TS40:ISCA-46686|dgv2191n100|dgv40e203|dgv92e55|dgv93e55|esv3892595,DDD:44001|DDD:44096|DDD:44097|DDD:44098|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|DDD:44098|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|DDD:44098|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv92e55|dgv93e55,1000g|DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44114|DDD:44119|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv435e214|dgv92e55|dgv93e55|nsv514767,DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44114|DDD:44119|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv92e55|dgv93e55|nsv514767,1000g|DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44114|DDD:44129|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv437e214|dgv92e55|dgv93e55|nsv514767,1000g|DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44114|DDD:44129|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv438e214|dgv92e55|dgv93e55|nsv514767,1000g|DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44129|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv438e214|dgv92e55|dgv93e55|nsv514767,DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44129|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv92e55|dgv93e55|nsv514767,DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44129|DDD:44147|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv92e55|dgv93e55|nsv514767,DDD:44147|DDD:44168|dbVar|dgv40e203|dgv93e55,DDD:44147|DDD:44168|dbVar|dgv40e203|dgv93e55,dbVar|dgv40e203|dgv93e55;B_gain_coord=15:20016329-23487546|15:20167087-22869764,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060|15:21040437-21077011,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060|15:21069662-21311925|15:21145102-21164300,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060|15:21069662-21311925,15:20016329-23487546|15:20144627-21266621|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|15:21069662-21311925,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793|15:21904679-21949433|15:21906623-22142846,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793|15:21906623-22142846,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793|15:21906623-22142846,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22425022|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22425022|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22425022|chr15:22294059-22472949|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|15:22308418-22455534|chr15:22335841-22425022|chr15:22335841-22590413|chr15:22340286-22590413|chr15:22343965-22372302|15:22343966-22372302|15:22343966-22372302|15:22343966-22372302|15:22343966-22372302|15:22343966-22372302|15:22343966-22372302|chr15:22344732-22425022|15:22360686-22387071,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22425022|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22425022|chr15:22294059-22472949|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|15:22308418-22455534|chr15:22335841-22425022|chr15:22335841-22590413|chr15:22340286-22590413|chr15:22344732-22425022|15:22360686-22387071,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22425022|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22425022|chr15:22294059-22472949|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|15:22308418-22455534|chr15:22335841-22425022|chr15:22335841-22590413|chr15:22340286-22590413|chr15:22344732-22425022|chr15:22383477-22434169|15:22383478-22434169|15:22383478-22434169|15:22383478-22434169|15:22383478-22434169|15:22383478-22434169|15:22411349-22577661,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22472949|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|15:22308418-22455534|chr15:22335841-22590413|chr15:22340286-22590413|15:22411349-22577661|chr15:22425022-22472949|chr15:22425022-22473149|chr15:22425022-22473349|chr15:22425022-22590413|chr15:22446739-22506103|15:22446740-22506103|15:22446740-22506103|15:22446740-22506103|15:22446740-22506103|15:22446740-22506103,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22472949|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|chr15:22335841-22590413|chr15:22340286-22590413|15:22411349-22577661|chr15:22425022-22472949|chr15:22425022-22473149|chr15:22425022-22473349|chr15:22425022-22590413|chr15:22446739-22506103|15:22446740-22506103|15:22446740-22506103|15:22446740-22506103|15:22446740-22506103|15:22446740-22506103,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|chr15:22335841-22590413|chr15:22340286-22590413|15:22411349-22577661|chr15:22425022-22590413|chr15:22473149-22590413,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|chr15:22335841-22590413|chr15:22340286-22590413|15:22411349-22577661|chr15:22425022-22590413|chr15:22473149-22590413|15:22519942-22726364,15:20016329-23487546|15:20167087-22869764|15:22519942-22726364|chr15:22646309-22760311|15:22650162-22738662|chr15:22670204-22760311,15:20016329-23487546|15:20167087-22869764|15:22519942-22726364|chr15:22646309-22760311|15:22650162-22738662|chr15:22670204-22760311,15:20016329-23487546|15:20167087-22869764|chr15:22646309-22760311|chr15:22670204-22760311;B_gain_AFmax=0.15,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.4271,0.4271,0.4271,0.4271,0.4271,0.4271,0.4271,0.15,0.15,0.15;B_loss_source=dgv40e203|dgv94e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|DDD:44068|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|DDD:44068|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|DDD:44068|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|DDD:44097|DDD:44098|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|DDD:44098|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|DDD:44098|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|DDD:44113|DDD:44114|DDD:44119|dbVar|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44001|DDD:44096|DDD:44113|DDD:44114|DDD:44119|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44001|DDD:44096|DDD:44113|DDD:44114|DDD:44129|dbVar|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44001|DDD:44096|DDD:44113|DDD:44114|DDD:44129|dbVar|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44001|DDD:44096|DDD:44113|DDD:44129|dbVar|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44001|DDD:44096|DDD:44113|DDD:44129|DDD:44139|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44001|DDD:44096|DDD:44113|DDD:44129|DDD:44147|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44147|DDD:44168|dgv40e203|dgv94e55,DDD:44147|DDD:44168|dgv40e203|dgv94e55,dgv40e203|dgv94e55;B_loss_coord=15:20016329-23487546|15:20167087-23222284,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21069662-21311925,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21069662-21311925,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21069662-21311925,15:20016329-23487546|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21399090-22661412|15:21904679-21949433|15:21906623-22142846,15:20016329-23487546|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21399090-22661412|15:21906623-22142846,15:20016329-23487546|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21399090-22661412|15:21906623-22142846,15:20016329-23487546|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21399090-22661412,15:20016329-23487546|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21399090-22661412,15:200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_dbVar|chr15:21042050-21056300_dbVar|15:21069662-21311925_DDD:44068|chr15:21282800-21314300_dbVar...;Cosmic_ID=650272|863409|230|2184774|679816|647783|656664|688870|893394|681561|683397|680362|846716|872413|658002|669462|670005|652017|920564|1571937|1923126|2037878|3089073|1104581|1530844|2453908|3049079|1892580|669650|674986|653193|696167|2579336|702830|2734909|1080050|1597023|2373586|2580364|2726476|2754714|661971|679225|1494768|1799616|1254151|670502|658452|2684440|1935900|1278559|...,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,690131|665411|669653|661973|681562|718266|688758|747790|701704|664511,.,.,.,.,.,.,.,.,.,.;Cosmic_mut_typ=loss|gain,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,loss,.,.,.,.,.,.,.,.,.,.;GC_content_left=0.38;GC_content_right=0.455;Repeat_coord_right=15:22765220-22765620|15:22765771-22766019;Repeat_type_right=L1MC4|L2;SegDup_left=15:20345908-20498625|15:20390971-20432871;SegDup_right=15:22754054-22770109;ENCODE_blacklist_left=15:20200401-22365100;ENCODE_blacklist_characteristics_left=High_Signal_Region;DDD_HI_percent=93.81,.,.,93.81,.,.,.,92.58,.,.,.,.,.,91.86,.,.,.,76.23,75.33,.,.,.,.,.,.,.,93.48;ExAC_synZ=2.22375841006203,.,.,0.630577750419089,.,.,.,2.22375841006203,.,.,.,.,.,.,.,.,.,.,-0.271906921498889,.,.,.,.,.,.,.,.;ExAC_misZ=2.58284576037233,.,.,0.0606178603183018,.,.,.,2.58284576037233,.,.,.,.,.,.,.,.,.,.,-0.565772314050669,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,646096,283755,727832,729786,606,100422949,100287399,100847060,348120,654499,.,646243,100996331,440225,727924,101927079,390538,283694,390539,388077,646370,100302233,646396,100616223,100132979,283767;LOEUF_bin=8,.,.,8,.,.,.,8,.,.,.,.,.,9,.,.,.,9,9,.,.,.,.,.,.,.,8;GnomAD_pLI=0.35277,.,.,2.2875000000000003e-19,.,.,.,0.042457,.,.,.,.,.,0.35277,.,.,.,3.9447e-08,5.1332e-05,.,.,.,.,.,.,.,2.3586e-12;ExAC_pLI=0.57189,.,.,0.086864,.,.,.,0.57189,.,.,.,.,.,.,.,.,.,.,0.018051,.,.,.,.,.,.,.,.;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|3A_(26_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1;END=22765687;SVLEN=2332835 GT 1/. -15 20564609 . C . PASS AnnotSV_ID=15_20564609_22409391_DEL_1;SV_start=20564609;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q11.1-q11.2,q11.1-q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2;Gene_name=HERC2P3|GOLGA6L6|GOLGA8CP|NBEAP1|MIR3118-2|POTEB2|MIR5701-1|LINC01193|FAM30C|LOC646214|CXADRP2|POTEB|NF1P2|LINC02203|OR4M2-OT1|OR4M2|OR4N4,HERC2P3,GOLGA6L6,GOLGA8CP,NBEAP1,MIR3118-2,POTEB2,MIR5701-1,LINC01193,FAM30C,LOC646214,CXADRP2,POTEB,NF1P2,LINC02203,OR4M2-OT1,OR4M2,OR4N4;Closest_left=CHEK2P2;Closest_right=OR4N3P;Gene_count=17;Tx=.,NR_036432,NM_001145004,NR_027411,NR_027992,NR_036062,NM_001277303,NR_049886,NR_040094,NR_145444,NR_027053,NR_024387,NM_001277304,NR_028506,NR_152818,NR_110480,NM_001004719,NM_001005241;Tx_version=.,1,2,2,1,2,1,1,1,1,2,1,2,2,1,1,2,4;Tx_start=.,20613648,20737093,20767673,20874796,21038123,21040700,21145580,21145766,21208605,21932513,22014402,22051852,22133180,22195582,22278030,22368477,22382472;Tx_end=.,20711433,20747114,20781026,20961480,21038198,21071643,21145662,21198633,21255165,21940739,22016878,22083259,22145802,22199978,22383564,22369561,22383813;Overlapped_tx_length=.,97785,10021,13353,86684,75,30943,82,52867,46560,8226,2476,31407,12622,4396,105534,1084,1341;Overlapped_CDS_length=.,0,2175,0,0,0,1635,0,0,0,0,0,1635,0,0,0,942,951;Overlapped_CDS_percent=.,0,100,0,0,0,100,0,0,0,0,0,100,0,0,0,95,100;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,26,11,18,3,1,11,1,5,4,1,1,11,8,3,9,1,1;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,5'UTR-3'UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR;Intersect_start=.,20613648,20737093,20767673,20874796,21038123,21040700,21145580,21145766,21208605,21932513,22014402,22051852,22133180,22195582,22278030,22368477,22382472;Intersect_end=.,20711433,20747114,20781026,20961480,21038198,21071643,21145662,21198633,21255165,21940739,22016878,22083259,22145802,22199978,22383564,22369561,22383813;RE_gene=ADAM22_(morbid/RE=mTL_miRNA)|ALPI_(morbid/RE=mTL_miRNA)|CA12_(morbid/RE=mTL_miRNA)|CDKN1B_(HI=3/morbid/RE=mTL_miRNA)|DICER1_(HI=3/morbid/RE=mTL_miRNA)|EDAR_(morbid/RE=mTL_miRNA)|EGLN1_(morbid/RE=mTL_miRNA)|ERBB3_(morbid/RE=mTL_miRNA)|GABRB2_(morbid/RE=mTL_miRNA)|GATA6_(HI=3/morbid/RE=mTL_miRNA)|HSPD1_(morbid/RE=mTL_miRNA)|IL6ST_(morbid/RE=mTL_miRNA)|INF2_(morbid/RE=mTL_miRNA)|ISCU_(morbid/RE=mTL_miRNA)|KAT6B_(HI=3/morbid/RE=mTL_miRNA)|KCNJ10_(morbid/RE=mTL_miRNA)|KLHL3_(morbid/RE=mTL_miRNA)|KMT2D_(HI=3/morbid/RE=mTL_miRNA)|LRIG2_(morbid/RE=mTL_miRNA)|MAGEL2_(morbid/RE=ABC_enhancer)|MAPKAPK5_(morbid/RE=mTL_miRNA)|MKRN3_(morbid/RE=ABC_enhancer)|NDUFS1_(morbid/RE=mTL_miRNA)|NIPA1_(morbid/RE=ABC_enhancer)|NPM1_(morbid/RE=mTL_miRNA)|NR4A3_(morbid/RE=mTL_miRNA)|PEX26_(morbid/RE=mTL_miRNA)|PIGP_(morbid/RE=mTL_miRNA)|POT1_(morbid/RE=mTL_miRNA)|PRLR_(morbid/RE=mTL_miRNA)|PURA_(HI=3/morbid/RE=mTL_miRNA)|RAC3_(morbid/RE=mTL_miRNA)|SH2D1A_(HI=3/morbid/RE=mTL_miRNA)|SKI_(morbid/RE=mTL_miRNA)|SLC6A6_(morbid/RE=mTL_miRNA)|SLC7A14_(morbid/RE=mTL_miRNA)|SLC7A7_(morbid/RE=mTL_miRNA)|SMAD4_(HI=3/morbid/RE=mTL_miRNA)|SMAD6_(morbid/RE=mTL_miRNA)|SMOC1_(morbid/RE=mTL_miRNA)|SMOC2_(morbid/RE=mTL_miRNA)|SOX17_(morbid/RE=mTL_miRNA)|TULP1_(morbid/RE=mTL_miRNA)|USP48_(morbid/RE=mTL_miRNA)|ZBTB18_(HI=3/morbid/RE=mTL_miRNA)|ZNF711_(morbid/RE=mTL_miRNA);po_P_gain_source=dbVar:nssv15172447|dbVar:nssv15149081|dbVar:nssv15148902|dbVar:nssv15125410|dbVar:nssv15127689|dbVar:nssv15127462|dbVar:nssv15126524|dbVar:nssv15124656|dbVar:nssv15127659|dbVar:nssv15126021|dbVar:nssv15172190|dbVar:nssv15150569|dbVar:nssv15147052|dbVar:nssv15145742|dbVar:nssv15147053|dbVar:nssv15175556|dbVar:nssv15145744|dbVar:nssv15774514|dbVar:nssv15148785|dbVar:nssv15605894|dbVar:nssv15149135|dbVar:nssv15148575|dbVar:nssv15147687|dbVar:nssv15605895|dbVar:nssv15147058|dbVar:nssv15145747|dbVar:nssv15146452|dbVar:nssv15149084|dbVar:nssv15147355|dbVar:nssv15149616|dbVar:nssv15147801|dbVar:nssv15146958|dbVar:nssv15149124|dbVar:nssv15123304|dbVar:nssv15147513|dbVar:nssv15127079|dbVar:nssv15605897|dbVar:nssv15605899;po_P_gain_coord=15:20016812-102493540|15:20044343-28924405|15:20045835-32914140|15:20063341-102521392|15:20063341-29093456|15:20063341-29209620|15:20063341-30448351|15:20063341-32439302|15:20063341-32942613|15:20063341-32986584|15:20071674-102461162|15:20071674-30737344|15:20085003-28947309|15:20085003-29210720|15:20085004-28178425|15:20102541-29031690|15:20110723-28408897|15:20179528-32998070|15:20190549-28406650|15:20190549-30300265|15:20190549-32386089|15:20190549-32917801|15:20190549-32917857|15:20191653-28525310|15:20207714-30641396|15:20207714-32413623|15:20251769-28631040|15:20306550-26208861|15:20686197-30509384|15:20733396-102511616|15:20733396-28406650|15:20733396-28406709|15:20848461-27662530|15:21129985-28535266|15:22304597-28577787|15:22318645-29209620|15:22382861-32396457|15:22383300-32917689;po_P_gain_percent=2.24|20.77|14.34|2.24|20.43|20.17|17.76|14.91|14.32|14.27|2.24|17.30|20.82|20.22|22.79|20.66|22.23|14.39|22.45|18.25|15.13|14.49|14.49|22.14|17.68|15.11|22.02|31.26|17.54|2.05|21.84|21.84|22.91|17.28|1.67|1.32|0.26|0.25;po_P_loss_source=dbVar:nssv16865885|dbVar:nssv18326337|dbVar:nssv15605896|dbVar:nssv15123310|dbVar:nssv18841918|dbVar:nssv16208656|dbVar:nssv18792791|dbVar:nssv16215320|dbVar:nssv15147060;po_P_loss_coord=15:20612841-23272733|15:20739498-28566579|15:20848751-32925141|15:21129985-32514926|15:21172301-26208861|15:21903816-23272733|15:22070541-23262343|15:22299435-23226254|15:22318598-28940098;po_P_loss_percent=67.54|21.33|12.92|11.24|24.56|36.93|28.43|11.86|1.37;B_gain_source=DDD:44001|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595|nsv514765,DDD:43986|DDD:43992|DDD:44001|DDD:44068|TS40:ISCA-46686|TS40:ISCA-46688|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|DDD:44068|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43992|DDD:44001|DDD:44068|TS40:ISCA-46686|dgv2191n100|dgv40e203|dgv92e55|dgv93e55|esv3892595,DDD:44001|DDD:44096|DDD:44097|DDD:44098|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|DDD:44098|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|DDD:44098|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv92e55|dgv93e55,1000g|DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44114|DDD:44119|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv435e214|dgv92e55|dgv93e55|nsv514767,DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44114|DDD:44119|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv92e55|dgv93e55|nsv514767;B_gain_coord=15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060|15:21040437-21077011,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060|15:21069662-21311925|15:21145102-21164300,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060|15:21069662-21311925,15:20016329-23487546|15:20144627-21266621|15:20167087-22588036|15:20167087-22869764|15:20182203-2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GT 1/. +15 20432852 . G . PASS AnnotSV_ID=15_20432852_22765687_DUP_1;SV_start=20432852;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q11.1-q11.2,q11.1,q11.1-q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2;Gene_name=CHEK2P2|HERC2P3|GOLGA6L6|GOLGA8CP|NBEAP1|MIR3118-2|POTEB2|MIR5701-1|LINC01193|FAM30C|LOC646214|CXADRP2|POTEB|NF1P2|LINC02203|OR4M2-OT1|OR4M2|OR4N4|OR4N3P|IGHV1OR15-1|IGHV1OR15-3|MIR1268A|REREP3|MIR4509-1|GOLGA8DP|GOLGA6L1,CHEK2P2,HERC2P3,GOLGA6L6,GOLGA8CP,NBEAP1,MIR3118-2,POTEB2,MIR5701-1,LINC01193,FAM30C,LOC646214,CXADRP2,POTEB,NF1P2,LINC02203,OR4M2-OT1,OR4M2,OR4N4,OR4N3P,IGHV1OR15-1,IGHV1OR15-3,MIR1268A,REREP3,MIR4509-1,GOLGA8DP,GOLGA6L1;Closest_right=TUBGCP5;Gene_count=26;Tx=.,NR_038836,NR_036432,NM_001145004,NR_027411,NR_027992,NR_036062,NM_001277303,NR_049886,NR_040094,NR_145444,NR_027053,NR_024387,NM_001277304,NR_028506,NR_152818,NR_110480,NM_001004719,NM_001005241,NR_028067,NR_135694,NR_135666,NR_031672,NR_033735,NR_039732,NR_027407,NM_001001413;Tx_version=.,1,1,2,2,1,2,1,1,1,1,2,1,2,2,1,1,2,4,1,1,1,1,1,1,1,3;Tx_start=.,20487996,20613648,20737093,20767673,20874796,21038123,21040700,21145580,21145766,21208605,21932513,22014402,22051852,22133180,22195582,22278030,22368477,22382472,22413461,22448239,22465805,22513228,22546564,22675147,22702284,22736245;Tx_end=.,20496811,20711433,20747114,20781026,20961480,21038198,21071643,21145662,21198633,21255165,21940739,22016878,22083259,22145802,22199978,22383564,22369561,22383813,22414398,22448881,22466547,22513280,22570831,22675241,22715728,22746002;Overlapped_tx_length=.,8815,97785,10021,13353,86684,75,30943,82,52867,46560,8226,2476,31407,12622,4396,105534,1084,1341,937,642,742,52,24267,94,13444,9757;Overlapped_CDS_length=.,0,0,2175,0,0,0,1635,0,0,0,0,0,1635,0,0,0,942,951,0,0,0,0,0,0,0,2007;Overlapped_CDS_percent=.,0,0,100,0,0,0,100,0,0,0,0,0,100,0,0,0,95,100,0,0,0,0,0,0,0,100;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,6,26,11,18,3,1,11,1,5,4,1,1,11,8,3,9,1,1,1,2,2,1,3,1,18,9;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR;Intersect_start=.,20487996,20613648,20737093,20767673,20874796,21038123,21040700,21145580,21145766,21208605,21932513,22014402,22051852,22133180,22195582,22278030,22368477,22382472,22413461,22448239,22465805,22513228,22546564,22675147,22702284,22736245;Intersect_end=.,20496811,20711433,20747114,20781026,20961480,21038198,21071643,21145662,21198633,21255165,21940739,22016878,22083259,22145802,22199978,22383564,22369561,22383813,22414398,22448881,22466547,22513280,22570831,22675241,22715728,22746002;RE_gene=ADAM22_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AIP_(morbid/RE=mTL_miRNA)|BLOC1S3_(morbid/RE=mTL_miRNA)|CA12_(morbid/RE=mTL_miRNA)|CACNA1H_(morbid/RE=mTL_miRNA)|CAMK2G_(morbid/RE=mTL_miRNA)|CDKN1B_(HI=3/morbid/RE=mTL_miRNA)|CERS1_(morbid/RE=mTL_miRNA)|DHCR7_(morbid/RE=mTL_miRNA)|DICER1_(HI=3/morbid/RE=mTL_miRNA)|EDAR_(morbid/RE=mTL_miRNA)|EGLN1_(morbid/RE=mTL_miRNA)|EPB41_(morbid/RE=mTL_miRNA)|EPHA2_(morbid/RE=mTL_miRNA)|ERBB3_(morbid/RE=mTL_miRNA)|FRMPD4_(morbid/RE=mTL_miRNA)|GABRB2_(morbid/RE=mTL_miRNA)|GATA6_(HI=3/morbid/RE=mTL_miRNA)|GCK_(morbid/RE=mTL_miRNA)|HPRT1_(HI=3/morbid/RE=mTL_miRNA)|HRAS_(morbid/RE=mTL_miRNA)|HSPD1_(morbid/RE=mTL_miRNA)|IL6ST_(morbid/RE=mTL_miRNA)|INF2_(morbid/RE=mTL_miRNA)|ISCU_(morbid/RE=mTL_miRNA)|KAT6B_(HI=3/morbid/RE=mTL_miRNA)|KCNJ10_(morbid/RE=mTL_miRNA)|KIF23_(morbid/RE=mTL_miRNA)|KLHL3_(morbid/RE=mTL_miRNA)|KMT2D_(HI=3/morbid/RE=mTL_miRNA)|LRIG2_(morbid/RE=mTL_miRNA)|MAGEL2_(morbid/RE=ABC_enhancer)|MAPK1_(morbid/RE=mTL_miRNA)|MAPKAPK5_(morbid/RE=mTL_miRNA)|MKRN3_(morbid/RE=ABC_enhancer)|NDUFS1_(morbid/RE=mTL_miRNA)|NEK9_(morbid/RE=mTL_miRNA)|NIPA1_(morbid/RE=ABC_enhancer)|NPM1_(morbid/RE=mTL_miRNA)|ORAI1_(morbid/RE=mTL_miRNA)|PEX26_(morbid/RE=mTL_miRNA)|PIGP_(morbid/RE=mTL_miRNA)|POT1_(morbid/RE=mTL_miRNA)|PRKCA_(morbid/RE=mTL_miRNA)|PRLR_(morbid/RE=mTL_miRNA)|PURA_(HI=3/morbid/RE=mTL_miRNA)|RAC3_(morbid/RE=mTL_miRNA)|SCN1A_(HI=3/morbid/RE=mTL_miRNA)|SGPL1_(morbid/RE=mTL_miRNA)...;po_P_gain_source=dbVar:nssv15172447|dbVar:nssv15149081|dbVar:nssv15148902|dbVar:nssv15125410|dbVar:nssv15127689|dbVar:nssv15127462|dbVar:nssv15126524|dbVar:nssv15124656|dbVar:nssv15127659|dbVar:nssv15126021|dbVar:nssv15172190|dbVar:nssv15150569|dbVar:nssv15147052|dbVar:nssv15145742|dbVar:nssv15147053|dbVar:nssv15175556|dbVar:nssv15145744|dbVar:nssv15774514|dbVar:nssv15148785|dbVar:nssv15605894|dbVar:nssv15149135|dbVar:nssv15148575|dbVar:nssv15147687|dbVar:nssv15605895|dbVar:nssv15147058|dbVar:nssv15145747|dbVar:nssv15146452|dbVar:nssv15149084|dbVar:nssv15147355|dbVar:nssv15149616|dbVar:nssv15147801|dbVar:nssv15146958|dbVar:nssv15149124|dbVar:nssv15123304|dbVar:nssv15147513|dbVar:nssv15127079|dbVar:nssv15605897|dbVar:nssv15605899|dbVar:nssv15125414|dbVar:nssv15148135|dbVar:nssv15146406|dbVar:nssv15148053|dbVar:nssv15145661|nssv15146195|dbVar:nssv15145807|dbVar:nssv15147309|dbVar:nssv15145805|nssv15146672|dbVar:nssv15145677|dbVar:nssv18841879|dbVar:nssv16207640|dbVar:nssv16215281|dbVar:nssv15755702|dbVar:nssv15145809|nssv15150756|dbVar:nssv15145849|dbVar:nssv15146718|dbVar:nssv15148834|dbVar:nssv15147450|nssv15148847|dbVar:nssv15146035|dbVar:nssv15148907|dbVar:nssv15146735|dbVar:nssv15148824|dbVar:nssv15146042|dbVar:nssv15147411|dbVar:nssv15147985|dbVar:nssv15148007|dbVar:nssv15146680|dbVar:nssv15147424|dbVar:nssv15148131|dbVar:nssv15145909;po_P_gain_coord=15:20016812-102493540|15:20044343-28924405|15:20045835-32914140|15:20063341-102521392|15:20063341-29093456|15:20063341-29209620|15:20063341-30448351|15:20063341-32439302|15:20063341-32942613|15:20063341-32986584|15:20071674-102461162|15:20071674-30737344|15:20085003-28947309|15:20085003-29210720|15:20085004-28178425|15:20102541-29031690|15:20110723-28408897|15:20179528-32998070|15:20190549-28406650|15:20190549-30300265|15:20190549-32386089|15:20190549-32917801|15:20190549-32917857|15:20191653-28525310|15:20207714-30641396|15:20207714-32413623|15:20251769-28631040|15:20306550-26208861|15:20686197-30509384|15:20733396-102511616|15:20733396-28406650|15:20733396-28406709|15:20848461-27662530|15:21129985-28535266|15:22304597-28577787|15:22318645-29209620|15:22382861-32396457|15:22383300-32917689|15:22409402-28952953|15:22652061-28883749|15:22669053-28435888|15:22698523-28940098|15:22698523-29030517|15:22698523-29085896|15:22698523-30366124|15:22698523-30653936|15:22698523-32899558|15:22742397-28567325|15:22750306-23114374|15:22750306-23164315|15:22750306-23226254|15:22765629-28520313|15:22765629-28557186|15:22765629-28559402|15:22765629-28912057|15:22765629-29006852|15:22765629-29085896|15:22765629-29096442|15:22765629-30366124|15:22765629-30653936|15:22765629-30819509|15:22765629-38837526|15:22765638-28520316|15:22765638-29085888|15:22765638-30366079|15:22765638-31467435|15:22765638-32509932|15:22765638-32899558;po_P_gain_percent=2.83|26.27|18.13|2.83|25.83|25.51|22.46|18.85|18.11|18.05|2.83|21.87|26.32|25.56|28.82|26.13|28.11|18.20|28.39|23.08|19.13|18.33|18.33|27.99|22.36|19.11|27.84|39.52|21.17|2.49|26.49|26.49|28.14|22.09|7.35|6.49|3.82|3.63|5.44|1.82|1.68|1.08|1.06|1.05|0.88|0.84|0.66|0.40|4.23|3.72|3.23|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00;po_P_loss_source=dbVar:nssv16865885|dbVar:nssv18326337|dbVar:nssv15605896|dbVar:nssv15123310|dbVar:nssv18841918|dbVar:nssv16208656|dbVar:nssv18792791|dbVar:nssv16215320|dbVar:nssv15147060|dbVar:nssv15146946|dbVar:nssv15147062|dbVar:nssv15153078|dbVar:nssv18792767|dbVar:nssv15160814|dbVar:nssv15160813|dbVar:nssv15159751|dbVar:nssv15160812|dbVar:nssv16216734|dbVar:nssv16297059|dbVar:nssv15147987|dbVar:nssv16215225|dbVar:nssv16208660|dbVar:nssv15160288|dbVar:nssv15146407|dbVar:nssv15145750|dbVar:nssv16297060|dbVar:nssv15149692|dbVar:nssv15147712|dbVar:nssv15145753|dbVar:nssv15147316|dbVar:nssv15145752|nssv15148282|dbVar:nssv15146196|nssv15146797|dbVar:nssv15146673|dbVar:nssv15147319|dbVar:nssv18326338|dbVar:nssv17955873|dbVar:nssv18842037|dbVar:nssv15145025|dbVar:nssv15145441|dbVar:nssv15145201|dbVar:nssv17517455|dbVar:nssv16297061|dbVar:nssv16208668|dbVar:nssv15129123|dbVar:nssv16215325|dbVar:nssv15130100|dbVar:nssv16209033|dbVar:nssv15172201|dbVar:nssv15606130|dbVar:nssv15132915|nssv16736610|dbVar:nssv16736624|nssv16736646|dbVar:nssv16091751|dbVar:nssv15130140|dbVar:nssv15146040|dbVar:nssv15148147|dbVar:nssv15146043|dbVar:nssv15145953|dbVar:nssv15148915|dbVar:nssv15148857|dbVar:nssv15146645;po_P_loss_coord=15:20612841-23272733|15:20739498-28566579|15:20848751-32925141|15:21129985-32514926|15:21172301-26208861|15:21903816-23272733|15:22070541-23262343|15:22299435-23226254|15:22318598-28940098|15:22427967-23226254|15:22432629-30641396|15:22503622-23091180|15:22646195-23174919|15:22646195-23191269|15:22646195-23199953|15:22646195-23302626|15:22646195-23428906|15:22646693-28964445|15:22646800-23301267|15:22652048-28705151|15:22652331-23226254|15:22652331-23272733|15:22652331-29050198|15:22669053-28435888|15:22669053-30401486|15:22695843-23300942|15:22698523-28406650|15:22698523-28406709|15:22698523-28520313|15:22698523-28557186|15:22698523-28691460|15:22698523-29030517|15:22698523-29085896|15:22698523-38381783|15:22736247-23265381|15:22743128-23246000|15:22744150-23246340|15:22746945-23102836|15:22746945-23121448|15:22746945-23199421|15:22746949-23323445|15:22749636-23301317|15:22750306-23109890|15:22750306-23164315|15:22750306-23222284|15:22750306-23226254|15:22750306-23272733|15:22750306-28535266|15:22751195-23251194|15:22765629-23085096|15:22765629-23191062|15:22765629-23217514|15:22765629-23300287|15:22765629-28559402|15:22765629-28691460|15:22765629-28912057|15:22765629-28940098|15:22765629-28976193|15:22765629-32676855|15:22765638-29085888;po_P_loss_percent=80.94|25.89|15.87|14.37|31.64|62.96|58.33|50.31|6.75|42.31|4.06|44.60|22.60|21.92|21.58|18.20|15.27|1.88|18.17|1.88|19.75|18.27|1.77|1.68|1.25|11.54|1.18|1.18|1.15|1.15|1.12|1.06|1.05|0.43|5.56|4.49|4.29|5.27|5.00|4.14|3.25|2.91|4.28|3.72|3.26|3.23|2.94|0.27|2.90|0.02|0.01|0.01|0.01|0.00|0.00|0.00|0.00|0.00|0.00|0.00;B_gain_source=dgv40e203|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595|nsv514765,DDD:43986|DDD:43992|DDD:44001|DDD:44068|TS40:ISCA-46686|TS40:ISCA-46688|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|DDD:44068|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43992|DDD:44001|DDD:44068|TS40:ISCA-46686|dgv2191n100|dgv40e203|dgv92e55|dgv93e55|esv3892595,DDD:44001|DDD:44096|DDD:44097|DDD:44098|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|DDD:44098|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|DDD:44098|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv92e55|dgv93e55,1000g|DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44114|DDD:44119|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv435e214|dgv92e55|dgv93e55|nsv514767,DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44114|DDD:44119|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv92e55|dgv93e55|nsv514767,1000g|DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44114|DDD:44129|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv437e214|dgv92e55|dgv93e55|nsv514767,1000g|DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44114|DDD:44129|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv438e214|dgv92e55|dgv93e55|nsv514767,1000g|DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44129|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv438e214|dgv92e55|dgv93e55|nsv514767,DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44129|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv92e55|dgv93e55|nsv514767,DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44129|DDD:44147|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv92e55|dgv93e55|nsv514767,DDD:44147|DDD:44168|dbVar|dgv40e203|dgv93e55,DDD:44147|DDD:44168|dbVar|dgv40e203|dgv93e55,dbVar|dgv40e203|dgv93e55;B_gain_coord=15:20016329-23487546|15:20167087-22869764,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060|15:21040437-21077011,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060|15:21069662-21311925|15:21145102-21164300,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060|15:21069662-21311925,15:20016329-23487546|15:20144627-21266621|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|15:21069662-21311925,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793|15:21904679-21949433|15:21906623-22142846,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793|15:21906623-22142846,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793|15:21906623-22142846,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22425022|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22425022|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22425022|chr15:22294059-22472949|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|15:22308418-22455534|chr15:22335841-22425022|chr15:22335841-22590413|chr15:22340286-22590413|chr15:22343965-22372302|15:22343966-22372302|15:22343966-22372302|15:22343966-22372302|15:22343966-22372302|15:22343966-22372302|15:22343966-22372302|chr15:22344732-22425022|15:22360686-22387071,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22425022|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22425022|chr15:22294059-22472949|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|15:22308418-22455534|chr15:22335841-22425022|chr15:22335841-22590413|chr15:22340286-22590413|chr15:22344732-22425022|15:22360686-22387071,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22425022|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22425022|chr15:22294059-22472949|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|15:22308418-22455534|chr15:22335841-22425022|chr15:22335841-22590413|chr15:22340286-22590413|chr15:22344732-22425022|chr15:22383477-22434169|15:22383478-22434169|15:22383478-22434169|15:22383478-22434169|15:22383478-22434169|15:22383478-22434169|15:22411349-22577661,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22472949|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|15:22308418-22455534|chr15:22335841-22590413|chr15:22340286-22590413|15:22411349-22577661|chr15:22425022-22472949|chr15:22425022-22473149|chr15:22425022-22473349|chr15:22425022-22590413|chr15:22446739-22506103|15:22446740-22506103|15:22446740-22506103|15:22446740-22506103|15:22446740-22506103|15:22446740-22506103,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22472949|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|chr15:22335841-22590413|chr15:22340286-22590413|15:22411349-22577661|chr15:22425022-22472949|chr15:22425022-22473149|chr15:22425022-22473349|chr15:22425022-22590413|chr15:22446739-22506103|15:22446740-22506103|15:22446740-22506103|15:22446740-22506103|15:22446740-22506103|15:22446740-22506103,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|chr15:22335841-22590413|chr15:22340286-22590413|15:22411349-22577661|chr15:22425022-22590413|chr15:22473149-22590413,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|chr15:22335841-22590413|chr15:22340286-22590413|15:22411349-22577661|chr15:22425022-22590413|chr15:22473149-22590413|15:22519942-22726364,15:20016329-23487546|15:20167087-22869764|15:22519942-22726364|chr15:22646309-22760311|15:22650162-22738662|chr15:22670204-22760311,15:20016329-23487546|15:20167087-22869764|15:22519942-22726364|chr15:22646309-22760311|15:22650162-22738662|chr15:22670204-22760311,15:20016329-23487546|15:20167087-22869764|chr15:22646309-22760311|chr15:22670204-22760311;B_gain_AFmax=0.15,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.4271,0.4271,0.4271,0.4271,0.4271,0.4271,0.4271,0.15,0.15,0.15;B_loss_source=dgv40e203|dgv94e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|DDD:44068|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|DDD:44068|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|DDD:44068|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|DDD:44097|DDD:44098|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|DDD:44098|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|DDD:44098|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|DDD:44113|DDD:44114|DDD:44119|dbVar|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44001|DDD:44096|DDD:44113|DDD:44114|DDD:44119|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44001|DDD:44096|DDD:44113|DDD:44114|DDD:44129|dbVar|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44001|DDD:44096|DDD:44113|DDD:44114|DDD:44129|dbVar|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44001|DDD:44096|DDD:44113|DDD:44129|dbVar|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44001|DDD:44096|DDD:44113|DDD:44129|DDD:44139|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44001|DDD:44096|DDD:44113|DDD:44129|DDD:44147|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44147|DDD:44168|dgv40e203|dgv94e55,DDD:44147|DDD:44168|dgv40e203|dgv94e55,dgv40e203|dgv94e55;B_loss_coord=15:20016329-23487546|15:20167087-23222284,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21069662-21311925,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21069662-21311925,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21069662-21311925,15:20016329-23487546|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21399090-22661412|15:21904679-21949433|15:21906623-22142846,15:20016329-23487546|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21399090-22661412|15:21906623-22142846,15:20016329-23487546|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21399090-22661412|15:21906623-22142846,15:20016329-23487546|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21399090-22661412,15:20016329-23487546|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21399090-22661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3-21017994_dbVar|chr15:21042050-21056300_dbVar|15:21069662-21311925_DDD:44068|chr15:21282800-21314300_dbVar...;Cosmic_ID=650272|863409|230|2184774|679816|647783|656664|688870|893394|681561|683397|680362|846716|872413|658002|669462|670005|652017|920564|1571937|1923126|2037878|3089073|1104581|1530844|2453908|3049079|1892580|669650|674986|653193|696167|2579336|702830|2734909|1080050|1597023|2373586|2580364|2726476|2754714|661971|679225|1494768|1799616|1254151|670502|658452|2684440|1935900|1278559|...,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,690131|665411|669653|661973|681562|718266|688758|747790|701704|664511,.,.,.,.,.,.,.,.,.,.;Cosmic_mut_typ=loss|gain,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,loss,.,.,.,.,.,.,.,.,.,.;GC_content_left=0.38;GC_content_right=0.455;Repeat_coord_right=15:22765220-22765620|15:22765771-22766019;Repeat_type_right=L1MC4|L2;SegDup_left=15:20345908-20498625|15:20390971-20432871;SegDup_right=15:22754054-22770109;ENCODE_blacklist_left=15:20200401-22365100;ENCODE_blacklist_characteristics_left=High_Signal_Region;DDD_HI_percent=93.81,.,.,93.81,.,.,.,92.58,.,.,.,.,.,91.86,.,.,.,76.23,75.33,.,.,.,.,.,.,.,93.48;ExAC_synZ=2.22375841006203,.,.,0.630577750419089,.,.,.,2.22375841006203,.,.,.,.,.,.,.,.,.,.,-0.271906921498889,.,.,.,.,.,.,.,.;ExAC_misZ=2.58284576037233,.,.,0.0606178603183018,.,.,.,2.58284576037233,.,.,.,.,.,.,.,.,.,.,-0.565772314050669,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,646096,283755,727832,729786,606,100422949,100287399,100847060,348120,654499,.,646243,100996331,440225,727924,101927079,390538,283694,390539,388077,646370,100302233,646396,100616223,100132979,283767;LOEUF_bin=8,.,.,8,.,.,.,8,.,.,.,.,.,9,.,.,.,9,9,.,.,.,.,.,.,.,8;GnomAD_pLI=0.35277,.,.,2.2875000000000003e-19,.,.,.,0.042457,.,.,.,.,.,0.35277,.,.,.,3.9447e-08,5.1332e-05,.,.,.,.,.,.,.,2.3586e-12;ExAC_pLI=0.57189,.,.,0.086864,.,.,.,0.57189,.,.,.,.,.,.,.,.,.,.,0.018051,.,.,.,.,.,.,.,.;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|3A_(26_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1;END=22765687;SVLEN=2332835 GT 1/. +15 20564609 . C . PASS