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["Supplementary Table 6. Non-Exon 1/Intron 1 CNVs"]
["Gene","Type","CN State","CNV Size (Kb)","Marker Count","ID #a","Exons, Intronsb","Protein Annotation","CGIc","with enhancers","with active TSS","methylC-seqd ovary vs testes","RNA-Seqe fetal vs adult ovary","H3K27Ac","TFM totalf","chromHMMg Ovary","Molecular Functionh","Biological Process (Urogenital, Reproductive)h","Full Location"]
["AHRR","Loss",1,8.766,14,"D16, D21","intron 4","PAS","none","none","none","similar","slight difference in 5'","yes ",5,"weak","DNA binding, transcription factor binding, negative regulation of transcription, signal transduction","ND","chr5:403928-412694"]
["AHRR","Loss",1,14.484,18,"D12","exon 5","PAS","none ",1,"none ","mC+ ov (enh)","slight difference in 5'","yes ",8,"weak","DNA binding, transcription factor binding, negative regulation of transcription, signal transduction","ND","chr5:403928-418412"]
["AHRR","Loss",1,19.77,19,"D17","exons 5-6 ","2 PAS  ","1 (intron 5)",1,"none ","mC+ in ov (enh and CGI)","slight difference in 5'","yes ",15,"weak ","DNA binding, transcription factor binding, negative regulation of transcription, signal transduction","ND","chr5:403928-423698"]
["AR","Loss",1,190.517,86,"D3","exons 2-8 (intron 1)","none ","none","multiple ","none","similar","similar ","yes ","multiple","weak, strong, WRP","androgen binding and receptor activity, ATPase, beta-catenin, chromatin, DNA, enzyme, Zinc ion binding, transcription regulation","androgen metabolism ","chrX:66791273-66981790"]
["ATRX","Gain",2,2.206,10,"D37","intron 23 ","none ","none ","none ","none ","similar ","different ","none ","none ","WRP","ATP, chromatin, chromo shadow domain, DNA, histone, zinc ion binding; DNA helicase , DNA translocase activity","development of seminiferous tubule and Sertoli cell, spermatogenesis","chrX:76867672-76869878"]
["ATRX","Gain",3,5.187,12,"D30","intron 23 ","none ","none ","none ","none ","similar","different ","none ","none ","none ","ATP, chromatin, chromo shadow domain, DNA, histone, zinc ion binding; DNA helicase , DNA translocase activity","development of seminiferous tubule and Sertoli cell, spermatogenesis","chrX:76864691-76869878"]
["AXIN1","Loss",1,2.087,8,"D51","intron 4","Int: GSK3B","none ",1,"none ","mC+ testes (enh)","different ","yes ",1,"strong, weak","protein domain and kinase binding, GTPase activator activity, protein complex scaffold, signal transduction","ND","chr16:356221-358308"]
["AXIN1","Loss",1,12.735,44,"D42","exons 4-5","Int: GSK3B, TP53 (5')","1 (orphan exon 5)",1,"none ","mC+ testis (enhancer)","similar ","yes ",4,"strong, weak ","protein domain and kinase binding, GTPase activator activity, protein complex scaffold, signal transduction","ND","chr16:351832-364567"]
["AXIN1","Loss",1,6.579,16,"D34, D44, D52","exon 5","Int: GSK3B","1 (orphan exon 5)",1,"none","mC+ in testis @ enhancer region (LIMC4 LINE)","similar","yes ",3,"strong","protein domain and kinase binding, GTPase activator activity, protein complex scaffold, signal transduction","ND","chr16:351729-358308"]
["BNC2","Loss",1,2.069,8,"D52","intron 2","none ","none","none","none","similar","different ","none","none ","weak","DNA and ion metal binding","spermatozoa and oocyte differentiation","chr9:16732188-16734257"]
["CHD7","Loss",1,11.4,9,"D1","exons 35-38","phosphothr/ser, Ala-rich, beta, turn, helix","none ","none ","none ","similar ","different ","yes (1)","none ","weak ","DNA, ATP binding, transcription regulator, rRNA synthesis","development of genitalia","chr8:61770058-61781481"]
["CNTNAP3","Gain",3,374.048,66,"D14","exons 19-24","cytoplasmic, CNTNAP3, transmembrane helical, extracellular, laminin G-like 4",1,"none","none","different ","different ","yes (two thin peaks on distal 3')","multiple","none","ND","ND","chr9:38715210-39089258"]
["CREBBP","Loss",1,5,7,"D4","intron 2","CREBBP, breakpoint for KAT6A-CREBBP, Int:SRCAP","none","none ","none ","similar ","different ","yes (2)",3,"none ","chromatin and DNA binding, transcription regulation","ND","chr16:3893128-3898479"]
["CTNNA3","Gain",4,6.612,5,"D37","intron 5","none ","none ",2,"2 (flanking)","mC+ testis (aTSS)","RS+ adult","none ","multiple","weak","beta-catenin, cadherin, cell adhesive protein binding","ND","chr10:69017317-69023929"]
["CTNNA3","Gain",3,15.582,18,"D21","intron 7","none ","none ","none ","none ","similar ","RS++ adult","none ","none ","none ","beta-catenin, cadherin, cell adhesive protein binding","ND","chr10:68633770-68649352"]
["CTNNA3","Gain",4,14.283,15,"D14","intron 7","none ","none ",2,"2 (flanking)","similar ","different ","none ","multiple","none","beta-catenin, cadherin, cell adhesive protein binding","ND","chr10:68635069-68649352"]
["CTNNA3","Loss",1,22.158,12,"D46","intron 9","none ","none ","none ","none ","similar ","different ","none ",2,"none ","beta-catenin, cadherin, cell adhesive protein binding","ND","chr10:68467757-68489915"]
["CTNNA3","Loss",1,92.181,104,"D43","exon 10 near 5'","none ","none ",2,"1 (next to enhancer)","mC+ testis (aTSS/enh, enh)","different ","none ","multiple ","heterochromatin (LIPA13)","beta-catenin, cadherin, cell adhesive protein binding","ND","chr10:68290294-68382475"]
["CTNNA3","Loss",1,31.747,33,"D10","intron 12 ","none ","none ",2,"none ","mC+ testis (enhancer)","RS++ adult","none ",4,"weak","beta-catenin, cadherin, cell adhesive protein binding","ND","chr10:68077579-68109326"]
["CTNNA3","Loss",1,7.416,8,"D27","intron 13","none ","none ","none ","none ","similar ","RS++ adult","none ","none ","none ","beta-catenin, cadherin, cell adhesive protein binding","ND","chr10:67957367-67964783"]
