Human annotation installed"
else
@echo ""
@echo "Flag for custom annotationDir; skipping local install of human annotations"
@echo ""
endif
# For PREFIX==.
install-exomiser-1: $(if $(USEANNODIR),,2406_phenotype.zip)
@echo ""
@echo "Installation of Exomiser data:"
@echo ""
ifndef USEANNODIR
$(MKDIR) -p $(DESTDIR)$(SHAREDIR)/$(ANNOTSV)/Annotations_Exomiser/2406
unzip 2406_phenotype.zip -d $(DESTDIR)$(SHAREDIR)/$(ANNOTSV)/Annotations_Exomiser/2406/
$(RM) -rf 2406_phenotype.zip
else
@echo ""
@echo "Flag for custom annotationDir; skipped Exomiser phenotypes local installation"
@echo ""
endif
$(MKDIR) -p $(DESTDIR)$(JARDIR)
ifndef EXRP_FILE
curl -C - -LO https://github.com/exomiser/Exomiser/releases/download/14.1.0/exomiser-rest-prioritiser-14.1.0.jar
install -p -m 0755 exomiser-rest-prioritiser-14.1.0.jar $(DESTDIR)$(JARDIR)/
$(RM) exomiser-rest-prioritiser-14.1.0.jar
else
@echo "Custom rest-priotiser path provided; creating symlink"
ln -sf $(EXRP_FILE) $(DESTDIR)$(JARDIR)/$(notdir $(EXRP_FILE))
endif
# For PREFIX!=.
install-exomiser-2:
install -D -p -m 0755 $(PROPERTIES) $(DESTDIR)$(ETCDIR)/$(ANNOTSV)
# For PREFIX==.
install-exomiser-3:
@echo ""
@echo "--> Exomiser data installed"
install-mouse-annotation: $(if $(USEANNODIR),,Annotations_Mouse_$(MOUSEVERSION).tar.gz)
ifndef USEANNODIR
@echo ""
@echo "Installation of mouse annotation:"
@echo ""
$(MKDIR) $(DESTDIR)$(SHAREDIR)/$(ANNOTSV)/
tar -xf Annotations_Mouse_$(MOUSEVERSION).tar.gz -C $(DESTDIR)$(SHAREDIR)/$(ANNOTSV)/
$(RM) -rf Annotations_Mouse_$(MOUSEVERSION).tar.gz
@echo ""
@echo "--> Mouse annotation installed"
else
@echo ""
@echo "Flag for custom annotationDir; skipping local install of mouse annotations"
@echo ""
endif
Annotations_%.tar.gz:
@echo ""
@echo "Download AnnotSV supporting data files:"
@echo ""
curl -C - -LO https://www.lbgi.fr/~geoffroy/Annotations/$@
%_phenotype.zip:
@echo ""
@echo "Download Exomiser supporting data files:"
@echo ""
curl -C - -LO https://data.monarchinitiative.org/exomiser/data/$@
# make uninstall
.PHONY: uninstall
ifeq ('$(PREFIX)' , '/usr/local')
uninstall: uninstall1 uninstall4
else ifeq ('$(INSTALLDIR1)' , '$(INSTALLDIR2)')
uninstall: uninstall1 uninstall2 uninstall4
else
uninstall: uninstall1 uninstall2 uninstall3 uninstall4
endif
uninstall1:
@echo ""
@echo "Uninstalling of $(ANNOTSV)"
@echo "------------------------"
$(RM) -f $(DESTDIR)$(BINDIR)/$(ANNOTSV)
$(RM) -f $(DESTDIR)$(BINDIR)/INSTALL_annotations.sh
$(RM) -f $(DESTDIR)$(BINDIR)/INSTALL_code.sh
$(RM) -rf $(DESTDIR)$(TCLDIR)/$(ANNOTSV)
$(RM) -rf $(DESTDIR)$(PYTHONDIR)/$(ANNOTSV)
$(RM) -rf $(DESTDIR)$(PYTHONDIR)/variantconvert
$(RM) -rf $(DESTDIR)$(DOCDIR)/$(ANNOTSV)
$(RM) -rf $(DESTDIR)$(SHAREDIR)/$(ANNOTSV)
$(RM) -rf $(DESTDIR)$(BASHDIR)/$(ANNOTSV)
$(RM) -rf $(DESTDIR)$(ETCDIR)/$(ANNOTSV)
$(RM) -rf $(DESTDIR)$(TESTSDIR)/$(ANNOTSV)
$(RM) -rf $(DESTDIR)$(PREFIX)/Makefile
$(RM) -rf $(DESTDIR)$(PREFIX)/README.md
$(RM) -rf $(DESTDIR)$(PREFIX)/Scoring_Criteria_AnnotSV_*.xlsx
$(RM) -rf $(DESTDIR)$(PREFIX)/.git
$(RM) -rf $(DESTDIR)$(PREFIX)/.gitignore
$(RM) -rf $(DESTDIR)$(PREFIX)/tmp.variantconvert.txt
uninstall2:
$(RMDIR) --ignore-fail-on-non-empty $(DESTDIR)$(BINDIR) $(DESTDIR)$(BASHDIR) $(DESTDIR)$(TCLDIR) $(DESTDIR)$(PYTHONDIR) $(DESTDIR)$(DOCDIR) $(DESTDIR)$(SHAREDIR) $(DESTDIR)$(ETCDIR) $(DESTDIR)$(TESTSDIR)
uninstall3:
$(RMDIR) --ignore-fail-on-non-empty $(DESTDIR)$(PREFIX)
uninstall4:
@echo ""
@echo "Done"
================================================
FILE: README.md
================================================
An integrated tool for Structural Variations annotation and ranking
# Table of contents
- ## AnnotSV Annotations Engine
- ### [README](README.AnnotSV_3.5.7.pdf)
- ### [Getting Started](share/doc/AnnotSV/quickstart.md)
- ### [Ranking](share/doc/AnnotSV/ranking.md)
- ### [Annotations](share/doc/AnnotSV/annotations.md)
- ## AnnotSV Webserver
- ### [Overview](share/doc/AnnotSV/webserver_overview.md)
- ## AnnotSV issues
Please detail your request when reporting a bug:
- Give the version of AnnotSV and the command line used
- Add/join an input file that allow to reproduce the bug
- Give all the information that could have an impact on the bug reported (modifications made in the installation or in the annotation files)
- Specify if you use Singularity...
# Collaborative work
Anyone interested in implementing new annotations/features in AnnotSV?
Thanks to the [AnnotSV user community](https://lbgi.fr/AnnotSV/acknowledgments):
- Bugs could be tackled efficiently
- New ideas could be investigated faster
We look forward to the opportunity to work together, feel free to fork the page if you want to help :-)
================================================
FILE: bin/AnnotSV
================================================
#!/usr/bin/env tclsh
############################################################################################################
# AnnotSV 3.5.8 #
# #
# AnnotSV: An integrated tool for Structural Variations annotation and ranking #
# #
# Copyright (C) 2017-present Veronique Geoffroy (veronique.geoffroy@inserm.fr) #
# #
# This is part of AnnotSV source code. #
# #
# This program is free software; you can redistribute it and/or #
# modify it under the terms of the GNU General Public License #
# as published by the Free Software Foundation; either version 3 #
# of the License, or (at your option) any later version. #
# #
# This program is distributed in the hope that it will be useful, #
# but WITHOUT ANY WARRANTY; without even the implied warranty of #
# MERCHANTABILITY or FITNESS FOR A PARTICULAR PURPOSE. See the #
# GNU General Public License for more details. #
# #
# You should have received a copy of the GNU General Public License #
# along with this program; If not, see . #
############################################################################################################
# non-zero exit codes --> usually interpreted as error cases
# zero exit code --> Terminate the process without error
# exit <=> exit 0 (default)
global g_AnnotSV
proc getScriptDirectory {} {
set scriptFilePath [file normalize [info script]]
set scriptDir [file dirname $scriptFilePath]
return $scriptDir
}
#if {[info exists env(ANNOTSV)]} {
# regsub "/$" $env(ANNOTSV) "" env(ANNOTSV)
#}
#set ANNOTSVinstallDir [file normalize "$env(ANNOTSV)"]
# Setting of g_AnnotSV(installDir), g_AnnotSV(etcDir), g_AnnotSV(docDir), g_AnnotSV(tclDir) and g_AnnotSV(bashDir):
set binDirFromScript [getScriptDirectory]
regsub "/bin$" $binDirFromScript "" binDirFromScript
set g_AnnotSV(installDir) "$binDirFromScript"
set g_AnnotSV(etcDir) "$g_AnnotSV(installDir)/etc/AnnotSV"
set g_AnnotSV(docDir) "$g_AnnotSV(installDir)/share/doc/AnnotSV"
set tclVersion [info tclversion]
set g_AnnotSV(tclDir) "$g_AnnotSV(installDir)/share/tcl${tclVersion}/AnnotSV"
if {![file exists $g_AnnotSV(tclDir)]} {
set g_AnnotSV(tclDir) "$g_AnnotSV(installDir)/share/tcl/AnnotSV"
}
set g_AnnotSV(bashDir) "$g_AnnotSV(installDir)/share/bash/AnnotSV"
# g_AnnotSV(annotationsDir) is set to "$g_AnnotSV(installDir)/share/AnnotSV" in AnnotSV-config.tcl
# Setting of "auto_path" for the use of the Tcl packages added in AnnotSV
set auto_path [linsert $::auto_path 0 $g_AnnotSV(tclDir)/tcllib]
source $g_AnnotSV(tclDir)/AnnotSV-benignsv.tcl
source $g_AnnotSV(tclDir)/AnnotSV-candidategenes.tcl
source $g_AnnotSV(tclDir)/AnnotSV-clingen.tcl
source $g_AnnotSV(tclDir)/AnnotSV-closestgenes.tcl
source $g_AnnotSV(tclDir)/AnnotSV-config.tcl
source $g_AnnotSV(tclDir)/AnnotSV-cosmic.tcl
source $g_AnnotSV(tclDir)/AnnotSV-cytoband.tcl
source $g_AnnotSV(tclDir)/AnnotSV-encodeblacklist.tcl
source $g_AnnotSV(tclDir)/AnnotSV-exac.tcl
source $g_AnnotSV(tclDir)/AnnotSV-exomiser.tcl
source $g_AnnotSV(tclDir)/AnnotSV-extann.tcl
source $g_AnnotSV(tclDir)/AnnotSV-filteredVCF.tcl
source $g_AnnotSV(tclDir)/AnnotSV-gap.tcl
source $g_AnnotSV(tclDir)/AnnotSV-gccontent.tcl
source $g_AnnotSV(tclDir)/AnnotSV-gencc.tcl
source $g_AnnotSV(tclDir)/AnnotSV-general.tcl
source $g_AnnotSV(tclDir)/AnnotSV-genes.tcl
source $g_AnnotSV(tclDir)/AnnotSV-haploinsufficiency.tcl
source $g_AnnotSV(tclDir)/AnnotSV-help.tcl
source $g_AnnotSV(tclDir)/AnnotSV-loeuf-pLI.tcl
source $g_AnnotSV(tclDir)/AnnotSV-ncbi.tcl
source $g_AnnotSV(tclDir)/AnnotSV-omim.tcl
source $g_AnnotSV(tclDir)/AnnotSV-pathogenicsv.tcl
source $g_AnnotSV(tclDir)/AnnotSV-pathogenicsnvindel.tcl
source $g_AnnotSV(tclDir)/AnnotSV-phenogenius.tcl
source $g_AnnotSV(tclDir)/AnnotSV-regulatoryelements.tcl
source $g_AnnotSV(tclDir)/AnnotSV-ranking.tcl
source $g_AnnotSV(tclDir)/AnnotSV-repeat.tcl
source $g_AnnotSV(tclDir)/AnnotSV-segdup.tcl
source $g_AnnotSV(tclDir)/AnnotSV-tad.tcl
source $g_AnnotSV(tclDir)/AnnotSV-userBED.tcl
source $g_AnnotSV(tclDir)/AnnotSV-variantconvert.tcl
source $g_AnnotSV(tclDir)/AnnotSV-vcf.tcl
source $g_AnnotSV(tclDir)/AnnotSV-write.tcl
# Setting of g_AnnotSV(Version):
if {![info exists g_AnnotSV(Version)]} {
set configFile "$g_AnnotSV(tclDir)/AnnotSV-config.tcl"
foreach L [LinesFromFile $configFile] {
if {[regexp "^# AnnotSV (\[0-9\]+.\[0-9\]+(.\[0-9\]+)?)" $L match version]} {
set g_AnnotSV(Version) "$version"
break
}
}
}
if {![info exists g_AnnotSV(Version)]} {
set g_AnnotSV(Version) "X.X"
}
puts "AnnotSV $g_AnnotSV(Version)"
if {[regexp "\-version|\-Version" $argv]} {
exit
}
puts ""
puts "Copyright (C) 2017-current GEOFFROY Veronique"
puts ""
puts "Please feel free to create a Github issue for any suggestions or bug reports (https://github.com/lgmgeo/AnnotSV/issues)"
puts ""
puts "Tcl/Tk version: $tclVersion"
puts ""
puts "Application name used:"
puts "$g_AnnotSV(installDir)\n\n"
set tclVersion [split $tclVersion "."]
if {[lindex $tclVersion 0] < 8 || ([lindex $tclVersion 0] eq 8 && [lindex $tclVersion 1] < 5)} {
puts "AnnotSV requires a release of the Tcl distribution starting with version 8.5."
puts "(AnnotSV has not been tested with lower version)"
}
## No argument given:
if {$argv == ""} {
puts "Arguments are missing see help below\n"
showHelp; exit 0
}
## Needing help?
if {[regexp -nocase "help" $argv]} {showHelp; exit 0}
## Downloading configuration:
configureAnnotSV $argv
## Depending of the VCF or BED input format:
if {[regexp -nocase "\\.vcf(.gz)?$" $g_AnnotSV(SVinputFile)]} {
## SVinputfile is a VCF?
## -> need to be formated in bed
set g_AnnotSV(bedFile) [VCFsToBED "$g_AnnotSV(SVinputFile)"]
} else {
## SVinputfile is a BED
set g_AnnotSV(bedFile) $g_AnnotSV(SVinputFile)
regsub -nocase ".bed$" $g_AnnotSV(bedFile) ".header.tsv" BEDinputHeaderFile
if {"$g_AnnotSV(bedFile)" ne "$BEDinputHeaderFile"} {file delete -force $BEDinputHeaderFile}
createBEDinputHeaderFile
addNAinSamplesIDbedCol
}
## Check VariantConvert configuration:
######################################
checkVariantconvertConfigfile
## Genes annotations:
#####################
puts "...checking the annotation data sources ([clock format [clock seconds] -format "%B %d %Y - %H:%M"])"
# Annotation of genes depending of the transcripts (RefSeq or ENSEMBL) ?
if {$g_AnnotSV(tx) eq "RefSeq"} {
checkGenesRefSeqFile
} else {
checkGenesENSEMBLfile
}
# Annotation with GenCC?
checkGenCCgeneFile
# Annotation with OMIM?
checkNCBIandHGNC
memorizeGeneNameAlias
checkOMIMfile
checkMorbidfile
# Annotation with HI (Haploinsufficiency)?
checkHIfile
# Annotation with ClinGen?
checkClinGenFile
# Annotation with Exomiser?
# checkNCBI (done with OMIM)
checkExomiserInstallation
# Annotation with PhenoGenius?
checkPhenoGeniusCli
# Annotation with LOEUF
checkLOEUFfile
## SVincludedInFt:
##################
# Annotations with benign genes or genomic regions?
checkBenignFiles
checkOverlappedGenesBenignFiles
# Annotation with GeneIntolerance (ExAC)?
checkGeneIntoleranceFile
checkCNVintoleranceFile
## Breakpoint annotations:
##########################
# Annotation with GC content?
checkFASTAfiles
# Annotation with Repeat?
checkRepeatFile
# Annotation with Segmental Duplication?
checkSegDupFile
# Annotation with Gap?
checkGapFile
# Annotation with ENCODE blacklist?
checkENCODEblacklistFile
# Cytoband
checkCytoband
## FtIncludedInSV annotations:
##############################
# Annotations with pathogenic genes or genomic regions?
checkPathogenicFiles
# Annotations with pathogenic SNV/indel?
checkPathoSNVindelFile
# Annotation with Regulatory Elements?
checkPromoterFile
checkEAfiles
checkGHfiles
checkMiRTargetLinkFiles
checkABCfiles
checkMPRAfiles
# Annotation with TAD?
checkTADfiles
# Annotation with COSMIC?
checkCOSMICfile
# Users BED regions annotations files:
# (from $ANNOTSV/share/AnnotSV/Annotations_$g_AnnotSV(organism)/Users/GRCh*/*ncludedIn*/*.bed)
##############################################################################################
checkUsersBED
# Users Gene-based annotation files:
# (from $ANNOTSV/Annotations_$g_AnnotSV(organism)/*/ and from user command lines "-externalGeneFiles")
######################################################################################################
# g_AnnotSV(extann) has been initialized in AnnotSV-config.tcl
# g_AnnotSV(extann) will be completed in AnnotSV-exomiser.tcl
set geneBasedDir "$g_AnnotSV(annotationsDir)/Annotations_$g_AnnotSV(organism)/Gene-based"
foreach annotFile [glob -nocomplain $geneBasedDir/*/*.tsv] {
if {[regexp "_DGV_samplesInStudies.tsv$" $annotFile]} {continue}
lappend g_AnnotSV(extann) $annotFile
}
foreach annotFile [glob -nocomplain $geneBasedDir/*/*.tsv.gz] {
lappend g_AnnotSV(extann) $annotFile
}
set userDir "$g_AnnotSV(annotationsDir)/Annotations_$g_AnnotSV(organism)/Users/"
foreach annotFile [glob -nocomplain $userDir/*.tsv] {
lappend g_AnnotSV(extann) $annotFile
}
foreach annotFile [glob -nocomplain $userDir/*.tsv.gz] {
lappend g_AnnotSV(extann) $annotFile
}
foreach annotFile $g_AnnotSV(externalGeneFiles) {
lappend g_AnnotSV(extann) $annotFile
}
# Depending of the organism, genes based annotation can be absent:
if {$g_AnnotSV(extann) eq ""} {set g_AnnotSV(geneBasedAnn) 0} else {set g_AnnotSV(geneBasedAnn) 1}
# DISPLAY
puts ""
puts "...listing arguments"
puts "\t******************************************"
puts "\tAnnotSV has been run with these arguments:"
puts "\t******************************************"
set lKey [array names g_AnnotSV]
foreach key [lsort $lKey] {
if {[regexp "ABCann|GHann|MPRAann|EAann|Ann|bashDir|bedFile|docDir|etcDir|extann|installDir|outputColHeader|ranking|genes|samplesidTSVcol|svtTSVcol|tclDir|userDir|Version$" $key]} {continue}
if {$g_AnnotSV($key) eq ""} {continue}
puts "\t-$key $g_AnnotSV($key)"
}
puts "\t******************************************\n"
# Annotation with the gene track
genesAnnotation
OrganizeAnnotation
if {[regexp "\\.bed$" $g_AnnotSV(SVinputFile)]} {
file delete -force $BEDinputHeaderFile
}
puts "\n...AnnotSV is done with the analysis ([clock format [clock seconds] -format "%B %d %Y - %H:%M"])"
================================================
FILE: bin/INSTALL_annotations.sh
================================================
#!/bin/bash
############################################################
# Installing AnnotSV human annotations in a local directory
############################################################
# USAGE:
########
# INSTALL_annotations.sh "Version of AnnotSV human annotation" "Version of Exomiser phenotype annotations"
# AIM:
######
# Download Exomiser and AnnotSV annotations to be used with the "-annotationsDir" option
# CONTEXT:
##########
# To work with bioconda/docker/singularity, AnnotSV couldn't contain the annotations in the recipe (that would make the recipe very large, which is a bad practice in bioconda)
# Users need to download the annotation files once and pass the directory to AnnotSV at runtime with the "-annotationsDir" option.
mkdir AnnotSV_annotations
cd AnnotSV_annotations
# AnnotSV annotations
echo ""
echo "Download AnnotSV supporting data files:"
echo ""
curl -C - -LO https://www.lbgi.fr/~geoffroy/Annotations/Annotations_Human_$1.tar.gz
tar -xf Annotations_Human_$1.tar.gz -C ./
rm -rf Annotations_Human_$1.tar.gz
# Exomiser
echo ""
echo "Download Exomiser supporting data files:"
echo ""
curl -C - -LO https://data.monarchinitiative.org/exomiser/data/$2_phenotype.zip
unzip $2_phenotype.zip -d Annotations_Exomiser/$2/
rm -rf 2406_phenotype.zip
chmod -R 777 ./Annotations_*
================================================
FILE: changeLog.txt
================================================
############################################################################################################
# AnnotSV 3.5.8 #
# #
# An integrated tool for Structural Variations annotation #
# #
# Copyright (C) 2017-present Veronique Geoffroy (veronique.geoffroy@inserm.fr) #
# #
############################################################################################################
For more details, please see the README file.
April, 16, 2026 AnnotSV version 3.5.8
- Add a fix for the install (issue 328)
April, 14, 2026 AnnotSV version 3.5.7
- Add a new annotation mode: BNDproximity
This mode allows matching SV with user-provided BED features based on breakpoint proximity rather than interval overlap.
A feature is reported when both its start and end coordinates are within a user-defined distance of the SV breakpoints.
=> A new parameter is available: -breakpointProximity (default: 100 bp)
- Improve the rules for determining the frameshift status
April, 02, 2026 AnnotSV version 3.5.6
- Allow to customize the weights of AnnotSV ranking criteria in the configfile
- Add of the "bracketedAltMode" option
Defines how bracketed ALT values in VCF are interpreted:
The SV can be considered as DEL, DUP, INS or INV, or considered as BND (TRA is always reported as BND)
Values: ALL (default, infer all bracketed ALT as DEL, DUP, INS or INV)
BND (treat all bracketed ALT as BND)
comma-separated SVTYPE values among DEL, DUP, INS or INV (infer only selected SVTYPE; e.g.: "DEL,DUP". Others are treated as BND)
- Add of the "bracketedAltMaxSize" option
Define a maximum SV length (Mb) for SVTYPE inference from bracketed ALT values. Above 10 Mb (default), bracketed ALT is treated as BND.
- Return 2 unique AnnotSV_Ids for two insertions located at the same position but with different inserted sequences (issue 324)
- Add bugfix for the interpretation of square-bracketed DUP fields in the VCF (those containing the start of the duplicated sequence)
- Add bugfix in the Makefile for bioconda (issue 307#issuecomment-4054614762)
March, 03, 2026 AnnotSV version 3.5.5
- Improvements of the Makefile (by @drew-sinha)
add flag for annotation file download, expose path to rest-prioritiser
Annotations installion script no longer relies on AnnotSV make/install
application.properties now has version filled in programmatically
Non-destructive install; fix git install to allow repeats (still doesn't install for system apk builds)
February, 27, 2026 AnnotSV version 3.5.4
- Improvements of the Makefile (by Bradford Powell @bpow-patch)
Update install-exomiser-2 command in Makefile to support PREFIX
September, 12, 2025, AnnotSV version 3.5.3
- Improvments of the INSTALL_annotations.sh file to be version-controlled (issue 296)
August, 29, 2025, AnnotSV version 3.5.2
- Improvements in the GeneHancer section (several sources authorized for the downloaded files)
- Improvements in the tests section (test_37_SVLEN) + Makefile
August, 21, 2025, AnnotSV version 3.5.1
- Add bugfix concerning the SV_length (issue 295)
- Update the exomiser application.properties file
- Update the variantconvert install
- Update the Copyright output
July, 17, 2025, AnnotSV version 3.5
- Add the T2T-CHM13v2.0 human annotations
- Update GRCh38 and GRCh37 human annotations
- Update the Exomiser install
- Add bugfix concerning the AnnotSV_ranking_criteria
- Add bugfix concerning the naming of temporary files. Add the pid in the file names
- Add bugfix concerning the boundary mismatch for ACMG scores
- Improvements in the tests section
- Add the PacBio-CoLoRS Benign SV annotations (Long Read Sequencing Database, GRCh38, CHM13)
- Return 2 unique AnnotSV_Ids for two translocations starting at the same position but ending at a different position
March, 06, 2025, AnnotSV version 3.4.6
- Update the PhenoGenius install (Use of the client repo https://github.com/kyauy/PhenoGeniusCli: v.1.1.3) (issue 274)
February, 27, 2025, AnnotSV version 3.4.5
- Update the PhenoGenius install (Use of the client repo https://github.com/kyauy/PhenoGeniusCli: v.1.1.2)
- Add the "-missingGTinSamplesid" option (to report or not sample IDs with missing alleles in the GT field (./. or .|.) in the "Samples_ID" output field)
- Fix a bug to set start position when converting from 0-based to 1-based format in some rare special cases (issue 266)
- Fix a bug concerning Mouse annotations (issue 257)
September, 05, 2024, AnnotSV version 3.4.4
- Temporary fix for issues #239 and #250 (wrong PRDM10 line in the GenCC file)
=> Code to be removed after updating annotations
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)
- Fix a bug in the AnnotSV_ID setting when POS (e.g. 1) is contained in CHROM (e.g. 1)
May, 14, 2024, AnnotSV version 3.4.2
- Fix a bug when setting the cytoband annotation for large SV (issue 234)
- Update the mm39 repeat annotations (issue 225)
May, 03, 2024, AnnotSV version 3.4.1
- Update of the variantconvert distribution (2.0.1 installed)
Add of the "-variantconvertMode" option (to choose the variantconvert conversion mode)
- Mouse annotation update (Add GRCm39/mm39 annotations)
- Remove typos in the ranking explanation
- Check the user bedtools version
- Restricts the number of RE_gene features to 50, RE with "PhenoGenius specificity = "A" or Exomiser gene score > 0.7" are displayed first.
- Integrate all the gene symbols for OMIM morbid annotations
- Improve the creation of the benign dataset (gnomAD, 1000g and HPRC)
- Add log files for the PhenoGenius install
February, 16, 2024, AnnotSV version 3.4
- Human annotation update
- Add new regulatory elements annotations:
- Activity-by-Contact (ABC) model annotations (doi: 10.1038/s41586-021-03446-x)
- Massively Parallel Reporter assays (MPRA) annotations (doi: 10.1038/s41467-019-11526-w)
- Add novel benign SV annotation sources:
- from gnomad v4 (GRCh38) (issue 201)
- from the Human Pangenome Reference Consortium (HPRC) dataset (PACBIO long reads, GRCh38 only) (issue 202)
- from dbVar (NCBI’s database of genomic structural variation)
- Add new phenotype prioritization method: PhenoGenius (Yauy et al., 2023, doi: 10.1101/2022.07.29.22278181)
- Add 3 new features: PhenoGenius_score, PhenoGenius_phenotype and PhenoGenius_specificity
- Add 4 new features:
- Closest_left and Closest_right
AnnotSV expands the SV up to 5 megabases in both direction (left and right) and then tries to find neighboring genes
In both directions, the closest gene to the SV is reported
- NCBI_gene_ID
- Tx_version (transcript version)
- Gene names are now sorted by genomic coordinates and no longer sorted alphabetically ("Gene_name" feature)
- Fix a bug when setting the cytoband annotation (issue 210)
- Fix misleading OMIM annotation (issues 156, 132)
- Update of the Makefile
- Update of the "contact" recommendations in output (from email to GitHub)
- Reorganization of the GitHub .md files
January, 15, 2024, AnnotSV version 3.3.9
- Fix a bug when setting the "hpoVersion" variable (issue 207)
December, 22, 2023, AnnotSV version 3.3.8
- Add of 34 unit tests
November, 03, 2023, AnnotSV version 3.3.7
- Fix a domain error (issue 199)
- Include code to allow FranceGenRef benign SV annotation (856 WGS with ancestries in different regions of France)
WARNING: not supplied as part of the AnnotSV sources.
- Optimize access to the exomiser application properties file for use with singularity/bioconda
- Allow uppercase file extensions (".VCF", ".BED" or ".VCF.GZ")
- Use the new format of the COSMIC data source
- Update of the documentation in $ANNOTSV/docs/
- Update of the documentation to install AnnotSV human annotations in a local directory (INSTALL_annotations.sh)
- Optimize a regexp
- Fix variantconvert file name
June, 01, 2023, AnnotSV version 3.3.6
- Add bug fix concerning some INV bracketed. The second breakend notation (which is just the reciprocal of the first) is now always identified as the mate breakend.
- Sample IDs with missing alleles in the GT fields ("./." or ".|.") are now reported in the "Samples_ID" output field
- Refactor variantconvert code
- Allow description of REF/ALT values in SV input files with lowercase ACGT
- Update of the .gitignore file
- Add bug fix to report only a subset of the annotation columns provided by AnnotSV
- Add of warning messages for the ranking (in case of missing required annotations)
- Update the display of the default command line
April, 14, 2023, AnnotSV version 3.3.5
- Add documentation on the "-includeCI" option
- Add bugfix for variantconvert use in GRCh38 (when setting the REF in the VCF output file)
- Add bugfix during the install (depending on the environment)
April, 07, 2023, AnnotSV version 3.3.4
- Among the “po_P_*_*” features, redundancy is now removed ONLY from “po_P_*_phen” and “po_P_*_hpo”.
=> AnnotSV keeps now the correspondence between “po_P_*_source”, “po_P_*_coord” and “po_P_*_percent” features.
- Improvment of the running time (code part: SV partially overlapping with an established benign region)
- Update of the Makefile (variantconvert install)
- Remove requirement for ANNOTSV environment variable
- Add of the "INSTALL_code.sh" and "INSTALL_annotations.sh" bash files (for a basic manual installation)
- Add a check of the "#CHROM" header line
- Add of the "-variantconvertDir" option (path of the variantconvert directory). By default, the variantconvert tool distributed by annotSV is used.
March, 30, 2023, AnnotSV version 3.3.3
- Add bugfix for large input file
March, 28, 2023, AnnotSV version 3.3.2
- Add bugfix for SV partially overlapping with an established benign region. Ranking Impact
- Improve the 40 criteria (Loss) in the SV ranking
- Restrict the number of "po_B_*_someG_*" features to 20
March, 24, 2023, AnnotSV version 3.3.1
- Add bugfix with the use of the SVminSize option
- Report the minimal LOEUF value (among those of all overlapped genes) in the SV full length annotation
- Update of the variantconvert distribution (1.2.2 installed)
March, 23, 2023, AnnotSV version 3.3
- Add bugfix regarding genomic start coordinates. TSV and VCF output files are now both 1-based, with inclusive-end (whatever the input file format)
- Add interpretation of the square-bracketed SV breakend notations within the VCF.
This new module relies on the homogenization rules provided within the variant-extractor tool developed by Rodrigo Martín.
- Update of the variantconvert distribution (1.2.1 installed)
- Automation of the variantconvert module installaton
- Reformat of the unannotated.tsv file
- Add of the .gitignore file
- VCF format handling update. According to the VCF 4.4 specification, the SVTYPE has now been deprecated (due to redundancy with ALT).
The SV type is now extracted primarily from the ALT column, then from the SVTYPE field in the INFO column if available.
- Add bugfix for the TAD annotations update process
January, 31, 2023, AnnotSV version 3.2.3
- Report of the "Samples_ID" column in ALL outputs (default, sample = NA) (required by variantconvert)
- Add the creation of a VCF output file from a "BED" SV input file. The "-vcf" and "-svtBEDcol" options are required.
- In VCF output, the GT is set to “1/.” for each SV if the GT is not given in input (BED input file)
- Add bugfix concerning Mouse annotation
January, 06, 2023, AnnotSV version 3.2.2
- Add bugfix concerning the use of variantconvert to create the VCF output file (GRCh37/GRCh38, configfiles)
December, 21, 2022, AnnotSV version 3.2.1
- Add bugfix concerning the partial overlap with some specific dbVar SV (same start and end locations)
December 13, 2022, AnnotSV version 3.2
- Add of a new output format: VCF
- Add partial overlap annotation:
- Add 4 benign gain SV annotation: po_B_gain_allG_source, po_B_gain_allG_coord, po_B_gain_someG_source, po_B_gain_someG_coord
- Add 4 benign loss SV annotation: po_B_loss_allG_source, po_B_loss_allG_coord, po_B_loss_someG_source, po_B_loss_someG_coord
- Add 5 pathogenic gain SV annotation: po_P_gain_phen, po_P_gain_hpo, po_P_gain_source, po_P_gain_coord, po_P_gain_percent
- Add 5 pathogenic loss SV annotation: po_P_loss_phen, po_P_loss_hpo, po_P_loss_source, po_P_loss_coord, po_P_loss_percen
- Add the 2B, 2G and 4O criteria (Loss) in the SV ranking
- Add the 2B, 2C, 2F, 2G and 4O criteria (Gain) in the SV ranking
- Update of the "make uninstall"
September 12, 2022, AnnotSV version 3.1.3
- Human annotation update
- Use of the new ClinGen data source format ("OMIM ID" no longer reported)
- Removing of the DDG2P gene annotations (to avoid redundancy with GenCC)
- Documentation update
July 10, 2022, AnnotSV version 3.1.2
- Add important bugfix concerning the GRCh38 coordinates of the morbid genes
- Add bugfix concerning some Overlapped_CDS_percent values
November 25, 2021, AnnotSV version 3.1.1
- Add bugfix when setting the ANNOTSV global environmental variable with a final "/"
- Documentation update
November 08, 2021, AnnotSV version 3.1
- Change the -genomeBuild default value to "GRCh38" (instead of GRCh37)
- Use boolean values (instead of "yes"/"no") for the following option values: -candidateGenesFiltering, -includeCI, -overwrite, -reciprocal, -REreport, -REselect1 and -REselect2
- Add the Children’s Mercy Research Institute Benign SV annotations (n=502 WGS)
- Add the GenCC database for Gene-Disease relationship annotations
- Add CytoBand annotation
- Add novel regulatory element annotation:
- Add miRNA annotation (from miRTargetLink)
- Complete the RE_gene column output (the regulated gene name is detailed with more information: candidate gene annotation
and data sources (RefSeq, ENSEMBL, EnhancerAtlas, GeneHancer and/or miRTargetLink))
- Add the "-REselect1" and "-REselect2" options to filter the RE_gene output
- Update the benign SV annotation method:
- Add the "-benignAF" option to change the allele frequency threshold used to select the benign SV in the data sources
- Add 4 annotation columns: B_gain_AFmax, B_loss_AFmax, B_ins_AFmax and B_inv_AFmax (maximum allele frequency of the reported benign genomic regions)
- Add new details in the"AnnotSV_ranking_criteria" output column: (i) detailed scoring points and (ii) remove gene names redundancy
- Add new warnings if the compound heterozygosity analysis is not processed
- Add the "-version" option
- Take into account of a new format in the downloaded OMIM data (approved gene symbol)
- Add bugfix in case of leading or trailing white space in SV type values from the SV input BED file
- Add bugfix in case of no external BED annotation files used
- External BED annotation files can now also be used to report any feature overlapped with the SV (even with 1bp overlap)
- Add bugfix concerning the use of the "-candidateGenesFiltering" option
- Include "NA" in the "-rankFiltering" default option (default = "1-5,NA")
- Add bugfix concerning the use of the "split" annotationMode
- Add bugfix in the SV input BED file, last column could not have empty values. Replaced with "." if empty
- Add bugfix in section 5 of the SV ranking
- Set the ACMG_class to "NA" if not defined
- Update/Add Mouse annotations (CytoBand, miRNA from miRTargetLink)
December 18, 2020, AnnotSV version 3.0
- Major code rewrite and annotations sources reorganization
- Significant modification of the annotations column names
- New SV ranking based on the ACMG guidelines (Riggs et al 2020) as a replacement of the previous ranking (v2.5).
- Add 3 annotation columns: AnnotSV ranking score; ranking decision criteria; AnnotSV ranking class
- Merge pathogenic SV annotation (from multiple sources)
- Pathogenic SV sources: dbVar, ClinGen, ClinVar, OMIM morbid genes
- Add 12 annotation columns:
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;
P_inv_phen; P_inv_hpo; P_inv_source; P_inv_coord
- Remove previous annotation columns from dbVar
- Merge benign SV annotation (from multiple sources)
- Benign SV sources: DGV, ClinVar, ClinGen, DDD, gnomAD, 1000g and IMH
- Add 8 annotation columns:
B_gain_source; B_gain_coord; B_loss_source; B_loss_coord;
B_ins_source; B_ins_coord; B_inv_source; B_inv_coord
- Remove previous annotation columns from DDD, DGV, gnomAD, 1000g and IMH
- Add pathogenic SNV/indel annotation (from ClinVar)
- Add new regulatory elements annotation (EnhancerAtlas)
- Merge regulatory elements annotations into a single column (RefSeq/ENSEMBL, EnhancerAtlas, GeneHancer)
- Update of the annotation data sources with the latest available versions
- The "overlap" option default is now set to 100 % in order to be compliant with the ACMG guidelines
- Add the percent of the CDS overlapped with the SV (in the "split" annotation lines)
- Add the number of overlapped genes in the "full" annotation lines
- By default, AnnotSV now expands the "start" and "end" SV positions with the VCF confidence intervals (CIPOS, CIEND) around the breakpoints (see the "includeCI" option)
November 06, 2020, AnnotSV version 2.5.2
- Add the pLI annotation from gnomAD (pLI_gnomAD), update the pLI annotation from ExAC (pLI_ExAC)
- Add the "LOEUF_bin" annotation (gnomAD)
- Add the "tx start", "tx end" and "Number of exons" annotations
The "tx length" column has been renamed "overlapped tx length"
The "CDS length" column has been renamed "overlapped CDS length"
- If not provided, the EXOMISER_GENE_PHENO_SCORE is set to "-1.0"
- Update README.md
October 13, 2020: AnnotSV version 2.5.1
- fix: Add bugfix when the "SV type" is badly formatted
October 12, 2020: AnnotSV version 2.5
- Add of the "ENCODE blacklist", "Segmental Duplication" and "Gap" annotation datasets
- Fix a critical bug for DGV annotation (GRCh38)
- Add the distance / type to the nearest splice site after considering both breakpoints (distNearestSS and nearestSStype columns)
- Add the in-frame / out-of-frame information from overlapping genes (frameshift column)
- Add decision criteria explaining the ranking (previously available as a separate file)
- Remove of the ranking decision output file (*.ranking.tsv)
- Change the names of the values for the "tx" option:
NM >> RefSeq
ENST >> ENSEMBL
- Add bugfix for exomiser use (don't use some badly formatted NCBI gene ID)
- Add bugfix allowing to use a configfile located in the same directory as the input file
July 30, 2020: AnnotSV version 2.4
- Update of the annotations sources (see the corresponding README section)
- Add of the COSMIC SV dataset (Cancer)
- AnnotSV now reports either RefSeq or Ensembl gene transcripts. Use the new "-tx" option to report either NM or ENST transcripts
=> The « NM » column has been renamed « tx »
=> The “RefGene” directory has been renamed "Genes"
- Add of the "Samples_ID" feature (report of the sample names for which the SV was called)
=> Can be disabled in the AnnotSV configfile
- Include the new "-externalGeneFiles" option to pass external gene file(s) path in the command line
- Integration of 4 Tcl packages (http/tar/csv/json) in the AnnotSV distribution
- Use of the “bcftools” toolset (Li, 2011) to fix a bug with multiallelic sites from VCF input file(s)
=> bcftools is now required if using VCF input file(s)
- Fix the output columns order not being the same depending on the system environment
- "1000g_AF" and "1000g_max_AF" features are not reported anymore
- Add bugfix concerning the CDS length and tx length calculation
- Add bugfix concerning annotation of 2 SV with the same coordinates but from different types (DEL, DUP...)
- Add bugfix with gzipped VCF files as input
- Add bugfix concerning the running of bash scripts (illegal use of | or |& in command)
- Add bugfix concerning the use of the "-snvIndelFiles" and "-candidateSnvIndelSamples" options
- Add bugfix to the Exomiser module
- Add bugfix concerning the AnnotSV installation when PREFIX is not the current directory
- Add bugfix concerning the use of a big "candidateGenesFile"
Dec 20, 2019: AnnotSV version 2.3
- Include phenotype-driven annotations (HPO), based on Exomiser (Smedley et al., 2015)
- Include the lift-over GRCh38 gnomAD SV frequency annotation
- Include the "-annotationsDir" option to pass the annotations directory to AnnotSV at run time
- New "AnnotSV ID" settings (to ensure unique SV identifiers)
- Deletion filtering improvement
- Integration of the gnomAD frequency data in the ranking
- AnnotSV can now create two other output files:
- A report of unannotated variants (e.g. badly formatted SV, variant length < SVminSize...)
- A report of the decisions that explain the ranking of each SV
- Change the names of the misleading following options:
vcfFiles >> snvIndelFiles
vcfPASS >> snvIndelPASS
vcfSamples >> snvIndelSamples
filteredVCFfiles >> candidateSnvIndelFiles
filteredVCFsamples >> candidateSnvIndelSamples
- Annotations are not distributed anymore with the sources but downloaded during the installation with the Makefile
- AnnotSV executable is now directly located in $ANNOTSV/bin to respect the FHS
- Add bugfix concerning the management of BED files
- Add bugfix for the report of the compound heterozygosity (1 SV + 1 SNV/indel)
- Add bugfix concerning the -candidateGenesFiltering option
- Add bugfix concerning the DGV metrics
- Add bugfix concerning the use of the "-sort" Linux command (whose behavior is OS dependant)
- Add bugfix concerning the use of "external gene annotation files"
- Add bugfix concerning the -txFile option
July 09, 2019: AnnotSV version 2.2
- AnnotSV follows now the Filesystem Hierarchy Standard (FHS). Installation can be easily done using a Makefile
- Include 2 new options: "-candidateGenesFiltering" to select the SV overlapping a gene from the "candidateGenesFile" (default = no)
"-rankFiltering" to select the SV of a user-defined specific class (from 1 to 5), default = "1-5"
- Users can now disable default annotation (through a configfile) provided by AnnotSV and only have user defined annotations
- AnnotSV is now available for the Mouse genome SV annotations
- Add the UTR/CDS's information from overlapping genes (location2 column)
- Add bugfix concerning the use of the "-candidateGenesFile" and "-reciprocal" options
- Add bugfix concerning the report of the SV length
- Add bugfix concerning the report of gene-based annotation on the full lines
Apr 18, 2019: AnnotSV version 2.1
- Include the gnomAD SV frequency annotation
- Include the Ira M. Hall’s lab SV frequency annotations
- Include GeneHancer annotation (an integrated compendium of human promoters, enhancers and their inferred target genes)
WARNING: not supplied as part of the AnnotSV sources. Users need to request the up-to-date GeneHancer data dedicated to AnnotSV
- Include 2 new options: "-overwrite" to overwrite existing output results (default = yes)
"-txFile" to specify a list of preferred genes transcripts to be used in priority during the annotation
- Default of the -SVinputInfo option is now set to 1 (the additional fields from the SV input file are reported in the outputfile)
- Large bed annotation files are presorted, in order to be compatible for server with low specifications
- Improve error messages and exit management (return a non-zero exit code in case of error or zero if all went fine)
- AnnotSV minimum requirement is now starting with Tcl 8.5
- Add bugfix concerning the homozygous and heterozygous SNV/indel counts within the SV to annotate
- Add bugfix for the SV ranking (when the -metrics option was set to "fr")
- Add bugfix concerning the "-reciprocal" option
Dec 21, 2018: AnnotSV version 2.0
- Add ranking/classification for SV in 5 classes (from benign to pathogenic)
- Include 12 additional annotations including:
-> the creation of a unique identifier for each SV
-> the SV length
-> the SV type (DEL, DUP, ...)
-> the SV ranking/classification
-> the OMIM morbid genes
-> the ClinGen Haploinsufficiency Score
-> the ClinGen Triplosensitivity Score
-> the ACMG genes
-> the CNV intolerance from ExAC
- Add of the "metrics" option to change numerical values to us or fr metrics (e.g. 0.2 or 0,2)
- Add bugfix concerning empty SV input file: return a non-zero exit status (1) to continue processing in a pipeline
- Modification of the directories structure for the annotation. Please look at the README file.
- Options: "SVfromDBoverlap", "FeaturesOverlap" and "SVtoAnnOverlap" have been replaced by "reciprocal" and "overlap"
- By default, AnnotSV now reports the additional fields from the SV BED input file
- Report of the input BED file header in the output
- Update of all annotation sources provided with AnnotSV
Sep 28, 2018: AnnotSV version 1.2
- Support the integration of user defined annotated regions imported from BED and/or TSV file(s) into the output file
- Include 3 additional annotations based on the dbVar pathogenic NR SV dataset:
-> The dbVar NR SV event types (e.g. deletion, duplication…)
-> The dbVar NR SV accession (e.g. nssv1415016)
-> The dbVar NR SV clinical assertion (e.g. pathogenic, likely pathogenic)
- Include 1 new option (-typeOfAnnotation) to configure the types of lines produced by AnnotSV (both, full or split)
- OutputFile extension will always be a “.tsv” (tab separated values) extension
- Add bugfix concerning large SV and TAD boundaries annotation
May 16, 2018: AnnotSV version 1.1.1
- Add bugfix concerning 1000g annotation (in some cases, an insertion could be not reported and AnnotSV stopped working properly)
Mar 20, 2018: AnnotSV version 1.1
- Add bugfix concerning counts of the homozygous and heterozygous variants in VCF files
- Support for new SV input file format: VCF file (4.3) can now be used to describe the SV to annotate (in addition to the BED format)
The "-bedFile" option has now been renamed "-SVinputFile"
The "-bedInfo" option has now been renamed "-SVinputInfo". Default is now set to 0 (the additional fields from the SV input file are not reported in the outputfile)
- Report additional information while counting variants in the SNV/indel input file(s):
-> The number of SNV/indel loaded
-> The number of SNV/indel not considered because of the “FILTER” column value
-> The number of SNV/indel not considered because of the absence of genotype information (“GT” value can be absent in bad VCF formatted files)
-> The number of SV present but not considered for that purpose (only SNV/indel are taken into account)
- Set the default value of the -vcfPASS option to 0 (to be non-restrictive and consider all variants in the VCF by default).
- Include 2 new options (-outputDir and -outputFile) to specify the output directory and file name
- Include 3 additional annotations based on the 1000 genomes phase 3 dataset:
-> The type of event (i.e. DEL, ALU, DUP, ...)
-> The global allele frequency
-> The maximum observed allele frequency across populations
- Include a new option (-SVminSize) to set the SV minimum size (in bp). Default is 50 (bp)
Dec 21, 2017: AnnotSV version 1.0
================================================
FILE: commandLineOptions.txt
================================================
COMMAND LINE USAGE
$ANNOTSV/bin/AnnotSV -SVinputFile 'Path of your VCF or BED input file with SV coordinates' >& AnnotSV.log &
OPTIONS
-annotationsDir: Path of the annotations directory
-annotationMode: Description of the types of lines produced by AnnotSV
Values: both (default), full or split
-bcftools: Path of the bcftools local installation
-bedtools: Path of the bedtools local installation
-benignAF: Allele frequency threshold to select the benign SV in the data sources
Range values: [0.001-0.1], default = 0.01 (i.e. 1%)
-bracketedAltMaxSize: Maximum SV length (Mb) for SVTYPE inference from bracketed ALT values
Values: positive float (default: 10; above 10 Mb, bracketed ALT is treated as BND)
-bracketedAltMode: Defines how bracketed ALT values in VCF are interpreted:
The SV can be considered as DEL, DUP, INS or INV, or considered as BND (TRA is always reported as BND)
Values: ALL (default, infer all compatible SVTYPE: DEL,DUP,INS,INV)
BND (treat all bracketed ALT as BND)
comma-separated SVTYPE values among DEL, DUP, INS or INV (infer only selected SVTYPE; e.g.: "DEL,DUP". Others are treated as BND)
-breakpointProximity: Maximum allowed distance (bp) between SV and feature breakpoints (start-to-start and end-to-end).
Values: positive int (default: 100)
-candidateGenesFile: Path of a file containing the candidate genes of the user (gene names can be space-separated, tabulation-separated, or line-break-separated)
-candidateGenesFiltering: To select only the SV annotations ("split" and "full") overlapping a gene from the "candidateGenesFile"
Values: 0 (default) or 1
-candidateSnvIndelFiles: Path of the filtered VCF input file(s) with SNV/indel coordinates for compound heterozygotes report (optional)
Gzipped VCF files are supported as well as regular expression
-candidateSnvIndelSamples: To specifiy the sample names from the VCF files defined with the -candidateSnvIndelFiles option (sample names can be coma-separated or semicolon -separated)
Default: use all samples from the filtered VCF files
-genomeBuild: Genome build used
Values: GRCh38 (default) or GRCh37 or CHM13 or or mm9 or mm10
-help: More information on the arguments
-hpo: HPO terms list describing the phenotype of the individual being investigated
Values: use comma, semicolon or space separated class values
Default = "" (e.g.: "HP:0001156,HP:0001363,HP:0011304")
-includeCI: To expand the "start" and "end" SV positions with the VCF confidence intervals (CIPOS, CIEND) around the breakpoints
AnnotSV keeps the CIPOS and CIEND information that comes first in the INFO column (even if the fields are CIPOS95, CIEND95 or tool_CIPOS, tool_CIEND).
Values: 1 (default) or 0
-metrics: Changing numerical values from frequencies to us or fr metrics (e.g. 0.2 or 0,2)
Values: us (default) or fr
-minTotalNumber: Minimum number of individuals tested to consider a benign SV for the ranking
Range values: [100-1000], default = 500
-missingGTinSamplesid: To report sample IDs with missing alleles in the GT field (./. or .|.) in the "Samples_ID" output field
Values: 1 (default) or 0
-outputDir: Output path name
-outputFile: Output path and file name
-overlap: Minimum overlap (%) between user features (User BED) and the annotated SV to be reported
Range values: [0-100], default = 100
-overwrite: To overwrite existing output results
Values: 1 (default) or 0
-promoterSize: Number of bases upstream from the transcription start site
Default = 500
-rankFiltering: To select the SV of a user-defined specific class (from 1 to 5; or NA)
Values: use comma separated class values, or use a dash to denote a range of values
(e.g.: "3,4,5" or "3-5"), default = "1-5,NA"
-reciprocal: Use of a reciprocal overlap between SV and user features (only for annotations with features overlapping the SV)
Values: 0 (default) or 1
-REreport: Create a report to link the annotated SV and the overlapped regulatory elements (coordinates and sources)
Values: 0 (default) or 1
-REselect1: To report only the morbid, HI, TS, candidate and phenotype matched genes
Values: 1 (default) or 0
-REselect2: To report only the genes not present in "Gene_name"
Values: 1 (default) or 0
-samplesidBEDcol: Number of the column reporting the samples ID for which the SV was called (if the input SV file is a BED)
Range values: [4-[, default = -1 (value not given)
(Samples ID should be comma or space separated)
-snvIndelFiles: Path of the VCF input file(s) with SNV/indel coordinates used for false positive discovery
Use counts of the homozygous and heterozygous variants
Gzipped VCF files are supported as well as regular expression
-snvIndelPASS: Boolean. To only use variants from VCF input files that passed all filters during the calling (FILTER column value equal to PASS)
Values: 0 (default) or 1
-snvIndelSamples: To specify the sample names from the VCF files defined from the -snvIndelFiles option
Default: use all samples from the VCF files
-SVinputFile: Path of the input file (VCF or BED) with SV coordinates
Gzipped VCF file is supported
-SVinputInfo: To extract the additional SV input fields and insert the data in the outputfile
Values: 1 (default) or 0
-SVminSize: SV minimum size (in bp)
AnnotSV does not annotate small deletion, insertion and duplication from a VCF input file
Default = 50
-svtBEDcol: Number of the column describing the SV type (DEL, DUP) if the input SV file is a BED
Range values: [4-[, default = -1 (value not given)
-tx: Origin of the transcripts (RefSeq or ENSEMBL)
Values: RefSeq (default) or ENSEMBL
-txFile: Path of a file containing a list of preferred genes transcripts to be used in priority during the annotation (Preferred genes transcripts names should be tab or space separated)
-variantconvertDir: Path of the variantconvert directory
(by default, the variantconvert tool distributed by annotSV is used)
-variantconvertMode: variantconvert conversion mode
Values: combined (default) or full or fullsplit
-version: Version of the AnnotSV program
-vcf: Creation of a VCF output file format (-svtBEDcol needs to be defined too)
Values: 0 (default) or 1
================================================
FILE: etc/AnnotSV/application.properties
================================================
#
# The Exomiser - A tool to annotate and prioritize genomic variants
#
# Copyright (c) 2016-2018 Queen Mary University of London.
# Copyright (c) 2012-2016 Charit Universittsmedizin Berlin and Genome Research Ltd.
#
# This program is free software: you can redistribute it and/or modify
# it under the terms of the GNU Affero General Public License as
# published by the Free Software Foundation, either version 3 of the
# License, or (at your option) any later version.
#
# This program is distributed in the hope that it will be useful,
# but WITHOUT ANY WARRANTY; without even the implied warranty of
# MERCHANTABILITY or FITNESS FOR A PARTICULAR PURPOSE. See the
# GNU Affero General Public License for more details.
#
# You should have received a copy of the GNU Affero General Public License
# along with this program. If not, see .
#
spring.application.name=exomiser-prioritiser-service
server.servlet.context-path=/exomiser/api/prioritise
server.port=XXXX
server.servlet.application-display-name=Exomiser Prioritiser Server
#Absolute system path where the exomiser data is installed
#exomiser.data-directory=${project.build.testOutputDirectory}
exomiser.data-directory=YYYY
exomiser.phenotype.data-version=ZZZZ
exomiser.phenotype.random-walk-preload=true
#Actuator configuration
info.name=${server.display-name}
info.build.version=${project.version}
info.build.timestamp=${build.timestamp}
================================================
FILE: etc/AnnotSV/configfile
================================================
# This file is used to simplify the configuration of AnnotSV.
# Anything behind a hashtag is considered as a comment
# Please, feel free to change the AnnotSV options.
#------------------
# AnnotSV Options :
#------------------
-annotationMode: "both"
-benignAF: 0.01
-candidateGenesFiltering: 0
-genomeBuild: "GRCh38"
-hpo: ""
-includeCI: 1
-metrics: "us"
-minTotalNumber: "500"
-overlap: 100
-overwrite: 1
-promoterSize: 500
-rankFiltering: "1-5,NA"
-reciprocal: 0
-snvindelPASS: 0
-SVinputInfo: 1
-SVminSize: 50
-variantconvertMode: "combined"
-vcf: 0
#------------------------
# AnnotSV Output columns:
#------------------------
# Output column names are listed below.
# In order to disable default annotations provided by AnnotSV, some column names (the ones that are not marked with an *) can be commented with a hash character ("#") by the user.