AnnotSV_ID=15_20564609_22409391_DEL_1;SV_start=20564609;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q11.1-q11.2,q11.1-q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2,q11.2;Gene_name=HERC2P3|GOLGA6L6|GOLGA8CP|NBEAP1|MIR3118-2|POTEB2|MIR5701-1|LINC01193|FAM30C|LOC646214|CXADRP2|POTEB|NF1P2|LINC02203|OR4M2-OT1|OR4M2|OR4N4,HERC2P3,GOLGA6L6,GOLGA8CP,NBEAP1,MIR3118-2,POTEB2,MIR5701-1,LINC01193,FAM30C,LOC646214,CXADRP2,POTEB,NF1P2,LINC02203,OR4M2-OT1,OR4M2,OR4N4;Closest_left=CHEK2P2;Closest_right=OR4N3P;Gene_count=17;Tx=.,NR_036432,NM_001145004,NR_027411,NR_027992,NR_036062,NM_001277303,NR_049886,NR_040094,NR_145444,NR_027053,NR_024387,NM_001277304,NR_028506,NR_152818,NR_110480,NM_001004719,NM_001005241;Tx_version=.,1,2,2,1,2,1,1,1,1,2,1,2,2,1,1,2,4;Tx_start=.,20613648,20737093,20767673,20874796,21038123,21040700,21145580,21145766,21208605,21932513,22014402,22051852,22133180,22195582,22278030,22368477,22382472;Tx_end=.,20711433,20747114,20781026,20961480,21038198,21071643,21145662,21198633,21255165,21940739,22016878,22083259,22145802,22199978,22383564,22369561,22383813;Overlapped_tx_length=.,97785,10021,13353,86684,75,30943,82,52867,46560,8226,2476,31407,12622,4396,105534,1084,1341;Overlapped_CDS_length=.,0,2175,0,0,0,1635,0,0,0,0,0,1635,0,0,0,942,951;Overlapped_CDS_percent=.,0,100,0,0,0,100,0,0,0,0,0,100,0,0,0,95,100;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,26,11,18,3,1,11,1,5,4,1,1,11,8,3,9,1,1;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,5'UTR-3'UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR;Intersect_start=.,20613648,20737093,20767673,20874796,21038123,21040700,21145580,21145766,21208605,21932513,22014402,22051852,22133180,22195582,22278030,22368477,22382472;Intersect_end=.,20711433,20747114,20781026,20961480,21038198,21071643,21145662,21198633,21255165,21940739,22016878,22083259,22145802,22199978,22383564,22369561,22383813;RE_gene=ADAM22_(morbid/RE=mTL_miRNA)|CA12_(morbid/RE=mTL_miRNA)|CDKN1B_(HI=3/morbid/RE=mTL_miRNA)|DICER1_(HI=3/morbid/RE=mTL_miRNA)|EDAR_(morbid/RE=mTL_miRNA)|EGLN1_(morbid/RE=mTL_miRNA)|ERBB3_(morbid/RE=mTL_miRNA)|GABRB2_(morbid/RE=mTL_miRNA)|GATA6_(HI=3/morbid/RE=mTL_miRNA)|HSPD1_(morbid/RE=mTL_miRNA)|IL6ST_(morbid/RE=mTL_miRNA)|INF2_(morbid/RE=mTL_miRNA)|ISCU_(morbid/RE=mTL_miRNA)|KAT6B_(HI=3/morbid/RE=mTL_miRNA)|KCNJ10_(morbid/RE=mTL_miRNA)|KLHL3_(morbid/RE=mTL_miRNA)|KMT2D_(HI=3/morbid/RE=mTL_miRNA)|LRIG2_(morbid/RE=mTL_miRNA)|MAGEL2_(morbid/RE=ABC_enhancer)|MAPKAPK5_(morbid/RE=mTL_miRNA)|MKRN3_(morbid/RE=ABC_enhancer)|NDUFS1_(morbid/RE=mTL_miRNA)|NIPA1_(morbid/RE=ABC_enhancer)|NPM1_(morbid/RE=mTL_miRNA)|PEX26_(morbid/RE=mTL_miRNA)|PIGP_(morbid/RE=mTL_miRNA)|POT1_(morbid/RE=mTL_miRNA)|PRLR_(morbid/RE=mTL_miRNA)|PURA_(HI=3/morbid/RE=mTL_miRNA)|RAC3_(morbid/RE=mTL_miRNA)|SH2D1A_(HI=3/morbid/RE=mTL_miRNA)|SKI_(morbid/RE=mTL_miRNA)|SLC6A6_(morbid/RE=mTL_miRNA)|SLC7A14_(morbid/RE=mTL_miRNA)|SLC7A7_(morbid/RE=mTL_miRNA)|SMAD4_(HI=3/morbid/RE=mTL_miRNA)|SMAD6_(morbid/RE=mTL_miRNA)|SMOC1_(morbid/RE=mTL_miRNA)|SMOC2_(morbid/RE=mTL_miRNA)|SOX17_(morbid/RE=mTL_miRNA)|TULP1_(morbid/RE=mTL_miRNA)|USP48_(morbid/RE=mTL_miRNA)|ZBTB18_(HI=3/morbid/RE=mTL_miRNA)|ZNF711_(morbid/RE=mTL_miRNA);po_P_gain_source=dbVar:nssv15172447|dbVar:nssv15149081|dbVar:nssv15148902|dbVar:nssv15125410|dbVar:nssv15127689|dbVar:nssv15127462|dbVar:nssv15126524|dbVar:nssv15124656|dbVar:nssv15127659|dbVar:nssv15126021|dbVar:nssv15172190|dbVar:nssv15150569|dbVar:nssv15147052|dbVar:nssv15145742|dbVar:nssv15147053|dbVar:nssv15175556|dbVar:nssv15145744|dbVar:nssv15774514|dbVar:nssv15148785|dbVar:nssv15605894|dbVar:nssv15149135|dbVar:nssv15148575|dbVar:nssv15147687|dbVar:nssv15605895|dbVar:nssv15147058|dbVar:nssv15145747|dbVar:nssv15146452|dbVar:nssv15149084|dbVar:nssv15147355|dbVar:nssv15149616|dbVar:nssv15147801|dbVar:nssv15146958|dbVar:nssv15149124|dbVar:nssv15123304|dbVar:nssv15147513|dbVar:nssv15127079|dbVar:nssv15605897|dbVar:nssv15605899;po_P_gain_coord=15:20016812-102493540|15:20044343-28924405|15:20045835-32914140|15:20063341-102521392|15:20063341-29093456|15:20063341-29209620|15:20063341-30448351|15:20063341-32439302|15:20063341-32942613|15:20063341-32986584|15:20071674-102461162|15:20071674-30737344|15:20085003-28947309|15:20085003-29210720|15:20085004-28178425|15:20102541-29031690|15:20110723-28408897|15:20179528-32998070|15:20190549-28406650|15:20190549-30300265|15:20190549-32386089|15:20190549-32917801|15:20190549-32917857|15:20191653-28525310|15:20207714-30641396|15:20207714-32413623|15:20251769-28631040|15:20306550-26208861|15:20686197-30509384|15:20733396-102511616|15:20733396-28406650|15:20733396-28406709|15:20848461-27662530|15:21129985-28535266|15:22304597-28577787|15:22318645-29209620|15:22382861-32396457|15:22383300-32917689;po_P_gain_percent=2.24|20.77|14.34|2.24|20.43|20.17|17.76|14.91|14.32|14.27|2.24|17.30|20.82|20.22|22.79|20.66|22.23|14.39|22.45|18.25|15.13|14.49|14.49|22.14|17.68|15.11|22.02|31.26|17.54|2.05|21.84|21.84|22.91|17.28|1.67|1.32|0.26|0.25;po_P_loss_source=dbVar:nssv16865885|dbVar:nssv18326337|dbVar:nssv15605896|dbVar:nssv15123310|dbVar:nssv18841918|dbVar:nssv16208656|dbVar:nssv18792791|dbVar:nssv16215320|dbVar:nssv15147060;po_P_loss_coord=15:20612841-23272733|15:20739498-28566579|15:20848751-32925141|15:21129985-32514926|15:21172301-26208861|15:21903816-23272733|15:22070541-23262343|15:22299435-23226254|15:22318598-28940098;po_P_loss_percent=67.54|21.33|12.92|11.24|24.56|36.93|28.43|11.86|1.37;B_gain_source=DDD:44001|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595|nsv514765,DDD:43986|DDD:43992|DDD:44001|DDD:44068|TS40:ISCA-46686|TS40:ISCA-46688|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43986|DDD:43992|DDD:44001|DDD:44068|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv91e55|dgv92e55|dgv93e55|esv3892595,DDD:43992|DDD:44001|DDD:44068|TS40:ISCA-46686|dgv2191n100|dgv40e203|dgv92e55|dgv93e55|esv3892595,DDD:44001|DDD:44096|DDD:44097|DDD:44098|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|DDD:44098|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|DDD:44098|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|TS40:ISCA-46686|dbVar|dgv2191n100|dgv40e203|dgv92e55|dgv93e55,DDD:44001|DDD:44096|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv92e55|dgv93e55,1000g|DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44114|DDD:44119|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv435e214|dgv92e55|dgv93e55|nsv514767,DDD:44001|DDD:44096|DDD:44106|DDD:44113|DDD:44114|DDD:44119|dbVar|dgv2191n100|dgv3e224|dgv40e203|dgv92e55|dgv93e55|nsv514767;B_gain_coord=15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|chr15:20198164-20894589|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060|15:21040437-21077011,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060|15:21069662-21311925|15:21145102-21164300,15:20016329-23487546|15:20037886-21236662|15:20144627-21266621|15:20167087-21200251|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|chr15:20935189-21205060|chr15:21033616-21205060|15:21069662-21311925,15:20016329-23487546|15:20144627-21266621|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:20751226-21293606|15:21069662-21311925,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793|15:21904679-21949433|15:21906623-22142846,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793|15:21906623-22142846,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793|15:21906623-22142846,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:20388742-22207639|15:21399090-22661412|chr15:21885000-22208557|chr15:21885406-22211793,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22425022|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22425022|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22425022|chr15:22294059-22472949|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|15:22308418-22455534|chr15:22335841-22425022|chr15:22335841-22590413|chr15:22340286-22590413|chr15:22343965-22372302|15:22343966-22372302|15:22343966-22372302|15:22343966-22372302|15:22343966-22372302|15:22343966-22372302|15:22343966-22372302|chr15:22344732-22425022|15:22360686-22387071,15:20016329-23487546|15:20167087-22588036|15:20167087-22869764|15:20182203-22608281|15:20203950-22588019|15:21399090-22661412|chr15:22262252-22425022|chr15:22262252-22473149|chr15:22262252-22590413|15:22267463-22591752|15:22278200-22574827|chr15:22294059-22425022|chr15:22294059-22472949|chr15:22294059-22590413|15:22304657-22588026|15:22307890-22657533|15:22308418-22455534|chr15:22335841-22425022|chr15:22335841-22590413|chr15:22340286-22590413|chr15:22344732-22425022|15:22360686-22387071;B_gain_AFmax=0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.39,0.4271,0.4271;B_loss_source=DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|DDD:44068|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|DDD:44068|dgv40e203|dgv94e55|dgv96e55,DDD:43992|DDD:44001|DDD:44068|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|DDD:44097|DDD:44098|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|DDD:44098|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|DDD:44098|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|dgv40e203|dgv94e55|dgv96e55,DDD:44001|DDD:44096|DDD:44113|DDD:44114|DDD:44119|dbVar|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767,DDD:44001|DDD:44096|DDD:44113|DDD:44114|DDD:44119|dgv100e55|dgv2373n100|dgv40e203|dgv94e55|dgv96e55|nsv514767;B_loss_coord=15:20016329-23487546|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21069662-21311925,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21069662-21311925,15:20016329-23487546|15:20144627-21266621|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21069662-21311925,15:20016329-23487546|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21399090-22661412|15:21904679-21949433|15:21906623-22142846,15:20016329-23487546|15:20167087-23222284|15:20167090-22588036|15:20182203-22608281|15:21399090-22661412|15:21906623-2214284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GT 1/. 15 34735950 . 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PASS AnnotSV_ID=15_34735950_34806953_DEL_1;SV_start=34735950;Biologist_ranking=Benign;Annotation_mode=full;CytoBand=q14;Closest_left=MIR1233-1;Closest_right=GOLGA8B;Gene_count=0;RE_gene=ACTC1_(morbid/RE=ABC_enhancer)|RYR3_(morbid/RE=ABC_enhancer)|SLC12A6_(morbid/RE=ABC_enhancer+EA_enhancer);po_P_gain_source=dbVar:nssv15172447|dbVar:nssv15125410|dbVar:nssv15172190|dbVar:nssv15149616|dbVar:nssv15147411|dbVar:nssv15150618|nssv15150717|dbVar:nssv15151655|dbVar:nssv15145681;po_P_gain_coord=15:20016812-102493540|15:20063341-102521392|15:20071674-102461162|15:20733396-102511616|15:22765629-38837526|15:22770423-102429112|15:31115048-102354857|15:32899500-35492630;po_P_gain_percent=0.09|0.09|0.09|0.09|0.44|0.09|0.10|2.74;po_P_loss_source=dbVar:nssv15147319|dbVar:nssv16208403|dbVar:nssv15127755|dbVar:nssv15148236|dbVar:nssv15127602|dbVar:nssv16208407|dbVar:nssv15154730|dbVar:nssv15146365|dbVar:nssv15146268|dbVar:nssv17976656|dbVar:nssv16208948|dbVar:nssv18788041;po_P_loss_coord=15:22698523-38381783|15:22770422-36861479|15:23622527-102521392|15:25279017-37496505|15:29209621-102521392|15:31675453-35689958|15:32446830-34868996|15:32618338-39686269|15:32928005-40526026|15:33809651-40027263|15:34197489-38656254|15:34526073-35087019;po_P_loss_percent=0.45|0.50|0.09|0.58|0.10|1.77|2.93|1.00|0.93|1.14|1.59|12.66;B_gain_source=1000g|dbVar;B_gain_coord=chr15:34705000-34821150|chr15:34721236-34836826|15:34721237-34836826;B_gain_AFmax=0.0144;B_loss_source=1000g|DDD:44673|DDD:44674|HI40:ISCA-46481|HI40:ISCA-46482|dbVar|dgv2562n100|dgv313n27|dgv43e203|esv3636115|esv3892663|gnomAD-SV_v2.1_DEL_15_146738|gnomAD-SV_v2.1_DEL_15_146739|nsv517751;B_loss_coord=15:34647569-34871296|15:34674031-35008201|15:34674425-35009836|15:34678778-34862723|15:34710127-34856557|chr15:34710127-34856557|15:34710127-34856557|15:34714112-34830932|15:34718595-34807869|15:34718595-34871296|chr15:34721236-34836826|15:34721237-34836826|15:34721237-34836826|15:34726358-34872885|chr15:34726358-34872885|15:34726358-34872885;B_loss_AFmax=0.168;po_B_gain_someG_source=chr15:34705000-34821150_dbVar|15:34721237-34836826_1000g|15:34741740-34742019_1000g|chr15:34781752-34783391_dbVar|chr15:34786870-34788046_dbVar|chr15:34791917-34796571_dbVar|chr15:34802630-35336031_dbVar|chr15:34805510-34816065_dbVar|;po_B_gain_someG_coord=chr15:34700842-34794920_dbVar|chr15:34721236-34836826_dbVar|chr15:34725414-34781752_dbVar|chr15:34757312-34797576_dbVar|chr15:34783391-34800233_dbVar|chr15:34790329-34791917_dbVar|chr15:34796871-34800233_dbVar|chr15:34805510-34805809_dbVar|chr15:34805809-34807439_dbVar;po_B_loss_someG_source=15:34674031-35008201_DDD:44673|15:34678778-34862723_dgv43e203|chr15:34710127-34856557_dbVar|15:34714112-34830932_dgv2562n100|15:34718595-34807869_esv3892663|chr15:34721236-34836826_dbVar|15:34721237-34836826_esv3636115|chr15:34726358-34872885_dbVar|15:34741740-34742019_1000g|15:34741749-34742029_esv2678102|15:34741752-34742021_gnomAD-SV_v2.1_DEL_15_146741|chr15:34746988-34747300_dbVar|15:34779146-34783492_esv2667455|chr15:34785640-34786870_dbVar|15:34802473-34810922_1000g|15:34802548-34810836_DDD:44684|15:34802595-34810858_gnomAD-SV_v2.1_DEL_15_146744;po_B_loss_someG_coord=15:34647569-34871296_nsv517751|15:34674425-35009836_DDD:44674|15:34710127-34856557_HI40:ISCA-46481|15:34710127-34856557_gnomAD-SV_v2.1_DEL_15_146738|15:34718595-34800595_dgv312n27|15:34718595-34871296_dgv313n27|15:34721237-34836826_1000g|15:34726358-34872885_HI40:ISCA-46482|15:34726358-34872885_gnomAD-SV_v2.1_DEL_15_146739|chr15:34741740-34742019_dbVar|chr15:34741752-34742021_dbVar|chr15:34743793-34743843_dbVar|15:34746988-34747300_gnomAD-SV_v2.1_DEL_15_146743|15:34779302-34783300_DDD:44682|chr15:34802472-34810922_dbVar|15:34802473-34810922_esv3636118|chr15:34802595-34810858_dbVar;Cosmic_ID=177092|177093|29065|399343|175022|377509|379876|998882|10752|358334|456471|1026888|1027127|659804|298049|778754|2316987|1960483|1963174|2258547|335699|1675608|1880863|1091757|1285545|1305919|1410197|1489091|1977713|494211|718453|1876389|2561157;Cosmic_mut_typ=loss|gain;GC_content_left=0.34;GC_content_right=0.66;SegDup_left=15:34730084-34776964;SegDup_right=15:34782963-34820866|15:34800001-34813836;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(0_gene,_+0.00)|5F_(+0.00);ACMG_class=1;END=34806953;SVLEN=-71003 GT 1/. 16 1565630 . T . PASS AnnotSV_ID=16_1565630_1571297_DUP_1;SV_start=1565630;Biologist_annotation=IFT140_tandem_duplication;Biologist_ranking=Pathogenic;Annotation_mode=full,split;CytoBand=p13.3;Gene_name=IFT140;Closest_left=TELO2;Closest_right=TMEM204;Gene_count=1;Tx=.,NM_014714;Tx_version=.,4;Tx_start=.,1560427;Tx_end=.,1662073;Overlapped_tx_length=.,5668;Overlapped_CDS_length=.,729;Overlapped_CDS_percent=.,16;Frameshift=.,no;Exon_count=.,31;Location=.,intron26-intron30;Location2=.,CDS;Dist_nearest_SS=.,488;Nearest_SS_type=.,3';Intersect_start=.,1565629;Intersect_end=.,1571297;P_gain_source=dbVar:nssv17973053;P_gain_coord=16:1568198-1570829;P_loss_source=dbVar:nssv16208781;P_loss_coord=16:1568218-1570809;po_P_gain_phen=Cranioectodermal_dysplasia|Saldino-Mainzer_syndrome|Joubert_syndrome_with_Jeune_asphyxiating_thoracic_dystrophy;po_P_gain_source=dbVar:nssv15158812|dbVar:nssv15148703|dbVar:nssv15147067|dbVar:nssv15148669|dbVar:nssv15147068|dbVar:nssv17649874|dbVar:nssv15152396|dbVar:nssv15150758|dbVar:nssv15149904|dbVar:nssv15154767|dbVar:nssv16254459|dbVar:nssv15149503|dbVar:nssv15150639|nssv15151292|dbVar:nssv15158813|dbVar:nssv15158224|dbVar:nssv15147425|dbVar:nssv15147959|dbVar:nssv15147069|dbVar:nssv15148094|dbVar:nssv15147790|dbVar:nssv8639650|dbVar:nssv15606077|dbVar:nssv18326373|dbVar:nssv15146792|dbVar:nssv15147071|dbVar:nssv15145754|dbVar:nssv15155466|dbVar:nssv17955877|dbVar:nssv18841986|CLN:513805;po_P_gain_coord=16:61452-90294632|16:69194-90274381|16:73142-11390552|16:78802-9169448|16:79942-2610461|16:84486-5251013|16:85881-11209288|16:85881-19806921|16:85881-22442007|16:85881-3216551|16:85881-5249457|16:85881-9883129|16:85882-90155062|16:88166-90163275|16:88166-90274695|16:93733-13420663|16:96767-11619372|16:96767-3264623|16:96767-4297186|16:97134-5122974|16:102840-28327676|16:109979-4316797|16:111044-6627459|16:716663-15836961|16:1271652-2283774|16:1328823-1969149|16:1505185-4415346|16:1561202-1573469|16:1565604-1571309|16:1565629-1571298;po_P_gain_percent=0.01|0.01|0.05|0.06|0.22|0.11|0.05|0.03|0.03|0.18|0.11|0.06|0.01|0.01|0.01|0.04|0.05|0.18|0.13|0.11|0.02|0.13|0.09|0.04|0.56|0.89|0.19|46.20|99.33|99.96;po_P_loss_phen=Retinitis_pigmentosa_80,_617781_(3)_AR|Short-rib_thoracic_dysplasia_9_with_or_without_polydactyly,_266920_(3)_AR;po_P_loss_source=dbVar:nssv15173022|dbVar:nssv15145815|dbVar:nssv15147164|dbVar:nssv15155465|dbVar:nssv15776300|dbVar:nssv15146945|dbVar:nssv15148829|dbVar:nssv15148018|dbVar:nssv15145816|dbVar:nssv18790909|nssv18790910|dbVar:nssv15771714|dbVar:nssv16214818|dbVar:nssv18792796|dbVar:nssv16214651|morbid:IFT140;po_P_loss_coord=16:61452-1593645|16:73142-1762524|16:73142-1823350|16:85881-1875694|16:85881-2053328|16:88166-1715454|16:96723-1917328|16:96767-1594015|16:96767-2047583|16:256303-1657267|16:624056-2115656|16:624056-2148005|16:811897-2130379|16:1203719-2185710|16:1560428-1662073;po_P_loss_percent=0.37|0.34|0.32|0.32|0.29|0.35|0.31|0.38|0.29|0.40|0.38|0.37|0.43|0.58|5.58;P_snvindel_nb=13;P_snvindel_phen=Jeune_thoracic_dystrophy|Retinal_dystrophy|Retinitis_pigmentosa|Retinitis_pigmentosa_80|Saldino-Mainzer_syndrome;po_B_gain_someG_coord=chr16:1527000-1569000_dbVar;GC_content_left=0.52;GC_content_right=0.5;Repeat_coord_left=16:1565418-1565697|16:1565698-1565893;Repeat_type_left=AluJr|L1MEf;Repeat_coord_right=16:1571134-1571365;Repeat_type_right=AluJb;HI=.,30;DDD_HI_percent=69.24;ExAC_delZ=-1.52736818830718;ExAC_dupZ=-0.448946429663129;ExAC_cnvZ=-0.844654865976432;ExAC_synZ=-0.922111894578121;ExAC_misZ=-1.23259677674915;GenCC_disease=.,IFT140-related_recessive_ciliopathy|Jeune_syndrome|Leber_congenital_amaurosis|autosomal_dominant_polycystic_kidney_disease|retinitis_pigmentosa|retinitis_pigmentosa_80|short-rib_thoracic_dysplasia_9_with_or_without_polydactyly;GenCC_moi=.,AD|AR;GenCC_classification=.,Definitive|Strong|Supportive;GenCC_pmid=.,154653|22503633|22503633[PMID]|22503633[PMID]_23418020[PMID]_24009529[PMID]|23418020|24009529|26216056|26216056[PMID]|26968735|30479745|31034313;NCBI_gene_ID=.,9742;OMIM_ID=614620;OMIM_phenotype=.,Retinitis_pigmentosa_80,_617781_(3)_AR|Short-rib_thoracic_dysplasia_9_with_or_without_polydactyly,_266920_(3)_AR;OMIM_inheritance=.,AR;OMIM_morbid=yes;LOEUF_bin=4;GnomAD_pLI=9.914e-24;ExAC_pLI=9.1377e-18;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_gain_source,_+1.00)|2I-3_(IFT140,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=5,full=5;END=1571297;SVLEN=5667 GT 1/. 16 31955077 . C . PASS AnnotSV_ID=16_31955077_34702366_DUP_1;SV_start=31955077;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p11.2-p11.1,p11.2,p11.2,p11.2,p11.2,p11.2,p11.2,p11.2,p11.2,p11.2,p11.2,p11.2,p11.2,p11.2,p11.2,p11.2,p11.2,p11.2-p11.1;Gene_name=LOC102723753|HERC2P4|TP53TG3D|LOC390705|LOC107987382|TP53TG3|SLC6A10P|TP53TG3C|LOC105369266|TP53TG3B|LOC107987386|ENPP7P13|MIR9901|CCNYL3|UBE2MP1|LOC112268173|LINC01566,LOC102723753,HERC2P4,TP53TG3D,LOC390705,LOC107987382,TP53TG3,SLC6A10P,TP53TG3C,LOC105369266,TP53TG3B,LOC107987386,ENPP7P13,MIR9901,CCNYL3,UBE2MP1,LOC112268173,LINC01566;Closest_left=ZNF267;Closest_right=FRG2DP;Gene_count=17;Tx=.,NR_135178,NR_109773,NM_001243722,NR_033866,NR_171659,NM_016212,NR_003083,NM_001205259,NR_158162,NM_001099687,NR_171660,NR_130771,NR_162093,NR_158158,NR_002837,NR_157261,NR_027080;Tx_version=.,1,1,3,1,1,5,3,3,1,4,1,1,1,1,1,1,2;Tx_start=.,32163432,32181363,32264606,32300867,32611681,32684850,32888793,33205546,33215160,33262081,33298270,33571843,33966044,34264719,34403801,34430129,34597786;Tx_end=.,32199434,32199434,32267249,32301302,32626892,32687486,32896463,33208179,33232409,33264719,33319296,33586742,33966140,34294699,34404762,34431919,34626084;Overlapped_tx_length=.,36002,18071,2643,435,15211,2636,7670,2633,17249,2638,21026,14899,96,29980,961,1790,28298;Overlapped_CDS_length=.,0,0,375,0,0,375,0,375,0,375,0,0,0,0,0,0,0;Overlapped_CDS_percent=.,0,0,100,0,0,100,0,100,0,100,0,0,0,0,0,0,0;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,25,14,2,1,8,2,9,2,6,2,5,3,1,11,1,1,7;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,UTR,UTR,UTR;Intersect_start=.,32163432,32181363,32264606,32300867,32611681,32684850,32888793,33205546,33215160,33262081,33298270,33571843,33966044,34264719,34403801,34430129,34597786;Intersect_end=.,32199434,32199434,32267249,32301302,32626892,32687486,32896463,33208179,33232409,33264719,33319296,33586742,33966140,34294699,34404762,34431919,34626084;RE_gene=ARMC5_(morbid/RE=GH_promoter);po_P_gain_source=dbVar:nssv15158812|dbVar:nssv15148703|dbVar:nssv15150639|nssv15151292|dbVar:nssv15158813|dbVar:nssv15158224|dbVar:nssv16216874|dbVar:nssv15126545|dbVar:nssv15133058|dbVar:nssv15126469|dbVar:nssv15150356;po_P_gain_coord=16:61452-90294632|16:69194-90274381|16:85882-90155062|16:88166-90163275|16:88166-90274695|16:5805002-34230001|16:24381954-33923059|16:30703234-35147508|16:31986099-90294753|16:34197493-64509054;po_P_gain_percent=3.04|3.05|3.05|3.05|3.05|8.00|20.63|61.82|4.66|1.67;po_P_loss_source=dbVar:nssv15141243;po_P_loss_coord=16:28826163-34375007;po_P_loss_percent=43.61;B_gain_source=.,DDD:47058|DDD:47062|DDD:47063|dbVar|dgv50e203,DDD:47058|DDD:47062|DDD:47063|dbVar|dgv50e203,DDD:47058|DDD:47062|DDD:47063|dbVar|dgv50e203|esv2421440,DDD:47058|DDD:47062|DDD:47063|dbVar|dgv50e203|esv2421440,1000g|DDD:47058|DDD:47062|DDD:47063|DDD:47091|IMH|dbVar|dgv507e214|dgv50e203|dgv821e212|esv2421440,DDD:47058|DDD:47062|DDD:47063|IMH|dbVar|dgv50e203|dgv821e212|esv2421440,DDD:47058|DDD:47062|DDD:47063|IMH|dbVar|dgv50e203|dgv821e212,DDD:47058|DDD:47062|DDD:47113|IMH|dbVar|dgv50e203|dgv821e212,DDD:47058|DDD:47062|DDD:47113|IMH|dbVar|dgv50e203|dgv821e212,DDD:47058|DDD:47062|DDD:47113|DDD:47114|IMH|dbVar|dgv50e203|dgv821e212,DDD:47058|DDD:47062|DDD:47113|DDD:47114|DDD:47116|IMH|dgv50e203|dgv821e212,DDD:47058|DDD:47062|DDD:47114|DDD:47116|DDD:47126|DDD:47131|DDD:47136|dbVar|dgv50e203|dgv821e212|nsv514803,dgv50e203,TS40:ISCA-37481|dbVar|dgv51e203|nsv516385,TS40:ISCA-37481|dbVar|dgv51e203|nsv516385,TS40:ISCA-37481|dbVar|dgv117e55|dgv51e203|nsv516385,1000g|DDD:47173|DDD:47179|DDD:47183|TS40:ISCA-37481|dbVar|dgv117e55|dgv2962n100|dgv51e203|dgv824e212|esv2421698|esv3638500|gnomAD-SV_v2.1_DUP_16_42078|gnomAD-SV_v2.1_DUP_16_42081|nsv514804|nsv516385;B_gain_coord=.,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|chr16:32127889-32379212|16:32129166-32904510|chr16:32150000-32329000|chr16:32163177-32379212,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|chr16:32127889-32379212|16:32129166-32904510|chr16:32150000-32329000|chr16:32163177-32379212,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|chr16:32127889-32379212|16:32129166-32904510|chr16:32150000-32329000|chr16:32163177-32379212|16:32257510-32714406,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|chr16:32127889-32379212|16:32129166-32904510|chr16:32150000-32329000|chr16:32163177-32379212|16:32257510-32714406,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406|16:32345385-33344188|chr16:32471402-32942494|chr16:32490199-32627933|chr16:32490199-32942494|16:32511180-33912324|16:32589803-32684945|chr16:32603879-32651988|chr16:32611029-32642738|16:32611030-32642738|16:32611030-32642738|16:32611030-32642738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406|16:32345385-33344188|chr16:32471402-32942494|chr16:32490199-32942494|16:32511180-33912324|chr16:32651988-32942494,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32345385-33344188|chr16:32471402-32942494|chr16:32490199-32942494|16:32511180-33912324|chr16:32651988-32942494,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32345385-33344188|16:32511180-33912324|chr16:33106071-33292140|16:33204449-33378738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32345385-33344188|16:32511180-33912324|chr16:33106071-33292140|16:33204449-33378738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32345385-33344188|16:32511180-33912324|chr16:33106071-33292140|16:33204449-33378738|16:33230271-33739925,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32345385-33344188|16:32511180-33912324|16:33204449-33378738|16:33230271-33739925|16:33270420-33827235,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32511180-33912324|16:33230271-33739925|16:33270420-33827235|16:33302092-33630727|16:33473790-33628580|16:33526621-33659628|chr16:33549000-33642000|chr16:33551705-33589259|chr16:33551705-33589453|16:33560604-33662009|chr16:33561954-33589259|chr16:33566225-33589259|chr16:33569214-33589259,16:31749454-34012168,chr16:34189000-34557000|16:34197352-35283226|16:34202089-35147508|16:34259806-34805859,chr16:34189000-34557000|16:34197352-35283226|16:34202089-35147508|16:34259806-34805859,chr16:34189000-34557000|16:34197352-35283226|16:34202089-35147508|16:34259806-34805859|16:34410570-34796531,16:34197352-35283226|16:34202089-35147508|16:34259806-34805859|16:34410570-34796531|16:34441796-34784591|16:34445084-34774280|16:34456525-34736855|chr16:34456676-34760206|chr16:34457085-34712399|16:34457086-34712399|16:34457086-34712399|chr16:34465000-34757000|16:34465000-34757000|16:34470705-34757071|16:34471852-34731191|16:34476781-34747070|16:34567146-34656231|chr16:34572795-34661165|16:34572795-34661165|chr16:34579398-34644534|chr16:34579398-34687954;B_gain_AFmax=.,0.1314,0.1314,0.1314,0.1314,0.8086,0.3314,0.3314,0.3314,0.3314,0.3314,0.515,0.515,0.07,0.06,0.06,0.09,0.1875;B_loss_source=.,DDD:47057|DDD:47058|DDD:47062|DDD:47063|dgv50e203,DDD:47057|DDD:47058|DDD:47062|DDD:47063|dgv50e203,DDD:47057|DDD:47058|DDD:47062|DDD:47063|dgv50e203|esv2421440,DDD:47057|DDD:47058|DDD:47062|DDD:47063|DDD:47074|dgv50e203|esv2421440,DDD:47058|DDD:47062|DDD:47063|DDD:47074|DDD:47081|DDD:47087|DDD:47091|DDD:47092|dbVar|dgv50e203|dgv819e212|esv2421440,DDD:47058|DDD:47062|DDD:47063|DDD:47074|HI40:ISCA-46492|dbVar|dgv50e203|dgv819e212|esv2421440,DDD:47058|DDD:47062|DDD:47063|dgv50e203,DDD:47058|DDD:47062|DDD:47113|dgv50e203,DDD:47058|DDD:47062|DDD:47113|dgv50e203,DDD:47058|DDD:47062|DDD:47113|DDD:47114|dgv50e203,DDD:47058|DDD:47062|DDD:47113|DDD:47114|dgv50e203,DDD:47058|DDD:47062|DDD:47114|DDD:47126|dgv50e203,dgv50e203,HI40:ISCA-37481|dbVar,HI40:ISCA-37481|dbVar,HI40:ISCA-37481|dbVar,HI40:ISCA-37481|dbVar;B_loss_coord=.,16:31749454-34012168|16:32052946-32496748|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510,16:31749454-34012168|16:32052946-32496748|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510,16:31749454-34012168|16:32052946-32496748|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406,16:31749454-34012168|16:32052946-32496748|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406|16:32298051-32812316,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406|16:32298051-32812316|16:32485788-32648832|16:32511180-32878155|16:32541493-32648861|16:32589803-32684945|16:32590685-32653097|chr16:32611029-32642738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406|16:32298051-32812316|16:32511180-32878155|16:32656000-32802000|chr16:32656000-32802000,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33204449-33378738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33204449-33378738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33204449-33378738|16:33230271-33739925,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33204449-33378738|16:33230271-33739925,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33230271-33739925|16:33473790-33628580,16:31749454-34012168,chr16:34197000-34310700|chr16:34197000-34434000|16:34202089-35147508,chr16:34197000-34434000|16:34202089-35147508,chr16:34197000-34434000|16:34202089-35147508,16:34202089-35147508|chr16:34457085-34712399;B_loss_AFmax=.,0.1692,0.1692,0.23,0.23,0.23,0.23,0.1692,0.0715,0.0715,0.1243,0.1243,0.1243,0.05,0.01,0.01,0.01,0.01;B_inv_source=IMH;B_inv_coord=16:24121264-80276578|16:29238285-88227116,16:24121264-80276578|16:29238285-88227116,16:24121264-80276578|16:29238285-88227116,16:24121264-80276578|16:29238285-88227116,16:24121264-80276578|16:29238285-88227116,16:24121264-80276578|16:29238285-88227116|16:32354183-33512427|16:32354247-33512560,16:24121264-80276578|16:29238285-88227116|16:32354183-33512427|16:32354247-33512560,16:24121264-80276578|16:29238285-88227116|16:32354183-33512427|16:32354247-33512560,16:24121264-80276578|16:29238285-88227116|16:32354183-33512427|16:32354247-33512560,16:24121264-80276578|16:29238285-88227116|16:32354183-33512427|16:32354247-33512560,16:24121264-80276578|16:29238285-88227116|16:32354183-33512427|16:32354247-33512560,16:24121264-80276578|16:29238285-88227116|16:32354183-33512427|16:32354247-33512560,16:24121264-80276578|16:29238285-88227116,16:24121264-80276578|16:29238285-88227116,16:24121264-80276578|16:29238285-88227116|16:34180655-46447887|16:34188883-46442460,16:24121264-80276578|16:29238285-88227116|16:34180655-46447887|16:34188883-46442460,16:24121264-80276578|16:29238285-88227116|16:34180655-46447887|16:34188883-46442460,16:24121264-80276578|16:29238285-88227116|16:34180655-46447887|16:34188883-46442460;B_inv_AFmax=0.4996;po_B_gain_someG_source=16:31749454-34012168_dgv50e203|chr16:31972000-31977000_dbVar|chr16:31988999-32093700_dbVar|16:31989000-32033000_gnomAD-SV_v2.1_DUP_16_42016|chr16:31998945-32000382_dbVar|chr16:32000382-32163177_dbVar|chr16:32020000-32026200_dbVar|16:32020000-32096000_TS40:ISCA-46491|16:32020000-32096000_gnomAD-SV_v2.1_DUP_16_42022|chr16:32042250-32083000_dbVar|chr16:32092602-32163177_dbVar|chr16:32127889-32379212_dbVar|chr16:32150000-32329000_dbVar|16:32193431-32193767_DDD:47069|16:32202950-32209100_gnomAD-SV_v2.1_DUP_16_42026|16:32232000-32237100_gnomAD-SV_v2.1_DUP_16_42027|chr16:32328771-32370968_dbVar|16:32328772-32370968_1000g|chr16:32328900-32377200_dbVar|chr16:32366481-32410672_dbVar...;po_B_gain_someG_coord=chr16:31669999-31991400_dbVar|chr16:31969000-31997000_dbVar|16:31985111-31985155_DDD:47053|chr16:31989000-32033000_dbVar|chr16:31998194-32020170_dbVar|chr16:32000382-32092602_dbVar|chr16:32008999-32020100_dbVar|16:32020000-32026200_gnomAD-SV_v2.1_DUP_16_42021|chr16:32020000-32096000_dbVar|chr16:32029000-32037000_dbVar|16:32055083-33851279_DDD:47058|16:32123333-33664028_DDD:47062|16:32129166-32904510_DDD:47063|chr16:32163177-32379212_dbVar|chr16:32202950-32209100_dbVar|chr16:32232000-32237100_dbVar|16:32257510-32714406_esv2421440|16:32328772-32370968_1000g|16:32328772-32370968_dgv504e214|16:32345385-33344188_IMH...;po_B_loss_someG_source=chr16:31933999-31991400_dbVar|chr16:31986799-32041500_dbVar|chr16:31998194-32020170_dbVar|chr16:32036000-32041500_dbVar|16:32055083-33851279_DDD:47058|16:32129166-32904510_DDD:47063|chr16:32289883-32289979_dbVar|16:32298051-32812316_DDD:47074|chr16:32328771-32370968_dbVar|chr16:32366481-32410672_dbVar|chr16:32393247-32393542_dbVar|chr16:32473466-32473664_dbVar|16:32485788-32648832_DDD:47081|16:32489448-32622550_dgv4e224|chr16:32494596-32496820_dbVar|chr16:32511665-32511727_dbVar|16:32524651-32525229_IMH|16:32532282-32533735_IMH|16:32562331-32601372_IMH|chr16:32586298-32586783_dbVar...;po_B_loss_someG_coord=16:31749454-34012168_dgv50e203|chr16:31971409-31971474_dbVar|chr16:31986800-31999150_dbVar|chr16:32010600-32020000_dbVar|16:32052946-32496748_DDD:47057|16:32123333-33664028_DDD:47062|16:32257510-32714406_esv2421440|chr16:32294372-32294452_dbVar|chr16:32312790-32313754_dbVar|16:32328772-32370968_1000g|chr16:32373626-32373758_dbVar|chr16:32418983-32469917_dbVar|chr16:32485126-32485204_dbVar|16:32486808-32486871_DDD:47084|chr16:32491490-32496732_dbVar|16:32511180-32878155_dgv819e212|16:32518848-32519371_IMH|16:32525918-32525974_IMH|16:32541493-32648861_DDD:47087|16:32562341-32600296_IMH...;Cosmic_ID=867177|91567|353034|353631|846410|889780|602068|920215|656674|844820|928993|916990|882610|882781|913386|921568|602754|906717|909308|917780|926463|907306|918212|883393|881329|893721|893981|899737|917511|923245|924117|2606399|1093900|1094650|1192145|1453959|2693617|2151152|2692204|2913452|2253963|2648708|1487532|2616160|2182684|2494773|2639896|73921|926125|915894|606563|...;Cosmic_mut_typ=gain|loss;GC_content_left=0.225;GC_content_right=0.335;Repeat_coord_left=16:31948879-31955047|16:31955090-31955836;Repeat_type_left=L1PA3|L1M4c;DDD_HI_percent=94.39,.,.,92.49,.,.,94.39,.,91.96,.,92.24,.,.,.,.,.,.,.;ExAC_synZ=1.56757328357025,.,.,1.56757328357025,.,.,.,.,.,.,.,.,.,.,.,.,.,.;ExAC_misZ=2.11426077975333,.,.,2.11426077975333,.,.,.,.,.,.,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,.,100289574,729264,.,.,24150,386757,653550,.,729355,.,104644205,113218496,102724928,606551,.,283914;LOEUF_bin=9,.,.,9,.,.,.,.,.,.,.,.,.,.,.,.,.,.;GnomAD_pLI=0.0075995,.,.,0.0075995,.,.,.,.,.,.,.,.,.,.,.,.,.,.;ExAC_pLI=0.64106,.,.,0.64106,.,.,.,.,.,.,.,.,.,.,.,.,.,.;AnnotSV_ranking_score=0;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2G_(cf_po_B_gain_someG_source,_+0.00)|3A_(17_genes,_+0.00)|5F_(+0.00);ACMG_class=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3;END=34702366;SVLEN=2747289 GT 1/. 16 32471626 . C . PASS AnnotSV_ID=16_32471626_33487672_DEL_1;SV_start=32471626;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split;CytoBand=p11.2;Gene_name=LOC107987382|TP53TG3|SLC6A10P|TP53TG3C|LOC105369266|TP53TG3B|LOC107987386,LOC107987382,TP53TG3,SLC6A10P,TP53TG3C,LOC105369266,TP53TG3B,LOC107987386;Closest_left=LOC390705;Closest_right=ENPP7P13;Gene_count=7;Tx=.,NR_171659,NM_016212,NR_003083,NM_001205259,NR_158162,NM_001099687,NR_171660;Tx_version=.,1,5,3,3,1,4,1;Tx_start=.,32611681,32684850,32888793,33205546,33215160,33262081,33298270;Tx_end=.,32626892,32687486,32896463,33208179,33232409,33264719,33319296;Overlapped_tx_length=.,15211,2636,7670,2633,17249,2638,21026;Overlapped_CDS_length=.,0,375,0,375,0,375,0;Overlapped_CDS_percent=.,0,100,0,100,0,100,0;Frameshift=.,no,no,no,no,no,no,no;Exon_count=.,8,2,9,2,6,2,5;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR;Intersect_start=.,32611681,32684850,32888793,33205546,33215160,33262081,33298270;Intersect_end=.,32626892,32687486,32896463,33208179,33232409,33264719,33319296;po_P_gain_source=dbVar:nssv15158812|dbVar:nssv15148703|dbVar:nssv15150639|nssv15151292|dbVar:nssv15158813|dbVar:nssv15158224|dbVar:nssv16216874|dbVar:nssv15126545|dbVar:nssv15133058|dbVar:nssv15126469;po_P_gain_coord=16:61452-90294632|16:69194-90274381|16:85882-90155062|16:88166-90163275|16:88166-90274695|16:5805002-34230001|16:24381954-33923059|16:30703234-35147508|16:31986099-90294753;po_P_gain_percent=1.13|1.13|1.13|1.13|1.13|3.57|10.65|22.86|1.74;po_P_loss_source=dbVar:nssv15141243;po_P_loss_coord=16:28826163-34375007;po_P_loss_percent=18.31;B_gain_source=DDD:47058|DDD:47062|dgv50e203,1000g|DDD:47058|DDD:47062|DDD:47063|DDD:47091|IMH|dbVar|dgv507e214|dgv50e203|dgv821e212|esv2421440,DDD:47058|DDD:47062|DDD:47063|IMH|dbVar|dgv50e203|dgv821e212|esv2421440,DDD:47058|DDD:47062|DDD:47063|IMH|dbVar|dgv50e203|dgv821e212,DDD:47058|DDD:47062|DDD:47113|IMH|dbVar|dgv50e203|dgv821e212,DDD:47058|DDD:47062|DDD:47113|IMH|dbVar|dgv50e203|dgv821e212,DDD:47058|DDD:47062|DDD:47113|DDD:47114|IMH|dbVar|dgv50e203|dgv821e212,DDD:47058|DDD:47062|DDD:47113|DDD:47114|DDD:47116|IMH|dgv50e203|dgv821e212;B_gain_coord=16:31749454-34012168|16:32055083-33851279|16:32123333-33664028,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406|16:32345385-33344188|chr16:32471402-32942494|chr16:32490199-32627933|chr16:32490199-32942494|16:32511180-33912324|16:32589803-32684945|chr16:32603879-32651988|chr16:32611029-32642738|16:32611030-32642738|16:32611030-32642738|16:32611030-32642738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406|16:32345385-33344188|chr16:32471402-32942494|chr16:32490199-32942494|16:32511180-33912324|chr16:32651988-32942494,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32345385-33344188|chr16:32471402-32942494|chr16:32490199-32942494|16:32511180-33912324|chr16:32651988-32942494,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32345385-33344188|16:32511180-33912324|chr16:33106071-33292140|16:33204449-33378738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32345385-33344188|16:32511180-33912324|chr16:33106071-33292140|16:33204449-33378738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32345385-33344188|16:32511180-33912324|chr16:33106071-33292140|16:33204449-33378738|16:33230271-33739925,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32345385-33344188|16:32511180-33912324|16:33204449-33378738|16:33230271-33739925|16:33270420-33827235;B_gain_AFmax=0.07,0.8086,0.3314,0.3314,0.3314,0.3314,0.3314,0.515;B_loss_source=DDD:47058|DDD:47062|dgv50e203,DDD:47058|DDD:47062|DDD:47063|DDD:47074|DDD:47081|DDD:47087|DDD:47091|DDD:47092|dbVar|dgv50e203|dgv819e212|esv2421440,DDD:47058|DDD:47062|DDD:47063|DDD:47074|HI40:ISCA-46492|dbVar|dgv50e203|dgv819e212|esv2421440,DDD:47058|DDD:47062|DDD:47063|dgv50e203,DDD:47058|DDD:47062|DDD:47113|dgv50e203,DDD:47058|DDD:47062|DDD:47113|dgv50e203,DDD:47058|DDD:47062|DDD:47113|DDD:47114|dgv50e203,DDD:47058|DDD:47062|DDD:47113|DDD:47114|dgv50e203;B_loss_coord=16:31749454-34012168|16:32055083-33851279|16:32123333-33664028,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406|16:32298051-32812316|16:32485788-32648832|16:32511180-32878155|16:32541493-32648861|16:32589803-32684945|16:32590685-32653097|chr16:32611029-32642738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406|16:32298051-32812316|16:32511180-32878155|16:32656000-32802000|chr16:32656000-32802000,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33204449-33378738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33204449-33378738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33204449-33378738|16:33230271-33739925,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33204449-33378738|16:33230271-33739925;B_loss_AFmax=0.0715,0.23,0.23,0.1692,0.0715,0.0715,0.1243,0.1243;B_inv_source=IMH;B_inv_coord=16:24121264-80276578|16:29238285-88227116|16:32354183-33512427|16:32354247-33512560;B_inv_AFmax=0.4996;po_B_gain_someG_source=16:32055083-33851279_DDD:47058|16:32129166-32904510_DDD:47063|16:32345385-33344188_IMH|chr16:32452605-32490199_dbVar|chr16:32471402-32603879_dbVar|16:32473116-32486576_DDD:47080|16:32489448-32622550_dgv4e224|chr16:32490199-32627933_dbVar|chr16:32510679-32510887_dbVar|16:32589803-32684945_DDD:47091|chr16:32603879-32651988_dbVar|16:32611030-32642738_1000g|16:32611030-32642738_dgv507e214|chr16:32656764-32657401_dbVar|chr16:32740800-32750700_dbVar|chr16:32831659-32863935_dbVar|16:32831660-32863935_1000g|16:32831660-32863935_dgv508e214|chr16:32903491-32927819_dbVar|16:32903492-32927819_dgv509e214...;po_B_gain_someG_coord=16:31749454-34012168_dgv50e203|16:32123333-33664028_DDD:47062|16:32257510-32714406_esv2421440|chr16:32379212-32490199_dbVar|chr16:32452605-32603879_dbVar|chr16:32471402-32942494_dbVar|16:32486529-32486871_DDD:47082|chr16:32490199-32603879_dbVar|chr16:32490199-32942494_dbVar|16:32511180-33912324_dgv821e212|chr16:32591655-32592550_dbVar|chr16:32611029-32642738_dbVar|16:32611030-32642738_1000g|chr16:32651988-32942494_dbVar|16:32684868-32688916_DDD:47098|16:32740800-32750700_gnomAD-SV_v2.1_DUP_16_42037|16:32831660-32863935_1000g|16:32831660-32863935_1000g|16:32900256-32908555_nsv514802|16:32903492-32927819_1000g...;po_B_loss_someG_source=16:32052946-32496748_DDD:47057|16:32123333-33664028_DDD:47062|16:32257510-32714406_esv2421440|chr16:32473466-32473664_dbVar|16:32485788-32648832_DDD:47081|16:32489448-32622550_dgv4e224|chr16:32494596-32496820_dbVar|chr16:32511665-32511727_dbVar|16:32524651-32525229_IMH|16:32532282-32533735_IMH|16:32562331-32601372_IMH|chr16:32586298-32586783_dbVar|16:32588181-32590788_1000g|16:32589803-32684945_DDD:47091|chr16:32598581-32602963_dbVar|16:32598582-32602963_esv3638436|16:32600138-32601847_IMH|16:32600306-32601869_1000g|16:32600344-32601845_IMH|chr16:32611029-32642738_dbVar...;po_B_loss_someG_coord=16:31749454-34012168_dgv50e203|16:32055083-33851279_DDD:47058|16:32129166-32904510_DDD:47063|16:32298051-32812316_DDD:47074|chr16:32485126-32485204_dbVar|16:32486808-32486871_DDD:47084|chr16:32491490-32496732_dbVar|16:32511180-32878155_dgv819e212|16:32518848-32519371_IMH|16:32525918-32525974_IMH|16:32541493-32648861_DDD:47087|16:32562341-32600296_IMH|chr16:32588180-32590788_dbVar|16:32588181-32590788_esv3638433|16:32590685-32653097_DDD:47092|16:32598582-32602963_1000g|chr16:32598863-32598991_dbVar|chr16:32600305-32601869_dbVar|16:32600306-32601869_esv3638437|16:32600531-32601385_IMH...;Cosmic_ID=648719|1019197|1024072|650740|664134|659810|662750|680372|700711|663041|687752|647804|669214|687945|678392|673066|650929|691320|677227|667456|685071|690589|682294|668120|652867|699971|679825|701586|690156|694132|664617|684688|668303|660676|681693|690990|670781|1020690|898894|655763|881905|818836|660363|674708|1024694|1024914|676793|1026893|1023636|819090|811320|...;Cosmic_mut_typ=loss|gain;GC_content_left=0.255;GC_content_right=0.275;Repeat_coord_left=16:32471562-32471589;Repeat_type_left=AT_rich;SegDup_left=16:32328196-32493021|16:32333061-32489849|16:32333061-32492391|16:32462184-32472474;SegDup_right=16:33363548-33517471|16:33465320-33517471|16:33466597-33509202;DDD_HI_percent=94.39,.,94.39,.,91.96,.,92.24,.;NCBI_gene_ID=.,.,24150,386757,653550,.,729355,.;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(7_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1;END=33487672;SVLEN=-1016046 GT 1/. 