["CTNNB1","Gain",3,19.067,43,"D18","exons 8-17","CTNNB1; ARM 4-12 repeats; phosphotyrosine, threonine, serine; interaction with SCRIB","none ","3 (enh, genic enh)","none ","mC+ testis (Charlie18a DT)","similar","yes ",5,"strong, weak","androgen and estrogen receptor binding, DNA binding, protein and enzyme binding, transcription regulation, signal transduction","adrogen receptor signaling pathway, ureteric bud and genitalia morphogenesis, development of prostate gland, male genitalia, oocyte, oviduct, nephron tubules","chr3:41268626-41287693"]
["CTNNB1","Gain",3,10.332,27,"D16, D17","exons 9-15","CTNNB1, ARM 6-12 repeats, phosphothreonine, serine, tyrosine","none","2 (genic)","none","different ","RS++ fetal","yes ","none","strong, weak ","androgen and estrogen receptor binding, DNA binding, protein and enzyme binding, transcription regulation, signal transduction","adrogen receptor signaling pathway, ureteric bud and genitalia morphogenesis, development of prostate gland, male genitalia, oocyte, oviduct, nephron tubules","chr3:41269515-41279847"]
["CTNNB1","Gain",4,9.628,13,"D21","exons 9-14","CTNNB1, ARM 6-12 repeats, phosphothreonine, serine, tyrosine","none ","2 (genic)","none","similar ","similar ","yes ","none ","strong, weak","androgen and estrogen receptor binding, DNA binding, protein and enzyme binding, transcription regulation, signal transduction","adrogen receptor signaling pathway, ureteric bud and genitalia morphogenesis, development of prostate gland, male genitalia, oocyte, oviduct, nephron tubules","chr3:41269515-41279143"]
["CXCL12","Gain",3,8.082,12,"D21","exon 4","SDF-1, stromal cell derived factor 1","none ","1  (distal 3')","none","mc+ testis (enh 5' distal)","similar ","yes ",1,"strong, weak ","chemokine activity and receptor binding ","germ cell development and migration, patterning of blood vessels","chr10:44861948-44870030"]
["DHRSX","Loss",1,48.838,106,"D46","exons 2-3","DHRSX, NAD/NADP binding exon 2","none ",1,"none ","mC+ testis (enhancer)","similar ","yes ","multiple","strong, weak, Zn genes and repeats","oxidoreductase activity","ND","chrX:2312607-2361445"]
["DHRSX","Loss",1,1.343,8,"D26","exon 3","DHRSX box exon 2","none","none","none","different ","different ","none ","none ","strong, weak","oxidoreductase activity","ND","chrX:2326759-2328102"]
["DHRSX","Loss",1,1.831,12,"D40","intron 3","DHRSX","none ","none","none","similar ","different ","none ",3,"weak","oxidoreductase activity","ND","chrX:2300314-2302145"]
["DHRSX","Loss",1,24.485,52,"D46","intron 3","DHRSX","none ","none ","none ","mC+ ovary (middle)","different ","yes ","multiple","weak","oxidoreductase activity","ND","chrX:2277660-2302145"]
["DHRSX","Gain",4,1.118,27,"D31","intron 3","DHRSX","none ","none","none","similar ","different ","none ",1,"weak","oxidoreductase activity","ND","chrX:2302204-2303322"]
["DHRSX","Gain",3,1.174,28,"D25","intron 3","DHRSX","none ","none ","none","similar ","RS++ adult","none ",2,"weak ","oxidoreductase activity","ND","chrX:2302148-2303322"]
["DMD","Gain",2,2.449,16,"D23, D37","intron 2 ","acting binding, CH1","none ","none ","none","similar","RS+ adult","none ","none ","none","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32881263-32883712"]
["DMD","Gain",2,9.609,18,"D28","intron 2 ","acting binding, CH1","none ","none","none ","mC+ ov (LINE)","different ","yes ","1 (5') ","none","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32881263-32890872"]
["DMD","Gain",2,9.618,22,"D30","intron 2 ","acting binding, CH1","none ","none","none","mC+ ov ","different","yes (2)","1 (5') ","none","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32881254-32890872"]
["DMD","Loss",1,9.823,20,"D29","intron 2 ","acting binding, CH1","none","none","none","mC+ ov","different ","yes ","1 (5') ","none","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32881263-32891086"]
["DMD","Loss",0,2.617,12,"D32","intron 2 ","acting binding, CH1","none","none","none","similar ","different ","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32987572-32990189"]
["DMD","Loss",0,4.432,9,"D38","intron 2 ","acting binding, CH1","none","none","none","similar ","different ","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32919686-32924118"]
["DMD","Gain",2,1.623,12,"D31","intron 7","acting binding, CH2","none","none","none ","different ","different ","none ","none ","WRP","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32814882-32816505"]
["DMD","Loss",0,1.085,28,"D40","intron 7","acting binding, CH2","none","none","none ","different ","different ","none ","none ","none","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32742109-32743194"]
["DMD","Loss",1,1.111,24,"D29","intron 7","acting binding, CH2","none","none","none ","different ","different ","none ","none ","none","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32742233-32743344"]
["DMD","Loss",1,1.88,39,"D52","intron 7","acting binding, CH2","none","none","none ","different ","different ","none ","none ","none","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32741513-32743393"]
["DMD","Loss",1,3.564,8,"D52","exons 8-9","exon 8 - acting binding, CH2","none","none","none ","different ","different ","none ","none ","none","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32714242-32717806"]
["DMD","Loss",1,3.633,12,"D29","exons 8-9","exon 8 - acting binding, CH2","none","none","none ","different ","different ","none ","none ","none","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32714173-32717806"]
["DMD","Loss",1,2.014,10,"D52","intron 9 ","none ","none","none ","none ","mC+ ov","different ","none ","none ","none","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32697992-32700006"]
["DMD","Loss",1,7.032,25,"D29","intron 9 ","none ","none ","none ","none ","mC+ ov (middle)","different ","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32683898-32690930"]
["DMD","Loss",0,5.091,16,"D48","intron 9 ","none ","none ","none ","none ","mC+ ov (middle)","different ","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32685839-32690930"]