AnnotSV_ID *
SV_chrom *
SV_start *
SV_end *
SV_length *
SV_type *
Samples_ID *
Annotation_mode *
# Genes annotations:
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 *
# Regulatory Elements annotations:
RE_gene *
# Annotations with benign genes or genomic regions:
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 *
# Annotations with pathogenic genes or genomic regions:
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
P_inv_phen
P_inv_hpo
P_inv_source
P_inv_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 *
# Annotations with pathogenic snv/indel:
P_snvindel_nb *
P_snvindel_phen *
# Cancer
Cosmic_ID *
Cosmic_mut_typ *
# Breakpoints annotations
TAD_coordinate
ENCODE_experiment
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
# Gene-based annotations:
ACMG
HI *
TS *
GenCC_disease
GenCC_moi
GenCC_classification
GenCC_pmid
NCBI_gene_ID
HGNC_gene_ID
DDD_status
DDD_mode
DDD_consequence
DDD_disease
DDD_pmid
DDD_HI_percent *
ExAC_synZ
ExAC_misZ
ExAC_delZ
ExAC_dupZ
ExAC_cnvZ
LOEUF_bin *
ExAC_pLI
GnomAD_pLI *
OMIM_morbid *
OMIM_morbid_candidate
OMIM_ID
OMIM_phenotype
OMIM_inheritance
GnomAD_pLI *
PhenoGenius_score
PhenoGenius_phenotype
PhenoGenius_specificity *
Exomiser_gene_pheno_scorea *
Human_pheno_evidence
Mouse_pheno_evidence
Fish_pheno_evidence
# Ranking:
AnnotSV_ranking_score *
AnnotSV_ranking_criteria *
ACMG_class *
#--------------------------
# AnnotSV ranking criteria:
#--------------------------
# The comprehensive and detailed scoring guidelines are available at:
# https://lbgi.fr/AnnotSV/Documentation/Scoring_Criteria_AnnotSV_latest.xlsx
# Customizing the weights of AnnotSV ranking criteria
# ---------------------------------------------------
# To adjust the importance of each criterion in the AnnotSV ranking,
# modify the values below. Values can be positive or negative floats.
# Loss
1A_Loss 0.00
1B_Loss -0.60
2A_Loss 1.00
2B_Loss 0.00
2C-1_Loss 0.90
2C-2_Loss 0.00
2D-1_Loss 0.00
2D-2_Loss 0.90
2D-3_Loss 0.45
2D-4_Loss 0.90
2E-1_Loss 0.90
2E-2_Loss 0.45
2E-3_Loss 0.30
2E-4_Loss 0.20
2F-4O_Loss -1.00
2G_Loss 0.00
2H_Loss 0.15
3A_Loss 0.00
3B_Loss 0.45
3C_Loss 0.90
4O_Loss -1.00
5F_Loss 0.00
5G_Loss 0.10
5H_Loss 0.30
# Gain
1A_Gain 0.00
1B_Gain -0.60
2A_Gain 1.00
2B_Gain 0.00
2C_Gain -1.00
2D_Gain -1.00
2E_Gain 0.00
2F_Gain -1.00
2G_Gain 0.00
2H-1_Gain 0.45
2H-2_Gain 0.00
2I-1_Gain 0.45
2I-2_Gain 0.45
2I-3_Gain 0.00
2J_Gain 0.00
2K_Gain 0.45
2L_Gain 0.00
3A_Gain 0.00
3B_Gain 0.45
3C_Gain 0.90
4O_Gain 0.00
5F_Gain 0.00
5G_Gain 0.10
5H_Gain 0.15
================================================
FILE: share/bash/AnnotSV/checkPhenoGeniusCliInstall.sh
================================================
#!/bin/bash
# Bash script:
# A successfully executed code should exit with code 0.
# Other values indicate an error.
# Poetry is required
####################
poetryDir=`which poetry`
# The "$poetryDir" directory should exist
if [ ! -e "$poetryDir" ]
then
echo "Poetry seems not to be installed"
echo "WARNING: No PhenoGenius annotations available."
exit 1
fi
# Poetry version
################
# poetryVersion=`poetry --version | sed "s/Poetry (version //" | sed "s/)//"`
# e.g. Poetry (version 1.5.1)
# echo "Poetry: $poetryVersion"
# PhenogeniusCli install (if needed)
####################################
mkdir -p $ANNOTSV/share/python3/phenogeniuscli
cd $ANNOTSV/share/python3/phenogeniuscli
if [ ! -d PhenoGeniusCli ]
then
git clone https://github.com/kyauy/PhenoGeniusCli.git >> PhenoGeniusCli.install.log 2>&1
cd ./PhenoGeniusCli >> PhenoGeniusCli.install.log 2>&1
# Search for the last PhenoGenius version tested/validated with AnnotSV
git checkout tags/v.1.1.3 >> ../PhenoGeniusCli.install.log 2>&1
rm -rf .git .gitattributes .github .gitignore >> ../PhenoGeniusCli.install.log 2>&1
poetry config keyring.enabled false
poetry install &> ../poetry_install.log
fi
cd $ANNOTSV/share/python3/phenogeniuscli/PhenoGeniusCli
poetry run python3 phenogenius_cli.py --help &> ../PhenoGenius.run.test1.log
if [ `grep -c -- "--hpo_list" ../PhenoGenius.run.test1.log` == "1" ]
then
exit 0
else
poetry config keyring.enabled false
poetry install &> ../poetry_install.log ;# Can be run from different servers
poetry run python3 phenogenius_cli.py --help &> ../PhenoGenius.run.test2.log
if [ `grep -c -- "--hpo_list" ../PhenoGenius.run.test2.log` == 1 ]
then
exit 0
else
echo "phenogenius_cli.py not installed"
echo "WARNING: No PhenoGenius annotations available."
exit 1
fi
fi
================================================
FILE: share/bash/AnnotSV/searchForAFreePortNumber.bash
================================================
#!/bin/bash
# com: Compare two sorted files line by line. Output the lines that are common, plus the lines that are unique.
# comm [options]... File1 File2
# -2 Suppress lines unique to file2
# -3 Suppress lines that appear in both files
#
# seq: print a sorted sequence of numbers from 5000 to 50000
#
# ss: used to dump socket statistics.
# -H, --no-header
# -n, --numeric
# Do not try to resolve service names. Show exact bandwidth
# values, instead of human-readable.
# -t, --tcp
# Display TCP sockets.
# e.g. "ss -Htan" >>> "LISTEN 0 5 0.0.0.0:63864 0.0.0.0:*"
comm -23 <(seq 5000 50000 | sort) <(ss -Htan | awk '{print $4}' | cut -d':' -f2 | sort -u) | head -n 1
================================================
FILE: share/doc/AnnotSV/Example/README.commands
================================================
$ANNOTSV/bin/AnnotSV -SVinputFile test1.bed -outputFile ./test1.annotated.tsv -svtBEDcol 4 -genomeBuild GRCh37 -vcf 1
$ANNOTSV/bin/AnnotSV -SVinputFile test2.vcf -outputFile ./test2.annotated.tsv -genomeBuild GRCh37 -vcf 1
================================================
FILE: share/doc/AnnotSV/Example/test1.annotated.tsv
================================================
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 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 HGNC_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 -2569284 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-AS1;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;FAM247B;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 78 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);AHR (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);BLOC1S6 (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);CAPNS1 (morbid/RE=mTL_miRNA);CASP14 (morbid/RE=mTL_miRNA);CBL (morbid/RE=mTL_miRNA);CCDC134 (morbid/RE=mTL_miRNA);CCDC88A (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)... 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1);Schwannomatosis CLN:906110;CLN:906111;CLN:917324;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;22:21344737-21344807;22:21345949-21346047;22:21348439-21348534 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;DiGeorge_syndrome;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;Meier-Gorlin syndrome 7, 617063 (3) AR;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|Intellectual_disability|Acute_rhabdomyolysis|Episodic_flaccid_weakness|Seizure|Cardiac_arrhythmia;Thrombophilia 10 due to heparin cofactor II deficiency, 612356 (3) AD;Van den Ende-Gupta syndrome, 600920 (3) AR 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:CDC45;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;22:19467443-19508131;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 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 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) 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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;0.10 626 2-hydroxyglutaric_aciduria;Abnormality_of_metabolism/homeostasis;Acute_rhabdomyolysis;Autism_spectrum_disorder;Bardet-Biedl_syndrome;Bernard_Soulier_syndrome;CEDNIK_syndrome;CLDN5-related_neurodevelopmental_disorder;CLDN5_deficiency;Cardiac_arrhythmia;Cardiovascular_phenotype;D,L-2-hydroxyglutaric_aciduria;DiGeorge_syndrome;Emery-Dreifuss_muscular_dystrophy;Episodic_flaccid_weakness;Hereditary_cancer-predisposing_syndrome;Hypertrophic_cardiomyopathy_1;Hypomyelinating_leukodystrophy_2;Inborn_genetic_diseases;Intellectual_disability;LZTR1-related_disorder;LZTR1-related_schwannomatosis;Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation;Meier-Gorlin_syndrome_7;Metabolic_crises_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration;Myasthenic_syndrome,_congenital,_23,_presynaptic;Neurodevelopmental_disorder;Noonan_syndrome;Noonan_syndrome_1;Noonan_syndrome_10;Noonan_syndrome_2;Noonan_syndrome_and_Noonan-related_syndrome;PI4KA-related_disorder;Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis;Proline_dehydrogenase_deficiency;RASopathy;Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome;SLC25A1-related_disorder;Schizophrenia_4;Schwannomatosis;See_cases;Seizure;Spastic_paraplegia_84,_autosomal_recessive;TANGO2-related_disorder;TBX1-related_disorder;Thrombocytopenia;Van_den_Ende-Gupta_syndrome;Velocardiofacial_syndrome;not_specified IMH 22:17036164-22613666 0.1686 22:18667571-18994853 DDD:56146;22:18877788-19033532 dgv543n27;22:18884850-18926400 gnomAD-SV_v2.1_DUP_22_50647;22:18912158-18998999 esv3647250;22:19148049-19148136 gnomAD-SV_v2.1_DUP_22_50677;22:20062642-20063204 IMH;22:20313251-20369884 DDD:56225;22:20330330-20450295 DDD:56232;22:20659548-20717455 DDD:56255;22:21033800-21039000 gnomAD-SV_v2.1_DUP_22_50819;22:21383283-21845355 esv2760719 22:18655861-19006984 dgv99e203;22:18876429-19006125 DDD:56173;22:18882313-19012377 DDD:56174;22:18912158-18998999 1000g;22:18924000-18940000 gnomAD-SV_v2.1_DUP_22_50652;22:19702276-19702320 DDD:56203;22:20067805-20068161 DDD:56218;22:20322450-20718598 DDD:56226;22:20343574-20380608 DDD:56234;22:20705946-20718598 DDD:56260;22:21088868-21089010 DDD:56283 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... 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 (78 genes, +0.90);5F (+0.00) 5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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;dgv543n27;dgv99e203;gnomAD-SV_v2.1_DUP_22_50647 22:18655861-19006984;22:18667571-18994853;22:18876429-19006125;22:18877788-19033532;22:18882313-19012377;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 HGNC:2846 9 9.8176e-12 7.6210e-07 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 11 Inborn_genetic_diseases;Proline_dehydrogenase_deficiency;Schizophrenia_4 DDD:56146;DDD:56173;DDD:56174;dgv543n27;dgv99e203;gnomAD-SV_v2.1_DUP_22_50647 22:18655861-19006984;22:18667571-18994853;22:18876429-19006125;22:18877788-19033532;22:18882313-19012377;22:18884850-18926400 0.0355 dbVar chr22:18884924-19013000;chr22:18884925-18927000 0.01 IMH 22:17036164-22613666;22:18655109-20719124 0.1686 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 HGNC:9453 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 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 LOC122455341 NR_173081 1 18926981 18935206 8225 0 0 NA 2 txStart-txEnd UTR 18926981 18935206 1000g;DDD:56146;DDD:56173;DDD:56174;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;22:18912158-18998999;22:18912158-18998999;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 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 DGCR5 NR_110533 2 18957980 19018755 60775 0 0 NA 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 HGNC:16757 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 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;22:19014638-21718005 0.4801 117134596 HGNC:54842 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 39.12 -0.375038933750903 0.817637812863819 schizophrenia AD Limited 9993 HGNC:2845 4 5.1573e-06 1.0959e-03 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 DGCR11 NR_024157 1 19033674 19035888 2214 0 0 NA 1 txStart-txEnd UTR 19033674 19035888 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 HGNC:17226 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 chr22:18934999-21466000 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 HGNC:16817 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 chr22:18934999-21466000 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 HGNC:11401 6 3.8610e-03 4.1565e-03 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 chr22:18934999-21466000 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 HGNC:4613 9 4.4347e-03 3.7186e-02 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 LINC01311 NR_103767 1 19159218 19160345 1127 0 0 NA 1 txStart-txEnd UTR 19159218 19160345 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 HGNC:50503 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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_disorder 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 HGNC:10979 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 -2569284 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 chr22:18934999-21466000 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 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 HGNC:2093 5 2.5101e-37 1.2408e-26 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 0 0 19.48 -2.51547904504873 -2.53125239294469 -2.47162789907313 -0.543665561522748 3.98018572942351 neurodevelopmental disorder AD Limited 33417013 7290 HGNC:4916 0 1.0000e+00 1.0000e+00 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 chr22:18934999-21466000 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 HGNC:14491 4 5.2924e-02 2.0082e-02 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 chr22:18934999-21466000 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 HGNC:27012 9 1.9976e-05 3.6900e-07 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 UFD1-AS1 NR_186687 1 19434956 19439211 4255 0 0 NA 2 txStart-txEnd UTR 19434956 19439211 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 105372860 HGNC:55917 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 chr22:18934999-21466000 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 7353 HGNC:12520 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 Meier-Gorlin syndrome 7, 617063 (3) AR dbVar:nssv15124515;morbid:CDC45 22:19467443-19508131;22:19470352-19481849 10 Meier-Gorlin_syndrome_7 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 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 HGNC:1739 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 -2569284 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 3 CLDN5-related_neurodevelopmental_disorder;CLDN5_deficiency;Neurodevelopmental_disorder 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 neurodevelopmental disorder AD Limited 35714222;36477332 7122 HGNC:2047 1 8.9512e-01 7.4052e-01 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 LINC00895 NR_024381 1 19553652 19554362 710 0 0 NA 1 txStart-txEnd UTR 19553652 19554362 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 HGNC:48580 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 HGNC:9164 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 SEPT5-GP1BB NR_037611 1 19704742 19712297 7555 0 0 NA 12 txStart-txEnd UTR 19704742 19712297 Bernard-Soulier syndrome, type B, 231200 (3) AR;Giant platelet disorder, isolated, 231200 (3) AR dbVar:nssv17977042;morbid:GP1BB 22:19711062-19712294;22:19711829-19711877 8 Bernard_Soulier_syndrome;Thrombocytopenia 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 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 GP1BB NM_000407 5 19711061 19712294 1233 621 100 no 2 txStart-txEnd 5'UTR-3'UTR 19711061 19712294 Bernard-Soulier syndrome, type B, 231200 (3) AR;Giant platelet disorder, isolated, 231200 (3) AR dbVar:nssv17977042;morbid:GP1BB 22:19711062-19712294;22:19711829-19711877 8 Bernard_Soulier_syndrome;Thrombocytopenia 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 30 78.01 -0.00224146961144303 0.855158778511627 Bernard-Soulier syndrome;autosomal dominant macrothrombocytopenia AD;AR Definitive;Strong;Supportive 10887115;12447957;15213102;18825380;19484238;22886561[PMID];23995613;28064200[PMID] 2812 HGNC:4440 138720 Bernard-Soulier syndrome, type B, 231200 (3) AR;Giant platelet disorder, isolated, 231200 (3) AR AR yes 7 5.1249e-01 1.0112e-01 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 TBX1 NM_001379200 1 19748300 19754857 6557 1515 100 no 7 txStart-txEnd 5'UTR-3'UTR 19748300 19754857 Conotruncal anomaly face syndrome, 217095 (3);DiGeorge syndrome, 188400 (3) AD;Tetralogy of Fallot, 187500 (3) AD;Velocardiofacial syndrome, 192430 (3) AD;DiGeorge_syndrome CLN:959024;morbid:TBX1 22:19748301-19754857;22:19748451-19748647 27 DiGeorge_syndrome;Inborn_genetic_diseases;TBX1-related_disorder;Velocardiofacial_syndrome 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 1 0 4.92 -2.62354415217069 -2.53125239294469 -2.47162789907313 2.36782594176173 3.38001100960461 22q11.2 deletion syndrome;conotruncal heart malformations;velocardiofacial syndrome AD Definitive;Strong;Supportive 11239417;11242049;11242110;11748311;14585638;14585638[PMID];18636631;192430;20054531;20937753;24637876;24998776;25860641;29500247 6899 HGNC:11592 602054 Conotruncal anomaly face syndrome, 217095 (3);DiGeorge syndrome, 188400 (3) AD;Tetralogy of Fallot, 187500 (3) AD;Velocardiofacial syndrome, 192430 (3) AD AD yes 2 8.3661e-01 9.8340e-01 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 GNB1L NM_053004 3 19770745 19842397 71652 984 100 no 8 txStart-txEnd 5'UTR-3'UTR 19770745 19842397 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 48.57 -2.62354415217069 -2.53125239294469 -2.47162789907313 -0.373621593221624 0.590344002361273 54584 HGNC:4397 5 4.7419e-05 1.2635e-03 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 RTL10 NM_024627 6 19833668 19842397 8729 1095 82 no 3 txStart-txEnd 5'UTR-3'UTR 19833668 19842397 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 79680 HGNC:26112 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 TXNRD2 NM_006440 5 19863044 19929341 66297 1575 100 no 18 txStart-txEnd 5'UTR-3'UTR 19863044 19929341 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 72.21 -2.62354415217069 -2.53125239294469 -2.47162789907313 0.348188483468328 0.327140414338646 dilated cardiomyopathy;familial glucocorticoid deficiency;familial isolated dilated cardiomyopathy;glucocorticoid deficiency 5 AD;AR Limited;Supportive 21247928[PMID];24601690[PMID];30237576;32476818 10587 HGNC:18155 606448 ?Glucocorticoid deficiency 5, 617825 (3) AR AR yes 5 3.4688e-11 1.0692e-08 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 COMT NM_000754 4 19929294 19957498 28204 816 100 no 6 txStart-txEnd 5'UTR-3'UTR 19929294 19957498 1 Bardet-Biedl_syndrome 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 40.8 -2.62354415217069 -2.53125239294469 -2.47162789907313 0.465852147917107 0.557839148920189 paroxysmal dyskinesia AD Moderate 1312 HGNC:2228 116790 (Panic disorder, susceptibility to), 167870 (3) ?AD;(Schizophrenia, susceptibility to), 181500 (3) AD ?AD;AD yes 8 1.1377e-06 8.4666e-04 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 MIR4761 NR_039918 1 19951275 19951357 82 0 0 NA 1 txStart-txEnd UTR 19951275 19951357 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 100616414 HGNC:41591 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 ARVCF NM_001670 3 19957418 20004346 46928 2889 100 no 20 txStart-txEnd 5'UTR-3'UTR 19957418 20004346 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 54.56 -2.62354415217069 -2.53125239294469 -2.47162789907313 0.425870777992255 -0.701931719398633 421 HGNC:728 4 5.0422e-11 8.2184e-07 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 TANGO2 NM_001322141 2 20008632 20054687 46055 1110 100 no 9 txStart-txEnd 5'UTR-3'UTR 20008632 20054687 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3) AR;Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Intellectual_disability|Acute_rhabdomyolysis|Episodic_flaccid_weakness|Seizure|Cardiac_arrhythmia 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;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 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 27 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;TANGO2-related_disorder 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 51.91 -2.62354415217069 -2.53125239294469 -2.47162789907313 1.46130508236304 0.279301120222081 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration;recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome AR Moderate;Strong 26805781;26805782 128989 HGNC:25439 616830 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3) AR AR yes 4 1.4769e-04 4.2224e-06 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 MIR185 NR_029706 1 20020661 20020743 82 0 0 NA 1 txStart-txEnd UTR 20020661 20020743 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 406961 HGNC:31556 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 DGCR8 NM_022720 7 20067763 20099395 31632 2322 100 no 14 txStart-txEnd 5'UTR-3'UTR 20067763 20099395 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 5.07 -2.46581011772843 -2.53125239294469 -2.47162789907313 0.690563071344625 4.03153091509844 54487 HGNC:2847 0 9.9973e-01 9.9990e-01 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 MIR3618 NR_037412 1 20073268 20073356 88 0 0 NA 1 txStart-txEnd UTR 20073268 20073356 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 100500860 HGNC:38937 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 MIR1306 NR_031706 1 20073580 20073665 85 0 0 NA 1 txStart-txEnd UTR 20073580 20073665 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 100302197 HGNC:35371 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 TRMT2A NM_001331039 2 20099397 20104749 5352 1932 100 no 12 txStart-txEnd 5'UTR-3'UTR 20099397 20104749 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 68.23 -2.62354415217069 -2.53125239294469 -2.47162789907313 -1.98609532754524 -0.363927890852326 27037 HGNC:24974 5 1.0841e-08 1.3059e-05 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 MIR6816 NR_106874 1 20102208 20102274 66 0 0 NA 1 txStart-txEnd UTR 20102208 20102274 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 102465490 HGNC:50256 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 RANBP1 NM_001278639 2 20103626 20114878 11252 837 100 no 6 txStart-txEnd 5'UTR-3'UTR 20103626 20114878 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 8.76 -2.62354415217069 -2.53125239294469 -2.47162789907313 -1.04492215962902 2.06932219421127 5902 HGNC:9847 2 8.2235e-01 3.3622e-01 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 SNORA77B NR_145765 1 20113924 20114049 125 0 0 NA 1 txStart-txEnd UTR 20113924 20114049 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 109617010 HGNC:52221 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 ZDHHC8 NM_001185024 2 20119326 20135530 16204 2337 100 no 11 txStart-txEnd 5'UTR-3'UTR 20119326 20135530 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 37.82 -2.62354415217069 -2.53125239294469 -2.47162789907313 -0.408428770523539 2.39258092860216 29801 HGNC:18474 1 8.5288e-01 9.8899e-01 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 CCDC188 NM_001365892 2 20135938 20138578 2640 1209 100 no 9 txStart-txEnd 5'UTR-3'UTR 20135938 20138578 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 388849 HGNC:51899 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 LINC02891 NR_038460 2 20186251 20192441 6190 0 0 NA 4 txStart-txEnd UTR 20186251 20192441 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 284865 HGNC:55221 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 LINC00896 NR_026919 1 20193854 20196060 2206 0 0 NA 1 txStart-txEnd UTR 20193854 20196060 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 150197 HGNC:26519 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 RTN4R NM_023004 6 20228937 20255841 26904 1422 100 no 2 txStart-txEnd 5'UTR-3'UTR 20228937 20255841 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 35.77 -0.800223805913347 1.18081437151802 65078 HGNC:18601 605566 (Schizophrenia, susceptibility to), 181500 (3) AD AD yes 1 9.5882e-01 5.2644e-01 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 MIR1286 NR_031618 1 20236656 20236734 78 0 0 NA 1 txStart-txEnd UTR 20236656 20236734 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 100302118 HGNC:35279 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 DGCR6L NM_033257 4 20301760 20307583 5823 663 100 no 5 txStart-txEnd 5'UTR-3'UTR 20301760 20307583 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:19014638-21718005 0.1686 79.33 0.698499439551705 0.174075190759776 85359 HGNC:18551 7 5.0636e-05 1.2857e-01 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 FAM230A NR_165629 1 20326419 20350461 24042 0 0 NA 12 txStart-txEnd UTR 20326419 20350461 DDD:56225;DDD:56226 22:20313251-20369884;22:20322450-20718598 0.0509 DDD:56225;DDD:56226;dbVar chr22:18934999-21466000;22:20313251-20369884;22:20322450-20718598 0.0959 IMH 22:17036164-22613666;22:18655109-20719124;22:19014638-21718005 0.1686 97.89 653203 HGNC:45045 7 4.8065e-01 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 FAM247B NR_186690 1 20351090 20362291 11201 0 0 NA 2 txStart-txEnd UTR 20351090 20362291 DDD:56225;DDD:56226;DDD:56232;DDD:56234 22:20313251-20369884;22:20322450-20718598;22:20330330-20450295;22:20343574-20380608 0.0509 DDD:56225;DDD:56226;DDD:56232;DDD:56234;dbVar chr22:18934999-21466000;22:20313251-20369884;22:20322450-20718598;22:20330330-20450295;22:20343574-20380608 0.0959 IMH 22:17036164-22613666;22:18655109-20719124;22:19014638-21718005 0.1686 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 GGTLC3 NM_001355479 1 20366210 20368028 1818 678 100 no 6 txStart-txEnd 5'UTR-3'UTR 20366210 20368028 DDD:56225;DDD:56226;DDD:56232;DDD:56234 22:20313251-20369884;22:20322450-20718598;22:20330330-20450295;22:20343574-20380608 0.0509 DDD:56225;DDD:56226;DDD:56232;DDD:56234;dbVar chr22:18934999-21466000;22:20313251-20369884;22:20322450-20718598;22:20330330-20450295;22:20343574-20380608 0.0959 IMH 22:17036164-22613666;22:18655109-20719124;22:19014638-21718005 0.1686 94.16 728226 HGNC:33426 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 TMEM191B NM_001242313 1 20377668 20380440 2772 1041 100 no 9 txStart-txEnd 5'UTR-3'UTR 20377668 20380440 DDD:56226;DDD:56232;DDD:56234 22:20322450-20718598;22:20330330-20450295;22:20343574-20380608 0.0509 DDD:56226;DDD:56232;DDD:56234;dbVar chr22:18934999-21466000;22:20322450-20718598;22:20330330-20450295;22:20343574-20380608;chr22:20366424-20403000;chr22:20374000-20389000 0.0284 IMH 22:17036164-22613666;22:18655109-20719124;22:19014638-21718005 0.1686 728229 HGNC:33600 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 PI4KAP1 NR_003563 1 20383730 20398695 14965 0 0 NA 15 txStart-txEnd UTR 20383730 20398695 DDD:56226;DDD:56232 22:20322450-20718598;22:20330330-20450295 0.0509 DDD:56226;DDD:56232;dbVar chr22:18934999-21466000;22:20322450-20718598;22:20330330-20450295;chr22:20366424-20403000 0.0189 IMH 22:17036164-22613666;22:18655109-20719124;22:19014638-21718005 0.1686 728233 HGNC:33576 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 RIMBP3 NM_015672 2 20455681 20461786 6105 4920 91 no 1 txStart-txEnd 5'UTR-3'UTR 20455681 20461786 DDD:56226 22:20322450-20718598 0.0509 DDD:56226;HI40:ISCA-46728;dbVar;dgv817e199 chr22:18934999-21466000;22:20322450-20718598;22:20423846-20488792;22:20428071-20499197 0.0300 IMH 22:17036164-22613666;22:18655109-20719124;22:19014638-21718005 0.1686 90.21 85376 HGNC:29344 7 9.0005e-09 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 FAM246B NM_001396026 1 20483850 20484549 699 699 100 no 1 txStart-txEnd 5'UTR-3'UTR 20483850 20484549 DDD:56226 22:20322450-20718598 0.0509 DDD:56226;HI40:ISCA-46728;dbVar;dgv817e199 chr22:18934999-21466000;22:20322450-20718598;22:20423846-20488792;22:20428071-20499197 0.0300 IMH 22:17036164-22613666;22:18655109-20719124;22:19014638-21718005 0.1686 117134597 HGNC:54843 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 FAM230J NR_136569 2 20632119 20656858 24739 0 0 NA 9 txStart-txEnd UTR 20632119 20656858 DDD:56226 22:20322450-20718598 0.0509 DDD:56226;dbVar chr22:18934999-21466000;22:20322450-20718598 0.0118 IMH 22:17036164-22613666;22:18655109-20719124;22:19014638-21718005 0.1686 729461 HGNC:52448 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 FAM230G NR_165637 1 20689194 20706786 17592 0 0 NA 7 txStart-txEnd UTR 20689194 20706786 DDD:56226;DDD:56255 22:20322450-20718598;22:20659548-20717455 0.0509 DDD:56226;DDD:56255;dbVar chr22:18934999-21466000;22:20322450-20718598;22:20659548-20717455 0.0604 IMH 22:17036164-22613666;22:18655109-20719124;22:19014638-21718005 0.1686 101927859 HGNC:52423 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 ZNF74 NM_001256524 2 20748440 20762745 14305 1935 100 no 6 txStart-txEnd 5'UTR-3'UTR 20748440 20762745 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:19014638-21718005 0.1686 86.28 -1.30437956536809 -1.89912490049618 -1.51976012533128 2.28676628831896 2.39892044394279 7625 HGNC:13144 4 1.5586e-06 3.5588e-04 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 SCARF2 NM_153334 7 20778873 20792112 13239 2607 100 no 14 txStart-txEnd 5'UTR-3'UTR 20778873 20792112 Van den Ende-Gupta syndrome, 600920 (3) AR morbid:SCARF2 22:20778874-20792112 3 Van_den_Ende-Gupta_syndrome dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:19014638-21718005 0.1686 30 0 70.17 -1.42333559636086 -1.93669033911618 -1.61173791689534 van den Ende-Gupta syndrome AR Limited;Moderate;Strong;Supportive 20887961;20887961[PMID]_22140376[PMID];22140376;23808541;24478002;3808541 91179 HGNC:19869 613619 Van den Ende-Gupta syndrome, 600920 (3) AR AR yes 0 9.9980e-01 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 KLHL22 NM_032775 4 20795805 20850082 54277 1905 100 no 7 txStart-txEnd 5'UTR-3'UTR 20795805 20850082 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:19014638-21718005 0.1686 41.2 -1.60479766897668 -1.94085802577819 -1.599983320827 -0.00460568166698648 2.85964800561254 84861 HGNC:25888 2 4.2419e-01 7.0261e-01 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 MED15 NM_001003891 3 20861896 20941906 80010 2367 100 no 18 txStart-txEnd 5'UTR-3'UTR 20861896 20941906 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:19014638-21718005 0.1686 24.41 0.672972182845271 2.65389095774821 51586 HGNC:14248 0 9.9974e-01 9.6081e-01 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 POM121L4P NR_024592 1 21043842 21046009 2167 0 0 NA 1 txStart-txEnd UTR 21043842 21046009 dbVar chr22:18934999-21466000;chr22:21027000-21048000 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 TMEM191A NR_026815 1 21055401 21058891 3490 0 0 NA 8 txStart-txEnd UTR 21055401 21058891 dbVar chr22:18934999-21466000;chr22:21052000-21466000 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 84222 HGNC:25317 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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_disorder;Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis;Spastic_paraplegia_84,_autosomal_recessive dbVar chr22:18934999-21466000;chr22:21052000-21466000 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 35.17 1.20573288011437 5.29477062168781 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis AR Moderate;Strong 25855803;29738522;30614210;34415310;34415322 5297 HGNC:8983 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 -2569284 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 chr22:18934999-21466000;chr22:21052000-21466000;chr22:21078735-21159481 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 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 HGNC:4838 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 -2569284 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 15 CEDNIK_syndrome;Hypomyelinating_leukodystrophy_2;Inborn_genetic_diseases 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 HGNC:11133 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 -2569284 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 chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 1 0 4.35 -0.928255048107525 -1.20830830104818 -0.791505674827999 0.477351976371369 3.00980268645085 congenital heart disease No Known Disease Relationship 1399 HGNC:2363 3 4.4604e-01 1.6345e-01 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 LINC01637 NR_110537 1 21311379 21318968 7589 0 0 NA 2 txStart-txEnd UTR 21311379 21318968 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 HGNC:52424 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 chr22:18934999-21466000;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 HGNC:26398 5 1.9474e-14 1.9583e-10 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 Schwannomatosis CLN:906110;CLN:906111;CLN:917324 22:21344737-21344807;22:21345949-21346047;22:21348439-21348534 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 502 Autism_spectrum_disorder;Cardiovascular_phenotype;Emery-Dreifuss_muscular_dystrophy;Hereditary_cancer-predisposing_syndrome;Hypertrophic_cardiomyopathy_1;LZTR1-related_disorder;LZTR1-related_schwannomatosis;Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation;Noonan_syndrome;Noonan_syndrome_1;Noonan_syndrome_10;Noonan_syndrome_2;Noonan_syndrome_and_Noonan-related_syndrome;RASopathy;Schwannomatosis;See_cases;not_specified dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 32.82 -1.25119505668143 -1.28020537251329 -0.946080819110286 0.246895000414255 0.909128978651125 LZTR1-related schwannomatosis;Noonan syndrome;Noonan syndrome 10;Noonan syndrome 2;breast cancer;schwannomatosis AD;AR Definitive;Moderate;Strong;Supportive 15955931;16534111;23401320;24362817;25335493;25480913;25795793;25795793[PMID];26446362;274799;278971;287232;29469822;29959388;30368668;303983;30442762;30442766;30481304;30859559;31182298;37592023;37936555;38135892 8216 HGNC:6742 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
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 THAP7 NM_030573 3 21353392 21356407 3015 930 100 no 4 txStart-txEnd 5'UTR-3'UTR 21353392 21356407 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 50.87 -1.44618961523547 -1.52989215323949 -1.19895133869269 -1.50983365445593 1.16392737773964 80764 HGNC:23190 4 1.3291e-02 2.9328e-02 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 THAP7-AS1 NR_027051 1 21356210 21364663 8453 0 0 NA 2 txStart-txEnd UTR 21356210 21364663 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 439931 HGNC:41013 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 TUBA3FP NR_003608 1 21362491 21368576 6085 0 0 NA 3 txStart-txEnd UTR 21362491 21368576 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776;chr22:21358356-21370047;chr22:21360600-21369738 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 113691 HGNC:24067 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 P2RX6 NM_001394691 1 21369453 21382297 12844 1422 100 no 12 txStart-txEnd 5'UTR-3'UTR 21369453 21382297 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 76.26 -1.8606303493434 -1.51336493990188 -1.2805127161158 -0.990180484365383 -0.63060581685217 myopathy AR Limited 9127 HGNC:8538 6 4.4680e-09 1.8785e-07 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 SLC7A4 NM_004173 3 21383006 21386850 3844 1908 100 no 5 txStart-txEnd 5'UTR-3'UTR 21383006 21386850 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 74.02 -0.807902299547855 -1.26588610868392 -1.04316708587741 -0.387275128092876 -1.12481109733158 6545 HGNC:11062 6 2.8317e-07 1.0047e-04 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 MIR649 NR_030379 1 21388464 21388561 97 0 0 NA 1 txStart-txEnd UTR 21388464 21388561 esv2760719 22:21383283-21845355 0.0100 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 693234 HGNC:32905 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 P2RX6P NR_002829 1 21396680 21398538 1858 0 0 NA 2 txStart-txEnd UTR 21396680 21398538 esv2760719 22:21383283-21845355 0.0100 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 HGNC:34076 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 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 esv2760719 22:21383283-21845355 0.0100 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 400891 HGNC:34301 full=5
22_18894836_21464119_DEL_1 22 18894836 21464119 -2569284 DEL Di George syndrom Pathogenic NA split q11.21 BCRP2 NR_037566 1 21457304 21476575 6815 0 0 NA 6 txStart-intron1 UTR 6098 3' 21457304 21464119 esv2760719 22:21383283-21845355 0.0100 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 HGNC:1015 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA full p16.3-p16.1 ZNF595;ZNF718;ZNF876P;ZNF732;ZNF141;MIR571;ABCA11P;ZNF721;PIGG;TMEM271;LOC105374338;PDE6B;PDE6B-AS1;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;NICOL1;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;LOC128125818;JAKMIP1-DT;WFS1;PPP2R2C;MAN2B2;MRFAP1;LINC02482;MRFAP1L2;LINC02481;S100P;MRFAP1L1;BLOC1S4;KIAA0232;TBC1D14;LOC100129931;CFAP184;TADA2B;GRPEL1;LINC02447;SORCS2;MIR4798;PSAPL1;MIR4274;AFAP1-AS1;AFAP1;LOC389199;ABLIM2;MIR95;SH3TC1;HTRA3;LINC02517;ACOX3;TRMT44;GPR78;CPZ;LOC101928532;HMX1;FAM90A26;USP17L10;USP17L11;USP17L12;USP17L13;USP17L15;USP17L17;USP17L18;USP17L19;USP17L20;USP17L21;USP17L22;USP17L24;USP17L25;USP17L26;USP17L5;USP17L27;USP17L28;USP17L29;USP17L9P;USP17L30;USP17L6P DEFB131A 155 ACACA (morbid/RE=mTL_miRNA);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);ARL6IP1 (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);FBXO22 (morbid/RE=mTL_miRNA);FICD (morbid/RE=mTL_miRNA);FLCN (HI=3/morbid/RE=mTL_miRNA);FLVCR1 (morbid/RE=mTL_miRNA);FOXC1 (HI=3/morbid/RE=mTL_miRNA);FOXP2 (HI=3/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)... Retinitis_pigmentosa_40;Retinitis_pigmentosa|Retinitis_pigmentosa_40 HP:0000547 CLN:28147;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;4:619584-619655;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) 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;Cherubism, 118400 (3) AD;Congenital disorder of glycosylation type 1EE with or without immunodeficiency, 621140 (3) AR;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;Ellis-van_Creveld_syndrome|Curry-Hall_syndrome;Fetal akinesia deformation sequence 3, 618389 (3) AR;Myasthenic syndrome, congenital, 10, 254300 (3) AR;Fetal_akinesia_deformation_sequence_1|Congenital_myasthenic_syndrome_10|Fetal_akinesia_deformation_sequence_3;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:0001989 CLN:1313135;CLN:2672009;CLN:2834164;CLN:3496433;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:MAN2B2;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;4:1873121-1983919;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;4:3478201-3482971;4:3478271-3491403;4:3486271-3496209;4:3487104-3487370;4:3487247-3495248;4:3487257-3487395;4:3487257-3495238;4:3494467-3495228;4:3494950-3495048;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;4:6576916-6625089;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 1051 4p_partial_monosomy_syndrome;Abnormality_of_the_nervous_system;Achondroplasia;Autosomal_dominant_nonsyndromic_hearing_loss;Autosomal_dominant_nonsyndromic_hearing_loss_6;Autosomal_recessive_retinitis_pigmentosa;BLOOD_GROUP,_EMM_SYSTEM;Bell-shaped_thorax;Bowed_humerus;Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome;Carcinoma_of_colon;Cataract_41;Cervical_cancer;Colorectal_cancer;Cone-rod_dystrophy;Congenital_Stationary_Night_Blindness,_Dominant;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_disorder;Developmental_and_epileptic_encephalopathy,_63;Diabetes_mellitus;Disproportionate_short-limb_short_stature;EVC-related_disorder;EVC2-related_disorder;Ellis-van_Creveld_syndrome;Emm-null_phenotype;Epidermal_nevus;FGFR3-related_chondrodysplasia;FGFR3-related_disorder;Facial_asymmetry;Familial_hypokalemia-hypomagnesemia;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;Huntington_disease;Hurler_syndrome;Hypochondroplasia;Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome;Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome;IDUA-related_core_myopathy;IDUA-related_disorder;Inborn_genetic_diseases;Infantile_axial_hypotonia;Intellectual_disability,_autosomal_recessive_53;Interstitial_pneumonitis;Isolated_microphthalmia_6;Jeune_thoracic_dystrophy;LADD_syndrome_1;Lacrimoauriculodentodigital_syndrome_2;Larsen_syndrome;Leber_congenital_amaurosis;Lethal_short-limbed_short_stature;Levy-Hollister_syndrome;Lower_limb_undergrowth;MSX1-related_disorder;Malignant_tumor_of_testis;Malignant_tumor_of_urinary_bladder;Meniere_disease;Mucopolysaccharidosis;Mucopolysaccharidosis,_MPS-I-H/S;Mucopolysaccharidosis,_MPS-I-S;Mucopolysaccharidosis,_MPS-IV-A;Mucopolysaccharidosis_type_1;Muenke_syndrome;Multiple_myeloma;Myopia_23,_autosomal_recessive;NSD2-related_disorder;Narrow_chest;Neurodevelopmental_delay;Nonsyndromic_genetic_hearing_loss;Optic_atrophy;PDE6B-related_disorder;PIGG-related_disorder;Rare_genetic_deafness;Rauch-Steindl_syndrome;Retinal_dystrophy;Retinitis_pigmentosa;Retinitis_pigmentosa_40;Rett_syndrome;SH3BP2-related_disorder;Saethre-Chotzen_syndrome;Seborrheic_keratosis;See_cases;Seizure;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;Smith-Magenis_Syndrome-like;Spermatocytic_seminoma;Squamous_cell_lung_carcinoma;Syndromic_intellectual_disability;Thanatophoric_dysplasia;Thanatophoric_dysplasia,_type_2;Thanatophoric_dysplasia_type_1;Tooth_agenesis,_selective,_1;Type_2_diabetes_mellitus;Type_IV_short_rib_polydactyly_syndrome;Tyrosinase-positive_oculocutaneous_albinism;Unilateral_renal_agenesis;Upper_limb_undergrowth;WFS1-Related_Spectrum_Disorders;WFS1-related_disorder;WFS1-spectrum_disorder;Wolf-Hirschhorn_like_syndrome;Wolfram-like_syndrome;Wolfram_syndrome;Wolfram_syndrome_1;not_specified 4:73133-74170 gnomAD-SV_v2.1_DUP_4_10814;4:401040-401369 1000g;4:672926-673080 IMH;4:708497-709963 IMH;4:926067-926498 DDD:12703;4:1019871-1020098 IMH;4:1140854-1142502 IMH;4:1276634-1277595 IMH;4:1366480-1366685 IMH;4:1498576-1499359 IMH;4:2338395-2338550 IMH;4:2804337-2804397 gnomAD-SV_v2.1_DUP_4_10976;4:3059771-3069815 IMH;4:3060202-3069689 1000g;4:3331379-3331542 IMH;4:3446698-3451946 esv3599430;4:3467435-3474409 dgv972e214;4:3467915-3474537 IMH;4:3805045-3805107 gnomAD-SV_v2.1_DUP_4_11034;4:3970050-4129749 DDD:12785... 4:12282-121562 esv2763806;4:138871-148818 1000g;4:548827-549483 IMH;4:672946-673060 gnomAD-SV_v2.1_DUP_4_10858;4:897767-898589 IMH;4:970627-980630 dgv1450e212;4:1048391-1049187 IMH;4:1276082-1277452 IMH;4:1310419-1311557 IMH;4:1388217-1388850 IMH;4:1526044-1526309 IMH;4:2338396-2338717 IMH;4:3057000-3066000 gnomAD-SV_v2.1_DUP_4_10988;4:3059780-3069806 gnomAD-SV_v2.1_DUP_4_10989;4:3331378-3331542 gnomAD-SV_v2.1_DUP_4_10996;4:3446698-3451946 1000g;4:3467435-3474409 1000g;4:3467914-3474537 gnomAD-SV_v2.1_DUP_4_11003;4:3477856-3478071 IMH;4:3816480-3816984 IMH... 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... 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 3.21047317301589 5.41905620095129 194648;616918;180072;605032;610130;252800;612041;602618;614632;134934;604407;602952;610647;602104;102680;613004;610285;104225;142983;607261;604831;606201;618899;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 (155 genes, +0.90);5F (+0.00) 5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 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 esv2763806 4:12282-121562 0.0100 dbVar chr4:67914-130131;chr4:69000-224200 0.01 93 -2.08573739588537 -0.684191486481177 152687 HGNC:27196 6 3.0550e-01 1.7753e-05 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 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 chr4:69000-224200;chr4:72279-204237 0.01 255403 HGNC:26889 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 ZNF876P NR_027481 1 206388 249774 43386 0 0 NA 2 txStart-txEnd UTR 206388 249774 dbVar chr4:127000-307000 0.01 642280 HGNC:32472 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 ZNF732 NM_001137608 3 264463 299263 34800 1758 100 no 4 txStart-txEnd 5'UTR-3'UTR 264463 299263 dbVar chr4:127000-307000 0.01 90.28 0.287750339613682 0.450417704041247 0.400052517453145 -1.34614550091757 -3.06736199452323 654254 HGNC:37138 7 9.8159e-02 1.3118e-09 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 ZNF141 NM_003441 4 331602 378657 47055 1425 100 no 4 txStart-txEnd 5'UTR-3'UTR 331602 378657 30 89.36 -0.117374836114298 -1.63248668554434 -1.22454087327741 0.724425471954094 -0.520531332003985 polydactyly, postaxial, type A6;postaxial polydactyly type A AR Limited;Supportive 23160277;26394607[PMID]_23160277[PMID] 7700 HGNC:12926 194648 ?Polydactyly, postaxial, type A6, 615226 (3) AR AR yes 7 1.0393e-01 1.6189e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 MIR571 NR_030297 1 343945 344041 96 0 0 NA 1 txStart-txEnd UTR 343945 344041 dbVar chr4:325395-351492 0.01 693156 HGNC:32827 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 ABCA11P NR_002451 2 419223 467998 48775 0 0 NA 3 txStart-txEnd UTR 419223 467998 79963 HGNC:31 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 ZNF721 NM_133474 4 433776 492945 59169 2772 100 no 3 txStart-txEnd 5'UTR-3'UTR 433776 492945 96.95 -1.7693057852588 -2.76319865584382 170960 HGNC:29425 9 9.4789e-02 5.9729e-11 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 PIGG NM_001127178 3 492998 533989 40991 2952 100 no 13 txStart-txEnd 5'UTR-3'UTR 492998 533989 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, 616917 (3) AR;Blood group, EMM system, 619812 (3) AR dbVar:nssv17683620;dbVar:nssv17974578;dbVar:nssv17976464;dbVar:nssv17976477;dbVar:nssv18791534;dbVar:nssv18791536;dbVar:nssv18791537;dbVar:nssv18791538;morbid:PIGG 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 61 BLOOD_GROUP,_EMM_SYSTEM;Emm-null_phenotype;Inborn_genetic_diseases;Intellectual_disability,_autosomal_recessive_53;PIGG-related_disorder 73.18 0.208571775574472 -1.00399823985698 -0.667367098831187 1.49327706340249 -0.0905757042419409 intellectual disability, autosomal recessive 53 AR Definitive;Strong 26996948;28581210;28771251 54872 HGNC:25985 616918 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, 616917 (3) AR;[Blood group, EMM system], 619812 (3) AR AR yes 5 5.4258e-15 8.7751e-07 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 TMEM271 NM_001362796 2 567668 570084 2416 1158 83 no 1 txStart-txEnd 5'UTR-3'UTR 567668 570084 112441426 HGNC:53639 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 LOC105374338 NR_148199 1 570956 578655 7699 0 0 NA 3 txStart-txEnd UTR 570956 578655 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 PDE6B NM_000283 4 619361 664571 45210 2565 100 no 22 txStart-txEnd 5'UTR-3'UTR 619361 664571 Retinitis_pigmentosa_40;Retinitis_pigmentosa|Retinitis_pigmentosa_40 HP:0000547 CLN:28147;CLN:801370;dbVar:nssv15161020 4:619584-619584;4:619584-619655;4:619590-619662 Night blindness, congenital stationary, AD 2, 163500 (3) AD;Retinitis pigmentosa-40, 613801 (3) AR dbVar:nssv16213572;dbVar:nssv16213637;dbVar:nssv17171376;dbVar:nssv17171923;dbVar:nssv18788927;dbVar:nssv18788928;morbid:PDE6B 4:619417-619883;4:646966-664571;4:647642-648677;4:651220-652826;4:652722-656427;4:652742-656407;4:660321-661795 96 Autosomal_recessive_retinitis_pigmentosa;Cone-rod_dystrophy;Congenital_Stationary_Night_Blindness,_Dominant;Congenital_stationary_night_blindness_autosomal_dominant_2;Leber_congenital_amaurosis;PDE6B-related_disorder;Retinal_dystrophy;Retinitis_pigmentosa;Retinitis_pigmentosa_40;See_cases;Tyrosinase-positive_oculocutaneous_albinism 31.26 -1.62508422066579 -0.147567114346182 -0.732640703348332 -0.18186725937295 -0.360251650665831 congenital stationary night blindness;congenital stationary night blindness autosomal dominant 2;retinitis pigmentosa;retinitis pigmentosa 40 AD;AR Definitive;Limited;Strong;Supportive 12641462;17044014;19578023;20301590[PMID];22334370;22968130;24265693;24760071;24938718;25472526;26667666;28559085;30646425;8075643;8075643[PMID];8394174;8595886 5158 HGNC:8786 180072 Night blindness, congenital stationary, AD 2, 163500 (3) AD;Retinitis pigmentosa-40, 613801 (3) AR AD;AR yes 6 2.6155e-27 1.6257e-13 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 PDE6B-AS1 NR_183810 1 646693 648989 2296 0 0 NA 3 txStart-txEnd UTR 646693 648989 dbVar:nssv17171376 4:647642-648677 12 Autosomal_recessive_retinitis_pigmentosa;Congenital_stationary_night_blindness_autosomal_dominant_2;Leber_congenital_amaurosis;Retinal_dystrophy;Retinitis_pigmentosa;Retinitis_pigmentosa_40;See_cases 101928521 HGNC:40438 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 ATP5ME NM_007100 4 666224 668065 1841 210 100 no 4 txStart-txEnd 5'UTR-3'UTR 666224 668065 521 HGNC:846 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 MYL5 NM_001395441 1 668330 675817 7487 522 100 no 9 txStart-txEnd 5'UTR-3'UTR 668330 675817 77.92 -2.62354415217069 -2.53125239294469 -2.47162789907313 -0.841325117744977 -1.07172517579562 4636 HGNC:7586 9 8.4023e-14 4.4299e-08 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 SLC49A3 NM_001294341 2 675617 682940 7323 1683 100 no 10 txStart-txEnd 5'UTR-3'UTR 675617 682940 84179 HGNC:26177 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 PCGF3 NM_001317836 3 699620 763877 64257 729 100 no 12 txStart-txEnd 5'UTR-3'UTR 699620 763877 41.81 1.08104400698142 0.21167380707342 0.50450224433182 -1.15521787576548 2.22110482517757 10336 HGNC:10066 1 9.5326e-01 9.4340e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 PCGF3-AS1 NR_171661 1 754230 775637 21407 0 0 NA 3 txStart-txEnd UTR 754230 775637 100129917 HGNC:56108 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 CPLX1 NM_006651 4 778744 819917 41173 405 100 no 4 txStart-txEnd 5'UTR-3'UTR 778744 819917 Developmental and epileptic encephalopathy 63, 617976 (3) AR morbid:CPLX1 4:778745-819917 1 Developmental_and_epileptic_encephalopathy,_63 57.56 0.307891021887021 -0.276081088005473 -0.0592308346427654 -0.123982055433658 0.739036799993362 developmental and epileptic encephalopathy, 63;familial infantile myoclonic epilepsy AR Strong;Supportive 11163241;26539891;28422131;28422131[PMID] 10815 HGNC:2309 605032 Developmental and epileptic encephalopathy 63, 617976 (3) AR AR yes 2 8.2499e-01 7.9579e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 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 66.55 1.00920516918233 -1.32268830826731 -0.753758448502777 -1.09712093422474 -0.06853474623291 2580 HGNC:4113 1 5.1818e-03 9.7313e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 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 72.33 0.68130369659025 -0.684900012122083 -0.281672783681246 -0.335178666431938 -0.288196719712539 84286 HGNC:28709 6 3.0549e-09 4.3963e-04 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 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 68.02 0.720690705407562 -0.962987167732907 -0.540807434627598 -0.885541042446365 0.113301977907898 