16 33371444 . A . PASS AnnotSV_ID=16_33371444_34285848_DUP_1;SV_start=33371444;Biologist_ranking=Benign;Annotation_mode=full,split,split,split;CytoBand=p11.2;Gene_name=ENPP7P13|MIR9901|CCNYL3,ENPP7P13,MIR9901,CCNYL3;Closest_left=LOC107987386;Closest_right=UBE2MP1;Gene_count=3;Tx=.,NR_130771,NR_162093,NR_158158;Tx_version=.,1,1,1;Tx_start=.,33571843,33966044,34264719;Tx_end=.,33586742,33966140,34294699;Overlapped_tx_length=.,14899,96,21129;Overlapped_CDS_length=.,0,0,0;Overlapped_CDS_percent=.,0,0,0;Frameshift=.,no,no,no;Exon_count=.,3,1,11;Location=.,txStart-txEnd,txStart-txEnd,txStart-intron9;Location2=.,UTR,UTR,UTR;Dist_nearest_SS=.,.,.,82;Nearest_SS_type=.,.,.,5';Intersect_start=.,33571843,33966044,34264719;Intersect_end=.,33586742,33966140,34285848;po_P_gain_source=dbVar:nssv15158812|dbVar:nssv15148703|dbVar:nssv15150639|nssv15151292|dbVar:nssv15158813|dbVar:nssv15158224|dbVar:nssv16216874|dbVar:nssv15126545|dbVar:nssv15133058|dbVar:nssv15126469|dbVar:nssv15150356;po_P_gain_coord=16:61452-90294632|16:69194-90274381|16:85882-90155062|16:88166-90163275|16:88166-90274695|16:5805002-34230001|16:24381954-33923059|16:30703234-35147508|16:31986099-90294753|16:34197493-64509054;po_P_gain_percent=1.01|1.01|1.02|1.02|1.01|3.02|5.78|20.57|1.57|0.29;po_P_loss_source=dbVar:nssv15141243;po_P_loss_coord=16:28826163-34375007;po_P_loss_percent=16.48;B_gain_source=.,DDD:47058|DDD:47062|DDD:47114|DDD:47116|DDD:47126|DDD:47131|DDD:47136|dbVar|dgv50e203|dgv821e212|nsv514803,dgv50e203,TS40:ISCA-37481|dbVar|dgv51e203|nsv516385;B_gain_coord=.,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32511180-33912324|16:33230271-33739925|16:33270420-33827235|16:33302092-33630727|16:33473790-33628580|16:33526621-33659628|chr16:33549000-33642000|chr16:33551705-33589259|chr16:33551705-33589453|16:33560604-33662009|chr16:33561954-33589259|chr16:33566225-33589259|chr16:33569214-33589259,16:31749454-34012168,chr16:34189000-34557000|16:34197352-35283226|16:34202089-35147508|16:34259806-34805859;B_gain_AFmax=.,0.515,0.07,0.06;B_loss_source=.,DDD:47058|DDD:47062|DDD:47114|DDD:47126|dgv50e203,dgv50e203,HI40:ISCA-37481|dbVar;B_loss_coord=.,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33230271-33739925|16:33473790-33628580,16:31749454-34012168,chr16:34197000-34310700|chr16:34197000-34434000|16:34202089-35147508;B_loss_AFmax=.,0.1243,0.05,0.01;B_inv_source=IMH;B_inv_coord=16:24121264-80276578|16:29238285-88227116,16:24121264-80276578|16:29238285-88227116,16:24121264-80276578|16:29238285-88227116,16:24121264-80276578|16:29238285-88227116|16:34180655-46447887|16:34188883-46442460;B_inv_AFmax=0.4996;po_B_gain_someG_source=16:32055083-33851279_DDD:47058|16:32511180-33912324_dgv821e212|16:33230271-33739925_DDD:47114|16:33302092-33630727_nsv514803|chr16:33376000-33520200_dbVar|16:33406659-33406773_IMH|16:33446164-33480261_1000g|16:33446164-33480261_dgv510e214|chr16:33470755-33495606_dbVar|16:33470756-33495606_1000g|16:33473790-33628580_DDD:47126|16:33484522-33543753_1000g|16:33484522-33543753_dgv512e214|chr16:33491040-33525298_dbVar|chr16:33491040-33530645_dbVar|chr16:33524565-33570784_dbVar|16:33524566-33570784_1000g|chr16:33525298-33530645_dbVar|16:33526621-33659628_DDD:47131|chr16:33551705-33566225_dbVar...;po_B_gain_someG_coord=16:31749454-34012168_dgv50e203|16:32123333-33664028_DDD:47062|16:33204449-33378738_DDD:47113|16:33270420-33827235_DDD:47116|chr16:33342500-33372600_dbVar|16:33376004-33548487_DDD:47124|chr16:33446163-33480261_dbVar|16:33446164-33480261_1000g|16:33464249-33499453_DDD:47125|16:33470756-33495606_1000g|16:33470756-33495606_dgv511e214|chr16:33484521-33543753_dbVar|16:33484522-33543753_1000g|chr16:33487822-33530645_dbVar|chr16:33491040-33527971_dbVar|chr16:33491040-33566225_dbVar|16:33524566-33570784_1000g|16:33524566-33570784_dgv513e214|chr16:33525298-33566225_dbVar|chr16:33549000-33642000_dbVar...;po_B_loss_someG_source=16:32055083-33851279_DDD:47058|16:33204449-33378738_DDD:47113|chr16:33429584-33429643_dbVar|16:33433594-33433957_gnomAD-SV_v2.1_DEL_16_153879|chr16:33462282-33462339_dbVar|16:33464249-33499453_DDD:47125|chr16:33470755-33495606_dbVar|16:33473790-33628580_DDD:47126|16:33486471-33490892_DDD:47128|chr16:33524565-33570784_dbVar|16:33537417-33539750_esv2656732|chr16:33545163-33547147_dbVar|chr16:33559201-33559298_dbVar|chr16:33560642-33560933_dbVar|16:33582387-33629628_DDD:47138|16:33586836-33590310_1000g|chr16:33588532-33626594_dbVar|16:33589117-33599697_1000g|chr16:33597522-33597696_dbVar|16:33604896-33605259_gnomAD-SV_v2.1_DEL_16_153891...;po_B_loss_someG_coord=16:31749454-34012168_dgv50e203|16:32123333-33664028_DDD:47062|16:33230271-33739925_DDD:47114|chr16:33433594-33433957_dbVar|chr16:33446163-33480261_dbVar|16:33462282-33462339_gnomAD-SV_v2.1_DEL_16_153880|chr16:33467950-33468051_dbVar|chr16:33472157-33472229_dbVar|chr16:33484521-33543753_dbVar|chr16:33509280-33509607_dbVar|chr16:33529598-33529692_dbVar|chr16:33543857-33545591_dbVar|chr16:33556576-33556850_dbVar|16:33559201-33559298_gnomAD-SV_v2.1_DEL_16_153886|chr16:33564729-33565655_dbVar|chr16:33586835-33590310_dbVar|16:33586836-33590310_esv3638472|chr16:33589116-33599697_dbVar|16:33589117-33599697_esv3638477|chr16:33604896-33605259_dbVar...;Cosmic_ID=781016|913793|843787|1699997|2426917|2490784|1685031|659811|699973|670782|680374|660677|672361|684689|664618|671843|657664|681578|1023638|681053|673067|674709|646530|678393|702587|664135|663042|647522|653368|687753|685072|679826|676289|682295|659028|678813|676795|677228|668304|693340|690593|700712|655764|667457|669103|913541|669215|864084|751902|647806|864730|...;Cosmic_mut_typ=gain|loss;GC_content_left=0.43;GC_content_right=0.365;Repeat_coord_left=16:33371221-33371434;Repeat_type_left=AluSz6;SegDup_left=16:33241272-33372204|16:33325624-33372204|16:33330495-33372204|16:33330495-33372204|16:33342946-33372204|16:33353245-33373923|16:33355202-33372204|16:33363548-33517471;ENCODE_blacklist_left=16:32923001-33427100;ENCODE_blacklist_characteristics_left=High_Signal_Region;NCBI_gene_ID=.,104644205,113218496,102724928;AnnotSV_ranking_score=0;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2G_(cf_po_B_gain_someG_source,_+0.00)|2L_(CCNYL3,_+0.00)|3A_(3_genes,_+0.00)|5F_(+0.00);ACMG_class=3,full=3,full=3,full=3;END=34285848;SVLEN=914404 GT 1/. 16 34493207 . C . PASS AnnotSV_ID=16_34493207_34702366_DUP_1;SV_start=34493207;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=p11.2-p11.1;Gene_name=LINC01566;Closest_left=LOC112268173;Closest_right=FRG2DP;Gene_count=1;Tx=.,NR_027080;Tx_version=.,2;Tx_start=.,34597786;Tx_end=.,34626084;Overlapped_tx_length=.,28298;Overlapped_CDS_length=.,0;Overlapped_CDS_percent=.,0;Frameshift=.,no;Exon_count=.,7;Location=.,txStart-txEnd;Location2=.,UTR;Intersect_start=.,34597786;Intersect_end=.,34626084;po_P_gain_source=dbVar:nssv15158812|dbVar:nssv15148703|dbVar:nssv15150639|nssv15151292|dbVar:nssv15158813|dbVar:nssv15158224|dbVar:nssv15133058|dbVar:nssv15126469|dbVar:nssv15150356;po_P_gain_coord=16:61452-90294632|16:69194-90274381|16:85882-90155062|16:88166-90163275|16:88166-90274695|16:30703234-35147508|16:31986099-90294753|16:34197493-64509054;po_P_gain_percent=0.23|0.23|0.23|0.23|0.23|4.71|0.36|0.69;B_gain_source=1000g|DDD:47173|DDD:47179|TS40:ISCA-37481|dbVar|dgv117e55|dgv2962n100|dgv51e203|dgv824e212|esv2421698|esv3638500|gnomAD-SV_v2.1_DUP_16_42078|nsv514804|nsv516385,1000g|DDD:47173|DDD:47179|DDD:47183|TS40:ISCA-37481|dbVar|dgv117e55|dgv2962n100|dgv51e203|dgv824e212|esv2421698|esv3638500|gnomAD-SV_v2.1_DUP_16_42078|gnomAD-SV_v2.1_DUP_16_42081|nsv514804|nsv516385;B_gain_coord=16:34197352-35283226|16:34202089-35147508|16:34259806-34805859|16:34410570-34796531|16:34441796-34784591|16:34445084-34774280|16:34456525-34736855|chr16:34456676-34760206|chr16:34457085-34712399|16:34457086-34712399|16:34457086-34712399|chr16:34465000-34757000|16:34465000-34757000|16:34470705-34757071|16:34471852-34731191|16:34476781-34747070,16:34197352-35283226|16:34202089-35147508|16:34259806-34805859|16:34410570-34796531|16:34441796-34784591|16:34445084-34774280|16:34456525-34736855|chr16:34456676-34760206|chr16:34457085-34712399|16:34457086-34712399|16:34457086-34712399|chr16:34465000-34757000|16:34465000-34757000|16:34470705-34757071|16:34471852-34731191|16:34476781-34747070|16:34567146-34656231|chr16:34572795-34661165|16:34572795-34661165|chr16:34579398-34644534|chr16:34579398-34687954;B_gain_AFmax=0.1875;B_loss_source=HI40:ISCA-37481|dbVar;B_loss_coord=16:34202089-35147508|chr16:34457085-34712399;B_loss_AFmax=0.01;B_inv_source=IMH;B_inv_coord=16:24121264-80276578|16:29238285-88227116|16:34180655-46447887|16:34188883-46442460;B_inv_AFmax=0.4996;po_B_gain_someG_source=16:34197352-35283226_dgv51e203|16:34259806-34805859_nsv516385|16:34441796-34784591_dgv2962n100|16:34456525-34736855_DDD:47173|chr16:34457085-34712399_dbVar|16:34457086-34712399_esv3638500|16:34465000-34757000_gnomAD-SV_v2.1_DUP_16_42078|chr16:34468902-34546672_dbVar|16:34471852-34731191_nsv514804|chr16:34489945-34494742_dbVar|chr16:34500158-34528628_dbVar|chr16:34528628-34542969_dbVar|chr16:34542969-34544540_dbVar|chr16:34545266-34546672_dbVar|chr16:34546672-34548048_dbVar|chr16:34548048-34575188_dbVar|chr16:34548198-34564393_dbVar|chr16:34556315-34556698_dbVar|chr16:34565920-34575188_dbVar|chr16:34572795-34661165_dbVar...;po_B_gain_someG_coord=chr16:34189000-34557000_dbVar|16:34202089-35147508_TS40:ISCA-37481|16:34410570-34796531_dgv117e55|16:34445084-34774280_dgv824e212|chr16:34456676-34760206_dbVar|16:34457086-34712399_1000g|chr16:34465000-34757000_dbVar|chr16:34468902-34494742_dbVar|16:34470705-34757071_esv2421698|16:34476781-34747070_DDD:47179|chr16:34492359-34494742_dbVar|chr16:34507956-34508548_dbVar|chr16:34528628-34544148_dbVar|chr16:34544540-34545266_dbVar|chr16:34545866-34548048_dbVar|chr16:34548048-34548198_dbVar|chr16:34548198-34550637_dbVar|chr16:34552087-34564393_dbVar|chr16:34565920-34571271_dbVar|16:34567146-34656231_DDD:47183...;po_B_loss_someG_source=chr16:34457085-34712399_dbVar|chr16:34513700-34518239_dbVar|chr16:34521342-34521422_dbVar|chr16:34530127-34530478_dbVar|chr16:34539678-34540320_dbVar|chr16:34563433-34571562_dbVar|chr16:34590029-34590133_dbVar|chr16:34590961-34591436_dbVar|chr16:34604209-34604282_dbVar|chr16:34659877-34659999_dbVar|chr16:34666766-34667080_dbVar|chr16:34687510-34703789_dbVar;po_B_loss_someG_coord=16:34202089-35147508_HI40:ISCA-37481|chr16:34502223-34502386_dbVar|chr16:34515750-34515813_dbVar|chr16:34530038-34530588_dbVar|chr16:34539652-34540292_dbVar|16:34539693-34540322_DDD:47181|chr16:34568138-34568693_dbVar|chr16:34590565-34590648_dbVar|chr16:34600723-34610152_dbVar|chr16:34655648-34655724_dbVar|chr16:34664288-34664480_dbVar|chr16:34684662-34685228_dbVar;GC_content_left=0.385;GC_content_right=0.335;NCBI_gene_ID=.,283914;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=1,full=1;END=34702366;SVLEN=209159 GT 1/. -17 14100119 . T . PASS AnnotSV_ID=17_14100119_15442066_DUP_1;SV_start=14100119;Biologist_annotation=PMP22_(CMT1A);Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p12;Gene_name=COX10|CDRT15|HS3ST3B1|MGC12916|CDRT7|LOC101928475|CDRT8|PMP22|MIR4731|TEKT3|CDRT4|TVP23C-CDRT4|CDRT3|TVP23C,COX10,CDRT15,HS3ST3B1,MGC12916,CDRT7,LOC101928475,CDRT8,PMP22,MIR4731,TEKT3,CDRT4,TVP23C-CDRT4,CDRT3,TVP23C;Closest_left=COX10-DT;Closest_right=FBXW10B;Gene_count=14;Tx=.,NM_001303,NM_001007530,NM_006041,NR_026880,NR_033371,NR_135638,NR_103559,NM_000304,NR_039884,NM_031898,NM_001204477,NM_001204478,NR_146601,NM_145301;Tx_version=.,4,3,3,1,1,1,1,4,1,3,2,2,1,3;Tx_start=.,13972820,14138989,14204397,14207056,14934291,14954671,15008301,15133095,15154943,15207128,15339331,15339331,15373624,15405577;Tx_end=.,14111994,14140179,14252721,14209062,14935274,14955593,15009504,15168643,15155013,15244914,15370935,15466797,15374150,15466797;Overlapped_tx_length=.,11876,1190,48324,2006,983,922,1203,35548,70,37786,31604,102735,526,36489;Overlapped_CDS_length=.,404,567,1173,0,0,0,0,483,0,1473,459,33,0,369;Overlapped_CDS_percent=.,30,100,100,0,0,0,0,100,0,100,100,6,0,44;Frameshift=.,yes,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,7,3,2,1,3,1,2,5,1,9,4,7,1,6;Location=.,intron6-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,intron5-txEnd,txStart-txEnd,intron5-txEnd;Location2=.,CDS-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,CDS-3'UTR,UTR,CDS-3'UTR;Dist_nearest_SS=.,4580,.,.,.,.,.,.,.,.,.,.,7032,.,7032;Nearest_SS_type=.,5',.,.,.,.,.,.,.,.,.,.,5',.,5';Intersect_start=.,14100118,14138989,14204397,14207056,14934291,14954671,15008301,15133095,15154943,15207128,15339331,15339331,15373624,15405577;Intersect_end=.,14111994,14140179,14252721,14209062,14935274,14955593,15009504,15168643,15155013,15244914,15370935,15442066,15374150,15442066;RE_gene=ABCG8_(morbid/RE=mTL_miRNA)|ACBD5_(morbid/RE=mTL_miRNA)|ACVRL1_(HI=3/morbid/RE=mTL_miRNA)|AMH_(morbid/RE=mTL_miRNA)|ANKS6_(morbid/RE=mTL_miRNA)|ATL3_(morbid/RE=mTL_miRNA)|ATP9A_(morbid/RE=mTL_miRNA)|CABP4_(morbid/RE=mTL_miRNA)|CACNA1C_(morbid/RE=mTL_miRNA)|CACNA2D1_(morbid/RE=mTL_miRNA)|CAVIN1_(morbid/RE=mTL_miRNA)|CD4_(morbid/RE=mTL_miRNA)|CDKN1A_(morbid/RE=mTL_miRNA)|CDT1_(morbid/RE=mTL_miRNA)|CEP104_(morbid/RE=mTL_miRNA)|CHD7_(HI=3/morbid/RE=mTL_miRNA)|CHEK1_(morbid/RE=mTL_miRNA)|CHST6_(morbid/RE=mTL_miRNA)|CISD2_(morbid/RE=mTL_miRNA)|CPT1A_(morbid/RE=mTL_miRNA)|CRCP_(morbid/RE=mTL_miRNA)|CREB1_(morbid/RE=mTL_miRNA)|CRIPT_(morbid/RE=mTL_miRNA)|CYB5A_(morbid/RE=mTL_miRNA)|CYCS_(morbid/RE=mTL_miRNA)|DIDO1_(morbid/RE=mTL_miRNA)|DNAJB13_(morbid/RE=mTL_miRNA)|DNAJB4_(morbid/RE=mTL_miRNA)|DNAL1_(morbid/RE=mTL_miRNA)|DPP9_(morbid/RE=mTL_miRNA)|EIF2B2_(morbid/RE=mTL_miRNA)|ELAC2_(morbid/RE=ABC_enhancer)|EMC1_(morbid/RE=mTL_miRNA)|F2RL1_(morbid/RE=mTL_miRNA)|FANCA_(morbid/RE=mTL_miRNA)|GAN_(morbid/RE=mTL_miRNA)|GATAD2B_(HI=3/morbid/RE=mTL_miRNA)|GNB5_(morbid/RE=mTL_miRNA)|GOLGA2_(morbid/RE=mTL_miRNA)|GPRC5B_(morbid/RE=mTL_miRNA)|HCFC1_(morbid/RE=mTL_miRNA)|HCN4_(morbid/RE=mTL_miRNA)|HFE_(morbid/RE=mTL_miRNA)|IKBKG_(HI=3/morbid/RE=mTL_miRNA)|IRAK4_(morbid/RE=mTL_miRNA)|ISCA2_(morbid/RE=mTL_miRNA)|KCND3_(morbid/RE=mTL_miRNA)|KCNH2_(HI=3/morbid/RE=mTL_miRNA)|KDM6B_(morbid/RE=mTL_miRNA)|KIAA1549_(morbid/RE=mTL_miRNA)...;P_gain_source=dbVar:nssv15123319|nssv18792872|dbVar:nssv15123460|dbVar:nssv15124534|dbVar:nssv15130870|dbVar:nssv15132574|nssv15139980|nssv16091758|dbVar:nssv15143888|dbVar:nssv15144711|dbVar:nssv15605910|dbVar:nssv15770494|dbVar:nssv15770609|dbVar:nssv15770794|dbVar:nssv16216948|dbVar:nssv17171394|dbVar:nssv17171395|dbVar:nssv17171396|dbVar:nssv17517518|dbVar:nssv17968761|dbVar:nssv17971796|dbVar:nssv18788963,.,.,.,.,.,.,.,dbVar:nssv15130870|dbVar:nssv15770494|dbVar:nssv15770609|dbVar:nssv15770794|dbVar:nssv17171395|dbVar:nssv17171396|dbVar:nssv17517518|dbVar:nssv17971796|dbVar:nssv18788963,.,.,.,.,.,.;P_gain_coord=17:14104013-15422557|17:14111773-15442066|17:14139890-15406546|17:14413313-15169915|17:15036413-15036413|17:15132095-15169674|17:15133085-15164054|17:15133095-15164078|17:15133097-15165152|17:15133098-15164054|17:15133961-15169915|17:15134215-15162530|17:15134215-15164064|17:15134229-15164050|17:15134234-15164044|17:15134235-15164044|17:15142769-15164064|17:15142779-15164054|17:15162412-15406546,.,.,.,.,.,.,.,17:15133097-15165152|17:15133098-15164054|17:15134215-15162530|17:15134215-15164064|17:15134229-15164050|17:15134234-15164044|17:15134235-15164044|17:15142769-15164064|17:15142779-15164054,.,.,.,.,.,.;P_loss_phen=?Neuropathy,_inflammatory_demyelinating,_139393_(3)_?AD|Charcot-Marie-Tooth_disease,_type_1A,_118220_(3)_AD|Charcot-Marie-Tooth_disease,_type_1E,_118300_(3)_AD|Dejerine-Sottas_disease,_145900_(3)_AR,AD|Neuropathy,_recurrent,_with_pressure_palsies,_162500_(3)_AD|Roussy-Levy_syndrome,_180800_(3)_AD|Spermatogenic_failure_81,_620277_(3)_AR,.,.,.,.,.,.,.,?Neuropathy,_inflammatory_demyelinating,_139393_(3)_?AD|Charcot-Marie-Tooth_disease,_type_1A,_118220_(3)_AD|Charcot-Marie-Tooth_disease,_type_1E,_118300_(3)_AD|Dejerine-Sottas_disease,_145900_(3)_AR,AD|Neuropathy,_recurrent,_with_pressure_palsies,_162500_(3)_AD|Roussy-Levy_syndrome,_180800_(3)_AD,.,Spermatogenic_failure_81,_620277_(3)_AR,.,.,.,.;P_loss_source=HI3:PMP22|dbVar:nssv15119700|nssv15120161|dbVar:nssv15123358|dbVar:nssv15124100|dbVar:nssv15124536|dbVar:nssv15130148|nssv15131578|dbVar:nssv15131641|dbVar:nssv15132056|dbVar:nssv15133540|dbVar:nssv15152434|dbVar:nssv15605873|dbVar:nssv15770639|dbVar:nssv16212046|dbVar:nssv16213644|dbVar:nssv17171685|dbVar:nssv17171686|dbVar:nssv17171687|dbVar:nssv17517519|dbVar:nssv17968760|dbVar:nssv17971249|dbVar:nssv17971279|dbVar:nssv17972656|dbVar:nssv17974454|dbVar:nssv17974892|dbVar:nssv18788962|morbid:PMP22|morbid:TEKT3,dbVar:nssv15124536,.,.,.,.,.,.,dbVar:nssv15119700|nssv15120161|dbVar:nssv15131641|dbVar:nssv15133540|dbVar:nssv15770639|dbVar:nssv16212046|dbVar:nssv17171685|dbVar:nssv17171686|dbVar:nssv17171687|dbVar:nssv17517519|dbVar:nssv17968760|dbVar:nssv17971279|dbVar:nssv17974892|dbVar:nssv18788962|morbid:PMP22,.,morbid:TEKT3,.,.,.,.;P_loss_coord=17:14110044-14111913|17:14111773-15442066|17:14128551-15422557|17:14139890-15142928|17:14215740-15422582|17:14763747-15242181|17:15133085-15134407|17:15133085-15142938|17:15133085-15164054|17:15133095-15164078|17:15133095-15168690|17:15133098-15164054|17:15133961-15169915|17:15134215-15164064|17:15134234-15164044|17:15134235-15164044|17:15138536-15168643|17:15142769-15142948|17:15142779-15142938|17:15142779-15164054|17:15142930-15164044|17:15152792-15162532|17:15162392-15164044|17:15162402-15162520|17:15162402-15162523|17:15162402-15164054|17:15207129-15244914,17:14110044-14111913,.,.,.,.,.,.,17:15133098-15164054|17:15134215-15164064|17:15134234-15164044|17:15134235-15164044|17:15138536-15168643|17:15142769-15142948|17:15142779-15142938|17:15142779-15164054|17:15142930-15164044|17:15152792-15162532|17:15162392-15164044|17:15162402-15162520|17:15162402-15162523|17:15162402-15164054,.,17:15207129-15244914,.,.,.,.;po_P_gain_phen=17p12_recurrent_(HNPP/CMT1A)_region_(includes_PMP22);po_P_gain_source=dbVar:nssv15148946|dbVar:nssv15150353|dbVar:nssv15149908|nssv15152170|dbVar:nssv15159024|dbVar:nssv15160732|dbVar:nssv15159027|dbVar:nssv15121114|dbVar:nssv17976715|dbVar:nssv15133502|dbVar:nssv15605908|dbVar:nssv17955950|dbVar:nssv18330199|dbVar:nssv15127850|dbVar:nssv15155527|dbVar:nssv18330563|dbVar:nssv16215327|dbVar:nssv15152221|dbVar:nssv15155528|dbVar:nssv15152212|dbVar:nssv15151828|dbVar:nssv15138362|dbVar:nssv18330766|dbVar:nssv15152433|dbVar:nssv15141972|dbVar:nssv15137438|dbVar:nssv15138198|dbVar:nssv15151261|dbVar:nssv15152245|dbVar:nssv15139258|nssv15130449|dbVar:nssv18329572|dbVar:nssv18330190|dbVar:nssv18330250|dbVar:nssv18329615|dbVar:nssv15133504|dbVar:nssv15138548|dbVar:nssv15133503|dbVar:nssv17976450|dbVar:nssv18842067|dbVar:nssv18792739|dbVar:nssv18792799|dbVar:nssv17955866|TS3:ISCA-37436|dbVar:nssv17649964|dbVar:nssv15123339|dbVar:nssv15141042|dbVar:nssv15122626|dbVar:nssv16867389|dbVar:nssv15140957|dbVar:nssv15141757|dbVar:nssv15123522|dbVar:nssv15159072|dbVar:nssv15605912|dbVar:nssv15137903|dbVar:nssv15123444|dbVar:nssv16207305|dbVar:nssv15136705|dbVar:nssv15134920|dbVar:nssv15132415|dbVar:nssv15133505;po_P_gain_coord=17:526-14667519|17:526-15027737|17:527-81041938|17:7215-81058310|17:8548-81060040|17:12345-81057996|17:10795577-17867596|17:11819315-17795978|17:14029614-15562901|17:14063252-15449627|17:14073285-15442296|17:14073564-15479923|17:14073604-15482773|17:14076431-15491532|17:14078284-15479940|17:14079631-15370444|17:14083055-15463054|17:14083055-15479940|17:14083055-15491532|17:14083055-15491533|17:14083055-15567669|17:14083056-15483608|17:14085653-15512120|17:14087934-15437330|17:14087934-15484358|17:14087934-15484858|17:14087934-15490100|17:14087934-15491532|17:14087934-15500645|17:14087935-15479940|17:14087935-15483608|17:14087935-15484358|17:14087935-15484630|17:14090301-15467184|17:14090301-15473590|17:14090301-15482240|17:14093319-15476314|17:14095257-15492591|17:14095307-15466762|17:14095307-15472344|17:14096090-15492591|17:14097916-15422952|17:14098197-15442500|17:14098278-15471179|17:14098661-15501133|17:14099743-15471179|17:14100119-15455297|17:14100119-15458649|17:14100119-15492400|17:14100119-15492444|17:14101030-15504740|17:14105875-15611546|17:14111773-15482872|17:14139858-15707850|17:14195643-15545880|17:15093601-15856310|17:15113718-18184130|17:15138003-20524013|17:15162482-20828612;po_P_gain_percent=3.87|6.17|1.66|1.66|1.66|1.66|18.98|22.45|87.52|96.80|98.02|95.42|95.23|94.83|95.74|98.41|97.24|96.07|95.28|95.28|90.39|95.82|94.07|99.10|96.10|96.06|95.71|95.61|94.99|96.40|96.15|96.10|96.08|97.46|97.01|96.41|97.03|96.04|97.85|97.45|96.09|99.83|99.82|97.75|95.68|97.85|99.02|98.78|96.38|96.38|95.54|88.74|97.02|83.05|92.31|45.69|10.69|5.65|4.93;po_P_loss_phen=17p12_recurrent_(HNPP/CMT1A)_region_(includes_PMP22)|Mitochondrial_complex_IV_deficiency,_nuclear_type_3,_619046_(3)_AR;po_P_loss_source=morbid:COX10|dbVar:nssv15129689|dbVar:nssv17976967|dbVar:nssv18330114|dbVar:nssv15145216|dbVar:nssv18330761|dbVar:nssv15138335|dbVar:nssv18330252|dbVar:nssv15145035|dbVar:nssv15141682|dbVar:nssv15141099|dbVar:nssv15138794|dbVar:nssv18330872|dbVar:nssv15137498|nssv15155529|dbVar:nssv15137504|dbVar:nssv18330269|dbVar:nssv18842062|dbVar:nssv15141647|HI3:ISCA-37436|dbVar:nssv18330706|dbVar:nssv15150275|dbVar:nssv15129116|dbVar:nssv15123772|dbVar:nssv15141918|dbVar:nssv15159071|nssv15605909|dbVar:nssv15123331|dbVar:nssv15605911|dbVar:nssv18786371|dbVar:nssv15605913|dbVar:nssv16255829|dbVar:nssv15136096|dbVar:nssv15136245|dbVar:nssv15126994|dbVar:nssv15134560|dbVar:nssv15137984;po_P_loss_coord=17:13972821-14111994|17:14073604-15482773|17:14076990-15473312|17:14077820-15491532|17:14082226-15421861|17:14082946-15484858|17:14083055-15475087|17:14083056-15484859|17:14086859-15476561|17:14087788-15473312|17:14087788-15483608|17:14087788-15490100|17:14087789-15484858|17:14087934-15484858|17:14087934-15491532|17:14087935-15491532|17:14095257-15477547|17:14095640-15274712|17:14097916-15422952|17:14098248-15475654|17:14098661-15500645|17:14098787-15495266|17:14099743-15471179|17:14100119-15455238|17:14101030-15449627|17:14101030-15482817|17:14104013-15551814|17:14110128-15472344|17:14110452-15449097|17:14111755-15442178|17:14111773-15482872|17:14111773-15491748|17:14112032-15482773|17:14574436-15856310|17:14970117-17375771;po_P_loss_percent=8.53|95.23|96.11|94.92|98.66|95.72|96.40|95.73|96.56|96.85|96.14|95.70|96.05|96.06|95.61|95.61|97.08|99.62|99.83|97.43|95.72|96.10|97.85|99.03|99.44|97.05|92.42|97.78|99.47|99.99|97.02|96.40|97.03|67.68|19.62;P_snvindel_nb=52,1,.,.,.,.,.,.,51,.,.,.,.,.,.;P_snvindel_phen=Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease,_type_I|Charcot-Marie-Tooth_disease,_type_IA|Charcot-Marie-Tooth_disease_type_1E|Charcot-Marie-Tooth_disease_type_2E|Cytochrome-c_oxidase_deficiency_disease|Dejerine-Sottas_disease|Dejerine-Sottas_syndrome,_autosomal_dominant|Hereditary_liability_to_pressure_palsies|Inborn_genetic_diseases|Mitochondrial_complex_4_deficiency,_nuclear_type_3|Roussy-Lévy_syndrome,Cytochrome-c_oxidase_deficiency_disease|Mitochondrial_complex_4_deficiency,_nuclear_type_3,.,.,.,.,.,.,Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease,_type_I|Charcot-Marie-Tooth_disease,_type_IA|Charcot-Marie-Tooth_disease_type_1E|Charcot-Marie-Tooth_disease_type_2E|Dejerine-Sottas_disease|Dejerine-Sottas_syndrome,_autosomal_dominant|Hereditary_liability_to_pressure_palsies|Inborn_genetic_diseases|Roussy-Lévy_syndrome,.,.,.,.,.,.;B_gain_source=dbVar,dbVar,dbVar,dbVar,dbVar,1000g|dbVar|esv3640046,1000g|dbVar|esv3640046,1000g|dbVar|esv3640046,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar;B_gain_coord=chr17:14096997-15486650,chr17:14096997-15486650,chr17:14096997-15486650|chr17:14126839-14220873,chr17:14096997-15486650,chr17:14096997-15486650|chr17:14126839-14220873,chr17:14096997-15486650|chr17:14668589-15084842|17:14668590-15084842|17:14668590-15084842,chr17:14096997-15486650|chr17:14668589-15084842|17:14668590-15084842|17:14668590-15084842,chr17:14096997-15486650|chr17:14668589-15084842|17:14668590-15084842|17:14668590-15084842,chr17:14096997-15486650,chr17:14096997-15486650|chr17:15133798-15197525,chr17:14096997-15486650,chr17:14096997-15486650|chr17:15287341-15482010,chr17:14096997-15486650|chr17:15287341-15482010,chr17:14096997-15486650|chr17:15287341-15482010,chr17:14096997-15486650|chr17:15287341-15482010;B_gain_AFmax=0.01,0.01,0.01,0.01,0.01,0.272,0.272,0.272,0.01,0.01,0.01,0.01,0.01,0.01,0.01;B_loss_source=dbVar;B_loss_coord=chr17:14093499-15486000,chr17:14093499-15486000,chr17:14093499-15486000|chr17:14126839-14220873,chr17:14093499-15486000,chr17:14093499-15486000|chr17:14126839-14220873,chr17:14093499-15486000|chr17:14668589-15084842|chr17:14920183-14938805|chr17:14931264-14977742,chr17:14093499-15486000|chr17:14668589-15084842|chr17:14931264-14977742,chr17:14093499-15486000|chr17:14668589-15084842|chr17:14995672-15057656|chr17:14995771-15057475,chr17:14093499-15486000,chr17:14093499-15486000|chr17:15070858-15163533|chr17:15112458-15159531|chr17:15150741-15155583,chr17:14093499-15486000,chr17:14093499-15486000|chr17:15287341-15482010,chr17:14093499-15486000|chr17:15287341-15482010,chr17:14093499-15486000|chr17:15287341-15482010,chr17:14093499-15486000|chr17:15287341-15482010;B_loss_AFmax=0.01;po_B_gain_someG_source=chr17:14126839-14220873_dbVar|17:14191081-14191901_DDD:48801|chr17:14194000-14199000_dbVar|chr17:14224374-14483419_dbVar|17:14224375-14483419_esv3640026|chr17:14256910-14257055_dbVar|chr17:14298872-14298951_dbVar|chr17:14334186-14339815_dbVar|chr17:14447875-14456539_dbVar|chr17:14668589-15084842_dbVar|17:14668590-15084842_esv3640046|chr17:14685229-14700196_dbVar|chr17:15028960-15030846_dbVar|chr17:15133798-15197525_dbVar|chr17:15287341-15482010_dbVar|chr17:15332787-15332860_dbVar|;po_B_gain_someG_coord=chr17:14096997-15486650_dbVar|chr17:14159542-14160385_dbVar|17:14191081-14198547_DDD:48802|chr17:14216314-14217439_dbVar|17:14224375-14483419_1000g|chr17:14241867-14248195_dbVar|chr17:14284612-14628667_dbVar|chr17:14300914-14367997_dbVar|chr17:14386097-14390355_dbVar|chr17:14489639-14632921_dbVar|17:14668590-15084842_1000g|chr17:14670267-14671370_dbVar|chr17:14767901-14773352_dbVar|chr17:15118923-15125291_dbVar|chr17:15151620-15151916_dbVar|chr17:15323152-15369177_dbVar|chr17:15439000-15444000_dbVar;po_B_loss_someG_source=chr17:14096682-14108514_dbVar|chr17:14126839-14220873_dbVar|chr17:14155625-14155942_dbVar|chr17:14189910-14191555_dbVar|17:14189911-14191555_DDD:48799|17:14189911-14191555_esv2665541|17:14189911-14191557_1000g|17:14189912-14191555_IMH|17:14191081-14191901_DDD:48801|chr17:14220258-14221199_dbVar|17:14240918-14242023_DDD:48803|17:14240923-14242032_1000g|17:14240941-14242023_IMH|chr17:14241867-14248195_dbVar|chr17:14269249-14271950_dbVar|chr17:14277792-14278679_dbVar|chr17:14300414-14308117_dbVar|chr17:14314642-14320048_dbVar|chr17:14315900-14328444_dbVar|17:14332272-14332576_gnomAD-SV_v2.1_DEL_17_158748...;po_B_loss_someG_coord=chr17:14093499-15486000_dbVar|chr17:14105499-14108091_dbVar|chr17:14132469-14133456_dbVar|chr17:14186324-14196555_dbVar|chr17:14189910-14191557_dbVar|chr17:14189911-14191555_dbVar|17:14189911-14191555_gnomAD-SV_v2.1_DEL_17_158736|17:14189911-14191557_esv3640023|17:14190834-14191460_nsv574421|chr17:14210420-14210623_dbVar|chr17:14224374-14483419_dbVar|chr17:14240922-14242032_dbVar|17:14240923-14242032_esv3640027|chr17:14240941-14242023_dbVar|chr17:14256280-14258428_dbVar|chr17:14272755-14288592_dbVar|chr17:14284612-14628667_dbVar|chr17:14300914-14367997_dbVar|chr17:14314678-14320063_dbVar|chr17:14332272-14332576_dbVar...;Cosmic_ID=557088|527329|960663|960664|271780|2830900|301045|262086|573463|591221|586955|271781|581715|527330|468582|482431|573464|531792|306277|570216|937731|271782|162997|826587|816488|787511|784668|811329|831423|864749|823089|2560430|815034|813495|809567|835854|40950|162998|288724|470190|429012|345937|271783|304081|826588|59114|782435|984637|470191|429013|1070158|...,.,.,288724|470190|429012|271783|1070158,.,.,.,.,740803|342512,.,740806|740807|740808|54646|740809|740810,.,323831|1950846|1878175|1562489|1993654|39252,.,.;Cosmic_mut_typ=loss|gain,.,.,loss|gain,.,.,.,.,loss|gain,.,loss|gain,.,loss|gain,.,.;GC_content_left=0.505;GC_content_right=0.42;SegDup_right=17:15422954-15470900;HI=3,30,.,.,.,.,.,.,3,.,.,.,.,.,.;TS=.,.,.,.,.,.,.,.,0,.,.,.,.,.,.;DDD_HI_percent=96.58,60.22,96.58,42.95,.,.,.,.,40.48,.,59.06,86.77,52.33,.,49.2;ExAC_delZ=-2.62354415217069,-2.62354415217069,-2.62354415217069,-2.62354415217069,.,.,.,.,-2.62354415217069,.,-2.62354415217069,-2.62354415217069,-2.62354415217069,.,-2.62354415217069;ExAC_dupZ=-0.276965016632095,-2.20885612270982,-2.20416703243077,-0.276965016632095,.,.,.,.,-1.55852578268999,.,-1.25885348060374,-2.24141606178004,-2.53125239294469,.,-2.53125239294469;ExAC_cnvZ=-1.64032033771268,-2.47162789907313,-2.47162789907313,-1.64032033771268,.,.,.,.,-2.47162789907313,.,-2.47162789907313,-2.47162789907313,-2.47162789907313,.,-2.47162789907313;ExAC_synZ=3.6772325764896,0.16322796385632,1.67462394349301,3.6772325764896,.,.,.,.,-0.424806725478425,.,0.241972873531725,-0.193191475026352,0.433099426603836,.,0.622094281610252;ExAC_misZ=4.17517843763452,0.511864222455301,1.73432863871862,4.17517843763452,.,.,.,.,1.07197498670855,.,-0.405588628410555,0.152950560142403,0.962176598220999,.,0.322678575541803;GenCC_disease=.,Leigh_syndrome|cytochrome-c_oxidase_deficiency_disease|mitochondrial_complex_4_deficiency,_nuclear_type_3,.,.,.,.,.,.,Charcot-Marie-Tooth_disease_type_1A|Charcot-Marie-Tooth_disease_type_1E|Charcot-Marie-Tooth_disease_type_3|hereditary_neuropathy_with_liability_to_pressure_palsies,.,spermatogenic_failure_81,.,.,.,.;GenCC_moi=.,AR,.,.,.,.,.,.,AD,.,.,.,.,.,.;GenCC_classification=.,Definitive|Moderate|Strong|Supportive,.,.,.,.,.,.,Definitive|Moderate|Strong|Supportive,.,Limited,.,.,.,.;GenCC_pmid=.,10767350|10767350[PMID]_12928484[PMID]_15455402[PMID]|12928484|15455402|16103131|22622581|24100867,.,.,.,.,.,.,10330345|118220|12578939|162500|18698610[PMID]_12090401[PMID]|20301384[PMID]|23224996|24175617|601097|7931393|8355122|9143558|NULL,.,18951373|36708031,.,.,.,.;NCBI_gene_ID=.,1352,146822,9953,.,94150,.,94151,5376,100616125,64518,284040,100533496,94145,201158;OMIM_ID=602125|601097|612683,602125,.,.,.,.,.,.,601097,.,612683,.,.,.,.;OMIM_phenotype=.,Mitochondrial_complex_IV_deficiency,_nuclear_type_3,_619046_(3)_AR,.,.,.,.,.,.,?Neuropathy,_inflammatory_demyelinating,_139393_(3)_?AD|Charcot-Marie-Tooth_disease,_type_1A,_118220_(3)_AD|Charcot-Marie-Tooth_disease,_type_1E,_118300_(3)_AD|Dejerine-Sottas_disease,_145900_(3)_AD,AR|Neuropathy,_recurrent,_with_pressure_palsies,_162500_(3)_AD|Roussy-Levy_syndrome,_180800_(3)_AD,.,Spermatogenic_failure_81,_620277_(3)_AR,.,.,.,.;OMIM_inheritance=.,AR,.,.,.,.,.,.,?AD|AD|AD,AR,.,AR,.,.,.,.;OMIM_morbid=yes,yes,.,.,.,.,.,.,yes,.,yes,.,.,.,.;OMIM_morbid_candidate=yes,.,.,.,.,.,.,.,yes,.,.,.,.,.,.;LOEUF_bin=1,3,9,4,.,.,.,.,1,.,7,9,7,.,7;GnomAD_pLI=0.90958,0.08405,1.282e-06,0.29349,.,.,.,.,0.90958,.,1.9845e-17,0.095789,8.7378e-07,.,2.3189e-05;ExAC_pLI=0.83315,0.64657,0.0075064,0.085455,.,.,.,.,0.83315,.,3.1995e-14,0.24429,0.0023623,.,0.00013674;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_gain_source,_+1.00)|2H-2_(PMP22/TEKT3,_+0.00)|2J_(COX10,_+0.00)|2L_(TVP23C/TVP23C-CDRT4,_+0.00)|3A_(14_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=15442066;SVLEN=1341947 GT 1/. -17 34437476 . T . PASS