["DMD","Loss",0,5.099,18,"D42","intron 9 ","none ","none ","none ","none ","mC+ ov (middle)","different ","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32685839-32690938"]
["DMD","Loss",0,6.299,40,"D48, D52","intron 17","spectrin 4 repeat","none ","none ",1,"mC+ @ aTSS testis","RS++ adult @aTSS; RS++ fetal at distal side","none ",3,"WRP","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32547454-32553753"]
["DMD","Loss",0,1.686,6,"D40","exon 18","spectrin 4 on exon 18","none ","none ","none ","similar ","different ","none ","none ","WRP","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32535396-32537082"]
["DMD","Loss",0,3.89,15,"D41","exons 40-41","repeat exons 40-41; Int: SYNM exon 40","none","none ","none ","similar ","similar ","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32358094-32361984"]
["DMD","Loss",0,5.741,12,"D41","exon 48","spectrin 18, 19 repeat exon 48","none ",2,"none","mC+ testis (tnxn site)","similar ","none ","1 (intron 48)","WRP","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31889157-31894898"]
["DMD","Gain",2,17.369,48,"D30","intron 44","repeat ","none","1 (5' shorter transcript)","none ","similar ","different ","none ",1,"none","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32190978-32208347"]
["DMD","Gain",4,3.509,11,"D29","intron 44","spectrin 17 repeat","none","none","none","similar ","RS+ adult","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32141943-32145452"]
["DMD","Gain",4,3.728,12,"D34","intron 44","spectrin 17 repeat","none","none","none","similar ","RS+ adult","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32141943-32145671"]
["DMD","Gain",4,3.731,15,"D44","intron 44","spectrin 17 repeat","none","none","none","similar ","RS+ adult","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:32141940-32145671"]
["DMD","Loss",0,5.023,7,"D23","exon 48","spectrin 18, 19 repeat exon 48","none",2,"none","similar ","similar ","none ","1 (intron 48)","WRP, weak","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31889293-31894316"]
["DMD","Loss",0,5.159,11,"D50","exon 48","spectrin 18, 19 repeat exon 48","none",2,"none","similar ","similar ","none ","1 (intron 48)","WRP, weak","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31889157-31894316"]
["DMD","Loss",0,2.816,16,"D42, D52","intron 55","spectrin 24 repeat ","none","none ","none ","similar","RS+ adult","none ","1 (5') ","WRP","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31536866-31539682"]
["DMD","Loss",0,9.647,36,"D48","intron 55","spectrin 24 repeat ","none","none ","none ","similar ","different ","none ",2,"WRP","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31527231-31536878"]
["DMD","Loss",1,1.303,20,"D52","intron 55","spectrin 24 repeat ","none","none ","none ","similar ","different ","none ","none ","WRP","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31619570-31620873"]
["DMD","Loss",1,9.846,52,"D44","intron 55","spectrin 24 repeat ","none ","none","none ","similar","different ","none ",2,"WRP (2)","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31527032-31536878"]
["DMD","Loss",0,2.172,6,"D48","intron 59","spectrin 24 repeat ","none ","none ","none ","similar","different ","none ",1,"none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31477159-31479331"]
["DMD","Loss",0,1.177,5,"D20","intron 59 ","spectrin 24 repeat ","none ","none ","none ","similar","different ","none ","1 (5') ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31481839-31483016"]
["DMD","Gain","4, 2",1.395,10,"D34, D42, D44, D52","intron 59","spectrin 24 repeat ","none ","none","none ","similar","none (both)","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31481035-31482430"]
["DMD","Loss",1,1.519,24,"D52","intron 60 ","spectrin 24 repeat ","none ","none ","none ","similar ","different ","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31445284-31446803"]
["DMD","Loss",1,3.142,26,"D29","intron 60 ","spectrin 24 repeat ","none ","none ","none ","similar ","different ","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31458625-31461767"]
["DMD","Loss",1,4.72,22,"D51","intron 60 ","spectrin 24 repeat ","none ","none ","none ","similar ","different ","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31456266-31460986"]
["DMD","Loss",1,5.495,24,"D44","intron 60 ","spectrin 24 repeat ","none ","none ","none ","similar ","different ","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31456266-31461761"]
["DMD","Gain",4,2.239,18,"D34","intron 60 ","spectrin 24 repeat ","none ","none ","none ","similar ","different ","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31456581-31458820"]
["DMD","Gain",4,2.371,20,"D30","intron 60 ","spectrin 24 repeat ","none ","none ","none ","similar ","different ","none ","none ","none ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31456450-31458821"]
["DMD","Gain",2,6.423,20,"D31","intron 62","Int: SYNM; WW","none ","none ","none ","similar ","different ","yes ",4,"WRP","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31286292-31292715"]
["DMD","Loss",0,2.775,8,"D38","intron 62","Int: SYNM; WW","none","none","none","similar ","different ","none ","none ","none","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31338464-31341239"]
["DMD","Gain",4,1.973,11,"D29","intron 74","binds to SNTB1","none","none","none","similar ","different ","none ",2,"none","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31171005-31172978"]
["DMD","Gain",4,2.695,12,"D44","intron 74","binds to SNTB1","none ","none ","none ","similar ","different ","none ",4,"weak ","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31171005-31173700"]
["DMD","Gain",2,5.031,14,"D30","exons 75-76","exon 75 binds to SNTB1; exon 76 - phosphoserine","none ","none ","none ","similar ","similar ","none ","none ","strong, weak","myofilament binding, enzyme and zinc ion binding ","ND","chrX:31161453-31166484"]