1609 HGNC:2856 3 1.7603e-09 1.1940e-03 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 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 21 Hurler_syndrome;IDUA-related_disorder;Interstitial_pneumonitis;Mucopolysaccharidosis;Mucopolysaccharidosis,_MPS-I-H/S;Mucopolysaccharidosis,_MPS-I-S;Mucopolysaccharidosis_type_1;See_cases 74.45 0.0296456908307138 -0.811800830743971 -0.614175007315312 -0.960716353370505 -0.560975494729554 nephrolithiasis susceptibility caused by SLC26A1 AR Limited;Moderate 24250268;27210743 10861 HGNC:10993 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 -9299515 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 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 213 Familial_hypokalemia-hypomagnesemia;Hurler_syndrome;IDUA-related_core_myopathy;IDUA-related_disorder;Inborn_genetic_diseases;Interstitial_pneumonitis;Mucopolysaccharidosis;Mucopolysaccharidosis,_MPS-I-H/S;Mucopolysaccharidosis,_MPS-I-S;Mucopolysaccharidosis,_MPS-IV-A;Mucopolysaccharidosis_type_1;See_cases 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 11735025;21394825;21480867;22976768;23917744;8680403[PMID] 3425 HGNC:5391 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 -9299515 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 chr4:993000-1180000 0.01 0 0 61.34 0.15762668797229 -0.095835364724166 0.0269779205648351 -1.06125182633592 -0.304110728864919 53834 HGNC:3693 3 1.1908e-02 5.8219e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 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 chr4:993000-1180000 0.01 88.48 -1.10887487197032 -0.266612828851805 -0.582493556461374 0.70441463212366 -0.142173437306223 spermatogenic failure 62 AR Limited 25342176;31125047 285498 HGNC:27729 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 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 LOC105374344 NR_134676 1 1107426 1126763 19337 0 0 NA 3 txStart-txEnd UTR 1107426 1126763 dbVar chr4:993000-1180000 0.01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 TMED11P NR_033768 1 1108984 1116952 7968 0 0 NA 4 txStart-txEnd UTR 1108984 1116952 dbVar chr4:993000-1180000 0.01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 SPON2 NM_001199021 2 1160719 1202632 41913 996 100 no 8 txStart-txEnd 5'UTR-3'UTR 1160719 1202632 77.93 0.386184284132793 -0.507819648222944 -0.233252267365632 0.982292085246316 0.77606556285772 10417 HGNC:11253 9 2.6609e-15 1.0881e-06 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 LOC100130872 NR_024569 1 1189570 1202750 13180 0 0 NA 4 txStart-txEnd UTR 1189570 1202750 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 CTBP1-AS NR_104331 1 1203907 1212379 8472 0 0 NA 6 txStart-txEnd UTR 1203907 1212379 1 Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome;Inborn_genetic_diseases 285463 HGNC:48337 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 CTBP1 NM_001377186 1 1205232 1242918 37686 1326 100 no 9 txStart-txEnd 5'UTR-3'UTR 1205232 1242918 1 Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome;Inborn_genetic_diseases 30.46 0.372261467334061 -0.687680790971782 -0.398820302991302 -0.219318263143712 4.00265992091985 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome AD Strong 12101226;26480814;27094857;28408745;28955726;30356033;31041561;32075774;36341169;9524128 1487 HGNC:2494 602618 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3) AD AD yes 1 9.8442e-01 9.7976e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 CTBP1-DT NR_033339 1 1243227 1246795 3568 0 0 NA 2 txStart-txEnd UTR 1243227 1246795 92070 HGNC:28307 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 MAEA NM_001017405 3 1283678 1333925 50247 1191 100 no 9 txStart-txEnd 5'UTR-3'UTR 1283678 1333925 7.13 0.506320833777115 -1.33825481458672 -0.894129278429717 -0.194585519191658 3.59552380294204 10296 HGNC:13731 2 2.2741e-01 8.4486e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 UVSSA NM_001317934 2 1340995 1381837 40842 2130 100 no 14 txStart-txEnd 5'UTR-3'UTR 1340995 1381837 UV-sensitive syndrome 3, 614640 (3) AR morbid:UVSSA 4:1340996-1381837 2 30 81.41 -1.108132588085 -3.07621828146639 UV-sensitive syndrome;UV-sensitive syndrome 3 AR Strong;Supportive 22466610;22466610[PMID]_22466611[PMID]_22466612[PMID] 57654 HGNC:29304 614632 UV-sensitive syndrome 3, 614640 (3) AR AR yes 7 5.4127e-25 8.8875e-14 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 NKX1-1 NM_001290079 1 1396719 1400230 3511 1347 100 no 2 txStart-txEnd 5'UTR-3'UTR 1396719 1400230 80.2 2.60422559153241 2.66896012411798 54729 HGNC:24975 3 7.1465e-01 1.8842e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 FAM53A NM_001174070 3 1641613 1686040 44427 1197 100 no 5 txStart-txEnd 5'UTR-3'UTR 1641613 1686040 86.49 -0.576730190868019 -0.56780381579822 152877 HGNC:31860 6 3.5705e-03 3.0070e-05 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 SLBP NM_006527 4 1694457 1714046 19589 813 100 no 8 txStart-txEnd 5'UTR-3'UTR 1694457 1714046 dbVar chr4:1663278-1724970 0.01 41.08 -0.996144409589105 -0.44060461568473 -0.660904930034766 -0.443208130978936 0.50373477013136 7884 HGNC:10904 4 6.8148e-02 5.1566e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 TMEM129 NM_001127266 2 1717678 1723050 5372 1089 100 no 4 txStart-txEnd 5'UTR-3'UTR 1717678 1723050 dbVar chr4:1663278-1724970 0.01 60.14 1.8774465029651 0.292414150336672 92305 HGNC:25137 8 2.3074e-11 1.5746e-06 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 TACC3 NM_006342 3 1723247 1746898 23651 2517 100 no 16 txStart-txEnd 5'UTR-3'UTR 1723247 1746898 92.5 -0.738565549612952 -1.04002887445022 -0.98783763752124 -1.00228696058413 -1.35276544118498 10460 HGNC:11524 3 2.7082e-07 9.1952e-02 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 FGFR3 NM_001163213 2 1795019 1810594 15575 2427 100 no 18 txStart-txEnd 5'UTR-3'UTR 1795019 1810594 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 morbid:FGFR3 4:1795020-1810594 39 Abnormality_of_the_nervous_system;Achondroplasia;Bell-shaped_thorax;Bowed_humerus;Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome;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_chondrodysplasia;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;LADD_syndrome_1;Lacrimoauriculodentodigital_syndrome_2;Larsen_syndrome;Lethal_short-limbed_short_stature;Levy-Hollister_syndrome;Lower_limb_undergrowth;Malignant_tumor_of_testis;Malignant_tumor_of_urinary_bladder;Muenke_syndrome;Multiple_myeloma;Narrow_chest;Neurodevelopmental_delay;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_lung_carcinoma;Thanatophoric_dysplasia;Thanatophoric_dysplasia,_type_2;Thanatophoric_dysplasia_type_1;Unilateral_renal_agenesis;Upper_limb_undergrowth;not_specified 0 0 6.4 -0.683349552436101 -0.392116289350703 -0.538573860699497 -2.22163439002498 1.36559781959522 Crouzon syndrome-acanthosis nigricans syndrome;LADD syndrome;LADD syndrome 1;Muenke syndrome;achondroplasia;camptodactyly-tall stature-scoliosis-hearing loss syndrome;hypochondroplasia;isolated brachycephaly;isolated plagiocephaly;severe achondroplasia-developmental delay-acanthosis nigricans syndrome;thanatophoric dysplasia type 1;thanatophoric dysplasia type 2 AD;AR;sD Definitive;Limited;Moderate;Strong;Supportive 10053006;10053006[PMID]_18076102[PMID];10671061;10696568;10914960[PMID];11406607;11467490;15909185;16441300;16501574;16501574[PMID];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;7670477;7773297;7847369;7913883;8078586;8630492;8640234;8845844;8880573;8880574;9042914;9279753;9300656;9450868;9580776 2261 HGNC:3690 134934 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 AD;AD,AR yes 3 1.6432e-05 2.9091e-03 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 LETM1 NM_012318 3 1813205 1857883 44678 2220 100 no 14 txStart-txEnd 5'UTR-3'UTR 1813205 1857883 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, 620089 (3) AR morbid:LETM1 4:1813206-1857883 0 0 63.78 0.214548231055587 -0.175454101774909 -0.0279109913872425 -1.46983950545222 1.90036967420169 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction;neurodevelopmental disorder AR Moderate;Strong 26960370;27287194;30378700;30773800;36055214 3954 HGNC:6556 604407 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, 620089 (3) AR AR yes 3 1.2141e-06 8.1055e-02 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 NSD2 NM_001042424 3 1873119 1983919 110800 4098 100 no 22 txStart-txEnd 5'UTR-3'UTR 1873119 1983919 Rauch-Steindl syndrome, 619695 (3) AD HI3:NSD2;morbid:NSD2 4:1873121-1983919;4:1902353-1950545 32 4p_partial_monosomy_syndrome;Global_developmental_delay;Inborn_genetic_diseases;NSD2-related_disorder;Neurodevelopmental_delay;Rauch-Steindl_syndrome;Syndromic_intellectual_disability;Wolf-Hirschhorn_like_syndrome 3 0 Rauch-Steindl syndrome;Wolf-Hirschhorn syndrome;syndromic intellectual disability AD Definitive;Strong 19483677;26633542;28600779;29760529;29892088;30244530;30345613;31171569;9618163 7468 HGNC:12766 602952 Rauch-Steindl syndrome, 619695 (3) AD AD yes full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 SCARNA22 NR_003004 1 1976362 1976487 125 0 0 NA 1 txStart-txEnd UTR 1976362 1976487 677770 HGNC:32580 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 NELFA NM_005663 5 1984449 2010701 26252 1587 100 no 11 txStart-txEnd 5'UTR-3'UTR 1984449 2010701 0 0 62.86 0.0789021097033232 0.586448065563417 0.486612084123194 -0.704500724266535 2.35326609523799 7469 HGNC:12768 2 1.3469e-01 1.6689e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 MIR943 NR_030641 1 1988110 1988204 94 0 0 NA 1 txStart-txEnd UTR 1988110 1988204 100126332 HGNC:33689 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 NICOL1 NM_001141936 3 2043721 2045691 1970 288 100 no 4 txStart-txEnd 5'UTR-3'UTR 2043721 2045691 401115 HGNC:34437 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 NAT8L NM_178557 4 2061053 2070816 9763 909 100 no 3 txStart-txEnd 5'UTR-3'UTR 2061053 2070816 30 0 40.87 0.098456637925367 0.547035422647778 0.555421231184509 -0.17378562567541 2.72200675038499 N-acetylaspartate deficiency AR Limited 11310630;15328569;16802720;19807691;26511242 339983 HGNC:26742 610647 ?N-acetylaspartate deficiency, 614063 (3) AR AR yes 2 8.6458e-01 3.2468e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 POLN NM_181808 4 2073644 2243848 170204 2703 100 no 26 txStart-txEnd 5'UTR-3'UTR 2073644 2243848 74.11 1.28008098953073 -0.213680271829885 0.298427608261686 0.0230368692484615 -1.08931776314455 353497 HGNC:18870 7 9.4880e-41 2.9966e-32 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 HAUS3 NM_001303143 2 2230075 2243848 13773 1812 100 no 6 txStart-txEnd 5'UTR-3'UTR 2230075 2243848 46.58 0.701548607121356 -0.365908352795815 0.0332648069020548 -0.527208917402428 -2.11601983727089 79441 HGNC:28719 6 1.2992e-09 8.8992e-07 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 MXD4 NM_006454 3 2249158 2263836 14678 630 100 no 6 txStart-txEnd 5'UTR-3'UTR 2249158 2263836 51.38 0.152551047660427 -0.352633837012323 -0.186392860565083 -0.362920265024982 1.29214097300775 10608 HGNC:13906 2 7.7635e-01 8.9694e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 MIR4800 NR_039964 1 2251803 2251883 80 0 0 NA 1 txStart-txEnd UTR 2251803 2251883 100616358 HGNC:41877 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 ZFYVE28 NM_020972 3 2271323 2420372 149049 2664 100 no 13 txStart-txEnd 5'UTR-3'UTR 2271323 2420372 65.21 -0.00272190900027315 -0.788064481059993 -0.590406277851698 -0.457051628812482 -0.248524904723244 57732 HGNC:29334 2 7.2340e-02 8.8846e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 CFAP99 NM_001193282 4 2420681 2464729 44048 1941 100 no 16 txStart-txEnd 5'UTR-3'UTR 2420681 2464729 402160 HGNC:51180 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 RNF4 NM_002938 5 2470832 2517584 46752 573 100 no 8 txStart-txEnd 5'UTR-3'UTR 2470832 2517584 46.49 0.675314441657105 -0.278968200252929 0.0738937137831485 0.142993789011855 1.01071894719792 6047 HGNC:10067 2 7.9973e-01 6.2895e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 FAM193A NM_001366318 2 2538373 2734300 195927 4548 100 no 21 txStart-txEnd 5'UTR-3'UTR 2538373 2734300 63.75 0.047435784931723 0.578303279433319 0.446297134803958 -0.738211104213101 1.24551033534962 8603 HGNC:16822 0 9.9993e-01 9.9782e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 TNIP2 NM_024309 4 2743374 2758063 14689 1290 100 no 6 txStart-txEnd 5'UTR-3'UTR 2743374 2758063 81.36 0.00376891322505335 0.175301121417126 0.165045961017247 0.837642525932054 1.18082169671465 79155 HGNC:19118 3 1.5926e-03 2.9733e-06 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 SH3BP2 NM_001145856 2 2819896 2842823 22927 1857 100 no 13 txStart-txEnd 5'UTR-3'UTR 2819896 2842823 Cherubism, 118400 (3) AD morbid:SH3BP2 4:2820541-2842823 8 Fibrous_dysplasia_of_jaw;SH3BP2-related_disorder 63.94 0.0147924168443993 -0.755069155443864 -0.557230884715189 -0.774788091773142 0.0928341710725898 cherubism AD Strong;Supportive 11381256;12900899;17147794;17321449;17368082;19038533;22153076;22153077;22640988;24382142;24916406;26064398;NULL 6452 HGNC:10825 602104 Cherubism, 118400 (3) AD AD yes 6 1.1560e-11 3.1019e-03 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 ADD1 NM_001354761 2 2845570 2931789 86219 2400 100 no 16 txStart-txEnd 5'UTR-3'UTR 2845570 2931789 IMH 4:2823210-17706072 0.0144 46.84 0.415100440885564 -0.0353582367682211 0.160620922610348 1.55687904782076 0.599493733703596 118 HGNC:243 102680 (Hypertension, essential, salt-sensitive), 145500 (3) Multifactorial Multifactorial yes 1 9.8830e-01 6.1130e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 MFSD10 NM_001410703 1 2932293 2936552 4259 1443 100 no 12 txStart-txEnd 5'UTR-3'UTR 2932293 2936552 IMH 4:2823210-17706072 0.0144 74.85 0.411355639726539 0.128499204561582 0.297239579860913 -3.22135273058939 -2.0505953640051 10227 HGNC:16894 7 7.3331e-11 3.0178e-07 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 NOP14-AS1 NR_015453 2 2937272 2952805 15533 0 0 NA 4 txStart-txEnd UTR 2937272 2952805 IMH 4:2823210-17706072 0.0144 317648 HGNC:20205 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 NOP14 NM_001291978 2 2939662 2965133 25471 2574 100 no 18 txStart-txEnd 5'UTR-3'UTR 2939662 2965133 IMH 4:2823210-17706072 0.0144 76.1 -0.287444310372334 -1.08649031284551 8602 HGNC:16821 2 2.1363e-06 1.7449e-02 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 GRK4 NM_182982 3 2965297 3042487 77190 1737 100 no 16 txStart-txEnd 5'UTR-3'UTR 2965297 3042487 IMH 4:2823210-17706072 0.0144 77.79 -1.99297870008351 -1.29609278714656 -1.46605851541056 -0.226834639209249 -0.865456519909477 2868 HGNC:4543 6 1.6286e-15 5.6904e-07 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 HTT-AS NR_045414 2 3047865 3076351 28486 0 0 NA 4 txStart-txEnd UTR 3047865 3076351 IMH 4:2823210-17706072 0.0144 100750326 HGNC:37118 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 HTT NM_002111 8 3076407 3245687 169280 9429 100 no 67 txStart-txEnd 5'UTR-3'UTR 3076407 3245687 Huntington disease, 143100 (3) AD;Lopes-Maciel-Rodan syndrome, 617435 (3) AR morbid:HTT 4:3076408-3245687 4 Huntington_disease IMH 4:2823210-17706072 0.0144 7.59 -0.672019089975884 1.20702378077388 0.455761090475751 -0.292338464564844 2.75557960790302 Huntington disease;Lopes-Maciel-Rodan syndrome;juvenile Huntington disease AD;AR Definitive;Limited;Strong;Supportive 11264541;17181545[PMID];20301482[PMID]_21566141[PMID];248284;26740508;27329733;7550343;7618107;7774020;8401587;8458085 3064 HGNC:4851 613004 Huntington disease, 143100 (3) AD;Lopes-Maciel-Rodan syndrome, 617435 (3) AR AD;AR yes yes 0 1.0000e+00 1.0000e+00 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 MSANTD1 NM_001042690 2 3250885 3258340 7455 837 100 no 3 txStart-txEnd 5'UTR-3'UTR 3250885 3258340 IMH 4:2823210-17706072 0.0144 38.82 0.0606051954062481 0.881143579184346 345222 HGNC:33741 2 8.0456e-01 3.2217e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 RGS12 NM_001394155 1 3287617 3441640 154023 4344 100 no 18 txStart-txEnd 5'UTR-3'UTR 3287617 3441640 IMH 4:2823210-17706072 0.0144 76.68 0.764664139864726 0.714317785060336 0.923141277111761 -0.25533666429365 0.674471945471649 6002 HGNC:9994 3 4.0922e-09 5.6037e-04 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 HGFAC NM_001297439 2 3443694 3451213 7519 1989 100 no 15 txStart-txEnd 5'UTR-3'UTR 3443694 3451213 IMH 4:2823210-17706072 0.0144 76.94 -2.62354415217069 0.291115018050139 -2.47162789907313 -2.1421417021426 -1.44878648893363 3083 HGNC:4894 4 1.9843e-08 5.2082e-07 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 DOK7 NM_001301071 2 3465032 3503209 38177 1827 100 no 10 txStart-txEnd 5'UTR-3'UTR 3465032 3503209 Fetal akinesia deformation sequence 3, 618389 (3) AR;Myasthenic syndrome, congenital, 10, 254300 (3) AR;Fetal_akinesia_deformation_sequence_1|Congenital_myasthenic_syndrome_10|Fetal_akinesia_deformation_sequence_3 HP:0001989 CLN:2834164;CLN:3496433;dbVar:nssv15130945;dbVar:nssv15131476;dbVar:nssv15770186;dbVar:nssv16213451;dbVar:nssv16214333;dbVar:nssv17971686;dbVar:nssv17972166;dbVar:nssv17976550;dbVar:nssv18786333;dbVar:nssv18790180;morbid:DOK7 4:3465094-3495238;4:3465104-3465298;4:3475114-3491543;4:3478201-3482971;4:3478271-3491403;4:3486271-3496209;4:3487104-3487370;4:3487247-3495248;4:3487257-3487395;4:3487257-3495238;4:3494467-3495228;4:3494950-3495048;4:3495083-3495158 76 Congenital_myasthenic_syndrome;Congenital_myasthenic_syndrome_10;DOK7-related_disorder;Fetal_akinesia_deformation_sequence_1;Fetal_akinesia_deformation_sequence_3;Inborn_genetic_diseases;Rett_syndrome;See_cases IMH 4:2823210-17706072 0.0144 30 75.35 -2.68253992069213 -3.72411383897722 congenital myasthenic syndrome 10;fetal akinesia deformation sequence 1;fetal akinesia deformation sequence 3;postsynaptic congenital myasthenic syndrome AR Definitive;Limited;Strong;Supportive 16794080;16917026;17439981;18626973;19261599;19261599[PMID];20147321;20301347[PMID];29395672;31453852;32360404 285489 HGNC:26594 610285 Fetal akinesia deformation sequence 3, 618389 (3) AR;Myasthenic syndrome, congenital, 10, 254300 (3) AR AR yes 5 1.0263e-04 4.8084e-03 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 LRPAP1 NM_002337 4 3505338 3534149 28811 1074 100 no 8 txStart-txEnd 5'UTR-3'UTR 3505338 3534149 Myopia 23, AR, 615431 (3) AR morbid:LRPAP1 4:3505339-3534149 2 Myopia_23,_autosomal_recessive IMH 4:2823210-17706072 0.0144 30 81.97 -0.901439467568047 -1.0008332959639 -1.03424805406881 -0.233147203181143 -1.38131789177637 myopia 23, autosomal recessive AR Limited;Strong 23830514;25525168 4043 HGNC:6701 104225 Myopia 23, AR, 615431 (3) AR AR yes 6 4.4951e-07 6.0843e-03 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 LINC00955 NR_040045 1 3578595 3592712 14117 0 0 NA 3 txStart-txEnd UTR 3578595 3592712 IMH 4:2823210-17706072 0.0144 93.6 285492 HGNC:26644 8 4.5772e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 LINC02171 NR_034136 1 3675319 3679582 4263 0 0 NA 3 txStart-txEnd UTR 3675319 3679582 IMH 4:2823210-17706072 0.0144 100133461 HGNC:53033 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 ADRA2C NM_000683 4 3768111 3770253 2142 1389 72 no 1 txStart-txEnd 5'UTR-3'UTR 3768111 3770253 IMH 4:2823210-17706072 0.0144 68.35 3.21047317301589 5.41905620095129 152 HGNC:283 3 5.0159e-01 6.4595e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 FAM86EP NR_130740 1 3943486 3957155 13669 0 0 NA 4 txStart-txEnd UTR 3943486 3957155 dbVar chr4:3894913-4168551;chr4:3897463-4171386;chr4:3906095-3993252;chr4:3923039-4103069 0.01 IMH 4:2823210-17706072 0.0144 348926 HGNC:28017 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 OTOP1 NM_177998 3 4190452 4228656 38204 1839 100 no 6 txStart-txEnd 5'UTR-3'UTR 4190452 4228656 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 80.7 0.337011959699387 0.333342940376347 0.48201697995522 0.532976598896309 -0.342636515952079 133060 HGNC:19656 9 4.8437e-24 7.3147e-16 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 TMEM128 NM_001297551 2 4237268 4249950 12682 498 100 no 5 txStart-txEnd 5'UTR-3'UTR 4237268 4249950 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 73.9 0.701580942281967 -0.111669494459405 85013 HGNC:28201 8 1.9994e-04 1.1006e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 LYAR NM_017816 3 4269427 4291881 22454 1140 100 no 10 txStart-txEnd 5'UTR-3'UTR 4269427 4291881 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 65.63 -1.04982790537607 0.837810587333259 0.0401032398207032 0.075048187998812 -0.816993645198656 55646 HGNC:26021 5 3.7580e-07 1.3245e-04 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 ZBTB49 NM_001330625 2 4291977 4323510 31533 2298 100 no 8 txStart-txEnd 5'UTR-3'UTR 4291977 4323510 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 89.21 -0.48130989574319 0.452744382601107 0.130333981724112 -0.597063638061633 0.18239534186363 166793 HGNC:19883 4 1.3752e-08 9.1642e-03 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 NSG1 NM_001382227 1 4388828 4420785 31957 585 100 no 6 txStart-txEnd 5'UTR-3'UTR 4388828 4420785 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 -0.025549754331335 0.153242929586267 0.138678963648336 0.898629456776545 -0.214997258794035 27065 HGNC:18790 7 8.8286e-03 4.5383e-03 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3-p16.2 STX18 NM_016930 4 4420694 4543775 123081 1008 100 no 11 txStart-txEnd 5'UTR-3'UTR 4420694 4543775 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 39.55 0.843231894587517 0.108678775214296 0.455109011286475 -0.165997903989801 0.517811238015827 53407 HGNC:15942 5 2.4881e-07 1.1678e-06 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.3 STX18-IT1 NR_126434 1 4477847 4483427 5580 0 0 NA 4 txStart-txEnd UTR 4477847 4483427 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2 STX18-AS1 NR_037888 1 4543857 4712665 168808 0 0 NA 6 txStart-txEnd UTR 4543857 4712665 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 100507266 HGNC:48877 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2 SNORD162 NR_145783 1 4666052 4666150 98 0 0 NA 1 txStart-txEnd UTR 4666052 4666150 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 109623454 HGNC:51876 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2 LOC101928279 NR_125892 1 4763486 4789101 25615 0 0 NA 3 txStart-txEnd UTR 4763486 4789101 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2 LINC01396 NR_125765 1 4846163 4852554 6391 0 0 NA 4 txStart-txEnd UTR 4846163 4852554 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2 MSX1 NM_002448 3 4861391 4865663 4272 912 100 no 2 txStart-txEnd 5'UTR-3'UTR 4861391 4865663 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 HI3:MSX1;morbid:MSX1 4:4861392-4865663;4:4861393-4865663 12 Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome;MSX1-related_disorder;Tooth_agenesis,_selective,_1 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 3 0 1.21 0.15460042661567 0.172845644735031 0.256065903692486 1.56448356794936 2.50372489686823 tooth agenesis;tooth agenesis, selective, 1;tooth and nail syndrome AD Definitive;Limited;Strong;Supportive 1054139;10742093;10815578;11369996;11369996[PMID];12097313;15264286;16498076;26502894;4521949;8466837;8469557;8696335;9742121;NULL 4487 HGNC:7391 142983 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 AD yes 5 1.6517e-01 2.7536e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2 LOC101928306 NR_125893 1 4922534 4990398 67864 0 0 NA 3 txStart-txEnd UTR 4922534 4990398 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2 CYTL1 NM_018659 3 5016312 5021185 4873 411 100 no 4 txStart-txEnd 5'UTR-3'UTR 5016312 5021185 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 76.44 -0.6295570831736 0.0670299843738293 -0.200045256499347 0.45277691276168 0.0974901129923348 54360 HGNC:24435 9 1.0733e-05 6.5277e-04 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2 STK32B NM_018401 3 5053206 5502716 449510 1245 100 no 12 txStart-txEnd 5'UTR-3'UTR 5053206 5502716 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 39.31 -0.246593908057665 0.0285262483698947 -0.063872653370671 -2.65953872619111 -2.04902349969142 55351 HGNC:14217 5 4.9116e-08 4.3235e-03 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2 LINC01587 NR_126519 1 5526295 5529528 3233 0 0 NA 4 txStart-txEnd UTR 5526295 5529528 dbVar chr4:5334999-5780000 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 96.4 10141 HGNC:13716 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2 EVC2 NM_147127 5 5564165 5710286 146121 3927 100 no 22 txStart-txEnd 5'UTR-3'UTR 5564165 5710286 dbVar:nssv17973849 4:5567009-5587839 dbVar:nssv15770321;dbVar:nssv16213046;dbVar:nssv16213271;dbVar:nssv16297119;dbVar:nssv17172955;dbVar:nssv17971266;dbVar:nssv17971361;dbVar:nssv17972056;dbVar:nssv18790018;dbVar:nssv18790020;dbVar:nssv18790021;dbVar:nssv18790022 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 199 Curry-Hall_syndrome;EVC2-related_disorder;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 dbVar chr4:5334999-5780000 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 30 0 74.81 -0.675336787286134 -0.144705826949755 -0.333473000003108 -1.44193705805358 -2.99791740003004 Ellis-van Creveld syndrome;acrofacial dysostosis, Weyers type AD;AR Definitive;Strong;Supportive 16404586;17024374;17547743;19810119;19876929;225500;22616035;23220543;23220543[PMID]_22791528[PMID]_12571802[PMID]_12468274[PMID];23220543[PMID]_22791528[PMID]_16404586[PMID] 132884 HGNC:19747 607261 Ellis-van Creveld syndrome, 225500 (3) AR;Weyers acrofacial dysostosis, 193530 (3) AD AD;AR yes 5 1.0207e-34 1.0533e-21 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2 EVC NM_153717 3 5712927 5816032 103105 2979 100 no 21 txStart-txEnd 5'UTR-3'UTR 5712927 5816032 dbVar:nssv17172169 4:5785270-5803831 ?Weyers acrofacial dysostosis, 193530 (3) AD;Ellis-van Creveld syndrome, 225500 (3) AR;Ellis-van_Creveld_syndrome|Curry-Hall_syndrome 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 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 161 Curry-Hall_syndrome;EVC-related_disorder;Ellis-van_Creveld_syndrome;Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 72.76 -2.57221447207538 -0.38737545040403 -1.26125942639438 -0.471176482163648 -1.41925515956187 Ellis-van Creveld syndrome;acrofacial dysostosis, Weyers type AD;AR Definitive;Limited;Strong;Supportive 10700184;10700184[PMID];17024374;23220543;23220543[PMID]_22791528[PMID]_19744229[PMID]_18947413[PMID];26748586;29321360;30076350;7628126 2121 HGNC:3497 604831 ?Weyers acrofacial dysostosis, 193530 (3) AD;Ellis-van Creveld syndrome, 225500 (3) AR AD;AR yes yes 5 3.4620e-25 8.0150e-08 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2 CRMP1 NM_001014809 3 5822490 5894813 72323 2061 100 no 14 txStart-txEnd 5'UTR-3'UTR 5822490 5894813 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 43.19 -2.45831687825306 -0.486186941840208 -1.27538361497834 0.0326224850029478 2.34696639804313 1400 HGNC:2365 1 9.9173e-01 9.5327e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2 MIR378D1 NR_039608 1 5925001 5925055 54 0 0 NA 1 txStart-txEnd UTR 5925001 5925055 dbVar chr4:5918046-5928942 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 100616201 HGNC:41550 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.2-p16.1 C4orf50 NM_001364689 3 5961101 6020158 59057 4527 100 no 12 txStart-txEnd 5'UTR-3'UTR 5961101 6020158 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 98.01 0.369490376960693 0.371330581311454 0.517389412359409 -2.62911053265251 -1.8079483903393 389197 HGNC:33766 7 7.7361e-19 6.3423e-10 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 JAKMIP1 NM_001099433 2 6027925 6202276 174351 2496 100 no 21 txStart-txEnd 5'UTR-3'UTR 6027925 6202276 1 Smith-Magenis_Syndrome-like IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 52.99 0.975078008148592 0.865866943304307 1.11611247300207 0.172471674763915 3.32151835531883 152789 HGNC:26460 0 9.9986e-01 9.9317e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 LOC128125818 NM_001415001 1 6066703 6071889 5186 138 100 no 2 txStart-txEnd 5'UTR-3'UTR 6066703 6071889 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 JAKMIP1-DT NR_037863 1 6202459 6235663 33204 0 0 NA 4 txStart-txEnd UTR 6202459 6235663 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 285484 HGNC:27728 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 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 142 Autosomal_dominant_nonsyndromic_hearing_loss;Autosomal_dominant_nonsyndromic_hearing_loss_6;Cataract_41;Diabetes_mellitus;Inborn_genetic_diseases;Meniere_disease;Nonsyndromic_genetic_hearing_loss;Optic_atrophy;Rare_genetic_deafness;Retinal_dystrophy;See_cases;Type_2_diabetes_mellitus;WFS1-Related_Spectrum_Disorders;WFS1-related_disorder;WFS1-spectrum_disorder;Wolfram-like_syndrome;Wolfram_syndrome;Wolfram_syndrome_1;not_specified IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 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 11709537;11709538;12073007;12754709;12955714;16151413;16648378;16806192;16806192[PMID]_12913071[PMID];17492394;18544103;20069065;20069065[PMID]_20301750[PMID];20301607[PMID]_24148127[PMID];21446023;21538838;21602428;222300;23531866;23531866[PMID];243330;248846;251462;25250959;27395765;28802351;29529044;31313226;31555371;34014271;35018440;606201 7466 HGNC:12762 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 -9299515 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 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 50.29 0.338434929038259 0.422718688109719 0.476236130280707 -0.54023780146542 4.10111380803453 5522 HGNC:9306 1 8.9954e-01 5.6445e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 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 Congenital disorder of glycosylation type 1EE with or without immunodeficiency, 621140 (3) AR morbid:MAN2B2 4:6576916-6625089 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 83.66 -1.20308868163847 -0.039423685654856 -0.514512683951566 0.311204487601666 -0.733522379663636 MAN2B2 deficiency AR Limited 23324 HGNC:29623 618899 Congenital disorder of glycosylation type 1EE with or without immunodeficiency, 621140 (3) AR AR yes 5 6.5570e-23 4.3573e-18 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 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 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 HGNC:24549 6 3.1404e-01 1.7706e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 LINC02482 NR_134664 1 6672454 6675608 3154 0 0 NA 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 HGNC:53458 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 MRFAP1L2 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 93622 HGNC:25109 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 LINC02481 NR_147207 1 6689174 6692246 3072 0 0 NA 3 txStart-txEnd UTR 6689174 6692246 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 339988 HGNC:27958 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 S100P NM_005980 3 6695604 6698897 3293 288 100 no 2 txStart-txEnd 5'UTR-3'UTR 6695604 6698897 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 89.8 -0.0213485169134644 -0.684657921159283 -0.478383965590741 0.251281715605183 -0.615839346409602 6286 HGNC:10504 9 3.3257e-02 4.8649e-02 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 MRFAP1L1 NM_203462 3 6709427 6711592 2165 384 61 no 2 txStart-txEnd 5'UTR-3'UTR 6709427 6711592 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 84.97 0.629248196007981 0.195831367621135 0.447874019110796 1.72296511806951 0.620681882628763 114932 HGNC:28796 8 2.5481e-03 8.9080e-03 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 BLOC1S4 NM_018366 3 6717900 6719391 1491 654 44 no 1 txStart-txEnd 5'UTR-3'UTR 6717900 6719391 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 72.47 2.75338717063303 1.98938453238048 55330 HGNC:24206 9 1.0151e-01 1.5897e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 KIAA0232 NM_001100590 2 6784453 6885891 101438 4188 100 no 9 txStart-txEnd 5'UTR-3'UTR 6784453 6885891 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 62.19 0.495223937339359 -0.201270287076057 0.0915777485634488 -1.04317795810088 0.185259378880778 9778 HGNC:28992 0 9.9999e-01 9.9472e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 TBC1D14 NM_001113361 2 6911192 7034841 123649 2082 100 no 14 txStart-txEnd 5'UTR-3'UTR 6911192 7034841 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 58.66 0.38643088540431 0.788716334548764 0.774883176364413 -0.521938260031064 1.10884704568458 57533 HGNC:29246 2 3.9267e-02 9.0900e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 LOC100129931 NR_033828 1 7032280 7047958 15678 0 0 NA 4 txStart-txEnd UTR 7032280 7047958 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 CFAP184 NM_153376 3 7042575 7044728 2153 1668 96 no 1 txStart-txEnd 5'UTR-3'UTR 7042575 7044728 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 257236 HGNC:26900 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 TADA2B NM_152293 3 7045098 7059679 14581 1263 100 no 2 txStart-txEnd 5'UTR-3'UTR 7045098 7059679 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 53.19 0.052084742182682 -0.284361515719772 -0.145832700564166 0.664832774210228 4.02698047878354 93624 HGNC:30781 2 7.2366e-01 3.4506e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 GRPEL1 NM_025196 4 7060621 7069791 9170 654 100 no 4 txStart-txEnd 5'UTR-3'UTR 7060621 7069791 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 50.3 0.649976625334672 -1.27240513662323 -0.777477966060391 0.934834224809331 0.303907421223287 80273 HGNC:19696 4 1.3916e-01 8.9627e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 LINC02447 NR_027441 1 7099150 7105103 5953 0 0 NA 2 txStart-txEnd UTR 7099150 7105103 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 730971 HGNC:53379 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 SORCS2 NM_020777 3 7194264 7744554 550290 3480 100 no 27 txStart-txEnd 5'UTR-3'UTR 7194264 7744554 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 69.5 1.29231994213647 0.27620541213653 0.660060919341019 -1.05139548669208 0.853955018782722 57537 HGNC:16698 2 3.1696e-03 2.6463e-03 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 MIR4798 NR_039961 1 7312176 7312251 75 0 0 NA 1 txStart-txEnd UTR 7312176 7312251 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 100616471 HGNC:41616 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 PSAPL1 NM_001085382 2 7432011 7436657 4646 1566 96 no 1 txStart-txEnd 5'UTR-3'UTR 7432011 7436657 dbVar chr4:7313592-7549020 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 96.06 -0.246463271906552 -0.572766431683099 -0.498050358907741 -1.4518704411588 -1.9222533414192 768239 HGNC:33131 3.3350e-11 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 MIR4274 NR_036238 1 7461754 7461845 91 0 0 NA 1 txStart-txEnd UTR 7461754 7461845 dbVar chr4:7313592-7549020 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 100422826 HGNC:38194 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 AFAP1-AS1 NR_026892 1 7755816 7780655 24839 0 0 NA 2 txStart-txEnd UTR 7755816 7780655 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 84740 HGNC:28141 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 AFAP1 NM_001134647 2 7760440 7941588 181148 2445 100 no 18 txStart-txEnd 5'UTR-3'UTR 7760440 7941588 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 70.06 -2.62354415217069 -0.232673834093773 -1.98456571684452 -1.13990389227529 -0.987321027475765 60312 HGNC:24017 3 2.3828e-07 3.7607e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 LOC389199 NR_172651 1 7940727 7942023 1296 0 0 NA 1 txStart-txEnd UTR 7940727 7942023 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 ABLIM2 NM_001130083 2 7967053 8160540 193487 1938 100 no 21 txStart-txEnd 5'UTR-3'UTR 7967053 8160540 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 63.64 0.337838438332487 -0.499016330621921 -0.246989921895573 -1.59029981969928 -1.42113131036961 84448 HGNC:19195 2 4.5858e-03 7.6242e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 MIR95 NR_029511 1 8007027 8007108 81 0 0 NA 1 txStart-txEnd UTR 8007027 8007108 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 407052 HGNC:31647 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 SH3TC1 NM_018986 5 8201016 8242830 41814 4011 100 no 18 txStart-txEnd 5'UTR-3'UTR 8201016 8242830 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 89.77 -0.370323251116391 -0.462112374732113 -0.471672769326771 -2.08522134689875 -3.42040819381878 54436 HGNC:26009 7 6.0939e-35 1.0820e-27 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 HTRA3 NM_053044 5 8271480 8308825 37345 1362 100 no 9 txStart-txEnd 5'UTR-3'UTR 8271480 8308825 morbid:HTRA3 4:8271481-8308825 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 70.02 -0.536935947037787 -0.623131034083341 -0.644700690991608 0.667359866413857 1.21754776737995 94031 HGNC:30406 yes 6 6.5843e-08 1.7199e-05 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 LINC02517 NR_149125 1 8321902 8325692 3790 0 0 NA 4 txStart-txEnd UTR 8321902 8325692 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 105374374 HGNC:53506 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 ACOX3 NM_003501 3 8368008 8442450 74442 2103 100 no 18 txStart-txEnd 5'UTR-3'UTR 8368008 8442450 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 82.99 -2.37227679543374 -0.95101441383295 -1.44715983267575 -0.00424238497735845 -0.527819209746206 8310 HGNC:121 5 7.6016e-16 3.0316e-12 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 TRMT44 NM_152544 3 8442503 8478282 35779 2274 100 no 11 txStart-txEnd 5'UTR-3'UTR 8442503 8478282 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 87.71 -2.36525961978995 -1.15479952515637 -1.59282400997772 -0.488109075837714 -1.79889045378054 152992 HGNC:26653 7 2.0315e-22 1.4776e-13 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 GPR78 NM_080819 5 8582118 8591750 9632 1092 100 no 3 txStart-txEnd 5'UTR-3'UTR 8582118 8591750 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 91.64 -2.62354415217069 -1.33186842996177 -1.94147419136763 -0.663631774481401 -1.44235869751468 27201 HGNC:4528 9 2.6834e-06 1.2826e-05 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 CPZ NM_001014447 3 8594491 8621479 26988 1959 100 no 11 txStart-txEnd 5'UTR-3'UTR 8594491 8621479 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 75.68 -2.62354415217069 -1.41032367542656 -1.95519140378666 -2.6391793475309 -5.33339017829433 8532 HGNC:2333 9 8.8063e-36 4.5080e-21 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 LOC101928532 NR_187901 1 8747121 8749448 2327 0 0 NA 3 txStart-txEnd UTR 8747121 8749448 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 HMX1 NM_018942 3 8868773 8873565 4792 1047 100 no 2 txStart-txEnd 5'UTR-3'UTR 8868773 8873565 Oculoauricular syndrome, 612109 (3) AR morbid:HMX1 4:8868774-8873565 1 Isolated_microphthalmia_6 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 66.38 1.46868520416757 1.8176765127262 oculoauricular syndrome AR Definitive;Strong;Supportive 18423520;18423520[PMID]_25574057[PMID];19379485;25574057;29140751 3166 HGNC:5017 142992 Oculoauricular syndrome, 612109 (3) AR AR yes 3 7.2623e-01 1.2528e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 FAM90A26 NM_001358418 3 9172134 9178456 6322 1395 100 no 7 txStart-txEnd 5'UTR-3'UTR 9172134 9178456 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 1000g;DDD:12912;DDD:12915;dbVar;dgv923e199;esv3599566 4:9043826-9467101;chr4:9157568-9214307;4:9157569-9214307;4:9157569-9214307;4:9158155-9232046;4:9160215-9232041 1.0000 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 98.14 100287045 HGNC:43746 9 2.8656e-01 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L10 NM_001256852 1 9212382 9213975 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9212382 9213975 DDD:12912;DDD:12919;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101;4:9176165-9236152 0.1145 1000g;DDD:12912;DDD:12915;DDD:12919;dbVar;dgv923e199;esv3599566 4:9043826-9467101;chr4:9157568-9214307;4:9157569-9214307;4:9157569-9214307;4:9158155-9232046;4:9160215-9232041;4:9176165-9236152 1.0000 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 88.87 100287144 HGNC:44438 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L11 NM_001256854 1 9217130 9218723 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9217130 9218723 DDD:12912;DDD:12919;DDD:12922;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101;4:9176165-9236152;4:9212771-9237062 0.1145 DDD:12912;DDD:12915;DDD:12919;DDD:12922;dgv923e199 4:9043826-9467101;4:9158155-9232046;4:9160215-9232041;4:9176165-9236152;4:9212771-9237062 1.0000 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 92.38 100287178 HGNC:44439 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L12 NM_001256853 1 9221877 9223470 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9221877 9223470 DDD:12912;DDD:12919;DDD:12922;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101;4:9176165-9236152;4:9212771-9237062 0.1145 DDD:12912;DDD:12915;DDD:12919;DDD:12922;dgv923e199 4:9043826-9467101;4:9158155-9232046;4:9160215-9232041;4:9176165-9236152;4:9212771-9237062 1.0000 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 91.28 100287205 HGNC:44440 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L13 NM_001256855 1 9226621 9228214 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9226621 9228214 DDD:12912;DDD:12919;DDD:12922;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101;4:9176165-9236152;4:9212771-9237062 0.1145 DDD:12912;DDD:12915;DDD:12919;DDD:12922;dgv923e199 4:9043826-9467101;4:9158155-9232046;4:9160215-9232041;4:9176165-9236152;4:9212771-9237062 1.0000 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 93.57 100287238 HGNC:44441 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L15 NM_001256894 2 9236110 9237772 1662 1662 100 no 1 txStart-txEnd 5'UTR-3'UTR 9236110 9237772 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 88.6 100288520 HGNC:44443 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L17 NM_001256857 1 9245604 9247197 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9245604 9247197 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 91.84 100287327 HGNC:44445 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L18 NM_001256859 1 9250355 9251948 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9250355 9251948 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 91.4 100287364 HGNC:44446 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L19 NM_001256860 1 9255103 9256696 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9255103 9256696 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 89.82 100287404 HGNC:44447 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L20 NM_001256861 1 9259849 9261442 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9259849 9261442 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 92.3 100287441 HGNC:44448 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L21 NM_001256862 1 9264597 9266190 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9264597 9266190 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 93.14 100287478 HGNC:44449 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L22 NM_001256863 1 9269344 9270937 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9269344 9270937 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 90.3 100287513 HGNC:44450 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L24 NM_001242327 1 9326890 9328483 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9326890 9328483 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 94.26 728369 HGNC:44453 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L25 NM_001242326 1 9331636 9333229 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9331636 9333229 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 92.83 728373 HGNC:44452 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L26 NM_001242328 1 9336383 9337976 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9336383 9337976 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 92.3 728379 HGNC:44454 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L5 NM_001242329 1 9341128 9342721 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9341128 9342721 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 93.97 728386 HGNC:37177 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L27 NM_001242330 1 9345873 9347466 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9345873 9347466 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 94.31 728393 HGNC:44455 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L28 NM_001242331 1 9350618 9352211 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9350618 9352211 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 95.78 728400 HGNC:44456 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L29 NM_001242332 1 9355363 9356956 1593 1593 100 no 1 txStart-txEnd 5'UTR-3'UTR 9355363 9356956 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 94.78 728405 HGNC:44457 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L9P NR_046416 1 9360107 9361700 1593 0 0 NA 1 txStart-txEnd UTR 9360107 9361700 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 391627 HGNC:12615 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 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;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 94.83 728419 HGNC:44458 full=5