AnnotSV_ID=17_34437476_34817481_DUP_1;SV_start=34437476;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split;CytoBand=q12;Gene_name=TBC1D3B|CCL3L3|CCL4L2|TBC1D3I|CCL3L1|TBC1D3H|TBC1D3F,TBC1D3B,CCL3L3,CCL4L2,TBC1D3I,CCL3L1,TBC1D3H,TBC1D3F;Closest_left=CCL4;Closest_right=ZNHIT3;Gene_count=7;Tx=.,NM_001001417,NM_001001437,NM_001291471,NM_001291463,NM_021006,NM_001123392,NM_032258;Tx_version=.,7,4,2,2,5,4,5;Tx_start=.,34493062,34522267,34538464,34581084,34623841,34746118,34797171;Tx_end=.,34503996,34524157,34540275,34592039,34625731,34757005,34808058;Overlapped_tx_length=.,10934,1890,1811,10955,1890,10887,10887;Overlapped_CDS_length=.,1650,282,312,1650,282,1650,1650;Overlapped_CDS_percent=.,100,100,100,100,100,100,100;Frameshift=.,no,no,no,no,no,no,no;Exon_count=.,14,3,3,14,3,14,14;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR;Intersect_start=.,34493062,34522267,34538464,34581084,34623841,34746118,34797171;Intersect_end=.,34503996,34524157,34540275,34592039,34625731,34757005,34808058;RE_gene=CCL14_(morbid/RE=ABC_enhancer)|PEX12_(morbid/RE=GH_enhancer)|PIGW_(morbid/RE=EA_enhancer)|ZNHIT3_(morbid/RE=ABC_enhancer+GH_enhancer);po_P_gain_phen=17q12_recurrent_(RCAD_syndrome)_region_(includes_HNF1B);po_P_gain_source=dbVar:nssv15149908|nssv15152170|dbVar:nssv15159024|dbVar:nssv15160732|dbVar:nssv15159027|dbVar:nssv15127236|dbVar:nssv15775117|dbVar:nssv15132421|dbVar:nssv15132422|dbVar:nssv15155541|dbVar:nssv18330713|dbVar:nssv15155542|dbVar:nssv15605916|dbVar:nssv16736632|dbVar:nssv15138685|dbVar:nssv15142873|dbVar:nssv15141421|dbVar:nssv15132229|nssv15139703|dbVar:nssv15125411|dbVar:nssv15125622|dbVar:nssv15130152|nssv15132345|nssv15139691|dbVar:nssv15135915|dbVar:nssv15124805|dbVar:nssv18842005|TS3:ISCA-37432|dbVar:nssv15132164|dbVar:nssv17649867|dbVar:nssv16215252|dbVar:nssv15123756|dbVar:nssv15133519|dbVar:nssv16736603|dbVar:nssv15135870;po_P_gain_coord=17:527-81041938|17:7215-81058310|17:8548-81060040|17:12345-81057996|17:16757564-81048189|17:21690654-38772647|17:34310999-36297053|17:34360169-36209228|17:34425363-36283612|17:34425364-36404555|17:34426245-36225988|17:34437476-36214026|17:34437476-36243028|17:34437483-36244358|17:34437483-36350584|17:34437483-36404555|17:34508118-36248918|17:34526602-36188734|17:34604365-36231917|17:34611353-36248918|17:34611353-36263019|17:34750819-36354738|17:34752222-36105007|17:34815073-36192489|17:34815185-36209228|17:34815467-36249366|17:34815552-36244358|17:34815552-36249800|17:34817423-36173763|17:34817423-36243028|17:34817423-36248918;po_P_gain_percent=0.47|0.47|0.47|0.47|0.59|2.22|19.13|20.55|20.45|19.20|21.11|21.39|21.05|21.03|19.86|19.32|17.77|17.50|13.09|12.59|12.48|4.16|4.82|0.17|0.16|0.14|0.14|0.13|0.00|0.00|0.00;po_P_loss_phen=17q12_recurrent_(RCAD_syndrome)_region_(includes_HNF1B);po_P_loss_source=dbVar:nssv18830976|dbVar:nssv15137372|dbVar:nssv8639331|dbVar:nssv15142228|dbVar:nssv15133035|dbVar:nssv17976904|dbVar:nssv15142015|dbVar:nssv15153182|dbVar:nssv15153183|dbVar:nssv15133261|dbVar:nssv15124226|dbVar:nssv15132100|nssv15139544|dbVar:nssv15127168|dbVar:nssv15133024|dbVar:nssv17955818|HI3:ISCA-37432|dbVar:nssv15149164|dbVar:nssv15129143|dbVar:nssv15130784|nssv15172799|dbVar:nssv15173493|dbVar:nssv15131818|dbVar:nssv15135737|dbVar:nssv15135591|dbVar:nssv15134619;po_P_loss_coord=17:30572863-35843988|17:34360169-36248859|17:34360228-36473024|17:34447114-36283612|17:34450406-36248918|17:34463924-36410559|17:34475680-36283612|17:34475680-36311009|17:34477386-36404555|17:34508118-36173763|17:34604365-36188734|17:34611353-36248918|17:34750819-81048189|17:34768967-36263019|17:34807070-36284994|17:34815073-36192489|17:34815073-36192492|17:34815552-36208392|17:34815552-36244358|17:34815552-36307189|17:34817423-36168104|17:34817423-36188700|17:34817423-36248918|17:34817423-36263019;po_P_loss_percent=7.21|20.12|17.99|20.17|20.41|18.16|18.91|18.62|17.65|18.57|13.45|12.59|0.14|3.25|0.70|0.17|0.17|0.14|0.14|0.13|0.00|0.00|0.00|0.00;B_gain_source=dgv122e55,DDD:49237|DDD:49240|DDD:49243|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388,DDD:49237|DDD:49240|DDD:49243|DDD:49256|TS40:ISCA-46706|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388|nsv514837,DDD:49237|DDD:49240|DDD:49256|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388,DDD:49237|DDD:49240|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388,DDD:49240|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388|nsv514839,DDD:49240|dbVar|dgv122e55,dbVar|dgv122e55;B_gain_coord=17:34426246-34870708,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34435674-34621060|17:34436438-34780239|chr17:34438389-34594251|chr17:34438389-34666383|17:34443777-34537005|chr17:34480907-34594251|chr17:34480907-34674805,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34435674-34621060|17:34436438-34780239|chr17:34438389-34594251|chr17:34438389-34666383|17:34443777-34537005|chr17:34480907-34594251|chr17:34480907-34674805|chr17:34502750-34675848|17:34502930-34524195|17:34502941-34524192|17:34517741-34540630,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34435674-34621060|17:34436438-34780239|chr17:34438389-34594251|chr17:34438389-34666383|chr17:34480907-34594251|chr17:34480907-34674805|chr17:34502750-34675848|17:34517741-34540630,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34435674-34621060|17:34436438-34780239|chr17:34438389-34594251|chr17:34438389-34666383|chr17:34480907-34594251|chr17:34480907-34674805|chr17:34502750-34675848,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34436438-34780239|chr17:34438389-34666383|chr17:34480907-34674805|chr17:34502750-34675848|chr17:34594251-34657961|chr17:34594251-34674805|17:34610042-34641487,17:34426246-34870708|17:34436438-34780239|chr17:34726651-34808825,17:34426246-34870708|chr17:34726651-34808825|chr17:34758000-34809000|chr17:34768932-34808825;B_gain_AFmax=0.03,0.1041,0.1041,0.0994,0.0994,0.0994,0.0994,0.03;B_loss_source=.,DDD:49240|DDD:49243,DDD:49240|DDD:49243|DDD:49256|HI40:ISCA-46698|dgv545e199,DDD:49240|DDD:49256|HI40:ISCA-46698|dgv545e199,DDD:49240,DDD:49240|dgv546e199,DDD:49240,.;B_loss_coord=.,17:34436438-34780239|17:34443777-34537005,17:34436438-34780239|17:34443777-34537005|17:34508446-34554792|17:34509780-34551554|17:34517741-34540630,17:34436438-34780239|17:34508446-34554792|17:34509780-34551554|17:34517741-34540630,17:34436438-34780239,17:34436438-34780239|17:34591446-34670592,17:34436438-34780239,.;B_loss_AFmax=.,0.0982,0.15,0.15,0.0982,0.1,0.0982,.;B_inv_source=IMH;B_inv_coord=17:30436599-65922464|17:32367054-60556542|17:32367223-60556516|17:32367435-60556508;B_inv_AFmax=0.2252;po_B_gain_someG_source=chr17:34405281-34480907_dbVar|17:34416412-34496071_nsv514836|17:34424712-34477480_dgv908e212|17:34426246-34870708_dgv122e55|17:34435513-34485079_dgv3148n100|17:34435674-34621060_DDD:49237|17:34436100-34482872_1000g|17:34436100-34482872_dgv572e214|chr17:34437000-34494000_dbVar|17:34437483-34477480_dgv910e212|chr17:34438389-34594251_dbVar|17:34443777-34537005_DDD:49243|chr17:34480907-34594251_dbVar|chr17:34493000-34503000_dbVar|17:34502930-34524195_nsv514837|17:34517741-34540630_DDD:49256|17:34580927-34587273_DDD:49263|chr17:34594251-34674805_dbVar|17:34625755-34641426_DDD:49271|chr17:34726651-34808825_dbVar...;po_B_gain_someG_coord=17:34387632-34629696_esv2762388|chr17:34405281-34674805_dbVar|17:34416538-34629684_dgv3144n100|17:34425364-34477387_dgv121e55|17:34431132-34484342_DDD:49235|17:34435513-34629696_esv2760467|chr17:34436099-34482872_dbVar|17:34436100-34482872_1000g|17:34436438-34780239_DDD:49240|17:34437129-34485091_esv2421587|chr17:34438389-34480907_dbVar|chr17:34438389-34666383_dbVar|chr17:34448629-34449060_dbVar|chr17:34480907-34674805_dbVar|chr17:34502750-34675848_dbVar|17:34502941-34524192_TS40:ISCA-46706|17:34538648-34540293_nsv514838|chr17:34594251-34657961_dbVar|17:34610042-34641487_nsv514839|chr17:34725848-34756800_dbVar...;po_B_loss_someG_source=17:34438323-34449809_DDD:49242|chr17:34445826-34446140_dbVar|17:34508446-34554792_dgv545e199|17:34517741-34540630_DDD:49256|chr17:34540766-34540825_dbVar|17:34580927-34587273_DDD:49263|17:34625755-34641426_DDD:49271|chr17:34642332-34642392_dbVar|17:34702019-34702094_DDD:49280|17:34762644-34775639_DDD:49288|chr17:34812000-36251000_dbVar;po_B_loss_someG_coord=17:34436438-34780239_DDD:49240|17:34443777-34537005_DDD:49243|17:34446621-34447535_DDD:49246|17:34509780-34551554_HI40:ISCA-46698|chr17:34528205-34528314_dbVar|17:34540766-34540825_gnomAD-SV_v2.1_DEL_17_159956|17:34591446-34670592_dgv546e199|chr17:34629804-34629885_dbVar|17:34642332-34642392_gnomAD-SV_v2.1_DEL_17_159958|17:34750173-34796456_DDD:49284|chr17:34808750-34815000_dbVar;Cosmic_ID=650936|666192|914982|843056|871448|792583|651331|1008133|1008390|1008393|1008397|1008403|1008404|1008414|1008416|1008428|1008433|1008436|940419|987474|2208771|1314448|1320799|1505611|965332|831456|791549|1587115|878636|1428723|1966753|1241176|2242284|2563085|874577|1206030|1721282|2234627|1868520|2161178|2592993|823129|719980|897048|899422|920618|881956|607486|916148|602398|892138|...,.,.,.,.,.,.,885243;Cosmic_mut_typ=loss|gain,.,.,.,.,.,.,gain;GC_content_left=0.435;GC_content_right=0.515;Repeat_coord_left=17:34437545-34437861;Repeat_type_left=7SLRNA;SegDup_left=17:34405992-34437446|17:34405992-34437446;DDD_HI_percent=94.43,94.43,88.85,84.65,.,88.49,93.12,93.73;ExAC_synZ=2.42746656950142,2.42746656950142,.,1.02068766819866,.,.,.,1.8673923772413;ExAC_misZ=2.41694262394586,2.41694262394586,.,1.31010018701924,.,.,.,2.14567117504116;NCBI_gene_ID=.,414059,414062,9560,414059,6349,729877,84218;OMIM_morbid_candidate=yes,.,.,.,.,yes,.,.;LOEUF_bin=7,7,9,9,.,9,.,9;GnomAD_pLI=0.31517,0.21949,0.31517,0.088586,.,0.12057,.,1.3666e-05;ExAC_pLI=0.63692,0.63692,.,0.48994,.,.,.,0.62038;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|3A_(7_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1;END=34817481;SVLEN=380005 GT 1/. +17 14100119 . T . PASS AnnotSV_ID=17_14100119_15442066_DUP_1;SV_start=14100119;Biologist_annotation=PMP22_(CMT1A);Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p12;Gene_name=COX10|CDRT15|HS3ST3B1|MGC12916|CDRT7|LOC101928475|CDRT8|PMP22|MIR4731|TEKT3|CDRT4|TVP23C-CDRT4|CDRT3|TVP23C,COX10,CDRT15,HS3ST3B1,MGC12916,CDRT7,LOC101928475,CDRT8,PMP22,MIR4731,TEKT3,CDRT4,TVP23C-CDRT4,CDRT3,TVP23C;Closest_left=COX10-DT;Closest_right=FBXW10B;Gene_count=14;Tx=.,NM_001303,NM_001007530,NM_006041,NR_026880,NR_033371,NR_135638,NR_103559,NM_000304,NR_039884,NM_031898,NM_001204477,NM_001204478,NR_146601,NM_145301;Tx_version=.,4,3,3,1,1,1,1,4,1,3,2,2,1,3;Tx_start=.,13972820,14138989,14204397,14207056,14934291,14954671,15008301,15133095,15154943,15207128,15339331,15339331,15373624,15405577;Tx_end=.,14111994,14140179,14252721,14209062,14935274,14955593,15009504,15168643,15155013,15244914,15370935,15466797,15374150,15466797;Overlapped_tx_length=.,11876,1190,48324,2006,983,922,1203,35548,70,37786,31604,102735,526,36489;Overlapped_CDS_length=.,404,567,1173,0,0,0,0,483,0,1473,459,33,0,369;Overlapped_CDS_percent=.,30,100,100,0,0,0,0,100,0,100,100,6,0,44;Frameshift=.,yes,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,7,3,2,1,3,1,2,5,1,9,4,7,1,6;Location=.,intron6-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,intron5-txEnd,txStart-txEnd,intron5-txEnd;Location2=.,CDS-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,CDS-3'UTR,UTR,CDS-3'UTR;Dist_nearest_SS=.,4580,.,.,.,.,.,.,.,.,.,.,7032,.,7032;Nearest_SS_type=.,5',.,.,.,.,.,.,.,.,.,.,5',.,5';Intersect_start=.,14100118,14138989,14204397,14207056,14934291,14954671,15008301,15133095,15154943,15207128,15339331,15339331,15373624,15405577;Intersect_end=.,14111994,14140179,14252721,14209062,14935274,14955593,15009504,15168643,15155013,15244914,15370935,15442066,15374150,15442066;RE_gene=ABCG8_(morbid/RE=mTL_miRNA)|ACBD5_(morbid/RE=mTL_miRNA)|ACVRL1_(HI=3/morbid/RE=mTL_miRNA)|AMH_(morbid/RE=mTL_miRNA)|ANKS6_(morbid/RE=mTL_miRNA)|ATL3_(morbid/RE=mTL_miRNA)|ATP9A_(morbid/RE=mTL_miRNA)|CABP4_(morbid/RE=mTL_miRNA)|CACNA1C_(morbid/RE=mTL_miRNA)|CAVIN1_(morbid/RE=mTL_miRNA)|CD4_(morbid/RE=mTL_miRNA)|CDT1_(morbid/RE=mTL_miRNA)|CEP104_(morbid/RE=mTL_miRNA)|CHD7_(HI=3/morbid/RE=mTL_miRNA)|CHEK1_(morbid/RE=mTL_miRNA)|CHST6_(morbid/RE=mTL_miRNA)|CISD2_(morbid/RE=mTL_miRNA)|CPT1A_(morbid/RE=mTL_miRNA)|CREB1_(morbid/RE=mTL_miRNA)|CRIPT_(morbid/RE=mTL_miRNA)|CYB5A_(morbid/RE=mTL_miRNA)|CYCS_(morbid/RE=mTL_miRNA)|DNAJB13_(morbid/RE=mTL_miRNA)|DNAJB4_(morbid/RE=mTL_miRNA)|DNAL1_(morbid/RE=mTL_miRNA)|DPP9_(morbid/RE=mTL_miRNA)|EIF2B2_(morbid/RE=mTL_miRNA)|ELAC2_(morbid/RE=ABC_enhancer)|EMC1_(morbid/RE=mTL_miRNA)|FANCA_(morbid/RE=mTL_miRNA)|GAN_(morbid/RE=mTL_miRNA)|GATAD2B_(HI=3/morbid/RE=mTL_miRNA)|GNB5_(morbid/RE=mTL_miRNA)|GOLGA2_(morbid/RE=mTL_miRNA)|GPRC5B_(morbid/RE=mTL_miRNA)|HCFC1_(morbid/RE=mTL_miRNA)|HCN4_(morbid/RE=mTL_miRNA)|HFE_(morbid/RE=mTL_miRNA)|IKBKG_(HI=3/morbid/RE=mTL_miRNA)|IRAK4_(morbid/RE=mTL_miRNA)|ISCA2_(morbid/RE=mTL_miRNA)|KCND3_(morbid/RE=mTL_miRNA)|KCNH2_(HI=3/morbid/RE=mTL_miRNA)|KDM6B_(morbid/RE=mTL_miRNA)|KIAA1549_(morbid/RE=mTL_miRNA)|LDHD_(morbid/RE=mTL_miRNA)|LIAS_(morbid/RE=mTL_miRNA)|LNPK_(morbid/RE=mTL_miRNA)|LRTOMT_(morbid/RE=mTL_miRNA)|LYN_(morbid/RE=mTL_miRNA)...;P_gain_source=dbVar:nssv15123319|nssv18792872|dbVar:nssv15123460|dbVar:nssv15124534|dbVar:nssv15130870|dbVar:nssv15132574|nssv15139980|nssv16091758|dbVar:nssv15143888|dbVar:nssv15144711|dbVar:nssv15605910|dbVar:nssv15770494|dbVar:nssv15770609|dbVar:nssv15770794|dbVar:nssv16216948|dbVar:nssv17171394|dbVar:nssv17171395|dbVar:nssv17171396|dbVar:nssv17517518|dbVar:nssv17968761|dbVar:nssv17971796|dbVar:nssv18788963,.,.,.,.,.,.,.,dbVar:nssv15130870|dbVar:nssv15770494|dbVar:nssv15770609|dbVar:nssv15770794|dbVar:nssv17171395|dbVar:nssv17171396|dbVar:nssv17517518|dbVar:nssv17971796|dbVar:nssv18788963,.,.,.,.,.,.;P_gain_coord=17:14104013-15422557|17:14111773-15442066|17:14139890-15406546|17:14413313-15169915|17:15036413-15036413|17:15132095-15169674|17:15133085-15164054|17:15133095-15164078|17:15133097-15165152|17:15133098-15164054|17:15133961-15169915|17:15134215-15162530|17:15134215-15164064|17:15134229-15164050|17:15134234-15164044|17:15134235-15164044|17:15142769-15164064|17:15142779-15164054|17:15162412-15406546,.,.,.,.,.,.,.,17:15133097-15165152|17:15133098-15164054|17:15134215-15162530|17:15134215-15164064|17:15134229-15164050|17:15134234-15164044|17:15134235-15164044|17:15142769-15164064|17:15142779-15164054,.,.,.,.,.,.;P_loss_phen=?Neuropathy,_inflammatory_demyelinating,_139393_(3)_?AD|Charcot-Marie-Tooth_disease,_type_1A,_118220_(3)_AD|Charcot-Marie-Tooth_disease,_type_1E,_118300_(3)_AD|Dejerine-Sottas_disease,_145900_(3)_AR,AD|Neuropathy,_recurrent,_with_pressure_palsies,_162500_(3)_AD|Roussy-Levy_syndrome,_180800_(3)_AD|Spermatogenic_failure_81,_620277_(3)_AR,.,.,.,.,.,.,.,?Neuropathy,_inflammatory_demyelinating,_139393_(3)_?AD|Charcot-Marie-Tooth_disease,_type_1A,_118220_(3)_AD|Charcot-Marie-Tooth_disease,_type_1E,_118300_(3)_AD|Dejerine-Sottas_disease,_145900_(3)_AR,AD|Neuropathy,_recurrent,_with_pressure_palsies,_162500_(3)_AD|Roussy-Levy_syndrome,_180800_(3)_AD,.,Spermatogenic_failure_81,_620277_(3)_AR,.,.,.,.;P_loss_source=HI3:PMP22|dbVar:nssv15119700|nssv15120161|dbVar:nssv15123358|dbVar:nssv15124100|dbVar:nssv15124536|dbVar:nssv15130148|nssv15131578|dbVar:nssv15131641|dbVar:nssv15132056|dbVar:nssv15133540|dbVar:nssv15152434|dbVar:nssv15605873|dbVar:nssv15770639|dbVar:nssv16212046|dbVar:nssv16213644|dbVar:nssv17171685|dbVar:nssv17171686|dbVar:nssv17171687|dbVar:nssv17517519|dbVar:nssv17968760|dbVar:nssv17971249|dbVar:nssv17971279|dbVar:nssv17972656|dbVar:nssv17974454|dbVar:nssv17974892|dbVar:nssv18788962|morbid:PMP22|morbid:TEKT3,dbVar:nssv15124536,.,.,.,.,.,.,dbVar:nssv15119700|nssv15120161|dbVar:nssv15131641|dbVar:nssv15133540|dbVar:nssv15770639|dbVar:nssv16212046|dbVar:nssv17171685|dbVar:nssv17171686|dbVar:nssv17171687|dbVar:nssv17517519|dbVar:nssv17968760|dbVar:nssv17971279|dbVar:nssv17974892|dbVar:nssv18788962|morbid:PMP22,.,morbid:TEKT3,.,.,.,.;P_loss_coord=17:14110044-14111913|17:14111773-15442066|17:14128551-15422557|17:14139890-15142928|17:14215740-15422582|17:14763747-15242181|17:15133085-15134407|17:15133085-15142938|17:15133085-15164054|17:15133095-15164078|17:15133095-15168690|17:15133098-15164054|17:15133961-15169915|17:15134215-15164064|17:15134234-15164044|17:15134235-15164044|17:15138536-15168643|17:15142769-15142948|17:15142779-15142938|17:15142779-15164054|17:15142930-15164044|17:15152792-15162532|17:15162392-15164044|17:15162402-15162520|17:15162402-15162523|17:15162402-15164054|17:15207129-15244914,17:14110044-14111913,.,.,.,.,.,.,17:15133098-15164054|17:15134215-15164064|17:15134234-15164044|17:15134235-15164044|17:15138536-15168643|17:15142769-15142948|17:15142779-15142938|17:15142779-15164054|17:15142930-15164044|17:15152792-15162532|17:15162392-15164044|17:15162402-15162520|17:15162402-15162523|17:15162402-15164054,.,17:15207129-15244914,.,.,.,.;po_P_gain_phen=17p12_recurrent_(HNPP/CMT1A)_region_(includes_PMP22);po_P_gain_source=dbVar:nssv15148946|dbVar:nssv15150353|dbVar:nssv15149908|nssv15152170|dbVar:nssv15159024|dbVar:nssv15160732|dbVar:nssv15159027|dbVar:nssv15121114|dbVar:nssv17976715|dbVar:nssv15133502|dbVar:nssv15605908|dbVar:nssv17955950|dbVar:nssv18330199|dbVar:nssv15127850|dbVar:nssv15155527|dbVar:nssv18330563|dbVar:nssv16215327|dbVar:nssv15152221|dbVar:nssv15155528|dbVar:nssv15152212|dbVar:nssv15151828|dbVar:nssv15138362|dbVar:nssv18330766|dbVar:nssv15152433|dbVar:nssv15141972|dbVar:nssv15137438|dbVar:nssv15138198|dbVar:nssv15151261|dbVar:nssv15152245|dbVar:nssv15139258|nssv15130449|dbVar:nssv18329572|dbVar:nssv18330190|dbVar:nssv18330250|dbVar:nssv18329615|dbVar:nssv15133504|dbVar:nssv15138548|dbVar:nssv15133503|dbVar:nssv17976450|dbVar:nssv18842067|dbVar:nssv18792739|dbVar:nssv18792799|dbVar:nssv17955866|TS3:ISCA-37436|dbVar:nssv17649964|dbVar:nssv15123339|dbVar:nssv15141042|dbVar:nssv15122626|dbVar:nssv16867389|dbVar:nssv15140957|dbVar:nssv15141757|dbVar:nssv15123522|dbVar:nssv15159072|dbVar:nssv15605912|dbVar:nssv15137903|dbVar:nssv15123444|dbVar:nssv16207305|dbVar:nssv15136705|dbVar:nssv15134920|dbVar:nssv15132415|dbVar:nssv15133505;po_P_gain_coord=17:526-14667519|17:526-15027737|17:527-81041938|17:7215-81058310|17:8548-81060040|17:12345-81057996|17:10795577-17867596|17:11819315-17795978|17:14029614-15562901|17:14063252-15449627|17:14073285-15442296|17:14073564-15479923|17:14073604-15482773|17:14076431-15491532|17:14078284-15479940|17:14079631-15370444|17:14083055-15463054|17:14083055-15479940|17:14083055-15491532|17:14083055-15491533|17:14083055-15567669|17:14083056-15483608|17:14085653-15512120|17:14087934-15437330|17:14087934-15484358|17:14087934-15484858|17:14087934-15490100|17:14087934-15491532|17:14087934-15500645|17:14087935-15479940|17:14087935-15483608|17:14087935-15484358|17:14087935-15484630|17:14090301-15467184|17:14090301-15473590|17:14090301-15482240|17:14093319-15476314|17:14095257-15492591|17:14095307-15466762|17:14095307-15472344|17:14096090-15492591|17:14097916-15422952|17:14098197-15442500|17:14098278-15471179|17:14098661-15501133|17:14099743-15471179|17:14100119-15455297|17:14100119-15458649|17:14100119-15492400|17:14100119-15492444|17:14101030-15504740|17:14105875-15611546|17:14111773-15482872|17:14139858-15707850|17:14195643-15545880|17:15093601-15856310|17:15113718-18184130|17:15138003-20524013|17:15162482-20828612;po_P_gain_percent=3.87|6.17|1.66|1.66|1.66|1.66|18.98|22.45|87.52|96.80|98.02|95.42|95.23|94.83|95.74|98.41|97.24|96.07|95.28|95.28|90.39|95.82|94.07|99.10|96.10|96.06|95.71|95.61|94.99|96.40|96.15|96.10|96.08|97.46|97.01|96.41|97.03|96.04|97.85|97.45|96.09|99.83|99.82|97.75|95.68|97.85|99.02|98.78|96.38|96.38|95.54|88.74|97.02|83.05|92.31|45.69|10.69|5.65|4.93;po_P_loss_phen=17p12_recurrent_(HNPP/CMT1A)_region_(includes_PMP22)|Mitochondrial_complex_IV_deficiency,_nuclear_type_3,_619046_(3)_AR;po_P_loss_source=morbid:COX10|dbVar:nssv15129689|dbVar:nssv17976967|dbVar:nssv18330114|dbVar:nssv15145216|dbVar:nssv18330761|dbVar:nssv15138335|dbVar:nssv18330252|dbVar:nssv15145035|dbVar:nssv15141682|dbVar:nssv15141099|dbVar:nssv15138794|dbVar:nssv18330872|dbVar:nssv15137498|nssv15155529|dbVar:nssv15137504|dbVar:nssv18330269|dbVar:nssv18842062|dbVar:nssv15141647|HI3:ISCA-37436|dbVar:nssv18330706|dbVar:nssv15150275|dbVar:nssv15129116|dbVar:nssv15123772|dbVar:nssv15141918|dbVar:nssv15159071|nssv15605909|dbVar:nssv15123331|dbVar:nssv15605911|dbVar:nssv18786371|dbVar:nssv15605913|dbVar:nssv16255829|dbVar:nssv15136096|dbVar:nssv15136245|dbVar:nssv15126994|dbVar:nssv15134560|dbVar:nssv15137984;po_P_loss_coord=17:13972821-14111994|17:14073604-15482773|17:14076990-15473312|17:14077820-15491532|17:14082226-15421861|17:14082946-15484858|17:14083055-15475087|17:14083056-15484859|17:14086859-15476561|17:14087788-15473312|17:14087788-15483608|17:14087788-15490100|17:14087789-15484858|17:14087934-15484858|17:14087934-15491532|17:14087935-15491532|17:14095257-15477547|17:14095640-15274712|17:14097916-15422952|17:14098248-15475654|17:14098661-15500645|17:14098787-15495266|17:14099743-15471179|17:14100119-15455238|17:14101030-15449627|17:14101030-15482817|17:14104013-15551814|17:14110128-15472344|17:14110452-15449097|17:14111755-15442178|17:14111773-15482872|17:14111773-15491748|17:14112032-15482773|17:14574436-15856310|17:14970117-17375771;po_P_loss_percent=8.53|95.23|96.11|94.92|98.66|95.72|96.40|95.73|96.56|96.85|96.14|95.70|96.05|96.06|95.61|95.61|97.08|99.62|99.83|97.43|95.72|96.10|97.85|99.03|99.44|97.05|92.42|97.78|99.47|99.99|97.02|96.40|97.03|67.68|19.62;P_snvindel_nb=52,1,.,.,.,.,.,.,51,.,.,.,.,.,.;P_snvindel_phen=Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease,_type_I|Charcot-Marie-Tooth_disease,_type_IA|Charcot-Marie-Tooth_disease_type_1E|Charcot-Marie-Tooth_disease_type_2E|Cytochrome-c_oxidase_deficiency_disease|Dejerine-Sottas_disease|Dejerine-Sottas_syndrome,_autosomal_dominant|Hereditary_liability_to_pressure_palsies|Inborn_genetic_diseases|Mitochondrial_complex_4_deficiency,_nuclear_type_3|Roussy-Lévy_syndrome,Cytochrome-c_oxidase_deficiency_disease|Mitochondrial_complex_4_deficiency,_nuclear_type_3,.,.,.,.,.,.,Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease,_type_I|Charcot-Marie-Tooth_disease,_type_IA|Charcot-Marie-Tooth_disease_type_1E|Charcot-Marie-Tooth_disease_type_2E|Dejerine-Sottas_disease|Dejerine-Sottas_syndrome,_autosomal_dominant|Hereditary_liability_to_pressure_palsies|Inborn_genetic_diseases|Roussy-Lévy_syndrome,.,.,.,.,.,.;B_gain_source=dbVar,dbVar,dbVar,dbVar,dbVar,1000g|dbVar|esv3640046,1000g|dbVar|esv3640046,1000g|dbVar|esv3640046,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar;B_gain_coord=chr17:14096997-15486650,chr17:14096997-15486650,chr17:14096997-15486650|chr17:14126839-14220873,chr17:14096997-15486650,chr17:14096997-15486650|chr17:14126839-14220873,chr17:14096997-15486650|chr17:14668589-15084842|17:14668590-15084842|17:14668590-15084842,chr17:14096997-15486650|chr17:14668589-15084842|17:14668590-15084842|17:14668590-15084842,chr17:14096997-15486650|chr17:14668589-15084842|17:14668590-15084842|17:14668590-15084842,chr17:14096997-15486650,chr17:14096997-15486650|chr17:15133798-15197525,chr17:14096997-15486650,chr17:14096997-15486650|chr17:15287341-15482010,chr17:14096997-15486650|chr17:15287341-15482010,chr17:14096997-15486650|chr17:15287341-15482010,chr17:14096997-15486650|chr17:15287341-15482010;B_gain_AFmax=0.01,0.01,0.01,0.01,0.01,0.272,0.272,0.272,0.01,0.01,0.01,0.01,0.01,0.01,0.01;B_loss_source=dbVar;B_loss_coord=chr17:14093499-15486000,chr17:14093499-15486000,chr17:14093499-15486000|chr17:14126839-14220873,chr17:14093499-15486000,chr17:14093499-15486000|chr17:14126839-14220873,chr17:14093499-15486000|chr17:14668589-15084842|chr17:14920183-14938805|chr17:14931264-14977742,chr17:14093499-15486000|chr17:14668589-15084842|chr17:14931264-14977742,chr17:14093499-15486000|chr17:14668589-15084842|chr17:14995672-15057656|chr17:14995771-15057475,chr17:14093499-15486000,chr17:14093499-15486000|chr17:15070858-15163533|chr17:15112458-15159531|chr17:15150741-15155583,chr17:14093499-15486000,chr17:14093499-15486000|chr17:15287341-15482010,chr17:14093499-15486000|chr17:15287341-15482010,chr17:14093499-15486000|chr17:15287341-15482010,chr17:14093499-15486000|chr17:15287341-15482010;B_loss_AFmax=0.01;po_B_gain_someG_source=chr17:14126839-14220873_dbVar|17:14191081-14191901_DDD:48801|chr17:14194000-14199000_dbVar|chr17:14224374-14483419_dbVar|17:14224375-14483419_esv3640026|chr17:14256910-14257055_dbVar|chr17:14298872-14298951_dbVar|chr17:14334186-14339815_dbVar|chr17:14447875-14456539_dbVar|chr17:14668589-15084842_dbVar|17:14668590-15084842_esv3640046|chr17:14685229-14700196_dbVar|chr17:15028960-15030846_dbVar|chr17:15133798-15197525_dbVar|chr17:15287341-15482010_dbVar|chr17:15332787-15332860_dbVar|;po_B_gain_someG_coord=chr17:14096997-15486650_dbVar|chr17:14159542-14160385_dbVar|17:14191081-14198547_DDD:48802|chr17:14216314-14217439_dbVar|17:14224375-14483419_1000g|chr17:14241867-14248195_dbVar|chr17:14284612-14628667_dbVar|chr17:14300914-14367997_dbVar|chr17:14386097-14390355_dbVar|chr17:14489639-14632921_dbVar|17:14668590-15084842_1000g|chr17:14670267-14671370_dbVar|chr17:14767901-14773352_dbVar|chr17:15118923-15125291_dbVar|chr17:15151620-15151916_dbVar|chr17:15323152-15369177_dbVar|chr17:15439000-15444000_dbVar;po_B_loss_someG_source=chr17:14096682-14108514_dbVar|chr17:14126839-14220873_dbVar|chr17:14155625-14155942_dbVar|chr17:14189910-14191555_dbVar|17:14189911-14191555_DDD:48799|17:14189911-14191555_esv2665541|17:14189911-14191557_1000g|17:14189912-14191555_IMH|17:14191081-14191901_DDD:48801|chr17:14220258-14221199_dbVar|17:14240918-14242023_DDD:48803|17:14240923-14242032_1000g|17:14240941-14242023_IMH|chr17:14241867-14248195_dbVar|chr17:14269249-14271950_dbVar|chr17:14277792-14278679_dbVar|chr17:14300414-14308117_dbVar|chr17:14314642-14320048_dbVar|chr17:14315900-14328444_dbVar|17:14332272-14332576_gnomAD-SV_v2.1_DEL_17_158748...;po_B_loss_someG_coord=chr17:14093499-15486000_dbVar|chr17:14105499-14108091_dbVar|chr17:14132469-14133456_dbVar|chr17:14186324-14196555_dbVar|chr17:14189910-14191557_dbVar|chr17:14189911-14191555_dbVar|17:14189911-14191555_gnomAD-SV_v2.1_DEL_17_158736|17:14189911-14191557_esv3640023|17:14190834-14191460_nsv574421|chr17:14210420-14210623_dbVar|chr17:14224374-14483419_dbVar|chr17:14240922-14242032_dbVar|17:14240923-14242032_esv3640027|chr17:14240941-14242023_dbVar|chr17:14256280-14258428_dbVar|chr17:14272755-14288592_dbVar|chr17:14284612-14628667_dbVar|chr17:14300914-14367997_dbVar|chr17:14314678-14320063_dbVar|chr17:14332272-14332576_dbVar...;Cosmic_ID=557088|527329|960663|960664|271780|2830900|301045|262086|573463|591221|586955|271781|581715|527330|468582|482431|573464|531792|306277|570216|937731|271782|162997|826587|816488|787511|784668|811329|831423|864749|823089|2560430|815034|813495|809567|835854|40950|162998|288724|470190|429012|345937|271783|304081|826588|59114|782435|984637|470191|429013|1070158|...,.,.,288724|470190|429012|271783|1070158,.,.,.,.,740803|342512,.,740806|740807|740808|54646|740809|740810,.,323831|1950846|1878175|1562489|1993654|39252,.,.;Cosmic_mut_typ=loss|gain,.,.,loss|gain,.,.,.,.,loss|gain,.,loss|gain,.,loss|gain,.,.;GC_content_left=0.505;GC_content_right=0.42;SegDup_right=17:15422954-15470900;HI=3,30,.,.,.,.,.,.,3,.,.,.,.,.,.;TS=.,.,.,.,.,.,.,.,0,.,.,.,.,.,.;DDD_HI_percent=96.58,60.22,96.58,42.95,.,.,.,.,40.48,.,59.06,86.77,52.33,.,49.2;ExAC_delZ=-2.62354415217069,-2.62354415217069,-2.62354415217069,-2.62354415217069,.,.,.,.,-2.62354415217069,.,-2.62354415217069,-2.62354415217069,-2.62354415217069,.,-2.62354415217069;ExAC_dupZ=-0.276965016632095,-2.20885612270982,-2.20416703243077,-0.276965016632095,.,.,.,.,-1.55852578268999,.,-1.25885348060374,-2.24141606178004,-2.53125239294469,.,-2.53125239294469;ExAC_cnvZ=-1.64032033771268,-2.47162789907313,-2.47162789907313,-1.64032033771268,.,.,.,.,-2.47162789907313,.,-2.47162789907313,-2.47162789907313,-2.47162789907313,.,-2.47162789907313;ExAC_synZ=3.6772325764896,0.16322796385632,1.67462394349301,3.6772325764896,.,.,.,.,-0.424806725478425,.,0.241972873531725,-0.193191475026352,0.433099426603836,.,0.622094281610252;ExAC_misZ=4.17517843763452,0.511864222455301,1.73432863871862,4.17517843763452,.,.,.,.,1.07197498670855,.,-0.405588628410555,0.152950560142403,0.962176598220999,.,0.322678575541803;GenCC_disease=.,Leigh_syndrome|cytochrome-c_oxidase_deficiency_disease|mitochondrial_complex_4_deficiency,_nuclear_type_3|mitochondrial_disease,.,.,.,.,.,.,Charcot-Marie-Tooth_disease_type_1A|Charcot-Marie-Tooth_disease_type_1E|Charcot-Marie-Tooth_disease_type_3|hereditary_neuropathy_with_liability_to_pressure_palsies,.,spermatogenic_failure_81,.,.,.,.;GenCC_moi=.,AR,.,.,.,.,.,.,AD,.,.,.,.,.,.;GenCC_classification=.,Definitive|Moderate|Strong|Supportive,.,.,.,.,.,.,Definitive|Moderate|Strong|Supportive,.,Limited,.,.,.,.;GenCC_pmid=.,10767350|10767350[PMID]_12928484[PMID]_15455402[PMID]|12928484|15455402|16103131|22622581|24100867,.,.,.,.,.,.,10330345|118220|12578939|162500|18698610[PMID]_12090401[PMID]|20301384[PMID]|23224996|24175617|601097|7931393|8355122|9143558|NULL,.,18951373|36708031,.,.,.,.;NCBI_gene_ID=.,1352,146822,9953,.,94150,.,94151,5376,100616125,64518,284040,100533496,94145,201158;OMIM_ID=602125|601097|612683,602125,.,.,.,.,.,.,601097,.,612683,.,.,.,.;OMIM_phenotype=.,Mitochondrial_complex_IV_deficiency,_nuclear_type_3,_619046_(3)_AR,.,.,.,.,.,.,?Neuropathy,_inflammatory_demyelinating,_139393_(3)_?AD|Charcot-Marie-Tooth_disease,_type_1A,_118220_(3)_AD|Charcot-Marie-Tooth_disease,_type_1E,_118300_(3)_AD|Dejerine-Sottas_disease,_145900_(3)_AD,AR|Neuropathy,_recurrent,_with_pressure_palsies,_162500_(3)_AD|Roussy-Levy_syndrome,_180800_(3)_AD,.,Spermatogenic_failure_81,_620277_(3)_AR,.,.,.,.;OMIM_inheritance=.,AR,.,.,.,.,.,.,?AD|AD|AD,AR,.,AR,.,.,.,.;OMIM_morbid=yes,yes,.,.,.,.,.,.,yes,.,yes,.,.,.,.;OMIM_morbid_candidate=yes,.,.,.,.,.,.,.,yes,.,.,.,.,.,.;LOEUF_bin=1,3,9,4,.,.,.,.,1,.,7,9,7,.,7;GnomAD_pLI=0.90958,0.08405,1.282e-06,0.29349,.,.,.,.,0.90958,.,1.9845e-17,0.095789,8.7378e-07,.,2.3189e-05;ExAC_pLI=0.83315,0.64657,0.0075064,0.085455,.,.,.,.,0.83315,.,3.1995e-14,0.24429,0.0023623,.,0.00013674;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_gain_source,_+1.00)|2H-2_(PMP22/TEKT3,_+0.00)|2J_(COX10,_+0.00)|2L_(TVP23C/TVP23C-CDRT4,_+0.00)|3A_(14_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=15442066;SVLEN=1341947 GT 1/. +17 34437476 . T . PASS AnnotSV_ID=17_34437476_34817481_DUP_1;SV_start=34437476;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split;CytoBand=q12;Gene_name=TBC1D3B|CCL3L3|CCL4L2|TBC1D3I|CCL3L1|TBC1D3H|TBC1D3F,TBC1D3B,CCL3L3,CCL4L2,TBC1D3I,CCL3L1,TBC1D3H,TBC1D3F;Closest_left=CCL4;Closest_right=ZNHIT3;Gene_count=7;Tx=.,NM_001001417,NM_001001437,NM_001291471,NM_001291463,NM_021006,NM_001123392,NM_032258;Tx_version=.,7,4,2,2,5,4,5;Tx_start=.,34493062,34522267,34538464,34581084,34623841,34746118,34797171;Tx_end=.,34503996,34524157,34540275,34592039,34625731,34757005,34808058;Overlapped_tx_length=.,10934,1890,1811,10955,1890,10887,10887;Overlapped_CDS_length=.,1650,282,312,1650,282,1650,1650;Overlapped_CDS_percent=.,100,100,100,100,100,100,100;Frameshift=.,no,no,no,no,no,no,no;Exon_count=.,14,3,3,14,3,14,14;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR;Intersect_start=.,34493062,34522267,34538464,34581084,34623841,34746118,34797171;Intersect_end=.,34503996,34524157,34540275,34592039,34625731,34757005,34808058;RE_gene=PEX12_(morbid/RE=GH_enhancer)|PIGW_(morbid/RE=EA_enhancer)|ZNHIT3_(morbid/RE=ABC_enhancer+GH_enhancer);po_P_gain_phen=17q12_recurrent_(RCAD_syndrome)_region_(includes_HNF1B);po_P_gain_source=dbVar:nssv15149908|nssv15152170|dbVar:nssv15159024|dbVar:nssv15160732|dbVar:nssv15159027|dbVar:nssv15127236|dbVar:nssv15775117|dbVar:nssv15132421|dbVar:nssv15132422|dbVar:nssv15155541|dbVar:nssv18330713|dbVar:nssv15155542|dbVar:nssv15605916|dbVar:nssv16736632|dbVar:nssv15138685|dbVar:nssv15142873|dbVar:nssv15141421|dbVar:nssv15132229|nssv15139703|dbVar:nssv15125411|dbVar:nssv15125622|dbVar:nssv15130152|nssv15132345|nssv15139691|dbVar:nssv15135915|dbVar:nssv15124805|dbVar:nssv18842005|TS3:ISCA-37432|dbVar:nssv15132164|dbVar:nssv17649867|dbVar:nssv16215252|dbVar:nssv15123756|dbVar:nssv15133519|dbVar:nssv16736603|dbVar:nssv15135870;po_P_gain_coord=17:527-81041938|17:7215-81058310|17:8548-81060040|17:12345-81057996|17:16757564-81048189|17:21690654-38772647|17:34310999-36297053|17:34360169-36209228|17:34425363-36283612|17:34425364-36404555|17:34426245-36225988|17:34437476-36214026|17:34437476-36243028|17:34437483-36244358|17:34437483-36350584|17:34437483-36404555|17:34508118-36248918|17:34526602-36188734|17:34604365-36231917|17:34611353-36248918|17:34611353-36263019|17:34750819-36354738|17:34752222-36105007|17:34815073-36192489|17:34815185-36209228|17:34815467-36249366|17:34815552-36244358|17:34815552-36249800|17:34817423-36173763|17:34817423-36243028|17:34817423-36248918;po_P_gain_percent=0.47|0.47|0.47|0.47|0.59|2.22|19.13|20.55|20.45|19.20|21.11|21.39|21.05|21.03|19.86|19.32|17.77|17.50|13.09|12.59|12.48|4.16|4.82|0.17|0.16|0.14|0.14|0.13|0.00|0.00|0.00;po_P_loss_phen=17q12_recurrent_(RCAD_syndrome)_region_(includes_HNF1B);po_P_loss_source=dbVar:nssv18830976|dbVar:nssv15137372|dbVar:nssv8639331|dbVar:nssv15142228|dbVar:nssv15133035|dbVar:nssv17976904|dbVar:nssv15142015|dbVar:nssv15153182|dbVar:nssv15153183|dbVar:nssv15133261|dbVar:nssv15124226|dbVar:nssv15132100|nssv15139544|dbVar:nssv15127168|dbVar:nssv15133024|dbVar:nssv17955818|HI3:ISCA-37432|dbVar:nssv15149164|dbVar:nssv15129143|dbVar:nssv15130784|nssv15172799|dbVar:nssv15173493|dbVar:nssv15131818|dbVar:nssv15135737|dbVar:nssv15135591|dbVar:nssv15134619;po_P_loss_coord=17:30572863-35843988|17:34360169-36248859|17:34360228-36473024|17:34447114-36283612|17:34450406-36248918|17:34463924-36410559|17:34475680-36283612|17:34475680-36311009|17:34477386-36404555|17:34508118-36173763|17:34604365-36188734|17:34611353-36248918|17:34750819-81048189|17:34768967-36263019|17:34807070-36284994|17:34815073-36192489|17:34815073-36192492|17:34815552-36208392|17:34815552-36244358|17:34815552-36307189|17:34817423-36168104|17:34817423-36188700|17:34817423-36248918|17:34817423-36263019;po_P_loss_percent=7.21|20.12|17.99|20.17|20.41|18.16|18.91|18.62|17.65|18.57|13.45|12.59|0.14|3.25|0.70|0.17|0.17|0.14|0.14|0.13|0.00|0.00|0.00|0.00;B_gain_source=dgv122e55,DDD:49237|DDD:49240|DDD:49243|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388,DDD:49237|DDD:49240|DDD:49243|DDD:49256|TS40:ISCA-46706|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388|nsv514837,DDD:49237|DDD:49240|DDD:49256|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388,DDD:49237|DDD:49240|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388,DDD:49240|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388|nsv514839,DDD:49240|dbVar|dgv122e55,dbVar|dgv122e55;B_gain_coord=17:34426246-34870708,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34435674-34621060|17:34436438-34780239|chr17:34438389-34594251|chr17:34438389-34666383|17:34443777-34537005|chr17:34480907-34594251|chr17:34480907-34674805,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34435674-34621060|17:34436438-34780239|chr17:34438389-34594251|chr17:34438389-34666383|17:34443777-34537005|chr17:34480907-34594251|chr17:34480907-34674805|chr17:34502750-34675848|17:34502930-34524195|17:34502941-34524192|17:34517741-34540630,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34435674-34621060|17:34436438-34780239|chr17:34438389-34594251|chr17:34438389-34666383|chr17:34480907-34594251|chr17:34480907-34674805|chr17:34502750-34675848|17:34517741-34540630,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34435674-34621060|17:34436438-34780239|chr17:34438389-34594251|chr17:34438389-34666383|chr17:34480907-34594251|chr17:34480907-34674805|chr17:34502750-34675848,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34436438-34780239|chr17:34438389-34666383|chr17:34480907-34674805|chr17:34502750-34675848|chr17:34594251-34657961|chr17:34594251-34674805|17:34610042-34641487,17:34426246-34870708|17:34436438-34780239|chr17:34726651-34808825,17:34426246-34870708|chr17:34726651-34808825|chr17:34758000-34809000|chr17:34768932-34808825;B_gain_AFmax=0.03,0.1041,0.1041,0.0994,0.0994,0.0994,0.0994,0.03;B_loss_source=.,DDD:49240|DDD:49243,DDD:49240|DDD:49243|DDD:49256|HI40:ISCA-46698|dgv545e199,DDD:49240|DDD:49256|HI40:ISCA-46698|dgv545e199,DDD:49240,DDD:49240|dgv546e199,DDD:49240,.;B_loss_coord=.,17:34436438-34780239|17:34443777-34537005,17:34436438-34780239|17:34443777-34537005|17:34508446-34554792|17:34509780-34551554|17:34517741-34540630,17:34436438-34780239|17:34508446-34554792|17:34509780-34551554|17:34517741-34540630,17:34436438-34780239,17:34436438-34780239|17:34591446-34670592,17:34436438-34780239,.;B_loss_AFmax=.,0.0982,0.15,0.15,0.0982,0.1,0.0982,.;B_inv_source=IMH;B_inv_coord=17:30436599-65922464|17:32367054-60556542|17:32367223-60556516|17:32367435-60556508;B_inv_AFmax=0.2252;po_B_gain_someG_source=chr17:34405281-34480907_dbVar|17:34416412-34496071_nsv514836|17:34424712-34477480_dgv908e212|17:34426246-34870708_dgv122e55|17:34435513-34485079_dgv3148n100|17:34435674-34621060_DDD:49237|17:34436100-34482872_1000g|17:34436100-34482872_dgv572e214|chr17:34437000-34494000_dbVar|17:34437483-34477480_dgv910e212|chr17:34438389-34594251_dbVar|17:34443777-34537005_DDD:49243|chr17:34480907-34594251_dbVar|chr17:34493000-34503000_dbVar|17:34502930-34524195_nsv514837|17:34517741-34540630_DDD:49256|17:34580927-34587273_DDD:49263|chr17:34594251-34674805_dbVar|17:34625755-34641426_DDD:49271|chr17:34726651-34808825_dbVar...;po_B_gain_someG_coord=17:34387632-34629696_esv2762388|chr17:34405281-34674805_dbVar|17:34416538-34629684_dgv3144n100|17:34425364-34477387_dgv121e55|17:34431132-34484342_DDD:49235|17:34435513-34629696_esv2760467|chr17:34436099-34482872_dbVar|17:34436100-34482872_1000g|17:34436438-34780239_DDD:49240|17:34437129-34485091_esv2421587|chr17:34438389-34480907_dbVar|chr17:34438389-34666383_dbVar|chr17:34448629-34449060_dbVar|chr17:34480907-34674805_dbVar|chr17:34502750-34675848_dbVar|17:34502941-34524192_TS40:ISCA-46706|17:34538648-34540293_nsv514838|chr17:34594251-34657961_dbVar|17:34610042-34641487_nsv514839|chr17:34725848-34756800_dbVar...;po_B_loss_someG_source=17:34438323-34449809_DDD:49242|chr17:34445826-34446140_dbVar|17:34508446-34554792_dgv545e199|17:34517741-34540630_DDD:49256|chr17:34540766-34540825_dbVar|17:34580927-34587273_DDD:49263|17:34625755-34641426_DDD:49271|chr17:34642332-34642392_dbVar|17:34702019-34702094_DDD:49280|17:34762644-34775639_DDD:49288|chr17:34812000-36251000_dbVar;po_B_loss_someG_coord=17:34436438-34780239_DDD:49240|17:34443777-34537005_DDD:49243|17:34446621-34447535_DDD:49246|17:34509780-34551554_HI40:ISCA-46698|chr17:34528205-34528314_dbVar|17:34540766-34540825_gnomAD-SV_v2.1_DEL_17_159956|17:34591446-34670592_dgv546e199|chr17:34629804-34629885_dbVar|17:34642332-34642392_gnomAD-SV_v2.1_DEL_17_159958|17:34750173-34796456_DDD:49284|chr17:34808750-34815000_dbVar;Cosmic_ID=650936|666192|914982|843056|871448|792583|651331|1008133|1008390|1008393|1008397|1008403|1008404|1008414|1008416|1008428|1008433|1008436|940419|987474|2208771|1314448|1320799|1505611|965332|831456|791549|1587115|878636|1428723|1966753|1241176|2242284|2563085|874577|1206030|1721282|2234627|1868520|2161178|2592993|823129|719980|897048|899422|920618|881956|607486|916148|602398|892138|...,.,.,.,.,.,.,885243;Cosmic_mut_typ=loss|gain,.,.,.,.,.,.,gain;GC_content_left=0.435;GC_content_right=0.515;Repeat_coord_left=17:34437545-34437861;Repeat_type_left=7SLRNA;SegDup_left=17:34405992-34437446|17:34405992-34437446;DDD_HI_percent=94.43,94.43,88.85,84.65,.,88.49,93.12,93.73;ExAC_synZ=2.42746656950142,2.42746656950142,.,1.02068766819866,.,.,.,1.8673923772413;ExAC_misZ=2.41694262394586,2.41694262394586,.,1.31010018701924,.,.,.,2.14567117504116;NCBI_gene_ID=.,414059,414062,9560,414059,6349,729877,84218;OMIM_morbid_candidate=yes,.,.,.,.,yes,.,.;LOEUF_bin=7,7,9,9,.,9,.,9;GnomAD_pLI=0.31517,0.21949,0.31517,0.088586,.,0.12057,.,1.3666e-05;ExAC_pLI=0.63692,0.63692,.,0.48994,.,.,.,0.62038;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|3A_(7_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1;END=34817481;SVLEN=380005 GT 1/. 