["EP300","Gain",4,3.107,16,"D29, D48","exons 7-8","histone acetyltransferase p300; KIX, omega-N-methylated arginine by CARM1","none","none ","none","similar","RS++ fetal (exon 7)","none ","none ","strong ","androgen receptor binding, DNA and transcription factor binding, ","regulation of androgen receptor signaling, response to estrogen","chr22:41530715-41533822"]
["EP300","Loss",1,3.581,14,"D13","exons 8-10","histone acetyltransferase p300 ; KIX, omega-N-methylated arginine by CARM2; N6-acetyllysine","none ","none ","none ","similar ","RS++ fetal","none ","none ","strong ","androgen receptor binding, DNA and transcription factor binding, ","regulation of androgen receptor signaling, response to estrogen","chr22:41533653-41537234"]
["ESR1","Loss",1,28,28,"D27","intron 7","Int:AKAP13, self-association, steroid binding, helix","none ",1,"none ","similar ","different ","none",4,"weak ","estrogen receptor activity, DNA binding","androgen metabolism, ovarian follicle growth, development of gonad, uterus and vagina, mammary gland branching","chr6:152343717-152371764"]
["ESR1","Gain",3,25,8,"D30","intron 7","Int:AKAP13, self-association, steroid binding, helix","none ","none","none ","similar ","different ","none",4,"weak ","estrogen receptor activity, DNA binding","androgen metabolism, ovarian follicle growth, development of gonad, uterus and vagina, mammary gland branching","chr6:152343717-152368910"]
["ESR2","Gain",3,8.583,21,"D13","exons 7-8","DNA-binding, Zn-finger, modulating, phospho site","none ","none ","none ","similar ","similar ","yes ","2 (exon 8, intron 6)","weak ","estrogen receptor activity, DNA binding","estrogen receptor signaling pathway","chr14:64745878-64754461"]
["ESR2","Gain",4,4.786,8,"D42, D44","exon 9","steroid-binding, DNA-binding, Zn-finger","none ","none ","none ","similar ","similar","yes ","1 (intron 9)","weak","estrogen receptor activity, DNA binding","estrogen receptor signaling pathway","chr14:64732353-64737139"]
["ESR2","Loss",1,12.839,19,"D13","exon 9","steroid-binding, DNA-binding, Zn-finger","none ","none ","none ","similar ","similar","yes ","1 (intron 9)","weak","estrogen receptor activity, DNA binding","estrogen receptor signaling pathway","chr14:64732560-64745399"]
["ESR2","Gain",4,10.456,12,"D34","exon 9","steroid-binding, DNA-binding, Zn-finger","none ","none ","none ","similar ","similar","yes ","1 (intron 9)","weak","estrogen receptor activity, DNA binding","estrogen receptor signaling pathway","chr14:64732353-64742809"]
["ESR2","Loss",1,1.469,12,"D42","intron 9 ","steroid binding ","none","none","none","similar ","different ","none","none ","none ","estrogen receptor activity, DNA binding","estrogen receptor signaling pathway","chr14: 64730793-64732262"]
["ESR2","Loss",1,2.983,12,"D1","intron 12","steroid binding ","none",1,"none","similar ","different","none",1,"weak","estrogen receptor activity, DNA binding","estrogen receptor signaling pathway","chr14:64703991-64706974"]
["ESR2","Loss",1,3.243,18,"D9","intron 12","steroid binding ","none",1,"none","similar ","different","none",1,"weak","estrogen receptor activity, DNA binding","estrogen receptor signaling pathway","chr14:64703991-64707234"]
["ESR2","Loss",1,3.383,17,"D10","intron 12","steroid binding ","none",1,"none","similar ","different","none",1,"weak","estrogen receptor activity, DNA binding","estrogen receptor signaling pathway","chr14:64703636-64707019"]
["ESR2","Loss",1,3.607,21,"D13","intron 12","steroid binding ","none ",1,"none","similar ","different","none",1,"weak","estrogen receptor activity, DNA binding","estrogen receptor signaling pathway","chr14:64703627-64707234"]
["ESR2","Gain",3,7.276,38,"D21","exon 13","steroid-binding ","none","1 (MIR3 SINE)","none ","mC+ in testis (enhancer)","different ","yes ","2 (introns, 13)","strong, weak ","estrogen receptor activity, DNA binding","estrogen receptor signaling pathway","chr14:64696361-64703637"]
["FGD1 ","Loss",1,507,184,"D3","exons 13-18 (WNK3, PHF8, FAM120C)","ATP-binding, phosphothr/ser, PH 1","none ",2,1,"mC++ testis","different ","yes (1)","multiple","strong, weak","GTP releasing factor, metal ion binding",null,"chrX:53974195-54481287"]
["FGF7 ","Loss",1,139,112,"D51","exons 3-4 (FAM227B)","FGF7","none",4,1,"different ","different ","none ","multiple","strong, weak, 4 heterochromatin","chemokine, growth factor","development of ovarian follicle","chr15:49747753-49886731"]
["FGFR2","Gain",4,6,6,"D38","intron 5","cytoplasmic, FGFR2, protein kinase, phosphotyr, enzyme activity site","none ",1,"none ","different (enh)","different ","yes (2)","none","weak","ATP binding, growth factor, kinase, receptor","prostate gland branching, development of reproductive structure and ureteric bud","chr10:123245756-123251856"]
["FGFR2","Loss",1,6,9,"D4","exons 14-15","FGFR2, extracellular, Ig-like C2-type 2, beta","none ","none ","none ","similar ","different ","yes (1)",2,"weak","ATP binding, growth factor, kinase, receptor","prostate gland branching, development of reproductive structure and ureteric bud","chr10:123298956-123302647"]
["FLNA","Gain",3,22.858,40,"D1","exons 6-48","hinge 2, FLNA, repeat, N6-acetyllysine, modification, repeats, phosphoprotein, hinge 1, Int: furin","2 (exon 29, distal 3')","none ","none ","similar ","similar ","none ","multiple ","none ","actin filament, Fc-gamma receptor I complex, glycoprotein  \npoly(A) RNA, GTPase, transcription factor binding;  homodimerization activity; signal transduction","cytoskeleton organization, mesenchymal transition","chrX:153572560-153595418"]
["FLT1","Loss",1,2.417,8,"D4","exon 24","cytoplasmic, VEGFR1, protein kinase ","none","none ","none ","similar ","similar ","none ",2,"none ","ATP binding, transmembrane receptor kinase activity, VEGFR activity","embryonic morphogenesis, VEGFR signaling","chr13:28892652-28895069"]