4_71553_9371067_DEL_1 4 71553 9371067 -9299515 DEL 4p- syndrom Pathogenic NA split p16.1 USP17L6P NR_027279 1 9369599 9370796 1197 0 0 NA 1 txStart-txEnd UTR 9369599 9370796 DDD:12912;IMH;gnomAD-SV_v2.1_DUP_4_11165;gnomAD-SV_v2.1_DUP_4_11169;gnomAD-SV_v2.1_DUP_4_11174 4:8951722-9487283;4:8952199-9486394;4:8958204-9492295;4:9009830-9541289;4:9043826-9467101 0.1145 DDD:12912 4:9043826-9467101 0.0130 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444 0.1474 391622 HGNC:37179 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA full q11.23 TRIM50;FKBP6;FZD9;BAZ1B;BCL7B;TBL2;MLXIPL;VPS37D;DNAJC30;BUD23;STX1A;MIR4284;BICDL3P;ABHD11;CLDN3;CLDN4;METTL27;TMEM270;ELN;ELN-AS1;LIMK1;EIF4H;MIR590;LAT2;RFC2;CLIP2;GTF2IRD1;MIR10525;GTF2I;GTF2I-AS1 NSUN5 NCF1 30 ACOX1 (morbid/RE=mTL_miRNA);AGO2 (morbid/RE=mTL_miRNA);AGTPBP1 (morbid/RE=mTL_miRNA);AHR (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);CIAO1 (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)... 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;7:73442504-73484237;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;1.52 127 Autism;Cutis_laxa,_autosomal_dominant_1;DNAJC30-associated_disorder;ELN-related_disorder;Inborn_genetic_diseases;Intellectual_disability;Leber-like_hereditary_optic_neuropathy,_autosomal_recessive_1;Leber_hereditary_optic_neuropathy,_autosomal_recessive;Leber_optic_atrophy,_susceptibility_to;Male_infertility;Optic_atrophy;Retinal_dystrophy;Spermatogenic_failure_77;Supravalvar_aortic_stenosis;Williams_syndrome IMH 7:66631329-143298938;7:67635774-98083201 0.5000 7:74110032-74113459 DDD:24519; 7:74103674-74113108 DDD:24517;7:74111368-74111473 DDD:24520 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... 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 (30 genes, +0.45);5F (+0.00) 5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 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 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 55.55 0.317380023327075 0.681275321847818 135892 HGNC:19017 7 1.5479e-10 2.7256e-06 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 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 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 65.69 1.49986407027643 1.4396607305099 spermatogenic failure 77 AR Moderate 8468 HGNC:3722 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 -1412812 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 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 46.95 0.247827425263201 -1.18776035129969 -0.895389454591556 8326 HGNC:4047 4 1.9309e-03 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 BAZ1B NM_001370402 1 72854735 72936623 81888 4452 100 no 19 txStart-txEnd 5'UTR-3'UTR 72854735 72936623 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 23.74 1.02239565516008 0.0159631069818757 0.395552906953086 -0.902054979760057 4.05717005254254 autism spectrum disorder AD Limited 9031 HGNC:961 0 1.0000e+00 1.0000e+00 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 BCL7B NM_001301061 2 72950685 72972020 21335 642 100 no 7 txStart-txEnd 5'UTR-3'UTR 72950685 72972020 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 28.63 1.05583278690403 -0.553040364632404 -0.0819162539430506 -0.44503506022657 1.74981493260157 9275 HGNC:1005 3 1.8519e-01 7.0664e-01 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 TBL2 NM_012453 4 72981866 72992909 11043 1344 100 no 7 txStart-txEnd 5'UTR-3'UTR 72981866 72992909 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 30.81 -0.199291215312469 -0.922199212243606 -0.751016280020485 0.200201742907301 0.554223709974506 26608 HGNC:11586 4 1.8452e-04 4.3765e-03 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 MLXIPL NM_032951 3 73007531 73038852 31321 2559 100 no 17 txStart-txEnd 5'UTR-3'UTR 73007531 73038852 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 36.45 0.942636989769333 -0.774220086661663 -0.327638361779731 0.58127606528246 1.2288879277127 51085 HGNC:12744 2 4.7771e-02 6.7682e-01 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 VPS37D NM_001077621 2 73082160 73086440 4280 756 100 no 4 txStart-txEnd 5'UTR-3'UTR 73082160 73086440 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 64.11 -0.0288746954043306 0.953055172354045 155382 HGNC:18287 1 9.1622e-01 6.5635e-01 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 DNAJC30 NM_032317 3 73095247 73097783 2536 681 95 no 1 txStart-txEnd 5'UTR-3'UTR 73095247 73097783 Leber-like hereditary optic neuropathy, AR 1, 619382 (3) AR morbid:DNAJC30 7:73095248-73097783 1 DNAJC30-associated_disorder;Leber-like_hereditary_optic_neuropathy,_autosomal_recessive_1;Leber_hereditary_optic_neuropathy,_autosomal_recessive;Leber_optic_atrophy,_susceptibility_to;Optic_atrophy;Retinal_dystrophy IMH 7:66631329-143298938;7:67635774-98083201 0.5000 80.16 0.717396479665947 -0.500797326082256 -0.15204008716984 1.08623431117684 1.71697083676563 Leber hereditary optic neuropathy;Leber hereditary optic neuropathy, autosomal recessive AR;MT Limited;Strong;Supportive 33465056;33465056[PMID] 84277 HGNC:16410 618202 Leber-like hereditary optic neuropathy, AR 1, 619382 (3) AR AR yes 7 2.3092e-02 4.7983e-03 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 BUD23 NM_001202560 3 73097926 73112542 14616 897 100 no 13 txStart-txEnd 5'UTR-3'UTR 73097926 73112542 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 114049 HGNC:16405 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 STX1A NM_004603 4 73113539 73133999 20460 867 100 no 10 txStart-txEnd 5'UTR-3'UTR 73113539 73133999 1 Autism;Intellectual_disability IMH 7:66631329-143298938;7:67635774-98083201 0.5000 22.82 0.950800964625408 -0.794674734358171 -0.324619004824717 1.10438995088098 3.33806479625907 cystic fibrosis AR Supportive 23572023 6804 HGNC:11433 1 9.7850e-01 9.1048e-01 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 MIR4284 NR_036247 1 73125646 73125727 81 0 0 NA 1 txStart-txEnd UTR 73125646 73125727 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 100422948 HGNC:38322 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 BICDL3P NR_026690 1 73149398 73150330 932 0 0 NA 4 txStart-txEnd UTR 73149398 73150330 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 171022 HGNC:18289 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 ABHD11 NM_148912 4 73150423 73153132 2709 921 100 no 6 txStart-txEnd 5'UTR-3'UTR 73150423 73153132 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 76.55 0.643446275430498 -0.675433866559718 -0.327510119466819 1.09331776236833 0.473373375061211 83451 HGNC:16407 5 2.9581e-03 9.0329e-06 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 CLDN3 NM_001306 4 73183326 73184600 1274 663 75 no 1 txStart-txEnd 5'UTR-3'UTR 73183326 73184600 dbVar chr7:73157999-73206000 0.01 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 33.46 0.332553044404404 -0.966715148489597 -0.688425296234703 2.70903614483931 1.92914089110849 1365 HGNC:2045 4 5.2233e-01 6.7854e-01 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 CLDN4 NM_001305 5 73245325 73247020 1695 630 42 no 1 txStart-txEnd 5'UTR-3'UTR 73245325 73247020 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 23.72 0.563064431580096 -0.809178554455325 -0.46244511082827 -0.0167724140747313 0.933080799622852 1364 HGNC:2046 9 6.9789e-05 1.3716e-04 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 METTL27 NM_152559 3 73248919 73256846 7927 738 100 no 6 txStart-txEnd 5'UTR-3'UTR 73248919 73256846 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 155368 HGNC:19068 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 TMEM270 NM_182504 4 73275488 73280220 4732 798 100 no 3 txStart-txEnd 5'UTR-3'UTR 73275488 73280220 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 135886 HGNC:23018 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 ELN NM_001278939 2 73442502 73484237 41735 2361 100 no 34 txStart-txEnd 5'UTR-3'UTR 73442502 73484237 Cutis laxa, AD, 123700 (3) AD;Supravalvar aortic stenosis, 185500 (3) AD HI3:ELN;dbVar:nssv15128578;dbVar:nssv15770120;dbVar:nssv16214480;dbVar:nssv16214500;dbVar:nssv17172746;dbVar:nssv17971140;dbVar:nssv18786274;dbVar:nssv18791884;dbVar:nssv18791887;morbid:ELN 7:73442503-73484237;7:73442504-73484237;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 124 Cutis_laxa,_autosomal_dominant_1;ELN-related_disorder;Inborn_genetic_diseases;Supravalvar_aortic_stenosis;Williams_syndrome IMH 7:66631329-143298938;7:67635774-98083201 0.5000 3 0 8.62 0.1188507761401 -1.61408470478924 -1.04153334326364 -0.09395744769762 -0.0129976080826519 autosomal dominant cutis laxa;cutis laxa, autosomal dominant 1;familial thoracic aortic aneurysm and aortic dissection;supravalvular aortic stenosis AD Definitive;Limited;Strong;Supportive 10942104[PMID]_19844261[PMID];11175284;16085695[PMID]_18348261[PMID];18348261;19844261;21309044;23442826;27866049;28383366;31560829;8364568 2006 HGNC:3327 130160 Cutis laxa, AD, 123700 (3) AD;Supravalvar aortic stenosis, 185500 (3) AD AD yes 4 2.1429e-14 1.5200e-05 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 ELN-AS1 NR_183555 1 73473234 73476610 3376 0 0 NA 2 txStart-txEnd UTR 73473234 73476610 18 Cutis_laxa,_autosomal_dominant_1;ELN-related_disorder;Supravalvar_aortic_stenosis dbVar chr7:73447215-73480401 0.01 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 107986809 HGNC:40212 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 LIMK1 NM_002314 4 73498133 73536855 38722 1944 100 no 16 txStart-txEnd 5'UTR-3'UTR 73498133 73536855 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 0 0 19.66 0.623604739936053 -0.79212126645541 -0.396805714672051 -0.48782967368913 2.85746490313868 3984 HGNC:6613 0 9.9937e-01 9.9090e-01 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 EIF4H NM_022170 2 73588685 73611426 22741 747 100 no 7 txStart-txEnd 5'UTR-3'UTR 73588685 73611426 dbVar chr7:73504792-73813060 0.01 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 21.78 0.339580839486745 -0.49261121282204 -0.247951312124761 -0.250271670703448 3.27930650064444 7458 HGNC:12741 2 4.3982e-01 9.2254e-01 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 MIR590 NR_030321 1 73605527 73605624 97 0 0 NA 1 txStart-txEnd UTR 73605527 73605624 dbVar chr7:73504792-73813060 0.01 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 693175 HGNC:32846 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 LAT2 NM_014146 4 73624335 73644164 19829 732 100 no 13 txStart-txEnd 5'UTR-3'UTR 73624335 73644164 dbVar chr7:73504792-73813060 0.01 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 88.46 0.592710857132059 -0.653878691847743 -0.292110083865967 0.385787155434006 -0.303087706786894 7462 HGNC:12749 4 2.2295e-04 6.9106e-04 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 RFC2 NM_181471 3 73645831 73668729 22898 1065 100 no 11 txStart-txEnd 5'UTR-3'UTR 73645831 73668729 dbVar chr7:73504792-73813060 0.01 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 14.42 0.200864992787726 -0.430045328414053 -0.225638310792768 -0.430513909559958 1.53581142075512 5982 HGNC:9970 5 2.2054e-06 4.0421e-05 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 CLIP2 NM_003388 5 73703736 73820265 116529 3141 100 no 17 txStart-txEnd 5'UTR-3'UTR 73703736 73820265 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 47.98 1.014608801418 -0.895566510532316 -0.401705936344982 -0.746648021563001 2.45305749434808 7461 HGNC:2586 0 9.9997e-01 9.9988e-01 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 GTF2IRD1 NM_001199207 2 73868235 74016931 148696 2931 100 no 27 txStart-txEnd 5'UTR-3'UTR 73868235 74016931 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 0 0 47.51 1.77201404347458 -0.0325005901648791 0.491444562429841 0.977775575032158 2.53365459317235 neurodevelopmental disorder AR Limited 36308390 9569 HGNC:4661 1 9.0039e-01 9.9643e-01 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 MIR10525 NR_162116 1 74010294 74010353 59 0 0 NA 1 txStart-txEnd UTR 74010294 74010353 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 113218504 HGNC:54015 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 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 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 0 0 33.5 0.964550444182401 4.23220859072885 2969 HGNC:4659 1 9.9592e-01 9.9935e-01 full=5
7_72726579_74139390_DEL_1 7 72726579 74139390 -1412812 DEL Williams syndrom Pathogenic NA split q11.23 GTF2I-AS1 NR_110044 1 74103270 74143256 36120 0 0 NA 4 intron2-txEnd UTR 2349 5' 74103270 74139390 IMH 7:66631329-143298938;7:67635774-98083201 0.5000 101926943 HGNC:55572 full=5
1_196756232_196799302_DEL_1 1 196756232 196799302 -43071 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 1:196724161-196912840 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 1:196748312-196757828 DDD:3701; 1:196724161-196912840 DDD:3693;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 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 -43071 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 1:196724161-196912840 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 HGNC:16980 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 -43071 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 1:196724161-196912840 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 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 HGNC:4888 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
12_63935482_64130626_DEL_1 12 63935482 64130626 -195145 DEL DPY19L2 (both DEL and DUP LCR mediated, precise breakpoints) Pathogenic NA full q14.2 DPY19L2 AVPR1A RXYLT1 1 RXYLT1 (morbid/RE=GH_enhancer+GH_promoter);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 12:63939159-64117235 1000g;12:63940549-64135811 DDD:38888;12:64069043-64136500 dgv280e214;12:63939159-64117235 1000g;12:63940549-64135811 DDD:38888;12:64069043-64136500 dgv280e214 12:63936386-64131550 gnomAD-SV_v2.1_DUP_12_34997;12:63939159-64117235 esv3629757;12:64020291-64020367 DDD:38896;12:63936386-64131550 gnomAD-SV_v2.1_DUP_12_34997;12:63939159-64117235 esv3629757;12:64020291-64020367 DDD:38896 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 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 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
12_63935482_64130626_DEL_1 12 63935482 64130626 -195145 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;esv3629757;gnomAD-SV_v2.1_DUP_12_34997 12:63936386-64131550;12:63939159-64117235;12:63939159-64117235;12:63940549-64135811 0.0257 dbVar chr12:63923277-64119251;chr12:63939158-64117235;chr12:63946269-64141505 0.01 IMH 12:11501488-96031049;12:40933234-113477160 0.1070 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 HGNC:19414 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 5668 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_5|Saldino-Mainzer_syndrome|Cranioectodermal_dysplasia|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 Cranioectodermal dysplasia 5, 621180 (3) AR;Retinitis pigmentosa 80, 617781 (3) AR;Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3) AR;Polycystic kidney disease 9, susceptibility to, 621164 (3) AD 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 14 Jeune_thoracic_dystrophy;Retinal_dystrophy;Retinitis_pigmentosa;Retinitis_pigmentosa_80;Saldino-Mainzer_syndrome 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 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 5668 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 14 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 HGNC:29077 614620 Cranioectodermal dysplasia 5, 621180 (3) AR;Retinitis pigmentosa 80, 617781 (3) AR;Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3) AR;(Polycystic kidney disease 9, susceptibility to), 621164 (3) AD AD;AR yes yes 4 9.9140e-24 9.1377e-18 full=5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 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);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 (HI=3/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)... 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) AD,AR;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;17:15133097-15168643;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 60 Autosomal_recessive_Dejerine-Sottas_syndrome;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_SYNDROME,_AUTOSOMAL_DOMINANT;Dejerine-Sottas_disease;Guillain-Barre_syndrome,_familial;Hereditary_liability_to_pressure_palsies;Inborn_genetic_diseases;Mitochondrial_complex_4_deficiency,_nuclear_type_3;Mitochondrial_complex_IV_deficiency,_nuclear_type_1;Roussy-Lévy_syndrome dbVar chr17:14093499-15486000 0.01 17:14191081-14198547 DDD:48802;17:14224375-14483419 esv3640026;17:14668590-15084842 esv3640046 17:14191081-14191901 DDD:48801;17:14224375-14483419 1000g;17:14668590-15084842 1000g 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... 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);4O (cf po_B_gain_AllG_source, B_gain_source, po_B_gain_SomeG_source, +0.00);5F (+0.00) 5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 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 Mitochondrial_complex_4_deficiency,_nuclear_type_3;Mitochondrial_complex_IV_deficiency,_nuclear_type_1 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 HGNC:2260 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 1341948 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 chr17:14093499-15486000;chr17:14126839-14220873 0.01 96.58 -2.62354415217069 -2.20416703243077 -2.47162789907313 1.67462394349301 1.73432863871862 146822 HGNC:14395 9 1.2820e-06 7.5064e-03 full=5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 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 chr17:14093499-15486000 0.01 42.95 -2.62354415217069 -0.276965016632095 -1.64032033771268 3.6772325764896 4.17517843763452 9953 HGNC:5198 4 2.9349e-01 8.5455e-02 full=5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 DUP PMP22 (CMT1A) Pathogenic NA split p12 MGC12916 NR_026880 1 14207056 14209062 2006 0 0 NA 1 txStart-txEnd UTR 14207056 14209062 dbVar chr17:14093499-15486000;chr17:14126839-14220873 0.01 full=5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 DUP PMP22 (CMT1A) Pathogenic NA split p12 CDRT7 NR_033371 1 14934291 14935274 983 0 0 NA 3 txStart-txEnd UTR 14934291 14935274 1000g;esv3640046 17:14668590-15084842;17:14668590-15084842 0.2720 dbVar chr17:14093499-15486000;chr17:14668589-15084842;chr17:14920183-14938805;chr17:14931264-14977742 0.01 94150 HGNC:14386 full=5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 DUP PMP22 (CMT1A) Pathogenic NA split p12 LOC101928475 NR_135638 1 14954671 14955593 922 0 0 NA 1 txStart-txEnd UTR 14954671 14955593 1000g;esv3640046 17:14668590-15084842;17:14668590-15084842 0.2720 dbVar chr17:14093499-15486000;chr17:14668589-15084842;chr17:14931264-14977742 0.01 full=5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 DUP PMP22 (CMT1A) Pathogenic NA split p12 CDRT8 NR_103559 1 15008301 15009504 1203 0 0 NA 2 txStart-txEnd UTR 15008301 15009504 1000g;esv3640046 17:14668590-15084842;17:14668590-15084842 0.2720 dbVar chr17:14093499-15486000;chr17:14668589-15084842;chr17:14995672-15057656;chr17:14995771-15057475 0.01 94151 HGNC:14387 full=5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 DUP PMP22 (CMT1A) Pathogenic NA split p12 PMP22 NM_000304 4 15133095 15168643 35548 483 100 no 5 txStart-txEnd 5'UTR-3'UTR 15133095 15168643 dbVar:nssv15130870;dbVar:nssv15770494;dbVar:nssv15770609;dbVar:nssv15770794;dbVar:nssv17171395;dbVar:nssv17171396;dbVar:nssv17517518;dbVar:nssv17971796;dbVar:nssv18788963 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 ?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 HI3:PMP22;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 17:15133097-15168643;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 59 Autosomal_recessive_Dejerine-Sottas_syndrome;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_SYNDROME,_AUTOSOMAL_DOMINANT;Dejerine-Sottas_disease;Guillain-Barre_syndrome,_familial;Hereditary_liability_to_pressure_palsies;Inborn_genetic_diseases;Roussy-Lévy_syndrome dbVar chr17:14093499-15486000 0.01 3 0 40.48 -2.62354415217069 -1.55852578268999 -2.47162789907313 -0.424806725478425 1.07197498670855 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 AD Definitive;Moderate;Strong;Supportive 10330345;118220;12578939;162500;18698610[PMID]_12090401[PMID];20301384[PMID];23224996;24175617;601097;7931393;8355122;9143558;NULL 5376 HGNC:9118 601097 ?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 ?AD;AD;AD,AR yes yes 1 9.0958e-01 8.3315e-01 full=5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 DUP PMP22 (CMT1A) Pathogenic NA split p12 MIR4731 NR_039884 1 15154943 15155013 70 0 0 NA 1 txStart-txEnd UTR 15154943 15155013 dbVar chr17:14093499-15486000;chr17:15070858-15163533;chr17:15112458-15159531;chr17:15150741-15155583 0.01 100616125 HGNC:41597 full=5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 DUP PMP22 (CMT1A) Pathogenic NA split p12 TEKT3 NM_031898 3 15207128 15244914 37786 1473 100 no 9 txStart-txEnd 5'UTR-3'UTR 15207128 15244914 Spermatogenic failure 81, 620277 (3) AR morbid:TEKT3 17:15207129-15244914 dbVar chr17:14093499-15486000 0.01 59.06 -2.62354415217069 -1.25885348060374 -2.47162789907313 0.241972873531725 -0.405588628410555 spermatogenic failure 81 Limited 18951373;36708031 64518 HGNC:14293 612683 Spermatogenic failure 81, 620277 (3) AR AR yes 7 1.9845e-17 3.1995e-14 full=5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 DUP PMP22 (CMT1A) Pathogenic NA split p12 CDRT4 NM_001204477 2 15339331 15370935 31604 459 100 no 4 txStart-txEnd 5'UTR-3'UTR 15339331 15370935 dbVar chr17:14093499-15486000;chr17:15287341-15482010 0.01 86.77 -2.62354415217069 -2.24141606178004 -2.47162789907313 -0.193191475026352 0.152950560142403 284040 HGNC:14383 9 9.5789e-02 2.4429e-01 full=5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 DUP PMP22 (CMT1A) Pathogenic NA split p12 TVP23C-CDRT4 NM_001204478 2 15339331 15466797 102735 33 6 no 7 intron5-txEnd CDS-3'UTR 7032 5' 15339331 15442066 dbVar chr17:14093499-15486000;chr17:15287341-15482010 0.01 52.33 -2.62354415217069 -2.53125239294469 -2.47162789907313 0.433099426603836 0.962176598220999 100533496 HGNC:42961 7 8.7378e-07 2.3623e-03 full=5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 DUP PMP22 (CMT1A) Pathogenic NA split p12 CDRT3 NR_146601 1 15373624 15374150 526 0 0 NA 1 txStart-txEnd UTR 15373624 15374150 dbVar chr17:14093499-15486000;chr17:15287341-15482010 0.01 94145 HGNC:14382 full=5
17_14100119_15442066_DUP_1 17 14100119 15442066 1341948 DUP PMP22 (CMT1A) Pathogenic NA split p12 TVP23C NM_145301 3 15405577 15466797 36489 369 44 no 6 intron5-txEnd CDS-3'UTR 7032 5' 15405577 15442066 dbVar chr17:14093499-15486000;chr17:15287341-15482010 0.01 49.2 -2.62354415217069 -2.53125239294469 -2.47162789907313 0.622094281610252 0.322678575541803 201158 HGNC:30453 7 2.3189e-05 1.3674e-04 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA full p14.2-p14.1 LINC00698;SYNPR;SYNPR-AS1;SNTN;CDHR18P;C3orf49;THOC7;THOC7-AS1;ATXN7;SCAANT1;PSMD6-AS2;PSMD6;PSMD6-AS1;PRICKLE2-AS1;LINC00994;PRICKLE2;PRICKLE2-AS2;PRICKLE2-AS3;PRICKLE2-DT;ADAMTS9;ADAMTS9-AS1;ADAMTS9-AS2;LINC02040 CADPS MAGI1 23 SLC25A26 (morbid/RE=ABC_enhancer) Spinocerebellar ataxia 7, 164500 (3) AD morbid:ATXN7 3:63953470-63989138 dbVar:nssv15162889;dbVar:nssv15164144;dbVar:nssv15149891;nssv15151839 3:60175-197948027;3:61496-197838262;3:61893-197851986 1.18;1.18;1.18 dbVar:nssv15146214;dbVar:nssv15774780;dbVar:nssv15148889;dbVar:nssv15147494;dbVar:nssv17956097;dbVar:nssv16207905;dbVar:nssv15150232;dbVar:nssv15146193;dbVar:nssv15120308 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 19.47;26.96;7.03;25.91;20.52;45.57;24.99;35.52;3.81 2 Progressive_myoclonic_epilepsy_type_5;See_cases IMH 3:1200531-154949082;3:38627146-149162150 0.3422 3:63725720-63725786 gnomAD-SV_v2.1_DUP_3_8770;3:64533160-64535613 gnomAD-SV_v2.1_DUP_3_8779 3:63224614-63225527 IMH;3:64533160-64535613 IMH 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... 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... 0.355 0.430 3:62939271-62939427 MER5A1 3:65268746-65268796;3:65268797-65269299 LTR16B;L1MB2 68.54 0.730304227093642 1.22944963357105 1.15014257139245 0.85336181383742 2.61388539526619 607640 yes 0 9.9544e-01 9.8784e-01 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_loss_source, +1.00);3A (23 genes, +0.00);5F (+0.00) 5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.2 LINC00698 NR_027104 1 63088363 63110738 22375 0 0 NA 7 txStart-txEnd UTR 63088363 63110738 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 285401 HGNC:27720 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.2 SYNPR NM_001130003 2 63263983 63602600 338617 858 100 no 6 txStart-txEnd 5'UTR-3'UTR 63263983 63602600 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 27.35 -0.433167561551584 -0.551647400212283 132204 HGNC:16507 4 4.1913e-03 1.7171e-01 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.2 SYNPR-AS1 NR_046677 1 63409271 63535727 126456 0 0 NA 5 txStart-txEnd UTR 63409271 63535727 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.2 SNTN NM_001348756 2 63638350 63650888 12538 534 100 no 5 txStart-txEnd 5'UTR-3'UTR 63638350 63650888 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 66.14 0.0947592166796515 -0.338299474644844 -0.173049359454575 -0.0258588646723899 -1.1196806141136 132203 HGNC:33706 9 1.0257e-04 2.7379e-03 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 CDHR18P NR_171774 1 63727499 63799313 71814 0 0 NA 9 txStart-txEnd UTR 63727499 63799313 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 100130345 HGNC:53742 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 C3orf49 NM_001355236 2 63804974 63834312 29338 879 100 no 7 txStart-txEnd 5'UTR-3'UTR 63804974 63834312 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 68.54 132200 HGNC:25190 7 4.0628e-08 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 THOC7 NM_025075 4 63819545 63849481 29936 615 100 no 8 txStart-txEnd 5'UTR-3'UTR 63819545 63849481 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 7.39 0.226822637024357 -2.4455441384945 -1.79937886551949 -0.696357556154856 1.21996216564798 80145 HGNC:29874 4 6.0818e-03 9.7832e-01 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 THOC7-AS1 NR_104326 1 63846320 63847495 1175 0 0 NA 2 txStart-txEnd UTR 63846320 63847495 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 ATXN7 NM_001177387 1 63884074 63989138 105064 2838 100 no 13 txStart-txEnd 5'UTR-3'UTR 63884074 63989138 Spinocerebellar ataxia 7, 164500 (3) AD morbid:ATXN7 3:63953470-63989138 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 17.72 0.730304227093642 0.636006512326363 0.862222958307612 0.85336181383742 0.386394557252369 autosomal dominant cerebellar ataxia type II;spinocerebellar ataxia type 7 AD Moderate;Strong;Supportive 20301317[PMID];9288099 6314 HGNC:10560 607640 Spinocerebellar ataxia 7, 164500 (3) AD AD yes 1 9.5950e-01 9.2856e-01 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 SCAANT1 NR_148359 2 63897187 63898059 872 0 0 NA 1 txStart-txEnd UTR 63897187 63898059 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 100861563 HGNC:43718 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 PSMD6-AS2 NR_038286 1 63989697 63997919 8222 0 0 NA 3 txStart-txEnd UTR 63989697 63997919 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 100507062 HGNC:44125 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 PSMD6 NM_001271779 2 63996226 64009170 12944 1329 100 no 9 txStart-txEnd 5'UTR-3'UTR 63996226 64009170 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 8.63 0.167507008532066 0.979835184836382 0.835574002005388 -0.764855351937167 1.81088903222596 9861 HGNC:9564 0 9.9518e-01 9.6209e-01 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 PSMD6-AS1 NR_189168 1 63997639 64001938 4299 0 0 NA 2 txStart-txEnd UTR 63997639 64001938 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 PRICKLE2-AS1 NR_045697 1 64053639 64088807 35168 0 0 NA 3 txStart-txEnd UTR 64053639 64088807 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 100652759 HGNC:40916 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 LINC00994 NR_033978 1 64064036 64073039 9003 0 0 NA 4 txStart-txEnd UTR 64064036 64073039 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 100287879 HGNC:48949 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 PRICKLE2 NM_001370528 1 64077911 64253849 175938 2535 100 no 8 txStart-txEnd 5'UTR-3'UTR 64077911 64253849 2 Progressive_myoclonic_epilepsy_type_5;See_cases IMH 3:1200531-154949082;3:38627146-149162150 0.3422 19.72 0.557303960601498 1.22944963357105 1.15014257139245 0.337534415605819 2.61388539526619 complex neurodevelopmental disorder;neurodevelopmental disorder AD;AR Limited 166336 HGNC:20340 1 9.9544e-01 9.8784e-01 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 PRICKLE2-AS2 NR_046701 1 64089145 64092034 2889 0 0 NA 4 txStart-txEnd UTR 64089145 64092034 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 PRICKLE2-AS3 NR_046702 1 64173219 64187237 14018 0 0 NA 4 txStart-txEnd UTR 64173219 64187237 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 PRICKLE2-DT NR_183712 1 64430932 64441746 10814 0 0 NA 4 txStart-txEnd UTR 64430932 64441746 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 101929316 HGNC:52829 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 ADAMTS9 NM_182920 2 64501329 64673676 172347 5808 100 no 40 txStart-txEnd 5'UTR-3'UTR 64501329 64673676 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 31.58 -1.39811826175974 -0.477054147176997 -0.711187689176027 -0.797615479905467 0.510431064472241 ciliopathy;nephronophthisis 1 AR Limited;Supportive 30609407[PMID] 56999 HGNC:13202 1 1.0004e-06 4.2266e-07 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 ADAMTS9-AS1 NR_110150 1 64547021 64575760 28739 0 0 NA 3 txStart-txEnd UTR 64547021 64575760 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 101929335 HGNC:40625 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 ADAMTS9-AS2 NR_038264 1 64670545 64997143 326598 0 0 NA 6 txStart-txEnd UTR 64670545 64997143 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 100507098 HGNC:42435 full=5
3_62939218_65268743_DEL_1 3 62939218 65268743 -2329526 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split p14.1 LINC02040 NR_183715 1 65160613 65179178 18565 0 0 NA 5 txStart-txEnd UTR 65160613 65179178 IMH 3:1200531-154949082;3:38627146-149162150 0.3422 102724763 HGNC:52880 full=5
3_97483034_97487074_DEL_1 3 97483034 97487074 -4041 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 5 ARL6-related_disorder;Bardet-Biedl_syndrome_1;Bardet-Biedl_syndrome_3;Retinal_dystrophy;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 -4041 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 5 ARL6-related_disorder;Bardet-Biedl_syndrome_1;Bardet-Biedl_syndrome_3;Retinal_dystrophy;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 Strong;Supportive 15258860;15314642;19858128;19956407;20142850;20301537[PMID];20301590[PMID];20333246;21282186;22085962;22334370;250666;26355662;26489029;27124789;27486776;28130426;28502102;31736247 84100 HGNC:13210 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 -3028074 DEL TAD MEF2C Pathogenic NA full q14.3 LOC102724637;MIR3660;LINC01339;CETN3;LOC731157;MBLAC2;POLR3G;LYSMD3;ADGRV1;LUCAT1;ARRDC3;ARRDC3-AS1 MEF2C-AS1 LOC105379082 12 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+GH_promoter);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;CLN:3786833;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;5:90261287-90261361;5:90368245-90398177;5:90368250-90459732 CLN:1393621;CLN:1447486;CLN:3819107;dbVar:nssv17971430;dbVar:nssv17974885 5:89949103-89949102;5:89949103-89949236;5:89990260-89990259;5:89990260-89990371;5:90024639-90024756 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;2.23 435 ADGRV1-related_disorder;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_2A;Usher_syndrome_type_2C IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 5:89788663-89788952 IMH;5:90866987-90867072 gnomAD-SV_v2.1_DUP_5_15730 5:89264627-89264683 gnomAD-SV_v2.1_DUP_5_15710;5:89860422-89860742 1000g 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... 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 (12 genes, +0.00);5F (+0.00) 5
5_88774329_91802402_DEL_1 5 88774329 91802402 -3028074 DEL TAD MEF2C Pathogenic NA split q14.3 LOC102724637 NR_188242 1 89198108 89269817 71709 0 0 NA 6 txStart-txEnd UTR 89198108 89269817 IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 full=5
5_88774329_91802402_DEL_1 5 88774329 91802402 -3028074 DEL TAD MEF2C Pathogenic NA split q14.3 MIR3660 NR_037433 1 89312437 89312537 100 0 0 NA 1 txStart-txEnd UTR 89312437 89312537 IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 100500825 HGNC:38985 full=5
5_88774329_91802402_DEL_1 5 88774329 91802402 -3028074 DEL TAD MEF2C Pathogenic NA split q14.3 LINC01339 NR_120601 1 89454155 89585888 131733 0 0 NA 6 txStart-txEnd UTR 89454155 89585888 IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 101929495 HGNC:50549 full=5
5_88774329_91802402_DEL_1 5 88774329 91802402 -3028074 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 HGNC:1868 7 1.0528e-04 1.1321e-02 full=5
5_88774329_91802402_DEL_1 5 88774329 91802402 -3028074 DEL TAD MEF2C Pathogenic NA split q14.3 LOC731157 NR_105024 1 89705816 89706486 670 0 0 NA 2 txStart-txEnd UTR 89705816 89706486 IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 full=5
5_88774329_91802402_DEL_1 5 88774329 91802402 -3028074 DEL TAD MEF2C Pathogenic NA split q14.3 MBLAC2 NM_203406 2 89754025 89770588 16563 840 100 no 2 txStart-txEnd 5'UTR-3'UTR 89754025 89770588 IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 38.68 -0.0315707309390069 0.414676882744812 0.420940108293089 1.13380694792028 0.9911283716698 153364 HGNC:33711 7 4.5418e-05 2.8010e-04 full=5
5_88774329_91802402_DEL_1 5 88774329 91802402 -3028074 DEL TAD MEF2C Pathogenic NA split q14.3 POLR3G NM_001370354 1 89769745 89810374 40629 672 100 no 8 txStart-txEnd 5'UTR-3'UTR 89769745 89810374 IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 38.97 0.478729015674934 0.798950378312061 0.929744998199481 0.494543657071353 -0.512733755306802 10622 HGNC:30075 8 1.7611e-10 6.4276e-05 full=5
5_88774329_91802402_DEL_1 5 88774329 91802402 -3028074 DEL TAD MEF2C Pathogenic NA split q14.3 LYSMD3 NM_198273 2 89811442 89825401 13959 921 100 no 3 txStart-txEnd 5'UTR-3'UTR 89811442 89825401 IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 28.58 0.0616099264393714 -0.398837217747125 116068 HGNC:26969 3 3.0382e-01 7.7182e-01 full=5
5_88774329_91802402_DEL_1 5 88774329 91802402 -3028074 DEL TAD MEF2C Pathogenic NA split q14.3 ADGRV1 NM_032119 4 89854613 90460254 605641 18921 100 no 90 txStart-txEnd 5'UTR-3'UTR 89854613 90460254 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 CLN:3786833;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 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;5:90261287-90261361;5:90368245-90398177;5:90368250-90459732 CLN:1393621;CLN:1447486;CLN:3819107;dbVar:nssv17971430;dbVar:nssv17974885 5:89949103-89949102;5:89949103-89949236;5:89990260-89990259;5:89990260-89990371;5:90024639-90024756 435 ADGRV1-related_disorder;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_2A;Usher_syndrome_type_2C IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 30 0 25.58 Usher syndrome type 2;Usher syndrome type 2C;febrile seizures, familial, 4;nonsyndromic genetic hearing loss AD;AR Definitive;Disputed Evidence;Limited;Strong;Supportive 14740321;16775142;19357116;19357117;20301515[PMID];22135276;22147658;23441107;25572244;280396 84059 HGNC:17416 602851 ?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 AD;Digenic dominant,AR yes yes full=5
5_88774329_91802402_DEL_1 5 88774329 91802402 -3028074 DEL TAD MEF2C Pathogenic NA split q14.3 LUCAT1 NR_103548 1 90598802 90610219 11417 0 0 NA 5 txStart-txEnd UTR 90598802 90610219 IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 100505994 HGNC:48498 full=5
5_88774329_91802402_DEL_1 5 88774329 91802402 -3028074 DEL TAD MEF2C Pathogenic NA split q14.3 ARRDC3 NM_020801 4 90664447 90679134 14687 1245 100 no 8 txStart-txEnd 5'UTR-3'UTR 90664447 90679134 IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 10.63 0.745040589608255 1.00834122048279 1.19108832249232 0.196967347879621 1.83366808117122 57561 HGNC:29263 1 9.8715e-01 9.7875e-01 full=5
5_88774329_91802402_DEL_1 5 88774329 91802402 -3028074 DEL TAD MEF2C Pathogenic NA split q14.3 ARRDC3-AS1 NR_027435 1 90676163 90716532 40369 0 0 NA 3 txStart-txEnd UTR 90676163 90716532 IMH 5:24758285-101693420;5:28691217-97582419;5:84488955-162334467 0.5483 100129716 HGNC:44145 full=5
6_29854871_29896710_DEL_1 6 29854871 29896710 -41840 DEL Benign NA full p22.1 HLA-H;HCG4B HCP5B HLA-A 2 GABBR1 (morbid/RE=EA_enhancer);ZFP57 (morbid/RE=EA_enhancer+GH_enhancer+GH_promoter_enhancer) morbid:HLA-H 6:29855350-29858856 dbVar:nssv15166690;dbVar:nssv15166692;dbVar:nssv15161578;dbVar:nssv15161859;nssv15161868;dbVar:nssv15168255;dbVar:nssv15148873;dbVar:nssv15606075 6:60108-171054786;6:108667-170980171;6:156975-46757028;6:156976-170919482;6:165633-170919470;6:3224545-30624967;6:29455466-81447367 0.02;0.02;0.09;0.02;0.02;0.15;0.08 dbVar:nssv17955655 6:28005013-31683185 1.14 DDD:20149;IMH 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;6:29840747-29917149 0.1073 1000g;DDD:20139;DDD:20142;DDD:20149;DDD:20154;IMH;dbVar;dgv1087e199;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 0.4519 IMH 6:26743912-58149585;6:26745294-58149309 0.3871 6:29722846-29947201 IMH;6:29733227-29961287 IMH;6:29762617-29919277 IMH;6:29767394-29923982 IMH;6:29771866-29927541 IMH;6:29777143-29871794 IMH;6:29840747-29917149 DDD:20149 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 6:29805446-29928380 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 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 0.375 0.510 6:29842025-29863148 yes 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
6_29854871_29896710_DEL_1 6 29854871 29896710 -41840 DEL Benign NA split p22.1 HLA-H NR_001434 4 29855349 29858856 3507 0 0 NA 8 txStart-txEnd UTR 29855349 29858856 morbid:HLA-H 6:29855350-29858856 DDD:20149;IMH 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;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 3136 HGNC:4965 yes full=5
6_29854871_29896710_DEL_1 6 29854871 29896710 -41840 DEL Benign NA split p22.1 HCG4B NR_001317 3 29892368 29894992 2624 0 0 NA 1 txStart-txEnd UTR 29892368 29894992 DDD:20149;IMH 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;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 HGNC:22919 full=5
8_56986130_57169684_DEL_1 8 56986130 57169684 -183555 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 chr8:56988070-56988448 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 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 -183555 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 0 0 29.1 0.98432298330431 -0.0464637247715686 0.36681079114905 -0.0133102053832282 2.09183372030708 Diamond-Blackfan anemia;Lynch syndrome;familial colorectal cancer;familial colorectal cancer type X;hereditary nonpolyposis colon cancer AD Limited;Moderate;Supportive 24941021[PMID];32790018[PMID] 6224 HGNC:10405 5 2.0686e-02 6.8632e-01 full=5
8_56986130_57169684_DEL_1 8 56986130 57169684 -183555 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 SNORD54 NR_002437 1 56986397 56986460 63 0 0 NA 1 txStart-txEnd UTR 56986397 56986460 26795 HGNC:10204 full=5
8_56986130_57169684_DEL_1 8 56986130 57169684 -183555 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 CERNA3 NR_149110 1 56987150 56987833 683 0 0 NA 2 txStart-txEnd UTR 56987150 56987833 105375847 HGNC:53469 full=5
8_56986130_57169684_DEL_1 8 56986130 57169684 -183555 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 4342 HGNC:7199 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 -183555 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 15.18 0.393657994766781 -2.53125239294469 -2.47162789907313 -0.349819812502603 1.96019845356841 silver-russell syndrome 4 AD Moderate;Strong 15606491;28796236;32546215 5324 HGNC:9045 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 -183555 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 HGNC:28314 6 3.4885e-02 3.8798e-01 full=5
X_53250654_53856257_DUP_1 X 53250654 53856257 605604 DUP HUWE1 Pathogenic NA full p11.22 KDM5C;IQSEC2;SMC1A;MIR6857;RIBC1;HSD17B10;HUWE1;MIR98;MIRLET7F2 MIR6894 PHF8 9 ACACA (morbid/RE=mTL_miRNA);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);AHR (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);ARL6IP1 (morbid/RE=mTL_miRNA);ASCC3 (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);CAP1 (morbid/RE=mTL_miRNA);CAPN15 (morbid/RE=mTL_miRNA);CBL (morbid/RE=mTL_miRNA);CCND2 (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:53262059-53350548;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 277 Abnormal_heart_valve_morphology;Atypical_Rett_syndrome;Congenital_muscular_hypertrophy-cerebral_syndrome;Cornelia_de_Lange_syndrome_1;De_Lange_syndrome;Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects;Epileptic_encephalopathy;Global_developmental_delay;HSD10_mitochondrial_disease;HUWE1-related_disorder;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;SMC1A-related_disorder;See_cases;Seizure;Severe_intellectual_deficiency;Spastic_paraplegia;Syndromic_X-linked_intellectual_disability_Claes-Jensen_type;Undetermined_early-onset_epileptic_encephalopathy IMH X:46769178-84009828 0.1280 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 605604 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 6 Inborn_genetic_diseases;Spastic_paraplegia;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 Definitive;Strong;Supportive 15586325;15586325[PMID];18697827;21575681;22326837;25666439;32279304 8242 HGNC:11114 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 605604 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:53262059-53350548;X:53263402-53280376;X:53264077-53264258;X:53264078-53264257;X:53270947-53271111;X:53279442-53280376;X:53295510-53310766;X:53348888-53349736 136 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 Definitive;Strong;Supportive 20473311[PMID];21686261;23674175[PMID];24306141;25167861;26544041;26793055;27665735;300522;30206421 23096 HGNC:29059 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 605604 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 118 Abnormal_heart_valve_morphology;Atypical_Rett_syndrome;Congenital_muscular_hypertrophy-cerebral_syndrome;Cornelia_de_Lange_syndrome_1;De_Lange_syndrome;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;SMC1A-related_disorder;See_cases;Seizure 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 Definitive;Strong;Supportive 20301283[PMID];26358754;26386245;27334371;28166369;28548707;31334757;32222533[PMID] 8243 HGNC:11111 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
X_53250654_53856257_DUP_1 X 53250654 53856257 605604 DUP HUWE1 Pathogenic NA split p11.22 MIR6857 NR_106916 1 53432604 53432697 93 0 0 NA 1 txStart-txEnd UTR 53432604 53432697 IMH X:46769178-84009828 0.1280 102465516 HGNC:50263 full=5
X_53250654_53856257_DUP_1 X 53250654 53856257 605604 DUP HUWE1 Pathogenic NA split p11.22 RIBC1 NM_001031745 5 53449821 53458063 8242 1140 100 no 8 txStart-txEnd 5'UTR-3'UTR 53449821 53458063 IMH X:46769178-84009828 0.1280 75.6 0.80408198011521 0.293719819544616 158787 HGNC:26537 1 9.8300e-01 9.6626e-01 full=5
X_53250654_53856257_DUP_1 X 53250654 53856257 605604 DUP HUWE1 Pathogenic NA split p11.22 HSD17B10 NM_004493 3 53458208 53461317 3109 786 100 no 6 txStart-txEnd 5'UTR-3'UTR 53458208 53461317 HSD10 mitochondrial disease, 300438 (3) XLD morbid:HSD17B10 X:53458209-53461317 4 HSD10_mitochondrial_disease IMH X:46769178-84009828 0.1280 0 0 21.63 0.807946261414963 2.17074250392365 HSD10 disease, infantile type;HSD10 disease, neonatal type;HSD10 mitochondrial disease;syndromic X-linked intellectual disability type 10 XL Definitive;Strong;Supportive 22127393;22127393[PMID] 3028 HGNC:4800 300256 HSD10 mitochondrial disease, 300438 (3) XLD XLD yes 1 9.3604e-01 8.8687e-01 full=5
X_53250654_53856257_DUP_1 X 53250654 53856257 605604 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 13 Global_developmental_delay;HUWE1-related_disorder;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 Definitive;Strong;Supportive 18252223;19377476;1968668;20231446;22840365;24303071;25644381;25985138;27418510;27615324;29180823;29180823[PMID] 10075 HGNC:30892 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 605604 DUP HUWE1 Pathogenic NA split p11.22 MIR98 NR_029513 1 53583183 53583302 119 0 0 NA 1 txStart-txEnd UTR 53583183 53583302 IMH X:46769178-84009828 0.1280 407054 HGNC:31649 full=5
X_53250654_53856257_DUP_1 X 53250654 53856257 605604 DUP HUWE1 Pathogenic NA split p11.22 MIRLET7F2 NR_029484 1 53584152 53584235 83 0 0 NA 1 txStart-txEnd UTR 53584152 53584235 IMH X:46769178-84009828 0.1280 406889 HGNC:31484 full=5
11_66287089_66288847_DEL_1 11 66287089 66288847 -1759 DEL BBS1 internal frameshift Pathogenic NA full q13.2 BBS1;ZDHHC24 DPP3 ACTN3 2 BANF1 (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 14 BBS1-related_disorder;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 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 -1759 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 14 BBS1-related_disorder;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;18032602;20301537[PMID];20498079 582 HGNC:966 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 -1759 DEL BBS1 internal frameshift Pathogenic NA split q13.2 ZDHHC24 NM_001348571 2 66288095 66313519 752 0 0 NA 5 exon5-txEnd 3'UTR 90 3' 66288095 66288847 7 BBS1-related_disorder;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 HGNC:27387 7 4.2080e-04 6.1403e-03 full=4
7_33397468_33397607_DEL_1 7 33397468 33397607 -140 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 2 Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_9 IMH 7:23891013-65526751;7:33013222-55782515 0.3810 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 -140 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 2 Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_9 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;250490;251248;268436;282550 27241 HGNC:30000 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 195145 DUP DPY19L2 (both DEL and DUP LCR mediated, precise breakpoints) Pathogenic NA full q14.2 DPY19L2 AVPR1A RXYLT1 1 RXYLT1 (morbid/RE=GH_enhancer+GH_promoter);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 12:63939159-64117235 1000g;12:63940549-64135811 DDD:38888;12:64069043-64136500 dgv280e214;12:63939159-64117235 1000g;12:63940549-64135811 DDD:38888;12:64069043-64136500 dgv280e214 12:63936386-64131550 gnomAD-SV_v2.1_DUP_12_34997;12:63939159-64117235 esv3629757;12:64020291-64020367 DDD:38896;12:63936386-64131550 gnomAD-SV_v2.1_DUP_12_34997;12:63939159-64117235 esv3629757;12:64020291-64020367 DDD:38896 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 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);4O (cf po_B_gain_AllG_source, B_gain_source, po_B_gain_SomeG_source, +0.00);5F (+0.00) 3
12_63935482_64130626_DUP_1 12 63935482 64130626 195145 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;esv3629757;gnomAD-SV_v2.1_DUP_12_34997 12:63936386-64131550;12:63939159-64117235;12:63939159-64117235;12:63940549-64135811 0.0257 dbVar chr12:63923277-64119251;chr12:63939158-64117235;chr12:63946269-64141505 0.01 IMH 12:11501488-96031049;12:40933234-113477160 0.1070 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 HGNC:19414 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 2747290 DUP Benign NA full p11.2-p11.1 LOC102723753;HERC2P4;TP53TG3D;LOC390705;LOC107987382;TP53TG3;SLC6A10P;TP53TG3C;LOC105369266;TP53TG3B;LOC107987386;ENPP7P13;MIR9901;CCNYL3;UBE2MP1;LOC112268173;LOC105371200;LINC01566 ZNF267 FRG2DP 18 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 16:31985111-31985155 DDD:47053;16:32020000-32026200 gnomAD-SV_v2.1_DUP_16_42021;16:32020000-32096000 gnomAD-SV_v2.1_DUP_16_42022;16:32123333-33664028 DDD:47062;16:32193431-32193767 DDD:47069;16:32232000-32237100 gnomAD-SV_v2.1_DUP_16_42027;16:32328772-32370968 1000g;16:32328772-32370968 dgv504e214;16:32366482-32410672 1000g;16:32366482-32410672 dgv505e214;16:32418984-32469917 1000g;16:32454389-32457877 IMH;16:32486529-32486871 DDD:47082;16:32511180-33912324 dgv821e212;16:32611030-32642738 1000g;16:32611030-32642738 dgv507e214;16:32740800-32750700 gnomAD-SV_v2.1_DUP_16_42037;16:32831660-32863935 1000g;16:32831660-32863935 dgv508e214;16:32903492-32927819 1000g... 16:31749454-34012168 dgv50e203;16:31989000-32033000 gnomAD-SV_v2.1_DUP_16_42016;16:32020000-32096000 TS40:ISCA-46491;16:32055083-33851279 DDD:47058;16:32129166-32904510 DDD:47063;16:32202950-32209100 gnomAD-SV_v2.1_DUP_16_42026;16:32257510-32714406 esv2421440;16:32328772-32370968 1000g;16:32345385-33344188 IMH;16:32366482-32410672 1000g;16:32418984-32469917 1000g;16:32418984-32469917 dgv506e214;16:32473116-32486576 DDD:47080;16:32489448-32622550 dgv4e224;16:32589803-32684945 DDD:47091;16:32611030-32642738 1000g;16:32684868-32688916 DDD:47098;16:32831660-32863935 1000g;16:32831660-32863935 1000g;16:32900256-32908555 nsv514802... 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... 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 (18 genes, +0.00);4O (cf po_B_gain_AllG_source, B_gain_source, po_B_gain_SomeG_source, +0.00);5F (+0.00) 3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 LOC102723753 NR_135178 1 32163432 32199434 36002 0 0 NA 25 txStart-txEnd UTR 32163432 32199434 DDD:47058;DDD:47062;DDD:47063;dgv50e203 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510 0.1314 DDD:47057;DDD:47058;DDD:47062;DDD:47063;dgv50e203 16:31749454-34012168;16:32052946-32496748;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510 0.1692 IMH 16:24121264-80276578;16:29238285-88227116 0.4996 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 HERC2P4 NR_109773 1 32181363 32199434 18071 0 0 NA 14 txStart-txEnd UTR 32181363 32199434 DDD:47058;DDD:47062;DDD:47063;dgv50e203 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510 0.1314 DDD:47057;DDD:47058;DDD:47062;DDD:47063;dgv50e203 16:31749454-34012168;16:32052946-32496748;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510 0.1692 IMH 16:24121264-80276578;16:29238285-88227116 0.4996 100289574 HGNC:4872 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 TP53TG3D NM_001243722 3 32264606 32267249 2643 375 100 no 2 txStart-txEnd 5'UTR-3'UTR 32264606 32267249 DDD:47058;DDD:47062;DDD:47063;dgv50e203;esv2421440 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510;16:32257510-32714406 0.1314 DDD:47057;DDD:47058;DDD:47062;DDD:47063;dgv50e203;esv2421440 16:31749454-34012168;16:32052946-32496748;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510;16:32257510-32714406 0.2300 IMH 16:24121264-80276578;16:29238285-88227116 0.4996 92.49 1.56757328357025 2.11426077975333 729264 HGNC:44657 9 7.5995e-03 6.4106e-01 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 LOC390705 NR_033866 1 32300867 32301302 435 0 0 NA 1 txStart-txEnd UTR 32300867 32301302 DDD:47058;DDD:47062;DDD:47063;dgv50e203;esv2421440 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510;16:32257510-32714406 0.1314 DDD:47057;DDD:47058;DDD:47062;DDD:47063;DDD:47074;dgv50e203;esv2421440 16:31749454-34012168;16:32052946-32496748;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510;16:32257510-32714406;16:32298051-32812316 0.2300 IMH 16:24121264-80276578;16:29238285-88227116 0.4996 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 LOC107987382 NR_171659 1 32611681 32626892 15211 0 0 NA 8 txStart-txEnd UTR 32611681 32626892 1000g;DDD:47058;DDD:47062;DDD:47063;DDD:47091;IMH;dgv507e214;dgv50e203;dgv821e212;esv2421440 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510;16:32257510-32714406;16:32345385-33344188;16:32511180-33912324;16:32589803-32684945;16:32611030-32642738;16:32611030-32642738;16:32611030-32642738 0.8086 DDD:47058;DDD:47062;DDD:47063;DDD:47074;DDD:47081;DDD:47087;DDD:47091;DDD:47092;dbVar;dgv50e203;dgv819e212;esv2421440 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 0.2300 IMH 16:24121264-80276578;16:29238285-88227116;16:32354183-33512427;16:32354247-33512560 0.4996 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 TP53TG3 NM_016212 5 32684850 32687486 2636 375 100 no 2 txStart-txEnd 5'UTR-3'UTR 32684850 32687486 DDD:47058;DDD:47062;DDD:47063;IMH;dgv50e203;dgv821e212;esv2421440 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510;16:32257510-32714406;16:32345385-33344188;16:32511180-33912324 0.3314 DDD:47058;DDD:47062;DDD:47063;DDD:47074;HI40:ISCA-46492;dbVar;dgv50e203;dgv819e212;esv2421440 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 0.2300 IMH 16:24121264-80276578;16:29238285-88227116;16:32354183-33512427;16:32354247-33512560 0.4996 94.39 24150 HGNC:30759 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 SLC6A10P NR_003083 3 32888793 32896463 7670 0 0 NA 9 txStart-txEnd UTR 32888793 32896463 DDD:47058;DDD:47062;DDD:47063;IMH;dgv50e203;dgv821e212 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510;16:32345385-33344188;16:32511180-33912324 0.3314 DDD:47058;DDD:47062;DDD:47063;dgv50e203 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510 0.1692 IMH 16:24121264-80276578;16:29238285-88227116;16:32354183-33512427;16:32354247-33512560 0.4996 386757 HGNC:11043 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 TP53TG3C NM_001205259 3 33205546 33208179 2633 375 100 no 2 txStart-txEnd 5'UTR-3'UTR 33205546 33208179 DDD:47058;DDD:47062;DDD:47113;IMH;dgv50e203;dgv821e212 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32345385-33344188;16:32511180-33912324;16:33204449-33378738 0.3314 DDD:47058;DDD:47062;DDD:47113;dgv50e203 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:33204449-33378738 0.0715 IMH 16:24121264-80276578;16:29238285-88227116;16:32354183-33512427;16:32354247-33512560 0.4996 91.96 653550 HGNC:42962 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 LOC105369266 NR_158162 1 33215160 33232409 17249 0 0 NA 6 txStart-txEnd UTR 33215160 33232409 DDD:47058;DDD:47062;DDD:47113;IMH;dgv50e203;dgv821e212 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32345385-33344188;16:32511180-33912324;16:33204449-33378738 0.3314 DDD:47058;DDD:47062;DDD:47113;dgv50e203 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:33204449-33378738 0.0715 IMH 16:24121264-80276578;16:29238285-88227116;16:32354183-33512427;16:32354247-33512560 0.4996 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 TP53TG3B NM_001099687 4 33262081 33264719 2638 375 100 no 2 txStart-txEnd 5'UTR-3'UTR 33262081 33264719 DDD:47058;DDD:47062;DDD:47113;DDD:47114;IMH;dgv50e203;dgv821e212 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32345385-33344188;16:32511180-33912324;16:33204449-33378738;16:33230271-33739925 0.3314 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 92.24 729355 HGNC:37202 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 LOC107987386 NR_171660 1 33298270 33319296 21026 0 0 NA 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=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 ENPP7P13 NR_130771 1 33571843 33586742 14899 0 0 NA 3 txStart-txEnd UTR 33571843 33586742 DDD:47058;DDD:47062;DDD:47114;DDD:47116;DDD:47126;DDD:47131;DDD:47136;dgv50e203;dgv821e212;nsv514803 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;16:33560604-33662009 0.5150 DDD:47058;DDD:47062;DDD:47114;DDD:47126;dgv50e203 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:33230271-33739925;16:33473790-33628580 0.1243 IMH 16:24121264-80276578;16:29238285-88227116 0.4996 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 MIR9901 NR_162093 1 33966044 33966140 96 0 0 NA 1 txStart-txEnd UTR 33966044 33966140 dgv50e203 16:31749454-34012168 0.0700 dgv50e203 16:31749454-34012168 0.0500 IMH 16:24121264-80276578;16:29238285-88227116 0.4996 113218496 HGNC:53993 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 CCNYL3 NR_158158 1 34264719 34294699 29980 0 0 NA 11 txStart-txEnd UTR 34264719 34294699 TS40:ISCA-37481;dgv51e203;nsv516385 16:34197352-35283226;16:34202089-35147508;16:34259806-34805859 0.0600 HI40:ISCA-37481;dbVar chr16:34197000-34310700;chr16:34197000-34434000;16:34202089-35147508 0.01 IMH 16:24121264-80276578;16:29238285-88227116;16:34180655-46447887;16:34188883-46442460 0.4996 102724928 HGNC:33206 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 UBE2MP1 NR_002837 1 34403801 34404762 961 0 0 NA 1 txStart-txEnd UTR 34403801 34404762 TS40:ISCA-37481;dgv51e203;nsv516385 16:34197352-35283226;16:34202089-35147508;16:34259806-34805859 0.0600 HI40:ISCA-37481;dbVar chr16:34197000-34434000;16:34202089-35147508 0.01 IMH 16:24121264-80276578;16:29238285-88227116;16:34180655-46447887;16:34188883-46442460 0.4996 606551 HGNC:32195 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 LOC112268173 NR_157261 1 34430129 34431919 1790 0 0 NA 1 txStart-txEnd UTR 34430129 34431919 TS40:ISCA-37481;dgv117e55;dgv51e203;nsv516385 16:34197352-35283226;16:34202089-35147508;16:34259806-34805859;16:34410570-34796531 0.0900 HI40:ISCA-37481;dbVar chr16:34197000-34434000;16:34202089-35147508 0.01 IMH 16:24121264-80276578;16:29238285-88227116;16:34180655-46447887;16:34188883-46442460 0.4996 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2 LOC105371200 NR_188627 1 34442319 34479081 36762 0 0 NA 4 txStart-txEnd UTR 34442319 34479081 TS40:ISCA-37481;dgv117e55;dgv2962n100;dgv51e203;nsv516385 16:34197352-35283226;16:34202089-35147508;16:34259806-34805859;16:34410570-34796531;16:34441796-34784591 0.0900 HI40:ISCA-37481 16:34202089-35147508 IMH 16:24121264-80276578;16:29238285-88227116;16:34180655-46447887;16:34188883-46442460 0.4996 full=3