17 44171889 . C . PASS AnnotSV_ID=17_44171889_44297143_DUP_1;SV_start=44171889;Biologist_ranking=Benign;Annotation_mode=full,split,split;CytoBand=q21.31;Gene_name=KANSL1|KANSL1-AS1,KANSL1,KANSL1-AS1;Closest_left=STH;Closest_right=ARL17B;Gene_count=2;Tx=.,NM_001193465,NR_034172;Tx_version=.,2,1;Tx_start=.,44107281,44270938;Tx_end=.,44302733,44274089;Overlapped_tx_length=.,125255,3151;Overlapped_CDS_length=.,1431,0;Overlapped_CDS_percent=.,43,0;Frameshift=.,no,no;Exon_count=.,16,2;Location=.,intron2-intron4,txStart-txEnd;Location2=.,5'UTR-CDS,UTR;Dist_nearest_SS=.,37,.;Nearest_SS_type=.,5',.;Intersect_start=.,44171888,44270938;Intersect_end=.,44297143,44274089;RE_gene=GOSR2_(morbid/RE=ABC_enhancer+GH_enhancer)|MAPT_(morbid/RE=ABC_enhancer)|NSF_(morbid/RE=EA_enhancer)|PLEKHM1_(morbid/RE=ABC_enhancer);po_P_gain_source=dbVar:nssv15149908|nssv15152170|dbVar:nssv15159024|dbVar:nssv15160732|dbVar:nssv15159027|dbVar:nssv15127236|dbVar:nssv15149626|dbVar:nssv15150382|dbVar:nssv16207328|dbVar:nssv15141990;po_P_gain_coord=17:527-81041938|17:7215-81058310|17:8548-81060040|17:12345-81057996|17:16757564-81048189|17:42580685-81085615|17:43655357-44292742|17:43655357-44784639|17:43710151-44292742;po_P_gain_percent=0.15|0.15|0.15|0.15|0.19|0.33|18.96|11.09|20.74;po_P_loss_phen=Koolen-De_Vries_syndrome,_610443_(3)_AD;po_P_loss_source=dbVar:nssv15127168|dbVar:nssv16215146|dbVar:nssv15141350|dbVar:nssv16254531|dbVar:nssv15124147|dbVar:nssv15135761|dbVar:nssv15137490|dbVar:nssv18330259|dbVar:nssv15129570|dbVar:nssv15138300|dbVar:nssv15137112|dbVar:nssv15132122|dbVar:nssv15132318|nssv15133093|dbVar:nssv15135170|dbVar:nssv15132284|nssv15139974|dbVar:nssv15136771|dbVar:nssv15136778|dbVar:nssv15132380|dbVar:nssv15173411|dbVar:nssv18329240|dbVar:nssv15133422|dbVar:nssv15143597|nssv15155552|dbVar:nssv15138826|dbVar:nssv15142266|nssv17976955|nssv18326376|dbVar:nssv15173506|dbVar:nssv15136011|dbVar:nssv15133428|dbVar:nssv15132370|nssv15140010|dbVar:nssv15132745|dbVar:nssv16091744|dbVar:nssv15135222|dbVar:nssv15161495|dbVar:nssv15129007|dbVar:nssv15152077|dbVar:nssv15132384|dbVar:nssv15136234|dbVar:nssv15132385|dbVar:nssv15133429|morbid:KANSL1|HI3:KANSL1|dbVar:nssv16252231;po_P_loss_coord=17:34750819-81048189|17:43559852-44248220|17:43585761-44248995|17:43586397-44212416|17:43592411-44249054|17:43593477-44224221|17:43622198-44201470|17:43622198-44212416|17:43629216-44399455|17:43648492-44214888|17:43651732-44351152|17:43653228-44351644|17:43655748-44176717|17:43655748-44224221|17:43655748-44351152|17:43656694-44176717|17:43656694-44694311|17:43675409-44351152|17:43685926-44212727|17:43693539-44212416|17:43693608-44176717|17:43703801-44212416|17:43703802-44187492|17:43703802-44212416|17:43705602-44208333|17:43706887-44171947|17:43706887-44176171|17:43706887-44176717|17:43706887-44207977|17:43706887-44210822|17:43706887-44351152|17:43706887-44694283|17:43706896-44762543|17:43710371-44212416|17:43715081-44176717|17:43717704-44345038|17:43717704-44351152|17:43751675-44351152|17:44107282-44302733|17:44107283-44302740|17:44174220-44481307;po_P_loss_percent=0.27|11.09|11.63|6.47|11.75|8.30|5.11|6.87|16.26|7.59|17.91|17.93|0.93|9.21|18.01|0.93|12.07|18.54|7.75|7.81|1.00|7.97|3.23|7.97|7.25|0.01|0.91|1.03|7.20|7.73|19.44|12.69|11.87|8.07|1.05|19.97|19.77|20.89|64.08|64.08|40.03;P_snvindel_nb=22,22,.;P_snvindel_phen=Inborn_genetic_diseases|Intellectual_disability|Koolen-de_Vries_syndrome|Neurodevelopmental_delay,Inborn_genetic_diseases|Intellectual_disability|Koolen-de_Vries_syndrome|Neurodevelopmental_delay,.;B_gain_source=DDD:49604|IMH|dbVar|dgv127e55|dgv128e55|dgv3181n100|esv2422002|esv2762433|nsv516807,DDD:49604|IMH|dbVar|dgv127e55|dgv128e55|dgv3181n100|esv2422002|esv2762433|nsv516807,DDD:49604|DDD:49608|DDD:49609|DDD:49611|DDD:49618|IMH|dbVar|dgv127e55|dgv128e55|dgv130e55|dgv3181n100|dgv367n27|dgv938e212|dgv939e212|dgv943e212|esv2422002|esv2760451|esv2762433|gnomAD-SV_v2.1_DUP_17_44188|nsv514850|nsv516807;B_gain_coord=17:43574135-44788194|17:43655786-44366714|17:44004973-44811116|17:44094472-44364056|17:44109475-44793283|chr17:44139347-44410871|17:44145590-44364158|chr17:44165250-44337661|chr17:44165250-44410871|17:44165804-44362009|17:44170038-44744285,17:43574135-44788194|17:43655786-44366714|17:44004973-44811116|17:44094472-44364056|17:44109475-44793283|chr17:44139347-44410871|17:44145590-44364158|chr17:44165250-44337661|chr17:44165250-44410871|17:44165804-44362009|17:44170038-44744285,17:43574135-44788194|17:43655786-44366714|17:44004973-44811116|17:44094472-44364056|17:44109475-44793283|chr17:44139347-44410871|17:44145590-44364158|17:44163926-44293020|chr17:44165250-44337661|chr17:44165250-44410871|17:44165703-44291551|17:44165804-44362009|17:44170038-44744285|17:44175518-44443972|17:44176859-44397890|17:44187493-44292742|17:44187493-44364056|17:44187493-44789621|17:44194107-44762405|17:44208145-44764994|chr17:44208362-44406622|chr17:44208362-44787272|17:44212647-44369642|chr17:44212745-44369562|17:44212745-44369562|17:44212825-44276618|17:44249111-44320939;B_gain_AFmax=0.17,0.17,0.5406;B_loss_source=esv2762433,esv2762433,DDD:49609|DDD:49611|dgv940e212|dgv941e212|esv2760451|esv2762433;B_loss_coord=17:43574135-44788194,17:43574135-44788194,17:43574135-44788194|17:44176859-44397890|17:44190672-44785015|17:44194107-44762405|17:44208145-44764994|17:44212311-44292742;B_loss_AFmax=0.07,0.07,0.2994;B_inv_source=IMH;B_inv_coord=17:30436599-65922464|17:32367054-60556542|17:32367223-60556516|17:32367435-60556508|17:43662689-44338152|17:43664434-44336296|17:43681870-44318931,17:30436599-65922464|17:32367054-60556542|17:32367223-60556516|17:32367435-60556508|17:43662689-44338152|17:43664434-44336296|17:43681870-44318931,17:30436599-65922464|17:32367054-60556542|17:32367223-60556516|17:32367435-60556508|17:43662689-44338152|17:43664434-44336296|17:43681870-44318931|17:43702611-44296817;B_inv_AFmax=0.2252;po_B_gain_someG_source=17:43655786-44366714_IMH|17:44094472-44364056_dgv128e55|chr17:44139347-44410871_dbVar|17:44149791-44248860_DDD:49602|chr17:44165000-44217000_dbVar|chr17:44165250-44337661_dbVar|chr17:44165338-44211686_dbVar|17:44165339-44211686_1000g|17:44165703-44291551_nsv514850|17:44170038-44744285_DDD:49604|17:44175518-44443972_DDD:49608|17:44176859-44397890_DDD:49609|17:44187493-44292742_dgv938e212|17:44187493-44789621_dgv939e212|17:44208145-44764994_esv2760451|chr17:44208362-44787272_dbVar|17:44212647-44369642_IMH|17:44212745-44369562_gnomAD-SV_v2.1_DUP_17_44188|17:44223908-44224221_1000g|chr17:44224197-44224935_dbVar...;po_B_gain_someG_coord=17:43574135-44788194_esv2762433|17:44004973-44811116_dgv127e55|17:44109475-44793283_nsv516807|17:44145590-44364158_dgv3181n100|17:44163926-44293020_dgv367n27|17:44165000-44217000_gnomAD-SV_v2.1_DUP_17_44187|chr17:44165250-44410871_dbVar|17:44165339-44211686_1000g|17:44165339-44211686_dgv575e214|17:44165804-44362009_esv2422002|17:44170285-44212803_DDD:49606|17:44176395-44176717_1000g|17:44187493-44214094_dgv937e212|17:44187493-44364056_dgv130e55|17:44194107-44762405_DDD:49611|chr17:44208362-44406622_dbVar|17:44209763-44267388_DDD:49612|chr17:44212745-44369562_dbVar|17:44212825-44276618_dgv943e212|chr17:44223933-44224949_dbVar...;po_B_loss_someG_source=17:44170285-44212803_DDD:49606|chr17:44176395-44176717_dbVar|chr17:44176407-44176807_dbVar|17:44176859-44397890_DDD:49609|17:44190672-44785015_dgv940e212|chr17:44192997-44193064_dbVar|17:44208145-44764994_esv2760451|chr17:44223760-44224221_dbVar|17:44223908-44224221_1000g|17:44223908-44224221_esv2662030|chr17:44265262-44265312_dbVar|;po_B_loss_someG_coord=17:43574135-44788194_esv2762433|17:44176395-44176717_1000g|17:44176395-44176717_esv2675570|17:44176407-44176807_gnomAD-SV_v2.1_DEL_17_160649|chr17:44179666-44182382_dbVar|chr17:44192422-44192507_dbVar|17:44194107-44762405_DDD:49611|17:44212311-44292742_dgv941e212|17:44223760-44224221_gnomAD-SV_v2.1_DEL_17_160652|chr17:44223908-44224221_dbVar|chr17:44256597-44256681_dbVar|chr17:44278890-44279167_dbVar;Cosmic_ID=992416|992452|992460|971439|2822283|936188|699111|763559|763560|1997544|2228707|2896576|3037823|1274013|2348966|933569|2715621|989025|2410443|70215|987476|453497|942828|2644184|1145788|1665693|1853738|2618991|2839546|2972078|2976287|688566|1021567|1021568|663556|1248933|3054208|1140557|1022169|2074112|2606291|1357512|1134448|2027524|2282991|667879|670841|2478215|2750031|3067029|468614|...,992416|992452|992460|971439|2822283|936188|699111|763559|763560|1997544|2228707|2896576|3037823|1274013|2348966|933569|2715621|989025|2410443|70215|987476|453497|942828|2644184|1145788|1665693|1853738|2618991|2839546|2972078|2976287|688566|1021567|1021568|663556|1248933|3054208|1140557|1022169|2074112|2606291|1357512|1134448|2027524|2282991|667879|670841|2478215|2750031|3067029|468614|...,.;Cosmic_mut_typ=loss|gain,loss|gain,.;GC_content_left=0.38;GC_content_right=0.46;Repeat_coord_right=17:44297188-44297495;Repeat_type_right=AluY;SegDup_left=17:44164882-44183555;SegDup_right=17:44294406-44329730;HI=3,3,.;TS=.,0,.;DDD_HI_percent=16.23,16.23,.;ExAC_synZ=-0.71959827485963,-0.71959827485963,.;ExAC_misZ=0.443929223699058,0.443929223699058,.;GenCC_disease=.,Koolen-de_Vries_syndrome|Koolen-de_Vries_syndrome_due_to_a_point_mutation,.;GenCC_moi=.,AD,.;GenCC_classification=.,Definitive|Strong|Supportive,.;GenCC_pmid=.,22544363|22544363[PMID]_22544367[PMID]_20301783[PMID]|22544367,.;NCBI_gene_ID=.,284058,644246;OMIM_ID=612452,612452,.;OMIM_phenotype=.,Koolen-De_Vries_syndrome,_610443_(3)_AD,.;OMIM_inheritance=.,AD,.;OMIM_morbid=yes,yes,.;LOEUF_bin=0,0,.;GnomAD_pLI=0.99972,0.99972,.;ExAC_pLI=0.99973,0.99973,.;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2E_(cf_B_gain_source,_+0.00)|2I-3_(KANSL1,_+0.00)|3A_(2_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1;END=44297143;SVLEN=125254 GT 1/. -22 18894836 . C . PASS AnnotSV_ID=22_18894836_21464119_DEL_1;SV_start=18894836;Biologist_annotation=Di_George_syndrom;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q11.21;Gene_name=DGCR6|PRODH|LOC122455341|DGCR5|FAM246C|DGCR2|DGCR11|ESS2|TSSK2|GSC2|LINC01311|SLC25A1|CLTCL1|HIRA|MRPL40|C22orf39|UFD1|CDC45|CLDN5|LINC00895|SEPTIN5|SEPT5-GP1BB|GP1BB|TBX1|GNB1L|RTL10|TXNRD2|COMT|MIR4761|ARVCF|TANGO2|MIR185|DGCR8|MIR3618|MIR1306|TRMT2A|MIR6816|RANBP1|SNORA77B|ZDHHC8|CCDC188|LINC02891|LINC00896|RTN4R|MIR1286|DGCR6L|FAM230A|GGTLC3|TMEM191B|PI4KAP1|RIMBP3|FAM246B|FAM230J|FAM230G|ZNF74|SCARF2|KLHL22|MED15|POM121L4P|TMEM191A|PI4KA|SERPIND1|SNAP29|CRKL|LINC01637|AIFM3|LZTR1|THAP7|THAP7-AS1|TUBA3FP|P2RX6|SLC7A4|MIR649|P2RX6P|LRRC74B|BCRP2,DGCR6,PRODH,LOC122455341,DGCR5,FAM246C,DGCR2,DGCR11,ESS2,TSSK2,GSC2,LINC01311,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1,CDC45,CLDN5,LINC00895,SEPTIN5,SEPT5-GP1BB,GP1BB,TBX1,GNB1L,RTL10,TXNRD2,COMT,MIR4761,ARVCF,TANGO2,MIR185,DGCR8,MIR3618,MIR1306,TRMT2A,MIR6816,RANBP1,SNORA77B,ZDHHC8,CCDC188,LINC02891,LINC00896,RTN4R,MIR1286,DGCR6L,FAM230A,GGTLC3,TMEM191B,PI4KAP1,RIMBP3,FAM246B,FAM230J,FAM230G,ZNF74,SCARF2,KLHL22,MED15,POM121L4P,TMEM191A,PI4KA,SERPIND1,SNAP29,CRKL,LINC01637,AIFM3,LZTR1,THAP7,THAP7-AS1,TUBA3FP,P2RX6,SLC7A4,MIR649,P2RX6P,LRRC74B,BCRP2;Closest_left=FAM230F;Closest_right=LOC102724728;Gene_count=76;Tx=.,NM_005675,NM_016335,NR_173081,NR_110533,NM_001396027,NM_005137,NR_024157,NM_022719,NM_053006,NM_005315,NR_103767,NM_001256534,NM_007098,NM_003325,NM_003776,NM_173793,NM_005659,NM_001178010,NM_001130861,NR_024381,NM_002688,NR_037611,NM_000407,NM_001379200,NM_053004,NM_024627,NM_006440,NM_000754,NR_039918,NM_001670,NM_001322141,NR_029706,NM_022720,NR_037412,NR_031706,NM_001331039,NR_106874,NM_001278639,NR_145765,NM_001185024,NM_001365892,NR_038460,NR_026919,NM_023004,NR_031618,NM_033257,NR_165629,NM_001355479,NM_001242313,NR_003563,NM_015672,NM_001396026,NR_136569,NR_165637,NM_001256524,NM_153334,NM_032775,NM_001003891,NR_024592,NR_026815,NM_058004,NM_000185,NM_004782,NM_005207,NR_110537,NM_144704,NM_006767,NM_030573,NR_027051,NR_003608,NM_001394691,NM_004173,NR_030379,NR_002829,NM_001291006,NR_037566;Tx_version=.,6,6,1,2,1,3,1,3,5,2,1,2,4,4,4,5,7,2,1,1,6,1,5,1,3,6,5,4,1,3,2,1,7,1,1,2,1,2,1,2,2,2,1,6,1,4,1,1,1,1,2,1,2,1,2,7,4,3,1,1,4,4,4,4,1,3,4,3,1,1,1,3,1,1,2,1;Tx_start=.,18893832,18900293,18926981,18957980,19017036,19023798,19033674,19117791,19118820,19134505,19159218,19163093,19166985,19318220,19420067,19428408,19437433,19467348,19510546,19553652,19702025,19704742,19711061,19748300,19770745,19833668,19863044,19929294,19951275,19957418,20008632,20020661,20067763,20073268,20073580,20099397,20102208,20103626,20113924,20119326,20135938,20186251,20193854,20228937,20236656,20301760,20326419,20366210,20377668,20383730,20455681,20483850,20632119,20689194,20748440,20778873,20795805,20861896,21043842,21055401,21061978,21128400,21213294,21271694,21311379,21319459,21336585,21353392,21356210,21362491,21369453,21383006,21388464,21396680,21400234,21457304;Tx_end=.,18899601,18923806,18935206,19018755,19017734,19109925,19035888,19132164,19120135,19137805,19160345,19166018,19279242,19419256,19423598,19435234,19466716,19508135,19512860,19554362,19710842,19712297,19712294,19754857,19842397,19842397,19929341,19957498,19951357,20004346,20054687,20020743,20099395,20073356,20073665,20104749,20102274,20114878,20114049,20135530,20138578,20192441,20196060,20255841,20236734,20307583,20350461,20368028,20380440,20398695,20461786,20484549,20656858,20706786,20762745,20792112,20850082,20941906,21046009,21058891,21213099,21142008,21245502,21308035,21318968,21335647,21353321,21356407,21364663,21368576,21382297,21386850,21388561,21398538,21418457,21476575;Overlapped_tx_length=.,4766,23513,8225,60775,698,86127,2214,14373,1315,3300,1127,2925,112257,101036,3531,6826,29283,40787,2314,710,8817,7555,1233,6557,71652,8729,66297,28204,82,46928,46055,82,31632,88,85,5352,66,11252,125,16204,2640,6190,2206,26904,78,5823,24042,1818,2772,14965,6105,699,24739,17592,14305,13239,54277,80010,2167,3490,151121,13608,32208,36341,7589,16188,16736,3015,8453,6085,12844,3844,97,1858,18223,6815;Overlapped_CDS_length=.,392,1803,0,0,696,1653,0,1431,1077,618,0,957,4923,3054,621,318,924,1797,912,0,1110,0,621,1515,984,1095,1575,816,0,2889,1110,0,2322,0,0,1932,0,837,0,2337,1209,0,0,1422,0,663,0,678,1041,0,4920,699,0,0,1935,2607,1905,2367,0,0,6309,1500,777,912,0,1818,2523,930,0,0,1422,1908,0,0,1179,0;Overlapped_CDS_percent=.,59,100,0,0,100,100,0,100,88,100,0,100,100,100,100,100,100,100,52,0,100,0,100,100,100,82,100,100,0,100,100,0,100,0,0,100,0,100,0,100,100,0,0,100,0,100,0,100,100,0,91,100,0,0,100,100,100,100,0,0,100,100,100,100,0,100,100,100,0,0,100,100,0,0,100,0;Frameshift=.,yes,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,5,14,2,6,3,10,1,10,1,3,1,8,33,25,4,3,12,20,1,1,12,12,2,7,8,3,18,6,1,20,9,1,14,1,1,12,1,6,1,11,9,4,1,2,1,5,12,6,9,15,1,1,9,7,6,14,7,18,1,8,55,5,5,3,2,21,21,4,2,3,12,5,1,2,10,6;Location=.,intron2-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-intron1;Location2=.,CDS-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR;Dist_nearest_SS=.,597,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,6098;Nearest_SS_type=.,5',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3';Intersect_start=.,18894835,18900293,18926981,18957980,19017036,19023798,19033674,19117791,19118820,19134505,19159218,19163093,19166985,19318220,19420067,19428408,19437433,19467348,19510546,19553652,19702025,19704742,19711061,19748300,19770745,19833668,19863044,19929294,19951275,19957418,20008632,20020661,20067763,20073268,20073580,20099397,20102208,20103626,20113924,20119326,20135938,20186251,20193854,20228937,20236656,20301760,20326419,20366210,20377668,20383730,20455681,20483850,20632119,20689194,20748440,20778873,20795805,20861896,21043842,21055401,21061978,21128400,21213294,21271694,21311379,21319459,21336585,21353392,21356210,21362491,21369453,21383006,21388464,21396680,21400234,21457304;Intersect_end=.,18899601,18923806,18935206,19018755,19017734,19109925,19035888,19132164,19120135,19137805,19160345,19166018,19279242,19419256,19423598,19435234,19466716,19508135,19512860,19554362,19710842,19712297,19712294,19754857,19842397,19842397,19929341,19957498,19951357,20004346,20054687,20020743,20099395,20073356,20073665,20104749,20102274,20114878,20114049,20135530,20138578,20192441,20196060,20255841,20236734,20307583,20350461,20368028,20380440,20398695,20461786,20484549,20656858,20706786,20762745,20792112,20850082,20941906,21046009,21058891,21213099,21142008,21245502,21308035,21318968,21335647,21353321,21356407,21364663,21368576,21382297,21386850,21388561,21398538,21418457,21464119;RE_gene=ABL1_(morbid/RE=mTL_miRNA)|ACTN4_(morbid/RE=mTL_miRNA)|ACVR2B_(morbid/RE=mTL_miRNA)|ADA2_(morbid/RE=ABC_enhancer)|ADAR_(morbid/RE=mTL_miRNA)|ADH5_(morbid/RE=mTL_miRNA)|AFF2_(HI=3/morbid/RE=mTL_miRNA)|AGO1_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AHI1_(morbid/RE=mTL_miRNA)|AKR1A1_(morbid/RE=mTL_miRNA)|AKT1_(morbid/RE=mTL_miRNA)|ALG1_(morbid/RE=mTL_miRNA)|AMH_(morbid/RE=mTL_miRNA)|APCDD1_(morbid/RE=mTL_miRNA)|APEX1_(morbid/RE=mTL_miRNA)|AR_(HI=3/morbid/RE=mTL_miRNA)|ARID1A_(HI=3/morbid/RE=mTL_miRNA)|ASH1L_(HI=3/morbid/RE=mTL_miRNA)|ATAD5_(morbid/RE=mTL_miRNA)|ATM_(HI=3/morbid/RE=mTL_miRNA)|ATP6AP1_(morbid/RE=mTL_miRNA)|ATP6V0A2_(morbid/RE=mTL_miRNA)|ATP6V1E1_(morbid/RE=ABC_enhancer)|ATR_(morbid/RE=mTL_miRNA)|B4GALT1_(morbid/RE=mTL_miRNA)|BACH1_(morbid/RE=mTL_miRNA)|BAP1_(HI=3/morbid/RE=mTL_miRNA)|BBS5_(morbid/RE=mTL_miRNA)|BCL10_(morbid/RE=mTL_miRNA)|BMPR1A_(HI=3/morbid/RE=mTL_miRNA)|BNC2_(morbid/RE=mTL_miRNA)|BRD4_(morbid/RE=mTL_miRNA)|BTG2_(morbid/RE=mTL_miRNA)|C3_(morbid/RE=mTL_miRNA)|CACNA1C_(morbid/RE=mTL_miRNA)|CAD_(morbid/RE=mTL_miRNA)|CALM3_(morbid/RE=mTL_miRNA)|CAPN15_(morbid/RE=mTL_miRNA)|CASP14_(morbid/RE=mTL_miRNA)|CBL_(morbid/RE=mTL_miRNA)|CCDC134_(morbid/RE=mTL_miRNA)|CCND2_(morbid/RE=mTL_miRNA)|CCNQ_(morbid/RE=mTL_miRNA)|CDC42_(morbid/RE=mTL_miRNA)|CDKN1A_(morbid/RE=mTL_miRNA)|CEP104_(morbid/RE=mTL_miRNA)|CERS1_(morbid/RE=mTL_miRNA)|CHRDL1_(HI=3/morbid/RE=mTL_miRNA)|CLCC1_(morbid/RE=mTL_miRNA)...;P_gain_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-B)_(includes_TBX1);P_gain_source=TS3:ISCA-37433|dbVar:nssv15121202|dbVar:nssv15132168|dbVar:nssv15132429|dbVar:nssv15132430|dbVar:nssv15132553|dbVar:nssv15132642|nssv15139997|dbVar:nssv15132749|dbVar:nssv15133139|dbVar:nssv15133442|dbVar:nssv15133527|dbVar:nssv15133528|dbVar:nssv15133531|dbVar:nssv15133921|dbVar:nssv15134211|dbVar:nssv15134239|dbVar:nssv15134353|dbVar:nssv15136015|dbVar:nssv15137439|dbVar:nssv15138177|dbVar:nssv15138869|dbVar:nssv15140282|dbVar:nssv15141369|dbVar:nssv15153269|dbVar:nssv15156361|dbVar:nssv15605811|dbVar:nssv15605831|dbVar:nssv15605876|dbVar:nssv15755816|dbVar:nssv16207465|dbVar:nssv16736612|dbVar:nssv16736616|dbVar:nssv18830899|dbVar:nssv18830992;P_gain_coord=22:18894836-20311784|22:18894836-21461752|22:18894836-21464119|22:18896973-21440514|22:18900756-21075586|22:18908833-21358123|22:18909039-21440514|22:18909045-21464119|22:18912232-20287208|22:18912515-21431174|22:18916828-21050078|22:18916829-20312661|22:18916843-20311810|22:18916843-20311858|22:18916843-20312661|22:18919943-20311763|22:18919943-20659606|22:18919943-20708934|22:18919943-21440514|22:18923899-21431174|22:18937381-21459713|22:18938162-21455556|22:18950767-21455556|22:18970562-21040836|22:18973253-21435405|22:19168759-20942862|22:20895156-21374512|22:20958985-21379958|22:21044197-21440455|22:21045039-21455556|22:21065883-21440455|22:21081261-21440455|22:21086707-21445960|22:21300291-21331188;P_loss_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-B)_(includes_TBX1)|Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR|Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome,_609528_(3)_AR|Combined_D-2-_and_L-2-hydroxyglutaric_aciduria,_615182_(3)_AR|Myasthenic_syndrome,_congenital,_23,_presynaptic,_618197_(3)_AR|Conotruncal_anomaly_face_syndrome,_217095_(3)|DiGeorge_syndrome,_188400_(3)_AD|Tetralogy_of_Fallot,_187500_(3)_AD|Velocardiofacial_syndrome,_192430_(3)_AD|Gastrointestinal_defects_and_immunodeficiency_syndrome_2,_619708_(3)_AR|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,_616531_(3)_AR|Spastic_paraplegia_84,_AR,_619621_(3)_AR|Hyperprolinemia,_type_I,_239500_(3)_AR|Schizophrenia,_susceptibility_to,_4,_600850_(3)_AD|Metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration,_616878_(3)_AR|Noonan_syndrome_10,_616564_(3)_AD|Noonan_syndrome_2,_605275_(3)_AR|Schwannomatosis-2,_susceptibility_to,_615670_(3)_AD|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Cardiac_arrhythmia|Seizure|Acute_rhabdomyolysis|Episodic_flaccid_weakness|Intellectual_disability|Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD|Van_den_Ende-Gupta_syndrome,_600920_(3)_AR||DiGeorge_syndrome,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR,Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR,Conotruncal_anomaly_face_syndrome,_217095_(3)|DiGeorge_syndrome,_188400_(3)_AD|Tetralogy_of_Fallot,_187500_(3)_AD|Velocardiofacial_syndrome,_192430_(3)_AD||DiGeorge_syndrome,.,.,.,.,.,.,Metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration,_616878_(3)_AR|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Cardiac_arrhythmia|Seizure|Acute_rhabdomyolysis|Episodic_flaccid_weakness|Intellectual_disability,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Van_den_Ende-Gupta_syndrome,_600920_(3)_AR,.,.,.,.,Gastrointestinal_defects_and_immunodeficiency_syndrome_2,_619708_(3)_AR|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,_616531_(3)_AR|Spastic_paraplegia_84,_AR,_619621_(3)_AR|Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD,Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD,Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome,_609528_(3)_AR,.,.,.,Noonan_syndrome_10,_616564_(3)_AD|Noonan_syndrome_2,_605275_(3)_AR|Schwannomatosis-2,_susceptibility_to,_615670_(3)_AD,.,.,.,.,.,.,.,.,.;P_loss_hpo=HP:0000730|HP:0001249|HP:0001250|HP:0001267|HP:0001275|HP:0001286|HP:0001303|HP:0001656|HP:0001661|HP:0001665|HP:0001666|HP:0001687|HP:0001721|HP:0002122|HP:0002125|HP:0002182|HP:0002192|HP:0002279|HP:0002306|HP:0002316|HP:0002348|HP:0002382|HP:0002386|HP:0002391|HP:0002402|HP:0002417|HP:0002430|HP:0002431|HP:0002432|HP:0002434|HP:0002437|HP:0002458|HP:0002466|HP:0002479|HP:0002482|HP:0002499|HP:0002543|HP:0002794|HP:0003752|HP:0003767|HP:0004351|HP:0005158|HP:0006833|HP:0006997|HP:0007154|HP:0007176|HP:0007180|HP:0008942|HP:0010520|HP:0011675,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,HP:0000730|HP:0001249|HP:0001250|HP:0001267|HP:0001275|HP:0001286|HP:0001303|HP:0001656|HP:0001661|HP:0001665|HP:0001666|HP:0001687|HP:0001721|HP:0002122|HP:0002125|HP:0002182|HP:0002192|HP:0002279|HP:0002306|HP:0002316|HP:0002348|HP:0002382|HP:0002386|HP:0002391|HP:0002402|HP:0002417|HP:0002430|HP:0002431|HP:0002432|HP:0002434|HP:0002437|HP:0002458|HP:0002466|HP:0002479|HP:0002482|HP:0002499|HP:0002543|HP:0002794|HP:0003752|HP:0003767|HP:0004351|HP:0005158|HP:0006833|HP:0006997|HP:0007154|HP:0007176|HP:0007180|HP:0008942|HP:0010520|HP:0011675,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_source=CLN:226591|CLN:2871255|CLN:959024|HI3:ISCA-37433|dbVar:nssv15119864|dbVar:nssv15120710|dbVar:nssv15124351|dbVar:nssv15124515|dbVar:nssv15129189|dbVar:nssv15130834|dbVar:nssv15130929|dbVar:nssv15131088|dbVar:nssv15131611|dbVar:nssv15132323|nssv15139981|dbVar:nssv15132334|dbVar:nssv15132747|dbVar:nssv15132748|dbVar:nssv15132933|dbVar:nssv15132934|dbVar:nssv15132935|dbVar:nssv15132939|dbVar:nssv15133099|dbVar:nssv15133185|dbVar:nssv15133186|dbVar:nssv15133443|dbVar:nssv15133817|dbVar:nssv15134350|nssv15139984|dbVar:nssv15134354|dbVar:nssv15134360|dbVar:nssv15134361|dbVar:nssv15134635|dbVar:nssv15134703|dbVar:nssv15134820|dbVar:nssv15134849|dbVar:nssv15136233|dbVar:nssv15137726|dbVar:nssv15137759|dbVar:nssv15137802|dbVar:nssv15138106|dbVar:nssv15138475|dbVar:nssv15139405|dbVar:nssv15139434|dbVar:nssv15139445|nssv15774763|dbVar:nssv15139759|dbVar:nssv15140043|dbVar:nssv15140048|dbVar:nssv15140057|dbVar:nssv15141198|dbVar:nssv15141722|dbVar:nssv15142496|dbVar:nssv15143197|dbVar:nssv15143645|dbVar:nssv15144279|dbVar:nssv15144449|dbVar:nssv15153165|dbVar:nssv15154011|dbVar:nssv15155693|dbVar:nssv15156360|dbVar:nssv15162020|dbVar:nssv15162021|dbVar:nssv15605807|dbVar:nssv15605829|dbVar:nssv15605830|nssv16216546|dbVar:nssv15605834|dbVar:nssv15755310|dbVar:nssv15755712|dbVar:nssv15755812|dbVar:nssv15770037|dbVar:nssv15770783|dbVar:nssv15770877|dbVar:nssv15772938|nssv15773614|nssv15775115|nssv15775184|nssv15775592|dbVar:nssv15772982|dbVar:nssv15775129|dbVar:nssv15776509|dbVar:nssv15776863|dbVar:nssv15776865|dbVar:nssv15776871|dbVar:nssv16208595|dbVar:nssv16208596|dbVar:nssv16212111|dbVar:nssv16213307|dbVar:nssv16213808|dbVar:nssv16214784|dbVar:nssv16215255|dbVar:nssv16215257|dbVar:nssv16216543|dbVar:nssv16216544|nssv8639845|nssv15161831|dbVar:nssv16254574|dbVar:nssv16254739|dbVar:nssv16255831|dbVar:nssv16736634|dbVar:nssv17171460|nssv17974163|dbVar:nssv17171461|dbVar:nssv17171462|dbVar:nssv17171559|dbVar:nssv17171582|dbVar:nssv17171772|dbVar:nssv17649936|dbVar:nssv17649973|dbVar:nssv17955605|dbVar:nssv17955606|dbVar:nssv17955868|dbVar:nssv17970829|dbVar:nssv17971092|dbVar:nssv17971094|dbVar:nssv17971356|dbVar:nssv17971399|dbVar:nssv17977042|dbVar:nssv18329601|dbVar:nssv18329824|dbVar:nssv18330264|dbVar:nssv18330322|dbVar:nssv18330820|dbVar:nssv18786380|dbVar:nssv18790095|dbVar:nssv18792883|dbVar:nssv18841927|nssv18830898|dbVar:nssv8639589|nssv15122532|morbid:GP1BB|morbid:LZTR1|morbid:PI4KA|morbid:PRODH|morbid:SCARF2|morbid:SERPIND1|morbid:SLC25A1|morbid:SNAP29|morbid:TANGO2|morbid:TBX1,.,dbVar:nssv17649973|dbVar:nssv17971399,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar:nssv15124515,.,.,.,dbVar:nssv17977042|morbid:GP1BB,dbVar:nssv17977042|morbid:GP1BB,CLN:959024|morbid:TBX1,.,.,.,.,.,.,CLN:226591|dbVar:nssv15770877|dbVar:nssv15772938|nssv15773614|nssv15775115|nssv15775184|nssv15775592|dbVar:nssv15772982|dbVar:nssv15775129|dbVar:nssv16216543|dbVar:nssv17171772|dbVar:nssv17971094|dbVar:nssv18790095|dbVar:nssv8639589|nssv15122532|morbid:TANGO2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,morbid:SCARF2,.,.,.,.,morbid:PI4KA|morbid:SERPIND1,morbid:SERPIND1,morbid:SNAP29,.,.,.,CLN:2871255|dbVar:nssv17171582|dbVar:nssv17971092|morbid:LZTR1,.,.,.,.,.,.,.,.,.;P_loss_coord=22:18894836-20238206|22:18894836-20311763|22:18894836-20659606|22:18894836-21440514|22:18894836-21461752|22:18894836-21461811|22:18894836-21464119|22:18896973-20311763|22:18896973-21382953|22:18896973-21440514|22:18899288-18925066|22:18900294-18924066|22:18900295-18923806|22:18900443-21440514|22:18900669-18923820|22:18900669-19747220|22:18900669-19770565|22:18900689-21351637|22:18900896-18923882|22:18901005-21408430|22:18905110-19015451|22:18910311-18923800|22:18910311-18923820|22:18910311-19770565|22:18912232-20287208|22:18912404-21431174|22:18912871-21431174|22:18915348-21463730|22:18916828-20311858|22:18916829-20312661|22:18916829-21041014|22:18916829-21049800|22:18916843-19004772|22:18916843-20310938|22:18916843-20311858|22:18916843-20312661|22:18916843-20716903|22:18916843-20767095|22:18916843-21011216|22:18916843-21033371|22:18916843-21075592|22:18916844-20311858|22:18916844-21033401|22:18916844-21075592|22:18918742-20311922|22:18919580-21460595|22:18919943-20311763|22:18919943-20659606|22:18919943-20708934|22:18919943-21025713|22:18919943-21440514|22:18922152-21449911|22:18938162-20229017|22:18938162-20996250|22:18938162-21455556|22:18962314-21455556|22:18973253-21435405|22:18999804-21455499|22:18999804-21455556|22:19016664-21463730|22:19023802-21440455|22:19023802-21440514|22:19035018-21461811|22:19035324-21464119|22:19036287-21208284|22:19058830-21440514|22:19156118-19529130|22:19163094-19166249|22:19163624-19770565|22:19184001-21416024|22:19336599-21208828|22:19470352-19481849|22:19647906-21153690|22:19709401-21142058|22:19709436-19712313|22:19709952-19963280|22:19710419-21142058|22:19711062-19712294|22:19711829-19711877|22:19743227-19755855|22:19743425-19747210|22:19743425-19754400|22:19743425-19770565|22:19743474-19747220|22:19747168-19754390|22:19748301-19754857|22:19748451-19748647|22:20008633-20054687|22:20027161-20063237|22:20028564-20053554|22:20028990-20062723|22:20028993-20062955|22:20029136-20062954|22:20029701-20062756|22:20030823-20041691|22:20030823-20053554|22:20030859-20052185|22:20030879-20049206|22:20030879-20052185|22:20036383-20045782|22:20036384-20045781|22:20036385-20045784|22:20039969-20043556|22:20708891-21407690|22:20718171-21427936|22:20733496-21463730|22:20745763-21460658|22:20754408-21440515|22:20754408-21457610|22:20754423-21461752|22:20778874-20792112|22:20921343-21459713|22:21061979-21213099|22:21062169-21463730|22:21062567-21463730|22:21065883-21455556|22:21067570-21414817|22:21069074-21463730|22:21074921-21440514|22:21075576-21454721|22:21081285-21457610|22:21128401-21142008|22:21213295-21245502|22:21335907-21346541|22:21336586-21353321|22:21336662-21337398|22:21336662-21351637|22:21348908-21348985,.,22:18900295-18923806|22:18910311-18923800,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,22:19470352-19481849,.,.,.,22:19711062-19712294|22:19711829-19711877,22:19711062-19712294|22:19711829-19711877,22:19748301-19754857|22:19748451-19748647,.,.,.,.,.,.,22:20008633-20054687|22:20028564-20053554|22:20030823-20041691|22:20030823-20053554|22:20030859-20052185|22:20030879-20049206|22:20030879-20052185|22:20036383-20045782|22:20036384-20045781|22:20036385-20045784|22:20039969-20043556,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,22:20778874-20792112,.,.,.,.,22:21061979-21213099|22:21128401-21142008,22:21128401-21142008,22:21213295-21245502,.,.,.,22:21336586-21353321|22:21336662-21337398|22:21336662-21351637|22:21348908-21348985,.,.,.,.,.,.,.,.,.;P_ins_source=CLN:1349334|dbVar:nssv17974796,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,CLN:1349334|dbVar:nssv17974796,.,.,.,.,.,.,.,.,.;P_ins_coord=22:21337344-21337343|22:21337344-21337456,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,22:21337344-21337343|22:21337344-21337456,.,.,.,.,.,.,.,.,.;po_P_gain_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-D)_(includes_TBX1);po_P_gain_source=dbVar:nssv15161990|dbVar:nssv15139753|dbVar:nssv15150031|dbVar:nssv15150491|dbVar:nssv15146973|dbVar:nssv15135173|dbVar:nssv15137211|dbVar:nssv15129128|dbVar:nssv15161991|dbVar:nssv15161992|dbVar:nssv15164031|dbVar:nssv16254742|dbVar:nssv16297047|dbVar:nssv15151140|nssv16207460|dbVar:nssv15141953|dbVar:nssv15156366|nssv15772157|dbVar:nssv17976875|dbVar:nssv16207463|dbVar:nssv16296938|dbVar:nssv16207464|dbVar:nssv15774756|dbVar:nssv18329565|dbVar:nssv15149512|nssv15150794|dbVar:nssv15139758|dbVar:nssv15755803|dbVar:nssv15774287|dbVar:nssv15605979|dbVar:nssv15139756|dbVar:nssv15605980|dbVar:nssv15137771|dbVar:nssv15132295|dbVar:nssv15133039|dbVar:nssv15133301|dbVar:nssv15132518|dbVar:nssv15134365|dbVar:nssv15146613|dbVar:nssv15133111|dbVar:nssv15147269|dbVar:nssv15121201|dbVar:nssv15136264|dbVar:nssv15605803|dbVar:nssv15605804|dbVar:nssv16736606|dbVar:nssv15128891|dbVar:nssv15126571|dbVar:nssv15128500|dbVar:nssv16254735|dbVar:nssv15140068|dbVar:nssv15137505|dbVar:nssv15128758|dbVar:nssv15152138|dbVar:nssv15154014|dbVar:nssv15755815|dbVar:nssv15755817|dbVar:nssv16255668|dbVar:nssv18329661|dbVar:nssv18330205|dbVar:nssv15156359|dbVar:nssv15142823|dbVar:nssv15140066|dbVar:nssv15133432|dbVar:nssv15605805|dbVar:nssv15605808|dbVar:nssv15605806|dbVar:nssv15132858|dbVar:nssv15133520|dbVar:nssv15132127|dbVar:nssv15133128|dbVar:nssv15136566|dbVar:nssv15133389|dbVar:nssv15140044|dbVar:nssv15133925|dbVar:nssv15138146|dbVar:nssv15133393|nssv15139545|dbVar:nssv15135020|dbVar:nssv15132566|dbVar:nssv15164039|dbVar:nssv17955656|dbVar:nssv15132423|dbVar:nssv15132330|dbVar:nssv15126758|dbVar:nssv15127771|dbVar:nssv15126436|dbVar:nssv17649918|dbVar:nssv15162011|dbVar:nssv15125959|dbVar:nssv17955842|dbVar:nssv15139556|dbVar:nssv15122631|dbVar:nssv15123767|dbVar:nssv15162014|dbVar:nssv15143627|dbVar:nssv16865904|dbVar:nssv15123759|dbVar:nssv17650003|dbVar:nssv15755805|dbVar:nssv15132167|dbVar:nssv15133526|dbVar:nssv15162019|dbVar:nssv15145463|dbVar:nssv15145234|dbVar:nssv16207634|dbVar:nssv15605810|dbVar:nssv15605809|dbVar:nssv18842027|dbVar:nssv18842024|nssv18842046|dbVar:nssv18326316|dbVar:nssv15139749|dbVar:nssv15140369|dbVar:nssv15136643|dbVar:nssv15131931|nssv15133075|dbVar:nssv15131925|dbVar:nssv15134715|dbVar:nssv15132426|TS3:ISCA-37446|dbVar:nssv15605828|dbVar:nssv15153271|dbVar:nssv17976874|dbVar:nssv15139887|dbVar:nssv15137698|dbVar:nssv15139242|dbVar:nssv18329574|dbVar:nssv18329591|dbVar:nssv17976884|dbVar:nssv15132247|nssv15139527|dbVar:nssv15131997|nssv15139348|dbVar:nssv15137835|dbVar:nssv15132026|nssv15139977|dbVar:nssv15127741|dbVar:nssv18830785|dbVar:nssv15154013|dbVar:nssv16254573|dbVar:nssv16255670|dbVar:nssv15133914|dbVar:nssv15145464|dbVar:nssv15755306|dbVar:nssv15132169|dbVar:nssv17976883|dbVar:nssv16207466|dbVar:nssv15132044|dbVar:nssv15139694|dbVar:nssv15120579|dbVar:nssv15133646|dbVar:nssv15139596|dbVar:nssv15132083|dbVar:nssv18330192|dbVar:nssv15139716|dbVar:nssv15135998|dbVar:nssv15139748;po_P_gain_coord=22:16054668-51243435|22:16054692-27296513|22:16054692-51220902|22:16054692-51237463|22:16054692-51237518|22:16087695-19010508|22:16087695-20311784|22:16114245-18917748|22:16114245-20737903|22:16114245-51195728|22:16114245-51211392|22:16197006-51224252|22:16800001-21500000|22:16888900-18916828|22:16888900-20311858|22:16888900-20312661|22:16888900-21915509|22:16888900-22290476|22:16888900-26483608|22:16888900-27657507|22:16888900-51197838|22:16888901-18916828|22:16888901-51197838|22:17012936-21431054|22:17041670-20247250|22:17055734-20312661|22:17072087-20130474|22:17264512-23238029|22:17289828-20311922|22:17397499-18984519|22:17397499-20311763|22:17397499-20659606|22:17397499-20708934|22:17397499-21505417|22:17397499-24754904|22:17397499-51178264|22:17397634-19584890|22:17397634-51178213|22:18533255-18942804|22:18570313-19184416|22:18609713-21408430|22:18611224-21408430|22:18628020-20311763|22:18628133-21712996|22:18628133-21900562|22:18628133-51244566|22:18628148-21722313|22:18637140-20289862|22:18640730-21465659|22:18641480-21917191|22:18644791-21465659|22:18645354-21465659|22:18648856-21461017|22:18648856-21927646|22:18648867-21465659|22:18648868-20311858|22:18648868-21798907|22:18649190-20311858|22:18650665-21440455|22:18650665-21440514|22:18650676-21455556|22:18650746-21460220|22:18650804-21386010|22:18650804-21460220|22:18651615-21440455|22:18652638-21914178|22:18660554-21455556|22:18661700-21505445|22:18661700-22905025|22:18661725-20311763|22:18661725-21025713|22:18661725-21440514|22:18661725-21461752|22:18661725-21505417|22:18661725-21661435|22:18661725-32217179|22:18675474-21465050|22:18687211-19060954|22:18704555-21411284|22:18706002-21440514|22:18713492-20412989|22:18713492-21712996|22:18713492-21917191|22:18841375-21465101|22:18844633-21463730|22:18848021-21468378|22:18873002-21469900|22:18874966-21028946|22:18877788-20306993|22:18877788-21462353|22:18878410-21467387|22:18886916-20278471|22:18886916-21461017|22:18886916-23421058|22:18889978-21463189|22:18890265-21464056|22:18890272-21505417|22:18890272-21561514|22:18891399-21463730|22:18891967-20311852|22:18891967-21631412|22:18892576-20306993|22:18892576-20308800|22:18892576-21460220|22:18893839-20508931|22:18893839-21416074|22:18893889-21414817|22:18894340-21032422|22:18894340-21440455|22:18894821-21505445|22:18894836-21505417|22:18894836-21561514|22:18894836-21809009|22:18909039-21798755|22:18912232-21465672|22:18912515-21922035|22:18916828-21465659|22:18916828-21804886|22:18916829-21465659|22:18916829-21465662|22:18916843-21465659|22:18916844-21798907|22:18916844-21804563|22:18917048-21465659|22:18919943-21505417|22:18919943-21561514|22:18919943-21801604|22:18919943-21809009|22:18919988-21561468|22:18936190-21464809|22:18970561-21465662|22:19024657-21465662|22:19035090-22672555|22:19058830-21561514|22:19346606-21864619|22:19819478-21464764|22:20402634-21561514|22:20732809-21465659|22:20732809-25193541|22:20748977-21499971|22:20754423-21505417|22:21022841-22712836|22:21025655-21505417|22:21025655-22336268|22:21025655-22400806|22:21029657-22485776|22:21081261-21505417|22:21261515-37583387|22:21400684-23654222;po_P_gain_percent=7.30|22.85|7.31|7.30|7.30|3.96|33.54|0.82|39.86|7.32|7.32|7.34|54.67|1.08|41.40|41.41|51.11|47.57|26.78|23.86|7.49|1.08|7.49|57.40|42.19|43.53|40.40|43.01|46.89|5.65|48.62|54.10|54.78|62.54|34.92|7.61|31.55|7.61|11.71|47.16|89.81|89.86|84.15|83.29|78.51|7.88|83.04|84.41|90.95|78.43|91.08|91.10|91.25|78.36|91.21|85.21|81.56|85.23|91.25|91.25|91.30|91.31|91.08|91.31|91.28|78.78|91.62|90.35|60.55|85.87|90.14|91.61|91.67|90.35|85.65|18.95|92.10|44.45|92.97|93.09|89.33|85.66|80.20|97.92|98.08|98.05|98.94|99.08|98.81|99.34|99.24|99.43|99.69|56.67|99.81|99.82|98.25|96.18|99.87|99.80|93.79|99.84|99.84|99.91|99.94|99.96|99.96|99.98|99.98|98.42|98.42|96.35|88.17|88.42|99.94|84.78|99.94|88.20|99.94|99.94|99.94|88.38|88.21|99.94|98.40|96.31|88.29|88.06|96.31|99.97|99.94|99.94|66.78|96.11|84.09|99.96|91.60|99.79|16.39|95.23|94.50|26.11|91.39|33.45|31.88|29.84|90.26|1.24|2.81;po_P_loss_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-D)_(includes_TBX1);po_P_loss_source=dbVar:nssv15134634|dbVar:nssv16208592|dbVar:nssv16208593|dbVar:nssv15141423|dbVar:nssv15132388|dbVar:nssv15128094|dbVar:nssv15132068|dbVar:nssv15133055|dbVar:nssv18787557|nssv18791888|dbVar:nssv16207650|dbVar:nssv15153272|dbVar:nssv15135754|dbVar:nssv15133431|nssv15139986|dbVar:nssv15125556|dbVar:nssv15126775|dbVar:nssv15133864|dbVar:nssv15755811|dbVar:nssv15755813|dbVar:nssv18326404|dbVar:nssv15126915|dbVar:nssv15128185|dbVar:nssv15145459|dbVar:nssv15145460|dbVar:nssv15138286|dbVar:nssv15154015|nssv18326430|dbVar:nssv18330227|dbVar:nssv17976889|dbVar:nssv17976891|dbVar:nssv15153273|dbVar:nssv18330460|dbVar:nssv17976888|dbVar:nssv15145461|dbVar:nssv15138328|dbVar:nssv17976880|dbVar:nssv15154017|dbVar:nssv18329577|dbVar:nssv15140316|dbVar:nssv15133433|dbVar:nssv18326382|dbVar:nssv17955872|dbVar:nssv15133434|dbVar:nssv16255835|dbVar:nssv15132708|dbVar:nssv15134184|dbVar:nssv15132128|nssv15139349|dbVar:nssv15134982|dbVar:nssv15135883|dbVar:nssv15133394|nssv16091745|dbVar:nssv15132006|nssv15139990|dbVar:nssv15137884|dbVar:nssv15133435|dbVar:nssv18792765|dbVar:nssv15135454|dbVar:nssv15133438|nssv15140028|dbVar:nssv15132230|nssv15139684|dbVar:nssv15132655|nssv15139976|dbVar:nssv15136079|dbVar:nssv15132507|nssv15139975|dbVar:nssv15132389|dbVar:nssv17976452|dbVar:nssv15164040|dbVar:nssv15137872|dbVar:nssv16254738|dbVar:nssv15127636|dbVar:nssv15128166|dbVar:nssv15127784|dbVar:nssv16208773|dbVar:nssv15145231|dbVar:nssv15145040|dbVar:nssv18786377|dbVar:nssv15145232|dbVar:nssv15139558|dbVar:nssv15163611|dbVar:nssv16215256|dbVar:nssv15128065|dbVar:nssv17955534|dbVar:nssv15163612|dbVar:nssv15145462|dbVar:nssv15145233|dbVar:nssv15163613|dbVar:nssv15132390|dbVar:nssv15163614|dbVar:nssv15162012|dbVar:nssv15139255|dbVar:nssv15162013|dbVar:nssv15162015|dbVar:nssv17976449|dbVar:nssv17955549|dbVar:nssv15162016|nssv16215222|nssv16215239|nssv16865884|dbVar:nssv15162017|dbVar:nssv15164042|dbVar:nssv15143222|dbVar:nssv15162018|dbVar:nssv16865881|dbVar:nssv15164043|dbVar:nssv15755824|dbVar:nssv17650004|dbVar:nssv17649858|dbVar:nssv16297048|dbVar:nssv17517456|dbVar:nssv15141730|dbVar:nssv15126093