["FLT1","Loss",1,11.378,5,"D4","intron 3","VEGFR1, extracellular","none ",1,"none ","mC+ ov (enh)","RS++ adult","yes ","multiple","WRP","ATP binding, transmembrane receptor kinase activity, VEGFR activity","embryonic morphogenesis, VEGFR signaling","chr13:29022392-29033770"]
["FRAS1 ","Loss",1,11.475,8,"D22, D24, D26, D42","exon 30","none ","none","none ","none ","similar","RS+ in fetal (exon 30), RS+ in adult 3' distal","yes ","1 (intron 4)","none ","metal ion binding","metanephros morphogenesis ","chr4:79314556-79326031"]
["GATA4","Loss",1,7,14,"D12","intron 2","none ","none ",5,3,"mC++ ov","different","yes (1)",5,"weak","binding of activation transcription factor, chromatin, DNA, enhancer, Zn ion","response to FSH, development of male gonad, seminiferous tubule, Sertoli differentiation, spermatogenesis","chr8:11591790-11599043"]
["GFRA1","Gain",3,18.277,19,"D14","exon 5","GDNF family receptor 1","none ","1 (exon 5)","none ","different ","RS++ adult","yes ","multiple","none ","glial cell-derived neurotrophic factor receptor binding and activity","receptor signaling","chr10:117959747-117978024"]
["GFRA1","Gain",3,21.989,21,"D19","exon 5","GDNF family receptor 1","none ","1 (exon 5)","none ","different ","RS++ adult","yes ","multiple","none ","glial cell-derived neurotrophic factor receptor binding and activity","receptor signaling","chr10:117961272-117983261"]
["GRIP1 ","Gain",4,8.432,11,"D5","intron 5","none ","none ","none ","none ","similar ","RS+ fetal","none ","none ","none ","androgen receptor, beta catenin, glucocorticoid receptor binding","androgen receptor signaling pathway ","chr12:66914191-66922623"]
["GRIP1 ","Loss",1,15.333,12,"D1","exon 14","none ","none ","none ","none ","similar ","RS++ adult","yes ",1,"none ","androgen receptor, beta catenin, glucocorticoid receptor binding","androgen receptor signaling pathway ","chr12:66809650-66824983"]
["HHAT","Loss",1,3,8,"D31","intron 7","none ","none ","none ","none ","similar ","RS+ adult","none","none ","none","GtP binding, palmitoyltransferase activitiy","ND","chr1:210633051-210635906"]
["HSD17B3","Gain",4,7,4,"D18","intron 2 ","NADP binding","none ","none ","none ","similar ","different ","none",2,"none ","dehydrogenase activity","synthesis of androgen and testosterone, development of male genitalia","chr9:99042002-99049296"]
["INSR","Loss",1,13.98,16,"D24","intron 2 ","insulin receptor subunit alpha, extracellular, cys-rich","none ",4,"none ","mC+ testis","RS++ adult","yes ",7,"weak","nucleotide binding, insulin and receptor binding, protein tyrosine kinase activity \n","development of adrenal gland, and male and female gonads, male sex determination, insulin receptor signaling","chr19:7205183-7219163"]
["ANOS1","Gain",2,7,18,"D40","intron 2","anosmin-1","none","none","none","similar ","different","yes (1)",1,"none","extracellular matrix component, heparin binding","ND","chrX:8660817-8667509"]
["KANK1 ","Loss",1,4.123,8,"D43","intron 5","none ","none ","none ","none ","similar ","different ","yes ",1,"none ","beta-catenin binding, transcription regulation","cytoskeleton metabolism, insulin signaling pathway, ","chr9:602825-606948"]
["KANK1 ","Gain",3,15.615,15,"D17","intron 6","none ","none",3,3,"mC+ testis","different ","yes ",5,"weak","beta-catenin binding, transcription regulation","cytoskeleton metabolism, insulin signaling pathway, ","chr9:689232-704847"]
["KANK1 ","Gain",3,5.594,12,"D20","intron 6","none ","none",1,3,"mC+ testis","different ","yes ",2,"weak","beta-catenin binding, transcription regulation","cytoskeleton metabolism, insulin signaling pathway, ","chr9:689232-694826"]
["KANK1 ","Gain",4,5.354,7,"D16","intron 6","none ","none",1,3,"mC+ testis","different ","yes ",2,"weak","beta-catenin binding, transcription regulation","cytoskeleton metabolism, insulin signaling pathway, ","chr9:689472-694826"]
["KANK1 ","Gain",3,32.062,41,"D18","exon 6","none ","none ",4,"3 intron 6 (1 near exon 6, 2 flank, aTSS)","mC+ testis (aTSS)","similar ","yes ","multiple ","weak ","beta-catenin binding, transcription regulation","cytoskeleton metabolism, insulin signaling pathway, ","chr9:672785-704847"]
["MOV10L1","Loss",1,6.774,7,"D13","intron 2 ","none ","none ","none ","none ","similar ","RS++ adult","none ","none ","WRP","ATP binding and enzyme activity, magnesium ion and RNA binding","spermatogenesis, germ cell development","chr22:50531203-50537977"]
["MOV10L1","Loss",1,4.586,5,"D14","intron 2 ","none ","none ","none ","none ","similar ","RS++ adult","none ","none ","WRP","ATP binding and enzyme activity, magnesium ion and RNA binding","spermatogenesis, germ cell development","chr22:50531203-50535789"]
["MOV10L1","Loss",1,9.97,8,"D33, D35, D37, D46","exons 16-19","nucleotide phosphate binding","none ","1 (exon 16, AT-rich)","none ","mC+ in testis at enchancer region, intron 19 (MER33 DT)","RS++ fetal (enh)","none ",5,"none ","ATP binding and enzyme activity, magnesium ion and RNA binding","spermatogenesis, germ cell development","chr22:50576565-50586535"]
["NLGN4X","Gain",2,2.038,12,"D25","intron 2 ","NLGN4X, extracellular ","none ",1,"none ","similar ","different ","none ","none ","heterochromatin, weak","cell adhesion molecule, chloride ion, neurexin, scaffold binding","ND","chrX:5992846-5994884"]
["NLGN4X","Gain",2,1.526,12,"D31","intron 2 ","NLGN4X, extracellular ","none ","none","none ","similar ","different ","none ","none ","none","cell adhesion molecule, chloride ion, neurexin, scaffold binding","ND","chrX:5964702-5966228"]
["NLGN4X","Gain, Loss",4,1.53,16,"D29, D34, D44","intron 2 ","NLGN4X, extracellular ","none ","none","none ","similar ","different ","none ","none ","none","cell adhesion molecule, chloride ion, neurexin, scaffold binding","ND","chrX:5964698-5966228"]
["NLGN4X","Loss",0,3.23,12,"D40","intron 3","NLGN4X, extracellular ","none","none ","none ","similar ","different","none ",1,"weak","cell adhesion molecule, chloride ion, neurexin, scaffold binding","ND","chrX:5931522-5934752"]