16_31955077_34702366_DUP_1 16 31955077 34702366 2747290 DUP Benign NA split p11.2-p11.1 LINC01566 NR_027080 2 34597786 34626084 28298 0 0 NA 7 txStart-txEnd UTR 34597786 34626084 1000g;DDD:47173;DDD:47179;DDD:47183;TS40:ISCA-37481;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;16:34457086-34712399;16:34457086-34712399;16:34465000-34757000;16:34470705-34757071;16:34471852-34731191;16:34476781-34747070;16:34567146-34656231;16:34572795-34661165 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 HGNC:27555 full=3
16_33371444_34285848_DUP_1 16 33371444 34285848 914405 DUP Benign NA full p11.2 ENPP7P13;MIR9901;CCNYL3 LOC107987386 UBE2MP1 3 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 1.01;1.01;1.02;1.02;1.01;3.02;5.78;20.57;1.57;0.29 dbVar:nssv15141243 16:28826163-34375007 16.48 IMH 16:24121264-80276578;16:29238285-88227116 0.4996 16:32055083-33851279 DDD:47058;16:32511180-33912324 dgv821e212;16:33230271-33739925 DDD:47114;16:33302092-33630727 nsv514803;16:33406659-33406773 IMH;16:33446164-33480261 1000g;16:33464249-33499453 DDD:47125;16:33470756-33495606 1000g;16:33473790-33628580 DDD:47126;16:33484522-33543753 1000g;16:33524566-33570784 1000g;16:33524566-33570784 dgv513e214;16:33560604-33662009 DDD:47136;16:33588533-33626594 1000g;16:33588533-33626594 dgv514e214;16:33870630-33923125 esv3892830;16:33961733-33961778 DDD:47155;16:33983829-34200953 DDD:47158;16:34202089-35147508 TS40:ISCA-37481; 16:31749454-34012168 dgv50e203;16:32123333-33664028 DDD:47062;16:33204449-33378738 DDD:47113;16:33270420-33827235 DDD:47116;16:33376004-33548487 DDD:47124;16:33446164-33480261 1000g;16:33446164-33480261 dgv510e214;16:33470756-33495606 1000g;16:33470756-33495606 dgv511e214;16:33484522-33543753 1000g;16:33484522-33543753 dgv512e214;16:33524566-33570784 1000g;16:33526621-33659628 DDD:47131;16:33582387-33629628 DDD:47138;16:33588533-33626594 1000g;16:33783303-33785890 DDD:47148;16:33879457-33912806 esv3892831;16:33961808-33964212 DDD:47156;16:34197352-35283226 dgv51e203;16:34259806-34805859 nsv516385 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... 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... 0.430 0.365 16:33371221-33371434 AluSz6 16:33241272-33372204;16:33325624-33372204;16:33330495-33372204;16:33330495-33372204;16:33342946-33372204;16:33353245-33373923;16:33355202-33372204;16:33363548-33517471 16:32923001-33427100 High Signal Region 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);2L (CCNYL3, +0.00);3A (3 genes, +0.00);4O (cf po_B_gain_AllG_source, B_gain_source, po_B_gain_SomeG_source, +0.00);5F (+0.00) 3
16_33371444_34285848_DUP_1 16 33371444 34285848 914405 DUP Benign NA split p11.2 ENPP7P13 NR_130771 1 33571843 33586742 14899 0 0 NA 3 txStart-txEnd UTR 33571843 33586742 DDD:47058;DDD:47062;DDD:47114;DDD:47116;DDD:47126;DDD:47131;DDD:47136;dgv50e203;dgv821e212;nsv514803 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;16:33560604-33662009 0.5150 DDD:47058;DDD:47062;DDD:47114;DDD:47126;dgv50e203 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:33230271-33739925;16:33473790-33628580 0.1243 IMH 16:24121264-80276578;16:29238285-88227116 0.4996 full=3
16_33371444_34285848_DUP_1 16 33371444 34285848 914405 DUP Benign NA split p11.2 MIR9901 NR_162093 1 33966044 33966140 96 0 0 NA 1 txStart-txEnd UTR 33966044 33966140 dgv50e203 16:31749454-34012168 0.0700 dgv50e203 16:31749454-34012168 0.0500 IMH 16:24121264-80276578;16:29238285-88227116 0.4996 113218496 HGNC:53993 full=3
16_33371444_34285848_DUP_1 16 33371444 34285848 914405 DUP Benign NA split p11.2 CCNYL3 NR_158158 1 34264719 34294699 21129 0 0 NA 11 txStart-intron9 UTR 82 5' 34264719 34285848 TS40:ISCA-37481;dgv51e203;nsv516385 16:34197352-35283226;16:34202089-35147508;16:34259806-34805859 0.0600 HI40:ISCA-37481;dbVar chr16:34197000-34310700;chr16:34197000-34434000;16:34202089-35147508 0.01 IMH 16:24121264-80276578;16:29238285-88227116;16:34180655-46447887;16:34188883-46442460 0.4996 102724928 HGNC:33206 full=3
5_723195_777000_DUP_1 5 723195 777000 53806 DUP Benign NA full p15.33 ZDHHC11B TPPP ZDHHC11 1 NDUFS6 (morbid/RE=ABC_enhancer);SDHA (morbid/RE=EA_enhancer);SLC9A3 (morbid/RE=GH_enhancer);TRIP13 (morbid/RE=ABC_enhancer+EA_enhancer) 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 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 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 5p15 terminal (Cri du chat syndrome) region 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 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 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 DDD:16279;DDD:16284;dgv131e203 5:653582-875018;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 5:686604-840273 DDD:16279;5:714989-733938 1000g;5:714989-733938 1000g;5:717638-748444 DDD:16285;5:757677-778933 1000g;5:757677-778933 1000g;5:763398-838450 DDD:16291 5:653582-875018 dgv131e203;5:708603-865477 DDD:16284;5:714989-733938 1000g;5:714989-733938 dgv1061e214;5:754104-754760 IMH;5:757677-778933 1000g;5:757677-778933 dgv1062e214 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; 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 0.395 0.580 5:721917-723166 L1ME3F 5:686123-731394 5:770128-777143 98.37 0.535222227518795 -0.0274451648003615 8 3.6787e-13 4.3228e-02 0.0 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);4O (cf po_B_gain_AllG_source, B_gain_source, po_B_gain_SomeG_source, +0.00);5F (+0.00) 3
5_723195_777000_DUP_1 5 723195 777000 53806 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;dgv131e203 5:653582-875018;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 98.37 0.535222227518795 -0.0274451648003615 653082 HGNC:32962 8 3.6787e-13 4.3228e-02 full=3
7_38296177_38352444_DEL_1 7 38296177 38352444 -56268 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 7:38283523-38309532 DDD:23873 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 -56268 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 -584093 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 FAM90A20 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 8:6959834-8600711 esv2764098;8:7024892-8031414 DDD:26674;8:7053187-8130689 TS40:ISCA-37472;8:7170611-7177489 nsv515099;8:7201176-7392220 DDD:26689;8:7212583-7227421 1000g;8:7212583-7227421 TS40:ISCA-46631;8:7241528-7403182 nsv515100;8:7308244-7308706 DDD:26704;8:7632945-7856630 DDD:26727;8:7717878-7717938 DDD:26737;8:7734213-7856702 DDD:26743;8:7737000-7743100 gnomAD-SV_v2.1_DUP_8_23708;8:6959834-8600711 esv2764098;8:7024892-8031414 DDD:26674;8:7053187-8130689 TS40:ISCA-37472;8:7170611-7177489 nsv515099;8:7201176-7392220 DDD:26689;8:7212583-7227421 1000g;8:7212583-7227421 TS40:ISCA-46631... 8:6858816-8072303 esv2761169;8:6985776-7230992 DDD:26670;8:7035907-7428513 DDD:26675;8:7154889-7213289 DDD:26682;8:7190891-7190961 DDD:26685;8:7212583-7227421 1000g;8:7212583-7227421 1000g;8:7212583-7227421 dgv1365e214;8:7250369-7832042 dgv6936n100;8:7401394-7472190 DDD:26720;8:7634705-7829839 DDD:26729;8:7718891-7784263 DDD:26742;8:7737000-7743100 TS40:ISCA-46381;8:6858816-8072303 esv2761169;8:6985776-7230992 DDD:26670;8:7035907-7428513 DDD:26675;8:7154889-7213289 DDD:26682;8:7190891-7190961 DDD:26685;8:7212583-7227421 1000g;8:7212583-7227421 1000g... 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... 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 -584093 DEL Benign NA split p23.1 FAM66B NR_027423 2 7156265 7212885 43395 0 0 NA 7 txStart-intron6 UTR 9797 3' 7169490 7212885 DDD:26670;DDD:26674;DDD:26675;DDD:26682;TS40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289 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 HGNC:28890 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289 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 HGNC:33469 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289 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 HGNC:37182 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289 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 HGNC:37176 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7201176-7392220 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 91.1 -1.59751875296103 -3.97736276921453 100131980 HGNC:37134 9 1.6471e-08 4.2486e-09 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 99.72 100289462 HGNC:30193 9 6.7977e-02 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 85.97 55894 HGNC:31702 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 89.4 2.14121257165536 1.8677219993927 10407 HGNC:14534 9 2.7751e-02 4.7238e-02 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 95.66 503618 HGNC:26165 9 3.3176e-01 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 93.29 503841 HGNC:28879 9 8.1151e-02 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 90.95 504180 HGNC:29930 9 2.9184e-01 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 91.71 503614 HGNC:31918 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 100131608 HGNC:49420 8 4.2180e-01 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7250369-7832042;8:7401394-7472190 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 HGNC:32255 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7401394-7472190 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 HGNC:32270 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7401394-7472190 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 HGNC:32271 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 645651 HGNC:32262 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441326 HGNC:32266 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441323 HGNC:32264 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441324 HGNC:32256 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 728746 HGNC:32265 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 728753 HGNC:32267 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441327 HGNC:32257 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441328 HGNC:32258 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 HGNC:49396 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 92.48 245910 HGNC:18086 9 3.2633e-01 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 HGNC:18087 8 3.7719e-01 4.3625e-01 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 HGNC:18088 9 8.5821e-03 4.0931e-01 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 HGNC:18115 9 9.3748e-02 5.1947e-01 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 HGNC:33342 9 6.9645e-05 3.9012e-02 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;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;8:7632945-7856630;8:7634705-7829839;8:7718891-7784263;8:7734213-7856702;8:7737000-7743100;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 HGNC:15967 full=3
8_7169491_7753583_DEL_1 8 7169491 7753583 -584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 HGNC:2767 9 1.1637e-03 3.9981e-01 full=3
1_149041934_149209289_DEL_1 1 149041934 149209289 -167356 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;dgv4e203;nsv514006 1:147929337-149801433;1:148050780-149739249;1:148867552-149768855;1:149034710-149405578;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;1:149071635-149169501 1000g;1:149151839-149203736 1000g;1:149207861-149218152 1000g; 1:147929337-149801433 dgv4e203;1:148867552-149768855 TS40:ISCA-37469;1:149036513-149244464 nsv514006;1:149071635-149169501 esv3587467;1:149151839-149203736 esv3587470;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 -167356 DEL Benign NA split q21.2 RNVU1-17 NR_104078 1 149194105 149194269 164 0 0 NA 1 txStart-txEnd UTR 149194105 149194269 1000g;DDD:2784;DDD:2806;TS40:ISCA-37469;dgv4e203;esv3587470;nsv514006 1:147929337-149801433;1:148050780-149739249;1:148867552-149768855;1:149034710-149405578;1:149036513-149244464;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 HGNC:48322 full=1
1_248738899_248785562_DEL_1 1 248738899 248785562 -46664 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 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 1:248756742-248797597 1000g 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 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
1_248738899_248785562_DEL_1 1 248738899 248785562 -46664 DEL Benign NA split q44 OR2T10 NM_001004693 2 248753787 248761001 7214 939 97 no 2 txStart-txEnd 5'UTR-3'UTR 248753787 248761001 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 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 0.2767 IMH 1:248596196-248822398;1:248601499-248817009;1:248601686-248817033;1:248602851-248816084;1:248606626-248811646;1:248609654-248808661 0.4394 92.08 0.553342166544692 -0.565086620797697 127069 HGNC:19573 9 6.5559e-04 1.5575e-04 full=1
10_46976158_47590995_DUP_1 10 46976158 47590995 614838 DUP Benign NA full q11.22 GPRIN2;NPY4R;LINC00842;HNRNPA1P33;ANXA8L1;FAM25BP;AGAP14P;SHLD2P3;ANTXRLP1 SYT15 LOC105378577 9 GDF2 (morbid/RE=ABC_enhancer) 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 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 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 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 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 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 DDD:32922;dgv221e212;dgv24e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46943378-47742094;10:46966535-48298893 0.1100 DDD:32922;dgv23e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46943378-47742094 0.0260 IMH 10:46257220-51811936 0.0179 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 dgv116e214;10:47007971-47086710 1000g;10:47007971-47086710 dgv117e214;10:47089973-47150813 1000g;10:47089973-47150813 dgv118e214;10:47321000-47396000 gnomAD-SV_v2.1_DUP_10_29724;10:47383858-47395064 1000g;10:47383858-47395064 dgv119e214;10:47394950-47400600 gnomAD-SV_v2.1_DUP_10_29727;10:47424000-47429050 gnomAD-SV_v2.1_DUP_10_29730;10:47531023-47599037 1000g;10:47531764-47597768 TS40:ISCA-46639;10:47537369-47652803 esv2421526;10:47543323-47703613 dgv85n27;10:47565000-47570000 gnomAD-SV_v2.1_DUP_10_29733... 10:46109534-48312291 nsv516485;10:46923704-47138897 DDD:32934;10:46931470-47201116 DDD:32937;10:46943378-47742094 dgv24e55;10:46976293-47023561 1000g;10:46976293-47023561 1000g;10:47007971-47086710 1000g;10:47007971-47086710 1000g;10:47089973-47150813 1000g;10:47089973-47150813 1000g;10:47150450-47160300 gnomAD-SV_v2.1_DUP_10_29721;10:47370500-47380000 gnomAD-SV_v2.1_DUP_10_29725;10:47383858-47395064 1000g;10:47389000-47395000 gnomAD-SV_v2.1_DUP_10_29726;10:47412000-47429100 gnomAD-SV_v2.1_DUP_10_29729;10:47530000-47578125 gnomAD-SV_v2.1_DUP_10_29731;10:47531023-47599037 dgv120e214;10:47534700-47555100 gnomAD-SV_v2.1_DUP_10_29732;10:47539193-47885867 DDD:32970;10:47545737-47759694 DDD:32972... 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... 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... 0.415 0.500 10:46976181-46976437 LTR78 10:47590101-47594293;10:47590101-47594293 89.5 -2.98697085794417 -2.90416172871297 8 3.3439e-01 2.9629e-04 -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 (ANTXRLP1, +0.00);3A (9 genes, +0.00);4O (cf po_B_gain_AllG_source, B_gain_source, po_B_gain_SomeG_source, +0.00);5F (+0.00) 1
10_46976158_47590995_DUP_1 10 46976158 47590995 614838 DUP Benign NA split q11.22 GPRIN2 NM_001385287 1 46992020 47007881 15861 1449 100 no 4 txStart-txEnd 5'UTR-3'UTR 46992020 47007881 1000g;DDD:32922;DDD:32934;DDD:32936;DDD:32937;dgv116e214;dgv221e212;dgv22e55;dgv24e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46923704-47138897;10:46931463-47389066;10:46931470-47201116;10:46943378-47136996;10:46943378-47742094;10:46966535-48298893;10:46976293-47023561;10:46976293-47023561;10:46976293-47023561;10:46976293-47023561 0.9544 DDD:32922;DDD:32937;dgv23e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46931470-47201116;10:46943378-47742094 0.0260 IMH 10:46257220-51811936 0.0179 82.54 -3.10473776124822 -3.32991530871711 9721 HGNC:23730 8 3.8557e-06 2.9629e-04 full=1
10_46976158_47590995_DUP_1 10 46976158 47590995 614838 DUP Benign NA split q11.22 NPY4R NM_001278794 2 47083456 47088320 4864 1128 73 no 2 txStart-txEnd 5'UTR-3'UTR 47083456 47088320 DDD:32922;DDD:32934;DDD:32936;DDD:32937;dgv221e212;dgv22e55;dgv24e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46923704-47138897;10:46931463-47389066;10:46931470-47201116;10:46943378-47136996;10:46943378-47742094;10:46966535-48298893 0.1100 DDD:32922;DDD:32937;dgv23e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46931470-47201116;10:46943378-47742094 0.0260 IMH 10:46257220-51811936 0.0179 66.73 -2.98697085794417 -2.90416172871297 5540 HGNC:9329 8 8.2144e-07 6.1160e-09 full=1
10_46976158_47590995_DUP_1 10 46976158 47590995 614838 DUP Benign NA split q11.22 LINC00842 NR_033957 2 47096453 47151400 54947 0 0 NA 4 txStart-txEnd UTR 47096453 47151400 DDD:32922;DDD:32936;DDD:32937;dgv221e212;dgv24e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46931463-47389066;10:46931470-47201116;10:46943378-47742094;10:46966535-48298893 0.1100 DDD:32922;DDD:32937;dgv23e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46931470-47201116;10:46943378-47742094 0.0260 IMH 10:46257220-51811936 0.0179 643650 HGNC:44989 full=1
10_46976158_47590995_DUP_1 10 46976158 47590995 614838 DUP Benign NA split q11.22 HNRNPA1P33 NR_003277 2 47133334 47133898 564 0 0 NA 1 txStart-txEnd UTR 47133334 47133898 1000g;DDD:32922;DDD:32934;DDD:32936;DDD:32937;dgv118e214;dgv221e212;dgv22e55;dgv24e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46923704-47138897;10:46931463-47389066;10:46931470-47201116;10:46943378-47136996;10:46943378-47742094;10:46966535-48298893;10:47089973-47150813;10:47089973-47150813;10:47089973-47150813;10:47089973-47150813 0.9544 DDD:32922;DDD:32937;dgv23e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46931470-47201116;10:46943378-47742094 0.0260 IMH 10:46257220-51811936 0.0179 728643 HGNC:44990 full=1
10_46976158_47590995_DUP_1 10 46976158 47590995 614838 DUP Benign NA split q11.22 ANXA8L1 NM_001098845 3 47157988 47173994 16006 984 100 no 12 txStart-txEnd 5'UTR-3'UTR 47157988 47173994 DDD:32922;DDD:32936;DDD:32937;dgv221e212;dgv24e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46931463-47389066;10:46931470-47201116;10:46943378-47742094;10:46966535-48298893 0.1100 DDD:32922;DDD:32937;dgv23e55;esv2663732;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46931470-47201116;10:46943378-47742094;10:47150446-47326492 0.0400 IMH 10:46257220-51811936 0.0179 75.66 728113 HGNC:23334 9 3.3439e-01 full=1
10_46976158_47590995_DUP_1 10 46976158 47590995 614838 DUP Benign NA split q11.22 FAM25BP NR_104039 1 47177206 47181688 4482 0 0 NA 3 txStart-txEnd UTR 47177206 47181688 DDD:32922;DDD:32936;DDD:32937;dgv221e212;dgv24e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46931463-47389066;10:46931470-47201116;10:46943378-47742094;10:46966535-48298893 0.1100 DDD:32922;DDD:32937;dgv23e55;esv2663732;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46931470-47201116;10:46943378-47742094;10:47150446-47326492 0.0400 IMH 10:46257220-51811936 0.0179 89.5 100132929 HGNC:23584 full=1
10_46976158_47590995_DUP_1 10 46976158 47590995 614838 DUP Benign NA split q11.22 AGAP14P NR_165820 1 47192907 47213477 20570 0 0 NA 8 txStart-txEnd UTR 47192907 47213477 DDD:32922;DDD:32936;dgv221e212;dgv24e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46931463-47389066;10:46943378-47742094;10:46966535-48298893 0.1100 DDD:32922;dgv23e55;esv2663732;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46943378-47742094;10:47150446-47326492 0.0400 IMH 10:46257220-51811936 0.0179 653259 HGNC:23660 full=1
10_46976158_47590995_DUP_1 10 46976158 47590995 614838 DUP Benign NA split q11.22 SHLD2P3 NR_027634 1 47379719 47421238 41519 0 0 NA 7 txStart-txEnd UTR 47379719 47421238 DDD:32922;dgv221e212;dgv24e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46943378-47742094;10:46966535-48298893 0.1100 DDD:32922;dgv23e55;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46943378-47742094 0.0260 IMH 10:46257220-51811936 0.0179 439965 HGNC:34038 full=1
10_46976158_47590995_DUP_1 10 46976158 47590995 614838 DUP Benign NA split q11.22 ANTXRLP1 NR_103827 1 47590260 47640844 735 0 0 NA 5 intron4-txEnd UTR 53 3' 47590260 47590995 1000g;DDD:32922;DDD:32970;DDD:32972;TS40:ISCA-46639;dgv120e214;dgv221e212;dgv24e55;dgv85n27;esv2421526;gnomAD-SV_v2.1_DUP_10_29734;nsv516485 10:46109534-48312291;10:46416327-47756284;10:46943378-47742094;10:46966535-48298893;10:47531023-47599037;10:47531023-47599037;10:47531764-47597768;10:47537369-47652803;10:47539193-47885867;10:47543323-47703613;10:47545737-47759694;10:47585775-47727500 0.1100 1000g;DDD:32922;dbVar;dgv23e55;esv2421526;esv3623125;gnomAD-SV_v2.1_DEL_10_110010;nsv516485 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 0.0318 IMH 10:46257220-51811936 0.0179 100996567 HGNC:45004 full=1
14_22323880_22952279_DEL_1 14 22323880 22952279 -628400 DEL Benign NA full q11.2 TRD-AS1 OR4E1 LINC02332 1 CHD8 (HI=3/morbid/RE=GH_enhancer+GH_promoter_enhancer);MMP14 (morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer+GH_promoter_enhancer);PABPN1 (morbid/RE=GH_enhancer+GH_promoter_enhancer);SLC7A7 (morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer+GH_promoter_enhancer);SUPT16H (morbid/RE=GH_enhancer+GH_promoter_enhancer) 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 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 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 dbVar:nssv15119819;dbVar:nssv15145699;dbVar:nssv18330314;dbVar:nssv16208379;dbVar:nssv17976070 14:20223409-23210490;14:20665105-45754005;14:20690197-23114522;14:21143934-23297667;14:21162264-50713602 21.04;2.50;25.92;29.18;2.13 TS40:ISCA-37476 14:22111110-23021097 HI40:ISCA-37476 14:22111110-23021097 14:22420175-22995788 dgv594e212;14:22824113-22824253 IMH 14:22111110-23021097 TS40:ISCA-37476;14:22558879-22977816 dgv598e212 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... 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... 0.250 0.390 -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
14_22323880_22952279_DEL_1 14 22323880 22952279 -628400 DEL Benign NA split q11.2 TRD-AS1 NR_148361 1 22847807 22951948 104141 0 0 NA 5 txStart-txEnd UTR 22847807 22951948 TS40:ISCA-37476;dgv594e212;dgv598e212 14:22111110-23021097;14:22420175-22995788;14:22558879-22977816 0.0200 DDD:42190;HI40:ISCA-37476;dgv599e212 14:22111110-23021097;14:22549070-22959340;14:22558879-22995788 0.0107 105370401 HGNC:56197 full=1
14_74001652_74022324_DEL_1 14 74001652 74022324 -20673 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;dgv655e212;dgv657e212 14:73995762-74031034;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 14:73998504-74050492 DDD:43163;14:74001655-74002844 DDD:43168;14:74007603-74039880 IMH;14:74007864-74040335 IMH;14:74008288-74008463 nsv514748;14:74011084-74024007 1000g;14:74011084-74024007 dgv407e214; 14:73995762-74031034 dgv655e212;14:74001111-74024031 dgv657e212;14:74001655-74004589 DDD:43169;14:74007816-74040003 IMH;14:74007919-74039902 gnomAD-SV_v2.1_DUP_14_38740;14:74010621-74023183 DDD:43174;14:74011084-74024007 1000g;14:74020544-74030798 DDD:43176 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 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 -20673 DEL Benign NA split q24.3 HEATR4 NM_001220484 1 73945188 74025651 20673 0 0 NA 18 intron1-intron1 5'UTR 3130 5' 74001651 74022324 DDD:43163;dgv655e212;dgv657e212 14:73995762-74031034;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 85.75 -0.328810289068687 -0.503765753071617 399671 HGNC:16761 6 1.3711e-29 6.2323e-17 full=1
14_74001652_74022324_DEL_1 14 74001652 74022324 -20673 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;dgv655e212;dgv657e212 14:73995762-74031034;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 HGNC:33128 8 6.4141e-05 3.5999e-02 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 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);PHF12 (HI=3/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)... 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;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;15:20650251-20710056 nsv514763;15:20717000-20724000 gnomAD-SV_v2.1_DUP_15_39413;15:20749534-20773538 DDD:44053;15:20779661-20885221 DDD:44055;15:20786000-20827000 gnomAD-SV_v2.1_DUP_15_39420;15:20846722-20867075 1000g;15:20846722-20867075 1000g;15:20846722-20867075 1000g;15:20935077-20960284 nsv514764;15:21069662-21311925 DDD:44068;15:21153622-21170901 nsv514766... 15:20016329-23487546 dgv40e203;15:20144627-21266621 DDD:43992;15:20167087-22588036 dgv92e55;15:20182203-22608281 DDD:44001;15:20388742-22207639 TS40:ISCA-46686;15:20556528-20624827 DDD:44039;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 dgv430e214;15:20686000-20711550 gnomAD-SV_v2.1_DUP_15_39411;15:20746872-20747023 DDD:44052;15:20751226-21293606 esv3892595;15:20783000-20799000 gnomAD-SV_v2.1_DUP_15_39419;15:20846722-20867075 1000g;15:20846722-20867075 1000g;15:20846722-20867075 1000g;15:20846722-20867075 dgv431e214;15:21040437-21077011 nsv514765;15:21145102-21164300 TS40:ISCA-46688... 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... 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);4O (cf po_B_gain_AllG_source, B_gain_source, po_B_gain_SomeG_source, +0.00);5F (+0.00) 1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.1 CHEK2P2 NR_038836 1 20487996 20496811 8815 0 0 NA 6 txStart-txEnd UTR 20487996 20496811 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;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;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 HGNC:43578 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.1-q11.2 HERC2P3 NR_036432 1 20613648 20711433 97785 0 0 NA 26 txStart-txEnd UTR 20613648 20711433 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;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;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 HGNC:4871 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 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;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;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 HGNC:37225 8 2.2875e-19 8.6864e-02 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 GOLGA8CP NR_027411 2 20767673 20781026 13353 0 0 NA 18 txStart-txEnd UTR 20767673 20781026 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;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;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 HGNC:32375 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 NBEAP1 NR_027992 1 20874796 20961480 86684 0 0 NA 3 txStart-txEnd UTR 20874796 20961480 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;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;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 606 HGNC:1007 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 MIR3118-2 NR_036062 2 21038123 21038198 75 0 0 NA 1 txStart-txEnd UTR 21038123 21038198 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;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;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 100422949 HGNC:38324 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 POTEB2 NM_001277303 1 21040700 21071643 30943 1635 100 no 11 txStart-txEnd 5'UTR-3'UTR 21040700 21071643 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv91e55;dgv92e55;dgv93e55;esv3892595;nsv514765 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;15:21040437-21077011 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 92.58 2.22375841006203 2.58284576037233 100287399 HGNC:48327 8 4.2457e-02 5.7189e-01 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 MIR5701-1 NR_049886 1 21145580 21145662 82 0 0 NA 1 txStart-txEnd UTR 21145580 21145662 DDD:43986;DDD:43992;DDD:44001;DDD:44068;TS40:ISCA-46686;TS40:ISCA-46688;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;15:20203950-22588019;15:20388742-22207639;15:20751226-21293606;15:21069662-21311925;15:21145102-21164300 0.3900 DDD:43992;DDD:44001;DDD:44068;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20144627-21266621;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21069662-21311925 0.2710 100847060 HGNC:43522 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 LINC01193 NR_040094 1 21145766 21198633 52867 0 0 NA 5 txStart-txEnd UTR 21145766 21198633 DDD:43986;DDD:43992;DDD:44001;DDD:44068;TS40:ISCA-46686;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;15:20203950-22588019;15:20388742-22207639;15:20751226-21293606;15:21069662-21311925 0.3900 DDD:43992;DDD:44001;DDD:44068;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20144627-21266621;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21069662-21311925 0.2710 348120 HGNC:28003 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 FAM30C NR_145444 1 21208605 21255165 46560 0 0 NA 4 txStart-txEnd UTR 21208605 21255165 DDD:43992;DDD:44001;DDD:44068;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv92e55;dgv93e55;esv3892595 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 0.3900 DDD:43992;DDD:44001;DDD:44068;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20144627-21266621;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21069662-21311925 0.2710 654499 HGNC:31024 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 LOC646214 NR_027053 2 21932513 21940739 8226 0 0 NA 1 txStart-txEnd UTR 21932513 21940739 DDD:44001;DDD:44096;DDD:44097;DDD:44098;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:20388742-22207639;15:21399090-22661412;15:21904679-21949433;15:21906623-22142846 0.3900 DDD:44001;DDD:44096;DDD:44097;DDD:44098;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:21904679-21949433;15:21906623-22142846 0.1300 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 CXADRP2 NR_024387 1 22014402 22016878 2476 0 0 NA 1 txStart-txEnd UTR 22014402 22016878 DDD:44001;DDD:44096;DDD:44098;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:20388742-22207639;15:21399090-22661412;15:21906623-22142846 0.3900 DDD:44001;DDD:44096;DDD:44098;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:21906623-22142846 0.1300 646243 HGNC:33973 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 POTEB NM_001277304 2 22051852 22083259 31407 1635 100 no 11 txStart-txEnd 5'UTR-3'UTR 22051852 22083259 DDD:44001;DDD:44096;DDD:44098;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:20388742-22207639;15:21399090-22661412;15:21906623-22142846 0.3900 DDD:44001;DDD:44096;DDD:44098;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:21906623-22142846 0.1300 91.86 100996331 HGNC:33734 9 3.5277e-01 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 NF1P2 NR_028506 2 22133180 22145802 12622 0 0 NA 8 txStart-txEnd UTR 22133180 22145802 DDD:44001;DDD:44096;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:20388742-22207639;15:21399090-22661412 0.3900 DDD:44001;DDD:44096;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412 0.1300 440225 HGNC:38664 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 LINC02203 NR_152818 1 22195582 22199978 4396 0 0 NA 3 txStart-txEnd UTR 22195582 22199978 DDD:44001;DDD:44096;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:20388742-22207639;15:21399090-22661412 0.3900 DDD:44001;DDD:44096;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412 0.1300 727924 HGNC:53069 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 OR4M2-OT1 NR_110480 1 22278030 22383564 105534 0 0 NA 9 txStart-txEnd UTR 22278030 22383564 DDD:44001;DDD:44096;dgv2191n100;dgv3e224;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:21399090-22661412;15:22267463-22591752 0.3900 DDD:44001;DDD:44096;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412 0.1300 101927079 HGNC:56199 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 OR4M2 NM_001004719 2 22368477 22369561 1084 942 95 no 1 txStart-txEnd 5'UTR-3'UTR 22368477 22369561 1000g;DDD:44001;DDD:44096;DDD:44106;DDD:44113;DDD:44114;DDD:44119;dgv2191n100;dgv3e224;dgv40e203;dgv435e214;dgv92e55;dgv93e55;nsv514767 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:21399090-22661412;15:22267463-22591752;15:22278200-22574827;15:22304657-22588026;15:22307890-22657533;15:22308418-22455534;15:22343966-22372302;15:22343966-22372302;15:22343966-22372302;15:22343966-22372302;15:22343966-22372302;15:22343966-22372302;15:22360686-22387071 0.4271 DDD:44001;DDD:44096;DDD:44113;DDD:44114;DDD:44119;dbVar;dgv100e55;dgv2373n100;dgv40e203;dgv94e55;dgv96e55;nsv514767 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:22280466-22588019;15:22304657-22588026;15:22307890-22657533;15:22308418-22455534;15:22320058-22588019;chr15:22343965-22372302;15:22360686-22387071 0.1300 76.23 390538 HGNC:15373 9 3.9447e-08 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 OR4N4 NM_001005241 4 22382472 22383813 1341 951 100 no 1 txStart-txEnd 5'UTR-3'UTR 22382472 22383813 DDD:44001;DDD:44096;DDD:44106;DDD:44113;DDD:44114;DDD:44119;dgv2191n100;dgv3e224;dgv40e203;dgv92e55;dgv93e55;nsv514767 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:21399090-22661412;15:22267463-22591752;15:22278200-22574827;15:22304657-22588026;15:22307890-22657533;15:22308418-22455534;15:22360686-22387071 0.4271 DDD:44001;DDD:44096;DDD:44113;DDD:44114;DDD:44119;dgv100e55;dgv2373n100;dgv40e203;dgv94e55;dgv96e55;nsv514767 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:22280466-22588019;15:22304657-22588026;15:22307890-22657533;15:22308418-22455534;15:22320058-22588019;15:22360686-22387071 0.1300 75.33 -0.271906921498889 -0.565772314050669 283694 HGNC:15375 9 5.1332e-05 1.8051e-02 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 OR4N3P NR_028067 1 22413461 22414398 937 0 0 NA 1 txStart-txEnd UTR 22413461 22414398 1000g;DDD:44001;DDD:44096;DDD:44106;DDD:44113;DDD:44114;DDD:44129;dgv2191n100;dgv3e224;dgv40e203;dgv437e214;dgv92e55;dgv93e55;nsv514767 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:21399090-22661412;15:22267463-22591752;15:22278200-22574827;15:22304657-22588026;15:22307890-22657533;15:22308418-22455534;15:22383478-22434169;15:22383478-22434169;15:22383478-22434169;15:22383478-22434169;15:22383478-22434169;15:22411349-22577661 0.4271 DDD:44001;DDD:44096;DDD:44113;DDD:44114;DDD:44129;dbVar;dgv100e55;dgv2373n100;dgv40e203;dgv94e55;dgv96e55;nsv514767 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:22280466-22588019;15:22304657-22588026;15:22307890-22657533;15:22308418-22455534;15:22320058-22588019;chr15:22383477-22434169;15:22411349-22577661 0.1300 390539 HGNC:15374 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 IGHV1OR15-1 NR_135694 1 22448239 22448881 642 0 0 NA 2 txStart-txEnd UTR 22448239 22448881 1000g;DDD:44001;DDD:44096;DDD:44106;DDD:44113;DDD:44114;DDD:44129;dgv2191n100;dgv3e224;dgv40e203;dgv438e214;dgv92e55;dgv93e55;nsv514767 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:21399090-22661412;15:22267463-22591752;15:22278200-22574827;15:22304657-22588026;15:22307890-22657533;15:22308418-22455534;15:22411349-22577661;15:22446740-22506103;15:22446740-22506103;15:22446740-22506103;15:22446740-22506103;15:22446740-22506103 0.4271 DDD:44001;DDD:44096;DDD:44113;DDD:44114;DDD:44129;dbVar;dgv100e55;dgv2373n100;dgv40e203;dgv94e55;dgv96e55;nsv514767 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:22280466-22588019;15:22304657-22588026;15:22307890-22657533;15:22308418-22455534;15:22320058-22588019;15:22411349-22577661;chr15:22446739-22506103 0.1300 388077 HGNC:5563 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 IGHV1OR15-3 NR_135666 1 22465805 22466547 742 0 0 NA 2 txStart-txEnd UTR 22465805 22466547 1000g;DDD:44001;DDD:44096;DDD:44106;DDD:44113;DDD:44129;dgv2191n100;dgv3e224;dgv40e203;dgv438e214;dgv92e55;dgv93e55;nsv514767 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:21399090-22661412;15:22267463-22591752;15:22278200-22574827;15:22304657-22588026;15:22307890-22657533;15:22411349-22577661;15:22446740-22506103;15:22446740-22506103;15:22446740-22506103;15:22446740-22506103;15:22446740-22506103 0.4271 DDD:44001;DDD:44096;DDD:44113;DDD:44129;dbVar;dgv100e55;dgv2373n100;dgv40e203;dgv94e55;dgv96e55;nsv514767 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:22280466-22588019;15:22304657-22588026;15:22307890-22657533;15:22320058-22588019;15:22411349-22577661;chr15:22446739-22506103 0.1300 646370 HGNC:5565 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 MIR1268A NR_031672 1 22513228 22513280 52 0 0 NA 1 txStart-txEnd UTR 22513228 22513280 DDD:44001;DDD:44096;DDD:44106;DDD:44113;DDD:44129;dgv2191n100;dgv3e224;dgv40e203;dgv92e55;dgv93e55;nsv514767 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:21399090-22661412;15:22267463-22591752;15:22278200-22574827;15:22304657-22588026;15:22307890-22657533;15:22411349-22577661 0.4271 DDD:44001;DDD:44096;DDD:44113;DDD:44129;DDD:44139;dgv100e55;dgv2373n100;dgv40e203;dgv94e55;dgv96e55;nsv514767 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:22280466-22588019;15:22304657-22588026;15:22307890-22657533;15:22320058-22588019;15:22411349-22577661;15:22475646-22537915 0.1300 100302233 HGNC:35336 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 REREP3 NR_033735 1 22546564 22570831 24267 0 0 NA 3 txStart-txEnd UTR 22546564 22570831 DDD:44001;DDD:44096;DDD:44106;DDD:44113;DDD:44129;DDD:44147;dgv2191n100;dgv3e224;dgv40e203;dgv92e55;dgv93e55;nsv514767 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:21399090-22661412;15:22267463-22591752;15:22278200-22574827;15:22304657-22588026;15:22307890-22657533;15:22411349-22577661;15:22519942-22726364 0.4271 DDD:44001;DDD:44096;DDD:44113;DDD:44129;DDD:44147;dgv100e55;dgv2373n100;dgv40e203;dgv94e55;dgv96e55;nsv514767 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:22280466-22588019;15:22304657-22588026;15:22307890-22657533;15:22320058-22588019;15:22411349-22577661;15:22519942-22726364 0.1300 646396 HGNC:38797 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 MIR4509-1 NR_039732 1 22675147 22675241 94 0 0 NA 1 txStart-txEnd UTR 22675147 22675241 DDD:44147;DDD:44168;dgv40e203;dgv93e55 15:20016329-23487546;15:20167087-22869764;15:22519942-22726364;15:22650162-22738662 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 HGNC:41860 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 DUP Benign NA split q11.2 GOLGA8DP NR_027407 1 22702284 22715728 13444 0 0 NA 18 txStart-txEnd UTR 22702284 22715728 DDD:44147;DDD:44168;dgv40e203;dgv93e55 15:20016329-23487546;15:20167087-22869764;15:22519942-22726364;15:22650162-22738662 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 HGNC:32376 full=1
15_20432852_22765687_DUP_1 15 20432852 22765687 2332836 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 dgv40e203;dgv93e55 15:20016329-23487546;15:20167087-22869764 0.1500 dgv40e203;dgv94e55 15:20016329-23487546;15:20167087-23222284 0.1000 IMH 15:22658037-28688749 0.1570 93.48 283767 HGNC:37444 8 2.3586e-12 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 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);PHF12 (HI=3/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;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;15:20650251-20710056 nsv514763;15:20717000-20724000 gnomAD-SV_v2.1_DUP_15_39413;15:20749534-20773538 DDD:44053;15:20779661-20885221 DDD:44055;15:20786000-20827000 gnomAD-SV_v2.1_DUP_15_39420;15:20846722-20867075 1000g;15:20846722-20867075 1000g;15:20846722-20867075 1000g;15:20935077-20960284 nsv514764;15:21069662-21311925 DDD:44068;15:21153622-21170901 nsv514766... 15:20016329-23487546 dgv40e203;15:20144627-21266621 DDD:43992;15:20167087-22588036 dgv92e55;15:20182203-22608281 DDD:44001;15:20388742-22207639 TS40:ISCA-46686;15:20556528-20624827 DDD:44039;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 1000g;15:20598943-20625797 dgv430e214;15:20686000-20711550 gnomAD-SV_v2.1_DUP_15_39411;15:20746872-20747023 DDD:44052;15:20751226-21293606 esv3892595;15:20783000-20799000 gnomAD-SV_v2.1_DUP_15_39419;15:20846722-20867075 1000g;15:20846722-20867075 1000g;15:20846722-20867075 1000g;15:20846722-20867075 dgv431e214;15:21040437-21077011 nsv514765;15:21145102-21164300 TS40:ISCA-46688... 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... 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 -1844783 DEL Benign NA split q11.1-q11.2 HERC2P3 NR_036432 1 20613648 20711433 97785 0 0 NA 26 txStart-txEnd UTR 20613648 20711433 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;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;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 HGNC:4871 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 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;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;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 HGNC:37225 8 2.2875e-19 8.6864e-02 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 GOLGA8CP NR_027411 2 20767673 20781026 13353 0 0 NA 18 txStart-txEnd UTR 20767673 20781026 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;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;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 HGNC:32375 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 NBEAP1 NR_027992 1 20874796 20961480 86684 0 0 NA 3 txStart-txEnd UTR 20874796 20961480 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;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;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 606 HGNC:1007 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 MIR3118-2 NR_036062 2 21038123 21038198 75 0 0 NA 1 txStart-txEnd UTR 21038123 21038198 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;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;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 100422949 HGNC:38324 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 POTEB2 NM_001277303 1 21040700 21071643 30943 1635 100 no 11 txStart-txEnd 5'UTR-3'UTR 21040700 21071643 DDD:43986;DDD:43992;DDD:44001;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv91e55;dgv92e55;dgv93e55;esv3892595;nsv514765 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;15:21040437-21077011 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 92.58 2.22375841006203 2.58284576037233 100287399 HGNC:48327 8 4.2457e-02 5.7189e-01 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 MIR5701-1 NR_049886 1 21145580 21145662 82 0 0 NA 1 txStart-txEnd UTR 21145580 21145662 DDD:43986;DDD:43992;DDD:44001;DDD:44068;TS40:ISCA-46686;TS40:ISCA-46688;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;15:20203950-22588019;15:20388742-22207639;15:20751226-21293606;15:21069662-21311925;15:21145102-21164300 0.3900 DDD:43992;DDD:44001;DDD:44068;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20144627-21266621;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21069662-21311925 0.2710 100847060 HGNC:43522 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 LINC01193 NR_040094 1 21145766 21198633 52867 0 0 NA 5 txStart-txEnd UTR 21145766 21198633 DDD:43986;DDD:43992;DDD:44001;DDD:44068;TS40:ISCA-46686;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;15:20203950-22588019;15:20388742-22207639;15:20751226-21293606;15:21069662-21311925 0.3900 DDD:43992;DDD:44001;DDD:44068;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20144627-21266621;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21069662-21311925 0.2710 348120 HGNC:28003 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 FAM30C NR_145444 1 21208605 21255165 46560 0 0 NA 4 txStart-txEnd UTR 21208605 21255165 DDD:43992;DDD:44001;DDD:44068;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv92e55;dgv93e55;esv3892595 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 0.3900 DDD:43992;DDD:44001;DDD:44068;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20144627-21266621;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21069662-21311925 0.2710 654499 HGNC:31024 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 LOC646214 NR_027053 2 21932513 21940739 8226 0 0 NA 1 txStart-txEnd UTR 21932513 21940739 DDD:44001;DDD:44096;DDD:44097;DDD:44098;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:20388742-22207639;15:21399090-22661412;15:21904679-21949433;15:21906623-22142846 0.3900 DDD:44001;DDD:44096;DDD:44097;DDD:44098;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:21904679-21949433;15:21906623-22142846 0.1300 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 CXADRP2 NR_024387 1 22014402 22016878 2476 0 0 NA 1 txStart-txEnd UTR 22014402 22016878 DDD:44001;DDD:44096;DDD:44098;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:20388742-22207639;15:21399090-22661412;15:21906623-22142846 0.3900 DDD:44001;DDD:44096;DDD:44098;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:21906623-22142846 0.1300 646243 HGNC:33973 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 POTEB NM_001277304 2 22051852 22083259 31407 1635 100 no 11 txStart-txEnd 5'UTR-3'UTR 22051852 22083259 DDD:44001;DDD:44096;DDD:44098;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:20388742-22207639;15:21399090-22661412;15:21906623-22142846 0.3900 DDD:44001;DDD:44096;DDD:44098;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:21906623-22142846 0.1300 91.86 100996331 HGNC:33734 9 3.5277e-01 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 NF1P2 NR_028506 2 22133180 22145802 12622 0 0 NA 8 txStart-txEnd UTR 22133180 22145802 DDD:44001;DDD:44096;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:20388742-22207639;15:21399090-22661412 0.3900 DDD:44001;DDD:44096;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412 0.1300 440225 HGNC:38664 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 LINC02203 NR_152818 1 22195582 22199978 4396 0 0 NA 3 txStart-txEnd UTR 22195582 22199978 DDD:44001;DDD:44096;TS40:ISCA-46686;dgv2191n100;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:20388742-22207639;15:21399090-22661412 0.3900 DDD:44001;DDD:44096;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412 0.1300 727924 HGNC:53069 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 OR4M2-OT1 NR_110480 1 22278030 22383564 105534 0 0 NA 9 txStart-txEnd UTR 22278030 22383564 DDD:44001;DDD:44096;dgv2191n100;dgv3e224;dgv40e203;dgv92e55;dgv93e55 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:21399090-22661412;15:22267463-22591752 0.3900 DDD:44001;DDD:44096;dgv40e203;dgv94e55;dgv96e55 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412 0.1300 101927079 HGNC:56199 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 OR4M2 NM_001004719 2 22368477 22369561 1084 942 95 no 1 txStart-txEnd 5'UTR-3'UTR 22368477 22369561 1000g;DDD:44001;DDD:44096;DDD:44106;DDD:44113;DDD:44114;DDD:44119;dgv2191n100;dgv3e224;dgv40e203;dgv435e214;dgv92e55;dgv93e55;nsv514767 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:21399090-22661412;15:22267463-22591752;15:22278200-22574827;15:22304657-22588026;15:22307890-22657533;15:22308418-22455534;15:22343966-22372302;15:22343966-22372302;15:22343966-22372302;15:22343966-22372302;15:22343966-22372302;15:22343966-22372302;15:22360686-22387071 0.4271 DDD:44001;DDD:44096;DDD:44113;DDD:44114;DDD:44119;dbVar;dgv100e55;dgv2373n100;dgv40e203;dgv94e55;dgv96e55;nsv514767 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:22280466-22588019;15:22304657-22588026;15:22307890-22657533;15:22308418-22455534;15:22320058-22588019;chr15:22343965-22372302;15:22360686-22387071 0.1300 76.23 390538 HGNC:15373 9 3.9447e-08 full=1
15_20564609_22409391_DEL_1 15 20564609 22409391 -1844783 DEL Benign NA split q11.2 OR4N4 NM_001005241 4 22382472 22383813 1341 951 100 no 1 txStart-txEnd 5'UTR-3'UTR 22382472 22383813 DDD:44001;DDD:44096;DDD:44106;DDD:44113;DDD:44114;DDD:44119;dgv2191n100;dgv3e224;dgv40e203;dgv92e55;dgv93e55;nsv514767 15:20016329-23487546;15:20167087-22588036;15:20167087-22869764;15:20182203-22608281;15:20203950-22588019;15:21399090-22661412;15:22267463-22591752;15:22278200-22574827;15:22304657-22588026;15:22307890-22657533;15:22308418-22455534;15:22360686-22387071 0.4271 DDD:44001;DDD:44096;DDD:44113;DDD:44114;DDD:44119;dgv100e55;dgv2373n100;dgv40e203;dgv94e55;dgv96e55;nsv514767 15:20016329-23487546;15:20167087-23222284;15:20167090-22588036;15:20182203-22608281;15:21399090-22661412;15:22280466-22588019;15:22304657-22588026;15:22307890-22657533;15:22308418-22455534;15:22320058-22588019;15:22360686-22387071 0.1300 75.33 -0.271906921498889 -0.565772314050669 283694 HGNC:15375 9 5.1332e-05 1.8051e-02 full=1