|dbVar:nssv15125439|dbVar:nssv15755804|dbVar:nssv15121171|dbVar:nssv15133439|dbVar:nssv15132392|dbVar:nssv15132132|dbVar:nssv15133440|dbVar:nssv15136213|dbVar:nssv15605874|nssv15605879|dbVar:nssv17976881|dbVar:nssv15119655|dbVar:nssv18842051|dbVar:nssv17173212|dbVar:nssv17173202|dbVar:nssv18792648|dbVar:nssv16091922|dbVar:nssv15143862|dbVar:nssv17976675|dbVar:nssv18830700|dbVar:nssv18786378|dbVar:nssv18786379|dbVar:nssv15140698|dbVar:nssv15139562|dbVar:nssv15140747|dbVar:nssv15140051|dbVar:nssv15133317|nssv15143213|dbVar:nssv15131926|dbVar:nssv15605919|dbVar:nssv15755810|HI3:ISCA-37446|dbVar:nssv15139269|dbVar:nssv15137499|dbVar:nssv15138712|dbVar:nssv18330193|dbVar:nssv15139855|nssv18326386|dbVar:nssv15139854|nssv15153270|dbVar:nssv15154016|nssv17976890|dbVar:nssv15152149|dbVar:nssv15137491|dbVar:nssv18330326|dbVar:nssv18329598|dbVar:nssv18330218|dbVar:nssv15141653|dbVar:nssv15142207|dbVar:nssv15755814|dbVar:nssv15132248|nssv15139690|dbVar:nssv15134351|dbVar:nssv15132463|nssv15139699|dbVar:nssv15132523|dbVar:nssv15155695|dbVar:nssv18831006|dbVar:nssv17976279|dbVar:nssv15139289|dbVar:nssv15139467|dbVar:nssv15142401|dbVar:nssv15134356|dbVar:nssv18330006|dbVar:nssv15137446|dbVar:nssv17976741|dbVar:nssv15153268|dbVar:nssv15156357|dbVar:nssv18842023|dbVar:nssv15132608|dbVar:nssv15145465|dbVar:nssv15145466|dbVar:nssv15145235|dbVar:nssv15772502|dbVar:nssv15154008|dbVar:nssv15156354|dbVar:nssv15755308|nssv15755309|dbVar:nssv15155696|dbVar:nssv18330327|dbVar:nssv18326378|dbVar:nssv18329593|dbVar:nssv18330275|dbVar:nssv18329587|dbVar:nssv18329620|dbVar:nssv17956682|dbVar:nssv15776637|dbVar:nssv17649919|dbVar:nssv18326434|dbVar:nssv18326440|dbVar:nssv15120712|dbVar:nssv15139564|dbVar:nssv16208598|dbVar:nssv15755307|dbVar:nssv15156347|dbVar:nssv18330257|dbVar:nssv15755311|dbVar:nssv17957425|dbVar:nssv15121593|dbVar:nssv15154007|dbVar:nssv15134856|dbVar:nssv18330729|dbVar:nssv18330196|dbVar:nssv17977102;po_P_loss_coord=22:16087695-19363465|22:16888900-20125005|22:16888900-20730144|22:16888901-20026751|22:17019016-20718227|22:17177912-19892632|22:17397499-20311763|22:17397499-20708934|22:17565983-20052185|22:18475386-23764120|22:18626109-21800797|22:18628020-21464119|22:18628020-21505417|22:18628133-21561468|22:18628133-21883879|22:18628148-21440515|22:18631365-21800471|22:18636750-21800471|22:18639781-21910280|22:18641480-21712996|22:18641480-21722262|22:18642647-21717111|22:18642647-21742277|22:18644242-21465662|22:18644543-21465659|22:18644544-21800797|22:18644791-21798907|22:18644791-21800471|22:18644791-21915509|22:18644792-21041014|22:18645354-21800797|22:18646694-21631412|22:18648857-21465662|22:18648867-21798907|22:18648867-21800797|22:18648868-21465659|22:18650665-21440455|22:18650676-21455556|22:18655799-21726191|22:18660136-21737597|22:18660554-21455556|22:18661700-21457610|22:18661700-21505445|22:18661725-20659606|22:18661725-21440514|22:18661725-21461811|22:18661725-21464119|22:18661725-21505417|22:18661725-21561514|22:18661725-21809009|22:18671630-21536841|22:18689517-21588615|22:18706002-20311763|22:18706002-20659606|22:18706002-21025713|22:18706002-21440514|22:18706002-21464119|22:18706002-21505417|22:18706002-21809009|22:18718029-21326012|22:18728119-21811991|22:18765086-21661435|22:18765103-21661435|22:18788000-21065894|22:18788000-21468378|22:18788000-21684798|22:18789966-21591197|22:18790223-21697998|22:18820423-21477877|22:18834446-21414817|22:18834453-21575702|22:18844633-21463730|22:18844633-21608479|22:18844633-21797812|22:18848021-21468378|22:18861210-21630630|22:18861749-21463730|22:18868433-20331055|22:18868433-21477877|22:18872509-21465050|22:18874457-20306317|22:18875870-21470273|22:18875957-21466715|22:18876631-21465659|22:18878410-21465050|22:18878410-21907671|22:18884515-21484289|22:18884715-21483289|22:18886916-21463730|22:18886916-21465050|22:18886916-21467387|22:18886916-21811991|22:18889491-20312668|22:18889491-21463730|22:18889491-21466715|22:18889491-21917190|22:18889572-21464697|22:18889694-21465485|22:18889951-21466053|22:18889970-21462658|22:18890043-21440455|22:18890163-21464056|22:18890222-21561468|22:18890265-21540347|22:18890272-18999862|22:18890272-20328113|22:18890272-20659606|22:18890272-21394730|22:18890272-21461811|22:18891527-21796215|22:18892576-21460220|22:18893345-21650280|22:18893736-18924066|22:18893839-20307561|22:18893883-21563420|22:18893883-21571027|22:18893887-21386103|22:18893888-18923800|22:18893889-18973671|22:18893889-21414817|22:18893889-21481925|22:18893889-21570386|22:18894079-21414817|22:18894340-20255110|22:18894340-20255154|22:18894340-21440455|22:18894340-21440514|22:18894836-21505417|22:18894836-21561514|22:18900756-21800277|22:18912232-21465672|22:18912232-21465672|22:18916828-21465662|22:18916829-21465659|22:18916829-21465662|22:18916829-21800797|22:18916843-21465659|22:18916843-21465662|22:18916843-21798907|22:18916843-21804716|22:18916843-21804886|22:18916844-21465659|22:18916844-21800471|22:18916844-21915509|22:18917048-21465659|22:18917048-21465662|22:18919478-21800471|22:18919943-21505417|22:18919943-21505558|22:18919943-21561514|22:18919943-21809009|22:18935464-21465659|22:18936190-21464809|22:18936191-21464809|22:18970562-21465662|22:19024657-21465659|22:19024658-21465662|22:19029603-21505417|22:19046678-21465662|22:20279767-23822986|22:20310411-21804886|22:20311904-21465659|22:20311904-21800797|22:20609933-21576553|22:20659548-21561514|22:20703817-21503296|22:20703817-21631412|22:20713276-21477877|22:20716877-21465659|22:20716877-21465662|22:20716877-21798907|22:20716877-21800471|22:20716877-23819697|22:20716878-21465659|22:20725309-21465659|22:20725310-21804563|22:20725319-21800797|22:20728958-21798907|22:20728958-21800797|22:20728958-21915096|22:20729389-21465662|22:20730997-21465342|22:20732809-21465659|22:20732809-21800471|22:20733428-21505417|22:20749626-23972878|22:21029656-22481498|22:21033587-21800471|22:21049800-21465662|22:21049801-21465662|22:21059670-21800471|22:21059670-21804716|22:21065883-21937680|22:21075676-21465662|22:21081261-24593820|22:21092649-21465662|22:21188488-21804597|22:21462567-22962196;po_P_loss_percent=14.31|38.01|47.78|36.07|49.29|36.76|48.62|54.78|46.55|48.58|80.93|90.59|89.29|87.59|78.92|90.52|81.07|81.21|78.56|83.65|83.40|83.57|82.89|91.06|91.07|81.40|81.46|81.42|78.55|89.57|81.42|86.08|91.21|81.56|81.51|91.21|91.25|91.30|83.68|83.49|91.62|91.66|90.35|88.33|91.61|91.67|91.68|90.35|88.60|81.63|89.67|88.62|88.24|90.33|91.86|93.09|93.15|91.78|82.80|93.22|83.31|88.71|88.71|95.31|95.86|88.69|91.72|88.36|96.68|97.66|93.73|98.08|92.96|87.00|98.05|92.77|98.73|98.19|98.46|99.10|98.58|99.03|99.17|99.24|99.33|84.82|98.83|98.87|99.69|99.66|99.57|87.84|99.62|99.79|99.69|84.86|99.77|99.75|99.74|99.81|99.81|99.82|96.18|96.95|95.84|99.68|99.74|99.82|99.82|88.45|99.91|93.19|96.37|99.93|96.24|95.97|99.96|96.83|98.81|99.96|99.28|95.99|99.97|99.96|99.96|99.98|99.98|98.42|96.35|88.41|99.94|99.94|99.94|99.94|99.94|88.33|99.94|99.94|88.38|88.21|88.20|99.94|88.34|84.95|99.94|99.94|88.33|98.40|98.40|96.31|88.06|99.94|99.97|99.97|99.94|99.94|99.94|98.33|99.94|33.43|77.20|99.87|77.39|88.37|89.20|95.10|81.96|98.20|99.79|99.79|69.06|68.96|24.08|99.79|99.79|68.46|68.70|68.71|68.59|61.98|99.79|99.83|99.79|68.50|94.65|22.17|29.92|56.14|99.63|99.63|54.60|54.29|45.68|99.60|10.90|99.59|44.74|0.10;P_snvindel_nb=382,.,9,.,.,.,.,.,.,.,.,.,9,.,.,.,.,.,7,1,.,.,9,9,21,.,.,.,1,.,.,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,.,.,.,.,8,.,10,.,.,.,287,.,.,.,.,.,.,.,.,.;P_snvindel_phen=2-hydroxyglutaric_aciduria|Abnormality_of_metabolism/homeostasis|Acute_rhabdomyolysis|Autism_spectrum_disorder|Bardet-Biedl_syndrome|Bernard_Soulier_syndrome|CEDNIK_syndrome|CLDN5-related_neurodevelopmental_disorder|Cardiac_arrhythmia|Cardiovascular_phenotype|D,L-2-hydroxyglutaric_aciduria|DiGeorge_syndrome|Episodic_flaccid_weakness|Fetal_cystic_hygroma|Hereditary_cancer-predisposing_syndrome|Hypomyelinating_leukodystrophy_2|Inborn_genetic_diseases|Intellectual_disability|LZTR1-related_condition|LZTR1-related_disorders|Macrothrombocytopenia|Meier-Gorlin_syndrome_7|Metabolic_crises_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration|Mild_macrothrombocytopenia|Myasthenic_syndrome,_congenital,_23,_presynaptic|Noonan_syndrome|Noonan_syndrome_10|Noonan_syndrome_2|Noonan_syndrome_and_Noonan-related_syndrome|PI4KA-Related_Disorders|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis|Proline_dehydrogenase_deficiency|RASopathy|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|SLC25A1-related_condition|Schwannomatosis|Schwannomatosis_2|See_cases|Seizure|Short_stature|Spastic_paraplegia_84,_autosomal_recessive|Thrombocytopenia|Van_den_Ende-Gupta_syndrome|Velocardiofacial_syndrome,.,Inborn_genetic_diseases|Proline_dehydrogenase_deficiency,.,.,.,.,.,.,.,.,.,2-hydroxyglutaric_aciduria|D,L-2-hydroxyglutaric_aciduria|Inborn_genetic_diseases|Myasthenic_syndrome,_congenital,_23,_presynaptic|SLC25A1-related_condition,.,.,.,.,.,Meier-Gorlin_syndrome_7,CLDN5-related_neurodevelopmental_disorder,.,.,Bernard_Soulier_syndrome|Macrothrombocytopenia|Mild_macrothrombocytopenia|Thrombocytopenia,Bernard_Soulier_syndrome|Macrothrombocytopenia|Mild_macrothrombocytopenia|Thrombocytopenia,DiGeorge_syndrome|Inborn_genetic_diseases|Velocardiofacial_syndrome,.,.,.,Bardet-Biedl_syndrome,.,.,Abnormality_of_metabolism/homeostasis|Acute_rhabdomyolysis|Cardiac_arrhythmia|Episodic_flaccid_weakness|Inborn_genetic_diseases|Intellectual_disability|Metabolic_crises_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Seizure,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Van_den_Ende-Gupta_syndrome,.,.,.,.,PI4KA-Related_Disorders|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis|Spastic_paraplegia_84,_autosomal_recessive,.,CEDNIK_syndrome|Hypomyelinating_leukodystrophy_2,.,.,.,Autism_spectrum_disorder|Cardiovascular_phenotype|Fetal_cystic_hygroma|Hereditary_cancer-predisposing_syndrome|Inborn_genetic_diseases|LZTR1-related_condition|LZTR1-related_disorders|Noonan_syndrome|Noonan_syndrome_10|Noonan_syndrome_2|Noonan_syndrome_and_Noonan-related_syndrome|RASopathy|Schwannomatosis|Schwannomatosis_2|See_cases|Short_stature,.,.,.,.,.,.,.,.,.;B_gain_source=.,DDD:56146|DDD:56173|DDD:56174|dbVar|dgv543n27|dgv99e203|gnomAD-SV_v2.1_DUP_22_50647,DDD:56146|DDD:56173|DDD:56174|dbVar|dgv543n27|dgv99e203|gnomAD-SV_v2.1_DUP_22_50647,1000g|DDD:56146|DDD:56173|DDD:56174|dbVar|dgv543n27|dgv99e203|esv3647250|gnomAD-SV_v2.1_DUP_22_50652,dgv543n27,dbVar|dgv543n27,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.,.,.,DDD:56225|DDD:56226|dbVar,DDD:56225|DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|dbVar,DDD:56226|dbVar,DDD:56226|dbVar,DDD:56226|dbVar,DDD:56226|DDD:56255|dbVar,dbVar,dbVar,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar|esv2760719,dbVar|esv2760719,dbVar|esv2760719,dbVar|esv2760719;B_gain_coord=.,22:18655861-19006984|22:18667571-18994853|22:18876429-19006125|22:18877788-19033532|22:18882313-19012377|chr22:18884850-18926400|22:18884850-18926400,22:18655861-19006984|22:18667571-18994853|22:18876429-19006125|22:18877788-19033532|22:18882313-19012377|chr22:18884850-18926400|22:18884850-18926400,22:18655861-19006984|22:18667571-18994853|22:18876429-19006125|22:18877788-19033532|22:18882313-19012377|chr22:18912157-18998999|22:18912158-18998999|22:18912158-18998999|chr22:18924000-18940000|22:18924000-18940000,22:18877788-19033532,22:18877788-19033532|chr22:18998500-19027500|chr22:19015177-19088691,.,chr22:19015177-19088691|chr22:19030334-19103057|chr22:19031999-19054000,chr22:19072999-19342000,chr22:19072999-19342000|chr22:19096500-19120500,chr22:19072999-19342000,chr22:19072999-19342000,chr22:19072999-19342000,chr22:19072999-19342000,.,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19531786-19559055|chr22:19531786-19666087,.,.,chr22:19707371-19866503|chr22:19710000-19716000,chr22:19707371-19866503,chr22:19707371-19866503,chr22:19707371-19866503|chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645|chr22:20015350-20023000,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19973106-20124645,chr22:19973106-20124645|chr22:20109000-20115000|chr22:20112900-20120550,.,.,.,.,.,.,.,chr22:20310677-20370753|chr22:20310677-20503817|22:20313251-20369884|22:20322450-20718598,chr22:20310677-20370753|chr22:20310677-20503817|22:20313251-20369884|22:20322450-20718598|22:20330330-20450295|22:20343574-20380608,chr22:20310677-20503817|22:20322450-20718598|22:20330330-20450295|22:20343574-20380608|chr22:20370753-20489646|chr22:20370753-20503717,chr22:20310677-20503817|22:20322450-20718598|22:20330330-20450295|chr22:20370753-20489646|chr22:20370753-20503717,chr22:20310677-20503817|22:20322450-20718598|chr22:20370753-20489646|chr22:20370753-20503717,chr22:20310677-20503817|22:20322450-20718598|chr22:20370753-20489646|chr22:20370753-20503717|chr22:20465500-20509200,22:20322450-20718598|chr22:20610555-20718305,22:20322450-20718598|chr22:20610555-20718305|22:20659548-20717455,chr22:20722999-20763000|chr22:20746552-20846353|chr22:20747116-20782223,chr22:20746552-20846353|chr22:20763251-20802665,.,.,chr22:20989999-21481000|chr22:21036802-21046081|chr22:21036802-21053355|chr22:21037000-21051000,chr22:20989999-21481000|chr22:21051000-21059000,chr22:20989999-21481000,chr22:20989999-21481000|chr22:21078735-21159481,chr22:20989999-21481000,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350|22:21383283-21845355|chr22:21384000-21389000,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350|22:21383283-21845355,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350|22:21383283-21845355,chr22:20989999-21481000|22:21383283-21845355|chr22:21453999-21469000|chr22:21455959-21464881;B_gain_AFmax=.,0.0355,0.0355,0.0355,0.01,0.01,.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,.,0.01,0.01,0.01,0.01,0.01,0.01,.,.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,.,.,.,.,.,.,.,0.0509,0.0509,0.0509,0.0509,0.0509,0.0509,0.0509,0.0509,0.01,0.01,.,.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01;B_loss_source=.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,DDD:56225|DDD:56226|dbVar,DDD:56225|DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|dbVar,DDD:56226|HI40:ISCA-46728|dbVar|dgv817e199,DDD:56226|HI40:ISCA-46728|dbVar|dgv817e199,DDD:56226|dbVar,DDD:56226|DDD:56255|dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar;B_loss_coord=.,chr22:18884924-19013000|chr22:18884925-18927000,chr22:18884924-19013000|chr22:18884925-18927000,chr22:18884924-19013000|chr22:18912157-18998999,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000|chr22:19161075-19192940,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000|chr22:19528613-19558447|chr22:19531786-19559055,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000|22:20313251-20369884|22:203224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070188|1065051|1068661|1073865|1068662|1069644|1066059|724992|724993|367925|2069010|724994|724995|75440,724992|724993,.,687520|325941,.,.,687522,.,.,.,724998,.,.,.,725000,.;Cosmic_mut_typ=loss|gain,.,loss,.,.,.,gain|loss,.,.,.,.,.,.,loss,loss,.,.,gain|loss,loss,.,.,.,.,.,.,loss|gain,.,gain|loss,loss|gain,.,gain|loss,loss|gain,.,loss,.,.,.,.,loss,.,loss,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,gain|loss,gain|loss,.,.,.,loss|gain,loss,.,gain,.,.,gain,.,.,.,loss,.,.,.,loss,.;GC_content_left=0.445;GC_content_right=0.32;Repeat_coord_left=22:18894850-18894969;Repeat_type_left=L1ME2z;Repeat_coord_right=22:21464126-21464591;Repeat_type_right=L1MA7;SegDup_left=22:18889511-18912230;HI=1,.,30,.,.,.,.,.,.,.,.,.,30,.,0,.,.,.,.,.,.,.,.,30,2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,30,.,.,.,.,.,.,30,1,.,.,.,.,.,.,.,.,.,.,.,.;TS=.,.,0,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.;DDD_HI_percent=97.89,61.1,45.38,.,.,.,39.12,.,.,33.13,65.74,.,46.07,72.86,19.48,54.99,70.45,.,8.4,50.93,.,.,.,78.01,4.92,48.57,.,72.21,40.8,.,54.56,51.91,.,5.07,.,.,68.23,.,8.76,.,37.82,.,.,.,35.77,.,79.33,97.89,94.16,.,.,90.21,.,.,.,86.28,70.17,41.2,24.41,.,.,35.17,68.88,61.36,4.35,.,38.59,32.82,50.87,.,.,76.26,74.02,.,.,.,.;ExAC_delZ=-0.807902299547855,.,.,.,.,.,.,.,.,-2.62354415217069,.,.,-2.62354415217069,-2.62354415217069,-2.51547904504873,-2.62354415217069,-2.53806827104914,.,-2.57292784443109,.,.,.,.,.,-2.62354415217069,-2.62354415217069,.,-2.62354415217069,-2.62354415217069,.,-2.62354415217069,-2.62354415217069,.,-2.46581011772843,.,.,-2.62354415217069,.,-2.62354415217069,.,-2.62354415217069,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1.30437956536809,-1.42333559636086,-1.60479766897668,.,.,.,.,-1.06265755233802,-1.39880243235913,-0.928255048107525,.,-1.14442881641699,-1.25119505668143,-1.44618961523547,.,.,-1.8606303493434,-0.807902299547855,.,.,.,.;ExAC_dupZ=-1.20830830104818,.,.,.,.,.,.,.,.,-2.53125239294469,.,.,-2.53125239294469,-2.53125239294469,-2.53125239294469,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,.,.,.,.,.,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,.,.,-2.53125239294469,.,-2.53125239294469,.,-2.53125239294469,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1.89912490049618,-1.93669033911618,-1.94085802577819,.,.,.,.,-1.49456297636655,-1.53414994058354,-1.20830830104818,.,-1.26664892202732,-1.28020537251329,-1.52989215323949,.,.,-1.51336493990188,-1.26588610868392,.,.,.,.;ExAC_cnvZ=-0.791505674827999,.,.,.,.,.,.,.,.,-2.47162789907313,.,.,-2.47162789907313,-2.47162789907313,-2.47162789907313,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,.,.,.,.,.,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,.,.,-2.47162789907313,.,-2.47162789907313,.,-2.47162789907313,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1.51976012533128,-1.61173791689534,-1.599983320827,.,.,.,.,-1.03231231326932,-1.19910660480315,-0.791505674827999,.,-0.922844550293754,-0.946080819110286,-1.19895133869269,.,.,-1.2805127161158,-1.04316708587741,.,.,.,.;ExAC_synZ=2.94244265911253,-0.678746019468492,0.360135634788785,.,.,.,-0.375038933750903,.,.,-0.184731887964386,1.18735715980007,.,0.459211010381399,-0.597972033048653,-0.543665561522748,0.0822917398873284,0.128056348383697,.,0.554183575869215,2.94244265911253,.,.,.,-0.002241469611443,2.36782594176173,-0.373621593221624,.,0.348188483468328,0.465852147917107,.,0.425870777992255,1.46130508236304,.,0.690563071344625,.,.,-1.98609532754524,.,-1.04492215962902,.,-0.408428770523539,.,.,.,-0.800223805913347,.,0.698499439551705,.,.,.,.,.,.,.,.,2.28676628831896,.,-0.0046056816669864,0.672972182845271,.,.,1.20573288011437,-0.289055396385536,1.58078637399342,0.477351976371369,.,0.687283106386744,0.246895000414255,-1.50983365445593,.,.,-0.990180484365383,-0.387275128092876,.,.,.,.;ExAC_misZ=5.29477062168781,-0.22775445384527,0.772811927860626,.,.,.,0.817637812863819,.,.,1.02819617031079,0.932740471460801,.,1.99698466418685,-1.19469008098196,3.98018572942351,-0.450618700229176,0.836381939603491,.,1.2901097836858,3.34022892264706,.,.,.,0.855158778511627,3.38001100960461,0.590344002361273,.,0.327140414338646,0.557839148920189,.,-0.701931719398633,0.279301120222081,.,4.03153091509844,.,.,-0.363927890852326,.,2.06932219421127,.,2.39258092860216,.,.,.,1.18081437151802,.,0.174075190759776,.,.,.,.,.,.,.,.,2.39892044394279,.,2.85964800561254,2.65389095774821,.,.,5.29477062168781,-0.349034099945665,-0.841707455415557,3.00980268645085,.,1.33036583543754,0.909128978651125,1.16392737773964,.,.,-0.63060581685217,-1.12481109733158,.,.,.,.;GenCC_disease=.,.,hyperprolinemia_type_1,.,.,.,schizophrenia,.,.,.,.,.,D,L-2-hydroxyglutaric_aciduria|myasthenic_syndrome,_congenital,_23,_presynaptic|presynaptic_congenital_myasthenic_syndrome,congenital_insensitivity_to_pain_with_severe_intellectual_disability|multiple_congenital_anomalies/dysmorphic_syndrome,.,.,.,.,Meier-Gorlin_syndrome|Meier-Gorlin_syndrome_7,.,.,.,.,Bernard-Soulier_syndrome|autosomal_dominant_macrothrombocytopenia,22q11.2_deletion_syndrome|DiGeorge_syndrome|conotruncal_heart_malformations|velocardiofacial_syndrome,.,.,dilated_cardiomyopathy|familial_glucocorticoid_deficiency|familial_isolated_dilated_cardiomyopathy|glucocorticoid_deficiency_5,paroxysmal_dyskinesia,.,.,metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration|recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,van_den_Ende-Gupta_syndrome,.,.,.,.,polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,heparin_cofactor_2_deficiency,CEDNIK_syndrome,.,.,.,Noonan_syndrome|Noonan_syndrome_10|Noonan_syndrome_2|schwannomatosis_2,.,.,.,.,.,.,.,.,.;GenCC_moi=.,.,AR,.,.,.,AD,.,.,.,.,.,AD|AR,AD|AR,.,.,.,.,AD|AR,.,.,.,.,AD|AR,AD,.,.,AD|AR,AD,.,.,AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,AR,AD,AR,.,.,.,AD|AR,.,.,.,.,.,.,.,.,.;GenCC_classification=.,.,Definitive|Strong|Supportive,.,.,.,Limited,.,.,.,.,.,Limited|Strong|Supportive,Limited|Supportive,.,.,.,.,Definitive|Strong|Supportive,.,.,.,.,Definitive|Strong|Supportive,Definitive|Strong|Supportive,.,.,Limited|Supportive,Moderate,.,.,Moderate|Strong,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Definitive|Limited|Moderate|Strong|Supportive,.,.,.,.,Definitive|Moderate|Strong,Definitive|Limited|Strong,Strong|Supportive,.,.,.,Definitive|Moderate|Strong|Supportive,.,.,.,.,.,.,.,.,.;GenCC_pmid=.,.,10192398|12217952|12525555|15662599|19736351|20524212|20524212[PMID]_23462603[PMID]|23462603|26978485|28202261|28851938|5031477,.,.,.,.,.,.,.,.,.,23561848|23561848[PMID]_23393310[PMID]|26273529|26870663|29238895|31527857|31808147|NULL,26068709[PMID],.,.,.,.,11416137|121376|149250|27374770|27374770[PMID]|282832|30986546,.,.,.,.,10887115|12447957|15213102|18825380|19484238|22886561[PMID]|23995613|28064200[PMID],11239417|11242049|11242110|11748311|14585638|14585638[PMID]|18636631|192430|20054531|20937753|24637876|24998776|25860641|29500247,.,.,21247928[PMID]|24601690[PMID]|30237576|32476818,.,.,.,26805781|26805782,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,20887961|20887961[PMID]_22140376[PMID]|21108395|22140376|23808541|24478002|3808541,.,.,.,.,25855803|29738522|30614210|34415310|34415322,15337701|2647747|277130|8562924,15968592|15968592[PMID]_21073448[PMID]|21073448|23231787|25473036|26747696,.,.,.,15955931|16534111|23401320|24362817|25335493|25480913|25795793|25795793[PMID]|26446362|274799|278971|287232|29469822|30368668|303983|30442762|30442766|30481304|30664951|30859559|31533111|31825158,.,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,8214,5625,.,26220,117134596,9993,25786,8220,23617,2928,100652736,6576,8218,7290,64976,128977,7353,8318,7122,150185,5413,.,2812,6899,54584,79680,10587,1312,100616414,421,128989,406961,54487,100500860,100302197,27037,102465490,5902,109617010,29801,388849,284865,150197,65078,100302118,85359,653203,728226,728229,728233,85376,117134597,729461,101927859,7625,91179,84861,51586,266697,84222,5297,3053,9342,1399,101928891,150209,8216,80764,439931,113691,9127,6545,693234,440799,400891,400892;OMIM_ID=606810|190315|603465|138720|602054|606448|116790|616830|605566|613619|600286|142360|604202|600574,.,606810,.,.,.,.,.,.,.,.,.,190315,.,.,.,.,.,603465,.,.,.,.,138720,602054,.,.,606448,116790,.,.,616830,.,.,.,.,.,.,.,.,.,.,.,.,605566,.,.,.,.,.,.,.,.,.,.,.,613619,.,.,.,.,600286,142360,604202,.,.,.,600574,.,.,.,.,.,.,.,.,.;OMIM_phenotype=.,.,Hyperprolinemia,_type_I,_239500_(3)_AR|(Schizophrenia,_susceptibility_to,_4),_600850_(3)_AD,.,.,.,.,.,.,.,.,.,Combined_D-2-_and_L-2-hydroxyglutaric_aciduria,_615182_(3)_AR|Myasthenic_syndrome,_congenital,_23,_presynaptic,_618197_(3)_AR,.,.,.,.,.,Meier-Gorlin_syndrome_7,_617063_(3)_AR,.,.,.,.,Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR,Conotruncal_anomaly_face_syndrome,_217095_(3)|DiGeorge_syndrome,_188400_(3)_AD|Tetralogy_of_Fallot,_187500_(3)_AD|Velocardiofacial_syndrome,_192430_(3)_AD,.,.,?Glucocorticoid_deficiency_5,_617825_(3)_AR,(Panic_disorder,_susceptibility_to),_167870_(3)_?AD|(Schizophrenia,_susceptibility_to),_181500_(3)_AD,.,.,Metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration,_616878_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,(Schizophrenia,_susceptibility_to),_181500_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,Van_den_Ende-Gupta_syndrome,_600920_(3)_AR,.,.,.,.,Gastrointestinal_defects_and_immunodeficiency_syndrome_2,_619708_(3)_AR|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,_616531_(3)_AR|Spastic_paraplegia_84,_AR,_619621_(3)_AR,Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD,Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome,_609528_(3)_AR,.,.,.,Noonan_syndrome_10,_616564_(3)_AD|Noonan_syndrome_2,_605275_(3)_AR|(Schwannomatosis-2,_susceptibility_to),_615670_(3)_AD,.,.,.,.,.,.,.,.,.;OMIM_inheritance=.,.,AD|AR,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,.,AR,.,.,.,.,AR,AD,.,.,AR,?AD|AD,.,.,AR,.,.,.,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,AR,AD,AR,.,.,.,AD|AR,.,.,.,.,.,.,.,.,.;OMIM_morbid=yes,.,yes,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,yes,yes,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,yes,yes,yes,.,.,.,yes,.,.,.,.,.,.,.,.,.;OMIM_morbid_candidate=yes,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,yes,.,.,.,.,.,.,.,.,.;LOEUF_bin=0,9,6,.,.,.,4,.,.,6,9,.,3,5,0,4,9,.,3,1,.,.,.,7,2,5,.,5,8,.,4,4,.,0,.,.,5,.,2,.,1,.,.,.,1,.,7,7,.,.,.,7,.,.,.,4,0,2,0,.,.,2,8,4,3,.,5,9,4,.,.,6,6,.,.,.,.;GnomAD_pLI=1,9.8176e-12,5.3577e-12,.,.,.,5.1573e-06,.,.,0.003861,0.0044347,.,0.058829,2.5101e-37,1,0.052924,1.9976e-05,.,4.6237e-05,0.89512,.,.,.,0.51249,0.83661,4.7419e-05,.,3.4688e-11,1.1377e-06,.,5.0422e-11,0.00014769,.,0.99973,.,.,1.0841e-08,.,0.82235,.,0.85288,.,.,.,0.95882,.,5.0636e-05,0.48065,.,.,.,9.0005e-09,.,.,.,1.5586e-06,0.9998,0.42419,0.99974,.,.,3.1234e-12,2.5137e-10,0.013567,0.44604,.,1.9474e-14,1.0210999999999999e-92,0.013291,.,.,4.468e-09,2.8317e-07,.,.,.,.;ExAC_pLI=1,7.621e-07,4.7536e-06,.,.,.,0.0010959,.,.,0.0041565,0.037186,.,0.63354,1.2408e-26,1,0.020082,3.69e-07,.,0.069104,0.74052,.,.,.,0.10112,0.9834,0.0012635,.,1.0692e-08,0.00084666,.,8.2184e-07,4.2224e-06,.,0.9999,.,.,1.3059e-05,.,0.33622,.,0.98899,.,.,.,0.52644,.,0.12857,.,.,.,.,.,.,.,.,0.00035588,.,0.70261,0.96081,.,.,0.00080407,2.7955e-05,0.15166,0.16345,.,1.9583e-10,3.3832e-52,0.029328,.,.,1.8785e-07,0.00010047,.,.,.,.;AnnotSV_ranking_score=1.9;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3C_(76_genes,_+0.90)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=21464119;SVLEN=-2569283 GT 1/. -X 53250654 . G . PASS AnnotSV_ID=X_53250654_53856257_DUP_1;SV_start=53250654;Biologist_annotation=HUWE1;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split;CytoBand=p11.22;Gene_name=KDM5C|IQSEC2|SMC1A|MIR6857|RIBC1|HSD17B10|HUWE1|MIR98|MIRLET7F2,KDM5C,IQSEC2,SMC1A,MIR6857,RIBC1,HSD17B10,HUWE1,MIR98,MIRLET7F2;Closest_left=MIR6894;Closest_right=PHF8;Gene_count=9;Tx=.,NM_001353979,NM_001111125,NM_006306,NR_106916,NM_001031745,NM_004493,NM_031407,NR_029513,NR_029484;Tx_version=.,2,3,4,1,5,3,7,1,1;Tx_start=.,53205458,53262057,53401069,53432604,53449821,53458208,53559056,53583183,53584152;Tx_end=.,53254389,53350548,53449603,53432697,53458063,53461317,53713664,53583302,53584235;Overlapped_tx_length=.,3736,88491,48534,93,8242,3109,154608,119,83;Overlapped_CDS_length=.,150,4467,3702,0,1140,786,13125,0,0;Overlapped_CDS_percent=.,3,100,100,0,100,100,100,0,0;Frameshift=.,no,no,no,no,no,no,no,no,no;Exon_count=.,26,15,25,1,8,6,84,1,1;Location=.,txStart-intron1,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,5'UTR-CDS,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR;Dist_nearest_SS=.,555,.,.,.,.,.,.,.,.;Nearest_SS_type=.,3',.,.,.,.,.,.,.,.;Intersect_start=.,53250653,53262057,53401069,53432604,53449821,53458208,53559056,53583183,53584152;Intersect_end=.,53254389,53350548,53449603,53432697,53458063,53461317,53713664,53583302,53584235;RE_gene=ACADM_(morbid/RE=mTL_miRNA)|ACTA1_(morbid/RE=mTL_miRNA)|ACVR2B_(morbid/RE=mTL_miRNA)|ADA_(morbid/RE=mTL_miRNA)|ADGRE2_(morbid/RE=mTL_miRNA)|ADGRG1_(morbid/RE=mTL_miRNA)|ADH5_(morbid/RE=mTL_miRNA)|AGO1_(morbid/RE=mTL_miRNA)|AGPS_(morbid/RE=mTL_miRNA)|AK2_(morbid/RE=mTL_miRNA)|ALAS2_(morbid/RE=ABC_enhancer)|ALDH1A3_(morbid/RE=mTL_miRNA)|ALDH7A1_(morbid/RE=mTL_miRNA)|ALG3_(morbid/RE=mTL_miRNA)|ALG8_(morbid/RE=mTL_miRNA)|AMD1_(morbid/RE=mTL_miRNA)|AMMECR1_(morbid/RE=mTL_miRNA)|ANKRD11_(HI=3/morbid/RE=mTL_miRNA)|ANTXR2_(morbid/RE=mTL_miRNA)|AP1S1_(morbid/RE=mTL_miRNA)|ARCN1_(HI=3/morbid/RE=mTL_miRNA)|ARHGEF18_(morbid/RE=mTL_miRNA)|ARID1A_(HI=3/morbid/RE=mTL_miRNA)|ARID1B_(HI=3/morbid/RE=mTL_miRNA)|ATL1_(morbid/RE=mTL_miRNA)|ATP13A3_(morbid/RE=mTL_miRNA)|ATP2A2_(morbid/RE=mTL_miRNA)|ATP7B_(morbid/RE=mTL_miRNA)|ATR_(morbid/RE=mTL_miRNA)|ATXN2_(morbid/RE=mTL_miRNA)|B4GAT1_(morbid/RE=mTL_miRNA)|BACH1_(morbid/RE=mTL_miRNA)|BCL11A_(HI=3/morbid/RE=mTL_miRNA)|BCL2_(morbid/RE=mTL_miRNA)|BCOR_(HI=3/morbid/RE=mTL_miRNA)|BNC2_(morbid/RE=mTL_miRNA)|C12orf4_(morbid/RE=mTL_miRNA)|C3_(morbid/RE=mTL_miRNA)|CACNA1C_(morbid/RE=mTL_miRNA)|CACNB2_(morbid/RE=mTL_miRNA)|CALM1_(morbid/RE=mTL_miRNA)|CANT1_(morbid/RE=mTL_miRNA)|CAPN15_(morbid/RE=mTL_miRNA)|CBL_(morbid/RE=mTL_miRNA)|CCND2_(morbid/RE=mTL_miRNA)|CCNF_(morbid/RE=mTL_miRNA)|CD59_(morbid/RE=mTL_miRNA)|CDKN1A_(morbid/RE=mTL_miRNA)|CDKN1B_(HI=3/morbid/RE=mTL_miRNA)|CEBPD_(morbid/RE=mTL_miRNA)...;P_gain_phen=Xp11.22_region_(includes_HUWE1);P_gain_source=TS3:ISCA-46299|dbVar:nssv15147941|dbVar:nssv15147942|dbVar:nssv15161312|nssv15161529|dbVar:nssv15161768,.,dbVar:nssv15147941|dbVar:nssv15147942,.,.,.,.,dbVar:nssv15161768,.,.;P_gain_coord=X:53276031-53298472|X:53283514-53325284|X:53363457-53793054|X:53559549-53622547|X:53559733-53790650,.,X:53276031-53298472|X:53283514-53325284,.,.,.,.,X:53559549-53622547,.,.;P_loss_phen=Cornelia_de_Lange_syndrome_2,_300590_(3)_XLD|Developmental_and_epileptic_encephalopathy_85,_with_or_without_midline_brain_defects,_301044_(3)_XLD|HSD10_mitochondrial_disease,_300438_(3)_XLD|Intellectual_developmental_disorder,_XL_1,_309530_(3)_XLD|Intellectual_developmental_disorder,_XL_syndromic,_Turner_type,_309590_(3)_XL|Intellectual_disability,_X-linked_1,.,Intellectual_developmental_disorder,_XL_1,_309530_(3)_XLD|Intellectual_disability,_X-linked_1,.,.,.,HSD10_mitochondrial_disease,_300438_(3)_XLD,Intellectual_developmental_disorder,_XL_syndromic,_Turner_type,_309590_(3)_XL,.,.;P_loss_source=CLN:1065452|HI3:IQSEC2|HI3:SMC1A|dbVar:nssv15769470|dbVar:nssv16212358|dbVar:nssv16215156|dbVar:nssv17171530|dbVar:nssv17171900|dbVar:nssv17172048|dbVar:nssv17172462|dbVar:nssv17970926|dbVar:nssv17971164|dbVar:nssv18788536|dbVar:nssv18791522|morbid:HSD17B10|morbid:HUWE1|morbid:IQSEC2|morbid:SMC1A,dbVar:nssv16215156,CLN:1065452|HI3:IQSEC2|dbVar:nssv17171900|dbVar:nssv17172048|dbVar:nssv17172462|dbVar:nssv17970926|dbVar:nssv18791522|morbid:IQSEC2,dbVar:nssv15769470|dbVar:nssv16212358|dbVar:nssv17171530|dbVar:nssv17971164|dbVar:nssv18788536,.,.,morbid:HSD17B10,morbid:HUWE1,.,.;P_loss_coord=X:53253923-53254071|X:53262059-53350522|X:53263402-53280376|X:53264077-53264258|X:53264078-53264257|X:53270947-53271111|X:53279442-53280376|X:53295510-53310766|X:53348888-53349736|X:53401070-53449677|X:53401071-53449677|X:53430479-53432101|X:53430479-53442138|X:53435974-53442138|X:53448826-53449569|X:53449432-53449549|X:53458209-53461317|X:53559057-53713664,X:53253923-53254071,X:53262059-53350522|X:53263402-53280376|X:53264077-53264258|X:53264078-53264257|X:53270947-53271111|X:53279442-53280376|X:53295510-53310766|X:53348888-53349736,X:53430479-53432101|X:53430479-53442138|X:53435974-53442138|X:53448826-53449569|X:53449432-53449549,.,.,X:53458209-53461317,X:53559057-53713664,.,.;P_snvindel_nb=233,5,123,90,.,.,4,11,.,.;P_snvindel_phen=Abnormal_heart_valve_morphology|Congenital_muscular_hypertrophy-cerebral_syndrome|Cornelia_de_Lange_syndrome_1|Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects|Epileptic_encephalopathy|Global_developmental_delay|HSD10_mitochondrial_disease|Hirsutism|Hypertonia|Inborn_genetic_diseases|Intellectual_disability|Intellectual_disability,_X-linked_1|Intellectual_disability,_X-linked_syndromic,_Turner_type|Microcephaly|Neurodevelopmental_delay|Paraplegia-intellectual_disability-hyperkeratosis_syndrome|Progressive_sensorineural_hearing_impairment|SMC1A-related_cohesinopathy|See_cases|Severe_intellectual_deficiency|Syndromic_X-linked_intellectual_disability_Claes-Jensen_type|Undetermined_early-onset_epileptic_encephalopathy,Inborn_genetic_diseases|Syndromic_X-linked_intellectual_disability_Claes-Jensen_type,Inborn_genetic_diseases|Intellectual_disability|Intellectual_disability,_X-linked_1|Neurodevelopmental_delay|Paraplegia-intellectual_disability-hyperkeratosis_syndrome|See_cases|Severe_intellectual_deficiency|Undetermined_early-onset_epileptic_encephalopathy,Abnormal_heart_valve_morphology|Congenital_muscular_hypertrophy-cerebral_syndrome|Cornelia_de_Lange_syndrome_1|Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects|Epileptic_encephalopathy|Global_developmental_delay|Hirsutism|Hypertonia|Inborn_genetic_diseases|Intellectual_disability|Microcephaly|Progressive_sensorineural_hearing_impairment|SMC1A-related_cohesinopathy|See_cases,.,.,HSD10_mitochondrial_disease|Inborn_genetic_diseases|Neurodevelopmental_delay,Global_developmental_delay|Inborn_genetic_diseases|Intellectual_disability|Intellectual_disability,_X-linked_syndromic,_Turner_type|Neurodevelopmental_delay,.,.;B_gain_source=.,.,.,.,.,.,.,.,dbVar,dbVar;B_gain_coord=.,.,.,.,.,.,.,.,chrX:53552999-53623500,chrX:53552999-53623500;B_gain_AFmax=.,.,.,.,.,.,.,.,0.01,0.01;B_inv_source=IMH;B_inv_coord=X:46769178-84009828;B_inv_AFmax=0.128;po_B_gain_someG_source=chrX:53351112-53351177_dbVar|chrX:53471700-53477100_dbVar|chrX:53592722-53593564_dbVar|chrX:53727000-53788500_dbVar|chrX:53787836-53829639_dbVar|chrX:53803200-53918400_dbVar|;po_B_gain_someG_coord=chrX:53332800-53414100_dbVar|chrX:53470041-53488385_dbVar|chrX:53552999-53623500_dbVar|chrX:53666546-53667044_dbVar|chrX:53775999-53852000_dbVar|chrX:53800000-53808000_dbVar|chrX:53820721-53862221_dbVar;po_B_loss_someG_source=chrX:53318184-53318333_dbVar|chrX:53319071-53320350_dbVar|chrX:53414007-53419436_dbVar|chrX:53475340-53498420_dbVar|X:53478094-53491686_1000g|X:53478191-53491588_IMH|X:53478192-53491585_gnomAD-SV_v2.1_DEL_X_186301|chrX:53481193-53482847_dbVar|chrX:53485000-53555000_dbVar|X:53496417-53499888_1000g|chrX:53504537-53504627_dbVar|chrX:53513549-53520809_dbVar|chrX:53520678-53520750_dbVar|chrX:53561861-53562148_dbVar|chrX:53684764-53684885_dbVar|X:53772345-53778301_1000g|X:53772358-53778316_IMH|chrX:53776500-53781600_dbVar|chrX:53781934-53808203_dbVar|X:53792164-53792218_1000g...;po_B_loss_someG_coord=chrX:53256067-53256435_dbVar|chrX:53318309-53320696_dbVar|X:53319072-53320350_1000g|chrX:53437409-53437467_dbVar|chrX:53478093-53491686_dbVar|X:53478160-53491616_DDD:57601|chrX:53478192-53491585_dbVar|chrX:53478817-53479165_dbVar|X:53481194-53482847_1000g|chrX:53496416-53499888_dbVar|chrX:53496418-53499890_dbVar|chrX:53513441-53520776_dbVar|chrX:53513576-53513640_dbVar|chrX:53557344-53558918_dbVar|chrX:53680158-53680957_dbVar|chrX:53772344-53778301_dbVar|X:53772358-53778316_DDD:57606|chrX:53774645-53775785_dbVar|X:53776864-53777371_nsv515204|chrX:53787125-53795624_dbVar...;GC_content_left=0.42;GC_content_right=0.295;Repeat_coord_left=X:53250479-53250649;Repeat_type_left=MIRc;Repeat_coord_right=X:53855851-53856180|X:53856303-53856465;Repeat_type_right=L1MA7|L1MA7;HI=3,3,3,3,.,.,0,0,.,.;TS=.,0,0,0,.,.,0,0,.,.;DDD_HI_percent=75.6,11.71,26.16,14.23,.,75.6,21.63,10.58,.,.;ExAC_synZ=0.807946261414963,-1.20041549946446,-0.257046228208263,-0.112682658348456,.,0.80408198011521,0.807946261414963,-1.65771922174252,.,.;ExAC_misZ=9.03470791370173,5.44441583895939,4.55717824142058,6.67845368195785,.,0.293719819544616,2.17074250392365,9.03470791370173,.,.;GenCC_disease=.,X-linked_syndromic_intellectual_disability|syndromic_X-linked_intellectual_disability_Claes-Jensen_type,X-linked_complex_neurodevelopmental_disorder|intellectual_disability,_X-linked_1|non-syndromic_X-linked_intellectual_disability|severe_intellectual_disability-progressive_postnatal_microcephaly-_midline_stereotypic_hand_movements_syndrome,Cornelia_de_Lange_syndrome|Cornelia_de_Lange_syndrome_2|X-linked_complex_neurodevelopmental_disorder|atypical_Rett_syndrome|developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects,.,.,HSD10_disease,_infantile_type|HSD10_disease,_neonatal_type|HSD10_mitochondrial_disease|syndromic_X-linked_intellectual_disability_type_10,intellectual_disability,_X-linked_syndromic,_Turner_type|non-syndromic_X-linked_intellectual_disability|syndromic_intellectual_disability,.,.;GenCC_moi=.,XL|XLR,XL|XLD,AD|XL|XLD,.,.,XL|XLR,AD|XL|XLD,.,.;GenCC_classification=.,Definitive|Strong|Supportive,Definitive|Strong|Supportive,Definitive|Strong|Supportive,.,.,Definitive|Strong|Supportive,Definitive|Strong|Supportive,.,.;GenCC_pmid=.,10982473|15586325|15586325[PMID]|16538222|18203167|18697827|19826449|21575681|22326837|25666439|32279304,20473311|20473311[PMID]|21686261|23674175|23674175[PMID]|24306141|25167861|26544041|26733290|26793055|27665735|28295038|28815955|29026562|300522|30206421|30666632|31415821|31490346|31829726,16604071|17273969|20301283[PMID]|20635401|22106055|24124034|26354354|26358754|26386245|27334371|28102598|28166369|28548707|31334757|32222533[PMID],.,.,10521307|12555940|12696021|16148061|22127393|22127393[PMID],18252223|19377476|1968668|20231446|22840365|23721686|24303071|25644381|25985138|27418510|27615324|29180823|29180823[PMID],.,.;NCBI_gene_ID=.,8242,23096,8243,102465516,158787,3028,10075,407054,406889;OMIM_ID=314690|300522|300040|300256|300697,314690,300522,300040,.,.,300256,300697,.,.;OMIM_phenotype=.,Intellectual_developmental_disorder,_XL_syndromic,_Claes-Jensen_type,_300534_(3)_XLR,Intellectual_developmental_disorder,_XL_1,_309530_(3)_XLD,Cornelia_de_Lange_syndrome_2,_300590_(3)_XLD|Developmental_and_epileptic_encephalopathy_85,_with_or_without_midline_brain_defects,_301044_(3)_XLD,.,.,HSD10_mitochondrial_disease,_300438_(3)_XLD,Intellectual_developmental_disorder,_XL_syndromic,_Turner_type,_309590_(3)_XL,.,.;OMIM_inheritance=.,XLR,XLD,XLD,.,.,XLD,XL,.,.;OMIM_morbid=yes,yes,yes,yes,.,.,yes,yes,.,.;LOEUF_bin=0,0,0,0,.,1,1,0,.,.;GnomAD_pLI=1,1,0.99998,1,.,0.983,0.93604,1,.,.;ExAC_pLI=1,0.99784,0.97539,0.99999,.,0.96626,0.88687,1,.,.;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_gain_source,_+1.00)|2H-2_(HSD17B10/HUWE1/IQSEC2/SMC1A,_+0.00)|2J_(KDM5C,_+0.00)|3A_(9_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=53856257;SVLEN=605603 