["NLGN4X","Loss",0,3.109,7,"D48","intron 3","NLGN4X, extracellular ","none","none ","none ","similar ","different","none ",1,"weak","cell adhesion molecule, chloride ion, neurexin, scaffold binding","ND","chrX:5931522-5934631"]
["NLGN4X","Loss",1,4.77,23,"D29","intron 3","NLGN4X, extracellular ","none ","none ","none ","similar ","RS++ adult","none ",1,"weak","cell adhesion molecule, chloride ion, neurexin, scaffold binding","ND","chrX:5930975-5935745"]
["NOTCH1","Loss",0,4.371,8,"D29, D32, D52","intron 2","NOTCH1, extracellular, EGF-like 1","1 (orphan)","none ","none ","similar","different ","yes ",5,"weak","calcium ion, DNA, enzyme binding, transcription ","prostate gland epithelium morphogenesis, prostate glandular acinus development, spermatogenesis, development of collecting duct, distal tubule, glomerulus","chr9:139427576-139431947"]
["NOTCH3","Gain",3,19.822,46,"D12, D15","exons 2-20"," neurogenic locus notch3, extracellular, EGF-like",3,"1 (orphan CGI, intron 2)","1 (orphan CGI, intron 2, enh)","mC+ in ovary @ aTSS, exons 7-11, 18-20","similar ","yes ","multiple","weak","calcium ion binding","glomerular capillary formation","chr19:15290411-15310233"]
["NOTCH3","Gain",3,27.041,38,"D6","exons 13-33","cytoplasmic, intracellular domain, extracellular truncation, neurogenic locus notch3, ANK repeats, helical, extracellular, LNR repeats, EGF-like","3 (orphan)","none ","2 (intron 22 and CGI)","mC+ ov (none in aTSS)","similar ","yes ","multiple","strong, weak","calcium ion binding","glomerular capillary formation","chr19:15270535-15297576"]
["NR5A2","Loss",1,1.112,6,"D25","intron 5","ligand-binding","none ","none ","none ","similar","different ","none ","none ","none ","binding of chromatin, DNA, enzyme, phospholipid, Zn ion, transcription regulation, steroid hormone activity","cholesterol homeostasis","chr1:200070764-200071876"]
["NR5A2","Loss",1,4.529,14,"D25","intron 7","none ","none ","none ","none ","similar ","RS+ adult","none ",1,"WRP","binding of chromatin, DNA, enzyme, phospholipid, Zn ion, transcription regulation, steroid hormone activity","cholesterol homeostasis","chr1:200137648-200142177"]
["NR5A2","Loss",1,2.896,10,"D28","intron 7","none ","none ","none ","none ","similar ","RS+ adult","none ",1,"WRP","binding of chromatin, DNA, enzyme, phospholipid, Zn ion, transcription regulation, steroid hormone activity","cholesterol homeostasis","chr1:200139281-200142177"]
["OCA2","Gain",4,2.422,8,"D42","intron 2 ","cytoplasmic","none ","none ","none ","similar ","none (both)","none ",3,"none ","L-tyrosine transmembrane transporter activity ","spermatid development","chr15:28303061-28305483"]
["OCA2","Gain",4,11.157,11,"D16, D18, D21","intron 19","transmembrane ","none ","none","none","similar","RS++ fetal","none ",2,"none","L-tyrosine transmembrane transporter activity ","spermatid development","chr15:28183325-28194482"]
["OCA2","Gain",3,29.279,24,"D21","intron 23 ","extracellular ","2 (orphan)","none ","none ","mC+ in ov (2 CGI, 1 het)","different ","none ","multiple","3 heterochromatin","L-tyrosine transmembrane transporter activity ","spermatid development","chr15:28028747-28058026"]
["PBX1","Gain",4,7.081,5,"D38","intron 2 ","BP for TCF3-PBX1","none ",2,"none ","different (5' enhancer)","different ","yes ",3,"weak ","DNA binding, transcription factor binding and regulation \n","sex differentiation, adrenal gland development, ureteric bud morphogenesis, steroid biosynthetic process ","chr1:164693486-164700567"]
["PBX1","Gain",4,1.253,8,"D34, D42, D44, D48","intron 2 ","BP for TCF3-PBX1","none","1  (MIR SINE 3')","none","different ","different ","none ","none ","weak","DNA binding, transcription factor binding and regulation \n","sex differentiation, adrenal gland development, ureteric bud morphogenesis, steroid biosynthetic process ","chr1:164627057-164628310"]
["PCDH17","Loss",1,6.653,7,"D5, D9","intron 3","protocadherin-17, cytoplasmic","none ","none","none","similar ","different ","none ",1,"WRP","calcium ion binding","cell adhesion","chr13:58285139-58291792"]
["PCSK1","Loss",1,24.849,18,"D10","exons 1-3","neuroendocrine convertase 1, propep signal peptide","1 (5')",5,2,"similar (mC- ov tes)","different ","yes ",6,"RP, WRP","serine-type endopeptidase activity","cell-cell signaling, peptide hormone processing and synthesis, regulation of insulin secretion","chr5:95759422-95784271"]
["PDGFRA","Gain",3,18.745,61,"D17","exons 13-23","extracellular, PDGFRA, transmembrane cytoplasmic, multiple phosphoprotein, enzyme activity site","none ","2 (genic, exons 13-17)","none","mC+ @ enhancer exon 14, intron 17 in testis ","different ","yes ",5,"strong, weak","ATP binding, PDGFRA binding and activity, transmembrane kinase activity, VEGFRA binding and activity \n","estrogen metabolic process, Leydig cell differentiation, luteinization, development of adrenal gland and male genitalia, \nmetanephric glomerular capillary formation","chr4:55140651-55159396"]
["PDGFRA","Gain",3,18.881,66,"D18, D21","exons 13-23","extracellular, PDGFRA, transmembrane cytoplasmic, multiple phosphoprotein, enzyme activity site","none ","2 (genic, exons 13-17)","none","mC+ @ enhancer exon 14, intron 17 in testis ","different ","yes ",5,"strong, weak","ATP binding, PDGFRA binding and activity, transmembrane kinase activity, VEGFRA binding and activity \n","estrogen metabolic process, Leydig cell differentiation, luteinization, development of adrenal gland and male genitalia, \nmetanephric glomerular capillary formation","chr4:55140651-55159532"]
["PIP5K1B","Gain",4,1.665,3,"D15, D18","intron 7","PIPK","none ","none","none","similar","none (both)","none ","none ","none","kinase activity, ATP binding ","ND","chr9:71500686-71502351"]
["PIP5K1B","Gain",4,3.522,8,"D27","intron 9","PIPK","none ","none","none","similar","different","none ",1,"none","kinase activity, ATP binding ","ND","chr9:71515614-71519136"]
["PIP5K1B","Loss",1,4.136,5,"D46","exon 13","PIPK ","none ","none","none","similar","different","none ",2,"none","kinase activity, ATP binding ","ND","chr9:71536434-71540570"]
["PTCH1","Gain",3,14.621,34,"D4","intron 2 ","extracellular ","none",5,"none","mC++ ov","similar","yes ","multiple ","weak","cholesterol, cyclin, hedgehog protein, heparin binding \n","development of the ureteric bud, kidney; cholesterol metabolism, mammary gland differentiation","chr9:98250074-98264695"]
["PTCH1","Gain",3,16.368,40,"D7","intron 2 ","extracellular ","1 (5' shorter transcripts)",5,"none","mC+ ov (middle), mC- (aTSS)","similar ","yes ","multiple ","weak ","cholesterol, cyclin, hedgehog protein, heparin binding \n","development of the ureteric bud, kidney; cholesterol metabolism, mammary gland differentiation","chr9:98248327-98264695"]
["PTCH1","Gain",3,3.713,31,"D12","intron 2 ","extracellular ","none",1,1,"similar","different","yes ",2,"none","cholesterol, cyclin, hedgehog protein, heparin binding \n","development of the ureteric bud, kidney; cholesterol metabolism, mammary gland differentiation","chr9:98263869-98267582"]
["PTCH1","Gain",4,4.117,13,"D21","exons 11-12","SSD, cytoplasmic, extracellular, transmembrane helical ","none ","none ","none ","similar ","similar ","yes ",1,"strong ","cholesterol, cyclin, hedgehog protein, heparin binding \n","development of the ureteric bud, kidney; cholesterol metabolism, mammary gland differentiation","chr9:98235073-98239190"]
["PTCH1","Gain",4,4.047,19,"D21","exons 14-15","cytoplasmic, extracellular, transmembrane ","none ","1 (genic)","none ","similar ","similar ","yes ","none ","strong ","cholesterol, cyclin, hedgehog protein, heparin binding \n","development of the ureteric bud, kidney; cholesterol metabolism, mammary gland differentiation","chr9:98227599-98231646"]
["PTPN11","Gain",3,37.014,38,"D14, D15, D16, D18, D21","exons 11-16","none ","none ","none ","none","similar","similar ","none ",2,"strong, weak","insulin receptor binding, phosphoprotein phosphatase activity \n","genitalia development, negative regulation of cortisol and growth hormone secretion ","chr12:112921699-112958713"]
["RAF1","Gain",3,13.598,32,"D18","exons 3-6","protein kinase, ATP binding site, Int: PEPBP1/RKIP; multiple phospho tyrosine, serine, threonine","none ","1 (genic)","none ","similar ","similar ","yes ",5,"strong, weak ","ATP and metal ion binding; MAP kinase activity \n","insulin metabolism, signal transduction","chr3:12634913-12648511"]
["ROCK2","Loss",1,42.161,19,"D15","exons 31-33 (PQLC3)","PH, Zn finger","none ","2 (PQLC3)","2 (PQLC3)","similar 3' (mC- both PQLC3)","similar","yes ","none ","weak ","ATP, metal ion, poly(A) RNA binding, protein kinase activity ","cytoskeleton organization, cell adhesion, VEGFR signaling","chr2:11290865-11333026"]
["SHOX","Gain",4,41.547,10,"D12","exons 4-6","DNA binding, SH3 binding, OAR","4 (3' end of short long transcripts)","none ","none ","mC++ ov distal 3'), mC++ tes within ","different","yes ","2 (CGIs)","RP, WRP, heterochromatin","DNA binding","development of organs","chrX:599293-640840"]
["SHOX","Loss",1,41.663,81,"D46","exon 6","DNA binding, SH3 binding, OAR","1 (5' ), 3 orphan","none","none","similar ","different ","yes ","2 (CGIs)","heterochromatin, RP, WRP","DNA binding","development of organs","chrX:602793-644456"]
["SNRPN","Gain",3,14.752,17,"D21","intron 2","none ","none ","none ","none ","similar","similar","yes (tall wide peaks intron 2)","multiple","WRP","poly(A) RNA binding","mRNA splicing, response to hormone \n","chr15:25096419-25111171"]
["SNRPN","Gain",3,36.457,34,"D12","exon 3 (introns 2, 3)","none ","1 (orphan)","none ","1 (orphan CGI)","mC++ ov (CGI)","RS++ adult","yes (tall wide peaks intron 2)","multiple","WRP","poly(A) RNA binding","mRNA splicing, response to hormone \n","chr15:25096419-25132876"]
["SOX9","Loss",1,6,8,"D25, D46, D52","downstream ","none ","none",1,"none","mC++ testis (enh)","RS+ fetal","yes (1)",3,"weak","binding of chromatin, promoter, enhancer, trancription regulation","male germ-line sex determination, spermatogenesis, development of ureteric bud, prostatic bud, male gonad, Sertoli cell, kidney, ureter"]
["SOX9","Loss",1,1.6,17,"D38","downstream ","none ","none","none","none","similar ","RS+ fetal","none","none","WRP","binding of chromatin, promoter, enhancer, trancription regulation","male germ-line sex determination, spermatogenesis, development of ureteric bud, prostatic bud, male gonad, Sertoli cell, kidney, ureter"]
["SUPT3H ","Loss",0,9.773,8,"D38","intron 2 (RUNX2)","none ","none ","none ","none ","similar ","different ","yes ",1,"weak ","DNA binding, transcription coactivator activity","ND","chr6:45315806-45325579"]
["SUPT3H","Loss",1,9.989,16,"D48","intron 2 (RUNX2)","none ","none ","none ","none ","similar ","different ","yes ",1,"weak ","DNA binding, transcription coactivator activity","ND","chr6:45315806-45325795"]
["TGFB1","Gain",4,4.015,2,"D18, D21","exons 6-7","TGFB1",null,"none","none","mC+ @3' end in ovary","similar","yes ",2,"strong ","glycoprotein and enzyme binding, cytokine activity, TGFR binding and activity","mammary gland duct branching, female pregnancy, ureteric bud morphogenesis, response to estradiol and progesterone, germ cell migration","chr19:41834241-41838256"]
["TP63","Gain",4,4.56,12,"D27, D34, D43, D48","exons 5-7","DNA-binding, ion-binding","none","none","none","similar","different","none ","none ","none","chromatin and DNA binding, protein and metal ion binding, transcription regulation","cloacal septation, female genitalia morphogenesis, spermatogenesis, development of prostate gland acinus and urinary bladder","chr3:189581681-189586241"]
["TP63","Gain",3,11.795,28,"D41","exons 5-7","DNA-binding, ion-binding","none ","none ","none ","similar ","different ","yes ",1,"none ","chromatin and DNA binding, protein and metal ion binding, transcription regulation","cloacal septation, female genitalia morphogenesis, spermatogenesis, development of prostate gland acinus and urinary bladder","chr3:189574446-189586241"]
["TP63","Gain",4,1.352,8,"D42","exon 7","DNA-binding, ion-binding","none ","none ","none ","similar","similar","none ","none ","none ","chromatin and DNA binding, protein and metal ion binding, transcription regulation","cloacal septation, female genitalia morphogenesis, spermatogenesis, development of prostate gland acinus and urinary bladder","chr3:189584889-189586241"]
["TP63","Loss",1,10.208,12,"D2","exons 8-10","DNA-binding, Int: HIPK2, oligomerization","none ","none ","none ","similar","similar","yes ","none ","none ","chromatin and DNA binding, protein and metal ion binding, transcription regulation","cloacal septation, female genitalia morphogenesis, spermatogenesis, development of prostate gland acinus and urinary bladder","chr3:189585851-189596059"]
["VAMP7","Loss",1,1.493,5,"D36","intron 6","cytoplasmic, VAMP7, v-SNARE coiled coil homology","none","none","none","similar ","different ","none ","none ","weak","SNAP receptor activity; SNARE binding","organelle function and transport","chrX:155155132-155156625"]
["VAMP7","Loss",1,94.31,153,"D46","exons 6-8 (3')","cytoplasmic, VAMP7, v-SNARE coiled coil homology, phosphoserine, vesicular, signal peptide, extracellular, interleukin-9 receptor","none ","2 (distal 3')","none ","similar ","similar ","none ",2,"3' - strong, weak, Zn genes repeats, heterochromatin","SNAP receptor activity; SNARE binding","organelle function and transport","chrX:155139421-155233731"]
["WNT2","Loss",1,6,8,"D34","intron 3","WNT2 ","none ","none ","none ","similar ","different","none",2,"WRP","cytokine activity, frizzled binding, receptor agonist activity","development of mammary gland epithelium","chr7:116941235-116946799"]
["WWOX","Loss",1,8.076,23,"D22","intron 4","Int: MAPT","none","none ","none ","mC+ ov","RS++ adult","none ",1,"none ","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:78371497-78379573"]
["WWOX","Loss",0,8.165,24,"D29, D38, D39, D41, D43","intron 5","Int: MAPT","none","none","none","mC+ in ovary","RS++ adult","none ",1,"none","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:78371497-78379662"]
["WWOX","Loss",0,8.836,12,"D2, D8, D9, D10, D16, D20, D21","intron 5","Int: MAPT",null,"none","none","mC+ in ovary","RS++ adult","none ",1,"none","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:78372427-78381263"]
["WWOX","Loss",0,4.495,7,"D12","intron 5","Int: MAPT","none ","none ","none ","mC+ ov","different ","none ",1,"none","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:78372427-78376922"]
["WWOX","Loss",0,3.748,3,"D12","intron 5","Int: MAPT","none ","none ","none ","mC+ ov","different ","none ","none ","none","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:78377515-78381263"]
["WWOX","Loss",0,4.899,8,"D18","intron 5","Int: MAPT","none ","none ","none ","mC+ ov","different ","none ","none ","none","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:78376364-78381263"]
["WWOX","Loss",0,7.236,22,"D26, D32","intron 5","Int: MAPT","none ","none","none","mC+ in ovary","RS++ adult","none ",1,"none","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:78372426-78379662"]
["WWOX","Loss",1,6.976,19,"D42","intron 5","Int: MAPT","none ","none","none","mC+ in ovary","RS++ adult","none ",1,"none","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:78372597-78379573"]
["WWOX","Gain",3,52.788,56,"D17","intron 5","Int: MAPT","none ","2 (orphan)","none ","mC+ ov in 3'","different ","none ","multiple","weak ","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:78332720-78385508"]
["WWOX","Gain",3,36.886,35,"D21","intron 5","Int: MAPT","none","2 (orphan)","none","similar","different ","none ","multiple","none","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:78334722-78371608"]
["WWOX","Gain",3,12.391,22,"D33","intron 5","Int: MAPT","none","none","none ","similar","different ","none ","multiple","none ","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:78372597-78384988"]
["WWOX","Gain",3,12.128,21,"D45","intron 5","Int: MAPT","none","none","none ","similar","different ","none ",1,"none ","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:78372597-78384725"]
["WWOX","Loss",1,1.795,14,"D14","intron 8","Int: MAPT","none","none","none ","similar ","RS++ adult","none ",1,"none ","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:79061361-79063156"]
["WWOX","Gain",3,14.11,20,"D18","intron 8","Int: MAPT","none ","multiple ","2 (orphan)","different ","RS++ adult","none ",2,"weak ","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:78902729-78916839"]
["WWOX","Gain",4,4.643,7,"D2","intron 8","Int: MAPT","none ",8,"none ","mC+ tes (5 enh)","RS++ adult","none ",2,"weak ","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:79109841-79114484"]
["WWOX","Loss",1,148.179,208,"D45","exon 9","Int: MAPT","none ","multiple ","2 (3', orphan)","different ","RS++ adult","none ","multiple ","weak ","coenzyme, cofactor, enzyme binding, oxidoreductase activity, transcription","steroid metabolism, Wnt signaling","chr16:79143641-79291820"]
["ahighlighted ID# recurrent CNVs in 2 patients "]
["bgene in a parenthesis - another gene included in the CNV"]
["cCGI - CpG island"]
["dmC - methyl-C profile for DNA (CGI methylation) - mC+ (present)"]
["eRNA-seq - RS++ (higher), RS+ (present), RS- (absent) predicted RNA expression "]
["fentry in parenthesis - number or location of peaks"]
["gChromHMM - ChIP Seq data for predicting chromatin states (strong or weak transcription; WRP/RP, weak/repressed polycomb)"]
["hND - no data in UniProt database for development of reproductive and urogenital structures"]