15_34735950_34806953_DEL_1 15 34735950 34806953 -71004 DEL Benign NA full q14 MIR1233-1 GOLGA8B 0 ACTC1 (morbid/RE=ABC_enhancer);RYR3 (morbid/RE=ABC_enhancer);SLC12A6 (morbid/RE=ABC_enhancer+EA_enhancer) dbVar:nssv15172447;dbVar:nssv15125410;dbVar:nssv15172190;dbVar:nssv15149616;dbVar:nssv15147411;dbVar:nssv15150618;nssv15150717;dbVar:nssv15151655;dbVar:nssv15145681 15:20016812-102493540;15:20063341-102521392;15:20071674-102461162;15:20733396-102511616;15:22765629-38837526;15:22770423-102429112;15:31115048-102354857;15:32899500-35492630 0.09;0.09;0.09;0.09;0.44;0.09;0.10;2.74 dbVar:nssv15147319;dbVar:nssv16208403;dbVar:nssv15127755;dbVar:nssv15148236;dbVar:nssv15127602;dbVar:nssv16208407;dbVar:nssv15154730;dbVar:nssv15146365;dbVar:nssv15146268;dbVar:nssv17976656;dbVar:nssv16208948;dbVar:nssv18788041 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 0.45;0.50;0.09;0.58;0.10;1.77;2.93;1.00;0.93;1.14;1.59;12.66 1000g 15:34721237-34836826 0.0144 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 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 0.1680 15:34741740-34742019 1000g 15:34721237-34836826 1000g 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 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 0.340 0.660 15:34730084-34776964 15:34782963-34820866;15:34800001-34813836 -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 (0 gene, +0.00);5F (+0.00) 1
16_32471626_33487672_DEL_1 16 32471626 33487672 -1016047 DEL Benign NA full p11.2 LOC107987382;TP53TG3;SLC6A10P;TP53TG3C;LOC105369266;TP53TG3B;LOC107987386 LOC390705 ENPP7P13 7 dbVar:nssv15158812;dbVar:nssv15148703;dbVar:nssv15150639;nssv15151292;dbVar:nssv15158813;dbVar:nssv15158224;dbVar:nssv16216874;dbVar:nssv15126545;dbVar:nssv15133058;dbVar:nssv15126469 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 1.13;1.13;1.13;1.13;1.13;3.57;10.65;22.86;1.74 dbVar:nssv15141243 16:28826163-34375007 18.31 DDD:47058;DDD:47062;dgv50e203 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028 0.0700 DDD:47058;DDD:47062;dgv50e203 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028 0.0715 IMH 16:24121264-80276578;16:29238285-88227116;16:32354183-33512427;16:32354247-33512560 0.4996 16:32055083-33851279 DDD:47058;16:32129166-32904510 DDD:47063;16:32345385-33344188 IMH;16:32486529-32486871 DDD:47082;16:32511180-33912324 dgv821e212;16:32611030-32642738 1000g;16:32611030-32642738 dgv507e214;16:32740800-32750700 gnomAD-SV_v2.1_DUP_16_42037;16:32831660-32863935 1000g;16:32831660-32863935 dgv508e214;16:32903492-32927819 1000g;16:33204449-33378738 DDD:47113;16:33231300-33237300 gnomAD-SV_v2.1_DUP_16_42041;16:33286000-33293700 gnomAD-SV_v2.1_DUP_16_42046;16:33376004-33548487 DDD:47124;16:33446164-33480261 1000g;16:33446164-33480261 dgv510e214;16:33470756-33495606 1000g;16:33470756-33495606 dgv511e214;16:33484522-33543753 1000g... 16:31749454-34012168 dgv50e203;16:32123333-33664028 DDD:47062;16:32257510-32714406 esv2421440;16:32473116-32486576 DDD:47080;16:32489448-32622550 dgv4e224;16:32589803-32684945 DDD:47091;16:32611030-32642738 1000g;16:32684868-32688916 DDD:47098;16:32831660-32863935 1000g;16:32831660-32863935 1000g;16:32900256-32908555 nsv514802;16:32903492-32927819 dgv509e214;16:33230271-33739925 DDD:47114;16:33270420-33827235 DDD:47116;16:33302092-33630727 nsv514803;16:33406659-33406773 IMH;16:33446164-33480261 1000g;16:33464249-33499453 DDD:47125;16:33470756-33495606 1000g;16:33473790-33628580 DDD:47126... 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... 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... 0.255 0.275 16:32471562-32471589 AT_rich 16:32328196-32493021;16:32333061-32489849;16:32333061-32492391;16:32462184-32472474 16:33363548-33517471;16:33465320-33517471;16:33466597-33509202 94.39 -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 (7 genes, +0.00);5F (+0.00) 1
16_32471626_33487672_DEL_1 16 32471626 33487672 -1016047 DEL Benign NA split p11.2 LOC107987382 NR_171659 1 32611681 32626892 15211 0 0 NA 8 txStart-txEnd UTR 32611681 32626892 1000g;DDD:47058;DDD:47062;DDD:47063;DDD:47091;IMH;dgv507e214;dgv50e203;dgv821e212;esv2421440 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510;16:32257510-32714406;16:32345385-33344188;16:32511180-33912324;16:32589803-32684945;16:32611030-32642738;16:32611030-32642738;16:32611030-32642738 0.8086 DDD:47058;DDD:47062;DDD:47063;DDD:47074;DDD:47081;DDD:47087;DDD:47091;DDD:47092;dbVar;dgv50e203;dgv819e212;esv2421440 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 0.2300 IMH 16:24121264-80276578;16:29238285-88227116;16:32354183-33512427;16:32354247-33512560 0.4996 full=1
16_32471626_33487672_DEL_1 16 32471626 33487672 -1016047 DEL Benign NA split p11.2 TP53TG3 NM_016212 5 32684850 32687486 2636 375 100 no 2 txStart-txEnd 5'UTR-3'UTR 32684850 32687486 DDD:47058;DDD:47062;DDD:47063;IMH;dgv50e203;dgv821e212;esv2421440 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510;16:32257510-32714406;16:32345385-33344188;16:32511180-33912324 0.3314 DDD:47058;DDD:47062;DDD:47063;DDD:47074;HI40:ISCA-46492;dbVar;dgv50e203;dgv819e212;esv2421440 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 0.2300 IMH 16:24121264-80276578;16:29238285-88227116;16:32354183-33512427;16:32354247-33512560 0.4996 94.39 24150 HGNC:30759 full=1
16_32471626_33487672_DEL_1 16 32471626 33487672 -1016047 DEL Benign NA split p11.2 SLC6A10P NR_003083 3 32888793 32896463 7670 0 0 NA 9 txStart-txEnd UTR 32888793 32896463 DDD:47058;DDD:47062;DDD:47063;IMH;dgv50e203;dgv821e212 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510;16:32345385-33344188;16:32511180-33912324 0.3314 DDD:47058;DDD:47062;DDD:47063;dgv50e203 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32129166-32904510 0.1692 IMH 16:24121264-80276578;16:29238285-88227116;16:32354183-33512427;16:32354247-33512560 0.4996 386757 HGNC:11043 full=1
16_32471626_33487672_DEL_1 16 32471626 33487672 -1016047 DEL Benign NA split p11.2 TP53TG3C NM_001205259 3 33205546 33208179 2633 375 100 no 2 txStart-txEnd 5'UTR-3'UTR 33205546 33208179 DDD:47058;DDD:47062;DDD:47113;IMH;dgv50e203;dgv821e212 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32345385-33344188;16:32511180-33912324;16:33204449-33378738 0.3314 DDD:47058;DDD:47062;DDD:47113;dgv50e203 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:33204449-33378738 0.0715 IMH 16:24121264-80276578;16:29238285-88227116;16:32354183-33512427;16:32354247-33512560 0.4996 91.96 653550 HGNC:42962 full=1
16_32471626_33487672_DEL_1 16 32471626 33487672 -1016047 DEL Benign NA split p11.2 LOC105369266 NR_158162 1 33215160 33232409 17249 0 0 NA 6 txStart-txEnd UTR 33215160 33232409 DDD:47058;DDD:47062;DDD:47113;IMH;dgv50e203;dgv821e212 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32345385-33344188;16:32511180-33912324;16:33204449-33378738 0.3314 DDD:47058;DDD:47062;DDD:47113;dgv50e203 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:33204449-33378738 0.0715 IMH 16:24121264-80276578;16:29238285-88227116;16:32354183-33512427;16:32354247-33512560 0.4996 full=1
16_32471626_33487672_DEL_1 16 32471626 33487672 -1016047 DEL Benign NA split p11.2 TP53TG3B NM_001099687 4 33262081 33264719 2638 375 100 no 2 txStart-txEnd 5'UTR-3'UTR 33262081 33264719 DDD:47058;DDD:47062;DDD:47113;DDD:47114;IMH;dgv50e203;dgv821e212 16:31749454-34012168;16:32055083-33851279;16:32123333-33664028;16:32345385-33344188;16:32511180-33912324;16:33204449-33378738;16:33230271-33739925 0.3314 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 92.24 729355 HGNC:37202 full=1
16_32471626_33487672_DEL_1 16 32471626 33487672 -1016047 DEL Benign NA split p11.2 LOC107987386 NR_171660 1 33298270 33319296 21026 0 0 NA 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 209160 DUP Benign NA full p11.2-p11.1 LINC01566 LOC105371200 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;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;16:34457086-34712399;16:34457086-34712399;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 16:34202089-35147508 TS40:ISCA-37481;16:34410570-34796531 dgv117e55;16:34445084-34774280 dgv824e212;16:34457086-34712399 1000g;16:34465000-34757000 gnomAD-SV_v2.1_DUP_16_42078;16:34471852-34731191 nsv514804;16:34567146-34656231 DDD:47183; 16:34197352-35283226 dgv51e203;16:34259806-34805859 nsv516385;16:34441796-34784591 dgv2962n100;16:34456525-34736855 DDD:47173;16:34457086-34712399 esv3638500;16:34470705-34757071 esv2421698;16:34476781-34747070 DDD:47179;16:34572795-34661165 gnomAD-SV_v2.1_DUP_16_42081 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);4O (cf po_B_gain_AllG_source, B_gain_source, po_B_gain_SomeG_source, +0.00);5F (+0.00) 1
16_34493207_34702366_DUP_1 16 34493207 34702366 209160 DUP Benign NA split p11.2-p11.1 LINC01566 NR_027080 2 34597786 34626084 28298 0 0 NA 7 txStart-txEnd UTR 34597786 34626084 1000g;DDD:47173;DDD:47179;DDD:47183;TS40:ISCA-37481;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;16:34457086-34712399;16:34457086-34712399;16:34465000-34757000;16:34470705-34757071;16:34471852-34731191;16:34476781-34747070;16:34567146-34656231;16:34572795-34661165 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 HGNC:27555 full=1
17_34437476_34817481_DUP_1 17 34437476 34817481 380006 DUP Benign NA full q12 TBC1D3B;CCL3L3;CCL4L2;TBC1D3D;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 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;17:34436438-34780239 DDD:49240;17:34437483-34477480 dgv910e212;17:34502930-34524195 nsv514837;17:34517741-34540630 DDD:49256;17:34580927-34587273 DDD:49263;17:34625755-34641426 DDD:49271;17:34750173-34796456 DDD:49284; 17:34387632-34629696 esv2762388;17:34416538-34629684 dgv3144n100;17:34425364-34477387 dgv121e55;17:34431132-34484342 DDD:49235;17:34435513-34629696 esv2760467;17:34436100-34482872 1000g;17:34436100-34482872 dgv572e214;17:34437129-34485091 esv2421587;17:34443777-34537005 DDD:49243;17:34502941-34524192 TS40:ISCA-46706;17:34538648-34540293 nsv514838;17:34610042-34641487 nsv514839;17:34746065-34746521 DDD:49283;17:34800000-34914000 gnomAD-SV_v2.1_DUP_17_43954 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 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);4O (cf po_B_gain_AllG_source, B_gain_source, po_B_gain_SomeG_source, +0.00);5F (+0.00) 1
17_34437476_34817481_DUP_1 17 34437476 34817481 380006 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;dgv122e55;dgv3144n100;esv2760467;esv2762388 17:34387632-34629696;17:34416538-34629684;17:34426246-34870708;17:34435513-34629696;17:34435674-34621060;17:34436438-34780239;17:34443777-34537005 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 HGNC:27011 7 2.1949e-01 6.3692e-01 full=1
17_34437476_34817481_DUP_1 17 34437476 34817481 380006 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;dgv122e55;dgv3144n100;esv2760467;esv2762388;nsv514837 17:34387632-34629696;17:34416538-34629684;17:34426246-34870708;17:34435513-34629696;17:34435674-34621060;17:34436438-34780239;17:34443777-34537005;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 HGNC:30554 9 3.1517e-01 full=1
17_34437476_34817481_DUP_1 17 34437476 34817481 380006 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;dgv122e55;dgv3144n100;esv2760467;esv2762388 17:34387632-34629696;17:34416538-34629684;17:34426246-34870708;17:34435513-34629696;17:34435674-34621060;17:34436438-34780239;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 HGNC:24066 9 8.8586e-02 4.8994e-01 full=1
17_34437476_34817481_DUP_1 17 34437476 34817481 380006 DUP Benign NA split q12 TBC1D3D NM_001291465 2 34581084 34592039 10955 1650 100 no 14 txStart-txEnd 5'UTR-3'UTR 34581084 34592039 DDD:49237;DDD:49240;dgv122e55;dgv3144n100;esv2760467;esv2762388 17:34387632-34629696;17:34416538-34629684;17:34426246-34870708;17:34435513-34629696;17:34435674-34621060;17:34436438-34780239 0.0994 DDD:49240 17:34436438-34780239 0.0982 IMH 17:30436599-65922464;17:32367054-60556542;17:32367223-60556516;17:32367435-60556508 0.2252 101060389 HGNC:28944 full=1
17_34437476_34817481_DUP_1 17 34437476 34817481 380006 DUP Benign NA split q12 CCL3L1 NM_021006 6 34623841 34625731 1890 282 100 no 3 txStart-txEnd 5'UTR-3'UTR 34623841 34625731 DDD:49240;dgv122e55;dgv3144n100;esv2760467;esv2762388;nsv514839 17:34387632-34629696;17:34416538-34629684;17:34426246-34870708;17:34435513-34629696;17:34436438-34780239;17:34610042-34641487 0.0994 DDD:49240;dgv546e199 17:34436438-34780239;17:34591446-34670592 0.1000 IMH 17:30436599-65922464;17:32367054-60556542;17:32367223-60556516;17:32367435-60556508 0.2252 88.49 6349 HGNC:10628 yes 9 1.2057e-01 full=1
17_34437476_34817481_DUP_1 17 34437476 34817481 380006 DUP Benign NA split q12 TBC1D3H NM_001123392 4 34746118 34757005 10887 1650 100 no 14 txStart-txEnd 5'UTR-3'UTR 34746118 34757005 DDD:49240;dgv122e55 17:34426246-34870708;17:34436438-34780239 0.0994 DDD:49240 17:34436438-34780239 0.0982 IMH 17:30436599-65922464;17:32367054-60556542;17:32367223-60556516;17:32367435-60556508 0.2252 93.12 729877 HGNC:30708 full=1
17_34437476_34817481_DUP_1 17 34437476 34817481 380006 DUP Benign NA split q12 TBC1D3F NM_032258 5 34797171 34808058 10887 1650 100 no 14 txStart-txEnd 5'UTR-3'UTR 34797171 34808058 dgv122e55 17:34426246-34870708 0.0300 IMH 17:30436599-65922464;17:32367054-60556542;17:32367223-60556516;17:32367435-60556508 0.2252 93.73 1.8673923772413 2.14567117504116 84218 HGNC:18257 9 1.3666e-05 6.2038e-01 full=1
17_44171889_44297143_DUP_1 17 44171889 44297143 125255 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;17:44107283-44302733;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;64.09;40.03 26 Inborn_genetic_diseases;Intellectual_disability;Koolen-de_Vries_syndrome;Neurodevelopmental_delay;not_specified DDD:49604;IMH;dgv127e55;dgv128e55;dgv3181n100;esv2422002;esv2762433;nsv516807 17:43574135-44788194;17:43655786-44366714;17:44004973-44811116;17:44094472-44364056;17:44109475-44793283;17:44145590-44364158;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;17:44145590-44364158 dgv3181n100;17:44163926-44293020 dgv367n27;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;17:44209763-44267388 DDD:49612;17:44212745-44369562 gnomAD-SV_v2.1_DUP_17_44188;17:44223908-44224221 1000g;17:44230894-44262697 1000g;17:44249111-44320939 DDD:49618;17:44282756-44286423 IMH; 17:43574135-44788194 esv2762433;17:44004973-44811116 dgv127e55;17:44109475-44793283 nsv516807;17:44149791-44248860 DDD:49602;17:44165000-44217000 gnomAD-SV_v2.1_DUP_17_44187;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;17:44212647-44369642 IMH;17:44212825-44276618 dgv943e212;17:44230894-44262697 1000g;17:44230894-44262697 dgv576e214;17:44280980-44369559 DDD:49623;17:44283572-44782177 esv3893020 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 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);4O (cf po_B_gain_AllG_source, B_gain_source, po_B_gain_SomeG_source, +0.00);5F (+0.00) 1
17_44171889_44297143_DUP_1 17 44171889 44297143 125255 DUP Benign NA split q21.31 KANSL1 NM_001405854 1 44107281 44302125 125255 1431 43 no 16 intron2-intron4 5'UTR-CDS 37 5' 44171888 44297143 26 Inborn_genetic_diseases;Intellectual_disability;Koolen-de_Vries_syndrome;Neurodevelopmental_delay;not_specified DDD:49604;IMH;dgv127e55;dgv128e55;dgv3181n100;esv2422002;esv2762433;nsv516807 17:43574135-44788194;17:43655786-44366714;17:44004973-44811116;17:44094472-44364056;17:44109475-44793283;17:44145590-44364158;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 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 HGNC:24565 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 125255 DUP Benign NA split q21.31 KANSL1-AS1 NR_034172 1 44270938 44274089 3151 0 0 NA 2 txStart-txEnd UTR 44270938 44274089 DDD:49604;DDD:49608;DDD:49609;DDD:49611;DDD:49618;IMH;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;17:44145590-44364158;17:44163926-44293020;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;17:44212647-44369642;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 HGNC:43740 full=1
2_242865921_243028452_DEL_1 2 242865921 243028452 -162532 DEL Benign NA full q37.3 LINC01237;LINC01238;LOC285097;LINC01880 FAM240C LINC03100 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 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 2:242930601-243102476 TS40:ISCA-37470;2:242988770-243037176 dgv768e214;2:243027554-243069648 dgv769e214; 2:242869276-242871593 IMH;2:242988770-243037176 1000g;2:243027554-243069648 1000g;2:243028400-243028975 nsv514985 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 -162532 DEL Benign NA split q37.3 LINC01237 NR_110220 1 242823513 243020873 154953 0 0 NA 4 intron2-txEnd UTR 41134 5' 242865920 243020873 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 HGNC:49793 full=1
2_242865921_243028452_DEL_1 2 242865921 243028452 -162532 DEL Benign NA split q37.3 LINC01238 NR_110592 1 242912833 242919427 6594 0 0 NA 6 txStart-txEnd UTR 242912833 242919427 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 101927289 HGNC:49793 full=1
2_242865921_243028452_DEL_1 2 242865921 243028452 -162532 DEL Benign NA split q37.3 LOC285097 NR_149023 1 242943359 242948164 4805 0 0 NA 1 txStart-txEnd UTR 242943359 242948164 TS40:ISCA-37470 2:242930601-243102476 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 -162532 DEL Benign NA split q37.3 LINC01880 NR_146651 1 242989834 243026289 36455 0 0 NA 4 txStart-txEnd UTR 242989834 243026289 1000g;TS40:ISCA-37470;dgv768e214 2:242930601-243102476;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 HGNC:52699 full=1
3_195419169_195472855_DEL_1 3 195419169 195472855 -53687 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);ARL6IP1 (morbid/RE=mTL_miRNA);ATP6V1B2 (morbid/RE=mTL_miRNA);BICD2 (morbid/RE=mTL_miRNA);BLOC1S6 (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);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);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_promoter_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+GH_promoter_enhancer);SAMD12 (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;esv2760775;esv2763776 3:195240825-195502119;3:195376589-195493533;3:195383143-195502119;3:195385823-195474165 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 3:195320057-195470538 DDD:12519;3:195383143-195502119 esv2760775;3:195417631-195471708 DDD:12530;3:195417836-195445776 1000g;3:195417836-195445776 1000g;3:195428197-195442889 nsv515001;3:195452013-195457240 1000g;3:195454692-195475463 DDD:12537;3:195457142-195468593 1000g;3:195457142-195468593 dgv969e214 3:195240825-195502119 esv2763776;3:195376589-195493533 TS40:ISCA-46592;3:195385823-195474165 DDD:12528;3:195417836-195445776 1000g;3:195417836-195445776 1000g;3:195417836-195445776 dgv967e214;3:195452013-195457240 1000g;3:195452013-195457240 dgv968e214;3:195457000-195471300 gnomAD-SV_v2.1_DUP_3_10621;3:195457142-195468593 1000g 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 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 -53687 DEL Benign NA split q29 MIR570HG NR_122105 1 195415368 195438746 19578 0 0 NA 5 intron2-txEnd UTR 2859 5' 195419168 195438746 1000g;DDD:12519;DDD:12528;DDD:12530;TS40:ISCA-46592;dgv967e214;esv2760775;esv2763776 3:195240825-195502119;3:195320057-195470538;3:195376589-195493533;3:195383143-195502119;3:195385823-195474165;3:195417631-195471708;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 HGNC:53743 full=1
3_195419169_195472855_DEL_1 3 195419169 195472855 -53687 DEL Benign NA split q29 MIR570 NR_030296 1 195426271 195426368 97 0 0 NA 1 txStart-txEnd UTR 195426271 195426368 1000g;DDD:12519;DDD:12528;DDD:12530;TS40:ISCA-46592;dgv967e214;esv2760775;esv2763776 3:195240825-195502119;3:195320057-195470538;3:195376589-195493533;3:195383143-195502119;3:195385823-195474165;3:195417631-195471708;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 HGNC:32826 full=1
3_195419169_195472855_DEL_1 3 195419169 195472855 -53687 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;esv2760775;esv2763776 3:195240825-195502119;3:195320057-195470538;3:195376589-195493533;3:195383143-195502119;3:195385823-195474165;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 HGNC:23282 6 4.7211e-03 full=1
4_69392546_69462438_DEL_1 4 69392546 69462438 -69893 DEL Benign NA full q13.2 UGT2B17 TMPRSS11E UGT2B15 1 dbVar:nssv15165478;dbVar:nssv15148693;dbVar:nssv15165480;dbVar:nssv15164282;dbVar:nssv15149870;nssv15151360;dbVar:nssv15145710;dbVar:nssv17956560;dbVar:nssv15153593;dbVar:nssv15774461 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 0.04;0.04;0.04;0.04;0.04;0.15;0.08;0.80;0.47 dbVar:nssv17173265;dbVar:nssv15165214;dbVar:nssv15125766;dbVar:nssv17969950;dbVar:nssv15141158;dbVar:nssv15132956;dbVar:nssv15132546;dbVar:nssv15137205;dbVar:nssv18830797;dbVar:nssv16207960 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 0.29;0.53;0.16;0.54;0.65;1.02;1.75;1.09;0.47;0.65 DDD:13999;dgv1490e212;dgv5262n100;dgv5264n100 4:69360477-69485827;4:69364694-69524016;4:69371992-69489323;4:69371992-69540013 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 4:69364694-69524016 DDD:13999;4:69371992-69489323 dgv5262n100;4:69435890-69485966 dgv1493e212; 4:69360477-69485827 dgv1490e212;4:69366026-69430178 DDD:14000;4:69371992-69540013 dgv5264n100;4:69435890-69551731 dgv1495e212 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; 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 0.400 0.365 4:69392108-69392544 Tigger2a 4:69462528-69462751 THE1B 4:69370649-69435791 87.45 0.741987855668132 1.6951286981971 601903 yes 5 9.6905e-08 1.0256e-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 (1 gene, +0.00);5F (+0.00) 1
4_69392546_69462438_DEL_1 4 69392546 69462438 -69893 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;dgv1490e212;dgv5262n100;dgv5264n100 4:69360477-69485827;4:69364694-69524016;4:69371992-69489323;4:69371992-69540013 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 87.45 0.741987855668132 1.6951286981971 7367 HGNC:12547 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 -96211 DEL Benign NA full p25.3 DUSP22 LINC03066 IRF4 1 EXOC2 (morbid/RE=ABC_enhancer+EA_enhancer+GH_promoter_enhancer);FOXC1 (HI=3/morbid/RE=ABC_enhancer);IRF4 (morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer+GH_promoter_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;dgv140e203;nsv514340 6:230528-373346;6:236002-373603;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;6:256503-293373 dgv1157e214;6:257354-293393 DDD:19561;6:257354-382897 dgv140e203;6:294125-385771 dgv1705e212;6:305182-340601 1000g;6:305182-340601 dgv1158e214;6:327587-368712 1000g;6:344136-379149 DDD:19570 6:230528-373346 DDD:19553;6:253364-294911 dgv1694e212;6:256503-293373 1000g;6:257333-380527 nsv514340;6:257354-294837 esv2421434;6:259529-339802 TS40:ISCA-37471;6:298701-379015 esv2421645;6:305182-340601 1000g;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 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 -96211 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;dgv140e203;nsv514340 6:230528-373346;6:236002-373603;6:257333-380527;6:257354-382897 0.6839 DDD:19555;dbVar;dgv1701e212 chr6:180946-734275;6:236002-373603;6:254255-385771 0.1870 38.68 -1.35330421932959 -0.982727799381157 56940 HGNC:16077 5 9.3421e-03 4.3071e-03 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 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 FAM90A20 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 8:6959834-8600711 esv2764098;8:7024892-8031414 DDD:26674;8:7053187-8130689 TS40:ISCA-37472;8:7170611-7177489 nsv515099;8:7201176-7392220 DDD:26689;8:7212583-7227421 1000g;8:7212583-7227421 TS40:ISCA-46631;8:7241528-7403182 nsv515100;8:7308244-7308706 DDD:26704;8:7632945-7856630 DDD:26727;8:7717878-7717938 DDD:26737;8:7734213-7856702 DDD:26743;8:7737000-7743100 gnomAD-SV_v2.1_DUP_8_23708;8:6959834-8600711 esv2764098;8:7024892-8031414 DDD:26674;8:7053187-8130689 TS40:ISCA-37472;8:7170611-7177489 nsv515099;8:7201176-7392220 DDD:26689;8:7212583-7227421 1000g;8:7212583-7227421 TS40:ISCA-46631... 8:6858816-8072303 esv2761169;8:6985776-7230992 DDD:26670;8:7035907-7428513 DDD:26675;8:7154889-7213289 DDD:26682;8:7190891-7190961 DDD:26685;8:7212583-7227421 1000g;8:7212583-7227421 1000g;8:7212583-7227421 dgv1365e214;8:7250369-7832042 dgv6936n100;8:7401394-7472190 DDD:26720;8:7634705-7829839 DDD:26729;8:7718891-7784263 DDD:26742;8:7737000-7743100 TS40:ISCA-46381;8:6858816-8072303 esv2761169;8:6985776-7230992 DDD:26670;8:7035907-7428513 DDD:26675;8:7154889-7213289 DDD:26682;8:7190891-7190961 DDD:26685;8:7212583-7227421 1000g;8:7212583-7227421 1000g... 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... 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);4O (cf po_B_gain_AllG_source, B_gain_source, po_B_gain_SomeG_source, +0.00);5F (+0.00) 1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP Benign NA split p23.1 FAM66B NR_027423 2 7156265 7212885 43395 0 0 NA 7 txStart-intron6 UTR 9797 3' 7169490 7212885 DDD:26670;DDD:26674;DDD:26675;DDD:26682;TS40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289 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 HGNC:28890 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 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;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289 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 HGNC:33469 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 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;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289 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 HGNC:37182 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:6985776-7230992;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7154889-7213289 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 HGNC:37176 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7201176-7392220 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 91.1 -1.59751875296103 -3.97736276921453 100131980 HGNC:37134 9 1.6471e-08 4.2486e-09 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 99.72 100289462 HGNC:30193 9 6.7977e-02 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 85.97 55894 HGNC:31702 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 89.4 2.14121257165536 1.8677219993927 10407 HGNC:14534 9 2.7751e-02 4.7238e-02 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 95.66 503618 HGNC:26165 9 3.3176e-01 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 93.29 503841 HGNC:28879 9 8.1151e-02 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 90.95 504180 HGNC:29930 9 2.9184e-01 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 91.71 503614 HGNC:31918 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098;nsv515100 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;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 100131608 HGNC:49420 8 4.2180e-01 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7035907-7428513;8:7053187-8130689;8:7250369-7832042;8:7401394-7472190 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 HGNC:32255 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7401394-7472190 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 HGNC:32270 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7401394-7472190 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 HGNC:32271 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 645651 HGNC:32262 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441326 HGNC:32266 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441323 HGNC:32264 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441324 HGNC:32256 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 728746 HGNC:32265 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 728753 HGNC:32267 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441327 HGNC:32257 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042 0.2355 DDD:26674;HI40:ISCA-37472;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689 0.2237 441328 HGNC:32258 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 HGNC:49396 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 92.48 245910 HGNC:18086 9 3.2633e-01 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 HGNC:18087 8 3.7719e-01 4.3625e-01 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 DUP 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 HGNC:18088 9 8.5821e-03 4.0931e-01 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 HGNC:18115 9 9.3748e-02 5.1947e-01 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 HGNC:33342 9 6.9645e-05 3.9012e-02 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 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;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;8:7632945-7856630;8:7634705-7829839;8:7718891-7784263;8:7734213-7856702;8:7737000-7743100;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 HGNC:15967 full=1
8_7169491_7753583_DUP_1 8 7169491 7753583 584093 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;dgv6936n100;esv2761169;esv2764098 8:6858816-8072303;8:6959834-8600711;8:7024892-8031414;8:7053187-8130689;8:7250369-7832042;8:7632945-7856630;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 HGNC:2767 9 1.1637e-03 3.9981e-01 full=1
8_141035364_141061798_DEL_1 8 141035364 141061798 -26435 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 -26435 DEL DI AR Pathogenic NA split q24.3 TRAPPC9 NM_001160372 4 140739967 141467843 26435 0 0 NA 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 2000476;20004763;20004764;20004765;20004765[PMID]_20004763[PMID]_20004765[PMID];22549410;22549410[PMID] 83696 HGNC:30832 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 -28003 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;esv2760346 14:106050001-107289540;14:106437088-107285437;14:107136632-107191499 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;14:107147167-107164532 TS40:ISCA-46684; 14:106050001-107289540 TS40:ISCA-37477;14:106874357-107164992 IMH;14:107145552-107179808 dgv699e212;14:107147167-107164532 dgv428e214 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
6_78979173_79023328_DEL_1 6 78979173 79023328 -44156 DEL Benign NA full q14.1 MEI4 MIR10524 0 dbVar:nssv15166690;dbVar:nssv15166692;dbVar:nssv15161859;nssv15161868;dbVar:nssv15168255;dbVar:nssv15606075;dbVar:nssv17970109;dbVar:nssv15148895 6:60108-171054786;6:108667-170980171;6:156976-170919482;6:165633-170919470;6:29455466-81447367;6:69938253-94379210;6:75092524-142361637 0.03;0.03;0.03;0.03;0.08;0.18;0.07 dbVar:nssv17976865;dbVar:nssv15138420;dbVar:nssv17957115;dbVar:nssv17956905;dbVar:nssv15154430;dbVar:nssv16255333;dbVar:nssv15139907;dbVar:nssv16215036 6:64954688-79581678;6:65259549-84136510;6:70165297-79920769;6:72799055-83275894;6:73674613-84829774;6:74226560-80208037;6:76635917-93420511;6:78562076-79746800 0.30;0.23;0.45;0.42;0.40;0.74;0.26;3.73 DDD:21366;dgv768n27;nsv516597 6:78848098-79052702;6:78950789-79066065;6:78973202-79031742 0.3704 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 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 0.4631 IMH 6:49889718-107723757 0.1414 6:78950789-79066065 DDD:21366;6:78973202-79031742 dgv768n27; 6:78848098-79052702 nsv516597;6:78963972-78992918 DDD:21367;6:78999918-79033124 DDD:21375 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 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 0.325 0.270 -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
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FILE: share/doc/AnnotSV/Example/test1.annotated.variantconvert.log
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python3 /PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert//src/variantconvert convert -i /PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/doc/AnnotSV/Example/test1.annotated.tsv -o /PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/doc/AnnotSV/Example/test1.annotated.vcf -c /PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert//src/variantconvert/configs/GRCh37/annotsv3_from_bed.combined.local.json
2026-04-14 12:03:34 [INFO] running variantconvert 2.0.1
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '[1.0 '.' 2.0 '.' '.' 1.0 '.' 9.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' 2.0
'.' '.' 1.0 '.' 1.0 '.' 1.0 '.' 2.0 '.' '.' 0.0 26.0 '.' '.' '.' '.' '.'
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'.' '.' '.' 0.0 1.0 '.' 18.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' 7.0 '.' '.' '.' '.' '.' '.' '.' 3.0 '.' '.'
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7.0 '.' '.' '.' '.' '.' '.' '.' 2.0 '.' '.' 4.0 '.' '.' '.' '.' 78.0 '.'
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9.0 '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' 1.0 '.' 6.0 3.0 '.' 2.0 '.' 1.0 2.0 2.0 2.0 3.0 1.0 1.0 1.0 1.0 '.'
5.0 2.0 '.' 5.0 '.' 5.0 '.' 1.0 '.' 1.0 2.0 '.' '.' 1.0 1.0 2.0 2.0 1.0
2.0 1.0 1.0 1.0 1.0 2.0 1.0 2.0 2.0 1.0 1.0 2.0 4.0 1.0 1.0 1.0 1.0 1.0
1.0 1.0 3.0 '.' 1.0 2.0 2.0 1.0 2.0 1.0 1.0 1.0 1.0 2.0 1.0 2.0 2.0 1.0
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1.0 2.0 1.0 2.0 2.0 2.0 1.0 6.0 1.0 4.0 1.0 1.0 1.0 1.0 1.0 2.0 1.0 2.0
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2.0 6.0 1.0 3.0 4.0 1.0 2.0 4.0 3.0 2.0 1.0 4.0 1.0 4.0 1.0 2.0 3.0 1.0
4.0 4.0 4.0 4.0 4.0 5.0 3.0 4.0 1.0 1.0 2.0 1.0 1.0 1.0 1.0 3.0 2.0 1.0
3.0 4.0 2.0 3.0 2.0 3.0 3.0 1.0 5.0 1.0 3.0 4.0 4.0 2.0 3.0 1.0 3.0 4.0
5.0 2.0 4.0 2.0 2.0 1.0 2.0 2.0 3.0 2.0 8.0 2.0 1.0 2.0 2.0 4.0 1.0 1.0
4.0 1.0 3.0 2.0 3.0 2.0 1.0 4.0 1.0 1.0 1.0 1.0 1.0 3.0 1.0 3.0 3.0 1.0
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2.0 2.0 1.0 3.0 3.0 4.0 1.0 3.0 1.0 2.0 1.0 1.0 2.0 1.0 2.0 1.0 5.0 5.0
1.0 3.0 3.0 5.0 3.0 1.0 3.0 3.0 1.0 1.0 1.0 1.0 2.0 1.0 1.0 1.0 1.0 1.0
1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 '.' 4.0 '.' 2.0 '.' 1.0 1.0
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1.0 1.0 3.0 2.0 4.0 4.0 1.0 2.0 3.0 2.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0
1.0 1.0 1.0 1.0 1.0 1.0 3.0 4.0 3.0 1.0 4.0 4.0 '.' 2.0 2.0 1.0 1.0 3.0
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1.0 1.0 1.0 3.0 4.0 3.0 1.0 4.0 4.0 '.' 3.0 1.0 1.0 1.0 2.0 3.0 '.' 4.0
'.' 2.0 3.0 4.0 1.0 5.0 3.0 7.0 1.0 1.0]' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' 149194105.0 '.' 196743969.0 196788860.0 '.' 248753787.0 '.'
46992020.0 47083456.0 47096453.0 47133334.0 47157988.0 47177206.0
47192907.0 47379719.0 47590260.0 '.' 66278105.0 66288095.0 '.' 63952692.0
'.' 63952692.0 '.' 22847807.0 '.' 73945188.0 74003846.0 '.' '.'
20487996.0 20613648.0 20737093.0 20767673.0 20874796.0 21038123.0
21040700.0 21145580.0 21145766.0 21208605.0 21932513.0 22014402.0
22051852.0 22133180.0 22195582.0 22278030.0 22368477.0 22382472.0
22413461.0 22448239.0 22465805.0 22513228.0 22546564.0 22675147.0
22702284.0 22736245.0 '.' 20613648.0 20737093.0 20767673.0 20874796.0
21038123.0 21040700.0 21145580.0 21145766.0 21208605.0 21932513.0
22014402.0 22051852.0 22133180.0 22195582.0 22278030.0 22368477.0
22382472.0 '.' '.' 1560427.0 '.' 32163432.0 32181363.0 32264606.0
32300867.0 32611681.0 32684850.0 32888793.0 33205546.0 33215160.0
33262081.0 33298270.0 33571843.0 33966044.0 34264719.0 34403801.0
34430129.0 34442319.0 34597786.0 '.' 32611681.0 32684850.0 32888793.0
33205546.0 33215160.0 33262081.0 33298270.0 '.' 33571843.0 33966044.0
34264719.0 '.' 34597786.0 '.' 13972820.0 14138989.0 14204397.0 14207056.0
14934291.0 14954671.0 15008301.0 15133095.0 15154943.0 15207128.0
15339331.0 15339331.0 15373624.0 15405577.0 '.' 34493062.0 34522267.0
34538464.0 34581084.0 34623841.0 34746118.0 34797171.0 '.' 44107281.0
44270938.0 '.' 242823513.0 242912833.0 242943359.0 242989834.0 '.'
18893832.0 18900293.0 18926981.0 18957980.0 19017036.0 19023798.0
19033674.0 19117791.0 19118820.0 19134505.0 19159218.0 19163093.0
19166985.0 19318220.0 19420067.0 19428408.0 19434956.0 19437433.0
19467348.0 19510546.0 19553652.0 19702025.0 19704742.0 19711061.0
19748300.0 19770745.0 19833668.0 19863044.0 19929294.0 19951275.0
19957418.0 20008632.0 20020661.0 20067763.0 20073268.0 20073580.0
20099397.0 20102208.0 20103626.0 20113924.0 20119326.0 20135938.0
20186251.0 20193854.0 20228937.0 20236656.0 20301760.0 20326419.0
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21369453.0 21383006.0 21388464.0 21396680.0 21400234.0 21457304.0 '.'
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7353432.0 7397148.0 7414221.0 7429516.0 7437165.0 7572964.0 7580612.0
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7669241.0 7678525.0 7682660.0 7693957.0 7705529.0 7738913.0 7752198.0 '.'
56979812.0 56986397.0 56987150.0 57025500.0 57073467.0 57124347.0 '.'
140739967.0 '.' 53205458.0 53262057.0 53401069.0 53432604.0 53449821.0
53458208.0 53559056.0 53583183.0 53584152.0]' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' 149194269.0 '.' 196764537.0 196801319.0 '.' 248761001.0 '.'
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'.' 64062273.0 '.' 22951948.0 '.' 74025651.0 74010500.0 '.' '.'
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34431919.0 34479081.0 34626084.0 '.' 32626892.0 32687486.0 32896463.0
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21382297.0 21386850.0 21388561.0 21398538.0 21418457.0 21476575.0 '.'
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64441746.0 64673676.0 64575760.0 64997143.0 65179178.0 '.' 97520086.0 '.'
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8749448.0 8873565.0 9178456.0 9213975.0 9218723.0 9223470.0 9228214.0
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89825401.0 90460254.0 90610219.0 90679134.0 90716532.0 '.' 351355.0 '.'
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73153132.0 73184600.0 73247020.0 73256846.0 73280220.0 73484237.0
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73820265.0 74016931.0 74010353.0 74175022.0 74143256.0 '.' 7212885.0
7177618.0 7191501.0 7196229.0 7243080.0 7274385.0 7287870.0 7321064.0
7332604.0 7343922.0 7347115.0 7366833.0 7399972.0 7417234.0 7432528.0
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7718465.0 7740185.0 7754238.0 '.' 7212885.0 7177618.0 7191501.0 7196229.0
7243080.0 7274385.0 7287870.0 7321064.0 7332604.0 7343922.0 7347115.0
7366833.0 7399972.0 7417234.0 7432528.0 7440175.0 7575975.0 7583623.0
7591271.0 7598918.0 7606566.0 7614214.0 7621862.0 7629510.0 7638935.0
7673238.0 7681402.0 7686575.0 7698764.0 7718465.0 7740185.0 7754238.0 '.'
56987065.0 56986460.0 56987833.0 57026541.0 57123832.0 57131368.0 '.'
141467843.0 '.' 53254389.0 53350548.0 53449603.0 53432697.0 53458063.0
53461317.0 53713664.0 53583302.0 53584235.0]' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' 164.0 '.' 8306.0 10442.0 '.' 7214.0 '.' 15861.0 4864.0 54947.0 564.0
16006.0 4482.0 20570.0 41519.0 735.0 '.' 1759.0 752.0 '.' 109581.0 '.'
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12682.0 22454.0 31533.0 31957.0 123081.0 5580.0 168808.0 98.0 25615.0
6391.0 4272.0 67864.0 4873.0 449510.0 3233.0 146121.0 103105.0 72323.0
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1593.0 1593.0 1593.0 1593.0 1197.0 '.' 39150.0 '.' 53806.0 '.' 71709.0
100.0 131733.0 17500.0 670.0 16563.0 40629.0 13959.0 605641.0 11417.0
14687.0 40369.0 '.' 58869.0 '.' 3507.0 2624.0 '.' '.' 140.0 '.' 13994.0
'.' 15507.0 30471.0 2343.0 81888.0 21335.0 11043.0 31321.0 4280.0 2536.0
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3376.0 38722.0 22741.0 97.0 19829.0 22898.0 116529.0 148696.0 59.0
67347.0 36120.0 '.' 43395.0 7375.0 1593.0 1593.0 30042.0 2009.0 1461.0
12940.0 4775.0 3897.0 1915.0 13401.0 2824.0 3013.0 3012.0 3010.0 3011.0
3011.0 3011.0 3010.0 3011.0 3011.0 3011.0 3012.0 2823.0 3997.0 2877.0
3915.0 4807.0 12936.0 1272.0 1385.0 '.' 43395.0 7375.0 1593.0 1593.0
30042.0 2009.0 1461.0 12940.0 4775.0 3897.0 1915.0 13401.0 2824.0 3013.0
3012.0 3010.0 3011.0 3011.0 3011.0 3010.0 3011.0 3011.0 3011.0 3012.0
2823.0 3997.0 2877.0 3915.0 4807.0 12936.0 1272.0 1385.0 '.' 936.0 63.0
683.0 1041.0 50365.0 7021.0 '.' 26435.0 '.' 3736.0 88491.0 48534.0 93.0
8242.0 3109.0 154608.0 119.0 83.0]' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' 0.0 '.' 563.0 607.0 '.' 939.0 '.' 1449.0 1128.0 0.0 0.0 984.0 0.0 0.0
0.0 0.0 '.' 238.0 0.0 '.' 2277.0 '.' 2277.0 '.' 0.0 '.' 0.0 1266.0 '.'
'.' 0.0 0.0 2175.0 0.0 0.0 0.0 1635.0 0.0 0.0 0.0 0.0 0.0 1635.0 0.0 0.0
0.0 942.0 951.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 2007.0 '.' 0.0 2175.0 0.0 0.0
0.0 1635.0 0.0 0.0 0.0 0.0 0.0 1635.0 0.0 0.0 0.0 942.0 951.0 '.' '.'
729.0 '.' 0.0 0.0 375.0 0.0 0.0 375.0 0.0 375.0 0.0 375.0 0.0 0.0 0.0 0.0
0.0 0.0 0.0 0.0 '.' 0.0 375.0 0.0 375.0 0.0 375.0 0.0 '.' 0.0 0.0 0.0 '.'
0.0 '.' 404.0 567.0 1173.0 0.0 0.0 0.0 0.0 483.0 0.0 1473.0 459.0 33.0
0.0 369.0 '.' 1650.0 282.0 312.0 1650.0 282.0 1650.0 1650.0 '.' 1431.0
0.0 '.' 0.0 0.0 0.0 0.0 '.' 392.0 1803.0 0.0 0.0 696.0 1653.0 0.0 1431.0
1077.0 618.0 0.0 957.0 4923.0 3054.0 621.0 318.0 0.0 924.0 1797.0 912.0
0.0 1110.0 0.0 621.0 1515.0 984.0 1095.0 1575.0 816.0 0.0 2889.0 1110.0
0.0 2322.0 0.0 0.0 1932.0 0.0 837.0 0.0 2337.0 1209.0 0.0 0.0 1422.0 0.0
663.0 0.0 0.0 678.0 1041.0 0.0 4920.0 699.0 0.0 0.0 1935.0 2607.0 1905.0
2367.0 0.0 0.0 6309.0 1500.0 777.0 912.0 0.0 1818.0 2523.0 930.0 0.0 0.0
1422.0 1908.0 0.0 0.0 1179.0 0.0 '.' 0.0 858.0 0.0 534.0 0.0 879.0 615.0
0.0 2838.0 0.0 0.0 1329.0 0.0 0.0 0.0 2535.0 0.0 0.0 0.0 5808.0 0.0 0.0
0.0 '.' 123.0 '.' 0.0 0.0 2130.0 '.' 1709.0 1239.0 0.0 1758.0 1425.0 0.0
0.0 2772.0 2952.0 1158.0 0.0 2565.0 0.0 210.0 522.0 1683.0 729.0 0.0
405.0 3936.0 1515.0 2829.0 2106.0 1962.0 1515.0 894.0 0.0 0.0 996.0 0.0
0.0 1326.0 0.0 1191.0 2130.0 1347.0 1197.0 813.0 1089.0 2517.0 2427.0
2220.0 4098.0 0.0 1587.0 0.0 288.0 909.0 2703.0 1812.0 630.0 0.0 2664.0
1941.0 573.0 4548.0 1290.0 1857.0 2400.0 1443.0 0.0 2574.0 1737.0 0.0
9429.0 837.0 4344.0 1989.0 1827.0 1074.0 0.0 0.0 1389.0 0.0 1839.0 498.0
1140.0 2298.0 585.0 1008.0 0.0 0.0 0.0 0.0 0.0 912.0 0.0 411.0 1245.0 0.0
3927.0 2979.0 2061.0 0.0 4527.0 2496.0 138.0 0.0 2673.0 1344.0 3030.0
384.0 0.0 360.0 0.0 288.0 384.0 654.0 4188.0 2082.0 0.0 1668.0 1263.0
654.0 0.0 3480.0 0.0 1566.0 0.0 0.0 2445.0 0.0 1938.0 0.0 4011.0 1362.0
0.0 2103.0 2274.0 1092.0 1959.0 0.0 1047.0 1395.0 1593.0 1593.0 1593.0
1593.0 1662.0 1593.0 1593.0 1593.0 1593.0 1593.0 1593.0 1593.0 1593.0
1593.0 1593.0 1593.0 1593.0 1593.0 0.0 1593.0 0.0 '.' 1593.0 '.' 1058.0
'.' 0.0 0.0 0.0 576.0 0.0 840.0 672.0 921.0 18921.0 0.0 1245.0 0.0 '.'
618.0 '.' 0.0 0.0 '.' '.' 140.0 '.' 336.0 '.' 1464.0 984.0 1776.0 4452.0
642.0 1344.0 2559.0 756.0 681.0 897.0 867.0 0.0 0.0 921.0 663.0 630.0
738.0 798.0 2361.0 0.0 1944.0 747.0 0.0 732.0 1065.0 3141.0 2931.0 0.0
943.0 0.0 '.' 0.0 264.0 1593.0 1593.0 903.0 195.0 204.0 402.0 219.0 198.0
237.0 213.0 840.0 1395.0 1395.0 1395.0 1395.0 1395.0 1395.0 1395.0 1395.0
1395.0 1395.0 1395.0 840.0 213.0 237.0 198.0 219.0 402.0 204.0 58.0 '.'
0.0 264.0 1593.0 1593.0 903.0 195.0 204.0 402.0 219.0 198.0 237.0 213.0
840.0 1395.0 1395.0 1395.0 1395.0 1395.0 1395.0 1395.0 1395.0 1395.0
1395.0 1395.0 840.0 213.0 237.0 198.0 219.0 402.0 204.0 58.0 '.' 177.0
0.0 0.0 1041.0 1503.0 333.0 '.' 0.0 '.' 150.0 4467.0 3702.0 0.0 1140.0
786.0 13125.0 0.0 0.0]' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' 0.0 '.' 56.0 61.0 '.' 97.0 '.' 100.0 73.0 0.0 0.0 100.0 0.0 0.0 0.0
0.0 '.' 13.0 0.0 '.' 100.0 '.' 100.0 '.' 0.0 '.' 0.0 100.0 '.' '.' 0.0
0.0 100.0 0.0 0.0 0.0 100.0 0.0 0.0 0.0 0.0 0.0 100.0 0.0 0.0 0.0 95.0
100.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 100.0 '.' 0.0 100.0 0.0 0.0 0.0 100.0
0.0 0.0 0.0 0.0 0.0 100.0 0.0 0.0 0.0 95.0 100.0 '.' '.' 16.0 '.' 0.0 0.0
100.0 0.0 0.0 100.0 0.0 100.0 0.0 100.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
'.' 0.0 100.0 0.0 100.0 0.0 100.0 0.0 '.' 0.0 0.0 0.0 '.' 0.0 '.' 30.0
100.0 100.0 0.0 0.0 0.0 0.0 100.0 0.0 100.0 100.0 6.0 0.0 44.0 '.' 100.0
100.0 100.0 100.0 100.0 100.0 100.0 '.' 43.0 0.0 '.' 0.0 0.0 0.0 0.0 '.'
59.0 100.0 0.0 0.0 100.0 100.0 0.0 100.0 88.0 100.0 0.0 100.0 100.0 100.0
100.0 100.0 0.0 100.0 100.0 52.0 0.0 100.0 0.0 100.0 100.0 100.0 82.0
100.0 100.0 0.0 100.0 100.0 0.0 100.0 0.0 0.0 100.0 0.0 100.0 0.0 100.0
100.0 0.0 0.0 100.0 0.0 100.0 0.0 0.0 100.0 100.0 0.0 91.0 100.0 0.0 0.0
100.0 100.0 100.0 100.0 0.0 0.0 100.0 100.0 100.0 100.0 0.0 100.0 100.0
100.0 0.0 0.0 100.0 100.0 0.0 0.0 100.0 0.0 '.' 0.0 100.0 0.0 100.0 0.0
100.0 100.0 0.0 100.0 0.0 0.0 100.0 0.0 0.0 0.0 100.0 0.0 0.0 0.0 100.0
0.0 0.0 0.0 '.' 21.0 '.' 0.0 0.0 100.0 '.' 92.0 100.0 0.0 100.0 100.0 0.0
0.0 100.0 100.0 83.0 0.0 100.0 0.0 100.0 100.0 100.0 100.0 0.0 100.0
100.0 100.0 100.0 100.0 100.0 100.0 100.0 0.0 0.0 100.0 0.0 0.0 100.0 0.0
100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 0.0 100.0 0.0
100.0 100.0 100.0 100.0 100.0 0.0 100.0 100.0 100.0 100.0 100.0 100.0
100.0 100.0 0.0 100.0 100.0 0.0 100.0 100.0 100.0 100.0 100.0 100.0 0.0
0.0 72.0 0.0 100.0 100.0 100.0 100.0 100.0 100.0 0.0 0.0 0.0 0.0 0.0
100.0 0.0 100.0 100.0 0.0 100.0 100.0 100.0 0.0 100.0 100.0 100.0 0.0
100.0 100.0 100.0 96.0 0.0 19.0 0.0 100.0 61.0 44.0 100.0 100.0 0.0 96.0
100.0 100.0 0.0 100.0 0.0 96.0 0.0 0.0 100.0 0.0 100.0 0.0 100.0 100.0
0.0 100.0 100.0 100.0 100.0 0.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0
100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0
100.0 0.0 100.0 0.0 '.' 100.0 '.' 94.0 '.' 0.0 0.0 0.0 100.0 0.0 100.0
100.0 100.0 100.0 0.0 100.0 0.0 '.' 100.0 '.' 0.0 0.0 '.' '.' 5.0 '.'
100.0 '.' 100.0 100.0 84.0 100.0 100.0 100.0 100.0 100.0 95.0 100.0 100.0
0.0 0.0 100.0 75.0 42.0 100.0 100.0 100.0 0.0 100.0 100.0 0.0 100.0 100.0
100.0 100.0 0.0 31.0 0.0 '.' 0.0 100.0 100.0 100.0 100.0 100.0 100.0
100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0
100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0
29.0 '.' 0.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0
100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0
100.0 100.0 100.0 100.0 100.0 100.0 100.0 100.0 29.0 '.' 41.0 0.0 0.0
100.0 100.0 100.0 '.' 0.0 '.' 3.0 100.0 100.0 0.0 100.0 100.0 100.0 0.0
0.0]' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' 1.0 '.' 6.0 6.0 '.' 2.0 '.' 4.0 2.0 4.0 1.0 12.0 3.0 8.0 7.0 5.0 '.'
17.0 5.0 '.' 22.0 '.' 22.0 '.' 5.0 '.' 18.0 3.0 '.' '.' 6.0 26.0 11.0
18.0 3.0 1.0 11.0 1.0 5.0 4.0 1.0 1.0 11.0 8.0 3.0 9.0 1.0 1.0 1.0 2.0
2.0 1.0 3.0 1.0 18.0 9.0 '.' 26.0 11.0 18.0 3.0 1.0 11.0 1.0 5.0 4.0 1.0
1.0 11.0 8.0 3.0 9.0 1.0 1.0 '.' '.' 31.0 '.' 25.0 14.0 2.0 1.0 8.0 2.0
9.0 2.0 6.0 2.0 5.0 3.0 1.0 11.0 1.0 1.0 4.0 7.0 '.' 8.0 2.0 9.0 2.0 6.0
2.0 5.0 '.' 3.0 1.0 11.0 '.' 7.0 '.' 7.0 3.0 2.0 1.0 3.0 1.0 2.0 5.0 1.0
9.0 4.0 7.0 1.0 6.0 '.' 14.0 3.0 3.0 14.0 3.0 14.0 14.0 '.' 16.0 2.0 '.'
4.0 6.0 1.0 4.0 '.' 5.0 14.0 2.0 6.0 3.0 10.0 1.0 10.0 1.0 3.0 1.0 8.0
33.0 25.0 4.0 3.0 2.0 12.0 20.0 1.0 1.0 12.0 12.0 2.0 7.0 8.0 3.0 18.0
6.0 1.0 20.0 9.0 1.0 14.0 1.0 1.0 12.0 1.0 6.0 1.0 11.0 9.0 4.0 1.0 2.0
1.0 5.0 12.0 2.0 6.0 9.0 15.0 1.0 1.0 9.0 7.0 6.0 14.0 7.0 18.0 1.0 8.0
55.0 5.0 5.0 3.0 2.0 21.0 21.0 4.0 2.0 3.0 12.0 5.0 1.0 2.0 10.0 6.0 '.'
7.0 6.0 5.0 5.0 9.0 7.0 8.0 2.0 13.0 1.0 3.0 9.0 2.0 3.0 4.0 8.0 4.0 4.0
4.0 40.0 3.0 6.0 5.0 '.' 9.0 '.' 5.0 1.0 4.0 '.' 8.0 6.0 2.0 4.0 4.0 1.0
3.0 3.0 13.0 1.0 3.0 22.0 3.0 4.0 9.0 10.0 12.0 3.0 4.0 28.0 11.0 23.0
3.0 14.0 7.0 10.0 3.0 4.0 8.0 4.0 6.0 9.0 2.0 9.0 14.0 2.0 5.0 8.0 4.0
16.0 18.0 14.0 22.0 1.0 11.0 1.0 4.0 3.0 26.0 6.0 6.0 1.0 13.0 16.0 8.0
21.0 6.0 13.0 16.0 12.0 4.0 18.0 16.0 4.0 67.0 3.0 18.0 15.0 10.0 8.0 3.0
3.0 1.0 4.0 6.0 5.0 10.0 8.0 6.0 11.0 4.0 6.0 1.0 3.0 4.0 2.0 3.0 4.0
12.0 4.0 22.0 21.0 14.0 1.0 12.0 21.0 2.0 4.0 8.0 9.0 19.0 3.0 2.0 1.0
3.0 2.0 2.0 1.0 9.0 14.0 4.0 1.0 2.0 4.0 2.0 27.0 1.0 1.0 1.0 2.0 18.0
1.0 21.0 1.0 18.0 9.0 4.0 18.0 11.0 3.0 11.0 3.0 2.0 7.0 1.0 1.0 1.0 1.0
1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 1.0 '.'
7.0 '.' 14.0 '.' 6.0 1.0 6.0 6.0 2.0 2.0 8.0 3.0 90.0 5.0 8.0 3.0 '.' 7.0
'.' 8.0 1.0 '.' '.' 23.0 '.' 4.0 '.' 7.0 9.0 1.0 19.0 7.0 7.0 17.0 4.0
1.0 13.0 10.0 1.0 4.0 6.0 1.0 1.0 6.0 3.0 34.0 2.0 16.0 7.0 1.0 13.0 11.0
17.0 27.0 1.0 35.0 4.0 '.' 7.0 2.0 1.0 1.0 7.0 2.0 2.0 3.0 2.0 2.0 3.0
2.0 4.0 4.0 4.0 4.0 4.0 4.0 4.0 4.0 4.0 4.0 4.0 4.0 4.0 2.0 3.0 2.0 2.0
3.0 2.0 2.0 '.' 7.0 2.0 1.0 1.0 7.0 2.0 2.0 3.0 2.0 2.0 3.0 2.0 4.0 4.0
4.0 4.0 4.0 4.0 4.0 4.0 4.0 4.0 4.0 4.0 4.0 2.0 3.0 2.0 2.0 3.0 2.0 2.0
'.' 6.0 1.0 2.0 1.0 4.0 5.0 '.' 23.0 '.' 26.0 15.0 25.0 1.0 8.0 6.0 84.0
1.0 1.0]' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' 1114.0 327.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 53.0
'.' 0.0 90.0 '.' '.' '.' '.' '.' '.' '.' 3130.0 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' 488.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' 82.0 '.' '.' '.' 4580.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
7032.0 '.' 7032.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' 37.0 '.' '.'
41134.0 '.' '.' '.' '.' 597.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 6098.0 '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' 0.0 '.' 2859.0 '.' '.' '.' 12103.0 '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' 6214.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.0 '.' '.' '.' 928.0 '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' 3733.0 2349.0 '.' 9797.0 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' 412.0 '.' 9797.0 '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' 412.0 '.' 124.0 '.' '.' '.' '.' '.' '.' 1187.0 '.' 555.0
'.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' 149194105.0 '.' 196756231.0 196788860.0 '.' 248753787.0 '.'
46992020.0 47083456.0 47096453.0 47133334.0 47157988.0 47177206.0
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21038123.0 21040700.0 21145580.0 21145766.0 21208605.0 21932513.0
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34430129.0 34442319.0 34597786.0 '.' 32611681.0 32684850.0 32888793.0
33205546.0 33215160.0 33262081.0 33298270.0 '.' 33571843.0 33966044.0
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44270938.0 '.' 242865920.0 242912833.0 242943359.0 242989834.0 '.'
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21369453.0 21383006.0 21388464.0 21396680.0 21400234.0 21457304.0 '.'
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64430932.0 64501329.0 64547021.0 64670545.0 65160613.0 '.' 97483364.0 '.'
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141035363.0 '.' 53250653.0 53262057.0 53401069.0 53432604.0 53449821.0
53458208.0 53559056.0 53583183.0 53584152.0]' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' 149194269.0 '.' 196764537.0 196799302.0 '.' 248761001.0 '.'
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7718465.0 7740185.0 7753583.0 '.' 7212885.0 7177618.0 7191501.0 7196229.0
7243080.0 7274385.0 7287870.0 7321064.0 7332604.0 7343922.0 7347115.0
7366833.0 7399972.0 7417234.0 7432528.0 7440175.0 7575975.0 7583623.0
7591271.0 7598918.0 7606566.0 7614214.0 7621862.0 7629510.0 7638935.0
7673238.0 7681402.0 7686575.0 7698764.0 7718465.0 7740185.0 7753583.0 '.'
56987065.0 56986460.0 56987833.0 57026541.0 57123832.0 57131368.0 '.'