GT 1/. +22 18894836 . C . PASS AnnotSV_ID=22_18894836_21464119_DEL_1;SV_start=18894836;Biologist_annotation=Di_George_syndrom;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q11.21;Gene_name=DGCR6|PRODH|LOC122455341|DGCR5|FAM246C|DGCR2|DGCR11|ESS2|TSSK2|GSC2|LINC01311|SLC25A1|CLTCL1|HIRA|MRPL40|C22orf39|UFD1|CDC45|CLDN5|LINC00895|SEPTIN5|SEPT5-GP1BB|GP1BB|TBX1|GNB1L|RTL10|TXNRD2|COMT|MIR4761|ARVCF|TANGO2|MIR185|DGCR8|MIR3618|MIR1306|TRMT2A|MIR6816|RANBP1|SNORA77B|ZDHHC8|CCDC188|LINC02891|LINC00896|RTN4R|MIR1286|DGCR6L|FAM230A|GGTLC3|TMEM191B|PI4KAP1|RIMBP3|FAM246B|FAM230J|FAM230G|ZNF74|SCARF2|KLHL22|MED15|POM121L4P|TMEM191A|PI4KA|SERPIND1|SNAP29|CRKL|LINC01637|AIFM3|LZTR1|THAP7|THAP7-AS1|TUBA3FP|P2RX6|SLC7A4|MIR649|P2RX6P|LRRC74B|BCRP2,DGCR6,PRODH,LOC122455341,DGCR5,FAM246C,DGCR2,DGCR11,ESS2,TSSK2,GSC2,LINC01311,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1,CDC45,CLDN5,LINC00895,SEPTIN5,SEPT5-GP1BB,GP1BB,TBX1,GNB1L,RTL10,TXNRD2,COMT,MIR4761,ARVCF,TANGO2,MIR185,DGCR8,MIR3618,MIR1306,TRMT2A,MIR6816,RANBP1,SNORA77B,ZDHHC8,CCDC188,LINC02891,LINC00896,RTN4R,MIR1286,DGCR6L,FAM230A,GGTLC3,TMEM191B,PI4KAP1,RIMBP3,FAM246B,FAM230J,FAM230G,ZNF74,SCARF2,KLHL22,MED15,POM121L4P,TMEM191A,PI4KA,SERPIND1,SNAP29,CRKL,LINC01637,AIFM3,LZTR1,THAP7,THAP7-AS1,TUBA3FP,P2RX6,SLC7A4,MIR649,P2RX6P,LRRC74B,BCRP2;Closest_left=FAM230F;Closest_right=LOC102724728;Gene_count=76;Tx=.,NM_005675,NM_016335,NR_173081,NR_110533,NM_001396027,NM_005137,NR_024157,NM_022719,NM_053006,NM_005315,NR_103767,NM_001256534,NM_007098,NM_003325,NM_003776,NM_173793,NM_005659,NM_001178010,NM_001130861,NR_024381,NM_002688,NR_037611,NM_000407,NM_001379200,NM_053004,NM_024627,NM_006440,NM_000754,NR_039918,NM_001670,NM_001322141,NR_029706,NM_022720,NR_037412,NR_031706,NM_001331039,NR_106874,NM_001278639,NR_145765,NM_001185024,NM_001365892,NR_038460,NR_026919,NM_023004,NR_031618,NM_033257,NR_165629,NM_001355479,NM_001242313,NR_003563,NM_015672,NM_001396026,NR_136569,NR_165637,NM_001256524,NM_153334,NM_032775,NM_001003891,NR_024592,NR_026815,NM_058004,NM_000185,NM_004782,NM_005207,NR_110537,NM_144704,NM_006767,NM_030573,NR_027051,NR_003608,NM_001394691,NM_004173,NR_030379,NR_002829,NM_001291006,NR_037566;Tx_version=.,6,6,1,2,1,3,1,3,5,2,1,2,4,4,4,5,7,2,1,1,6,1,5,1,3,6,5,4,1,3,2,1,7,1,1,2,1,2,1,2,2,2,1,6,1,4,1,1,1,1,2,1,2,1,2,7,4,3,1,1,4,4,4,4,1,3,4,3,1,1,1,3,1,1,2,1;Tx_start=.,18893832,18900293,18926981,18957980,19017036,19023798,19033674,19117791,19118820,19134505,19159218,19163093,19166985,19318220,19420067,19428408,19437433,19467348,19510546,19553652,19702025,19704742,19711061,19748300,19770745,19833668,19863044,19929294,19951275,19957418,20008632,20020661,20067763,20073268,20073580,20099397,20102208,20103626,20113924,20119326,20135938,20186251,20193854,20228937,20236656,20301760,20326419,20366210,20377668,20383730,20455681,20483850,20632119,20689194,20748440,20778873,20795805,20861896,21043842,21055401,21061978,21128400,21213294,21271694,21311379,21319459,21336585,21353392,21356210,21362491,21369453,21383006,21388464,21396680,21400234,21457304;Tx_end=.,18899601,18923806,18935206,19018755,19017734,19109925,19035888,19132164,19120135,19137805,19160345,19166018,19279242,19419256,19423598,19435234,19466716,19508135,19512860,19554362,19710842,19712297,19712294,19754857,19842397,19842397,19929341,19957498,19951357,20004346,20054687,20020743,20099395,20073356,20073665,20104749,20102274,20114878,20114049,20135530,20138578,20192441,20196060,20255841,20236734,20307583,20350461,20368028,20380440,20398695,20461786,20484549,20656858,20706786,20762745,20792112,20850082,20941906,21046009,21058891,21213099,21142008,21245502,21308035,21318968,21335647,21353321,21356407,21364663,21368576,21382297,21386850,21388561,21398538,21418457,21476575;Overlapped_tx_length=.,4766,23513,8225,60775,698,86127,2214,14373,1315,3300,1127,2925,112257,101036,3531,6826,29283,40787,2314,710,8817,7555,1233,6557,71652,8729,66297,28204,82,46928,46055,82,31632,88,85,5352,66,11252,125,16204,2640,6190,2206,26904,78,5823,24042,1818,2772,14965,6105,699,24739,17592,14305,13239,54277,80010,2167,3490,151121,13608,32208,36341,7589,16188,16736,3015,8453,6085,12844,3844,97,1858,18223,6815;Overlapped_CDS_length=.,392,1803,0,0,696,1653,0,1431,1077,618,0,957,4923,3054,621,318,924,1797,912,0,1110,0,621,1515,984,1095,1575,816,0,2889,1110,0,2322,0,0,1932,0,837,0,2337,1209,0,0,1422,0,663,0,678,1041,0,4920,699,0,0,1935,2607,1905,2367,0,0,6309,1500,777,912,0,1818,2523,930,0,0,1422,1908,0,0,1179,0;Overlapped_CDS_percent=.,59,100,0,0,100,100,0,100,88,100,0,100,100,100,100,100,100,100,52,0,100,0,100,100,100,82,100,100,0,100,100,0,100,0,0,100,0,100,0,100,100,0,0,100,0,100,0,100,100,0,91,100,0,0,100,100,100,100,0,0,100,100,100,100,0,100,100,100,0,0,100,100,0,0,100,0;Frameshift=.,yes,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,5,14,2,6,3,10,1,10,1,3,1,8,33,25,4,3,12,20,1,1,12,12,2,7,8,3,18,6,1,20,9,1,14,1,1,12,1,6,1,11,9,4,1,2,1,5,12,6,9,15,1,1,9,7,6,14,7,18,1,8,55,5,5,3,2,21,21,4,2,3,12,5,1,2,10,6;Location=.,intron2-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-intron1;Location2=.,CDS-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR;Dist_nearest_SS=.,597,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,6098;Nearest_SS_type=.,5',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3';Intersect_start=.,18894835,18900293,18926981,18957980,19017036,19023798,19033674,19117791,19118820,19134505,19159218,19163093,19166985,19318220,19420067,19428408,19437433,19467348,19510546,19553652,19702025,19704742,19711061,19748300,19770745,19833668,19863044,19929294,19951275,19957418,20008632,20020661,20067763,20073268,20073580,20099397,20102208,20103626,20113924,20119326,20135938,20186251,20193854,20228937,20236656,20301760,20326419,20366210,20377668,20383730,20455681,20483850,20632119,20689194,20748440,20778873,20795805,20861896,21043842,21055401,21061978,21128400,21213294,21271694,21311379,21319459,21336585,21353392,21356210,21362491,21369453,21383006,21388464,21396680,21400234,21457304;Intersect_end=.,18899601,18923806,18935206,19018755,19017734,19109925,19035888,19132164,19120135,19137805,19160345,19166018,19279242,19419256,19423598,19435234,19466716,19508135,19512860,19554362,19710842,19712297,19712294,19754857,19842397,19842397,19929341,19957498,19951357,20004346,20054687,20020743,20099395,20073356,20073665,20104749,20102274,20114878,20114049,20135530,20138578,20192441,20196060,20255841,20236734,20307583,20350461,20368028,20380440,20398695,20461786,20484549,20656858,20706786,20762745,20792112,20850082,20941906,21046009,21058891,21213099,21142008,21245502,21308035,21318968,21335647,21353321,21356407,21364663,21368576,21382297,21386850,21388561,21398538,21418457,21464119;RE_gene=ABL1_(morbid/RE=mTL_miRNA)|ACTN4_(morbid/RE=mTL_miRNA)|ACVR2B_(morbid/RE=mTL_miRNA)|ADA2_(morbid/RE=ABC_enhancer)|ADAR_(morbid/RE=mTL_miRNA)|ADH5_(morbid/RE=mTL_miRNA)|AFF2_(HI=3/morbid/RE=mTL_miRNA)|AGO1_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AHI1_(morbid/RE=mTL_miRNA)|AKT1_(morbid/RE=mTL_miRNA)|ALG1_(morbid/RE=mTL_miRNA)|AMH_(morbid/RE=mTL_miRNA)|APCDD1_(morbid/RE=mTL_miRNA)|AR_(HI=3/morbid/RE=mTL_miRNA)|ARID1A_(HI=3/morbid/RE=mTL_miRNA)|ASH1L_(HI=3/morbid/RE=mTL_miRNA)|ATM_(HI=3/morbid/RE=mTL_miRNA)|ATP6AP1_(morbid/RE=mTL_miRNA)|ATP6V0A2_(morbid/RE=mTL_miRNA)|ATP6V1E1_(morbid/RE=ABC_enhancer)|ATR_(morbid/RE=mTL_miRNA)|B4GALT1_(morbid/RE=mTL_miRNA)|BACH1_(morbid/RE=mTL_miRNA)|BAP1_(HI=3/morbid/RE=mTL_miRNA)|BBS5_(morbid/RE=mTL_miRNA)|BCL10_(morbid/RE=mTL_miRNA)|BMPR1A_(HI=3/morbid/RE=mTL_miRNA)|BNC2_(morbid/RE=mTL_miRNA)|BRD4_(morbid/RE=mTL_miRNA)|C3_(morbid/RE=mTL_miRNA)|CACNA1C_(morbid/RE=mTL_miRNA)|CAD_(morbid/RE=mTL_miRNA)|CALM3_(morbid/RE=mTL_miRNA)|CAPN15_(morbid/RE=mTL_miRNA)|CASP14_(morbid/RE=mTL_miRNA)|CBL_(morbid/RE=mTL_miRNA)|CCDC134_(morbid/RE=mTL_miRNA)|CCND2_(morbid/RE=mTL_miRNA)|CCNQ_(morbid/RE=mTL_miRNA)|CDC42_(morbid/RE=mTL_miRNA)|CEP104_(morbid/RE=mTL_miRNA)|CERS1_(morbid/RE=mTL_miRNA)|CHRDL1_(HI=3/morbid/RE=mTL_miRNA)|CLCC1_(morbid/RE=mTL_miRNA)|CLCN7_(morbid/RE=mTL_miRNA)|CLDN16_(morbid/RE=mTL_miRNA)|CLPB_(morbid/RE=mTL_miRNA)|CNBP_(morbid/RE=mTL_miRNA)|CNNM4_(morbid/RE=mTL_miRNA)...;P_gain_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-B)_(includes_TBX1);P_gain_source=TS3:ISCA-37433|dbVar:nssv15121202|dbVar:nssv15132168|dbVar:nssv15132429|dbVar:nssv15132430|dbVar:nssv15132553|dbVar:nssv15132642|nssv15139997|dbVar:nssv15132749|dbVar:nssv15133139|dbVar:nssv15133442|dbVar:nssv15133527|dbVar:nssv15133528|dbVar:nssv15133531|dbVar:nssv15133921|dbVar:nssv15134211|dbVar:nssv15134239|dbVar:nssv15134353|dbVar:nssv15136015|dbVar:nssv15137439|dbVar:nssv15138177|dbVar:nssv15138869|dbVar:nssv15140282|dbVar:nssv15141369|dbVar:nssv15153269|dbVar:nssv15156361|dbVar:nssv15605811|dbVar:nssv15605831|dbVar:nssv15605876|dbVar:nssv15755816|dbVar:nssv16207465|dbVar:nssv16736612|dbVar:nssv16736616|dbVar:nssv18830899|dbVar:nssv18830992;P_gain_coord=22:18894836-20311784|22:18894836-21461752|22:18894836-21464119|22:18896973-21440514|22:18900756-21075586|22:18908833-21358123|22:18909039-21440514|22:18909045-21464119|22:18912232-20287208|22:18912515-21431174|22:18916828-21050078|22:18916829-20312661|22:18916843-20311810|22:18916843-20311858|22:18916843-20312661|22:18919943-20311763|22:18919943-20659606|22:18919943-20708934|22:18919943-21440514|22:18923899-21431174|22:18937381-21459713|22:18938162-21455556|22:18950767-21455556|22:18970562-21040836|22:18973253-21435405|22:19168759-20942862|22:20895156-21374512|22:20958985-21379958|22:21044197-21440455|22:21045039-21455556|22:21065883-21440455|22:21081261-21440455|22:21086707-21445960|22:21300291-21331188;P_loss_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-B)_(includes_TBX1)|Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR|Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome,_609528_(3)_AR|Combined_D-2-_and_L-2-hydroxyglutaric_aciduria,_615182_(3)_AR|Myasthenic_syndrome,_congenital,_23,_presynaptic,_618197_(3)_AR|Conotruncal_anomaly_face_syndrome,_217095_(3)|DiGeorge_syndrome,_188400_(3)_AD|Tetralogy_of_Fallot,_187500_(3)_AD|Velocardiofacial_syndrome,_192430_(3)_AD|Gastrointestinal_defects_and_immunodeficiency_syndrome_2,_619708_(3)_AR|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,_616531_(3)_AR|Spastic_paraplegia_84,_AR,_619621_(3)_AR|Hyperprolinemia,_type_I,_239500_(3)_AR|Schizophrenia,_susceptibility_to,_4,_600850_(3)_AD|Metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration,_616878_(3)_AR|Noonan_syndrome_10,_616564_(3)_AD|Noonan_syndrome_2,_605275_(3)_AR|Schwannomatosis-2,_susceptibility_to,_615670_(3)_AD|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Cardiac_arrhythmia|Seizure|Acute_rhabdomyolysis|Episodic_flaccid_weakness|Intellectual_disability|Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD|Van_den_Ende-Gupta_syndrome,_600920_(3)_AR||DiGeorge_syndrome,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR,Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR,Conotruncal_anomaly_face_syndrome,_217095_(3)|DiGeorge_syndrome,_188400_(3)_AD|Tetralogy_of_Fallot,_187500_(3)_AD|Velocardiofacial_syndrome,_192430_(3)_AD||DiGeorge_syndrome,.,.,.,.,.,.,Metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration,_616878_(3)_AR|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Cardiac_arrhythmia|Seizure|Acute_rhabdomyolysis|Episodic_flaccid_weakness|Intellectual_disability,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Van_den_Ende-Gupta_syndrome,_600920_(3)_AR,.,.,.,.,Gastrointestinal_defects_and_immunodeficiency_syndrome_2,_619708_(3)_AR|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,_616531_(3)_AR|Spastic_paraplegia_84,_AR,_619621_(3)_AR|Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD,Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD,Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome,_609528_(3)_AR,.,.,.,Noonan_syndrome_10,_616564_(3)_AD|Noonan_syndrome_2,_605275_(3)_AR|Schwannomatosis-2,_susceptibility_to,_615670_(3)_AD,.,.,.,.,.,.,.,.,.;P_loss_hpo=HP:0000730|HP:0001249|HP:0001250|HP:0001267|HP:0001275|HP:0001286|HP:0001303|HP:0001656|HP:0001661|HP:0001665|HP:0001666|HP:0001687|HP:0001721|HP:0002122|HP:0002125|HP:0002182|HP:0002192|HP:0002279|HP:0002306|HP:0002316|HP:0002348|HP:0002382|HP:0002386|HP:0002391|HP:0002402|HP:0002417|HP:0002430|HP:0002431|HP:0002432|HP:0002434|HP:0002437|HP:0002458|HP:0002466|HP:0002479|HP:0002482|HP:0002499|HP:0002543|HP:0002794|HP:0003752|HP:0003767|HP:0004351|HP:0005158|HP:0006833|HP:0006997|HP:0007154|HP:0007176|HP:0007180|HP:0008942|HP:0010520|HP:0011675,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,HP:0000730|HP:0001249|HP:0001250|HP:0001267|HP:0001275|HP:0001286|HP:0001303|HP:0001656|HP:0001661|HP:0001665|HP:0001666|HP:0001687|HP:0001721|HP:0002122|HP:0002125|HP:0002182|HP:0002192|HP:0002279|HP:0002306|HP:0002316|HP:0002348|HP:0002382|HP:0002386|HP:0002391|HP:0002402|HP:0002417|HP:0002430|HP:0002431|HP:0002432|HP:0002434|HP:0002437|HP:0002458|HP:0002466|HP:0002479|HP:0002482|HP:0002499|HP:0002543|HP:0002794|HP:0003752|HP:0003767|HP:0004351|HP:0005158|HP:0006833|HP:0006997|HP:0007154|HP:0007176|HP:0007180|HP:0008942|HP:0010520|HP:0011675,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_source=CLN:226591|CLN:2871255|CLN:959024|HI3:ISCA-37433|dbVar:nssv15119864|dbVar:nssv15120710|dbVar:nssv15124351|dbVar:nssv15124515|dbVar:nssv15129189|dbVar:nssv15130834|dbVar:nssv15130929|dbVar:nssv15131088|dbVar:nssv15131611|dbVar:nssv15132323|nssv15139981|dbVar:nssv15132334|dbVar:nssv15132747|dbVar:nssv15132748|dbVar:nssv15132933|dbVar:nssv15132934|dbVar:nssv15132935|dbVar:nssv15132939|dbVar:nssv15133099|dbVar:nssv15133185|dbVar:nssv15133186|dbVar:nssv15133443|dbVar:nssv15133817|dbVar:nssv15134350|nssv15139984|dbVar:nssv15134354|dbVar:nssv15134360|dbVar:nssv15134361|dbVar:nssv15134635|dbVar:nssv15134703|dbVar:nssv15134820|dbVar:nssv15134849|dbVar:nssv15136233|dbVar:nssv15137726|dbVar:nssv15137759|dbVar:nssv15137802|dbVar:nssv15138106|dbVar:nssv15138475|dbVar:nssv15139405|dbVar:nssv15139434|dbVar:nssv15139445|nssv15774763|dbVar:nssv15139759|dbVar:nssv15140043|dbVar:nssv15140048|dbVar:nssv15140057|dbVar:nssv15141198|dbVar:nssv15141722|dbVar:nssv15142496|dbVar:nssv15143197|dbVar:nssv15143645|dbVar:nssv15144279|dbVar:nssv15144449|dbVar:nssv15153165|dbVar:nssv15154011|dbVar:nssv15155693|dbVar:nssv15156360|dbVar:nssv15162020|dbVar:nssv15162021|dbVar:nssv15605807|dbVar:nssv15605829|dbVar:nssv15605830|nssv16216546|dbVar:nssv15605834|dbVar:nssv15755310|dbVar:nssv15755712|dbVar:nssv15755812|dbVar:nssv15770037|dbVar:nssv15770783|dbVar:nssv15770877|dbVar:nssv15772938|nssv15773614|nssv15775115|nssv15775184|nssv15775592|dbVar:nssv15772982|dbVar:nssv15775129|dbVar:nssv15776509|dbVar:nssv15776863|dbVar:nssv15776865|dbVar:nssv15776871|dbVar:nssv16208595|dbVar:nssv16208596|dbVar:nssv16212111|dbVar:nssv16213307|dbVar:nssv16213808|dbVar:nssv16214784|dbVar:nssv16215255|dbVar:nssv16215257|dbVar:nssv16216543|dbVar:nssv16216544|nssv8639845|nssv15161831|dbVar:nssv16254574|dbVar:nssv16254739|dbVar:nssv16255831|dbVar:nssv16736634|dbVar:nssv17171460|nssv17974163|dbVar:nssv17171461|dbVar:nssv17171462|dbVar:nssv17171559|dbVar:nssv17171582|dbVar:nssv17171772|dbVar:nssv17649936|dbVar:nssv17649973|dbVar:nssv17955605|dbVar:nssv17955606|dbVar:nssv17955868|dbVar:nssv17970829|dbVar:nssv17971092|dbVar:nssv17971094|dbVar:nssv17971356|dbVar:nssv17971399|dbVar:nssv17977042|dbVar:nssv18329601|dbVar:nssv18329824|dbVar:nssv18330264|dbVar:nssv18330322|dbVar:nssv18330820|dbVar:nssv18786380|dbVar:nssv18790095|dbVar:nssv18792883|dbVar:nssv18841927|nssv18830898|dbVar:nssv8639589|nssv15122532|morbid:GP1BB|morbid:LZTR1|morbid:PI4KA|morbid:PRODH|morbid:SCARF2|morbid:SERPIND1|morbid:SLC25A1|morbid:SNAP29|morbid:TANGO2|morbid:TBX1,.,dbVar:nssv17649973|dbVar:nssv17971399,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar:nssv15124515,.,.,.,dbVar:nssv17977042|morbid:GP1BB,dbVar:nssv17977042|morbid:GP1BB,CLN:959024|morbid:TBX1,.,.,.,.,.,.,CLN:226591|dbVar:nssv15770877|dbVar:nssv15772938|nssv15773614|nssv15775115|nssv15775184|nssv15775592|dbVar:nssv15772982|dbVar:nssv15775129|dbVar:nssv16216543|dbVar:nssv17171772|dbVar:nssv17971094|dbVar:nssv18790095|dbVar:nssv8639589|nssv15122532|morbid:TANGO2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,morbid:SCARF2,.,.,.,.,morbid:PI4KA|morbid:SERPIND1,morbid:SERPIND1,morbid:SNAP29,.,.,.,CLN:2871255|dbVar:nssv17171582|dbVar:nssv17971092|morbid:LZTR1,.,.,.,.,.,.,.,.,.;P_loss_coord=22:18894836-20238206|22:18894836-20311763|22:18894836-20659606|22:18894836-21440514|22:18894836-21461752|22:18894836-21461811|22:18894836-21464119|22:18896973-20311763|22:18896973-21382953|22:18896973-21440514|22:18899288-18925066|22:18900294-18924066|22:18900295-18923806|22:18900443-21440514|22:18900669-18923820|22:18900669-19747220|22:18900669-19770565|22:18900689-21351637|22:18900896-18923882|22:18901005-21408430|22:18905110-19015451|22:18910311-18923800|22:18910311-18923820|22:18910311-19770565|22:18912232-20287208|22:18912404-21431174|22:18912871-21431174|22:18915348-21463730|22:18916828-20311858|22:18916829-20312661|22:18916829-21041014|22:18916829-21049800|22:18916843-19004772|22:18916843-20310938|22:18916843-20311858|22:18916843-20312661|22:18916843-20716903|22:18916843-20767095|22:18916843-21011216|22:18916843-21033371|22:18916843-21075592|22:18916844-20311858|22:18916844-21033401|22:18916844-21075592|22:18918742-20311922|22:18919580-21460595|22:18919943-20311763|22:18919943-20659606|22:18919943-20708934|22:18919943-21025713|22:18919943-21440514|22:18922152-21449911|22:18938162-20229017|22:18938162-20996250|22:18938162-21455556|22:18962314-21455556|22:18973253-21435405|22:18999804-21455499|22:18999804-21455556|22:19016664-21463730|22:19023802-21440455|22:19023802-21440514|22:19035018-21461811|22:19035324-21464119|22:19036287-21208284|22:19058830-21440514|22:19156118-19529130|22:19163094-19166249|22:19163624-19770565|22:19184001-21416024|22:19336599-21208828|22:19470352-19481849|22:19647906-21153690|22:19709401-21142058|22:19709436-19712313|22:19709952-19963280|22:19710419-21142058|22:19711062-19712294|22:19711829-19711877|22:19743227-19755855|22:19743425-19747210|22:19743425-19754400|22:19743425-19770565|22:19743474-19747220|22:19747168-19754390|22:19748301-19754857|22:19748451-19748647|22:20008633-20054687|22:20027161-20063237|22:20028564-20053554|22:20028990-20062723|22:20028993-20062955|22:20029136-20062954|22:20029701-20062756|22:20030823-20041691|22:20030823-20053554|22:20030859-20052185|22:20030879-20049206|22:20030879-20052185|22:20036383-20045782|22:20036384-20045781|22:20036385-20045784|22:20039969-20043556|22:20708891-21407690|22:20718171-21427936|22:20733496-21463730|22:20745763-21460658|22:20754408-21440515|22:20754408-21457610|22:20754423-21461752|22:20778874-20792112|22:20921343-21459713|22:21061979-21213099|22:21062169-21463730|22:21062567-21463730|22:21065883-21455556|22:21067570-21414817|22:21069074-21463730|22:21074921-21440514|22:21075576-21454721|22:21081285-21457610|22:21128401-21142008|22:21213295-21245502|22:21335907-21346541|22:21336586-21353321|22:21336662-21337398|22:21336662-21351637|22:21348908-21348985,.,22:18900295-18923806|22:18910311-18923800,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,22:19470352-19481849,.,.,.,22:19711062-19712294|22:19711829-19711877,22:19711062-19712294|22:19711829-19711877,22:19748301-19754857|22:19748451-19748647,.,.,.,.,.,.,22:20008633-20054687|22:20028564-20053554|22:20030823-20041691|22:20030823-20053554|22:20030859-20052185|22:20030879-20049206|22:20030879-20052185|22:20036383-20045782|22:20036384-20045781|22:20036385-20045784|22:20039969-20043556,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,22:20778874-20792112,.,.,.,.,22:21061979-21213099|22:21128401-21142008,22:21128401-21142008,22:21213295-21245502,.,.,.,22:21336586-21353321|22:21336662-21337398|22:21336662-21351637|22:21348908-21348985,.,.,.,.,.,.,.,.,.;P_ins_source=CLN:1349334|dbVar:nssv17974796,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,CLN:1349334|dbVar:nssv17974796,.,.,.,.,.,.,.,.,.;P_ins_coord=22:21337344-21337343|22:21337344-21337456,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,22:21337344-21337343|22:21337344-21337456,.,.,.,.,.,.,.,.,.;po_P_gain_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-D)_(includes_TBX1);po_P_gain_source=dbVar:nssv15161990|dbVar:nssv15139753|dbVar:nssv15150031|dbVar:nssv15150491|dbVar:nssv15146973|dbVar:nssv15135173|dbVar:nssv15137211|dbVar:nssv15129128|dbVar:nssv15161991|dbVar:nssv15161992|dbVar:nssv15164031|dbVar:nssv16254742|dbVar:nssv16297047|dbVar:nssv15151140|nssv16207460|dbVar:nssv15141953|dbVar:nssv15156366|nssv15772157|dbVar:nssv17976875|dbVar:nssv16207463|dbVar:nssv16296938|dbVar:nssv16207464|dbVar:nssv15774756|dbVar:nssv18329565|dbVar:nssv15149512|nssv15150794|dbVar:nssv15139758|dbVar:nssv15755803|dbVar:nssv15774287|dbVar:nssv15605979|dbVar:nssv15139756|dbVar:nssv15605980|dbVar:nssv15137771|dbVar:nssv15132295|dbVar:nssv15133039|dbVar:nssv15133301|dbVar:nssv15132518|dbVar:nssv15134365|dbVar:nssv15146613|dbVar:nssv15133111|dbVar:nssv15147269|dbVar:nssv15121201|dbVar:nssv15136264|dbVar:nssv15605803|dbVar:nssv15605804|dbVar:nssv16736606|dbVar:nssv15128891|dbVar:nssv15126571|dbVar:nssv15128500|dbVar:nssv16254735|dbVar:nssv15140068|dbVar:nssv15137505|dbVar:nssv15128758|dbVar:nssv15152138|dbVar:nssv15154014|dbVar:nssv15755815|dbVar:nssv15755817|dbVar:nssv16255668|dbVar:nssv18329661|dbVar:nssv18330205|dbVar:nssv15156359|dbVar:nssv15142823|dbVar:nssv15140066|dbVar:nssv15133432|dbVar:nssv15605805|dbVar:nssv15605808|dbVar:nssv15605806|dbVar:nssv15132858|dbVar:nssv15133520|dbVar:nssv15132127|dbVar:nssv15133128|dbVar:nssv15136566|dbVar:nssv15133389|dbVar:nssv15140044|dbVar:nssv15133925|dbVar:nssv15138146|dbVar:nssv15133393|nssv15139545|dbVar:nssv15135020|dbVar:nssv15132566|dbVar:nssv15164039|dbVar:nssv17955656|dbVar:nssv15132423|dbVar:nssv15132330|dbVar:nssv15126758|dbVa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8.08|98.05|98.94|99.08|98.81|99.34|99.24|99.43|99.69|56.67|99.81|99.82|98.25|96.18|99.87|99.80|93.79|99.84|99.84|99.91|99.94|99.96|99.96|99.98|99.98|98.42|98.42|96.35|88.17|88.42|99.94|84.78|99.94|88.20|99.94|99.94|99.94|88.38|88.21|99.94|98.40|96.31|88.29|88.06|96.31|99.97|99.94|99.94|66.78|96.11|84.09|99.96|91.60|99.79|16.39|95.23|94.50|26.11|91.39|33.45|31.88|29.84|90.26|1.24|2.81;po_P_loss_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-D)_(includes_TBX1);po_P_loss_source=dbVar:nssv15134634|dbVar:nssv16208592|dbVar:nssv16208593|dbVar:nssv15141423|dbVar:nssv15132388|dbVar:nssv15128094|dbVar:nssv15132068|dbVar:nssv15133055|dbVar:nssv18787557|nssv18791888|dbVar:nssv16207650|dbVar:nssv15153272|dbVar:nssv15135754|dbVar:nssv15133431|nssv15139986|dbVar:nssv15125556|dbVar:nssv15126775|dbVar:nssv15133864|dbVar:nssv15755811|dbVar:nssv15755813|dbVar:nssv18326404|dbVar:nssv15126915|dbVar:nssv15128185|dbVar:nssv15145459|dbVar:nssv15145460|dbVar:nssv15138286|dbVar:nssv15154015|nssv18326430|dbVar:nssv18330227|dbVar:nssv17976889|dbVar:nssv17976891|dbVar:nssv15153273|dbVar:nssv18330460|dbVar:nssv17976888|dbVar:nssv15145461|dbVar:nssv15138328|dbVar:nssv17976880|dbVar:nssv15154017|dbVar:nssv18329577|dbVar:nssv15140316|dbVar:nssv15133433|dbVar:nssv18326382|dbVar:nssv17955872|dbVar:nssv15133434|dbVar:nssv16255835|dbVar:nssv15132708|dbVar:nssv15134184|dbVar:nssv15132128|nssv15139349|dbVar:nssv15134982|dbVar:nssv15135883|dbVar:nssv15133394|nssv16091745|dbVar:nssv15132006|nssv15139990|dbVar:nssv15137884|dbVar:nssv15133435|dbVar:nssv18792765|dbVar:nssv15135454|dbVar:nssv15133438|nssv15140028|dbVar:nssv15132230|nssv15139684|dbVar:nssv15132655|nssv15139976|dbVar:nssv15136079|dbVar:nssv15132507|nssv15139975|dbVar:nssv15132389|dbVar:nssv17976452|dbVar:nssv15164040|dbVar:nssv15137872|dbVar:nssv16254738|dbVar:nssv15127636|dbVar:nssv15128166|dbVar:nssv15127784|dbVar:nssv16208773|dbVar:nssv15145231|dbVar:nssv15145040|dbVar:nssv18786377|dbVar:nssv15145232|dbVar:nssv15139558|dbVar:nssv15163611|dbVar:nssv16215256|dbVar:nssv15128065|dbVar:nssv17955534|dbVar:nssv15163612|dbVar:nssv15145462|dbVar:nssv15145233|dbVar:nssv15163613|dbVar:nssv15132390|dbVar:nssv15163614|dbVar:nssv15162012|dbVar:nssv15139255|dbVar:nssv15162013|dbVar:nssv15162015|dbVar:nssv17976449|dbVar:nssv17955549|dbVar:nssv15162016|nssv16215222|nssv16215239|nssv16865884|dbVar:nssv15162017|dbVar:nssv15164042|dbVar:nssv15143222|dbVar:nssv15162018|dbVar:nssv16865881|dbVar:nssv15164043|dbVar:nssv15755824|dbVar:nssv17650004|dbVar:nssv17649858|dbVar:nssv16297048|dbVar:nssv17517456|dbVar:nssv15141730|dbVar:nssv15126093|dbVar:nssv15125439|dbVar:nssv15755804|dbVar:nssv15121171|dbVar:nssv15133439|dbVar:nssv15132392|dbVar:nssv15132132|dbVar:nssv15133440|dbVar:nssv15136213|dbVar:nssv15605874|nssv15605879|dbVar:nssv17976881|dbVar:nssv15119655|dbVar:nssv18842051|dbVar:nssv17173212|dbVar:nssv17173202|dbVar:nssv18792648|dbVar:nssv16091922|dbVar:nssv15143862|dbVar:nssv17976675|dbVar:nssv18830700|dbVar:nssv18786378|dbVar:nssv18786379|dbVar:nssv15140698|dbVar:nssv15139562|dbVar:nssv15140747|dbVar:nssv15140051|dbVar:nssv15133317|nssv15143213|dbVar:nssv15131926|dbVar:nssv15605919|dbVar:nssv15755810|HI3:ISCA-37446|dbVar:nssv15139269|dbVar:nssv15137499|dbVar:nssv15138712|dbVar:nssv18330193|dbVar:nssv15139855|nssv18326386|dbVar:nssv15139854|nssv15153270|dbVar:nssv15154016|nssv17976890|dbVar:nssv15152149|dbVar:nssv15137491|dbVar:nssv18330326|dbVar:nssv18329598|dbVar:nssv18330218|dbVar:nssv15141653|dbVar:nssv15142207|dbVar:nssv15755814|dbVar:nssv15132248|nssv15139690|dbVar:nssv15134351|dbVar:nssv15132463|nssv15139699|dbVar:nssv15132523|dbVar:nssv15155695|dbVar:nssv18831006|dbVar:nssv17976279|dbVar:nssv15139289|dbVar:nssv15139467|dbVar:nssv15142401|dbVar:nssv15134356|dbVar:nssv18330006|dbVar:nssv15137446|dbVar:nssv17976741|dbVar:nssv15153268|dbVar:nssv15156357|dbVar:nssv18842023|dbVar:nssv15132608|dbVar:nssv15145465|dbVar:nssv15145466|dbVar:nssv15145235|dbVar:nssv15772502|dbVar:nssv15154008|dbVar:nssv15156354|dbVar:nssv15755308|nssv15755309|dbVar:nssv15155696|dbVar:nssv18330327|dbVar:nssv18326378|dbVar:nssv18329593|dbVar:nssv18330275|dbVar:nssv18329587|dbVar:nssv18329620|dbVar:nssv17956682|dbVar:nssv15776637|dbVar:nssv17649919|dbVar:nssv18326434|dbVar:nssv18326440|dbVar:nssv15120712|dbVar:nssv15139564|dbVar:nssv16208598|dbVar:nssv15755307|dbVar:nssv15156347|dbVar:nssv18330257|dbVar:nssv15755311|dbVar:nssv17957425|dbVar:nssv15121593|dbVar:nssv15154007|dbVar:nssv15134856|dbVar:nssv18330729|dbVar:nssv18330196|dbVar:nssv17977102;po_P_loss_coord=22:16087695-19363465|22:16888900-20125005|22:16888900-20730144|22:16888901-20026751|22:17019016-20718227|22:17177912-19892632|22:17397499-20311763|22:17397499-20708934|22:17565983-20052185|22:18475386-23764120|22:18626109-21800797|22:18628020-21464119|22:18628020-21505417|22:18628133-21561468|22:18628133-21883879|22:18628148-21440515|22:18631365-21800471|22:18636750-21800471|22:18639781-21910280|22:18641480-21712996|22:18641480-21722262|22:18642647-21717111|22:18642647-21742277|22:18644242-21465662|22:18644543-21465659|22:18644544-21800797|22:18644791-21798907|22:18644791-21800471|22:18644791-21915509|22:18644792-21041014|22:18645354-21800797|22:18646694-21631412|22:18648857-21465662|22:18648867-21798907|22:18648867-21800797|22:18648868-21465659|22:18650665-21440455|22:18650676-21455556|22:18655799-21726191|22:18660136-21737597|22:18660554-21455556|22:18661700-21457610|22:18661700-21505445|22:18661725-20659606|22:18661725-21440514|22:18661725-21461811|22:18661725-21464119|22:18661725-21505417|22:18661725-21561514|22:18661725-21809009|22:18671630-21536841|22:18689517-21588615|22:18706002-20311763|22:18706002-20659606|22:18706002-21025713|22:18706002-21440514|22:18706002-21464119|22:18706002-21505417|22:18706002-21809009|22:18718029-21326012|22:18728119-21811991|22:18765086-21661435|22:18765103-21661435|22:18788000-21065894|22:18788000-21468378|22:18788000-21684798|22:18789966-21591197|22:18790223-21697998|22:18820423-21477877|22:18834446-21414817|22:18834453-21575702|22:18844633-21463730|22:18844633-21608479|22:18844633-21797812|22:18848021-21468378|22:18861210-21630630|22:18861749-21463730|22:18868433-20331055|22:18868433-21477877|22:18872509-21465050|22:18874457-20306317|22:18875870-21470273|22:18875957-21466715|22:18876631-21465659|22:18878410-21465050|22:18878410-21907671|22:18884515-21484289|22:18884715-21483289|22:18886916-21463730|22:18886916-21465050|22:18886916-21467387|22:18886916-21811991|22:18889491-20312668|22:18889491-21463730|22:18889491-21466715|22:18889491-21917190|22:18889572-21464697|22:18889694-21465485|22:18889951-21466053|22:18889970-21462658|22:18890043-21440455|22:18890163-21464056|22:18890222-21561468|22:18890265-21540347|22:18890272-18999862|22:18890272-20328113|22:18890272-20659606|22:18890272-21394730|22:18890272-21461811|22:18891527-21796215|22:18892576-21460220|22:18893345-21650280|22:18893736-18924066|22:18893839-20307561|22:18893883-21563420|22:18893883-21571027|22:18893887-21386103|22:18893888-18923800|22:18893889-18973671|22:18893889-21414817|22:18893889-21481925|22:18893889-21570386|22:18894079-21414817|22:18894340-20255110|22:18894340-20255154|22:18894340-21440455|22:18894340-21440514|22:18894836-21505417|22:18894836-21561514|22:18900756-21800277|22:18912232-21465672|22:18912232-21465672|22:18916828-21465662|22:18916829-21465659|22:18916829-21465662|22:18916829-21800797|22:18916843-21465659|22:18916843-21465662|22:18916843-21798907|22:18916843-21804716|22:18916843-21804886|22:18916844-21465659|22:18916844-21800471|22:18916844-21915509|22:18917048-21465659|22:18917048-21465662|22:18919478-21800471|22:18919943-21505417|22:18919943-21505558|22:18919943-21561514|22:18919943-21809009|22:18935464-21465659|22:18936190-21464809|22:18936191-21464809|22:18970562-21465662|22:19024657-21465659|22:19024658-21465662|22:19029603-21505417|22:19046678-21465662|22:20279767-23822986|22:20310411-21804886|22:20311904-21465659|22:20311904-21800797|22:20609933-21576553|22:20659548-21561514|22:20703817-21503296|22:20703817-21631412|22:20713276-21477877|22:20716877-21465659|22:20716877-21465662|22:20716877-21798907|22:20716877-21800471|22:20716877-23819697|22:20716878-21465659|22:20725309-21465659|22:20725310-21804563|22:20725319-21800797|22:20728958-21798907|22:20728958-21800797|22:20728958-21915096|22:20729389-21465662|22:20730997-21465342|22:20732809-21465659|22:20732809-21800471|22:20733428-21505417|22:20749626-23972878|22:21029656-22481498|22:21033587-21800471|22:21049800-21465662|22:21049801-21465662|22:21059670-21800471|22:21059670-21804716|22:21065883-21937680|22:21075676-21465662|22:21081261-24593820|22:21092649-21465662|22:21188488-21804597|22:21462567-22962196;po_P_loss_percent=14.31|38.01|47.78|36.07|49.29|36.76|48.62|54.78|46.55|48.58|80.93|90.59|89.29|87.59|78.92|90.52|81.07|81.21|78.56|83.65|83.40|83.57|82.89|91.06|91.07|81.40|81.46|81.42|78.55|89.57|81.42|86.08|91.21|81.56|81.51|91.21|91.25|91.30|83.68|83.49|91.62|91.66|90.35|88.33|91.61|91.67|91.68|90.35|88.60|81.63|89.67|88.62|88.24|90.33|91.86|93.09|93.15|91.78|82.80|93.22|83.31|88.71|88.71|95.31|95.86|88.69|91.72|88.36|96.68|97.66|93.73|98.08|92.96|87.00|98.05|92.77|98.73|98.19|98.46|99.10|98.58|99.03|99.17|99.24|99.33|84.82|98.83|98.87|99.69|99.66|99.57|87.84|99.62|99.79|99.69|84.86|99.77|99.75|99.74|99.81|99.81|99.82|96.18|96.95|95.84|99.68|99.74|99.82|99.82|88.45|99.91|93.19|96.37|99.93|96.24|95.97|99.96|96.83|98.81|99.96|99.28|95.99|99.97|99.96|99.96|99.98|99.98|98.42|96.35|88.41|99.94|99.94|99.94|99.94|99.94|88.33|99.94|99.94|88.38|88.21|88.20|99.94|88.34|84.95|99.94|99.94|88.33|98.40|98.40|96.31|88.06|99.94|99.97|99.97|99.94|99.94|99.94|98.33|99.94|33.43|77.20|99.87|77.39|88.37|89.20|95.10|81.96|98.20|99.79|99.79|69.06|68.96|24.08|99.79|99.79|68.46|68.70|68.71|68.59|61.98|99.79|99.83|99.79|68.50|94.65|22.17|29.92|56.14|99.63|99.63|54.60|54.29|45.68|99.60|10.90|99.59|44.74|0.10;P_snvindel_nb=382,.,9,.,.,.,.,.,.,.,.,.,9,.,.,.,.,.,7,1,.,.,9,9,21,.,.,.,1,.,.,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,.,.,.,.,8,.,10,.,.,.,287,.,.,.,.,.,.,.,.,.;P_snvindel_phen=2-hydroxyglutaric_aciduria|Abnormality_of_metabolism/homeostasis|Acute_rhabdomyolysis|Autism_spectrum_disorder|Bardet-Biedl_syndrome|Bernard_Soulier_syndrome|CEDNIK_syndrome|CLDN5-related_neurodevelopmental_disorder|Cardiac_arrhythmia|Cardiovascular_phenotype|D,L-2-hydroxyglutaric_aciduria|DiGeorge_syndrome|Episodic_flaccid_weakness|Fetal_cystic_hygroma|Hereditary_cancer-predisposing_syndrome|Hypomyelinating_leukodystrophy_2|Inborn_genetic_diseases|Intellectual_disability|LZTR1-related_condition|LZTR1-related_disorders|Macrothrombocytopenia|Meier-Gorlin_syndrome_7|Metabolic_crises_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration|Mild_macrothrombocytopenia|Myasthenic_syndrome,_congenital,_23,_presynaptic|Noonan_syndrome|Noonan_syndrome_10|Noonan_syndrome_2|Noonan_syndrome_and_Noonan-related_syndrome|PI4KA-Related_Disorders|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis|Proline_dehydrogenase_deficiency|RASopathy|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|SLC25A1-related_condition|Schwannomatosis|Schwannomatosis_2|See_cases|Seizure|Short_stature|Spastic_paraplegia_84,_autosomal_recessive|Thrombocytopenia|Van_den_Ende-Gupta_syndrome|Velocardiofacial_syndrome,.,Inborn_genetic_diseases|Proline_dehydrogenase_deficiency,.,.,.,.,.,.,.,.,.,2-hydroxyglutaric_aciduria|D,L-2-hydroxyglutaric_aciduria|Inborn_genetic_diseases|Myasthenic_syndrome,_congenital,_23,_presynaptic|SLC25A1-related_condition,.,.,.,.,.,Meier-Gorlin_syndrome_7,CLDN5-related_neurodevelopmental_disorder,.,.,Bernard_Soulier_syndrome|Macrothrombocytopenia|Mild_macrothrombocytopenia|Thrombocytopenia,Bernard_Soulier_syndrome|Macrothrombocytopenia|Mild_macrothrombocytopenia|Thrombocytopenia,DiGeorge_syndrome|Inborn_genetic_diseases|Velocardiofacial_syndrome,.,.,.,Bardet-Biedl_syndrome,.,.,Abnormality_of_metabolism/homeostasis|Acute_rhabdomyolysis|Cardiac_arrhythmia|Episodic_flaccid_weakness|Inborn_genetic_diseases|Intellectual_disability|Metabolic_crises_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Seizure,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Van_den_Ende-Gupta_syndrome,.,.,.,.,PI4KA-Related_Disorders|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis|Spastic_paraplegia_84,_autosomal_recessive,.,CEDNIK_syndrome|Hypomyelinating_leukodystrophy_2,.,.,.,Autism_spectrum_disorder|Cardiovascular_phenotype|Fetal_cystic_hygroma|Hereditary_cancer-predisposing_syndrome|Inborn_genetic_diseases|LZTR1-related_condition|LZTR1-related_disorders|Noonan_syndrome|Noonan_syndrome_10|Noonan_syndrome_2|Noonan_syndrome_and_Noonan-related_syndrome|RASopathy|Schwannomatosis|Schwannomatosis_2|See_cases|Short_stature,.,.,.,.,.,.,.,.,.;B_gain_source=.,DDD:56146|DDD:56173|DDD:56174|dbVar|dgv543n27|dgv99e203|gnomAD-SV_v2.1_DUP_22_50647,DDD:56146|DDD:56173|DDD:56174|dbVar|dgv543n27|dgv99e203|gnomAD-SV_v2.1_DUP_22_50647,1000g|DDD:56146|DDD:56173|DDD:56174|dbVar|dgv543n27|dgv99e203|esv3647250|gnomAD-SV_v2.1_DUP_22_50652,dgv543n27,dbVar|dgv543n27,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.,.,.,DDD:56225|DDD:56226|dbVar,DDD:56225|DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|dbVar,DDD:56226|dbVar,DDD:56226|dbVar,DDD:56226|dbVar,DDD:56226|DDD:56255|dbVar,dbVar,dbVar,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar|esv2760719,dbVar|esv2760719,dbVar|esv2760719,dbVar|esv2760719;B_gain_coord=.,22:18655861-19006984|22:18667571-18994853|22:18876429-19006125|22:18877788-19033532|22:18882313-19012377|chr22:18884850-18926400|22:18884850-18926400,22:18655861-19006984|22:18667571-18994853|22:18876429-19006125|22:18877788-19033532|22:18882313-19012377|chr22:18884850-18926400|22:18884850-18926400,22:18655861-19006984|22:18667571-18994853|22:18876429-19006125|22:18877788-19033532|22:18882313-19012377|chr22:18912157-18998999|22:18912158-18998999|22:18912158-18998999|chr22:18924000-18940000|22:18924000-18940000,22:18877788-19033532,22:18877788-19033532|chr22:18998500-19027500|chr22:19015177-19088691,.,chr22:19015177-19088691|chr22:19030334-19103057|chr22:19031999-19054000,chr22:19072999-19342000,chr22:19072999-19342000|chr22:19096500-19120500,chr22:19072999-19342000,chr22:19072999-19342000,chr22:19072999-19342000,chr22:19072999-19342000,.,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19531786-19559055|chr22:19531786-19666087,.,.,chr22:19707371-19866503|chr22:19710000-19716000,chr22:19707371-19866503,chr22:19707371-19866503,chr22:19707371-19866503|chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645|chr22:20015350-20023000,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19973106-20124645,chr22:19973106-20124645|chr22:20109000-20115000|chr22:20112900-20120550,.,.,.,.,.,.,.,chr22:20310677-20370753|chr22:20310677-20503817|22:20313251-20369884|22:20322450-20718598,chr22:20310677-20370753|chr22:20310677-20503817|22:20313251-20369884|22:20322450-20718598|22:20330330-20450295|22:20343574-20380608,chr22:20310677-20503817|22:20322450-20718598|22:20330330-20450295|22:20343574-20380608|chr22:20370753-20489646|chr22:20370753-20503717,chr22:20310677-20503817|22:20322450-20718598|22:20330330-20450295|chr22:20370753-20489646|chr22:20370753-20503717,chr22:20310677-20503817|22:20322450-20718598|chr22:20370753-20489646|chr22:20370753-20503717,chr22:20310677-20503817|22:20322450-20718598|chr22:20370753-20489646|chr22:20370753-20503717|chr22:20465500-20509200,22:20322450-20718598|chr22:20610555-20718305,22:20322450-20718598|chr22:20610555-20718305|22:20659548-20717455,chr22:20722999-20763000|chr22:20746552-20846353|chr22:20747116-20782223,chr22:20746552-20846353|chr22:20763251-20802665,.,.,chr22:20989999-21481000|chr22:21036802-21046081|chr22:21036802-21053355|chr22:21037000-21051000,chr22:20989999-21481000|chr22:21051000-21059000,chr22:20989999-21481000,chr22:20989999-21481000|chr22:21078735-21159481,chr22:20989999-21481000,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350|22:21383283-21845355|chr22:21384000-21389000,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350|22:21383283-21845355,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350|22:21383283-21845355,chr22:20989999-21481000|22:21383283-21845355|chr22:21453999-21469000|chr22:21455959-21464881;B_gain_AFmax=.,0.0355,0.0355,0.0355,0.01,0.01,.