141061798.0 '.' 53254389.0 53350548.0 53449603.0 53432697.0 53458063.0
53461317.0 53713664.0 53583302.0 53584235.0]' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 14.0
14.0 7.0 1.0 1.0 1.0 1.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' 14.0 14.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' 60.0 1.0 '.' '.' '.' '.' '.' '.' 59.0 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' 26.0 26.0 '.' '.' '.' '.' '.' '.' 626.0
'.' 11.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' 9.0 '.' '.' '.' '.' '.' '.'
10.0 3.0 '.' '.' 8.0 8.0 27.0 '.' '.' '.' 1.0 '.' '.' 27.0 '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' 3.0 '.' '.' '.' '.' 8.0 '.' 15.0 '.' '.' '.' 502.0 '.'
'.' '.' '.' '.' '.' '.' '.' '.' 2.0 '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' 2.0 '.' '.' '.' '.' '.' '.' '.' 5.0 5.0 '.' '.'
'.' '.' 1051.0 '.' '.' '.' '.' '.' '.' '.' '.' 61.0 '.' '.' 96.0 12.0 '.'
'.' '.' '.' '.' 1.0 '.' '.' '.' 21.0 213.0 '.' '.' '.' '.' '.' '.' 1.0
1.0 '.' '.' 2.0 '.' '.' '.' '.' '.' 39.0 '.' 32.0 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' 8.0 '.' '.' '.' '.' '.' '.' 4.0 '.' '.'
'.' 76.0 2.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
12.0 '.' '.' '.' '.' 199.0 161.0 '.' '.' '.' 1.0 '.' '.' 142.0 '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 1.0 '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' 435.0 '.' '.' '.' '.' '.' '.' '.' '.' 435.0 '.' '.' '.'
'.' '.' '.' '.' '.' '.' 2.0 2.0 '.' '.' 127.0 '.' 1.0 '.' '.' '.' '.' '.'
'.' 1.0 '.' 1.0 '.' '.' '.' '.' '.' '.' '.' 124.0 18.0 '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' 277.0 6.0 136.0 118.0 '.' '.' 4.0
13.0 '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '[0.08 0.08 0.1822 0.1822 0.1822 '.' '.' 0.11 0.9544 0.11 0.11 0.9544 0.11
0.11 0.11 0.11 0.11 '.' '.' '.' '.' 0.0257 '.' 0.0257 '.' 0.02 0.1799
0.1799 0.1799 0.0828 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 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 0.0144 '.' '.' '.'
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 0.09 0.1875 0.07 0.8086 0.3314 0.3314
0.3314 0.3314 0.3314 0.515 '.' 0.515 0.07 0.06 0.1875 0.1875 '.' '.' '.'
'.' '.' 0.272 0.272 0.272 '.' '.' '.' '.' '.' '.' '.' 0.03 0.1041 0.1041
0.0994 0.0994 0.0994 0.0994 0.03 0.17 0.17 0.5406 '.' '.' '.' '.' 0.0951
'.' 0.0355 0.0355 0.0355 0.01 0.01 '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.0509 0.0509
0.0509 0.0509 0.0509 0.0509 0.0509 0.0509 0.0509 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.01 0.01 0.01 0.01 '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' 0.03 0.4682 0.4682 0.0556 '.' 0.01 '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' 0.1145 0.1145 0.1145 0.1145 0.1145 0.1145 0.1145 0.1145
0.1145 0.1145 0.1145 0.1145 0.1145 0.1145 0.1145 0.1145 0.1145 0.1145
0.1145 0.1145 0.1145 0.1145 0.4178 0.4178 0.1231 0.1231 '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' 0.6839 0.6839 0.1073 0.1073 0.1073
0.3704 '.' '.' 0.01 0.01 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355
0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355
0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355
0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355
0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355
0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 0.2355
0.2355 0.2355 0.2355 0.2355 0.2355 0.2355 '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '[0.3041 0.3041 0.4486 0.4486 0.4486 0.2767 0.2767 0.026 0.026 0.026 0.026
0.026 0.04 0.04 0.04 0.026 0.0318 '.' '.' '.' '.' 0.01 '.' 0.01 '.'
0.0107 0.8135 0.8135 0.8135 0.2438 0.1 0.271 0.271 0.271 0.271 0.271
0.271 0.271 0.271 0.271 0.271 0.13 0.13 0.13 0.13 0.13 0.13 0.13 0.13
0.13 0.13 0.13 0.13 0.13 0.1 0.1 0.1 0.13 0.271 0.271 0.271 0.271 0.271
0.271 0.271 0.271 0.271 0.13 0.13 0.13 0.13 0.13 0.13 0.13 0.13 0.168 '.'
'.' '.' 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 0.0715 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 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 '.' 0.0982 0.15
0.15 0.0982 0.1 0.0982 '.' 0.07 0.07 0.2994 0.0686 0.0686 0.0686 0.0804
0.0804 '.' 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 0.01 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 0.0959 0.0959 0.0959 0.0284 0.0189
0.03 0.03 0.0118 0.0604 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 0.03 0.0746 0.0746 0.0746 '.' 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 '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' 1.0 1.0 1.0 1.0 1.0 0.013 0.013 0.013 0.013 0.013
0.013 0.013 0.013 0.013 0.013 0.013 0.013 0.013 0.013 0.013 0.013 0.013
0.8518 0.8518 0.0497 0.0497 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' 0.187 0.187 0.4519 0.4519 0.4519 0.4631 '.' '.' '.' 0.01 '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.01 '.' '.' '.' '.'
0.01 '.' 0.01 0.01 0.01 0.01 '.' '.' '.' '.' '.' 0.2237 0.2237 0.2237
0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237
0.2237 0.5803 0.4842 0.4842 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237
0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.3262 0.5182
0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237
0.2237 0.2237 0.2237 0.2237 0.5803 0.4842 0.4842 0.2237 0.2237 0.2237
0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237 0.2237
0.2237 0.3262 0.5182 '.' '.' '.' '.' '.' '.' '.' 0.01 0.01 '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '[0.4999 0.4999 0.3095 0.3095 0.3095 0.4394 0.4394 0.0179 0.0179 0.0179
0.0179 0.0179 0.0179 0.0179 0.0179 0.0179 0.0179 0.432 0.432 0.432 0.107
0.107 0.107 0.107 '.' '.' 0.0264 0.0264 0.0264 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' 0.157 0.157 0.157 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' 0.4996 0.4996 0.4996 0.4996 0.4996 0.4996
0.4996 0.4996 0.4996 0.4996 0.4996 0.4996 0.4996 0.4996 0.4996 0.4996
0.4996 0.4996 0.4996 0.4996 0.4996 0.4996 0.4996 0.4996 0.4996 0.4996
0.4996 0.4996 0.4996 0.4996 0.4996 0.4996 0.4996 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' 0.2252 0.2252 0.2252 0.2252 0.2252
0.2252 0.2252 0.2252 0.2252 0.2252 0.2252 '.' '.' '.' '.' '.' 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 0.4801 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 0.1686 0.3422 0.3422
0.3422 0.3422 0.3422 0.3422 0.3422 0.3422 0.3422 0.3422 0.3422 0.3422
0.3422 0.3422 0.3422 0.3422 0.3422 0.3422 0.3422 0.3422 0.3422 0.3422
0.3422 0.3422 0.3422 0.3422 0.1142 0.1142 0.1142 0.1142 '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' 0.0144 0.0144 0.0144 0.0144 0.0144 0.0144 0.0144 0.0144 0.0144 0.0144
0.0144 0.0144 0.0144 0.0144 0.0144 0.0144 0.1474 0.1474 0.1474 0.1474
0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474
0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474
0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474
0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474
0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474
0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474
0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474
0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1474 0.1946 0.1946 0.2771
0.2771 0.5483 0.5483 0.5483 0.5483 0.5483 0.5483 0.5483 0.5483 0.5483
0.5483 0.5483 0.5483 0.5483 '.' '.' 0.3871 0.3871 0.3871 0.1414 0.381
0.381 0.381 0.381 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5
0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' 0.128 0.128 0.128 0.128 0.128 0.128 0.128 0.128 0.128 0.128]' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '[0.455 '.' 0.35 '.' '.' 0.305 '.' 0.415 '.' '.' '.' '.' '.' '.' '.' '.'
'.' 0.565 '.' '.' 0.53 '.' 0.53 '.' 0.25 '.' 0.42 '.' '.' 0.355 0.38 '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' 0.31 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' 0.34 0.52 '.' 0.225 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.255 '.' '.' '.' '.' '.'
'.' '.' 0.43 '.' '.' '.' 0.385 '.' 0.505 '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' 0.435 '.' '.' '.' '.' '.' '.' '.' 0.38 '.' '.'
0.4 '.' '.' '.' '.' 0.445 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.355 '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
0.455 '.' 0.47 '.' '.' '.' 0.445 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' 0.4 '.' 0.395 '.' 0.335 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' 0.365 '.' 0.375 '.' '.' 0.325 0.325 '.' 0.365 '.' 0.37 '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' 0.26 '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' 0.26 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' 0.41 '.' '.' '.' '.' '.' '.' 0.535 '.' 0.42 '.' '.' '.' '.'
'.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '[0.44 '.' 0.285 '.' '.' 0.33 '.' 0.5 '.' '.' '.' '.' '.' '.' '.' '.' '.'
0.545 '.' '.' 0.43 '.' 0.43 '.' 0.39 '.' 0.38 '.' '.' 0.425 0.455 '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' 0.275 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' 0.66 0.5 '.' 0.335 '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.275 '.' '.' '.' '.' '.' '.'
'.' 0.365 '.' '.' '.' 0.335 '.' 0.42 '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' 0.515 '.' '.' '.' '.' '.' '.' '.' 0.46 '.' '.' 0.46
'.' '.' '.' '.' 0.32 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.43 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.335
'.' 0.415 '.' '.' '.' 0.425 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
0.365 '.' 0.58 '.' 0.275 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
0.315 '.' 0.51 '.' '.' 0.27 0.37 '.' 0.32 '.' 0.355 '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' 0.33 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' 0.33 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' 0.33 '.' '.' '.' '.' '.' '.' 0.38 '.' 0.295 '.' '.' '.' '.' '.' '.'
'.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' 30.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' 3.0 30.0 '.' '.' '.' '.' '.' '.' 3.0 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' 3.0 3.0 '.' '.' '.' '.' '.' '.' 1.0 '.'
30.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' 30.0 '.' 0.0 '.' '.' '.' '.' '.'
'.' '.' '.' '.' 30.0 1.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' 30.0 '.' '.' '.' '.' '.' '.' 30.0 1.0 '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 30.0 '.' '.' '.' '.' 3.0
'.' '.' '.' '.' 30.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' 30.0 0.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' 30.0 '.'
'.' '.' '.' '.' 0.0 0.0 3.0 '.' 0.0 '.' '.' 30.0 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 30.0 30.0 '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 3.0 '.' '.' '.' '.'
30.0 '.' '.' '.' '.' '.' '.' '.' 0.0 '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' 30.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' 3.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' 3.0 '.' 0.0 '.' '.' '.' '.' '.' 0.0 '.' 0.0 '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.0 '.' '.' '.' '.' '.' '.' 30.0
3.0 3.0 3.0 3.0 '.' '.' 0.0 0.0 '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.0 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' 0.0 '.' '.' '.' '.' '.' '.' '.' '.'
0.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.0 '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' 0.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' 0.0 '.' '.' '.' '.' '.' '.' '.' 0.0 '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.0 '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' 0.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' 0.0 0.0 0.0 '.' 0.0 '.' '.' 0.0 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.0 '.' '.' '.' '.'
0.0 '.' '.' '.' '.' '.' '.' '.' 0.0 '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' 0.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' 0.0 '.' 0.0 '.' '.' '.' '.' '.' 0.0 '.' 0.0 '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.0 '.' '.' '.' '.' '.' '.' 0.0
'.' 0.0 0.0 0.0 '.' '.' 0.0 0.0 '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' 98.26 98.26 92.58 92.08 92.08 89.5 82.54 66.73 '.' '.' 75.66 89.5
'.' '.' '.' 67.28 40.7 67.28 81.13 81.13 81.13 81.13 '.' '.' 85.75 85.75
79.11 '.' 93.81 '.' '.' 93.81 '.' '.' '.' 92.58 '.' '.' '.' '.' '.' 91.86
'.' '.' '.' 76.23 75.33 '.' '.' '.' '.' '.' '.' '.' 93.48 93.81 '.' 93.81
'.' '.' '.' 92.58 '.' '.' '.' '.' '.' 91.86 '.' '.' '.' 76.23 75.33 '.'
69.24 69.24 94.39 '.' '.' 92.49 '.' '.' 94.39 '.' 91.96 '.' 92.24 '.' '.'
'.' '.' '.' '.' '.' '.' 94.39 '.' 94.39 '.' 91.96 '.' 92.24 '.' '.' '.'
'.' '.' '.' '.' 96.58 60.22 96.58 42.95 '.' '.' '.' '.' 40.48 '.' 59.06
86.77 52.33 '.' 49.2 94.43 94.43 88.85 84.65 '.' 88.49 93.12 93.73 16.23
16.23 '.' '.' '.' '.' '.' '.' 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 '.' '.' '.' '.' 68.54 '.'
27.35 '.' 66.14 '.' 68.54 7.39 '.' 17.72 '.' '.' 8.63 '.' '.' '.' 19.72
'.' '.' '.' 31.58 '.' '.' '.' 10.16 10.16 95.22 '.' '.' 95.22 '.' 93.0
'.' '.' 90.28 89.36 '.' '.' 96.95 73.18 '.' '.' 31.26 '.' '.' 77.92 '.'
41.81 '.' 57.56 66.55 72.33 68.02 74.45 69.73 61.34 88.48 '.' '.' 77.93
'.' '.' 30.46 '.' 7.13 81.41 80.2 86.49 41.08 60.14 92.5 6.4 63.78 '.'
'.' 62.86 '.' '.' 40.87 74.11 46.58 51.38 '.' 65.21 '.' 46.49 63.75 81.36
63.94 46.84 74.85 '.' 76.1 77.79 '.' 7.59 38.82 76.68 76.94 75.35 81.97
93.6 '.' 68.35 '.' 80.7 73.9 65.63 89.21 '.' 39.55 '.' '.' '.' '.' '.'
1.21 '.' 76.44 39.31 96.4 74.81 72.76 43.19 '.' 98.01 52.99 '.' '.' 33.79
50.29 83.66 78.84 '.' '.' '.' 89.8 84.97 72.47 62.19 58.66 '.' '.' 53.19
50.3 '.' 69.5 '.' 96.06 '.' '.' 70.06 '.' 63.64 '.' 89.77 70.02 '.' 82.99
87.71 91.64 75.68 '.' 66.38 98.14 88.87 92.38 91.28 93.57 88.6 91.84 91.4
89.82 92.3 93.14 90.3 94.26 92.83 92.3 93.97 94.31 95.78 94.78 '.' 94.83
'.' 87.45 87.45 98.37 98.37 38.97 '.' '.' '.' 5.94 '.' 38.68 38.97 28.58
25.58 '.' 10.63 '.' 38.68 38.68 '.' '.' '.' '.' 17.13 17.13 '.' '.' 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 '.' 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 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 78.38 29.1 '.'
'.' 78.38 15.18 47.62 53.39 53.39 75.6 11.71 26.16 14.23 '.' 75.6 21.63
10.58 '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
-0.648300458519823 -0.648300458519823 -1.23986898178133 '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
-1.52736818830718 -1.52736818830718 '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' -2.62354415217069 -2.62354415217069
-2.62354415217069 -2.62354415217069 '.' '.' '.' '.' -2.62354415217069 '.'
-2.62354415217069 -2.62354415217069 -2.62354415217069 '.'
-2.62354415217069 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' -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 '.' '.' '.'
'.' 0.730304227093642 '.' '.' '.' 0.0947592166796515 '.' '.'
0.226822637024357 '.' 0.730304227093642 '.' '.' 0.167507008532066 '.' '.'
'.' 0.557303960601498 '.' '.' '.' -1.39811826175974 '.' '.' '.'
0.309918017790144 0.309918017790144 '.' '.' '.' '.' 1.29231994213647 '.'
'.' '.' 0.287750339613682 -0.117374836114298 '.' '.' '.'
0.208571775574472 '.' '.' -1.62508422066579 '.' '.' -2.62354415217069 '.'
1.08104400698142 '.' 0.307891021887021 1.00920516918233 0.68130369659025
0.720690705407562 0.0296456908307138 -1.6058292542185 0.15762668797229
-1.10887487197032 '.' '.' 0.386184284132793 '.' '.' 0.372261467334061 '.'
0.506320833777115 '.' '.' '.' -0.996144409589105 '.' -0.738565549612952
-0.683349552436101 0.214548231055587 '.' '.' 0.0789021097033232 '.' '.'
0.098456637925367 1.28008098953073 0.701548607121356 0.152551047660427
'.' -0.0027219090002731 '.' 0.675314441657105 0.047435784931723
0.0037689132250533 0.0147924168443993 0.415100440885564 0.411355639726539
'.' '.' -1.99297870008351 '.' -0.672019089975884 '.' 0.764664139864726
-2.62354415217069 '.' -0.901439467568047 '.' '.' '.' '.'
0.337011959699387 '.' -1.04982790537607 -0.48130989574319
-0.025549754331335 0.843231894587517 '.' '.' '.' '.' '.' 0.15460042661567
'.' -0.6295570831736 -0.246593908057665 '.' -0.675336787286134
-2.57221447207538 -2.45831687825306 '.' 0.369490376960693
0.975078008148592 '.' '.' 0.279433736423428 0.338434929038259
-1.20308868163847 0.686792213866423 '.' '.' '.' -0.0213485169134644
0.629248196007981 '.' 0.495223937339359 0.38643088540431 '.' '.'
0.052084742182682 0.649976625334672 '.' 1.29231994213647 '.'
-0.246463271906552 '.' '.' -2.62354415217069 '.' 0.337838438332487 '.'
-0.370323251116391 -0.536935947037787 '.' -2.37227679543374
-2.36525961978995 -2.62354415217069 -2.62354415217069 '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' 0.855259196084686 '.' '.' '.' 0.855259196084686 '.'
-0.0315707309390069 0.478729015674934 '.' '.' '.' 0.745040589608255 '.'
'.' '.' '.' '.' '.' '.' -2.43637392050626 -2.43637392050626 '.' '.'
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 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' 0.98432298330431 0.98432298330431 '.'
'.' 0.159444434408663 0.393657994766781 0.447428062348521
0.107633755409335 0.107633755409335 '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
0.663432885116562 0.663432885116562 0.616417349113344 '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
-0.448946429663129 -0.448946429663129 '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' -0.276965016632095 -2.20885612270982
-2.20416703243077 -0.276965016632095 '.' '.' '.' '.' -1.55852578268999
'.' -1.25885348060374 -2.24141606178004 -2.53125239294469 '.'
-2.53125239294469 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' -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 '.' '.' '.'
'.' 1.22944963357105 '.' '.' '.' -0.338299474644844 '.' '.'
-2.4455441384945 '.' 0.636006512326363 '.' '.' 0.979835184836382 '.' '.'
'.' 1.22944963357105 '.' '.' '.' -0.477054147176997 '.' '.' '.'
-0.416168538751037 -0.416168538751037 '.' '.' '.' '.' 1.20702378077388
'.' '.' '.' 0.450417704041247 -1.63248668554434 '.' '.' '.'
-1.00399823985698 '.' '.' -0.147567114346182 '.' '.' -2.53125239294469
'.' 0.21167380707342 '.' -0.276081088005473 -1.32268830826731
-0.684900012122083 -0.962987167732907 -0.811800830743971
-1.19882139820352 -0.095835364724166 -0.266612828851805 '.' '.'
-0.507819648222944 '.' '.' -0.687680790971782 '.' -1.33825481458672 '.'
'.' '.' -0.44060461568473 '.' -1.04002887445022 -0.392116289350703
-0.175454101774909 '.' '.' 0.586448065563417 '.' '.' 0.547035422647778
-0.213680271829885 -0.365908352795815 -0.352633837012323 '.'
-0.788064481059993 '.' -0.278968200252929 0.578303279433319
0.175301121417126 -0.755069155443864 -0.0353582367682211
0.128499204561582 '.' '.' -1.29609278714656 '.' 1.20702378077388 '.'
0.714317785060336 0.291115018050139 '.' -1.0008332959639 '.' '.' '.' '.'
0.333342940376347 '.' 0.837810587333259 0.452744382601107
0.153242929586267 0.108678775214296 '.' '.' '.' '.' '.' 0.172845644735031
'.' 0.0670299843738293 0.0285262483698947 '.' -0.144705826949755
-0.38737545040403 -0.486186941840208 '.' 0.371330581311454
0.865866943304307 '.' '.' 0.30418592454869 0.422718688109719
-0.039423685654856 0.236901723651345 '.' '.' '.' -0.684657921159283
0.195831367621135 '.' -0.201270287076057 0.788716334548764 '.' '.'
-0.284361515719772 -1.27240513662323 '.' 0.27620541213653 '.'
-0.572766431683099 '.' '.' -0.232673834093773 '.' -0.499016330621921 '.'
-0.462112374732113 -0.623131034083341 '.' -0.95101441383295
-1.15479952515637 -1.33186842996177 -1.41032367542656 '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' 1.02927857149332 '.' '.' '.' 1.02927857149332 '.'
0.414676882744812 0.798950378312061 '.' '.' '.' 1.00834122048279 '.' '.'
'.' '.' '.' '.' '.' -2.53125239294469 -2.53125239294469 '.' '.'
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 '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.46663829854876
-0.0464637247715686 '.' '.' 0.46663829854876 -2.53125239294469
0.400234098889925 -1.97676981971355 -1.97676981971355 '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
0.155145712015149 0.155145712015149 -0.188374414893838 '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
-0.844654865976432 -0.844654865976432 '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' '.' '.' '.' '.' '.' -1.64032033771268 -2.47162789907313
-2.47162789907313 -1.64032033771268 '.' '.' '.' '.' -2.47162789907313 '.'
-2.47162789907313 -2.47162789907313 -2.47162789907313 '.'
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-2.47162789907313 '.' '.' -2.47162789907313 -2.47162789907313
-2.47162789907313 -2.47162789907313 -2.47162789907313 '.' '.'
-2.47162789907313 '.' '.' '.' '.' '.' -2.47162789907313 -2.47162789907313
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-2.47162789907313 '.' -2.47162789907313 '.' '.' -2.47162789907313 '.'
-2.47162789907313 '.' -2.47162789907313 '.' '.' '.' '.' '.' '.' '.' '.'
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'.' 1.15014257139245 '.' '.' '.' -0.173049359454575 '.' '.'
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'.' 1.15014257139245 '.' '.' '.' -0.711187689176027 '.' '.' '.'
-0.151628993663861 -0.151628993663861 '.' '.' '.' '.' 1.11611247300207
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'.' '.' -1.46605851541056 '.' 0.455761090475751 '.' 0.923141277111761
-2.47162789907313 '.' -1.03424805406881 '.' '.' '.' '.' 0.48201697995522
'.' 0.0401032398207032 0.130333981724112 0.138678963648336
0.455109011286475 '.' '.' '.' '.' '.' 0.256065903692486 '.'
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0.447874019110796 '.' 0.0915777485634488 0.774883176364413 '.' '.'
-0.145832700564166 -0.777477966060391 '.' 0.660060919341019 '.'
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-1.59282400997772 -1.94147419136763 -1.95519140378666 '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' 1.26063232799998 '.' '.' '.' 1.26063232799998 '.'
0.420940108293089 0.929744998199481 '.' '.' '.' 1.19108832249232 '.' '.'
'.' '.' '.' '.' '.' -2.47162789907313 -2.47162789907313 '.' '.'
0.491444562429841 '.' '.' -0.895389454591556 0.395552906953086
-0.0819162539430506 -0.751016280020485 -0.327638361779731 '.'
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-0.688425296234703 -0.46244511082827 '.' '.' -1.04153334326364 '.'
-0.396805714672051 -0.247951312124761 '.' -0.292110083865967
-0.225638310792768 -0.401705936344982 0.491444562429841 '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.586548999968454
0.36681079114905 '.' '.' 0.524682444320288 -2.47162789907313
0.586548999968454 -1.34878674017516 -1.34878674017516 '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' 1.07662990621103 0.6684477327677 1.07662990621103
0.553342166544692 0.553342166544692 -2.98697085794417 -3.10473776124822
-2.98697085794417 '.' '.' '.' '.' '.' '.' '.' 0.635599914039232
0.0819191978639822 0.635599914039232 1.02618176351368 1.02618176351368
1.02618176351368 1.02618176351368 '.' '.' 2.96959666946894
-0.328810289068687 2.96959666946894 '.' 2.22375841006203 '.' '.'
0.630577750419089 '.' '.' '.' 2.22375841006203 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' -0.271906921498889 '.' '.' '.' '.' '.' '.' '.' '.'
2.22375841006203 '.' 0.630577750419089 '.' '.' '.' 2.22375841006203 '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' -0.271906921498889 '.'
-0.922111894578121 -0.922111894578121 1.56757328357025 '.' '.'
1.56757328357025 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
3.6772325764896 0.16322796385632 1.67462394349301 3.6772325764896 '.' '.'
'.' '.' -0.424806725478425 '.' 0.241972873531725 -0.193191475026352
0.433099426603836 '.' 0.622094281610252 2.42746656950142 2.42746656950142
'.' 1.02068766819866 '.' '.' '.' 1.8673923772413 -0.71959827485963
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'.' -0.184731887964386 1.18735715980007 '.' 0.459211010381399
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-0.002241469611443 2.36782594176173 -0.373621593221624 '.'
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1.46130508236304 '.' 0.690563071344625 '.' '.' -1.98609532754524 '.'
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'.' 0.698499439551705 '.' '.' '.' '.' '.' '.' '.' '.' '.'
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'.' 0.85336181383742 '.' '.' -0.764855351937167 '.' '.' '.'
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-2.08573739588537 '.' '.' -1.34614550091757 0.724425471954094 '.' '.'
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0.0230368692484615 -0.527208917402428 -0.362920265024982 '.'
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0.837642525932054 -0.774788091773142 1.55687904782076 -3.22135273058939
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0.172471674763915 '.' '.' '.' -0.54023780146542 0.311204487601666
0.837271434822507 '.' '.' '.' 0.251281715605183 1.72296511806951
2.75338717063303 -1.04317795810088 -0.521938260031064 '.' '.'
0.664832774210228 0.934834224809331 '.' -1.05139548669208 '.'
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-0.488109075837714 -0.663631774481401 -2.6391793475309 '.'
1.46868520416757 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' 0.741987855668132 0.741987855668132
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'.' '.' 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 '.' 2.14121257165536 '.' '.' '.' '.'
-1.59751875296103 '.' '.' 2.14121257165536 '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.918523398770926
0.676417083229402 1.33624136747443 0.140072348156658 '.' 1.12959151611996
2.14121257165536 '.' '.' '.' '.' -1.59751875296103 '.' '.'
2.14121257165536 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' 0.918523398770926 0.676417083229402 1.33624136747443
0.140072348156658 '.' 1.12959151611996 2.2343517715388
-0.0133102053832282 '.' '.' 2.2343517715388 -0.349819812502603
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0.807946261414963 -1.20041549946446 -0.257046228208263 -0.112682658348456
'.' 0.80408198011521 0.807946261414963 -1.65771922174252 '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' 1.30887789301822 0.697024247535932 1.30887789301822
-0.565086620797697 -0.565086620797697 -2.90416172871297 -3.32991530871711
-2.90416172871297 '.' '.' '.' '.' '.' '.' '.' 1.04727080312339
0.0377121632347663 1.04727080312339 1.66555804568279 1.66555804568279
1.66555804568279 1.66555804568279 '.' '.' 4.05533207481267
-0.503765753071617 4.05533207481267 '.' 2.58284576037233 '.' '.'
0.0606178603183018 '.' '.' '.' 2.58284576037233 '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' -0.565772314050669 '.' '.' '.' '.' '.' '.' '.' '.'
2.58284576037233 '.' 0.0606178603183018 '.' '.' '.' 2.58284576037233 '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' -0.565772314050669 '.'
-1.23259677674915 -1.23259677674915 2.11426077975333 '.' '.'
2.11426077975333 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
4.17517843763452 0.511864222455301 1.73432863871862 4.17517843763452 '.'
'.' '.' '.' 1.07197498670855 '.' -0.405588628410555 0.152950560142403
0.962176598220999 '.' 0.322678575541803 2.41694262394586 2.41694262394586
'.' 1.31010018701924 '.' '.' '.' 2.14567117504116 0.443929223699058
0.443929223699058 '.' '.' '.' '.' '.' '.' 5.29477062168781
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1.02819617031079 0.932740471460801 '.' 1.99698466418685 -1.19469008098196
3.98018572942351 -0.450618700229176 0.836381939603491 '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' 2.39892044394279 '.' 2.85964800561254
2.65389095774821 '.' '.' 5.29477062168781 -0.349034099945665
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'.' 1.81088903222596 '.' '.' '.' 2.61388539526619 '.' '.' '.'
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'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
1.6951286981971 1.6951286981971 -0.0274451648003615 -0.0274451648003615
1.83366808117122 '.' '.' '.' 0.322004765294048 '.' 0.9911283716698
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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 '.' 2.19863945242443 '.' '.' '.' '.' -3.97736276921453
'.' '.' 1.8677219993927 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' 0.008093353918723 1.6332400949348
2.19863945242443 0.903069021299127 '.' 0.758429673080804 2.19863945242443
'.' '.' '.' '.' -3.97736276921453 '.' '.' 1.8677219993927 '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.008093353918723
1.6332400949348 2.19863945242443 0.903069021299127 '.' 0.758429673080804
2.48184869967673 2.09183372030708 '.' '.' 2.48184869967673
1.96019845356841 -0.857804306808559 1.58912949219012 1.58912949219012
9.03470791370173 5.44441583895939 4.55717824142058 6.67845368195785 '.'
0.293719819544616 2.17074250392365 9.03470791370173 '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' 101954269.0 '.' 10878.0 3078.0 '.' 127069.0 '.' 9721.0 5540.0
643650.0 728643.0 728113.0 100132929.0 653259.0 439965.0 100996567.0 '.'
582.0 254359.0 '.' 283417.0 '.' 283417.0 '.' 105370401.0 '.' 399671.0
641371.0 '.' '.' 646096.0 283755.0 727832.0 729786.0 606.0 100422949.0
100287399.0 100847060.0 348120.0 654499.0 '.' 646243.0 100996331.0
440225.0 727924.0 101927079.0 390538.0 283694.0 390539.0 388077.0
646370.0 100302233.0 646396.0 100616223.0 100132979.0 283767.0 '.'
283755.0 727832.0 729786.0 606.0 100422949.0 100287399.0 100847060.0
348120.0 654499.0 '.' 646243.0 100996331.0 440225.0 727924.0 101927079.0
390538.0 283694.0 '.' '.' 9742.0 '.' '.' 100289574.0 729264.0 '.' '.'
24150.0 386757.0 653550.0 '.' 729355.0 '.' '.' 113218496.0 102724928.0
606551.0 '.' '.' 283914.0 '.' '.' 24150.0 386757.0 653550.0 '.' 729355.0
'.' '.' '.' 113218496.0 102724928.0 '.' 283914.0 '.' 1352.0 146822.0
9953.0 '.' 94150.0 '.' 94151.0 5376.0 100616125.0 64518.0 284040.0
100533496.0 94145.0 201158.0 '.' 414059.0 414062.0 9560.0 101060389.0
6349.0 729877.0 84218.0 '.' 284058.0 644246.0 '.' 101927289.0 101927289.0
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8220.0 23617.0 2928.0 100652736.0 6576.0 8218.0 7290.0 64976.0 128977.0
105372860.0 7353.0 8318.0 7122.0 150185.0 5413.0 '.' 2812.0 6899.0
54584.0 79680.0 10587.0 1312.0 100616414.0 421.0 128989.0 406961.0
54487.0 100500860.0 100302197.0 27037.0 102465490.0 5902.0 109617010.0
29801.0 388849.0 284865.0 150197.0 65078.0 100302118.0 85359.0 653203.0
'.' 728226.0 728229.0 728233.0 85376.0 117134597.0 729461.0 101927859.0
7625.0 91179.0 84861.0 51586.0 '.' 84222.0 5297.0 3053.0 9342.0 1399.0
101928891.0 150209.0 8216.0 80764.0 439931.0 113691.0 9127.0 6545.0
693234.0 440799.0 400891.0 400892.0 '.' 285401.0 132204.0 '.' 132203.0
100130345.0 132200.0 80145.0 '.' 6314.0 100861563.0 100507062.0 9861.0
'.' 100652759.0 100287879.0 166336.0 '.' '.' 101929316.0 56999.0
101929335.0 100507098.0 102724763.0 '.' 84100.0 '.' 440993.0 693155.0
200958.0 '.' 152687.0 255403.0 642280.0 654254.0 7700.0 693156.0 79963.0
170960.0 54872.0 112441426.0 '.' 5158.0 101928521.0 521.0 4636.0 84179.0
10336.0 100129917.0 10815.0 2580.0 84286.0 1609.0 10861.0 3425.0 53834.0
285498.0 '.' '.' 10417.0 '.' 285463.0 1487.0 92070.0 10296.0 57654.0
54729.0 152877.0 7884.0 92305.0 10460.0 2261.0 3954.0 7468.0 677770.0
7469.0 100126332.0 401115.0 339983.0 353497.0 79441.0 10608.0 100616358.0
57732.0 402160.0 6047.0 8603.0 79155.0 6452.0 118.0 10227.0 317648.0
8602.0 2868.0 100750326.0 3064.0 345222.0 6002.0 3083.0 285489.0 4043.0
285492.0 100133461.0 152.0 348926.0 133060.0 85013.0 55646.0 166793.0
27065.0 53407.0 '.' 100507266.0 109623454.0 '.' '.' 4487.0 '.' 54360.0
55351.0 10141.0 132884.0 2121.0 1400.0 100616201.0 389197.0 152789.0 '.'
285484.0 7466.0 5522.0 23324.0 93621.0 105374366.0 93622.0 339988.0
6286.0 114932.0 55330.0 9778.0 57533.0 '.' 257236.0 93624.0 80273.0
730971.0 57537.0 100616471.0 768239.0 100422826.0 84740.0 60312.0 '.'
84448.0 407052.0 54436.0 94031.0 105374374.0 8310.0 152992.0 27201.0
8532.0 '.' 3166.0 100287045.0 100287144.0 100287178.0 100287205.0
100287238.0 100288520.0 100287327.0 100287364.0 100287404.0 100287441.0
100287478.0 100287513.0 728369.0 728373.0 728379.0 728386.0 728393.0
728400.0 728405.0 391627.0 728419.0 391622.0 '.' 7367.0 '.' 653082.0 '.'
'.' 100500825.0 101929495.0 1070.0 '.' 153364.0 10622.0 116068.0 84059.0
100505994.0 57561.0 100129716.0 '.' 56940.0 '.' 3136.0 80868.0 '.' '.'
27241.0 '.' '.' '.' 135892.0 8468.0 8326.0 9031.0 9275.0 26608.0 51085.0
155382.0 84277.0 114049.0 6804.0 100422948.0 171022.0 83451.0 1365.0
1364.0 155368.0 135886.0 2006.0 107986809.0 3984.0 7458.0 693175.0 7462.0
5982.0 7461.0 9569.0 113218504.0 2969.0 101926943.0 '.' 100128890.0
641517.0 401447.0 645402.0 100131980.0 100289462.0 55894.0 10407.0
503618.0 503841.0 504180.0 503614.0 100131608.0 441317.0 645558.0
645572.0 645651.0 441326.0 441323.0 441324.0 728746.0 728753.0 441327.0
441328.0 100133251.0 245910.0 245908.0 245909.0 140596.0 653423.0
414325.0 1673.0 '.' 100128890.0 641517.0 401447.0 645402.0 100131980.0
100289462.0 55894.0 10407.0 503618.0 503841.0 504180.0 503614.0
100131608.0 441317.0 645558.0 645572.0 645651.0 441326.0 441323.0
441324.0 728746.0 728753.0 441327.0 441328.0 100133251.0 245910.0
245908.0 245909.0 140596.0 653423.0 414325.0 1673.0 '.' 6224.0 26795.0
105375847.0 4342.0 5324.0 79145.0 '.' 83696.0 '.' 8242.0 23096.0 8243.0
102465516.0 158787.0 3028.0 10075.0 407054.0 406889.0]' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' 8.0 8.0 8.0 9.0 9.0 8.0 8.0 8.0 '.' '.' 9.0 '.' '.' '.' '.' 5.0
5.0 7.0 4.0 4.0 4.0 4.0 '.' '.' 6.0 6.0 8.0 '.' 8.0 '.' '.' 8.0 '.' '.'
'.' 8.0 '.' '.' '.' '.' '.' 9.0 '.' '.' '.' 9.0 9.0 '.' '.' '.' '.' '.'
'.' '.' 8.0 8.0 '.' 8.0 '.' '.' '.' 8.0 '.' '.' '.' '.' '.' 9.0 '.' '.'
'.' 9.0 9.0 '.' 4.0 4.0 9.0 '.' '.' 9.0 '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' 1.0 3.0 9.0 4.0 '.' '.' '.' '.' 1.0 '.' 7.0 9.0 7.0 '.' 7.0
7.0 7.0 9.0 9.0 '.' 9.0 '.' 9.0 0.0 0.0 '.' '.' '.' '.' '.' '.' 0.0 9.0
6.0 '.' '.' '.' 4.0 '.' '.' 6.0 9.0 '.' 3.0 5.0 0.0 4.0 9.0 '.' '.' 3.0
1.0 '.' '.' '.' 7.0 2.0 5.0 '.' 5.0 8.0 '.' 4.0 4.0 '.' 0.0 '.' '.' 5.0
'.' 2.0 '.' 1.0 '.' '.' '.' 1.0 '.' 7.0 7.0 '.' '.' '.' '.' 7.0 '.' '.'
'.' 4.0 0.0 2.0 0.0 '.' '.' 2.0 8.0 4.0 3.0 '.' 5.0 9.0 4.0 '.' '.' 6.0
6.0 '.' '.' '.' '.' 0.0 '.' 4.0 '.' 9.0 '.' 7.0 4.0 '.' 1.0 '.' '.' 0.0
'.' '.' '.' 1.0 '.' '.' '.' 1.0 '.' '.' '.' 5.0 5.0 6.0 '.' '.' 6.0 0.0
6.0 '.' '.' 7.0 7.0 '.' '.' 9.0 5.0 '.' '.' 6.0 '.' '.' 9.0 '.' 1.0 '.'
2.0 1.0 6.0 3.0 8.0 6.0 3.0 4.0 '.' '.' 9.0 '.' '.' 1.0 '.' 2.0 7.0 3.0
6.0 4.0 8.0 3.0 3.0 3.0 '.' '.' 2.0 '.' '.' 2.0 7.0 6.0 2.0 '.' 2.0 '.'
2.0 0.0 3.0 6.0 1.0 7.0 '.' 2.0 6.0 '.' 0.0 2.0 3.0 4.0 5.0 6.0 8.0 '.'
3.0 '.' 9.0 8.0 5.0 4.0 7.0 5.0 '.' '.' '.' '.' '.' 5.0 '.' 9.0 5.0 '.'
5.0 5.0 1.0 '.' 7.0 0.0 '.' '.' 9.0 1.0 5.0 6.0 '.' '.' '.' 9.0 8.0 9.0
0.0 2.0 '.' '.' 2.0 4.0 '.' 2.0 '.' '.' '.' '.' 3.0 '.' 2.0 '.' 7.0 6.0
'.' 5.0 7.0 9.0 9.0 '.' 3.0 9.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 5.0 5.0 8.0 8.0 1.0 '.' '.'
'.' 7.0 '.' 7.0 8.0 3.0 '.' '.' 1.0 '.' 5.0 5.0 '.' '.' '.' '.' 4.0 4.0
'.' '.' 0.0 7.0 5.0 4.0 0.0 3.0 4.0 2.0 1.0 7.0 '.' 1.0 '.' '.' 5.0 4.0
9.0 '.' '.' 4.0 '.' 0.0 2.0 '.' 4.0 5.0 0.0 1.0 '.' 1.0 '.' 8.0 '.' '.'
'.' '.' 9.0 9.0 '.' 9.0 9.0 9.0 9.0 '.' 8.0 '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' 9.0 8.0 9.0 9.0 9.0 '.' 9.0 8.0 '.' '.' '.' '.' 9.0
9.0 '.' 9.0 9.0 9.0 9.0 '.' 8.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' 9.0 8.0 9.0 9.0 9.0 '.' 9.0 0.0 5.0 '.' '.' 3.0 0.0 6.0 3.0 3.0
0.0 0.0 0.0 0.0 '.' 1.0 1.0 0.0 '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' 2.6297e-08 1.72e-11 2.6297e-08 0.00065559 0.00065559 0.33439
3.8557e-06 8.2144e-07 '.' '.' 0.33439 '.' '.' '.' '.' 0.0004208
3.4063e-12 0.0004208 1.0936e-13 1.0936e-13 1.0936e-13 1.0936e-13 '.' '.'
6.4141e-05 1.3711e-29 6.4141e-05 '.' 0.35277 '.' '.'
2.2875000000000003e-19 '.' '.' '.' 0.042457 '.' '.' '.' '.' '.' 0.35277
'.' '.' '.' 3.9447e-08 5.1332e-05 '.' '.' '.' '.' '.' '.' '.' 2.3586e-12
0.35277 '.' 2.2875000000000003e-19 '.' '.' '.' 0.042457 '.' '.' '.' '.'
'.' 0.35277 '.' '.' '.' 3.9447e-08 5.1332e-05 '.' 9.914e-24 9.914e-24
0.0075995 '.' '.' 0.0075995 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
0.90958 0.08405 1.282e-06 0.29349 '.' '.' '.' '.' 0.90958 '.' 1.9845e-17
0.095789 8.7378e-07 '.' 2.3189e-05 0.31517 0.21949 0.31517 0.088586 '.'
0.12057 '.' 1.3666e-05 0.99972 0.99972 '.' '.' '.' '.' '.' '.' 1.0
9.8176e-12 5.3577e-12 '.' '.' '.' 5.1573e-06 '.' '.' 0.003861 0.0044347
'.' 0.058829 2.5101e-37 1.0 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 '.' '.' '.'
'.' 0.99544 '.' 0.0041913 '.' 0.00010257 '.' 4.0628e-08 0.0060818 '.'
0.9595 '.' '.' 0.99518 '.' '.' '.' 0.99544 '.' '.' '.' 1.0004e-06 '.' '.'
'.' 0.01013 0.01013 0.0047211 '.' '.' 0.0047211 1.0 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 '.' '.' 0.86458
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 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 '.' '.' 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 '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' 9.6905e-08 9.6905e-08 3.6787e-13 3.6787e-13 0.98715 '.' '.' '.'
0.00010528 '.' 4.5418e-05 1.7611e-10 0.30382 '.' '.' 0.98715 '.'
0.0093421 0.0093421 '.' '.' '.' '.' 4.2117e-17 4.2117e-17 '.' '.' 1.0
1.5479e-10 1.3955e-06 0.0019309 1.0 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 '.' 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
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 0.99532
0.020686 '.' '.' 0.58928 0.99532 0.034885 2.2898e-14 2.2898e-14 1.0 1.0
0.99998 1.0 '.' 0.983 0.93604 1.0 '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['.' '.' 0.00090932 1.219e-05 0.00090932 0.00015575 0.00015575 0.00029629
0.00029629 6.116e-09 '.' '.' '.' '.' '.' '.' '.' 0.0061403 1.7787e-07
0.0061403 7.0294e-05 7.0294e-05 7.0294e-05 7.0294e-05 '.' '.' 0.035999
6.2323e-17 0.035999 '.' 0.57189 '.' '.' 0.086864 '.' '.' '.' 0.57189 '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' 0.018051 '.' '.' '.' '.' '.' '.' '.'
'.' 0.57189 '.' 0.086864 '.' '.' '.' 0.57189 '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' 0.018051 '.' 9.1377e-18 9.1377e-18 0.64106 '.' '.' 0.64106
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.83315 0.64657 0.0075064
0.085455 '.' '.' '.' '.' 0.83315 '.' 3.1995e-14 0.24429 0.0023623 '.'
0.00013674 0.63692 0.63692 '.' 0.48994 '.' '.' '.' 0.62038 0.99973
0.99973 '.' '.' '.' '.' '.' '.' 1.0 7.621e-07 4.7536e-06 '.' '.' '.'
0.0010959 '.' '.' 0.0041565 0.037186 '.' 0.63354 1.2408e-26 1.0 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 '.' '.' '.' '.' 0.98784 '.' 0.17171 '.'
0.0027379 '.' '.' 0.97832 '.' 0.92856 '.' '.' 0.96209 '.' '.' '.' 0.98784
'.' '.' '.' 4.2266e-07 '.' '.' '.' 0.0042709 0.0042709 '.' '.' '.' '.'
1.0 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 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 '.' '.'
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 '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.010256 0.010256
0.043228 0.043228 0.97875 '.' '.' '.' 0.011321 '.' 0.0002801 6.4276e-05
0.77182 '.' '.' 0.97875 '.' 0.0043071 0.0043071 '.' '.' '.' '.'
6.3752e-10 6.3752e-10 '.' '.' 1.0 2.7256e-06 0.1306 '.' 1.0 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 '.' 0.51947 '.' '.' '.' '.'
4.2486e-09 '.' '.' 0.047238 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' 0.43625 0.40931 0.51947 0.039012 '.' 0.39981
0.51947 '.' '.' '.' '.' 4.2486e-09 '.' '.' 0.047238 '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 0.43625 0.40931
0.51947 0.039012 '.' 0.39981 0.82992 0.68632 '.' '.' 0.14931 0.82992
0.38798 5.7604e-06 5.7604e-06 1.0 0.99784 0.97539 0.99999 '.' 0.96626
0.88687 1.0 '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:59: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '[-1.0 '.' 1.0 '.' '.' -1.0 '.' -1.0 '.' '.' '.' '.' '.' '.' '.' '.' '.'
0.9 '.' '.' 1.0 '.' 0.0 '.' -1.0 '.' -1.0 '.' '.' -1.6 -1.0 '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' -1.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' -1.0 1.0 '.' 0.0 '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' -1.0 '.' '.' '.' '.' '.' '.' '.' 0.0
'.' '.' '.' -1.0 '.' 1.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' -1.0 '.' '.' '.' '.' '.' '.' '.' -1.0 '.' '.' -1.0 '.' '.' '.'
'.' 1.9 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' 1.0 '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 1.0 '.' -1.0 '.'
'.' '.' 1.9 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' -1.0 '.' 0.0 '.'
1.0 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' -1.0 '.' 1.0 '.' '.'
-1.6 0.9 '.' 0.0 '.' 1.45 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
-0.55 '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' -1.0 '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.'
'.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' '.' 1.0 '.' '.' '.' '.' '.'
'.' -1.0 '.' 1.0 '.' '.' '.' '.' '.' '.' '.' '.' '.']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, df.columns != sample_col] = df.loc[:, df.columns != sample_col].fillna(".")
/PROGS/EXTERN/AnnotSV/AnnotSV_dev/share/python3/variantconvert/src/variantconvert/converters/vcf_from_annotsv.py:60: FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error of pandas. Value '['NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA' 'NA'
'NA' 'NA' 'NA' 'NA']' has dtype incompatible with float64, please explicitly cast to a compatible dtype first.
df.loc[:, sample_col] = df.loc[:, sample_col].fillna("NA")
2026-04-14 12:03:36 [INFO] variantconvert finished.
================================================
FILE: share/doc/AnnotSV/Example/test1.annotated.vcf
================================================
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##INFO== 0.99, likely pathogenic [0.90;0.98], variant of uncertain significance [0.89;-0.89], likely benign [-0.90;-0.98], benign <= -0.99.">
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#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA
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;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|dgv4e203|nsv514006,1000g|DDD:2784|DDD:2806|TS40:ISCA-37469|dgv4e203|esv3587470|nsv514006;B_gain_coord=1:147929337-149801433|1:148050780-149739249|1:148867552-149768855|1:149034710-149405578|1:149036513-149244464,1:147929337-149801433|1:148050780-149739249|1:148867552-149768855|1:149034710-149405578|1:149036513-149244464|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|1:149071635-149169501_1000g|1:149151839-149203736_1000g|1:149207861-149218152_1000g|;po_B_gain_someG_coord=1:147929337-149801433_dgv4e203|1:148867552-149768855_TS40:ISCA-37469|1:149036513-149244464_nsv514006|1:149071635-149169501_esv3587467|1:149151839-149203736_esv3587470|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;HGNC_gene_ID=.,HGNC:48322;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=-167356 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;B_gain_coord=1:196724161-196912840;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=1:196748312-196757828_DDD:3701|;po_B_gain_someG_coord=1:196724161-196912840_DDD:3693|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;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;HGNC_gene_ID=.,HGNC:16980,HGNC:4888;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=-43071 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_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_coord=1:248756742-248797597_1000g;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;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;HGNC_gene_ID=.,HGNC:19573;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=-46664 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=LINC03100;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;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=.,.,.,TS40:ISCA-37470,1000g|TS40:ISCA-37470|dgv768e214;B_gain_coord=.,.,.,2:242930601-243102476,2:242930601-243102476|2:242988770-243037176|2:242988770-243037176;B_gain_AFmax=.,.,.,.,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=2:242930601-243102476_TS40:ISCA-37470|2:242988770-243037176_dgv768e214|2:243027554-243069648_dgv769e214|;po_B_gain_someG_coord=2:242869276-242871593_IMH|2:242988770-243037176_1000g|2:243027554-243069648_1000g|2:243028400-243028975_nsv514985;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=.,101927289,101927289,.,105373979;HGNC_gene_ID=.,HGNC:49793,HGNC:49793,.,HGNC:52699;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=-162532 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,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,p14.1,p14.1,p14.1;Gene_name=LINC00698|SYNPR|SYNPR-AS1|SNTN|CDHR18P|C3orf49|THOC7|THOC7-AS1|ATXN7|SCAANT1|PSMD6-AS2|PSMD6|PSMD6-AS1|PRICKLE2-AS1|LINC00994|PRICKLE2|PRICKLE2-AS2|PRICKLE2-AS3|PRICKLE2-DT|ADAMTS9|ADAMTS9-AS1|ADAMTS9-AS2|LINC02040,LINC00698,SYNPR,SYNPR-AS1,SNTN,CDHR18P,C3orf49,THOC7,THOC7-AS1,ATXN7,SCAANT1,PSMD6-AS2,PSMD6,PSMD6-AS1,PRICKLE2-AS1,LINC00994,PRICKLE2,PRICKLE2-AS2,PRICKLE2-AS3,PRICKLE2-DT,ADAMTS9,ADAMTS9-AS1,ADAMTS9-AS2,LINC02040;Closest_left=CADPS;Closest_right=MAGI1;Gene_count=23;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_189168,NR_045697,NR_033978,NM_001370528,NR_046701,NR_046702,NR_183712,NM_182920,NR_110150,NR_038264,NR_183715;Tx_version=.,1,2,1,2,1,2,4,1,1,2,1,2,1,1,1,1,1,1,1,2,1,1,1;Tx_start=.,63088363,63263983,63409271,63638350,63727499,63804974,63819545,63846320,63884074,63897187,63989697,63996226,63997639,64053639,64064036,64077911,64089145,64173219,64430932,64501329,64547021,64670545,65160613;Tx_end=.,63110738,63602600,63535727,63650888,63799313,63834312,63849481,63847495,63989138,63898059,63997919,64009170,64001938,64088807,64073039,64253849,64092034,64187237,64441746,64673676,64575760,64997143,65179178;Overlapped_tx_length=.,22375,338617,126456,12538,71814,29338,29936,1175,105064,872,8222,12944,4299,35168,9003,175938,2889,14018,10814,172347,28739,326598,18565;Overlapped_CDS_length=.,0,858,0,534,0,879,615,0,2838,0,0,1329,0,0,0,2535,0,0,0,5808,0,0,0;Overlapped_CDS_percent=.,0,100,0,100,0,100,100,0,100,0,0,100,0,0,0,100,0,0,0,100,0,0,0;Frameshift=.,.,no,.,no,.,no,no,.,no,.,.,no,.,.,.,no,.,.,.,no,.,.,.;Exon_count=.,7,6,5,5,9,7,8,2,13,1,3,9,2,3,4,8,4,4,4,40,3,6,5;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;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,UTR,5'UTR-3'UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR;Intersect_start=.,63088363,63263983,63409271,63638350,63727499,63804974,63819545,63846320,63884074,63897187,63989697,63996226,63997639,64053639,64064036,64077911,64089145,64173219,64430932,64501329,64547021,64670545,65160613;Intersect_end=.,63110738,63602600,63535727,63650888,63799313,63834312,63849481,63847495,63989138,63898059,63997919,64009170,64001938,64088807,64073039,64253849,64092034,64187237,64441746,64673676,64575760,64997143,65179178;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_inv_source=IMH;B_inv_coord=3:1200531-154949082|3:38627146-149162150;B_inv_AFmax=0.3422;po_B_gain_someG_source=3:63725720-63725786_gnomAD-SV_v2.1_DUP_3_8770|3:64533160-64535613_gnomAD-SV_v2.1_DUP_3_8779;po_B_gain_someG_coord=3:63224614-63225527_IMH|3:64533160-64535613_IMH;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...;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|neurodevelopmental_disorder,.,.,.,ciliopathy|nephronophthisis_1,.,.,.;GenCC_moi=.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,AD|AR,.,.,.,AR,.,.,.;GenCC_classification=.,.,.,.,.,.,.,.,.,Moderate|Strong|Supportive,.,.,.,.,.,.,Limited,.,.,.,Limited|Supportive,.,.,.;GenCC_pmid=.,.,.,.,.,.,.,.,.,20301317[PMID]|9288099,.,.,.,.,.,.,.,.,.,.,30609407[PMID],.,.,.;NCBI_gene_ID=.,285401,132204,.,132203,100130345,132200,80145,.,6314,100861563,100507062,9861,.,100652759,100287879,166336,.,.,101929316,56999,101929335,100507098,102724763;HGNC_gene_ID=.,HGNC:27720,HGNC:16507,.,HGNC:33706,HGNC:53742,HGNC:25190,HGNC:29874,.,HGNC:10560,HGNC:43718,HGNC:44125,HGNC:9564,.,HGNC:40916,HGNC:48949,HGNC:20340,.,.,HGNC:52829,HGNC:13202,HGNC:40625,HGNC:42435,HGNC:52880;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_(23_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,full=5,full=5,full=5;END=65268743;SVLEN=-2329526 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=5;P_snvindel_phen=ARL6-related_disorder|Bardet-Biedl_syndrome_1|Bardet-Biedl_syndrome_3|Retinal_dystrophy|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=.,Strong|Supportive;GenCC_pmid=.,15258860|15314642|19858128|19956407|20142850|20301537[PMID]|20301590[PMID]|20333246|21282186|22085962|22334370|250666|26355662|26489029|27124789|27486776|28130426|28502102|31736247;NCBI_gene_ID=.,84100;HGNC_gene_ID=.,HGNC:13210;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=-4041 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;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)|ARL6IP1_(morbid/RE=mTL_miRNA)|ATP6V1B2_(morbid/RE=mTL_miRNA)|BICD2_(morbid/RE=mTL_miRNA)|BLOC1S6_(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)|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)|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_promoter_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+GH_promoter_enhancer)|SAMD12_(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|esv2760775|esv2763776,1000g|DDD:12519|DDD:12528|DDD:12530|TS40:ISCA-46592|dgv967e214|esv2760775|esv2763776,1000g|DDD:12519|DDD:12528|DDD:12530|TS40:ISCA-46592|dgv967e214|esv2760775|esv2763776,DDD:12519|DDD:12528|DDD:12530|TS40:ISCA-46592|esv2760775|esv2763776;B_gain_coord=3:195240825-195502119|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165,3:195240825-195502119|3:195320057-195470538|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|3:195417631-195471708|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776,3:195240825-195502119|3:195320057-195470538|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|3:195417631-195471708|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776,3:195240825-195502119|3:195320057-195470538|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|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=3:195320057-195470538_DDD:12519|3:195383143-195502119_esv2760775|3:195417631-195471708_DDD:12530|3:195417836-195445776_1000g|3:195417836-195445776_1000g|3:195428197-195442889_nsv515001|3:195452013-195457240_1000g|3:195454692-195475463_DDD:12537|3:195457142-195468593_1000g|3:195457142-195468593_dgv969e214;po_B_gain_someG_coord=3:195240825-195502119_esv2763776|3:195376589-195493533_TS40:ISCA-46592|3:195385823-195474165_DDD:12528|3:195417836-195445776_1000g|3:195417836-195445776_1000g|3:195417836-195445776_dgv967e214|3:195452013-195457240_1000g|3:195452013-195457240_dgv968e214|3:195457000-195471300_gnomAD-SV_v2.1_DUP_3_10621|3:195457142-195468593_1000g;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;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;HGNC_gene_ID=.,HGNC:53743,HGNC:32826,HGNC:23282;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=-53687 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,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,p16.3-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,p16.1,p16.1;Gene_name=ZNF595|ZNF718|ZNF876P|ZNF732|ZNF141|MIR571|ABCA11P|ZNF721|PIGG|TMEM271|LOC105374338|PDE6B|PDE6B-AS1|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|NICOL1|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|LOC128125818|JAKMIP1-DT|WFS1|PPP2R2C|MAN2B2|MRFAP1|LINC02482|MRFAP1L2|LINC02481|S100P|MRFAP1L1|BLOC1S4|KIAA0232|TBC1D14|LOC100129931|CFAP184|TADA2B|GRPEL1|LINC02447|SORCS2|MIR4798|PSAPL1|MIR4274|AFAP1-AS1|AFAP1|LOC389199|ABLIM2|MIR95|SH3TC1|HTRA3|LINC02517|ACOX3|TRMT44|GPR78|CPZ|LOC101928532|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,PDE6B-AS1,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,NICOL1,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,LOC128125818,JAKMIP1-DT,WFS1,PPP2R2C,MAN2B2,MRFAP1,LINC02482,MRFAP1L2,LINC02481,S100P,MRFAP1L1,BLOC1S4,KIAA0232,TBC1D14,LOC100129931,CFAP184,TADA2B,GRPEL1,LINC02447,SORCS2,MIR4798,PSAPL1,MIR4274,AFAP1-AS1,AFAP1,LOC389199,ABLIM2,MIR95,SH3TC1,HTRA3,LINC02517,ACOX3,TRMT44,GPR78,CPZ,LOC101928532,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=155;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,NR_183810,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_001410703,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,NM_001415001,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,NR_187901,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=.,2,6,1,3,4,1,2,4,3,2,1,4,1,4,1,2,3,1,4,4,4,4,4,5,3,4,1,1,2,1,1,1,1,3,2,1,3,4,2,3,2,3,3,1,5,1,3,4,4,2,3,1,3,4,5,2,4,2,2,1,2,2,3,2,8,2,1,2,2,4,1,1,4,1,3,2,3,2,1,4,1,1,1,1,1,3,1,3,3,1,5,3,3,1,3,2,1,1,1,4,3,2,1,3,1,3,3,3,2,2,1,3,3,4,1,3,1,2,1,1,2,1,2,1,5,5,1,3,3,5,3,1,3,3,1,1,1,1,2,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1;Tx_start=.,53214,124382,206388,264463,331602,343945,419223,433776,492998,567668,570956,619361,646693,666224,668330,675617,699620,754230,778744,843064,926247,952674,981444,980831,1005413,1065265,1107426,1108984,1160719,1189570,1203907,1205232,1243227,1283678,1340995,1396719,1641613,1694457,1717678,1723247,1795019,1813205,1873119,1976362,1984449,1988110,2043721,2061053,2073644,2230075,2249158,2251803,2271323,2420681,2470832,2538373,2743374,2819896,2845570,2932293,2937272,2939662,2965297,3047865,3076407,3250885,3287617,3443694,3465032,3505338,3578595,3675319,3768111,3943486,4190452,4237268,4269427,4291977,4388828,4420694,4477847,4543857,4666052,4763486,4846163,4861391,4922534,5016312,5053206,5526295,5564165,5712927,5822490,5925001,5961101,6027925,6066703,6202459,6271576,6322307,6576915,6642411,6672454,6675801,6689174,6695604,6709427,6717900,6784453,6911192,7032280,7042575,7045098,7060621,7099150,7194264,7312176,7432011,7461754,7755816,7760440,7940727,7967053,8007027,8201016,8271480,8321902,8368008,8442503,8582118,8594491,8747121,8868773,9172134,9212382,9217130,9221877,9226621,9236110,9245604,9250355,9255103,9259849,9264597,9269344,9326890,9331636,9336383,9341128,9345873,9350618,9355363,9360107,9364854,9369599;Tx_end=.,88096,157952,249774,299263,378657,344041,467998,492945,533989,570084,578655,664571,648989,668065,675817,682940,763877,775637,819917,926104,952444,967357,987192,998352,1020686,1107352,1126763,1116952,1202632,1202750,1212379,1242918,1246795,1333925,1381837,1400230,1686040,1714046,1723050,1746898,1810594,1857883,1983919,1976487,2010701,1988204,2045691,2070816,2243848,2243848,2263836,2251883,2420372,2464729,2517584,2734300,2758063,2842823,2931789,2936552,2952805,2965133,3042487,3076351,3245687,3258340,3441640,3451213,3503209,3534149,3592712,3679582,3770253,3957155,4228656,4249950,4291881,4323510,4420785,4543775,4483427,4712665,4666150,4789101,4852554,4865663,4990398,5021185,5502716,5529528,5710286,5816032,5894813,5925055,6020158,6202276,6071889,6235663,6304992,6474341,6625089,6644456,6675608,6677774,6692246,6698897,6711592,6719391,6885891,7034841,7047958,7044728,7059679,7069791,7105103,7744554,7312251,7436657,7461845,7780655,7941588,7942023,8160540,8007108,8242830,8308825,8325692,8442450,8478282,8591750,8621479,8749448,8873565,9178456,9213975,9218723,9223470,9228214,9237772,9247197,9251948,9256696,9261442,9266190,9270937,9328483,9333229,9337976,9342721,9347466,9352211,9356956,9361700,9366447,9370796;Overlapped_tx_length=.,16544,33570,43386,34800,47055,96,48775,59169,40991,2416,7699,45210,2296,1841,7487,7323,64257,21407,41173,83040,26197,14683,5748,17521,15273,42087,19337,7968,41913,13180,8472,37686,3568,50247,40842,3511,44427,19589,5372,23651,15575,44678,110800,125,26252,94,1970,9763,170204,13773,14678,80,149049,44048,46752,195927,14689,22927,86219,4259,15533,25471,77190,28486,169280,7455,154023,7519,38177,28811,14117,4263,2142,13669,38204,12682,22454,31533,31957,123081,5580,168808,98,25615,6391,4272,67864,4873,449510,3233,146121,103105,72323,54,59057,174351,5186,33204,33416,152034,48174,2045,3154,1973,3072,3293,2165,1491,101438,123649,15678,2153,14581,9170,5953,550290,75,4646,91,24839,181148,1296,193487,81,41814,37345,3790,74442,35779,9632,26988,2327,4792,6322,1593,1593,1593,1593,1662,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1197;Overlapped_CDS_length=.,1709,1239,0,1758,1425,0,0,2772,2952,1158,0,2565,0,210,522,1683,729,0,405,3936,1515,2829,2106,1962,1515,894,0,0,996,0,0,1326,0,1191,2130,1347,1197,813,1089,2517,2427,2220,4098,0,1587,0,288,909,2703,1812,630,0,2664,1941,573,4548,1290,1857,2400,1443,0,2574,1737,0,9429,837,4344,1989,1827,1074,0,0,1389,0,1839,498,1140,2298,585,1008,0,0,0,0,0,912,0,411,1245,0,3927,2979,2061,0,4527,2496,138,0,2673,1344,3030,384,0,360,0,288,384,654,4188,2082,0,1668,1263,654,0,3480,0,1566,0,0,2445,0,1938,0,4011,1362,0,2103,2274,1092,1959,0,1047,1395,1593,1593,1593,1593,1662,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,0,1593,0;Overlapped_CDS_percent=.,92,100,0,100,100,0,0,100,100,83,0,100,0,100,100,100,100,0,100,100,100,100,100,100,100,100,0,0,100,0,0,100,0,100,100,100,100,100,100,100,100,100,100,0,100,0,100,100,100,100,100,0,100,100,100,100,100,100,100,100,0,100,100,0,100,100,100,100,100,100,0,0,72,0,100,100,100,100,100,100,0,0,0,0,0,100,0,100,100,0,100,100,100,0,100,100,100,0,100,100,100,96,0,19,0,100,61,44,100,100,0,96,100,100,0,100,0,96,0,0,100,0,100,0,100,100,0,100,100,100,100,0,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,0,100,0;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,.;Exon_count=.,8,6,2,4,4,1,3,3,13,1,3,22,3,4,9,10,12,3,4,28,11,23,3,14,7,10,3,4,8,4,6,9,2,9,14,2,5,8,4,16,18,14,22,1,11,1,4,3,26,6,6,1,13,16,8,21,6,13,16,12,4,18,16,4,67,3,18,15,10,8,3,3,1,4,6,5,10,8,6,11,4,6,1,3,4,2,3,4,12,4,22,21,14,1,12,21,2,4,8,9,19,3,2,1,3,2,2,1,9,14,4,1,2,4,2,27,1,1,1,2,18,1,21,1,18,9,4,18,11,3,11,3,2,7,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1;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,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,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,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,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=.,71552,124382,206388,264463,331602,343945,419223,433776,492998,567668,570956,619361,646693,666224,668330,675617,699620,754230,778744,843064,926247,952674,981444,980831,1005413,1065265,1107426,1108984,1160719,1189570,1203907,1205232,1243227,1283678,1340995,1396719,1641613,1694457,1717678,1723247,1795019,1813205,1873119,1976362,1984449,1988110,2043721,2061053,2073644,2230075,2249158,2251803,2271323,2420681,2470832,2538373,2743374,2819896,2845570,2932293,2937272,2939662,2965297,3047865,3076407,3250885,3287617,3443694,3465032,3505338,3578595,3675319,3768111,3943486,4190452,4237268,4269427,4291977,4388828,4420694,4477847,4543857,4666052,4763486,4846163,4861391,4922534,5016312,5053206,5526295,5564165,5712927,5822490,5925001,5961101,6027925,6066703,6202459,6271576,6322307,6576915,6642411,6672454,6675801,6689174,6695604,6709427,6717900,6784453,6911192,7032280,7042575,7045098,7060621,7099150,7194264,7312176,7432011,7461754,7755816,7760440,7940727,7967053,8007027,8201016,8271480,8321902,8368008,8442503,8582118,8594491,8747121,8868773,9172134,9212382,9217130,9221877,9226621,9236110,9245604,9250355,9255103,9259849,9264597,9269344,9326890,9331636,9336383,9341128,9345873,9350618,9355363,9360107,9364854,9369599;Intersect_end=.,88096,157952,249774,299263,378657,344041,467998,492945,533989,570084,578655,664571,648989,668065,675817,682940,763877,775637,819917,926104,952444,967357,987192,998352,1020686,1107352,1126763,1116952,1202632,1202750,1212379,1242918,1246795,1333925,1381837,1400230,1686040,1714046,1723050,1746898,1810594,1857883,1983919,1976487,2010701,1988204,2045691,2070816,2243848,2243848,2263836,2251883,2420372,2464729,2517584,2734300,2758063,2842823,2931789,2936552,2952805,2965133,3042487,3076351,3245687,3258340,3441640,3451213,3503209,3534149,3592712,3679582,3770253,3957155,4228656,4249950,4291881,4323510,4420785,4543775,4483427,4712665,4666150,4789101,4852554,4865663,4990398,5021185,5502716,5529528,5710286,5816032,5894813,5925055,6020158,6202276,6071889,6235663,6304992,6474341,6625089,6644456,6675608,6677774,6692246,6698897,6711592,6719391,6885891,7034841,7047958,7044728,7059679,7069791,7105103,7744554,7312251,7436657,7461845,7780655,7941588,7942023,8160540,8007108,8242830,8308825,8325692,8442450,8478282,8591750,8621479,8749448,8873565,9178456,9213975,9218723,9223470,9228214,9237772,9247197,9251948,9256696,9261442,9266190,9270937,9328483,9333229,9337976,9342721,9347466,9352211,9356956,9361700,9366447,9370796;RE_gene=ACACA_(morbid/RE=mTL_miRNA)|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)|ARL6IP1_(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)|FBXO22_(morbid/RE=mTL_miRNA)|FICD_(morbid/RE=mTL_miRNA)|FLCN_(HI=3/morbid/RE=mTL_miRNA)|FLVCR1_(morbid/RE=mTL_miRNA)|FOXC1_(HI=3/morbid/RE=mTL_miRNA)|FOXP2_(HI=3/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)...;P_gain_phen=Retinitis_pigmentosa_40|Retinitis_pigmentosa|Retinitis_pigmentosa_40,.,.,.,.,.,.,.,.,.,.,.,Retinitis_pigmentosa_40|Retinitis_pigmentosa|Retinitis_pigmentosa_40,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_hpo=HP:0000547,.,.,.,.,.,.,.,.,.,.,.,HP:0000547,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_source=CLN:28147|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:28147|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|4:619584-619655|4:619590-619662|4:72448-3848881|4:72448-5608810|4:85041-4597934|4:963689-2913553,.,.,.,.,.,.,.,.,.,.,.,4:619584-619584|4:619584-619655|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)_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|Cherubism,_118400_(3)_AD|Congenital_disorder_of_glycosylation_type_1EE_with_or_without_immunodeficiency,_621140_(3)_AR|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|Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|Fetal_akinesia_deformation_sequence_3,_618389_(3)_AR|Myasthenic_syndrome,_congenital,_10,_254300_(3)_AR|Fetal_akinesia_deformation_sequence_1|Congenital_myasthenic_syndrome_10|Fetal_akinesia_deformation_sequence_3|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)_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,.,.,.,.,.,.,.,.,.,.,.,.,.,.,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|Fetal_akinesia_deformation_sequence_1|Congenital_myasthenic_syndrome_10|Fetal_akinesia_deformation_sequence_3,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|Ellis-van_Creveld_syndrome|Curry-Hall_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,.,Congenital_disorder_of_glycosylation_type_1EE_with_or_without_immunodeficiency,_621140_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Oculoauricular_syndrome,_612109_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_hpo=HP:0001989,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,HP:0001989,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_source=CLN:1313135|CLN:2672009|CLN:2834164|CLN:3496433|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:MAN2B2|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,dbVar:nssv17171376,.,.,.,.,.,morbid:CPLX1,.,.,.,.,CLN:2672009|CLN:961843|dbVar:nssv16216714|dbVar:nssv18830727|morbid:IDUA,.,morbid:RNF212,.,.,.,.,.,.,.,.,morbid:UVSSA,.,.,.,.,.,morbid:FGFR3,morbid:LETM1,HI3:NSD2|morbid:NSD2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,morbid:SH3BP2,.,.,.,.,.,.,morbid:HTT,.,.,.,CLN:2834164|CLN:3496433|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:MAN2B2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,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|4:1873121-1983919|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|4:3478201-3482971|4:3478271-3491403|4:3486271-3496209|4:3487104-3487370|4:3487247-3495248|4:3487257-3487395|4:3487257-3495238|4:3494467-3495228|4:3494950-3495048|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|4:6576916-6625089|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|4:660321-661795,4:647642-648677,.,.,.,.,.,4:778745-819917,.,.,.,.,4:990308-992083|4:990309-992082|4:993498-998345|4:996510-998192|4:996511-998191,.,4:1087097-1107352,.,.,.,.,.,.,.,.,4:1340996-1381837,.,.,.,.,.,4:1795020-1810594,4:1813206-1857883,4:1873121-1983919|4:1902353-1950545,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:2820541-2842823,.,.,.,.,.,.,4:3076408-3245687,.,.,.,4:3465094-3495238|4:3465104-3465298|4:3475114-3491543|4:3478201-3482971|4:3478271-3491403|4:3486271-3496209|4:3487104-3487370|4:3487247-3495248|4:3487257-3487395|4:3487257-3495238|4:3494467-3495228|4:3494950-3495048|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,.,4:6576916-6625089,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,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=1051,.,.,.,.,.,.,.,.,61,.,.,96,12,.,.,.,.,.,1,.,.,.,21,213,.,.,.,.,.,.,1,1,.,.,2,.,.,.,.,.,39,.,32,.,.,.,.,.,.,.,.,.,.,.,.,.,.,8,.,.,.,.,.,.,4,.,.,.,76,2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,199,161,.,.,.,1,.,.,142,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_snvindel_phen=4p_partial_monosomy_syndrome|Abnormality_of_the_nervous_system|Achondroplasia|Autosomal_dominant_nonsyndromic_hearing_loss|Autosomal_dominant_nonsyndromic_hearing_loss_6|Autosomal_recessive_retinitis_pigmentosa|BLOOD_GROUP,_EMM_SYSTEM|Bell-shaped_thorax|Bowed_humerus|Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome|Carcinoma_of_colon|Cataract_41|Cervical_cancer|Colorectal_cancer|Cone-rod_dystrophy|Congenital_Stationary_Night_Blindness,_Dominant|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_disorder|Developmental_and_epileptic_encephalopathy,_63|Diabetes_mellitus|Disproportionate_short-limb_short_stature|EVC-related_disorder|EVC2-related_disorder|Ellis-van_Creveld_syndrome|Emm-null_phenotype|Epidermal_nevus|FGFR3-related_chondrodysplasia|FGFR3-related_disorder|Facial_asymmetry|Familial_hypokalemia-hypomagnesemia|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|Huntington_disease|Hurler_syndrome|Hypochondroplasia|Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome|Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome|IDUA-related_core_myopathy|IDUA-related_disorder|Inborn_genetic_diseases|Infantile_axial_hypotonia|Intellectual_disability,_autosomal_recessive_53|Interstitial_pneumonitis|Isolated_microphthalmia_6|Jeune_thoracic_dystrophy|LADD_syndrome_1|Lacrimoauriculodentodigital_syndrome_2|Larsen_syndrome|Leber_congenital_amaurosis|Lethal_short-limbed_short_stature|Levy-Hollister_syndrome|Lower_limb_undergrowth|MSX1-related_disorder|Malignant_tumor_of_testis|Malignant_tumor_of_urinary_bladder|Meniere_disease|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis,_MPS-IV-A|Mucopolysaccharidosis_type_1|Muenke_syndrome|Multiple_myeloma|Myopia_23,_autosomal_recessive|NSD2-related_disorder|Narrow_chest|Neurodevelopmental_delay|Nonsyndromic_genetic_hearing_loss|Optic_atrophy|PDE6B-related_disorder|PIGG-related_disorder|Rare_genetic_deafness|Rauch-Steindl_syndrome|Retinal_dystrophy|Retinitis_pigmentosa|Retinitis_pigmentosa_40|Rett_syndrome|SH3BP2-related_disorder|Saethre-Chotzen_syndrome|Seborrheic_keratosis|See_cases|Seizure|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|Smith-Magenis_Syndrome-like|Spermatocytic_seminoma|Squamous_cell_lung_carcinoma|Syndromic_intellectual_disability|Thanatophoric_dysplasia|Thanatophoric_dysplasia,_type_2|Thanatophoric_dysplasia_type_1|Tooth_agenesis,_selective,_1|Type_2_diabetes_mellitus|Type_IV_short_rib_polydactyly_syndrome|Tyrosinase-positive_oculocutaneous_albinism|Unilateral_renal_agenesis|Upper_limb_undergrowth|WFS1-Related_Spectrum_Disorders|WFS1-related_disorder|WFS1-spectrum_disorder|Wolf-Hirschhorn_like_syndrome|Wolfram-like_syndrome|Wolfram_syndrome|Wolfram_syndrome_1|not_specified,.,.,.,.,.,.,.,.,BLOOD_GROUP,_EMM_SYSTEM|Emm-null_phenotype|Inborn_genetic_diseases|Intellectual_disability,_autosomal_recessive_53|PIGG-related_disorder,.,.,Autosomal_recessive_retinitis_pigmentosa|Cone-rod_dystrophy|Congenital_Stationary_Night_Blindness,_Dominant|Congenital_stationary_night_blindness_autosomal_dominant_2|Leber_congenital_amaurosis|PDE6B-related_disorder|Retinal_dystrophy|Retinitis_pigmentosa|Retinitis_pigmentosa_40|See_cases|Tyrosinase-positive_oculocutaneous_albinism,Autosomal_recessive_retinitis_pigmentosa|Congenital_stationary_night_blindness_autosomal_dominant_2|Leber_congenital_amaurosis|Retinal_dystrophy|Retinitis_pigmentosa|Retinitis_pigmentosa_40|See_cases,.,.,.,.,.,Developmental_and_epileptic_encephalopathy,_63,.,.,.,Hurler_syndrome|IDUA-related_disorder|Interstitial_pneumonitis|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis_type_1|See_cases,Familial_hypokalemia-hypomagnesemia|Hurler_syndrome|IDUA-related_core_myopathy|IDUA-related_disorder|Inborn_genetic_diseases|Interstitial_pneumonitis|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis,_MPS-IV-A|Mucopolysaccharidosis_type_1|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|Achondroplasia|Bell-shaped_thorax|Bowed_humerus|Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome|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_chondrodysplasia|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|LADD_syndrome_1|Lacrimoauriculodentodigital_syndrome_2|Larsen_syndrome|Lethal_short-limbed_short_stature|Levy-Hollister_syndrome|Lower_limb_undergrowth|Malignant_tumor_of_testis|Malignant_tumor_of_urinary_bladder|Muenke_syndrome|Multiple_myeloma|Narrow_chest|Neurodevelopmental_delay|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_lung_carcinoma|Thanatophoric_dysplasia|Thanatophoric_dysplasia,_type_2|Thanatophoric_dysplasia_type_1|Unilateral_renal_agenesis|Upper_limb_undergrowth|not_specified,.,4p_partial_monosomy_syndrome|Global_developmental_delay|Inborn_genetic_diseases|NSD2-related_disorder|Neurodevelopmental_delay|Rauch-Steindl_syndrome|Syndromic_intellectual_disability|Wolf-Hirschhorn_like_syndrome,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Fibrous_dysplasia_of_jaw|SH3BP2-related_disorder,.,.,.,.,.,.,Huntington_disease,.,.,.,Congenital_myasthenic_syndrome|Congenital_myasthenic_syndrome_10|DOK7-related_disorder|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_disorder|Tooth_agenesis,_selective,_1,.,.,.,.,Curry-Hall_syndrome|EVC2-related_disorder|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_disorder|Ellis-van_Creveld_syndrome|Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly,.,.,.,Smith-Magenis_Syndrome-like,.,.,Autosomal_dominant_nonsyndromic_hearing_loss|Autosomal_dominant_nonsyndromic_hearing_loss_6|Cataract_41|Diabetes_mellitus|Inborn_genetic_diseases|Meniere_disease|Nonsyndromic_genetic_hearing_loss|Optic_atrophy|Rare_genetic_deafness|Retinal_dystrophy|See_cases|Type_2_diabetes_mellitus|WFS1-Related_Spectrum_Disorders|WFS1-related_disorder|WFS1-spectrum_disorder|Wolfram-like_syndrome|Wolfram_syndrome|Wolfram_syndrome_1|not_specified,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Isolated_microphthalmia_6,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;B_gain_source=.,esv2763806,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,DDD:12912|IMH|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|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|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|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|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|gnomAD-SV_v2.1_DUP_4_11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.,.,.,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|27210743,11735025|21394825|21480867|22976768|23917744|8680403[PMID],.,25342176|31125047,.,.,.,.,.,12101226|26480814|27094857|28408745|28955726|30356033|31041561|32075774|36341169|9524128,.,.,22466610|22466610[PMID]_22466611[PMID]_22466612[PMID],.,.,.,.,.,10053006|10053006[PMID]_18076102[PMID]|10671061|10696568|10914960[PMID]|11406607|11467490|15909185|16441300|16501574|16501574[PMID]|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|7670477|7773297|7847369|7913883|8078586|8630492|8640234|8845844|8880573|8880574|9042914|9279753|9300656|9450868|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|15264286|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]|17024374|23220543|23220543[PMID]_22791528[PMID]_19744229[PMID]_18947413[PMID]|26748586|29321360|30076350|7628126,.,.,.,.,.,.,11709537|11709538|12073007|12754709|12955714|16151413|16648378|16806192|16806192[PMID]_12913071[PMID]|17492394|18544103|20069065|20069065[PMID]_20301750[PMID]|20301607[PMID]_24148127[PMID]|21446023|21538838|21602428|222300|23531866|23531866[PMID]|243330|248846|251462|25250959|27395765|28802351|29529044|31313226|31555371|34014271|35018440|606201,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,18423520|18423520[PMID]_25574057[PMID]|19379485|25574057|29140751,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,152687,255403,642280,654254,7700,693156,79963,170960,54872,112441426,.,5158,101928521,521,4636,84179,10336,100129917,10815,2580,84286,1609,10861,3425,53834,285498,.,.,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,.,100507266,109623454,.,.,4487,.,54360,55351,10141,132884,2121,1400,100616201,389197,152789,.,285484,7466,5522,23324,93621,105374366,93622,339988,6286,114932,55330,9778,57533,.,257236,93624,80273,730971,57537,100616471,768239,100422826,84740,60312,.,84448,407052,54436,94031,105374374,8310,152992,27201,8532,.,3166,100287045,100287144,100287178,100287205,100287238,100288520,100287327,100287364,100287404,100287441,100287478,100287513,728369,728373,728379,728386,728393,728400,728405,391627,728419,391622;HGNC_gene_ID=.,HGNC:27196,HGNC:26889,HGNC:32472,HGNC:37138,HGNC:12926,HGNC:32827,HGNC:31,HGNC:29425,HGNC:25985,HGNC:53639,.,HGNC:8786,HGNC:40438,HGNC:846,HGNC:7586,HGNC:26177,HGNC:10066,HGNC:56108,HGNC:2309,HGNC:4113,HGNC:28709,HGNC:2856,HGNC:10993,HGNC:5391,HGNC:3693,HGNC:27729,.,.,HGNC:11253,.,HGNC:48337,HGNC:2494,HGNC:28307,HGNC:13731,HGNC:29304,HGNC:24975,HGNC:31860,HGNC:10904,HGNC:25137,HGNC:11524,HGNC:3690,HGNC:6556,HGNC:12766,HGNC:32580,HGNC:12768,HGNC:33689,HGNC:34437,HGNC:26742,HGNC:18870,HGNC:28719,HGNC:13906,HGNC:41877,HGNC:29334,HGNC:51180,HGNC:10067,HGNC:16822,HGNC:19118,HGNC:10825,HGNC:243,HGNC:16894,HGNC:20205,HGNC:16821,HGNC:4543,HGNC:37118,HGNC:4851,HGNC:33741,HGNC:9994,HGNC:4894,HGNC:26594,HGNC:6701,HGNC:26644,HGNC:53033,HGNC:283,HGNC:28017,HGNC:19656,HGNC:28201,HGNC:26021,HGNC:19883,HGNC:18790,HGNC:15942,.,HGNC:48877,HGNC:51876,.,.,HGNC:7391,.,HGNC:24435,HGNC:14217,HGNC:13716,HGNC:19747,HGNC:3497,HGNC:2365,HGNC:41550,HGNC:33766,HGNC:26460,.,HGNC:27728,HGNC:12762,HGNC:9306,HGNC:29623,HGNC:24549,HGNC:53458,HGNC:25109,HGNC:27958,HGNC:10504,HGNC:28796,HGNC:24206,HGNC:28992,HGNC:29246,.,HGNC:26900,HGNC:30781,HGNC:19696,HGNC:53379,HGNC:16698,HGNC:41616,HGNC:33131,HGNC:38194,HGNC:28141,HGNC:24017,.,HGNC:19195,HGNC:31647,HGNC:26009,HGNC:30406,HGNC:53506,HGNC:121,HGNC:26653,HGNC:4528,HGNC:2333,.,HGNC:5017,HGNC:43746,HGNC:44438,HGNC:44439,HGNC:44440,HGNC:44441,HGNC:44443,HGNC:44445,HGNC:44446,HGNC:44447,HGNC:44448,HGNC:44449,HGNC:44450,HGNC:44453,HGNC:44452,HGNC:44454,HGNC:37177,HGNC:44455,HGNC:44456,HGNC:44457,HGNC:12615,HGNC:44458,HGNC:37179;OMIM_ID=194648|616918|180072|605032|610130|252800|612041|602618|614632|134934|604407|602952|610647|602104|102680|613004|610285|104225|142983|607261|604831|606201|618899|142992,.,.,.,.,194648,.,.,.,616918,.,.,180072,.,.,.,.,.,.,605032,.,.,.,610130,252800,.,612041,.,.,.,.,.,602618,.,.,614632,.,.,.,.,.,134934,604407,602952,.,.,.,.,610647,.,.,.,.,.,.,.,.,.,602104,102680,.,.,.,.,.,613004,.,.,.,610285,104225,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,142983,.,.,.,.,607261,604831,.,.,.,.,.,.,606201,.,618899,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,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,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,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,.,Congenital_disorder_of_glycosylation_type_1EE_with_or_without_immunodeficiency,_621140_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,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,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,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,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;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,.,.,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,.,.,2,4,.,2,.,.,.,.,3,.,2,.,7,6,.,5,7,9,9,.,3,9,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;GnomAD_pLI=1,0.3055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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|dgv1490e212|dgv5262n100|dgv5264n100;B_gain_coord=4:69360477-69485827|4:69364694-69524016|4:69371992-69489323|4:69371992-69540013;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|4:69371992-69489323_dgv5262n100|4:69435890-69485966_dgv1493e212|;po_B_gain_someG_coord=4:69360477-69485827_dgv1490e212|4:69366026-69430178_DDD:14000|4:69371992-69540013_dgv5264n100|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;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;HGNC_gene_ID=.,HGNC:12547;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=-69893 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|dgv131e203;B_gain_coord=5:653582-875018|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=5:686604-840273_DDD:16279|5:714989-733938_1000g|5:714989-733938_1000g|5:717638-748444_DDD:16285|5:757677-778933_1000g|5:757677-778933_1000g|5:763398-838450_DDD:16291;po_B_gain_someG_coord=5:653582-875018_dgv131e203|5:708603-865477_DDD:16284|5:714989-733938_1000g|5:714989-733938_dgv1061e214|5:754104-754760_IMH|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;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;HGNC_gene_ID=.,HGNC:32962;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)|4O_(cf_po_B_gain_AllG_source,_B_gain_source,_po_B_gain_SomeG_source,_+0.00)|5F_(+0.00);ACMG_class=3,full=3;END=777000;SVLEN=53806 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,split;CytoBand=q14.3;Gene_name=LOC102724637|MIR3660|LINC01339|CETN3|LOC731157|MBLAC2|POLR3G|LYSMD3|ADGRV1|LUCAT1|ARRDC3|ARRDC3-AS1,LOC102724637,MIR3660,LINC01339,CETN3,LOC731157,MBLAC2,POLR3G,LYSMD3,ADGRV1,LUCAT1,ARRDC3,ARRDC3-AS1;Closest_left=MEF2C-AS1;Closest_right=LOC105379082;Gene_count=12;Tx=.,NR_188242,NR_037433,NR_120601,NM_001297765,NR_105024,NM_203406,NM_001370354,NM_198273,NM_032119,NR_103548,NM_020801,NR_027435;Tx_version=.,1,1,1,2,1,2,1,2,4,1,4,1;Tx_start=.,89198108,89312437,89454155,89688073,89705816,89754025,89769745,89811442,89854613,90598802,90664447,90676163;Tx_end=.,89269817,89312537,89585888,89705573,89706486,89770588,89810374,89825401,90460254,90610219,90679134,90716532;Overlapped_tx_length=.,71709,100,131733,17500,670,16563,40629,13959,605641,11417,14687,40369;Overlapped_CDS_length=.,0,0,0,576,0,840,672,921,18921,0,1245,0;Overlapped_CDS_percent=.,0,0,0,100,0,100,100,100,100,0,100,0;Frameshift=.,.,.,.,no,.,no,no,no,no,.,no,.;Exon_count=.,6,1,6,6,2,2,8,3,90,5,8,3;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,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=.,89198108,89312437,89454155,89688073,89705816,89754025,89769745,89811442,89854613,90598802,90664447,90676163;Intersect_end=.,89269817,89312537,89585888,89705573,89706486,89770588,89810374,89825401,90460254,90610219,90679134,90716532;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+GH_promoter)|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|CLN:3786833|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,.,.,.,.,.,.,.,.,CLN:3786833|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|5:90261287-90261361|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|5:90261287-90261361|5:90368245-90398177|5:90368250-90459732,.,.,.;P_ins_source=CLN:1393621|CLN:1447486|CLN:3819107|dbVar:nssv17971430|dbVar:nssv17974885,.,.,.,.,.,.,.,.,CLN:1393621|CLN:1447486|CLN:3819107|dbVar:nssv17971430|dbVar:nssv17974885,.,.,.;P_ins_coord=5:89949103-89949102|5:89949103-89949236|5:89990260-89990259|5:89990260-89990371|5:90024639-90024756,.,.,.,.,.,.,.,.,5:89949103-89949102|5:89949103-89949236|5:89990260-89990259|5:89990260-89990371|5:90024639-90024756,.,.,.;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=435,.,.,.,.,.,.,.,.,435,.,.,.;P_snvindel_phen=ADGRV1-related_disorder|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_2A|Usher_syndrome_type_2C,.,.,.,.,.,.,.,.,ADGRV1-related_disorder|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_2A|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=5:89788663-89788952_IMH|5:90866987-90867072_gnomAD-SV_v2.1_DUP_5_15730;po_B_gain_someG_coord=5:89264627-89264683_gnomAD-SV_v2.1_DUP_5_15710|5:89860422-89860742_1000g;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...;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;HGNC_gene_ID=.,.,HGNC:38985,HGNC:50549,HGNC:1868,.,HGNC:33711,HGNC:30075,HGNC:26969,HGNC:17416,HGNC:48498,HGNC:29263,HGNC:44145;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_(12_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;END=91802402;SVLEN=-3028074 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=LINC03066;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)|IRF4_(morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer+GH_promoter_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|dgv140e203|nsv514340;B_gain_coord=6:230528-373346|6:236002-373603|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|6:256503-293373_dgv1157e214|6:257354-293393_DDD:19561|6:257354-382897_dgv140e203|6:294125-385771_dgv1705e212|6:305182-340601_1000g|6:305182-340601_dgv1158e214|6:327587-368712_1000g|6:344136-379149_DDD:19570;po_B_gain_someG_coord=6:230528-373346_DDD:19553|6:253364-294911_dgv1694e212|6:256503-293373_1000g|6:257333-380527_nsv514340|6:257354-294837_esv2421434|6:259529-339802_TS40:ISCA-37471|6:298701-379015_esv2421645|6:305182-340601_1000g|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;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;HGNC_gene_ID=.,HGNC:16077;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=-96211 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;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;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|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|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|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|6:29840747-29917149_DDD:20149;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;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=.,3136,80868;HGNC_gene_ID=.,HGNC:4965,HGNC:22919;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=-41840 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|dgv768n27|nsv516597;B_gain_coord=6:78848098-79052702|6:78950789-79066065|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=6:78950789-79066065_DDD:21366|6:78973202-79031742_dgv768n27|;po_B_gain_someG_coord=6:78848098-79052702_nsv516597|6:78963972-78992918_DDD:21367|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=-44156 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=2;P_snvindel_phen=Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_9;B_inv_source=IMH;B_inv_coord=7:23891013-65526751|7:33013222-55782515;B_inv_AFmax=0.381;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|250490|251248|268436|282550;NCBI_gene_ID=.,27241;HGNC_gene_ID=.,HGNC:30000;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=-140 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;po_B_gain_someG_coord=7:38283523-38309532_DDD:23873;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=-56268 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,split;CytoBand=q11.23;Gene_name=TRIM50|FKBP6|FZD9|BAZ1B|BCL7B|TBL2|MLXIPL|VPS37D|DNAJC30|BUD23|STX1A|MIR4284|BICDL3P|ABHD11|CLDN3|CLDN4|METTL27|TMEM270|ELN|ELN-AS1|LIMK1|EIF4H|MIR590|LAT2|RFC2|CLIP2|GTF2IRD1|MIR10525|GTF2I|GTF2I-AS1,TRIM50,FKBP6,FZD9,BAZ1B,BCL7B,TBL2,MLXIPL,VPS37D,DNAJC30,BUD23,STX1A,MIR4284,BICDL3P,ABHD11,CLDN3,CLDN4,METTL27,TMEM270,ELN,ELN-AS1,LIMK1,EIF4H,MIR590,LAT2,RFC2,CLIP2,GTF2IRD1,MIR10525,GTF2I,GTF2I-AS1;Closest_left=NSUN5;Closest_right=NCF1;Gene_count=30;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,NR_183555,NM_002314,NM_022170,NR_030321,NM_014146,NM_181471,NM_003388,NM_001199207,NR_162116,NM_032999,NR_110044;Tx_version=.,3,5,3,1,2,4,3,2,3,3,4,1,1,4,4,5,3,4,2,1,4,2,1,4,3,5,2,1,4,1;Tx_start=.,72726531,72742163,72848107,72854735,72950685,72981866,73007531,73082160,73095247,73097926,73113539,73125646,73149398,73150423,73183326,73245325,73248919,73275488,73442502,73473234,73498133,73588685,73605527,73624335,73645831,73703736,73868235,74010294,74072043,74103270;Tx_end=.,72742085,72772634,72850450,72936623,72972020,72992909,73038852,73086440,73097783,73112542,73133999,73125727,73150330,73153132,73184600,73247020,73256846,73280220,73484237,73476610,73536855,73611426,73605624,73644164,73668729,73820265,74016931,74010353,74175022,74143256;Overlapped_tx_length=.,15507,30471,2343,81888,21335,11043,31321,4280,2536,14616,20460,81,932,2709,1274,1695,7927,4732,41735,3376,38722,22741,97,19829,22898,116529,148696,59,67347,36120;Overlapped_CDS_length=.,1464,984,1776,4452,642,1344,2559,756,681,897,867,0,0,921,663,630,738,798,2361,0,1944,747,0,732,1065,3141,2931,0,943,0;Overlapped_CDS_percent=.,100,100,84,100,100,100,100,100,95,100,100,0,0,100,75,42,100,100,100,0,100,100,0,100,100,100,100,0,31,0;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,.,.,no,no,no,no,no,no,.,no,no,.,no,no,no,no,.,yes,.;Exon_count=.,7,9,1,19,7,7,17,4,1,13,10,1,4,6,1,1,6,3,34,2,16,7,1,13,11,17,27,1,35,4;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-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,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=.,72726578,72742163,72848107,72854735,72950685,72981866,73007531,73082160,73095247,73097926,73113539,73125646,73149398,73150423,73183326,73245325,73248919,73275488,73442502,73473234,73498133,73588685,73605527,73624335,73645831,73703736,73868235,74010294,74072043,74103270;Intersect_end=.,72742085,72772634,72850450,72936623,72972020,72992909,73038852,73086440,73097783,73112542,73133999,73125727,73150330,73153132,73184600,73247020,73256846,73280220,73484237,73476610,73536855,73611426,73605624,73644164,73668729,73820265,74016931,74010353,74139390,74139390;RE_gene=ACOX1_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AGTPBP1_(morbid/RE=mTL_miRNA)|AHR_(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)|CIAO1_(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)...;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,.,.,.,.,.,.,.,.,.,HI3:ELN|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|7:73442504-73484237|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|7:73442504-73484237|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=127,.,1,.,.,.,.,.,.,1,.,1,.,.,.,.,.,.,.,124,18,.,.,.,.,.,.,.,.,.,.;P_snvindel_phen=Autism|Cutis_laxa,_autosomal_dominant_1|DNAJC30-associated_disorder|ELN-related_disorder|Inborn_genetic_diseases|Intellectual_disability|Leber-like_hereditary_optic_neuropathy,_autosomal_recessive_1|Leber_hereditary_optic_neuropathy,_autosomal_recessive|Leber_optic_atrophy,_susceptibility_to|Male_infertility|Optic_atrophy|Retinal_dystrophy|Spermatogenic_failure_77|Supravalvar_aortic_stenosis|Williams_syndrome,.,Male_infertility|Spermatogenic_failure_77,.,.,.,.,.,.,DNAJC30-associated_disorder|Leber-like_hereditary_optic_neuropathy,_autosomal_recessive_1|Leber_hereditary_optic_neuropathy,_autosomal_recessive|Leber_optic_atrophy,_susceptibility_to|Optic_atrophy|Retinal_dystrophy,.,Autism|Intellectual_disability,.,.,.,.,.,.,.,Cutis_laxa,_autosomal_dominant_1|ELN-related_disorder|Inborn_genetic_diseases|Supravalvar_aortic_stenosis|Williams_syndrome,Cutis_laxa,_autosomal_dominant_1|ELN-related_disorder|Supravalvar_aortic_stenosis,.,.,.,.,.,.,.,.,.,.;B_loss_source=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,.,.,.,.,dbVar,.,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.;B_loss_coord=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr7:73157999-73206000,.,.,.,.,chr7:73447215-73480401,.,chr7:73504792-73813060,chr7:73504792-73813060,chr7:73504792-73813060,chr7:73504792-73813060,.,.,.,.,.;B_loss_AFmax=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.01,.,.,.,.,0.01,.,0.01,0.01,0.01,0.01,.,.,.,.,.;B_inv_source=IMH;B_inv_coord=7:66631329-143298938|7:67635774-98083201;B_inv_AFmax=0.5;po_B_gain_someG_source=7:74110032-74113459_DDD:24519|;po_B_gain_someG_coord=7:74103674-74113108_DDD:24517|7:74111368-74111473_DDD:24520;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...;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,.,cystic_fibrosis,.,.,.,.,.,.,.,autosomal_dominant_cutis_laxa|cutis_laxa,_autosomal_dominant_1|familial_thoracic_aortic_aneurysm_and_aortic_dissection|supravalvular_aortic_stenosis,.,.,.,.,.,.,.,neurodevelopmental_disorder,.,.,.;GenCC_moi=.,.,AR,.,AD,.,.,.,.,AR|MT,.,AR,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,.,AR,.,.,.;GenCC_classification=.,.,Moderate,.,Limited,.,.,.,.,Limited|Strong|Supportive,.,Supportive,.,.,.,.,.,.,.,Definitive|Limited|Strong|Supportive,.,.,.,.,.,.,.,Limited,.,.,.;GenCC_pmid=.,.,.,.,.,.,.,.,.,33465056|33465056[PMID],.,23572023,.,.,.,.,.,.,.,10942104[PMID]_19844261[PMID]|11175284|16085695[PMID]_18348261[PMID]|18348261|19844261|21309044|23442826|27866049|28383366|31560829|8364568,.,.,.,.,.,.,.,36308390,.,.,.;NCBI_gene_ID=.,135892,8468,8326,9031,9275,26608,51085,155382,84277,114049,6804,100422948,171022,83451,1365,1364,155368,135886,2006,107986809,3984,7458,693175,7462,5982,7461,9569,113218504,2969,101926943;HGNC_gene_ID=.,HGNC:19017,HGNC:3722,HGNC:4047,HGNC:961,HGNC:1005,HGNC:11586,HGNC:12744,HGNC:18287,HGNC:16410,HGNC:16405,HGNC:11433,HGNC:38322,HGNC:18289,HGNC:16407,HGNC:2045,HGNC:2046,HGNC:19068,HGNC:23018,HGNC:3327,HGNC:40212,HGNC:6613,HGNC:12741,HGNC:32846,HGNC:12749,HGNC:9970,HGNC:2586,HGNC:4661,HGNC:54015,HGNC:4659,HGNC:55572;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_(30_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;END=74139390;SVLEN=-1412812 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=FAM90A20;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,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|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26720|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-3747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v2764098,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|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|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|8:7405950-7443050,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7085462-7537934|8:7401394-7472190|chr8:7405950-7443050|8:7405950-7443050,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7085462-7537934|8:7401394-7472190|chr8:7405950-7443050|8:7405950-7443050,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630|8:7736500-7764500|chr8:7736500-7764500|8:7736500-7764500,8:6858816-8072303|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;B_loss_AFmax=0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.5803,0.4842,0.4842,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.3262,0.5182;po_B_gain_someG_source=8:6959834-8600711_esv2764098|8:7024892-8031414_DDD:26674|8:7053187-8130689_TS40:ISCA-37472|8:7170611-7177489_nsv515099|8:7201176-7392220_DDD:26689|8:7212583-7227421_1000g|8:7212583-7227421_TS40:ISCA-46631|8:7241528-7403182_nsv515100|8:7308244-7308706_DDD:26704|8:7632945-7856630_DDD:26727|8:7717878-7717938_DDD:26737|8:7734213-7856702_DDD:26743|8:7737000-7743100_gnomAD-SV_v2.1_DUP_8_23708|8:6959834-8600711_esv2764098|8:7024892-8031414_DDD:26674|8:7053187-8130689_TS40:ISCA-37472|8:7170611-7177489_nsv515099|8:7201176-7392220_DDD:26689|8:7212583-7227421_1000g|8:7212583-7227421_TS40:ISCA-46631...;po_B_gain_someG_coord=8:6858816-8072303_esv2761169|8:6985776-7230992_DDD:26670|8:7035907-7428513_DDD:26675|8:7154889-7213289_DDD:26682|8:7190891-7190961_DDD:26685|8:7212583-7227421_1000g|8:7212583-7227421_1000g|8:7212583-7227421_dgv1365e214|8:7250369-7832042_dgv6936n100|8:7401394-7472190_DDD:26720|8:7634705-7829839_DDD:26729|8:7718891-7784263_DDD:26742|8:7737000-7743100_TS40:ISCA-46381|8:6858816-8072303_esv2761169|8:6985776-7230992_DDD:26670|8:7035907-7428513_DDD:26675|8:7154889-7213289_DDD:26682|8:7190891-7190961_DDD:26685|8:7212583-7227421_1000g|8:7212583-7227421_1000g...;po_B_loss_someG_source=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...;po_B_loss_someG_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...;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;HGNC_gene_ID=.,HGNC:28890,HGNC:33469,HGNC:37182,HGNC:37176,HGNC:37134,HGNC:30193,HGNC:31702,HGNC:14534,HGNC:26165,HGNC:28879,HGNC:29930,HGNC:31918,HGNC:49420,HGNC:32255,HGNC:32270,HGNC:32271,HGNC:32262,HGNC:32266,HGNC:32264,HGNC:32256,HGNC:32265,HGNC:32267,HGNC:32257,HGNC:32258,HGNC:49396,HGNC:18086,HGNC:18087,HGNC:18088,HGNC:18115,HGNC:33342,HGNC:15967,HGNC:2767;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=-584093 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=FAM90A20;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,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|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26720|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-3747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v2764098,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|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934,8:6858816-8072303|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|8:7405950-7443050,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7085462-7537934|8:7401394-7472190|chr8:7405950-7443050|8:7405950-7443050,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7085462-7537934|8:7401394-7472190|chr8:7405950-7443050|8:7405950-7443050,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7632945-7856630|8:7736500-7764500|chr8:7736500-7764500|8:7736500-7764500,8:6858816-8072303|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;B_loss_AFmax=0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.5803,0.4842,0.4842,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.2237,0.3262,0.5182;po_B_gain_someG_source=8:6959834-8600711_esv2764098|8:7024892-8031414_DDD:26674|8:7053187-8130689_TS40:ISCA-37472|8:7170611-7177489_nsv515099|8:7201176-7392220_DDD:26689|8:7212583-7227421_1000g|8:7212583-7227421_TS40:ISCA-46631|8:7241528-7403182_nsv515100|8:7308244-7308706_DDD:26704|8:7632945-7856630_DDD:26727|8:7717878-7717938_DDD:26737|8:7734213-7856702_DDD:26743|8:7737000-7743100_gnomAD-SV_v2.1_DUP_8_23708|8:6959834-8600711_esv2764098|8:7024892-8031414_DDD:26674|8:7053187-8130689_TS40:ISCA-37472|8:7170611-7177489_nsv515099|8:7201176-7392220_DDD:26689|8:7212583-7227421_1000g|8:7212583-7227421_TS40:ISCA-46631...;po_B_gain_someG_coord=8:6858816-8072303_esv2761169|8:6985776-7230992_DDD:26670|8:7035907-7428513_DDD:26675|8:7154889-7213289_DDD:26682|8:7190891-7190961_DDD:26685|8:7212583-7227421_1000g|8:7212583-7227421_1000g|8:7212583-7227421_dgv1365e214|8:7250369-7832042_dgv6936n100|8:7401394-7472190_DDD:26720|8:7634705-7829839_DDD:26729|8:7718891-7784263_DDD:26742|8:7737000-7743100_TS40:ISCA-46381|8:6858816-8072303_esv2761169|8:6985776-7230992_DDD:26670|8:7035907-7428513_DDD:26675|8:7154889-7213289_DDD:26682|8:7190891-7190961_DDD:26685|8:7212583-7227421_1000g|8:7212583-7227421_1000g...;po_B_loss_someG_source=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...;po_B_loss_someG_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...;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;HGNC_gene_ID=.,HGNC:28890,HGNC:33469,HGNC:37182,HGNC:37176,HGNC:37134,HGNC:30193,HGNC:31702,HGNC:14534,HGNC:26165,HGNC:28879,HGNC:29930,HGNC:31918,HGNC:49420,HGNC:32255,HGNC:32270,HGNC:32271,HGNC:32262,HGNC:32266,HGNC:32264,HGNC:32256,HGNC:32265,HGNC:32267,HGNC:32257,HGNC:32258,HGNC:49396,HGNC:18086,HGNC:18087,HGNC:18088,HGNC:18115,HGNC:33342,HGNC:15967,HGNC:2767;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)|4O_(cf_po_B_gain_AllG_source,_B_gain_source,_po_B_gain_SomeG_source,_+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=584093 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;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_coord=8:57048633-57098412_1000g;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;GC_content_left=0.41;GC_content_right=0.33;Repeat_coord_right=8:57169736-57169990;Repeat_type_right=AluSz6;HI=.,0,.,.,.,.,.;TS=.,0,.,.,.,.,.;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|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|Moderate|Supportive,.,.,Limited,Moderate|Strong,.;GenCC_pmid=.,24941021[PMID]|32790018[PMID],.,.,34779126|34997960|35670744,15606491|28796236|32546215,.;NCBI_gene_ID=.,6224,26795,105375847,4342,5324,79145;HGNC_gene_ID=.,HGNC:10405,HGNC:10204,HGNC:53469,HGNC:7199,HGNC:9045,HGNC:28314;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=-183555 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;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=.,2000476|20004763|20004764|20004765|20004765[PMID]_20004763[PMID]_20004765[PMID]|22549410|22549410[PMID];NCBI_gene_ID=.,83696;HGNC_gene_ID=.,HGNC:30832;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=-26435 GT 1/.
10 46976158 . G