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,.,0.01,0.01,0.01,0.01,0.01,0.01,.,.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,.,.,.,.,.,.,.,0.0509,0.0509,0.0509,0.0509,0.0509,0.0509,0.0509,0.0509,0.01,0.01,.,.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01;B_loss_source=.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,DDD:56225|DDD:56226|dbVar,DDD:56225|DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|dbVar,DDD:56226|HI40:ISCA-46728|dbVar|dgv817e199,DDD:56226|HI40:ISCA-46728|dbVar|dgv817e199,DDD:56226|dbVar,DDD:56226|DDD:56255|dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar;B_loss_coord=.,chr22:18884924-19013000|chr22:18884925-18927000,chr22:18884924-19013000|chr22:18884925-18927000,chr22:18884924-19013000|chr22:18912157-18998999,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000|chr22:19161075-19192940,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000|chr22:19528613-19558447|chr22:19531786-19559055,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000|22:20313251-20369884|22:20322450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164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407;B_inv_AFmax=0.1686,0.1686,0.1686,0.1686,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686;po_B_gain_someG_source=22:18667571-18994853_DDD:56146|22:18877788-19033532_dgv543n27|chr22:18884850-18926400_dbVar|chr22:18897380-18897885_dbVar|chr22:18905003-18905655_dbVar|chr22:18908214-18916245_dbVar|22:18912158-18998999_1000g|chr22:18915430-18916245_dbVar|chr22:18920000-18927000_dbVar|chr22:18924000-18940000_dbVar|chr22:18928500-18933600_dbVar|chr22:18936140-18938323_dbVar|chr22:18958405-18962239_dbVar|chr22:18976999-19012000_dbVar|chr22:18986988-18991101_dbVar|chr22:18995665-18996607_dbVar|chr22:19006777-19007455_dbVar|chr22:19015177-19088691_dbVar|chr22:19030334-19103057_dbVar|chr22:19050376-19063398_dbVar...;po_B_gain_someG_coord=22:18655861-19006984_dgv99e203|22:18876429-19006125_DDD:56173|22:18882313-19012377_DDD:56174|22:18884850-18926400_gnomAD-SV_v2.1_DUP_22_50647|chr22:18897885-18898551_dbVar|chr22:18908116-18908214_dbVar|chr22:18912157-18998999_dbVar|22:18912158-18998999_esv3647250|chr22:18917245-18921869_dbVar|chr22:18922181-18922289_dbVar|22:18924000-18940000_gnomAD-SV_v2.1_DUP_22_50652|chr22:18932850-18939000_dbVar|chr22:18946999-18963000_dbVar|chr22:18959589-18974015_dbVar|chr22:18979229-18981697_dbVar|chr22:18991101-19003643_dbVar|chr22:18998500-19027500_dbVar|chr22:19006877-19007455_dbVar|chr22:19023959-19024069_dbVar|chr22:19031999-19054000_dbVar...;po_B_loss_someG_source=chr22:18884925-18927000_dbVar|chr22:18912157-18998999_dbVar|chr22:18920358-18923595_dbVar|chr22:18934402-18934486_dbVar|chr22:18938445-18969406_dbVar|chr22:18961454-18962214_dbVar|chr22:18977575-18977640_dbVar|chr22:18977576-18977640_dbVar|chr22:18979860-18979920_dbVar|chr22:18984228-18985696_dbVar|chr22:18994879-18998062_dbVar|chr22:18997267-19009786_dbVar|chr22:19008418-19009937_dbVar|chr22:19041070-19041296_dbVar|chr22:19050181-19050386_dbVar|chr22:19063483-19063613_dbVar|22:19063767-19063900_gnomAD-SV_v2.1_DEL_22_181349|chr22:19087245-19091323_dbVar|chr22:19091546-19099675_dbVar|chr22:19099906-19100607_dbVar...;po_B_loss_someG_coord=chr22:18884924-19013000_dbVar|chr22:18902898-18902992_dbVar|chr22:18912910-18913458_dbVar|chr22:18929400-18935100_dbVar|chr22:18934999-21466000_dbVar|chr22:18943458-18943555_dbVar|chr22:18961457-18962214_dbVar|22:18977576-18977640_1000g|22:18977576-18977640_gnomAD-SV_v2.1_DEL_22_181334|chr22:18980769-18984165_dbVar|chr22:18990004-18990064_dbVar|chr22:18997195-19009720_dbVar|chr22:19006733-19006786_dbVar|chr22:19008684-19010259_dbVar|chr22:19050028-19050086_dbVar|chr22:19054635-19055096_dbVar|chr22:19063767-19063900_dbVar|chr22:19085539-19085825_dbVar|chr22:19091504-19102801_dbVar|22:19098616-19100995_dgv1286e212...;Cosmic_ID=325921|868289|16521|344527|344990|336054|337864|1189150|2526221|921730|347979|681737|674280|676645|64889|73372|74042|14568|552226|393066|393067|606697|1010990|1011193|1011198|1011201|1011203|988609|1919439|2386524|1215466|3038163|334661|1009921|347980|540341|366288|357345|101360|153623|1311717|1782887|2534354|2206583|844141|1573312|666970|81317|557557|612401|227094|...,.,64889|73372|74042|14568|540341|81317|227094,.,.,.,768143|122920|768144|768145|742665|205629|742666|768146|724948|2058016|2381098,.,.,.,.,.,.,724952|22726|768149|546696,724953|521179|520035,.,.,724954|724955|724956|768151,768153|724957,.,.,.,.,.,.,724966|344529|950816|951023|951040|951043,.,979497|98439|98826|98831|485936|367919|1066921|778842|1068069|1064219|724968|724969,1059497|1060872|1060985|1067989|1061244|1070187|1070348|1074180|1064577|1067754|1069000|1071230|1071315|1065708|1070037|1070098|1074085|1070821|290501|257442,.,871048|393084|393085|35010|35386|44709|498907|263488|847960|20575,545395|290503|301777|286870|290504,.,768159,.,.,.,.,724972,.,768162,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,342985|1011827|329413|334666,724981|568169|724982|724983|724984|724985|724986|724987,.,.,.,513199|263494|724990|724991|768172|768173|1061246|1068660|1060873|1070188|1065051|1068661|1073865|1068662|1069644|1066059|724992|724993|367925|2069010|724994|724995|75440,724992|724993,.,687520|325941,.,.,687522,.,.,.,724998,.,.,.,725000,.;Cosmic_mut_typ=loss|gain,.,loss,.,.,.,gain|loss,.,.,.,.,.,.,loss,loss,.,.,gain|loss,loss,.,.,.,.,.,.,loss|gain,.,gain|loss,loss|gain,.,gain|loss,loss|gain,.,loss,.,.,.,.,loss,.,loss,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,gain|loss,gain|loss,.,.,.,loss|gain,loss,.,gain,.,.,gain,.,.,.,loss,.,.,.,loss,.;GC_content_left=0.445;GC_content_right=0.32;Repeat_coord_left=22:18894850-18894969;Repeat_type_left=L1ME2z;Repeat_coord_right=22:21464126-21464591;Repeat_type_right=L1MA7;SegDup_left=22:18889511-18912230;HI=1,.,30,.,.,.,.,.,.,.,.,.,30,.,0,.,.,.,.,.,.,.,.,30,2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,30,.,.,.,.,.,.,30,1,.,.,.,.,.,.,.,.,.,.,.,.;TS=.,.,0,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.;DDD_HI_percent=97.89,61.1,45.38,.,.,.,39.12,.,.,33.13,65.74,.,46.07,72.86,19.48,54.99,70.45,.,8.4,50.93,.,.,.,78.01,4.92,48.57,.,72.21,40.8,.,54.56,51.91,.,5.07,.,.,68.23,.,8.76,.,37.82,.,.,.,35.77,.,79.33,97.89,94.16,.,.,90.21,.,.,.,86.28,70.17,41.2,24.41,.,.,35.17,68.88,61.36,4.35,.,38.59,32.82,50.87,.,.,76.26,74.02,.,.,.,.;ExAC_delZ=-0.807902299547855,.,.,.,.,.,.,.,.,-2.62354415217069,.,.,-2.62354415217069,-2.62354415217069,-2.51547904504873,-2.62354415217069,-2.53806827104914,.,-2.57292784443109,.,.,.,.,.,-2.62354415217069,-2.62354415217069,.,-2.62354415217069,-2.62354415217069,.,-2.62354415217069,-2.62354415217069,.,-2.46581011772843,.,.,-2.62354415217069,.,-2.62354415217069,.,-2.62354415217069,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1.30437956536809,-1.42333559636086,-1.60479766897668,.,.,.,.,-1.06265755233802,-1.39880243235913,-0.928255048107525,.,-1.14442881641699,-1.25119505668143,-1.44618961523547,.,.,-1.8606303493434,-0.807902299547855,.,.,.,.;ExAC_dupZ=-1.20830830104818,.,.,.,.,.,.,.,.,-2.53125239294469,.,.,-2.53125239294469,-2.53125239294469,-2.53125239294469,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,.,.,.,.,.,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,.,.,-2.53125239294469,.,-2.53125239294469,.,-2.53125239294469,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1.89912490049618,-1.93669033911618,-1.94085802577819,.,.,.,.,-1.49456297636655,-1.53414994058354,-1.20830830104818,.,-1.26664892202732,-1.28020537251329,-1.52989215323949,.,.,-1.51336493990188,-1.26588610868392,.,.,.,.;ExAC_cnvZ=-0.791505674827999,.,.,.,.,.,.,.,.,-2.47162789907313,.,.,-2.47162789907313,-2.47162789907313,-2.47162789907313,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,.,.,.,.,.,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,.,.,-2.47162789907313,.,-2.47162789907313,.,-2.47162789907313,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1.51976012533128,-1.61173791689534,-1.599983320827,.,.,.,.,-1.03231231326932,-1.19910660480315,-0.791505674827999,.,-0.922844550293754,-0.946080819110286,-1.19895133869269,.,.,-1.2805127161158,-1.04316708587741,.,.,.,.;ExAC_synZ=2.94244265911253,-0.678746019468492,0.360135634788785,.,.,.,-0.375038933750903,.,.,-0.184731887964386,1.18735715980007,.,0.459211010381399,-0.597972033048653,-0.543665561522748,0.0822917398873284,0.128056348383697,.,0.554183575869215,2.94244265911253,.,.,.,-0.002241469611443,2.36782594176173,-0.373621593221624,.,0.348188483468328,0.465852147917107,.,0.425870777992255,1.46130508236304,.,0.690563071344625,.,.,-1.98609532754524,.,-1.04492215962902,.,-0.408428770523539,.,.,.,-0.800223805913347,.,0.698499439551705,.,.,.,.,.,.,.,.,2.28676628831896,.,-0.0046056816669864,0.672972182845271,.,.,1.20573288011437,-0.289055396385536,1.58078637399342,0.477351976371369,.,0.687283106386744,0.246895000414255,-1.50983365445593,.,.,-0.990180484365383,-0.387275128092876,.,.,.,.;ExAC_misZ=5.29477062168781,-0.22775445384527,0.772811927860626,.,.,.,0.817637812863819,.,.,1.02819617031079,0.932740471460801,.,1.99698466418685,-1.19469008098196,3.98018572942351,-0.450618700229176,0.836381939603491,.,1.2901097836858,3.34022892264706,.,.,.,0.855158778511627,3.38001100960461,0.590344002361273,.,0.327140414338646,0.557839148920189,.,-0.701931719398633,0.279301120222081,.,4.03153091509844,.,.,-0.363927890852326,.,2.06932219421127,.,2.39258092860216,.,.,.,1.18081437151802,.,0.174075190759776,.,.,.,.,.,.,.,.,2.39892044394279,.,2.85964800561254,2.65389095774821,.,.,5.29477062168781,-0.349034099945665,-0.841707455415557,3.00980268645085,.,1.33036583543754,0.909128978651125,1.16392737773964,.,.,-0.63060581685217,-1.12481109733158,.,.,.,.;GenCC_disease=.,.,hyperprolinemia_type_1,.,.,.,schizophrenia,.,.,.,.,.,D,L-2-hydroxyglutaric_aciduria|mitochondrial_disease|myasthenic_syndrome,_congenital,_23,_presynaptic|presynaptic_congenital_myasthenic_syndrome,congenital_insensitivity_to_pain_with_severe_intellectual_disability|multiple_congenital_anomalies/dysmorphic_syndrome,.,.,.,.,Meier-Gorlin_syndrome|Meier-Gorlin_syndrome_7,.,.,.,.,Bernard-Soulier_syndrome|autosomal_dominant_macrothrombocytopenia,22q11.2_deletion_syndrome|DiGeorge_syndrome|conotruncal_heart_malformations|velocardiofacial_syndrome,.,.,dilated_cardiomyopathy|familial_glucocorticoid_deficiency|familial_isolated_dilated_cardiomyopathy|glucocorticoid_deficiency_5,paroxysmal_dyskinesia,.,.,metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration|recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,van_den_Ende-Gupta_syndrome,.,.,.,.,polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,heparin_cofactor_2_deficiency,CEDNIK_syndrome,congenital_heart_disease,.,.,Noonan_syndrome|Noonan_syndrome_10|Noonan_syndrome_2|schwannomatosis_2,.,.,.,.,.,.,.,.,.;GenCC_moi=.,.,AR,.,.,.,AD,.,.,.,.,.,AD|AR,AD|AR,.,.,.,.,AD|AR,.,.,.,.,AD|AR,AD,.,.,AD|AR,AD,.,.,AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,AR,AD,AR,.,.,.,AD|AR,.,.,.,.,.,.,.,.,.;GenCC_classification=.,.,Definitive|Strong|Supportive,.,.,.,Limited,.,.,.,.,.,Definitive|Limited|Strong|Supportive,Limited|Supportive,.,.,.,.,Definitive|Strong|Supportive,.,.,.,.,Definitive|Strong|Supportive,Definitive|Strong|Supportive,.,.,Limited|Supportive,Moderate,.,.,Moderate|Strong,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Definitive|Limited|Moderate|Strong|Supportive,.,.,.,.,Definitive|Moderate|Strong,Definitive|Limited|Strong,Strong|Supportive,No_Known_Disease_Relationship,.,.,Definitive|Moderate|Strong|Supportive,.,.,.,.,.,.,.,.,.;GenCC_pmid=.,.,10192398|12217952|12525555|15662599|19736351|20524212|20524212[PMID]_23462603[PMID]|23462603|26978485|28202261|28851938|5031477,.,.,.,.,.,.,.,.,.,23561848|23561848[PMID]_23393310[PMID]|26273529|26870663|29238895|31527857|31808147|NULL,26068709[PMID],.,.,.,.,11416137|121376|149250|27374770|27374770[PMID]|282832|30986546,.,.,.,.,10887115|12447957|15213102|18825380|19484238|22886561[PMID]|23995613|28064200[PMID],11239417|11242049|11242110|11748311|14585638|14585638[PMID]|18636631|192430|20054531|20937753|24637876|24998776|25860641|29500247,.,.,21247928[PMID]|24601690[PMID]|30237576|32476818,.,.,.,26805781|26805782,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,20887961|20887961[PMID]_22140376[PMID]|21108395|22140376|23808541|24478002|3808541,.,.,.,.,25855803|29738522|30614210|34415310|34415322,15337701|2647747|277130|8562924,15968592|15968592[PMID]_21073448[PMID]|21073448|23231787|25473036|26747696,.,.,.,15955931|16534111|23401320|24362817|25335493|25480913|25795793|25795793[PMID]|26446362|274799|278971|287232|29469822|30368668|303983|30442762|30442766|30481304|30664951|30859559|31533111|31825158,.,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,8214,5625,.,26220,117134596,9993,25786,8220,23617,2928,100652736,6576,8218,7290,64976,128977,7353,8318,7122,150185,5413,.,2812,6899,54584,79680,10587,1312,100616414,421,128989,406961,54487,100500860,100302197,27037,102465490,5902,109617010,29801,388849,284865,150197,65078,100302118,85359,653203,728226,728229,728233,85376,117134597,729461,101927859,7625,91179,84861,51586,266697,84222,5297,3053,9342,1399,101928891,150209,8216,80764,439931,113691,9127,6545,693234,440799,400891,400892;OMIM_ID=606810|190315|603465|138720|602054|606448|116790|616830|605566|613619|600286|142360|604202|600574,.,606810,.,.,.,.,.,.,.,.,.,190315,.,.,.,.,.,603465,.,.,.,.,138720,602054,.,.,606448,116790,.,.,616830,.,.,.,.,.,.,.,.,.,.,.,.,605566,.,.,.,.,.,.,.,.,.,.,.,613619,.,.,.,.,600286,142360,604202,.,.,.,600574,.,.,.,.,.,.,.,.,.;OMIM_phenotype=.,.,Hyperprolinemia,_type_I,_239500_(3)_AR|(Schizophrenia,_susceptibility_to,_4),_600850_(3)_AD,.,.,.,.,.,.,.,.,.,Combined_D-2-_and_L-2-hydroxyglutaric_aciduria,_615182_(3)_AR|Myasthenic_syndrome,_congenital,_23,_presynaptic,_618197_(3)_AR,.,.,.,.,.,Meier-Gorlin_syndrome_7,_617063_(3)_AR,.,.,.,.,Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR,Conotruncal_anomaly_face_syndrome,_217095_(3)|DiGeorge_syndrome,_188400_(3)_AD|Tetralogy_of_Fallot,_187500_(3)_AD|Velocardiofacial_syndrome,_192430_(3)_AD,.,.,?Glucocorticoid_deficiency_5,_617825_(3)_AR,(Panic_disorder,_susceptibility_to),_167870_(3)_?AD|(Schizophrenia,_susceptibility_to),_181500_(3)_AD,.,.,Metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration,_616878_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,(Schizophrenia,_susceptibility_to),_181500_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,Van_den_Ende-Gupta_syndrome,_600920_(3)_AR,.,.,.,.,Gastrointestinal_defects_and_immunodeficiency_syndrome_2,_619708_(3)_AR|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,_616531_(3)_AR|Spastic_paraplegia_84,_AR,_619621_(3)_AR,Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD,Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome,_609528_(3)_AR,.,.,.,Noonan_syndrome_10,_616564_(3)_AD|Noonan_syndrome_2,_605275_(3)_AR|(Schwannomatosis-2,_susceptibility_to),_615670_(3)_AD,.,.,.,.,.,.,.,.,.;OMIM_inheritance=.,.,AD|AR,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,.,AR,.,.,.,.,AR,AD,.,.,AR,?AD|AD,.,.,AR,.,.,.,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,AR,AD,AR,.,.,.,AD|AR,.,.,.,.,.,.,.,.,.;OMIM_morbid=yes,.,yes,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,yes,yes,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,yes,yes,yes,.,.,.,yes,.,.,.,.,.,.,.,.,.;OMIM_morbid_candidate=yes,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.;LOEUF_bin=0,9,6,.,.,.,4,.,.,6,9,.,3,5,0,4,9,.,3,1,.,.,.,7,2,5,.,5,8,.,4,4,.,0,.,.,5,.,2,.,1,.,.,.,1,.,7,7,.,.,.,7,.,.,.,4,0,2,0,.,.,2,8,4,3,.,5,9,4,.,.,6,6,.,.,.,.;GnomAD_pLI=1,9.8176e-12,5.3577e-12,.,.,.,5.1573e-06,.,.,0.003861,0.0044347,.,0.058829,2.5101e-37,1,0.052924,1.9976e-05,.,4.6237e-05,0.89512,.,.,.,0.51249,0.83661,4.7419e-05,.,3.4688e-11,1.1377e-06,.,5.0422e-11,0.00014769,.,0.99973,.,.,1.0841e-08,.,0.82235,.,0.85288,.,.,.,0.95882,.,5.0636e-05,0.48065,.,.,.,9.0005e-09,.,.,.,1.5586e-06,0.9998,0.42419,0.99974,.,.,3.1234e-12,2.5137e-10,0.013567,0.44604,.,1.9474e-14,1.0210999999999999e-92,0.013291,.,.,4.468e-09,2.8317e-07,.,.,.,.;ExAC_pLI=1,7.621e-07,4.7536e-06,.,.,.,0.0010959,.,.,0.0041565,0.037186,.,0.63354,1.2408e-26,1,0.020082,3.69e-07,.,0.069104,0.74052,.,.,.,0.10112,0.9834,0.0012635,.,1.0692e-08,0.00084666,.,8.2184e-07,4.2224e-06,.,0.9999,.,.,1.3059e-05,.,0.33622,.,0.98899,.,.,.,0.52644,.,0.12857,.,.,.,.,.,.,.,.,0.00035588,.,0.70261,0.96081,.,.,0.00080407,2.7955e-05,0.15166,0.16345,.,1.9583e-10,3.3832e-52,0.029328,.,.,1.8785e-07,0.00010047,.,.,.,.;AnnotSV_ranking_score=1.9;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3C_(76_genes,_+0.90)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=21464119;SVLEN=-2569283 GT 1/. +X 53250654 . G . PASS AnnotSV_ID=X_53250654_53856257_DUP_1;SV_start=53250654;Biologist_annotation=HUWE1;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split;CytoBand=p11.22;Gene_name=KDM5C|IQSEC2|SMC1A|MIR6857|RIBC1|HSD17B10|HUWE1|MIR98|MIRLET7F2,KDM5C,IQSEC2,SMC1A,MIR6857,RIBC1,HSD17B10,HUWE1,MIR98,MIRLET7F2;Closest_left=MIR6894;Closest_right=PHF8;Gene_count=9;Tx=.,NM_001353979,NM_001111125,NM_006306,NR_106916,NM_001031745,NM_004493,NM_031407,NR_029513,NR_029484;Tx_version=.,2,3,4,1,5,3,7,1,1;Tx_start=.,53205458,53262057,53401069,53432604,53449821,53458208,53559056,53583183,53584152;Tx_end=.,53254389,53350548,53449603,53432697,53458063,53461317,53713664,53583302,53584235;Overlapped_tx_length=.,3736,88491,48534,93,8242,3109,154608,119,83;Overlapped_CDS_length=.,150,4467,3702,0,1140,786,13125,0,0;Overlapped_CDS_percent=.,3,100,100,0,100,100,100,0,0;Frameshift=.,no,no,no,no,no,no,no,no,no;Exon_count=.,26,15,25,1,8,6,84,1,1;Location=.,txStart-intron1,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,5'UTR-CDS,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR;Dist_nearest_SS=.,555,.,.,.,.,.,.,.,.;Nearest_SS_type=.,3',.,.,.,.,.,.,.,.;Intersect_start=.,53250653,53262057,53401069,53432604,53449821,53458208,53559056,53583183,53584152;Intersect_end=.,53254389,53350548,53449603,53432697,53458063,53461317,53713664,53583302,53584235;RE_gene=ACADM_(morbid/RE=mTL_miRNA)|ACTA1_(morbid/RE=mTL_miRNA)|ACVR2B_(morbid/RE=mTL_miRNA)|ADA_(morbid/RE=mTL_miRNA)|ADGRE2_(morbid/RE=mTL_miRNA)|ADGRG1_(morbid/RE=mTL_miRNA)|ADH5_(morbid/RE=mTL_miRNA)|AGO1_(morbid/RE=mTL_miRNA)|AGPS_(morbid/RE=mTL_miRNA)|AK2_(morbid/RE=mTL_miRNA)|ALAS2_(morbid/RE=ABC_enhancer)|ALDH1A3_(morbid/RE=mTL_miRNA)|ALDH7A1_(morbid/RE=mTL_miRNA)|ALG3_(morbid/RE=mTL_miRNA)|ALG8_(morbid/RE=mTL_miRNA)|AMD1_(morbid/RE=mTL_miRNA)|AMMECR1_(morbid/RE=mTL_miRNA)|ANKRD11_(HI=3/morbid/RE=mTL_miRNA)|ANTXR2_(morbid/RE=mTL_miRNA)|AP1S1_(morbid/RE=mTL_miRNA)|ARCN1_(HI=3/morbid/RE=mTL_miRNA)|ARHGEF18_(morbid/RE=mTL_miRNA)|ARID1A_(HI=3/morbid/RE=mTL_miRNA)|ARID1B_(HI=3/morbid/RE=mTL_miRNA)|ATL1_(morbid/RE=mTL_miRNA)|ATP13A3_(morbid/RE=mTL_miRNA)|ATP2A2_(morbid/RE=mTL_miRNA)|ATP7B_(morbid/RE=mTL_miRNA)|ATR_(morbid/RE=mTL_miRNA)|ATXN2_(morbid/RE=mTL_miRNA)|B4GAT1_(morbid/RE=mTL_miRNA)|BACH1_(morbid/RE=mTL_miRNA)|BCL11A_(HI=3/morbid/RE=mTL_miRNA)|BCL2_(morbid/RE=mTL_miRNA)|BCOR_(HI=3/morbid/RE=mTL_miRNA)|BNC2_(morbid/RE=mTL_miRNA)|C12orf4_(morbid/RE=mTL_miRNA)|C3_(morbid/RE=mTL_miRNA)|CACNA1C_(morbid/RE=mTL_miRNA)|CACNB2_(morbid/RE=mTL_miRNA)|CALM1_(morbid/RE=mTL_miRNA)|CANT1_(morbid/RE=mTL_miRNA)|CAPN15_(morbid/RE=mTL_miRNA)|CBL_(morbid/RE=mTL_miRNA)|CCND2_(morbid/RE=mTL_miRNA)|CCNF_(morbid/RE=mTL_miRNA)|CD59_(morbid/RE=mTL_miRNA)|CDKN1B_(HI=3/morbid/RE=mTL_miRNA)|CEP120_(morbid/RE=mTL_miRNA)|CEP135_(morbid/RE=mTL_miRNA)...;P_gain_phen=Xp11.22_region_(includes_HUWE1);P_gain_source=TS3:ISCA-46299|dbVar:nssv15147941|dbVar:nssv15147942|dbVar:nssv15161312|nssv15161529|dbVar:nssv15161768,.,dbVar:nssv15147941|dbVar:nssv15147942,.,.,.,.,dbVar:nssv15161768,.,.;P_gain_coord=X:53276031-53298472|X:53283514-53325284|X:53363457-53793054|X:53559549-53622547|X:53559733-53790650,.,X:53276031-53298472|X:53283514-53325284,.,.,.,.,X:53559549-53622547,.,.;P_loss_phen=Cornelia_de_Lange_syndrome_2,_300590_(3)_XLD|Developmental_and_epileptic_encephalopathy_85,_with_or_without_midline_brain_defects,_301044_(3)_XLD|HSD10_mitochondrial_disease,_300438_(3)_XLD|Intellectual_developmental_disorder,_XL_1,_309530_(3)_XLD|Intellectual_developmental_disorder,_XL_syndromic,_Turner_type,_309590_(3)_XL|Intellectual_disability,_X-linked_1,.,Intellectual_developmental_disorder,_XL_1,_309530_(3)_XLD|Intellectual_disability,_X-linked_1,.,.,.,HSD10_mitochondrial_disease,_300438_(3)_XLD,Intellectual_developmental_disorder,_XL_syndromic,_Turner_type,_309590_(3)_XL,.,.;P_loss_source=CLN:1065452|HI3:IQSEC2|HI3:SMC1A|dbVar:nssv15769470|dbVar:nssv16212358|dbVar:nssv16215156|dbVar:nssv17171530|dbVar:nssv17171900|dbVar:nssv17172048|dbVar:nssv17172462|dbVar:nssv17970926|dbVar:nssv17971164|dbVar:nssv18788536|dbVar:nssv18791522|morbid:HSD17B10|morbid:HUWE1|morbid:IQSEC2|morbid:SMC1A,dbVar:nssv16215156,CLN:1065452|HI3:IQSEC2|dbVar:nssv17171900|dbVar:nssv17172048|dbVar:nssv17172462|dbVar:nssv17970926|dbVar:nssv18791522|morbid:IQSEC2,dbVar:nssv15769470|dbVar:nssv16212358|dbVar:nssv17171530|dbVar:nssv17971164|dbVar:nssv18788536,.,.,morbid:HSD17B10,morbid:HUWE1,.,.;P_loss_coord=X:53253923-53254071|X:53262059-53350522|X:53263402-53280376|X:53264077-53264258|X:53264078-53264257|X:53270947-53271111|X:53279442-53280376|X:53295510-53310766|X:53348888-53349736|X:53401070-53449677|X:53401071-53449677|X:53430479-53432101|X:53430479-53442138|X:53435974-53442138|X:53448826-53449569|X:53449432-53449549|X:53458209-53461317|X:53559057-53713664,X:53253923-53254071,X:53262059-53350522|X:53263402-53280376|X:53264077-53264258|X:53264078-53264257|X:53270947-53271111|X:53279442-53280376|X:53295510-53310766|X:53348888-53349736,X:53430479-53432101|X:53430479-53442138|X:53435974-53442138|X:53448826-53449569|X:53449432-53449549,.,.,X:53458209-53461317,X:53559057-53713664,.,.;P_snvindel_nb=233,5,123,90,.,.,4,11,.,.;P_snvindel_phen=Abnormal_heart_valve_morphology|Congenital_muscular_hypertrophy-cerebral_syndrome|Cornelia_de_Lange_syndrome_1|Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects|Epileptic_encephalopathy|Global_developmental_delay|HSD10_mitochondrial_disease|Hirsutism|Hypertonia|Inborn_genetic_diseases|Intellectual_disability|Intellectual_disability,_X-linked_1|Intellectual_disability,_X-linked_syndromic,_Turner_type|Microcephaly|Neurodevelopmental_delay|Paraplegia-intellectual_disability-hyperkeratosis_syndrome|Progressive_sensorineural_hearing_impairment|SMC1A-related_cohesinopathy|See_cases|Severe_intellectual_deficiency|Syndromic_X-linked_intellectual_disability_Claes-Jensen_type|Undetermined_early-onset_epileptic_encephalopathy,Inborn_genetic_diseases|Syndromic_X-linked_intellectual_disability_Claes-Jensen_type,Inborn_genetic_diseases|Intellectual_disability|Intellectual_disability,_X-linked_1|Neurodevelopmental_delay|Paraplegia-intellectual_disability-hyperkeratosis_syndrome|See_cases|Severe_intellectual_deficiency|Undetermined_early-onset_epileptic_encephalopathy,Abnormal_heart_valve_morphology|Congenital_muscular_hypertrophy-cerebral_syndrome|Cornelia_de_Lange_syndrome_1|Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects|Epileptic_encephalopathy|Global_developmental_delay|Hirsutism|Hypertonia|Inborn_genetic_diseases|Intellectual_disability|Microcephaly|Progressive_sensorineural_hearing_impairment|SMC1A-related_cohesinopathy|See_cases,.,.,HSD10_mitochondrial_disease|Inborn_genetic_diseases|Neurodevelopmental_delay,Global_developmental_delay|Inborn_genetic_diseases|Intellectual_disability|Intellectual_disability,_X-linked_syndromic,_Turner_type|Neurodevelopmental_delay,.,.;B_gain_source=.,.,.,.,.,.,.,.,dbVar,dbVar;B_gain_coord=.,.,.,.,.,.,.,.,chrX:53552999-53623500,chrX:53552999-53623500;B_gain_AFmax=.,.,.,.,.,.,.,.,0.01,0.01;B_inv_source=IMH;B_inv_coord=X:46769178-84009828;B_inv_AFmax=0.128;po_B_gain_someG_source=chrX:53351112-53351177_dbVar|chrX:53471700-53477100_dbVar|chrX:53592722-53593564_dbVar|chrX:53727000-53788500_dbVar|chrX:53787836-53829639_dbVar|chrX:53803200-53918400_dbVar|;po_B_gain_someG_coord=chrX:53332800-53414100_dbVar|chrX:53470041-53488385_dbVar|chrX:53552999-53623500_dbVar|chrX:53666546-53667044_dbVar|chrX:53775999-53852000_dbVar|chrX:53800000-53808000_dbVar|chrX:53820721-53862221_dbVar;po_B_loss_someG_source=chrX:53318184-53318333_dbVar|chrX:53319071-53320350_dbVar|chrX:53414007-53419436_dbVar|chrX:53475340-53498420_dbVar|X:53478094-53491686_1000g|X:53478191-53491588_IMH|X:53478192-53491585_gnomAD-SV_v2.1_DEL_X_186301|chrX:53481193-53482847_dbVar|chrX:53485000-53555000_dbVar|X:53496417-53499888_1000g|chrX:53504537-53504627_dbVar|chrX:53513549-53520809_dbVar|chrX:53520678-53520750_dbVar|chrX:53561861-53562148_dbVar|chrX:53684764-53684885_dbVar|X:53772345-53778301_1000g|X:53772358-53778316_IMH|chrX:53776500-53781600_dbVar|chrX:53781934-53808203_dbVar|X:53792164-53792218_1000g...;po_B_loss_someG_coord=chrX:53256067-53256435_dbVar|chrX:53318309-53320696_dbVar|X:53319072-53320350_1000g|chrX:53437409-53437467_dbVar|chrX:53478093-53491686_dbVar|X:53478160-53491616_DDD:57601|chrX:53478192-53491585_dbVar|chrX:53478817-53479165_dbVar|X:53481194-53482847_1000g|chrX:53496416-53499888_dbVar|chrX:53496418-53499890_dbVar|chrX:53513441-53520776_dbVar|chrX:53513576-53513640_dbVar|chrX:53557344-53558918_dbVar|chrX:53680158-53680957_dbVar|chrX:53772344-53778301_dbVar|X:53772358-53778316_DDD:57606|chrX:53774645-53775785_dbVar|X:53776864-53777371_nsv515204|chrX:53787125-53795624_dbVar...;GC_content_left=0.42;GC_content_right=0.295;Repeat_coord_left=X:53250479-53250649;Repeat_type_left=MIRc;Repeat_coord_right=X:53855851-53856180|X:53856303-53856465;Repeat_type_right=L1MA7|L1MA7;HI=3,3,3,3,.,.,0,0,.,.;TS=.,0,0,0,.,.,0,0,.,.;DDD_HI_percent=75.6,11.71,26.16,14.23,.,75.6,21.63,10.58,.,.;ExAC_synZ=0.807946261414963,-1.20041549946446,-0.257046228208263,-0.112682658348456,.,0.80408198011521,0.807946261414963,-1.65771922174252,.,.;ExAC_misZ=9.03470791370173,5.44441583895939,4.55717824142058,6.67845368195785,.,0.293719819544616,2.17074250392365,9.03470791370173,.,.;GenCC_disease=.,X-linked_syndromic_intellectual_disability|syndromic_X-linked_intellectual_disability_Claes-Jensen_type,X-linked_complex_neurodevelopmental_disorder|intellectual_disability,_X-linked_1|non-syndromic_X-linked_intellectual_disability|severe_intellectual_disability-progressive_postnatal_microcephaly-_midline_stereotypic_hand_movements_syndrome,Cornelia_de_Lange_syndrome|Cornelia_de_Lange_syndrome_2|X-linked_complex_neurodevelopmental_disorder|atypical_Rett_syndrome|developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects,.,.,HSD10_disease,_infantile_type|HSD10_disease,_neonatal_type|HSD10_mitochondrial_disease|syndromic_X-linked_intellectual_disability_type_10,intellectual_disability,_X-linked_syndromic,_Turner_type|non-syndromic_X-linked_intellectual_disability|syndromic_intellectual_disability,.,.;GenCC_moi=.,XL|XLR,XL|XLD,AD|XL|XLD,.,.,XL|XLR,AD|XL|XLD,.,.;GenCC_classification=.,Definitive|Strong|Supportive,Definitive|Strong|Supportive,Definitive|Strong|Supportive,.,.,Definitive|Strong|Supportive,Definitive|Strong|Supportive,.,.;GenCC_pmid=.,10982473|15586325|15586325[PMID]|16538222|18203167|18697827|19826449|21575681|22326837|25666439|32279304,20473311|20473311[PMID]|21686261|23674175|23674175[PMID]|24306141|25167861|26544041|26733290|26793055|27665735|28295038|28815955|29026562|300522|30206421|30666632|31415821|31490346|31829726,16604071|17273969|20301283[PMID]|20635401|22106055|24124034|26354354|26358754|26386245|27334371|28102598|28166369|28548707|31334757|32222533[PMID],.,.,10521307|12555940|12696021|16148061|22127393|22127393[PMID],18252223|19377476|1968668|20231446|22840365|23721686|24303071|25644381|25985138|27418510|27615324|29180823|29180823[PMID],.,.;NCBI_gene_ID=.,8242,23096,8243,102465516,158787,3028,10075,407054,406889;OMIM_ID=314690|300522|300040|300256|300697,314690,300522,300040,.,.,300256,300697,.,.;OMIM_phenotype=.,Intellectual_developmental_disorder,_XL_syndromic,_Claes-Jensen_type,_300534_(3)_XLR,Intellectual_developmental_disorder,_XL_1,_309530_(3)_XLD,Cornelia_de_Lange_syndrome_2,_300590_(3)_XLD|Developmental_and_epileptic_encephalopathy_85,_with_or_without_midline_brain_defects,_301044_(3)_XLD,.,.,HSD10_mitochondrial_disease,_300438_(3)_XLD,Intellectual_developmental_disorder,_XL_syndromic,_Turner_type,_309590_(3)_XL,.,.;OMIM_inheritance=.,XLR,XLD,XLD,.,.,XLD,XL,.,.;OMIM_morbid=yes,yes,yes,yes,.,.,yes,yes,.,.;LOEUF_bin=0,0,0,0,.,1,1,0,.,.;GnomAD_pLI=1,1,0.99998,1,.,0.983,0.93604,1,.,.;ExAC_pLI=1,0.99784,0.97539,0.99999,.,0.96626,0.88687,1,.,.;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_gain_source,_+1.00)|2H-2_(HSD17B10/HUWE1/IQSEC2/SMC1A,_+0.00)|2J_(KDM5C,_+0.00)|3A_(9_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=53856257;SVLEN=605603 GT 1/. diff --git a/share/tcl/AnnotSV/AnnotSV-benignsv.tcl b/share/tcl/AnnotSV/AnnotSV-benignsv.tcl index f616123..5448548 100644 --- a/share/tcl/AnnotSV/AnnotSV-benignsv.tcl +++ b/share/tcl/AnnotSV/AnnotSV-benignsv.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-candidategenes.tcl b/share/tcl/AnnotSV/AnnotSV-candidategenes.tcl index 3b0d449..06ed5ee 100644 --- a/share/tcl/AnnotSV/AnnotSV-candidategenes.tcl +++ b/share/tcl/AnnotSV/AnnotSV-candidategenes.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-clingen.tcl b/share/tcl/AnnotSV/AnnotSV-clingen.tcl index 142b45b..d215ca5 100644 --- a/share/tcl/AnnotSV/AnnotSV-clingen.tcl +++ b/share/tcl/AnnotSV/AnnotSV-clingen.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-closestgenes.tcl b/share/tcl/AnnotSV/AnnotSV-closestgenes.tcl index 74a4d43..bf0f941 100644 --- a/share/tcl/AnnotSV/AnnotSV-closestgenes.tcl +++ b/share/tcl/AnnotSV/AnnotSV-closestgenes.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-config.tcl b/share/tcl/AnnotSV/AnnotSV-config.tcl index af66b08..3212679 100644 --- a/share/tcl/AnnotSV/AnnotSV-config.tcl +++ b/share/tcl/AnnotSV/AnnotSV-config.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-cosmic.tcl b/share/tcl/AnnotSV/AnnotSV-cosmic.tcl index 10d7b97..d0e3c20 100644 --- a/share/tcl/AnnotSV/AnnotSV-cosmic.tcl +++ b/share/tcl/AnnotSV/AnnotSV-cosmic.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-cytoband.tcl b/share/tcl/AnnotSV/AnnotSV-cytoband.tcl index a55482d..513c737 100644 --- a/share/tcl/AnnotSV/AnnotSV-cytoband.tcl +++ b/share/tcl/AnnotSV/AnnotSV-cytoband.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-encodeblacklist.tcl b/share/tcl/AnnotSV/AnnotSV-encodeblacklist.tcl index 7271453..d9b6630 100644 --- a/share/tcl/AnnotSV/AnnotSV-encodeblacklist.tcl +++ b/share/tcl/AnnotSV/AnnotSV-encodeblacklist.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-exac.tcl b/share/tcl/AnnotSV/AnnotSV-exac.tcl index 73a37a1..dbc0a25 100644 --- a/share/tcl/AnnotSV/AnnotSV-exac.tcl +++ b/share/tcl/AnnotSV/AnnotSV-exac.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-exomiser.tcl b/share/tcl/AnnotSV/AnnotSV-exomiser.tcl index c194730..08f5539 100644 --- a/share/tcl/AnnotSV/AnnotSV-exomiser.tcl +++ b/share/tcl/AnnotSV/AnnotSV-exomiser.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-extann.tcl b/share/tcl/AnnotSV/AnnotSV-extann.tcl index 0ca6b04..6f449a4 100644 --- a/share/tcl/AnnotSV/AnnotSV-extann.tcl +++ b/share/tcl/AnnotSV/AnnotSV-extann.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-filteredVCF.tcl b/share/tcl/AnnotSV/AnnotSV-filteredVCF.tcl index b561125..fa1352d 100644 --- a/share/tcl/AnnotSV/AnnotSV-filteredVCF.tcl +++ b/share/tcl/AnnotSV/AnnotSV-filteredVCF.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-gap.tcl b/share/tcl/AnnotSV/AnnotSV-gap.tcl index 1cc07f0..e51f788 100644 --- a/share/tcl/AnnotSV/AnnotSV-gap.tcl +++ b/share/tcl/AnnotSV/AnnotSV-gap.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-gccontent.tcl b/share/tcl/AnnotSV/AnnotSV-gccontent.tcl index f8d688b..d8acdaf 100644 --- a/share/tcl/AnnotSV/AnnotSV-gccontent.tcl +++ b/share/tcl/AnnotSV/AnnotSV-gccontent.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-gencc.tcl b/share/tcl/AnnotSV/AnnotSV-gencc.tcl index 941e54a..bc974a7 100644 --- a/share/tcl/AnnotSV/AnnotSV-gencc.tcl +++ b/share/tcl/AnnotSV/AnnotSV-gencc.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-general.tcl b/share/tcl/AnnotSV/AnnotSV-general.tcl index 1c749b4..971727e 100644 --- a/share/tcl/AnnotSV/AnnotSV-general.tcl +++ b/share/tcl/AnnotSV/AnnotSV-general.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-genes.tcl b/share/tcl/AnnotSV/AnnotSV-genes.tcl index 1847e12..b871589 100644 --- a/share/tcl/AnnotSV/AnnotSV-genes.tcl +++ b/share/tcl/AnnotSV/AnnotSV-genes.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-haploinsufficiency.tcl b/share/tcl/AnnotSV/AnnotSV-haploinsufficiency.tcl index 417c7cd..9c65dab 100644 --- a/share/tcl/AnnotSV/AnnotSV-haploinsufficiency.tcl +++ b/share/tcl/AnnotSV/AnnotSV-haploinsufficiency.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-help.tcl b/share/tcl/AnnotSV/AnnotSV-help.tcl index 809c69a..7f4081e 100644 --- a/share/tcl/AnnotSV/AnnotSV-help.tcl +++ b/share/tcl/AnnotSV/AnnotSV-help.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-loeuf-pLI.tcl b/share/tcl/AnnotSV/AnnotSV-loeuf-pLI.tcl index 818dbfb..8308bf4 100644 --- a/share/tcl/AnnotSV/AnnotSV-loeuf-pLI.tcl +++ b/share/tcl/AnnotSV/AnnotSV-loeuf-pLI.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-ncbi.tcl b/share/tcl/AnnotSV/AnnotSV-ncbi.tcl index 493f92c..658bdf5 100644 --- a/share/tcl/AnnotSV/AnnotSV-ncbi.tcl +++ b/share/tcl/AnnotSV/AnnotSV-ncbi.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-omim.tcl b/share/tcl/AnnotSV/AnnotSV-omim.tcl index 842841c..547e59a 100644 --- a/share/tcl/AnnotSV/AnnotSV-omim.tcl +++ b/share/tcl/AnnotSV/AnnotSV-omim.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-pathogenicsnvindel.tcl b/share/tcl/AnnotSV/AnnotSV-pathogenicsnvindel.tcl index c4a8b44..f05a952 100644 --- a/share/tcl/AnnotSV/AnnotSV-pathogenicsnvindel.tcl +++ b/share/tcl/AnnotSV/AnnotSV-pathogenicsnvindel.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-pathogenicsv.tcl b/share/tcl/AnnotSV/AnnotSV-pathogenicsv.tcl index a86490b..ce477c7 100644 --- a/share/tcl/AnnotSV/AnnotSV-pathogenicsv.tcl +++ b/share/tcl/AnnotSV/AnnotSV-pathogenicsv.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-phenogenius.tcl b/share/tcl/AnnotSV/AnnotSV-phenogenius.tcl index c2a808b..42f60c8 100644 --- a/share/tcl/AnnotSV/AnnotSV-phenogenius.tcl +++ b/share/tcl/AnnotSV/AnnotSV-phenogenius.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-ranking.tcl b/share/tcl/AnnotSV/AnnotSV-ranking.tcl index 0c828cd..1f67236 100644 --- a/share/tcl/AnnotSV/AnnotSV-ranking.tcl +++ b/share/tcl/AnnotSV/AnnotSV-ranking.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-regulatoryelements.tcl b/share/tcl/AnnotSV/AnnotSV-regulatoryelements.tcl index f80b3e0..3f333a9 100644 --- a/share/tcl/AnnotSV/AnnotSV-regulatoryelements.tcl +++ b/share/tcl/AnnotSV/AnnotSV-regulatoryelements.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-repeat.tcl b/share/tcl/AnnotSV/AnnotSV-repeat.tcl index b3e4a4a..e8816cc 100644 --- a/share/tcl/AnnotSV/AnnotSV-repeat.tcl +++ b/share/tcl/AnnotSV/AnnotSV-repeat.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-segdup.tcl b/share/tcl/AnnotSV/AnnotSV-segdup.tcl index 8d9f301..765cdc8 100644 --- a/share/tcl/AnnotSV/AnnotSV-segdup.tcl +++ b/share/tcl/AnnotSV/AnnotSV-segdup.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-tad.tcl b/share/tcl/AnnotSV/AnnotSV-tad.tcl index c5aade7..8665673 100644 --- a/share/tcl/AnnotSV/AnnotSV-tad.tcl +++ b/share/tcl/AnnotSV/AnnotSV-tad.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-userBED.tcl b/share/tcl/AnnotSV/AnnotSV-userBED.tcl index a69d791..ab9aa61 100644 --- a/share/tcl/AnnotSV/AnnotSV-userBED.tcl +++ b/share/tcl/AnnotSV/AnnotSV-userBED.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-variantconvert.tcl b/share/tcl/AnnotSV/AnnotSV-variantconvert.tcl index 3a4409d..168716e 100644 --- a/share/tcl/AnnotSV/AnnotSV-variantconvert.tcl +++ b/share/tcl/AnnotSV/AnnotSV-variantconvert.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-vcf.tcl b/share/tcl/AnnotSV/AnnotSV-vcf.tcl index fae7776..636f9be 100644 --- a/share/tcl/AnnotSV/AnnotSV-vcf.tcl +++ b/share/tcl/AnnotSV/AnnotSV-vcf.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-write.tcl b/share/tcl/AnnotSV/AnnotSV-write.tcl index 340b523..53681af 100644 --- a/share/tcl/AnnotSV/AnnotSV-write.tcl +++ b/share/tcl/AnnotSV/AnnotSV-write.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.2 # +# AnnotSV 3.4.3 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # #