diff --git a/.gitignore b/.gitignore new file mode 100644 index 0000000..7c41b73 --- /dev/null +++ b/.gitignore @@ -0,0 +1,3 @@ +__pycache__/ +*.egg-info/ +*.tar.gz diff --git a/Dockerfile b/Dockerfile new file mode 100644 index 0000000..e3be7b5 --- /dev/null +++ b/Dockerfile @@ -0,0 +1,19 @@ +FROM python:3.9.16 + +LABEL maintainer="Jean-Baptiste Lamouche" +LABEL name="jb.lamouche@unistra.fr" + +#Install vcf2circos +RUN pip install git+https://github.com/JbaptisteLam/vcf2circos@manuscript + +#Download config +RUN wget https://www.lbgi.fr/~lamouche/vcf2circos/config_vcf2circos_29032023.tar.gz + +#Untar config +RUN tar -xzf config_vcf2circos_29032023.tar.gz + +#Set configuration path +RUN sed -i 's,\"Static\": \"/enadisk/maison/lamouche/dev_vcf2circos/Static\"\,,\"Static\": \"/Static\"\,,' /Static/options.json + +ENTRYPOINT ["vcf2circos"] + diff --git a/README.md b/README.md index 45dae56..040db5f 100644 --- a/README.md +++ b/README.md @@ -6,34 +6,74 @@ See documentation and code in [GitHub vcf2circos](https://github.com/bioinfo-chr This package is based on [PCircos](https://github.com/CJinnny/PCircos) code +``` +-._ _.--'"`'--._ _.--'"`'--._ _.--'"`'--._ _ + '-:`.'|`|"':-. '-:`.'|`|"':-. '-:`.'|`|"':-. '.` : '. + '. '. | | | |'. '. | | | |'. '. | | | |'. '.: '. '. + : '. '.| | | | '. '.| | | | '. '.| | | | '. '. : '. `. + ' '. `.:_ | :_.' '. `.:_ | :_.' '. `.:_ | :_.' '. `.' `. + `-..,..-' `-..,..-' `-..,..-' ` ` + + __ ___ _ + / _|__ \ (_) + __ _____| |_ ) |___ _ _ __ ___ ___ ___ + \ \ / / __| _| / // __| | '__/ __/ _ \/ __| + \ V / (__| | / /| (__| | | | (_| (_) \__ \ + \_/ \___|_| |____\___|_|_| \___\___/|___/ + + + +Author: Jean-Baptiste Lamouche, Antony Le Bechec, Jin Cui +Version: 1.1 +Last update: Mars 26 2023 + + +usage: python vcf2circos.py [-h] -i INPUT -o OUTPUT [-e EXPORT] [-p OPTIONS] [-a ASSEMBLY] + +optional arguments: + -h, --help show this help message and exit + -i INPUT, --input INPUT + Input vcf File + VCF SHOULD be multiallelic split to avoid trouble in vcf2circos + example: bcftools -m -any + Format will be autodetected from file path. + Supported format: + 'vcf.gz', 'vcf' + -o OUTPUT, --output OUTPUT + Output file. + Format will be autodetected from file path. + Supported format: + 'png', 'jpg', 'jpeg', 'webp', 'svg', 'pdf', 'eps', 'json' + -e EXPORT, --export EXPORT + Export file. + Format is 'json'. + Generate json file from VCF input file + -p OPTIONS, --options OPTIONS + Options file in json format + -a ASSEMBLY, --assembly ASSEMBLY + Genome assembly to use for now values available (hg19, hg38) +``` -![Doc Circos](docs/circos_help.png)
# Installation -## Git clone +## Git clone and Pip Download package source files. ``` $ git clone https://github.com/bioinfo-chru-strasbourg/vcf2circos.git . -``` - -## Pip - -Compile source using Pip to generate binary "vcf2circos" - -``` $ python -m pip install -e . ``` ## Docker -Build docker image "vcf2circos:latest" +Build docker image "vcf2circos:latest" +From inside cloned repository ``` -$ docker-compose build +$ docker image build -t vcf2circos:latest . ``` ## Configuration folder @@ -42,8 +82,7 @@ Configuration files could be download here: [vcf2circos-config](http://www.lbgi. ``` tar -xzf ``` -Regarding where you place your configuration folder previously downloaded, you need to specify the absolute path of the Static folder in "Static" json key (which will replace default value "config/Static")

-An example VCF is also available in the configuration folder called example.vcf +Regarding where you place your configuration folder previously downloaded, you need to specify the absolute path of the Static folder in "Static" json key (which will replace default value)


@@ -52,35 +91,21 @@ An example VCF is also available in the configuration folder called examp ## Binary ``` -$ vcf2circos --input config/Static/example.vcf.gz --options config/Static/options.json --output .html +$ vcf2circos --input config/Static/example.vcf.gz --options --output .html -a ``` ## Docker ``` -$ docker run -v $(pwd):/data vcf2circos:latest --input=demo_data/example.vcf.gz --output=/data/example.vcf.gz.html --options=demo_data/options.example.json - -``` - -## Python - -``` -$ python vcf2circos/__main__.py --input config/Static/example.vcf.gz --options config/Static/options.json --output .html +$ docker run -it --rm vcf2circos:1.1 -i -o -p /Static/options.json -a hg19 ``` -
- - # Input This package allows multiple input formats: -- VCF including SNV/InDel/SV (see [VCF specifications](https://samtools.github.io/hts-specs/VCFv4.2.pdf)). Header needs to contain contigs (in order of appearance). See [VCF example](demo_data/example.vcf.gz). -- JSON configuration file (see [PCircos](https://github.com/CJinnny/PCircos) documentation). See [JSON configuration example](demo_data/demo_params.json). - -Format will be autodetected from file path. - +- VCF including SNV/InDel/SV (see [VCF specifications](https://samtools.github.io/hts-specs/VCFv4.2.pdf)). Header needs to contain contigs (in order of appearance). See [VCF example](tests/example.vcf).
@@ -91,17 +116,9 @@ This package generates Circos plot in multiple formats (html, png, jpg, jpeg, we - Image files (i.e. png, jpg, jpeg, webp, svg, pdf, eps). See [PNG example](docs/refontcircos.png) and [PDF example](docs/refontcircos.pdf) - JSON Plotly file (see [Plotly documentation](https://plotly.com/)). -Format will be autodetected from file path. Output Circos plot sections from a VCF file: -![Doc Circos](docs/docs.circos.png) - - -
- -# Export - -Circos plot generated from VCF file can be exported as JSON configuration file, for further use. See [JSON configuration export example](demo_data/example.vcf.gz.export.json) +![Doc Circos](docs/circos.png)
@@ -113,36 +130,53 @@ Circos plot generated from a VCF file can be configured using a JSON options fil Here is an example of a JSON options file: ``` { - "General": { - "title": "", - "width": 1200, - "height": 1200, - "plot_bgcolor": "white" - }, - "Static": "config/Static", - "Assembly": "hg19", - "Chromosomes": { - "cytoband": "True", - "list": ["chr1", "chrX"] - }, - "Genes": { - "only_snv_in_sv_genes": false - }, - "Variants": { - "annotations": { - "fields": ["SVTYPE", "SVLEN"] - }, - "rings": { - "position": 0.4, - "height": 0.04, - "space": 0.01, - "nrings": 6 - } - }, - "Extra": [ - "gc" - ] -} + "General": { + "title": "", + "width": 1000, + "height": 1000, + "plot_bgcolor": "white" + }, + "Static": "", + "Assembly": "hg19", + "Chromosomes": { + "list": ["chrX"], + "all": false + }, + "Genes": { + "only_snv_in_sv_genes": false, + "extend": false + }, + "Variants": { + "annotations": { + "fields": [ + "REF", + "ALT", + "Tx", + "SV_length", + "SVLEN", + "END", + "CN", + "Gene_name", + "Gene_count", + "DDD_HI_percent", + "OMIM_morbid", + "GnomAD_pLI", + "LOEUF_bin", + "AnnotSV_ranking_criteria", + "ACMG_class" + ] + }, + "rings": { + "position": 0.5, + "height": 0.04, + "space": 0.01, + "nrings": 6 + } + }, + "Extra": [ + "gc" + ], + ```
@@ -174,8 +208,8 @@ Example: ``` "General": { "title": "", - "width": 1400, - "height": 1400, + "width": 1000, + "height": 1000, "plot_bgcolor": "white" } ``` @@ -202,17 +236,20 @@ The "list" option define the list of chromosomes to show in the Circos plot. Ord ## Genes section -The "Genes" section defines information about Genes (e.g. refGene data, list of genes to show). These information are used to annnotate variants (SNV and SV), and are used with algorithms highlight interesting information (e.g. only SNV on CNV genes). They also can be shown in the Circos plot (below Chromosomes ring) +The "Genes" section defines information about Genes (e.g. refGene data, list of genes to show). These information are used to annnotate variants (SNV and SV), and are used with algorithms highlight interesting information (e.g. only SNV on CNV genes). They also can be shown in the Circos plot (below Chromosomes ring) +only_snv_in_sv_genes: display only snv indels located inside SV boundaries +extend: display genes located 1Mb in upstream and downstream of SV boundaries ``` - "only_snv_in_sv_genes": true -} + "only_snv_in_sv_genes": true, + "extend": true ``` ### List of genes The "list" option defines the list of genes to show in the Circos plot, below Chromosomes/Cytoband ring. This list refers to the "gene" column in the data. -
+
+ ### Filter SNV on CNV genes The "only_snv_in_sv_genes" option will select (and show) only SNV that are located on genes mutated with at least 1 SV. diff --git a/dist/vcf2circos-2.1.1-py3-none-any.whl b/dist/vcf2circos-2.1.1-py3-none-any.whl deleted file mode 100644 index e626b1d..0000000 Binary files a/dist/vcf2circos-2.1.1-py3-none-any.whl and /dev/null differ diff --git a/docker-compose.yml b/docker-compose.yml deleted file mode 100644 index 08b971a..0000000 --- a/docker-compose.yml +++ /dev/null @@ -1,47 +0,0 @@ -############## -# vcf2circos # -############## -# Usage: docker-compose up -d - -version: '3' - -# SERVICES -########## - -services: - - # CLOUDGENE Dashboard - vcf2circos-cloudgene-service: - image: vcf2circos:latest - build: - context: . - dockerfile: ./docker/Dockerfile - args: - - CLOUDGENE_RELEASE=2.5.3 - container_name: vcf2circos-cloudgene-service - entrypoint: /tools/cloudgene/current/bin/launch.sh - restart: always - env_file: - - ./docker/.env - environment: - - CLOUDGENE_SERVICE_NAME=Cloudgene vcf2circos - - CLOUDGENE_HELP_PAGE=https://github.com/bioinfo-chru-strasbourg/vcf2circos - - START_CLOUDGENE=true - - START_HADOOP=false - ports: - - 8082:8082 - networks: - - vcf2circos_cloudgene - - - -# NETWORK -########### - -networks: - vcf2circos_cloudgene: - driver: "bridge" - ipam: - driver: default - config: - - subnet: 172.43.0.0/24 diff --git a/docker/.env b/docker/.env deleted file mode 100644 index e69de29..0000000 diff --git a/docker/Dockerfile b/docker/Dockerfile deleted file mode 100644 index 1f29d31..0000000 --- a/docker/Dockerfile +++ /dev/null @@ -1,101 +0,0 @@ -FROM ubuntu:20.04 -LABEL org.opencontainers.image.authors="antony.lebechec@chru-strasbourg.fr" - - -# ARGS - -ARG CLOUDGENE_RELEASE="2.5.3" - -########## -# Python # -########## -RUN apt-get update -y -RUN apt-get install -y openjdk-11-jre -RUN apt-get install -y python3.6 python3-pip curl docker -#docker-ce docker-ce-cli - - -############# -# CloudGene # -############# - -ENV TOOLS=/tools - -# TOOL INFO -ENV TOOL_NAME="cloudgene" -ENV TOOL_VERSION=$CLOUDGENE_RELEASE -ENV TOOL_TARBALL="v$TOOL_VERSION.tar.gz" -ENV TOOL_SOURCE_EXTERNAL="https://github.com/genepi/cloudgene/archive/refs/tags/$TOOL_TARBALL" -ENV PATH=$TOOLS/$TOOL_NAME/current/bin:$PATH -# TOOL PARAMETERS - - -RUN echo "BUILD" - -# TOOL INSTALLATION -RUN if [ -z $TOOL_VERSION ]; then TOOL_VERSION_FOLDER=latest; else TOOL_VERSION_FOLDER=$TOOL_VERSION; fi && \ - mkdir -p $TOOLS/$TOOL_NAME/$TOOL_VERSION_FOLDER/bin && \ - (cd $TOOLS/$TOOL_NAME/$TOOL_VERSION_FOLDER/bin && \ - curl -s install.cloudgene.io | bash -s $TOOL_VERSION && \ - ln -s $TOOL_VERSION_FOLDER $TOOLS/$TOOL_NAME/current && \ - mkdir -p $TOOLS/$TOOL_NAME/$TOOL_VERSION_FOLDER/bin/config/apps && \ - ln -s config/apps $TOOLS/$TOOL_NAME/$TOOL_VERSION_FOLDER/bin/apps && \ - mkdir -p $TOOLS/$TOOL_NAME/$TOOL_VERSION_FOLDER/bin/config/pages && \ - mv $TOOLS/$TOOL_NAME/$TOOL_VERSION_FOLDER/bin/sample/pages $TOOLS/$TOOL_NAME/$TOOL_VERSION_FOLDER/bin/sample/pages.orignal && \ - ln -s ../config/pages $TOOLS/$TOOL_NAME/$TOOL_VERSION_FOLDER/bin/sample/pages && \ - cp -pR $TOOLS/$TOOL_NAME/$TOOL_VERSION_FOLDER/bin/sample/pages.orignal/*.stache config/pages/ && \ - mkdir -p $TOOLS/$TOOL_NAME/$TOOL_VERSION_FOLDER/bin/data/tmp && \ - ln -s data/tmp $TOOLS/$TOOL_NAME/$TOOL_VERSION_FOLDER/bin/tmp && \ - mkdir -p $TOOLS/$TOOL_NAME/$TOOL_VERSION_FOLDER/bin/data/workspace && \ - ln -s data/workspace $TOOLS/$TOOL_NAME/$TOOL_VERSION_FOLDER/bin/workspace) - - -# Service -ENV CLOUDGENE_SERVICE_NAME="Cloudgene vcf2circos" -ENV CLOUDGENE_HELP_PAGE=https://github.com/bioinfo-chru-strasbourg/vcf2circos -ENV START_CLOUDGENE=true -ENV START_HADOOP=true - -# ENDPOINT -# EXPOSE 8082 -# ENTRYPOINT [ "tools/cloudgene/current/bin/launch.sh" ] - - - -############## -# vcf2circos # -############## - -RUN mkdir /app -WORKDIR /app - -RUN pip3 install --upgrade pip -ADD ./README.md /app/ -ADD ./LICENSE /app/ -ADD ./setup* /app/ -ADD ./vcf2circos /app/vcf2circos -ADD ./demo_data /app/demo_data -ADD ./docs /app/docs -RUN python3 -m pip install -e . - - -#################### -# Cloudgene Config # -#################### - -# Scripts -# ADD ./docker/cloudgene/conf/* $TOOLS/$TOOL_NAME/current/bin/config/ -# ADD ./docker/cloudgene/scripts/launch.sh $TOOLS/$TOOL_NAME/current/bin/ - -ADD ./docker/cloudgene/conf/log4j2.xml $TOOLS/$TOOL_NAME/current/bin/config/ -ADD ./docker/cloudgene/conf/settings.yaml $TOOLS/$TOOL_NAME/current/bin/config/ -ADD ./docker/cloudgene/conf/apps $TOOLS/$TOOL_NAME/current/bin/config/apps -ADD ./docker/cloudgene/conf/pages $TOOLS/$TOOL_NAME/current/bin/config/pages -ADD ./docker/cloudgene/scripts/launch.sh $TOOLS/$TOOL_NAME/current/bin/ - - -############## -# ENTRYPOINT # -############## - -ENTRYPOINT ["vcf2circos"] diff --git a/docker/cloudgene/README.md b/docker/cloudgene/README.md deleted file mode 100755 index 36aa357..0000000 --- a/docker/cloudgene/README.md +++ /dev/null @@ -1 +0,0 @@ -# CloudGene diff --git a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/README.md b/docker/cloudgene/conf/apps/vcf2circos/1.0.0/README.md deleted file mode 100644 index 8161178..0000000 --- a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/README.md +++ /dev/null @@ -1,2 +0,0 @@ -# installApp -Install an CloudGene Application with a TarBall (zip) file diff --git a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/application.sh b/docker/cloudgene/conf/apps/vcf2circos/1.0.0/application.sh deleted file mode 100644 index d5064d8..0000000 --- a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/application.sh +++ /dev/null @@ -1,10 +0,0 @@ -#!/bin/bash - -# INPUT -VCF=$1 -PLOT=$2 - -echo "[INFO] VCF: "$(basename $VCF) - -vcf2circos --input=$VCF --output=$PLOT.html --options=options/options.default.json - diff --git a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/application.yaml b/docker/cloudgene/conf/apps/vcf2circos/1.0.0/application.yaml deleted file mode 100644 index 5dc336f..0000000 --- a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/application.yaml +++ /dev/null @@ -1,28 +0,0 @@ -id: vcf2circos -name: vcf2circos Application -description: vcf2circos Application.
This application generat a Circos plot from a VCF file. -category: VCF -version: 1.0.0 -author: Antony Le Bechec -submitButton: Circos Plot -workflow: - steps: - - name: Circos plot - cmd: /bin/bash application.sh "$vcf" "$plot" - bash: true - stdout: true - - inputs: - - id: vcf - description: VCF file - type: local_file - accept: .vcf, .gz - - outputs: - - id: plot - description: Output Circos plot - type: local_file - mergeOutput: false - download: true - zip: false - \ No newline at end of file diff --git a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/ClinGen.blue.txt.gz b/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/ClinGen.blue.txt.gz deleted file mode 100644 index 5084378..0000000 Binary files a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/ClinGen.blue.txt.gz and /dev/null differ diff --git a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/cytoband_hg19_chr_infos.txt.gz b/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/cytoband_hg19_chr_infos.txt.gz deleted file mode 100644 index 780255b..0000000 Binary files a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/cytoband_hg19_chr_infos.txt.gz and /dev/null differ diff --git a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.additional_annotations.ClinGen.json b/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.additional_annotations.ClinGen.json deleted file mode 100644 index 0bc79e7..0000000 --- a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.additional_annotations.ClinGen.json +++ /dev/null @@ -1,39 +0,0 @@ -{ - "histogram": [ - { - "show": "True", - "customfillcolor": "False", - "file": { - "path": "ClinGen.blue.txt.gz", - "header": "infer", - "sep": "\t" - }, - "sortbycolor": "False", - "colorcolumn": 4, - "radius": { - "R0": 0.90, - "R1": 0.92 - }, - "hovertextformat": " \"{}:{}-{}
ClinGen informations:
{}\".format(a[i,0], a[i,1], a[i,2], a[i,5].replace(';', '
').replace('%2C', '
')) ", - "trace": { - "hoverinfo": "text", - "mode": "markers", - "marker": { - "size": 5, - "symbol": 0, - "color": "blue", - "opacity": 1 - } - }, - "layout": { - "type": "path", - "opacity": 1, - "fillcolor": "gray", - "line": { - "color": "gray", - "width": 5 - } - } - } - ] -} \ No newline at end of file diff --git a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.cytoband.data.path.infos.json b/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.cytoband.data.path.infos.json deleted file mode 100644 index 6b94f21..0000000 --- a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.cytoband.data.path.infos.json +++ /dev/null @@ -1,5 +0,0 @@ -{ - "path": "cytoband_hg19_chr_infos.txt.gz", - "header": "infer", - "sep": "\t" -} \ No newline at end of file diff --git a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.default.json b/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.default.json deleted file mode 100644 index bd4123c..0000000 --- a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.default.json +++ /dev/null @@ -1,32 +0,0 @@ -{ - "General": { - "title": "", - "width": 1400, - "height": 1400, - "plot_bgcolor": "white" - }, - "Chromosomes": { - "cytoband": "options.cytoband.data.path.infos.json" - }, - "Genes": { - "data": "options.genes.data.path.json", - "list" : ["targets"], - "only_snv_in_sv_genes": false - }, - "Exons": { - "data": "options.genes_exons.data.path.json", - "show": false - }, - "Variants": { - "annotations": { - "fields": ["chr", "pos", "ref", "alt", "nomen"], - "show_none": false - }, - "rings": { - "position": 0.50, - "height": 0.04, - "space": 0.01 - } - }, - "Additonal_annotations": ["options.additional_annotations.ClinGen.json"] -} diff --git a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.genes.data.path.json b/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.genes.data.path.json deleted file mode 100644 index 6e592a5..0000000 --- a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.genes.data.path.json +++ /dev/null @@ -1,5 +0,0 @@ -{ - "path": "refGene.txt.gz", - "header": "infer", - "sep": "\t" -} \ No newline at end of file diff --git a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.genes_exons.data.path.json b/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.genes_exons.data.path.json deleted file mode 100644 index e6d5617..0000000 --- a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/options.genes_exons.data.path.json +++ /dev/null @@ -1,5 +0,0 @@ -{ - "path": "refGene.exons.txt.gz", - "header": "infer", - "sep": "\t" -} \ No newline at end of file diff --git a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/refGene.exons.txt.gz b/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/refGene.exons.txt.gz deleted file mode 100644 index 206c17b..0000000 Binary files a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/refGene.exons.txt.gz and /dev/null differ diff --git a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/refGene.txt.gz b/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/refGene.txt.gz deleted file mode 100644 index bed13b2..0000000 Binary files a/docker/cloudgene/conf/apps/vcf2circos/1.0.0/options/refGene.txt.gz and /dev/null differ diff --git a/docker/cloudgene/conf/log4j2.xml b/docker/cloudgene/conf/log4j2.xml deleted file mode 100644 index c260e23..0000000 --- a/docker/cloudgene/conf/log4j2.xml +++ /dev/null @@ -1,62 +0,0 @@ - - - - - - - - - - - - %d [%t] %-5p %c - %m%n - - - - - - - - - - %d [%t] %-5p %c - %m%n - - - - - - - - - - %m%n - - - - - - - - - - - - - - - - - - - - - - - - - - - - - diff --git a/docker/cloudgene/conf/pages/contact.stache b/docker/cloudgene/conf/pages/contact.stache deleted file mode 100644 index e461aa2..0000000 --- a/docker/cloudgene/conf/pages/contact.stache +++ /dev/null @@ -1,20 +0,0 @@ -

Contact

- -

Cloudgene is developed at the Division of Genetic Epidemiology Innsbruck in cooperation with the Center for Statistical Genetics, University of Michigan. Special thanks goes to Christian Fuchsberger and Goncalo Abecasis supported by the FWF Austrian Science Fund and the U.S. National Institutes of Health.

- -

Main Contributors

- -

alt text - Lukas Forer (@lukfor)

- -

alt text - Sebastian Schoenherr (@seppinho)

-
-

Contributors

- -
    -
  • Christian Fuchsberger
    • -
  • Hansi Weissensteiner
    • -
  • Goncalo Abecasis
    • -
  • Florian Kronenberg
    • -
diff --git a/docker/cloudgene/conf/pages/help.stache b/docker/cloudgene/conf/pages/help.stache deleted file mode 100644 index 85a0818..0000000 --- a/docker/cloudgene/conf/pages/help.stache +++ /dev/null @@ -1,3 +0,0 @@ -

User-Manual

- -

Learn more about Cloudgene at cloudgene.uibk.ac.at

diff --git a/docker/cloudgene/conf/pages/home.stache b/docker/cloudgene/conf/pages/home.stache deleted file mode 100644 index f3a11cb..0000000 --- a/docker/cloudgene/conf/pages/home.stache +++ /dev/null @@ -1,24 +0,0 @@ -
-
-

Welcome to Cloudgene for STARK!

- {{#is(loggedIn, true)}} -

- Learn more -

- {{else}} -

- Login  - Sign up now -

- {{/is}} -
-
- diff --git a/docker/cloudgene/conf/settings.yaml b/docker/cloudgene/conf/settings.yaml deleted file mode 100644 index 050b2da..0000000 --- a/docker/cloudgene/conf/settings.yaml +++ /dev/null @@ -1,12 +0,0 @@ -!cloudgene.mapred.util.Settings -apps: !java.util.Vector -- id: vcf2circos@1.0.0 - changed: false - filename: apps/vcf2circos/1.0.0/application.yaml - permission: users -navigation: !java.util.Vector -- !cloudgene.mapred.util.MenuItem - id: help - name: Help - link: https://github.com/lukfor/docker-cloudgene -secretKey: xvVSYZsOObhwfUwTMvrPLaRsLLcyMYXoshbxOclSXESHaxoDJwGWJktZJkaHUtwF diff --git a/docker/cloudgene/scripts/launch.sh b/docker/cloudgene/scripts/launch.sh deleted file mode 100755 index a2a27ad..0000000 --- a/docker/cloudgene/scripts/launch.sh +++ /dev/null @@ -1,5 +0,0 @@ -#!/bin/bash -mkdir -p /tools/cloudgene/current/bin/config/apps -mkdir -p /tools/cloudgene/current/bin/data/tmp -mkdir -p /tools/cloudgene/current/bin/data/workspace -/tools/cloudgene/current/bin/cloudgene server \ No newline at end of file diff --git a/docs/VCF2Circos_favicon.png b/docs/VCF2Circos_favicon.png new file mode 100644 index 0000000..837d601 Binary files /dev/null and b/docs/VCF2Circos_favicon.png differ diff --git a/docs/circos.png b/docs/circos.png new file mode 100644 index 0000000..ca5a9d6 Binary files /dev/null and b/docs/circos.png differ diff --git a/pyproject.toml b/pyproject.toml new file mode 100644 index 0000000..aa4949a --- /dev/null +++ b/pyproject.toml @@ -0,0 +1,2 @@ +[tool.black] +line-length = 100 diff --git a/setup.cfg b/setup.cfg index 5d2b06b..21ccfd2 100644 --- a/setup.cfg +++ b/setup.cfg @@ -14,14 +14,14 @@ classifiers = Intended Audience :: Science/Research Intended Audience :: Healthcare Industry Programming Language :: Python :: 3 - Programming Language :: Python :: 3.6 + Programming Language :: Python :: 3.8 License :: OSI Approved :: GNU Affero General Public License v3 (AGPL-3.0) [options] zip_safe = False include_package_data = True packages = vcf2circos -python_requires = >=3.6 +python_requires = >=3.8 install_requires = plotly colorlover @@ -51,6 +51,6 @@ console_scripts = [options.packages.find] where = vcf2circos -# [zest.releaser] -# create-wheel = yes -# python-file-with-version = variantconvert/__init__.py +[zest.releaser] +create-wheel = yes +python-file-with-version = vcf2circos/__init__.py diff --git a/tests/example.vcf b/tests/example.vcf new file mode 100644 index 0000000..ef070f4 --- /dev/null +++ b/tests/example.vcf @@ -0,0 +1,96 @@ +##fileformat=VCFv4.3 +##fileDate=23/03/2023 +##source=AnnotSV +##FILTER= +##ALT= +##ALT= +##INFO= +##INFO= +##INFO= +##INFO= +##FORMAT= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##reference=file:hg19 +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT sample1 sample2 +chr1 14110160 . G 999 PASS END=14110400 GT 0/1 0/1 +chr1 16686412 . A 595 PASS END=16686712 GT 0/1 0/1 +chr1 230332040 . A 999 PASS END=230332740 GT 1/1 0/1 +chr1 239953384 . C [chr1:239952710[C 350 PASS . GT 0/1 0/1 +chr1 242393674 . G 600 PASS END=242393874 GT 0/1 0/1 +chr1 242919671 . T ]chrY:11818884]T 10 PASS . GT 0/1 0/1 +chr2 31823407 . A A]chr12:52950398] 856 PASS . GT 0/1 0/1 +chr2 110138404 . T . . END=110222824 GT 0/1 0/1 +chr3 14396803 . A 441 PASS END=14396903 GT 1/1 0/1 +chr3 183361077 . G GAAGAGAAGAGAAGAGAAGACAAGACAAGACAAGACAAGACAAGACAAGACAAGAC 744 PASS . GT 1/1 0/1 +chr4 71552 . T . . END=71882 GT 0/1 0/1 +chr4 108408748 . G ]chr11:8818116]T . . . GT 0/1 0/1 +chr5 723194 . G . . END=723394 GT 0/1 0/1 +chr5 80251899 . T 999 PASS END=80261899 GT 1/1 0/1 +chr6 21567294 . A 765 PASS END=28567294 GT 0/1 ./. +chr6 32517394 . T ]chr15:61773012]T 13 PASS . GT 0/1 0/1 +chr6 62532367 . T TAGTTC 13 PASS . GT 0/1 0/1 +chr6 62832367 . T A 14 PASS . GT 0/1 0/1 +chr6 77000000 . T . . SVTYPE=INV;END=77005390;SVLEN=5390 GT 1/0 0/1 +chr6 96497729 . C CATTTGCTGAGGAGTGCTTTACTTCCGATTATGTGGTCAATTTTAGAATAAGTGTGATGTGGTGCTGAGA 414 PASS . GT 1/1 0/1 +chr6 108946461 . T . PASS SVLEN=359000;CN=4 GT 0/1 0/1 +chr6 129457659 . T . PASS END=136457659 GT 0/1 0/1 +chr7 110320505 . A . . END=110278505 GT 0/1 0/1 +chr8 65056996 . G T . PASS . GT 1/0 0/1 +chr9 86541032 . A [chr9:86540929[A 984 PASS . GT 1/1 0/1 +chr9 98712815 . A ]chr22:32179722[T . . . GT 0/1 0/1 +chr11 8818116 . G G[chr4:108408748[ 797 PASS . GT 0/1 0/1 +chr11 38989189 . CTTTCTTTCTTTTTCGTTTCCTTCCTTCCTTCCATGCTTCCTTCCTTCCTGCCTGCCTTTTTTTTTT C 345 PASS . GT 0/1 0/1 +chr11 66287088 . A . . END=66288088 GT 0/1 0/1 +chr11 90159990 . A AGCACTTGAGCCTGGCCAACAAGACTGAAACTCCATCTAAAAAAAAAAAAAAAAAAAAAATAGGGTAATTTAC 132 PASS . GT 0/1 0/1 +chr11 131266685 . TACACTGCATATATATACAGATATATACAGTGTATATATATACAGATATATGCAGTGTATATATATACAGTGTATATATATACAGATATATGCAGTGTATATATATACAGTGTATATATATACGTT TGCA 222 PASS . GT 0/1 0/1 +chr12 30793848 . A . PASS END=131761670 GT 0/1 ./. +chr12 52950398 . T ]chr2:31823407[G . . . GT 0/1 0/1 +chr12 76738542 . G A . PASS . GT 0/1 0/1 +chr12 93484972 . ACAC ATATATATATACATATATATACATATATATATATACACACATATATATACATATATATATATACACATATATCTATACATATATATATAT 268 PASS . GT 1/1 0/1 +chr12 114828444 . A 975 PASS END=114828644 GT 0/1 0/1 +chr13 86026500 . CCATCATATATATATATATATATATATATATATATGATGGAAATTTTGACTTTTAAAA C 663 PASS . GT 1/1 0/1 +chr14 34988579 . ATATAT AAAAAAATATATATATATATAACATATATATATATATAACATATATATAACATATATATATATAACATATATATAAC 266 PASS . GT 1/1 ./. +chr14 50000000 . A 9.6 PASS SVTYPE=CNV;END=60000000;SVLEN=12335600 GT 1/0 0/1 +chr14 70000000 . A 9.6 PASS SVTYPE=CNV;END=80000000;SVLEN=12335600 GT 1|0 0/1 +chr15 34735949 . G . . END=34735749 GT 0/1 0/1 +chr15 61773012 . T T]chr6:32517394] . . . GT 0/1 0/1 +chr16 1565629 . C . . END=1570629 GT 0/1 0/1 +chr16 21935448 . G 714 PASS END=21937448 GT 0/1 0/1 +chr16 25873306 . CCATCCATCCATCCATCCTTCCTTCCTTCCTTTCATCCATCTATCCATCCATCCACCTAGCAAGCCATCCAGT C 284 PASS . GT 1/1 0/1 +chr16 34050155 . GCCCGCGACTCCGCGGCTTTTTGCCGCCGCCTCCGCGGCTTTTCCCCCGCGACTCCGCGGCTTTTTGCCGCCGCCTCCGCGGCTTTTTC G 374 PASS . GT 0/1 0/1 +chr16 34060175 . A C . PASS . GT 0/1 0/1 +chr16 36353046 . A T[chr19:27240843[ 32 PASS . GT 1/1 0/1 +chr17 25539212 . A 353 PASS END=25539800 GT 1/1 0/1 +chr17 54627815 . AAATCATCTGCTTGCAGTATATTTGCAGAAACCAAATAATCAAAGGGACTT A 659 PASS . GT 0/1 0/1 +chr17 82333571 . A 258 PASS END=82335000 GT 0/1 0/1 +chr19 27240843 . G ]chr16:36353046]T . PASS . GT 0/1 0/1 +chr19 17708402 . A ATATATACTATATATAGTATATATACTATATACTATATATAGTATATATAC 598 PASS . GT 1/1 ./. +chr20 29054617 . A A]chr21:5216478] 60 PASS . GT 0/1 0/1 +chr21 5216478 . G ]chr20:29054617]A 60 PASS . GT 0/1 0/1 +chr22 32179722 . T A[chr9:98712815[ 222 PASS . GT 0/1 0/1 +chrX 53239925 . T C . PASS . GT 0/1 0/1 +chrY 11818884 . C T]chr1:242919671] 60 PASS . GT 0/1 0/1 diff --git a/tests/test_config.json b/tests/test_config.json new file mode 100644 index 0000000..681b623 --- /dev/null +++ b/tests/test_config.json @@ -0,0 +1,47 @@ +{ + "General": { + "title": "", + "width": 1000, + "height": 1000, + "plot_bgcolor": "white" + }, + "Static": "/home1/BAS/lamouchj/config_vcf2circos_09012023/Static", + "Assembly": "hg19", + "Chromosomes": { + "list": [], + "all": false + }, + "Genes": { + "only_snv_in_sv_genes": false, + "extend": false + }, + "Variants": { + "annotations": { + "fields": [] + }, + "rings": { + "position": 0.4, + "height": 0.04, + "space": 0.01, + "nrings": 6 + } + }, + "Extra": [], + "Color": { + "INS": "mediumorchid", + "INV": "darkorange", + "DEL": "crimson", + "DUP": "royalblue", + "CNV": "limegreen", + "BND": "gold", + "SNV": "lightslategray", + "INDEL": "slategray", + "OTHER": "silver", + "MORBID_GENES": "firebrick", + "GENES": "darkgray", + "CYTOBAND": "gray", + "INTERMEDIATE": "dimgrey", + "GC": "darkblue", + "MAPPABILITY": "indianred" + } +} diff --git a/tests/test_copy_number.vcf b/tests/test_copy_number.vcf new file mode 100644 index 0000000..ed9905d --- /dev/null +++ b/tests/test_copy_number.vcf @@ -0,0 +1,99 @@ +##fileformat=VCFv4.3 +##FILTER= +##fileDate=20210317 +##reference=GRCh37 +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##ALT= +##ALT= +##ALT= +##ALT= +##ALT= +##ALT= +##ALT= +##ALT= +##ALT= +##ALT= +##ALT= +##ALT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##bcftools_viewVersion=1.15.1+htslib-1.15.1 +##bcftools_viewCommand=view example.vcf.gz; Date=Tue Oct 11 16:15:14 2022 +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT sample1 sample2 sample3 sample4 +chrX 10 . NN 10 PASS SVTYPE=CNV;END=11987750;SVLEN=11987650 GT:GQ:DP 1|0:48:5 0|0:48:1 1/1:43:5 0/0:.:. +chrX 5987650 . NN 10 PASS SVTYPE=CNV;END=11987750;SVLEN=11987650 GT:GQ:DP 1|0:48:5 0|0:48:1 1/1:43:5 0/0:.:. +chrX 13771576 bnd_z A A[12:2791206[ 1556.77 PASS SVTYPE=BND;MATEID=bnd_y;EVENT=RR0 GT:GQ:DP 0|0:3:3 1|0:49:4 1/1:41:3 0/0:.:. +chrX 13771577 bnd_w A ]12:2791205]A 1556.77 PASS SVTYPE=BND;MATEID=bnd_x;EVENT=RR0 GT:GQ:DP 0|0:48:1 1|0:48:5 1/1:43:5 0/0:.:. +chrX 21534509 . A 1724.73 PASS SVTYPE=INV;END=31939919 GT:GQ:DP 0/0:35:4 0/1:17:2 1/1:40:3 0/0:.:. +chrX 47466361 bnd_G A ]14:31535603]A 3099.77 PASS SVTYPE=BND;MATEID=bnd_E GT:GQ:DP 0|0:48:1 1|0:48:5 1/1:43:4 0/0:.:. +chrX 70653953 . T 5620.73 PASS SVTYPE=INS;END=80653953;SVLEN=12876 GT:GQ:DP 1|0:49:4 0|0:3:3 1/1:41:1 0/0:.:. +chrX 90653953 . T 5620.73 PASS SVTYPE=INS;END=100653953;SVLEN=12876 GT:GQ:DP 1|0:49:4 0|0:3:3 1/1:41:1 0/0:.:. +chrX 110653953 . T 5620.73 PASS SVTYPE=INS;END=120653953;SVLEN=12876;CN=4 GT:GQ:DP 1|0:49:4 0|0:3:3 1/1:41:1 0/0:.:. +chrX 130653953 . T 5620.73 PASS SVTYPE=INS;END=140653953;SVLEN=12876 GT:GQ:DP:CN 1|0:49:4:. 0|0:3:3:5 1/1:41:1:. 0/0:.:.:. +chrX 128721193 . A 556.77 PASS SVTYPE=DUP;END=128722793;SVLEN=15600 GT:GQ:DP 0|0:48:1 1|0:48:3 1/1:43:1 0/0:.:. +chr1 120254545 . G 909.77 PASS SVTYPE=INS;END=120254746;SVLEN=201 GT:GQ:DP 0/0:35:4 0/1:17:4 1/1:40:1 0/0:.:. +chr2 166183577 . C 1847.77 PASS SVTYPE=INS;END=166183910;SVLEN=333 GT:GQ:DP 0|0:3:3 1|0:49:4 1/1:41:2 0/0:.:. +chr2 241686789 . G 2876.77 PASS SVTYPE=INV;END=242426789 GT:GQ:DP 0|0:3:1 1|0:49:3 1/1:41:3 0/0:.:. +chr4 1940143 . C 206.77 PASS SVTYPE=DEL;END=1990143;SVLEN=-50000 GT:GQ:DP 0|0:48:6 1|0:48:6 1/1:43:2 0/0:.:. +chr5 179780340 . GT 145 PASS SVTYPE=DUP;END=180002540;SVLEN=222200 GT:GQ:DP 1/1:41:6 0|0:3:1 1|0:49:3 0/0:.:. +chr7 78119221 . G 1870.73 PASS SVTYPE=DUP;END=139119221;SVLEN=1000000 GT:GQ:DP 0|0:3:3 1|0:49:2 1/1:41:1 0/0:.:. +chr7 155251433 . C 355.77 PASS SVTYPE=DUP;END=155252433;SVLEN=1000 GT:GQ:DP 0/0:35:4 0/1:17:2 1/1:40:2 0/0:.:. +chr9 37020622 . A 2277.77 PASS SVTYPE=INS;END=37020622;SVLEN=234991 GT:GQ:DP 1|0:48:3 1/1:43:1 0|0:48:1 0/0:.:. +chr9 140001341 . G 6321.73 PASS SVTYPE=DEL;END=140001491;SVLEN=-150 GT:GQ:DP 1/1:40:3 0/0:35:4 0/1:17:2 0/0:.:. +chr11 694974 . A 44.77 PASS SVTYPE=DUP;END=699974;SVLEN=5000 GT:GQ:DP 0|0:48:1 1|0:48:5 1/1:43:4 0/0:.:. +chr12 2791205 bnd_x A A[X:13771577[ 12279.8 PASS SVTYPE=BND;MATEID=bnd_w;EVENT=RR0 GT:GQ:DP 0|0:48:1 1|0:48:5 1/1:43:4 0/0:.:. +chr12 2791206 bnd_y A ]X:13771576]A 12279.8 PASS SVTYPE=BND;MATEID=bnd_z;EVENT=RR0 GT:GQ:DP 0|0:48:1 1|0:48:5 1/1:43:4 0/0:.:. +chr12 22200742 . C 19409.8 PASS SVTYPE=DEL;END=32207543;SVLEN=-6801 GT:GQ:DP 1|0:48:6 0|0:48:6 1/1:43:3 0/0:.:. +chr12 52200742 . C 19409.8 PASS SVTYPE=DEL;END=52207543;SVLEN=-6801 GT:GQ:DP 1|0:48:6 0|0:48:6 1/1:43:3 0/0:.:. +chr12 62200742 . C 19409.8 PASS SVTYPE=DEL;END=72207543;SVLEN=-6801;CN=0 GT:GQ:DP 1|0:48:6 0|0:48:6 1/1:43:3 0/0:.:. +chr12 82200742 . C 19409.8 PASS SVTYPE=DEL;END=102207543;SVLEN=-6801;CN=1 GT:GQ:DP 1|0:48:6 0|0:48:6 1/1:43:3 0/0:.:. +chr13 32893300 . C 19409.8 PASS SVTYPE=DEL;END=32893400;SVLEN=100;CN=1 GT:GQ:DP 1|0:48:6 0|0:48:6 1/1:43:3 0/0:.:. +chr13 32893302 . T A 142.686 PASS GNOMEN=BRCA2 GT:GQ:DP 0/1:48:6 0/0:.:. 0/0:.:. 0/0:.:. +chr14 31535603 bnd_E G G[15:26866738[,G[X:47466361[ 3197.05 PASS SVTYPE=BND;MATEID=bnd_F,bnd_G GT:GQ:DP 0|0:3:3 1|0:49:4 1/1:41:3 0/0:.:. +chr15 26866738 bnd_F C ]14:31535603]C 3558.77 PASS SVTYPE=BND;MATEID=bnd_E GT:GQ:DP 0|0:48:1 1|0:48:5 1/1:43:4 0/0:.:. +chr15 63937209 . C 6630.77 PASS SVTYPE=INV;END=63941509 GT:GQ:DP 0|0:3:1 1|0:49:3 1/1:41:3 0/0:.:. +chr17 42964145 . C 2456.77 PASS SVTYPE=INS;END=42964145;SVLEN=20000 GT:GQ:DP 0|0:48:1 1|0:48:3 1/1:43:1 0/0:.:. +chr19 111 . N 9.6 PASS SVTYPE=CNV;END=123467;SVLEN=123356 GT:GQ:DP 0|0:48:6 1|0:48:6 1/1:43:2 0/0:.:. +chr14 10000000 . N 9.6 PASS SVTYPE=CNV;END=20000000;SVLEN=12335600 GT:GQ:DP:CN 0|0:48:6:. 1|0:48:6:. 1/1:43:2:. 0/0:.:.:. +chr14 30000000 . N 9.6 PASS SVTYPE=CNV;END=40000000;SVLEN=12335600 GT:GQ:DP:CN 0|0:48:6:0 1|0:48:6:. 1/1:43:2:. 0/0:.:.:. +chr14 70000000 . N 9.6 PASS SVTYPE=CNV;END=80000000;SVLEN=12335600;CN=4 GT:GQ:DP:CN 0|0:48:6:0 1|0:48:6:. 1/1:43:2:. 0/0:.:.:. +chr14 90000000 . N 9.6 PASS SVTYPE=CNV;END=100000000;SVLEN=12335600 GT:GQ:DP:CN 0|0:48:6:5 1|0:48:6:. 1/1:43:2:. 0/0:.:.:. +chr14 11100000 . N 9.6 PASS SVTYPE=CNV;END=15346700;SVLEN=123356 GT:GQ:DP:CN 0|0:48:6:. 1|0:48:6:. 1/1:43:2:18 0/0:.:.:. +chr20 1235237 . G . PASS SVTYPE=CNV;END=1236000;SVLEN=763 GT:GQ:DP 0/0:35:4 0/1:17:2 1/1:40:3 0/0:.:. +chr22 42575528 . G 151.77 PASS SVTYPE=DUP;END=42698984;SVLEN=123456 GT:GQ:DP 0|0:48:1 1|0:48:3 1/1:43:1 0/0:.:. +chr1 28736 . G A 100 PASS . GT:AD:DP:GQ 0/1:525,204:729:99 0/1:12659,4994:17664:99 1/1:12658,4995:17663:99 1/1:401,175:576:99 +chr1 35144 . A C 100 PASS . GT:AD:DP:GQ 0/1:525,204:729:99 0/1:12659,4994:17664:99 0/1:12658,4995:17663:99 0/1:401,175:576:99 +chr1 35144 . A C 100 PASS . GT:AD:DP:GQ 0/1:525,204:729:99 0/1:12659,4994:17664:99 0/1:12658,4995:17663:99 0/1:401,175:576:99 +chr1 69101 . T G,C 100 PASS . GT:AD:DP:GQ 0/1:525,204:729:99 0/1:12659,4994:17664:99 0/1:12658,4995:17663:99 0/2:401,175:576:99 +chr7 55249063 . G GAAAA,GAAAAA,GAAAAAAA 5777 PASS . GT:AD:DP:GQ 0/1:525,204:729:99 0/2:12659,4994:17664:99 0/3:12658,4995:17663:99 1/2:401,175:576:99 +chr7 55249063 . G GAAAAAAA 5777 PASS . GT:AD:DP:GQ 0/1:525,204:729:99 0/1:12659,4994:17664:99 0/1:12658,4995:17663:99 0/1:401,175:576:99 +chr14 50000000 . A 9.6 PASS AnnotSV_ID=14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1;SV_chrom=14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14;SV_start=50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000;SV_end=60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000;SV_length=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;SV_type=|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||;Samples_ID=sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX;FORMAT=GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT;sampleX=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|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|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|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|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;sample1=./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.;Annotation_mode=full&split;CytoBand=q23.1-q21.3|q22.1|q23.1|q22.3|q21.3|q23.1|q23.1|q22.3|q22.1|q22.2|q23.1|q22.3|q21.3|q22.2|q22.2|q22.2|q23.1|q23.1|q22.1|q22.3|q21.3|q21.3|q22.1|q22.3|q22.3|q22.1|q22.1|q22.1|q22.1|q22.2|q22.2|q22.1|q22.1|q23.1|q22.1|q23.1|q23.1|q21.3|q21.3|q22.3|q22.3|q21.3|q23.1|q22.3|q23.1|q22.1|q22.3|q22.1|q23.1|q21.3|q21.3|q22.1|q22.1|q22.3|q22.1|q22.1|q21.3|q22.1-q21.3|q22.3|q21.3|q22.2|q21.3|q22.2|q21.3|q22.3|q21.3|q22.1|q22.1|q22.3|q22.3|q22.3|q21.3|q23.1|q23.1|q22.1|q22.1|q22.1|q22.1|q21.3|q21.3|q21.3|q22.3|q21.3|q21.3|q22.1|q22.2|q22.1|q23.1-q22.3|q22.3-q22.2|q21.3|q22.1|q22.3|q23.1|q22.3|q22.1|q23.1|q22.1|q22.1|q21.3|q22.2;Gene_name=ABHD12B,ACTR10,AP5M1,ARF6,ARID4A,ARMH4,ATG14,ATL1,BMP4,CCDC175,CCDC198,CDKL1,CDKN3,CGRRF1,CNIH1,DAAM1,DACT1,DDHD1,DLGAP5,DMAC2L,DNAAF2,ERO1A,EXOC5,FBXO34,FERMT2,FRMD6,FRMD6-AS1,FRMD6-AS2,GCH1,GMFB,GNG2,GNPNAT1,GPR135,GPR137C,JKAMP,KIAA0586,KLHDC1,KLHDC2,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LINC00216,LINC00519,LINC00520,LINC00640,LINC01500,LINC01588,LINC01599,LINC02310,LOC101927620,LOC101927690,LOC102723604,LOC105370489,LRR1,MAP4K5,MAPK1IP1L,MGAT2,MIR4308,MIR4504,MIR5580,MIR6076,NAA30,NEMF,NID2,NIN,OTX2,OTX2-AS1,PELI2,POLE2,PSMA3,PSMA3-AS1,PSMC6,PTGDR,PTGER2,PYGL,RN7SL1,RN7SL2,RN7SL3,RPL13AP3,RPL36AL,RPS29,RTRAF,SAMD4A,SAV1,SLC35F4,SOCS4,SOS2,STYX,TBPL2,TIMM9,TMEM260,TMX1,TOMM20L,TRIM9,TXNDC16,VCPKMT,WDHD1|ABHD12B|ACTR10|AP5M1|ARF6|ARID4A|ARMH4|ATG14|ATL1|BMP4|CCDC175|CCDC198|CDKL1|CDKN3|CGRRF1|CNIH1|DAAM1|DACT1|DDHD1|DLGAP5|DMAC2L|DNAAF2|ERO1A|EXOC5|FBXO34|FERMT2|FRMD6|FRMD6-AS1|FRMD6-AS2|GCH1|GMFB|GNG2|GNPNAT1|GPR135|GPR137C|JKAMP|KIAA0586|KLHDC1|KLHDC2|KTN1|KTN1-AS1|L2HGDH|L3HYPDH|LGALS3|LINC00216|LINC00519|LINC00520|LINC00640|LINC01500|LINC01588|LINC01599|LINC02310|LOC101927620|LOC101927690|LOC102723604|LOC105370489|LRR1|MAP4K5|MAPK1IP1L|MGAT2|MIR4308|MIR4504|MIR5580|MIR6076|NAA30|NEMF|NID2|NIN|OTX2|OTX2-AS1|PELI2|POLE2|PSMA3|PSMA3-AS1|PSMC6|PTGDR|PTGER2|PYGL|RN7SL1|RN7SL2|RN7SL3|RPL13AP3|RPL36AL|RPS29|RTRAF|SAMD4A|SAV1|SLC35F4|SOCS4|SOS2|STYX|TBPL2|TIMM9|TMEM260|TMX1|TOMM20L|TRIM9|TXNDC16|VCPKMT|WDHD1;Gene_count=99.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Tx=.|NM_001206673|NM_018477|NM_018229|NM_001663|NM_002892|NM_001001872|NM_014924|NM_015915|NM_001347912|NM_001164399|NM_001283056|NM_004196|NM_005192|NM_006568|NM_005776|NM_014992|NM_016651|NM_001160148|NM_014750|NM_001382509|NM_018139|NM_001382464|NM_006544|NM_017943|NM_001134999|NM_001267046|NR_037676|NR_051990|NM_001024024|NM_004124|NM_001243773|NM_198066|NM_022571|NM_001353361|NM_001284201|NM_001244189|NM_172193|NM_014315|NM_001079521|NR_027123|NM_024884|NM_144581|NM_001357678|NR_146595|NR_145423|NR_026796|NR_038358|NR_110547|NR_126498|NR_131171|NR_146549|NR_110062|NR_135241|NR_126331|NR_135258|NM_152329|NM_006575|NM_144578|NM_002408|NR_036194|NR_039726|NR_049843|NR_106724|NM_001011713|NM_004713|NM_007361|NM_020921|NM_021728|NR_029385|NM_021255|NM_002692|NM_002788|NR_029434|NM_002806|NM_000953|NM_000956|NM_002863|NR_002715|NR_027260|NR_145670|NR_004844|NM_001001|NM_001030001|NM_016039|NM_015589|NM_021818|NM_001306087|NM_080867|NM_006939|NM_001130701|NM_199047|NM_001304485|NM_017799|NM_030755|NM_207377|NM_015163|NM_020784|NM_024558|NM_007086;Tx_start=.|51338770.0|58666866.0|57735688.0|50359799.0|58765272.0|58467482.0|55833108.0|51026862.0|54416454.0|59971784.0|57936017.0|50792984.0|54863724.0|54976623.0|54890278.0|59730158.0|59104679.0|53503472.0|55614852.0|50778233.0|50091891.0|53106632.0|57667224.0|55738138.0|53323988.0|52118627.0|52116235.0|51921229.0|55308723.0|54941202.0|52327329.0|53241910.0|59927476.0|53019553.0|59951160.0|58894117.0|50159837.0|50234870.0|56046924.0|56042874.0|50709151.0|59939323.0|55595969.0|58754750.0|51771028.0|56247852.0|51800110.0|59295005.0|50448386.0|50474030.0|51858846.0|53620071.0|56981048.0|52382862.0|51288514.0|50065657.0|50885192.0|55518364.0|50087516.0|55344830.0|50766572.0|54415144.0|50433116.0|57857303.0|50248800.0|52471526.0|51186480.0|57266622.0|57279875.0|56585128.0|50110272.0|58711560.0|58732082.0|53173917.0|52734415.0|52781029.0|51371934.0|50053297.0|50329268.0|50320333.0|56232962.0|50085247.0|50037705.0|52456263.0|55033845.0|51100297.0|58030637.0|55493953.0|50583849.0|53196883.0|55880929.0|58875211.0|57046515.0|51706964.0|58862647.0|51441980.0|52897313.0|50575354.0|55405666.0;Tx_end=.|51371688.0|58702353.0|57765460.0|50363772.0|58840591.0|58618931.0|55878548.0|51099760.0|54423609.0|60043530.0|57960575.0|50863599.0|54886934.0|55006009.0|54908092.0|59838123.0|59115038.0|53620041.0|55658303.0|50794675.0|50101962.0|53162276.0|57735623.0|55820329.0|53417815.0|52197444.0|52118462.0|52066670.0|55369542.0|54955698.0|52436513.0|53258325.0|59932098.0|53104431.0|59972124.0|59018015.0|50219864.0|50253103.0|56151296.0|56046810.0|50778947.0|59951126.0|55612141.0|58755870.0|51795103.0|56263392.0|51832276.0|59484046.0|50474238.0|50571761.0|51863853.0|53624246.0|57018027.0|52385289.0|51290226.0|50081390.0|50999287.0|55536912.0|50090199.0|55344911.0|50766664.0|54415202.0|50433229.0|57882623.0|50319506.0|52535777.0|51297880.0|57277197.0|57398026.0|56768242.0|50154932.0|58738722.0|58764855.0|53195308.0|52743442.0|52795313.0|51411201.0|50053596.0|50329567.0|50320632.0|56234435.0|50087344.0|50053098.0|52477412.0|55260030.0|51135024.0|58332810.0|55516206.0|50698296.0|53241705.0|55907263.0|58894332.0|57116232.0|51724372.0|58875420.0|51562422.0|53019223.0|50583290.0|55493817.0;Overlapped_tx_length=.|32918.0|35487.0|29772.0|3973.0|75319.0|151449.0|45440.0|72898.0|7155.0|28216.0|24558.0|70615.0|23210.0|29386.0|17814.0|107965.0|10359.0|116569.0|43451.0|16442.0|10071.0|55644.0|68399.0|82191.0|93827.0|78817.0|2227.0|145441.0|60819.0|14496.0|109184.0|16415.0|4622.0|84878.0|20964.0|123898.0|60027.0|18233.0|104372.0|3936.0|69796.0|11803.0|16172.0|1120.0|24075.0|15540.0|32166.0|189041.0|25852.0|97731.0|5007.0|4175.0|36979.0|2427.0|1712.0|15733.0|114095.0|18548.0|2683.0|81.0|92.0|58.0|113.0|25320.0|70706.0|64251.0|111400.0|10575.0|118151.0|183114.0|44660.0|27162.0|32773.0|21391.0|9027.0|14284.0|39267.0|299.0|299.0|299.0|1473.0|2097.0|15393.0|21149.0|226185.0|34727.0|302173.0|22253.0|114447.0|44822.0|26334.0|19121.0|69717.0|17408.0|12773.0|120442.0|121910.0|7936.0|88151.0;Overlapped_CDS_length=.|1089.0|1254.0|1473.0|528.0|3774.0|2325.0|1479.0|1677.0|1368.0|759.0|1011.0|1074.0|639.0|999.0|435.0|3237.0|2511.0|2703.0|2541.0|603.0|2514.0|1446.0|2127.0|2136.0|2064.0|1869.0|0.0|0.0|753.0|429.0|216.0|555.0|1485.0|1338.0|978.0|4935.0|1221.0|1221.0|4074.0|0.0|1392.0|1065.0|795.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|1245.0|2541.0|738.0|1344.0|0.0|0.0|0.0|0.0|1089.0|3231.0|4128.0|6402.0|894.0|0.0|1263.0|1584.0|768.0|0.0|1170.0|1080.0|1077.0|2544.0|0.0|0.0|0.0|0.0|321.0|204.0|735.0|2157.0|1152.0|1458.0|1323.0|3999.0|672.0|1128.0|270.0|2124.0|843.0|459.0|2133.0|2478.0|690.0|3390.0;Overlapped_CDS_percent=.|100.0|100.0|100.0|15.0|100.0|100.0|100.0|100.0|100.0|31.0|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|66.0|100.0|100.0|0.0|0.0|100.0|100.0|100.0|100.0|90.0|100.0|100.0|100.0|100.0|100.0|100.0|0.0|100.0|100.0|100.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|100.0|100.0|100.0|60.0|0.0|0.0|0.0|0.0|100.0|100.0|100.0|100.0|100.0|0.0|100.0|100.0|100.0|0.0|100.0|100.0|100.0|100.0|0.0|0.0|0.0|0.0|89.0|100.0|100.0|100.0|100.0|100.0|20.0|100.0|100.0|100.0|100.0|100.0|100.0|100.0|100.0|100.0|100.0|100.0;Frameshift=.|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|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=.|13.0|13.0|8.0|2.0|24.0|8.0|10.0|14.0|4.0|20.0|7.0|10.0|8.0|6.0|5.0|25.0|4.0|13.0|19.0|5.0|3.0|17.0|18.0|2.0|16.0|14.0|1.0|3.0|7.0|7.0|4.0|6.0|1.0|8.0|7.0|34.0|13.0|13.0|44.0|3.0|10.0|5.0|7.0|1.0|2.0|4.0|5.0|6.0|4.0|9.0|4.0|3.0|2.0|3.0|2.0|4.0|32.0|4.0|1.0|1.0|1.0|1.0|1.0|5.0|33.0|22.0|31.0|5.0|4.0|6.0|19.0|11.0|5.0|14.0|2.0|2.0|20.0|1.0|1.0|1.0|1.0|2.0|3.0|8.0|13.0|5.0|8.0|2.0|23.0|12.0|7.0|5.0|16.0|8.0|5.0|10.0|21.0|6.0|26.0;Location=.|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|intron13-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|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=.|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|CDS-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|UTR|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|5'UTR-3'UTR|5'UTR-3'UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|UTR|UTR|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|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|UTR|UTR|UTR|UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|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;Dist_nearest_SS=.|.|.|.|.|.|.|.|.|.|1372.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Nearest_SS_type=.|.|.|.|.|.|.|.|.|.|3'|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Intersect_start=.|51338770.0|58666866.0|57735688.0|50359799.0|58765272.0|58467482.0|55833108.0|51026862.0|54416454.0|59971784.0|57936017.0|50792984.0|54863724.0|54976623.0|54890278.0|59730158.0|59104679.0|53503472.0|55614852.0|50778233.0|50091891.0|53106632.0|57667224.0|55738138.0|53323988.0|52118627.0|52116235.0|51921229.0|55308723.0|54941202.0|52327329.0|53241910.0|59927476.0|53019553.0|59951160.0|58894117.0|50159837.0|50234870.0|56046924.0|56042874.0|50709151.0|59939323.0|55595969.0|58754750.0|51771028.0|56247852.0|51800110.0|59295005.0|50448386.0|50474030.0|51858846.0|53620071.0|56981048.0|52382862.0|51288514.0|50065657.0|50885192.0|55518364.0|50087516.0|55344830.0|50766572.0|54415144.0|50433116.0|57857303.0|50248800.0|52471526.0|51186480.0|57266622.0|57279875.0|56585128.0|50110272.0|58711560.0|58732082.0|53173917.0|52734415.0|52781029.0|51371934.0|50053297.0|50329268.0|50320333.0|56232962.0|50085247.0|50037705.0|52456263.0|55033845.0|51100297.0|58030637.0|55493953.0|50583849.0|53196883.0|55880929.0|58875211.0|57046515.0|51706964.0|58862647.0|51441980.0|52897313.0|50575354.0|55405666.0;Intersect_end=.|51371688.0|58702353.0|57765460.0|50363772.0|58840591.0|58618931.0|55878548.0|51099760.0|54423609.0|60000000.0|57960575.0|50863599.0|54886934.0|55006009.0|54908092.0|59838123.0|59115038.0|53620041.0|55658303.0|50794675.0|50101962.0|53162276.0|57735623.0|55820329.0|53417815.0|52197444.0|52118462.0|52066670.0|55369542.0|54955698.0|52436513.0|53258325.0|59932098.0|53104431.0|59972124.0|59018015.0|50219864.0|50253103.0|56151296.0|56046810.0|50778947.0|59951126.0|55612141.0|58755870.0|51795103.0|56263392.0|51832276.0|59484046.0|50474238.0|50571761.0|51863853.0|53624246.0|57018027.0|52385289.0|51290226.0|50081390.0|50999287.0|55536912.0|50090199.0|55344911.0|50766664.0|54415202.0|50433229.0|57882623.0|50319506.0|52535777.0|51297880.0|57277197.0|57398026.0|56768242.0|50154932.0|58738722.0|58764855.0|53195308.0|52743442.0|52795313.0|51411201.0|50053596.0|50329567.0|50320632.0|56234435.0|50087344.0|50053098.0|52477412.0|55260030.0|51135024.0|58332810.0|55516206.0|50698296.0|53241705.0|55907263.0|58894332.0|57116232.0|51724372.0|58875420.0|51562422.0|53019223.0|50583290.0|55493817.0;RE_gene=ADAM22_(morbid/RE=mTL_miRNA),ADAR_(morbid/RE=mTL_miRNA),AGO2_(morbid/RE=mTL_miRNA),AGPS_(morbid/RE=mTL_miRNA),ANG_(morbid/RE=mTL_miRNA),AP1S2_(HI=3/morbid/RE=mTL_miRNA),ARSA_(morbid/RE=mTL_miRNA),ATP7A_(HI=3/morbid/RE=mTL_miRNA),ATXN1_(morbid/RE=mTL_miRNA),ATXN3_(morbid/RE=mTL_miRNA),BACH1_(morbid/RE=mTL_miRNA),BACH2_(morbid/RE=mTL_miRNA),CACNA1B_(morbid/RE=mTL_miRNA),CALM2_(morbid/RE=mTL_miRNA),CDC73_(HI=3/morbid/RE=mTL_miRNA),CFL2_(morbid/RE=mTL_miRNA),CLCN7_(morbid/RE=mTL_miRNA),CNKSR2_(HI=3/morbid/RE=mTL_miRNA),COCH_(morbid/RE=mTL_miRNA),COL4A1_(morbid/RE=mTL_miRNA),CYCS_(morbid/RE=mTL_miRNA),CYLD_(HI=3/morbid/RE=mTL_miRNA),DCAF17_(morbid/RE=mTL_miRNA),DDX11_(morbid/RE=mTL_miRNA),DPM2_(morbid/RE=mTL_miRNA),EIF2B1_(morbid/RE=mTL_miRNA),EXOC7_(morbid/RE=mTL_miRNA),FOXG1_(HI=3/morbid/RE=mTL_miRNA),FREM2_(morbid/RE=mTL_miRNA),GATA6_(HI=3/morbid/RE=mTL_miRNA),GCK_(morbid/RE=mTL_miRNA),GFRA1_(morbid/RE=mTL_miRNA),GTPBP2_(morbid/RE=mTL_miRNA),HID1_(morbid/RE=mTL_miRNA),HOXA13_(morbid/RE=mTL_miRNA),IDS_(HI=3/morbid/RE=mTL_miRNA),IKBKG_(HI=3/morbid/RE=mTL_miRNA),IL21R_(morbid/RE=mTL_miRNA),IRAK4_(morbid/RE=mTL_miRNA),IREB2_(morbid/RE=mTL_miRNA),ITPA_(morbid/RE=mTL_miRNA),KAT6A_(HI=3/morbid/RE=mTL_miRNA),KCNB1_(morbid/RE=mTL_miRNA),KCNJ6_(morbid/RE=mTL_miRNA),KDM6B_(morbid/RE=mTL_miRNA),KIT_(morbid/RE=mTL_miRNA),KLHL15_(morbid/RE=mTL_miRNA),L1CAM_(HI=3/morbid/RE=mTL_miRNA),MAPK8IP3_(morbid/RE=mTL_miRNA),MED13_(morbid/RE=mTL_miRNA),MFF_(morbid/RE=mTL_miRNA),MMADHC_(morbid/RE=mTL_miRNA),MPZ_(morbid/RE=mTL_miRNA),MYPN_(morbid/RE=mTL_miRNA),NCAPG2_(morbid/RE=mTL_miRNA),NCKAP1L_(morbid/RE=mTL_miRNA),NDUFA12_(morbid/RE=mTL_miRNA),NDUFS1_(morbid/RE=mTL_miRNA),NEXMIF_(HI=3/morbid/RE=mTL_miRNA),NFIX_(HI=3/morbid/RE=mTL_miRNA),NHLRC2_(morbid/RE=mTL_miRNA),NHS_(HI=3/morbid/RE=mTL_miRNA),NIPA1_(morbid/RE=mTL_miRNA),NR3C1_(morbid/RE=mTL_miRNA),OPA3_(morbid/RE=mTL_miRNA),P4HB_(morbid/RE=mTL_miRNA),PACS2_(morbid/RE=mTL_miRNA),PCGF2_(morbid/RE=mTL_miRNA),PDE3A_(morbid/RE=mTL_miRNA),PEX26_(morbid/RE=mTL_miRNA),PHEX_(HI=3/morbid/RE=mTL_miRNA),PIGQ_(morbid/RE=mTL_miRNA),PIK3CG_(morbid/RE=mTL_miRNA),PIK3R1_(morbid/RE=mTL_miRNA),PNP_(morbid/RE=mTL_miRNA),PRDX3_(morbid/RE=mTL_miRNA),PRR12_(morbid/RE=mTL_miRNA),PTPN14_(morbid/RE=mTL_miRNA),PURA_(HI=3/morbid/RE=mTL_miRNA),RAI1_(HI=3/morbid/RE=mTL_miRNA),RFT1_(morbid/RE=mTL_miRNA),RORA_(morbid/RE=mTL_miRNA),RPS14_(morbid/RE=mTL_miRNA),RPS28_(morbid/RE=mTL_miRNA),RRAS2_(morbid/RE=mTL_miRNA),RUNX1_(HI=3/morbid/RE=mTL_miRNA),SASH1_(morbid/RE=mTL_miRNA),SDHAF2_(HI=3/morbid/RE=mTL_miRNA),SERPINH1_(morbid/RE=mTL_miRNA),SH3TC2_(morbid/RE=mTL_miRNA),SLC12A2_(morbid/RE=mTL_miRNA),SLC25A12_(morbid/RE=mTL_miRNA),SOX5_(HI=3/morbid/RE=mTL_miRNA),SPPL2A_(morbid/RE=mTL_miRNA),SRP54_(morbid/RE=mTL_miRNA),SRP72_(morbid/RE=mTL_miRNA),TCF3_(morbid/RE=mTL_miRNA),TEAD1_(morbid/RE=mTL_miRNA),THSD4_(morbid/RE=mTL_miRNA),TIMM8A_(HI=3/morbid/RE=mTL_miRNA),TMEM94_(morbid/RE=mTL_miRNA),UBE2A_(HI=3/morbid/RE=mTL_miRNA),UNG_(morbid/RE=mTL_miRNA),WNK1_(morbid/RE=mTL_miRNA),ZBTB16_(morbid/RE=mTL_miRNA),ZBTB20_(morbid/RE=mTL_miRNA),ZMYM2_(morbid/RE=mTL_miRNA)|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_gain_phen=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_gain_hpo=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_gain_source=dbVar:nssv16214425|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|dbVar:nssv16214425|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_gain_coord=14:58915038-58917484|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|14:58915038-58917484|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_loss_phen=Ciliary_dyskinesia,_primary,_10,_612518_(3)_AR,Congenital_disorder_of_glycosylation,_type_IIa,_212066_(3)_AR,Diamond-Blackfan_anemia_13,_615909_(3)_AD,Dystonia,_DOPA-responsive,_with_or_without_hyperphenylalaninemia,_128230_(3)_AR,AD,Hyperphenylalaninemia,_BH4-deficient,_B,_233910_(3)_AR,Glycogen_storage_disease_VI,_232700_(3)_AR,Intellectual_developmental_disorder_with_speech_delay_and_axonal_peripheral_neuropathy,_619099_(3)_AR,Joubert_syndrome_23,_616490_(3)_AR,Short-rib_thoracic_dysplasia_14_with_polydactyly,_616546_(3)_AR,L-2-hydroxyglutaric_aciduria,_236792_(3)_AR,L-2-hydroxyglutaric_aciduria,Microphthalmia,_syndromic_5,_610125_(3)_AD,Pituitary_hormone_deficiency,_combined,_6,_613986_(3)_AD,Retinal_dystrophy,_early-onset,_with_or_without_pituitary_dysfunction,_610125_(3)_AD,Microphthalmia,_syndromic_6,_607932_(3)_AD,Orofacial_cleft_11,_600625_(3),Neuropathy,_hereditary_sensory,_type_ID,_613708_(3)_AD,Spastic_paraplegia_3A,_AD,_182600_(3)_AD,Noonan_syndrome_9,_616559_(3)_AD,Spastic_paraplegia_28,_AR,_609340_(3)_AR,Structural_heart_defects_and_renal_anomalies_syndrome,_617478_(3)_AR|.|.|.|.|.|.|.|Neuropathy,_hereditary_sensory,_type_ID,_613708_(3)_AD,Spastic_paraplegia_3A,_AD,_182600_(3)_AD|Microphthalmia,_syndromic_6,_607932_(3)_AD,Orofacial_cleft_11,_600625_(3)|.|.|.|.|.|.|.|.|Spastic_paraplegia_28,_AR,_609340_(3)_AR|.|.|Ciliary_dyskinesia,_primary,_10,_612518_(3)_AR|.|.|.|.|.|.|.|Dystonia,_DOPA-responsive,_with_or_without_hyperphenylalaninemia,_128230_(3)_AR,AD,Hyperphenylalaninemia,_BH4-deficient,_B,_233910_(3)_AR|.|.|.|.|.|.|Joubert_syndrome_23,_616490_(3)_AR,Short-rib_thoracic_dysplasia_14_with_polydactyly,_616546_(3)_AR|.|.|.|.|L-2-hydroxyglutaric_aciduria,_236792_(3)_AR,L-2-hydroxyglutaric_aciduria|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|Congenital_disorder_of_glycosylation,_type_IIa,_212066_(3)_AR|.|.|.|.|.|.|.|.|Microphthalmia,_syndromic_5,_610125_(3)_AD,Pituitary_hormone_deficiency,_combined,_6,_613986_(3)_AD,Retinal_dystrophy,_early-onset,_with_or_without_pituitary_dysfunction,_610125_(3)_AD|.|.|.|.|.|.|.|.|Glycogen_storage_disease_VI,_232700_(3)_AR|.|.|.|.|.|Diamond-Blackfan_anemia_13,_615909_(3)_AD|.|.|.|.|.|Noonan_syndrome_9,_616559_(3)_AD|.|.|.|Structural_heart_defects_and_renal_anomalies_syndrome,_617478_(3)_AR|.|.|.|.|.|.;P_loss_hpo=HP:0040144|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|HP:0040144|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_loss_source=CLN:961873,HI3:GCH1,HI3:OTX2,dbVar:nssv15119827,dbVar:nssv15120098,dbVar:nssv15120311,dbVar:nssv15121702,dbVar:nssv15128380,dbVar:nssv15128599,dbVar:nssv15129157,dbVar:nssv15130232,dbVar:nssv15140525,dbVar:nssv15144361,dbVar:nssv15151139,dbVar:nssv15154703,dbVar:nssv15161258,dbVar:nssv15770306,dbVar:nssv15770493,dbVar:nssv15770946,dbVar:nssv15774967,dbVar:nssv15776710,dbVar:nssv16208390,dbVar:nssv16208391,dbVar:nssv16208392,dbVar:nssv16212216,dbVar:nssv16212338,dbVar:nssv16212456,dbVar:nssv16213673,dbVar:nssv16213702,dbVar:nssv16213818,dbVar:nssv16297058,dbVar:nssv17171365,dbVar:nssv17172640,dbVar:nssv17172653,dbVar:nssv17172654,dbVar:nssv17955973,dbVar:nssv17957196,dbVar:nssv17968726,dbVar:nssv17968727,dbVar:nssv17969640,dbVar:nssv17970792,dbVar:nssv17970971,dbVar:nssv17972065,dbVar:nssv17972699,morbid:ATL1,morbid:BMP4,morbid:DDHD1,morbid:DNAAF2,morbid:GCH1,morbid:KIAA0586,morbid:L2HGDH,morbid:MGAT2,morbid:NEMF,morbid:OTX2,morbid:PYGL,morbid:RPS29,morbid:SOS2,morbid:TMEM260|.|.|.|.|.|.|.|dbVar:nssv16212338,dbVar:nssv16213673,morbid:ATL1|morbid:BMP4|.|.|.|.|.|.|.|.|morbid:DDHD1|.|dbVar:nssv17172640|morbid:DNAAF2|.|.|.|.|.|.|.|HI3:GCH1,dbVar:nssv15129157,dbVar:nssv15130232,dbVar:nssv15770493,dbVar:nssv15774967,dbVar:nssv16212216,dbVar:nssv16212456,dbVar:nssv17172653,dbVar:nssv17172654,dbVar:nssv17968726,dbVar:nssv17968727,dbVar:nssv17972065|.|.|.|.|.|.|dbVar:nssv15144361,morbid:KIAA0586|.|.|.|.|CLN:961873,dbVar:nssv16213818,dbVar:nssv17172640,morbid:L2HGDH|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|morbid:MGAT2|.|.|.|.|.|.|.|.|HI3:OTX2,dbVar:nssv15770306,dbVar:nssv15770946,dbVar:nssv17972699,morbid:OTX2|.|.|.|.|.|.|.|.|dbVar:nssv15161258,dbVar:nssv16213702,dbVar:nssv17171365,morbid:PYGL|.|.|.|.|.|morbid:RPS29|.|.|.|.|.|morbid:SOS2|.|.|.|dbVar:nssv17955973,morbid:TMEM260|.|.|.|.|.|.;P_loss_coord=14:50050294-50053098,14:50087516-50090199,14:50091891-50101962,14:50250238-50319921,14:50466718-50713972,14:50583849-50698296,14:50709151-50778947,14:50731868-50732221,14:50734451-50736068,14:50778709-50778888,14:51026862-51099760,14:51026974-51099067,14:51057649-51099067,14:51057729-56753637,14:51152773-51216251,14:51371934-51411201,14:51372090-51411141,14:51376593-51379041,14:51378444-51378447,14:52011564-55787316,14:53241194-55803026,14:53503472-53620041,14:53820659-55003253,14:54250363-55362006,14:54416454-54423609,14:54416750-55369403,14:55308723-55369542,14:55308734-55369544,14:55310735-55313868,14:55312466-55313868,14:55313807-55313858,14:55326389-55332164,14:55329585-55355031,14:55332025-55332174,14:55332035-55332164,14:55332039-55369387,14:55343414-55414889,14:55369019-55369381,14:55369019-55369401,14:55369029-55369420,14:55615073-58043694,14:56559797-58063452,14:56605398-59404256,14:57046515-57116232,14:57048950-57053841,14:57126229-57336190,14:57130786-57577796,14:57266622-57277197,14:57267425-57277194,14:57268433-57269093,14:57268433-57271101,14:57268453-57272174,14:58711639-59014694,14:58737402-58884615,14:58737402-58891576,14:58906398-59003931,14:58910652-58917484,14:59147175-59860886|.|.|.|.|.|.|.|14:51026862-51099760,14:51026974-51099067,14:51057649-51099067|14:54416454-54423609|.|.|.|.|.|.|.|.|14:53503472-53620041|.|14:50778709-50778888|14:50091891-50101962|.|.|.|.|.|.|.|14:55308723-55369542,14:55310735-55313868,14:55312466-55313868,14:55313807-55313858,14:55326389-55332164,14:55329585-55355031,14:55332025-55332174,14:55332035-55332164,14:55332039-55369387,14:55369019-55369381,14:55369019-55369401,14:55369029-55369420|.|.|.|.|.|.|14:58906398-59003931,14:58910652-58917484|.|.|.|.|14:50709151-50778947,14:50731868-50732221,14:50734451-50736068,14:50778709-50778888|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|14:50087516-50090199|.|.|.|.|.|.|.|.|14:57266622-57277197,14:57267425-57277194,14:57268433-57269093,14:57268433-57271101,14:57268453-57272174|.|.|.|.|.|.|.|.|14:51371934-51411201,14:51372090-51411141,14:51376593-51379041,14:51378444-51378447|.|.|.|.|.|14:50050294-50053098|.|.|.|.|.|14:50583849-50698296|.|.|.|14:57046515-57116232,14:57048950-57053841|.|.|.|.|.|.;P_ins_phen=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_ins_hpo=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_ins_source=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_ins_coord=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_phen=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_hpo=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_source=dbVar:nssv15137747,dbVar:nssv15161067,dbVar:nssv15161107,nssv15161424,dbVar:nssv15161629,dbVar:nssv15161908,dbVar:nssv15162475,dbVar:nssv15162476,dbVar:nssv17517489|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_coord=14:19000422-107289053,14:19280733-107287663,14:19327823-107287663,14:19794561-107234280,14:20511673-107285437,14:20619308-107263478,14:39665376-57181179,14:54654001-75828024|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_percent=11.33,11.36,11.37,11.44,11.52,11.54,25.25,41.00|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_phen=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_hpo=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_source=dbVar:nssv15126984,dbVar:nssv15146256,dbVar:nssv15146257,dbVar:nssv15147456,dbVar:nssv17976070|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_coord=14:21162263-50713602,14:57507754-67674948,14:58120131-64560246,14:58612740-61740337,14:59073273-61983038|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_percent=2.41,24.51,29.19,31.85,44.36|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_snvindel_nb=223.0|.|.|.|.|.|.|.|31.0|2.0|.|.|.|.|.|.|.|.|8.0|.|1.0|13.0|.|.|.|.|.|.|.|45.0|.|.|.|.|.|.|52.0|.|.|.|.|15.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|4.0|.|1.0|17.0|.|.|.|.|.|.|.|.|22.0|.|.|.|.|.|.|.|.|.|.|.|6.0|.|.|.|7.0|.|.|.|.|.|.;P_snvindel_phen=Anophthalmia-microphthalmia_syndrome,Autosomal_recessive_DOPA_responsive_dystonia,Charcot-Marie-Tooth_disease,Congenital_cerebellar_hypoplasia,Distal_lower_limb_muscle_weakness,Distal_sensory_impairment,Dystonia_5,GTP_cyclohydrolase_I_deficiency,Glycogen_storage_disease,_type_VI,Hereditary_spastic_paraplegia,Hereditary_spastic_paraplegia_28,Hereditary_spastic_paraplegia_3A,Inborn_genetic_diseases,Intellectual_developmental_disorder_with_speech_delay_and_axonal_peripheral_neuropathy,Intellectual_disability,Joubert_syndrome,Joubert_syndrome_23,Joubert_syndrome_and_related_disorders,L-2-hydroxyglutaric_aciduria,Leber_congenital_amaurosis,Microphthalmia_with_brain_and_digit_anomalies,Neurodevelopmental_disorder,Neuropathy,_hereditary_sensory,_type_1D,Noonan_syndrome,Noonan_syndrome_9,Orofacial_cleft_11,Osteomyelitis_leading_to_amputation_due_to_slow_healing_fractures,Penetrating_foot_ulcers,Primary_ciliary_dyskinesia,Primary_ciliary_dyskinesia_10,RASopathy,Retinal_dystrophy,Rod-cone_dystrophy,Seckel_syndrome_7,Short-rib_thoracic_dysplasia_14_with_polydactyly,Spastic_paraplegia,Structural_heart_defects_and_renal_anomalies_syndrome,Syndromic_microphthalmia_type_5,Type_I_truncus_arteriosus|.|.|.|.|.|.|.|Charcot-Marie-Tooth_disease,Distal_lower_limb_muscle_weakness,Distal_sensory_impairment,Hereditary_spastic_paraplegia,Hereditary_spastic_paraplegia_3A,Inborn_genetic_diseases,Neuropathy,_hereditary_sensory,_type_1D,Osteomyelitis_leading_to_amputation_due_to_slow_healing_fractures,Penetrating_foot_ulcers,Spastic_paraplegia|Inborn_genetic_diseases,Microphthalmia_with_brain_and_digit_anomalies,Orofacial_cleft_11|.|.|.|.|.|.|.|.|Hereditary_spastic_paraplegia,Hereditary_spastic_paraplegia_28|.|L-2-hydroxyglutaric_aciduria|Primary_ciliary_dyskinesia,Primary_ciliary_dyskinesia_10|.|.|.|.|.|.|.|Autosomal_recessive_DOPA_responsive_dystonia,Dystonia_5,GTP_cyclohydrolase_I_deficiency,Inborn_genetic_diseases|.|.|.|.|.|.|Congenital_cerebellar_hypoplasia,Intellectual_disability,Joubert_syndrome,Joubert_syndrome_23,Joubert_syndrome_and_related_disorders,Neurodevelopmental_disorder,Retinal_dystrophy,Rod-cone_dystrophy,Short-rib_thoracic_dysplasia_14_with_polydactyly|.|.|.|.|L-2-hydroxyglutaric_aciduria|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|Intellectual_developmental_disorder_with_speech_delay_and_axonal_peripheral_neuropathy|.|Seckel_syndrome_7|Anophthalmia-microphthalmia_syndrome,Inborn_genetic_diseases,Leber_congenital_amaurosis,Syndromic_microphthalmia_type_5|.|.|.|.|.|.|.|.|Glycogen_storage_disease,_type_VI|.|.|.|.|.|.|.|.|.|.|.|Noonan_syndrome,Noonan_syndrome_9,RASopathy|.|.|.|Structural_heart_defects_and_renal_anomalies_syndrome,Type_I_truncus_arteriosus|.|.|.|.|.|.;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=1000g,1000g,CMRI:0_pbsv.INS.DUP.400,gnomAD-SV_v2.1_DUP_14_38433,1000g,gnomAD-SV_v2.1_DUP_14_38437,1000g,1000g,1000g,1000g,1000g,1000g,1000g,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38463,CMRI:57_pbsv.INS.DUP.471,1000g,gnomAD-SV_v2.1_DUP_14_38465,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38468,1000g,CMRI:9_pbsv.INS.DUP.472_duplicate1,CMRI:0_pbsv.INS.DUP.427,1000g,1000g,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38491,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38496,1000g,gnomAD-SV_v2.1_DUP_14_38503,1000g,1000g,1000g,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38517,CMRI:2_pbsv.INS.DUP.615,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38528,gnomAD-SV_v2.1_DUP_14_38531,1000g,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38536,CMRI:3_pbsv.INS.DUP.782,gnomAD-SV_v2.1_DUP_14_38538,gnomAD-SV_v2.1_DUP_14_38547,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38551,CMRI:5_pbsv.INS.DUP.557_duplicate1,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38555,CMRI:27_pbsv.INS.DUP.516_duplicate1,gnomAD-SV_v2.1_DUP_14_38557,1000g|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_gain_someG_coord=14:50000951-50000952,14:50118870-50119027,14:50192076-50192362,14:50224287-50224391,14:50255846-50255847,14:50322528-50322599,14:51184954-51184955,14:51432094-51432095,14:51719000-51719001,14:51810747-51810748,14:52135887-52135888,14:52136577-52136578,14:52404332-52404457,14:52488926-52488927,14:52561836-52561837,14:52589990-52590144,14:52585047-52585123,14:52594665-52594980,14:52608487-52608563,14:52643767-52643768,14:52667767-52667768,14:52690525-52690591,14:52756782-52757113,14:52992254-52992420,14:53304082-53304136,14:53778127-53778128,14:53800170-53800171,14:54317689-54317690,14:54564051-54564385,14:54812678-54812753,14:54815743-54815744,14:54923985-54923986,14:55145195-55145325,14:55637056-55637057,14:55760330-55763812,14:55795871-55795872,14:56377908-56377909,14:56430912-56430913,14:56437925-56437926,14:56606684-56606685,14:56666859-56667030,14:56666861-56667029,14:57256784-57256785,14:57508006-57508007,14:57625816-57625887,14:57729410-57729478,14:57744450-57744451,14:58022792-58022793,14:58108037-58108038,14:58450864-58450940,14:58450866-58450939,14:58499999-58505000,14:59001932-59002011,14:59160899-59160900,14:59220402-59220403,14:59294822-59294882,14:59294824-59294879,14:59522426-59522427,14:59710037-59710038,14:59831413-59831485,14:59831656-59831716,14:59846444-59846514,14:59894370-59894371|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_loss_allG_source=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_loss_allG_coord=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_loss_someG_source=gnomAD-SV_v2.1_DEL_14_142370,gnomAD-SV_v2.1_DEL_14_142371,CMRI:3_pbsv.DEL.635_duplicate4,CMRI:2_pbsv.DEL.523_duplicate6,1000g,gnomAD-SV_v2.1_DEL_14_142375,DDD:42831,CMRI:0_pbsv.DEL.398_duplicate1,CMRI:0_pbsv.DEL.402_duplicate2,gnomAD-SV_v2.1_DEL_14_142386,gnomAD-SV_v2.1_DEL_14_142388,esv2670369,gnomAD-SV_v2.1_DEL_14_142394,CMRI:0_pbsv.DEL.406_duplicate3,DDD:42843,DDD:42851,DDD:42853,1000g,gnomAD-SV_v2.1_DEL_14_142429,CMRI:31_pbsv.DEL.485_duplicate6,CMRI:0_pbsv.DEL.409_duplicate3,1000g,esv3634494,gnomAD-SV_v2.1_DEL_14_142442,CMRI:2_pbsv.DEL.542_duplicate4,gnomAD-SV_v2.1_DEL_14_142444,gnomAD-SV_v2.1_DEL_14_142447,CMRI:50_pbsv.DEL.386_duplicate1,gnomAD-SV_v2.1_DEL_14_142448,CMRI:4_pbsv.DEL.666_duplicate6,gnomAD-SV_v2.1_DEL_14_142449,CMRI:5_pbsv.DEL.475_duplicate4,CMRI:33_pbsv.DEL.435_duplicate6,gnomAD-SV_v2.1_DEL_14_142468,CMRI:4_pbsv.DEL.682_duplicate9,dgv639e212,1000g,esv3634509,gnomAD-SV_v2.1_DEL_14_142474,DDD:42866,esv2670027,CMRI:12_pbsv.DEL.517_duplicate5,gnomAD-SV_v2.1_DEL_14_142477,1000g,esv2675664,gnomAD-SV_v2.1_DEL_14_142479,CMRI:11_pbsv.DEL.690_duplicate4,esv3581206,gnomAD-SV_v2.1_DEL_14_142490,1000g,esv2658289,CMRI:0_pbsv.DEL.422_duplicate1,gnomAD-SV_v2.1_DEL_14_142493,gnomAD-SV_v2.1_DEL_14_142504,1000g,esv2661497,CMRI:11_pbsv.DEL.697_duplicate3,gnomAD-SV_v2.1_DEL_14_142509,gnomAD-SV_v2.1_DEL_14_142516,DDD:42872,CMRI:44_pbsv.DEL.478_duplicate5,CMRI:69_pbsv.DEL.603_duplicate6,1000g,gnomAD-SV_v2.1_DEL_14_142521,gnomAD-SV_v2.1_DEL_14_142528,DDD:42879,esv2677927,gnomAD-SV_v2.1_DEL_14_142532,1000g,esv3634528,CMRI:186_pbsv.DEL.546_duplicate1,1000g,DDD:42882,gnomAD-SV_v2.1_DEL_14_142567,gnomAD-SV_v2.1_DEL_14_142591,gnomAD-SV_v2.1_DEL_14_142595,gnomAD-SV_v2.1_DEL_14_142598,CMRI:28_pbsv.DEL.666_duplicate7,gnomAD-SV_v2.1_DEL_14_142610,1000g,gnomAD-SV_v2.1_DEL_14_142616,CMRI:0_pbsv.DEL.438_duplicate1,CMRI:6_pbsv.DEL.694_duplicate6,CMRI:39_pbsv.DEL.569_duplicate4,CMRI:39_pbsv.DEL.570_duplicate8,dgv397e199,DDD:42892,gnomAD-SV_v2.1_DEL_14_142622,1000g,esv3634554,CMRI:6_pbsv.DEL.699_duplicate6,CMRI:1_pbsv.DEL.441_duplicate9,CMRI:1_pbsv.DEL.448_duplicate9,CMRI:3_pbsv.DEL.724_duplicate4,gnomAD-SV_v2.1_DEL_14_142655,DDD:42904,gnomAD-SV_v2.1_DEL_14_142657,1000g,esv3634576,DDD:42907,esv2657596,gnomAD-SV_v2.1_DEL_14_142682,CMRI:13_pbsv.DEL.633_duplicate8,gnomAD-SV_v2.1_DEL_14_142687,CMRI:53_pbsv.DEL.607_duplicate7,DDD:42908,CMRI:6_pbsv.DEL.729_duplicate5,DDD:42911,DDD:42913,CMRI:4_pbsv.DEL.752_duplicate9,gnomAD-SV_v2.1_DEL_14_142710,1000g,gnomAD-SV_v2.1_DEL_14_142711,gnomAD-SV_v2.1_DEL_14_142729,CMRI:4_pbsv.DEL.761_duplicate5,CMRI:11_pbsv.DEL.792_duplicate6,esv2676142,DDD:42922,1000g,gnomAD-SV_v2.1_DEL_14_142740,CMRI:5_pbsv.DEL.539_duplicate7,CMRI:0_pbsv.DEL.463_duplicate3,gnomAD-SV_v2.1_DEL_14_142744,CMRI:1_pbsv.DEL.468_duplicate8,gnomAD-SV_v2.1_DEL_14_142748,gnomAD-SV_v2.1_DEL_14_142750,1000g,gnomAD-SV_v2.1_DEL_14_142768,DDD:42928,1000g,esv3634604,DDD:42929,gnomAD-SV_v2.1_DEL_14_142771,1000g,DDD:42935,CMRI:31_pbsv.DEL.581_duplicate10,1000g,esv3634613,DDD:42942,gnomAD-SV_v2.1_DEL_14_142808,gnomAD-SV_v2.1_DEL_14_142810,1000g,1000g,CMRI:119_pbsv.DEL.583_duplicate6,1000g,gnomAD-SV_v2.1_DEL_14_142816,gnomAD-SV_v2.1_DEL_14_142823,1000g,CMRI:3_pbsv.DEL.789_duplicate7,gnomAD-SV_v2.1_DEL_14_142852,CMRI:1_pbsv.DEL.485_duplicate6,CMRI:5_pbsv.DEL.559_duplicate6,CMRI:73_pbsv.DEL.608_duplicate2,CMRI:1_pbsv.DEL.487_duplicate9,CMRI:6_pbsv.DEL.767_duplicate8,CMRI:0_pbsv.DEL.481_duplicate3,esv2666152,gnomAD-SV_v2.1_DEL_14_142869,CMRI:0_pbsv.DEL.484_duplicate1,esv2669266,gnomAD-SV_v2.1_DEL_14_142870,CMRI:0_pbsv.DEL.485_duplicate5,CMRI:7_pbsv.DEL.558_duplicate2,gnomAD-SV_v2.1_DEL_14_142893,gnomAD-SV_v2.1_DEL_14_142894,CMRI:0_pbsv.DEL.488_duplicate3,CMRI:2_pbsv.DEL.650_duplicate6,DDD:42836,dgv637e212,esv2670707,DDD:42900,DDD:42903,DDD:42905,DDD:42906,DDD:42918,gnomAD-SV_v2.1_DEL_14_142728,CMRI:80_pbsv.DEL.582_duplicate5,CMRI:90_pbsv.DEL.578_duplicate4,DDD:42933,gnomAD-SV_v2.1_DEL_14_142788,gnomAD-SV_v2.1_DEL_14_142801,gnomAD-SV_v2.1_DEL_14_142871,CMRI:31_pbsv.DEL.598_duplicate6,gnomAD-SV_v2.1_DEL_14_142890,gnomAD-SV_v2.1_DEL_14_142892,1000g,esv3634648,CMRI:3_pbsv.DEL.801_duplicate5|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_loss_someG_coord=14:50000950-50001091,14:50003261-50003354,14:50000947-50001076,14:50003262-50003352,14:50118870-50119027,14:50118886-50119027,14:50120746-50121065,14:50118870-50119027,14:50287692-50288220,14:50339999-50345000,14:50369734-50370341,14:50540119-50541658,14:50540134-50541658,14:50540119-50541658,14:50825138-50827390,14:51031165-51034909,14:51090731-51091751,14:51090731-51091771,14:51090749-51091751,14:51090731-51091751,14:51363292-51363349,14:51408908-51409542,14:51408908-51409542,14:51409034-51409545,14:51408899-51409530,14:51519967-51520531,14:51590331-51590396,14:51590331-51590396,14:51601413-51601713,14:51601405-51601707,14:51610963-51611014,14:51610947-51611011,14:51705427-51705481,14:52161477-52161902,14:52161628-52161902,14:52268751-52275328,14:52378334-52378897,14:52378334-52378897,14:52378342-52378902,14:52378343-52378902,14:52378343-52378902,14:52378343-52378902,14:52398257-52398969,14:52404332-52404457,14:52404332-52404457,14:52404344-52404792,14:52404332-52404457,14:52433297-52435495,14:52594563-52594980,14:52594665-52594980,14:52594665-52594980,14:52594665-52594980,14:52642916-52643753,14:52756678-52757113,14:52756782-52757113,14:52756782-52757113,14:52756782-52757113,14:52833328-52833507,14:52973246-52973591,14:52975738-52976325,14:52973234-52973573,14:52996244-52996294,14:53026218-53031643,14:53026227-53031652,14:53172775-53173318,14:53252466-53255079,14:53252466-53255079,14:53252466-53255079,14:53252466-53255095,14:53252466-53255095,14:53317367-53317789,14:53709250-53710874,14:53709317-53710944,14:53709333-53710990,14:54143560-54143644,14:54230296-54230875,14:54242560-54242711,14:54361832-54361910,14:54434707-54435261,14:54564051-54564385,14:54564065-54564385,14:54564051-54564385,14:54669779-54669895,14:54670550-54670727,14:54670673-54670849,14:54710195-54713685,14:54710346-54713685,14:54710348-54713685,14:54710363-54713688,14:54710363-54713688,14:54710346-54713685,14:54790414-54790486,14:55347348-55347456,14:55347396-55347477,14:55363552-55363648,14:55364169-55366756,14:55382239-55382299,14:55751164-55752029,14:55751164-55752029,14:55751184-55752042,14:55751184-55752042,14:55751222-55752020,14:55751184-55752042,14:55785064-55785115,14:55798393-55798463,14:55811665-55812371,14:55956507-55956572,14:56046734-56047098,14:56047022-56047099,14:56113184-56113243,14:56195041-56195639,14:56202421-56205828,14:56202425-56205827,14:56459753-56461550,14:56459779-56461550,14:56522910-56522991,14:56584345-56586892,14:56584501-56586700,14:56822565-56823914,14:56911219-56911312,14:56909062-56912100,14:56911220-56911304,14:57031199-57031530,14:57031213-57031566,14:57119623-57120460,14:57134999-57140000,14:57509655-57510305,14:57509661-57510307,14:57509662-57510307,14:57566757-57572972,14:57566757-57572972,14:57566760-57572966,14:57566761-57572966,14:57847202-57847319,14:58006227-58008292,14:58187679-58187732,14:58273937-58275407,14:58273937-58275407,14:58273962-58275423,14:58273965-58275423,14:58322607-58325578,14:58322611-58325603,14:58360489-58363705,14:58360502-58363662,14:58425190-58425270,14:58425191-58425270,14:58530781-58531097,14:59040835-59042138,14:59040804-59042031,14:59078917-59079792,14:59423295-59423362,14:59429053-59429167,14:59429053-59429195,14:59429063-59429113,14:59429071-59429317,14:59429513-59429647,14:59524783-59524951,14:59525556-59525657,14:59524773-59524937,14:59545298-59545605,14:59545312-59545605,14:59545298-59545605,14:59634725-59634787,14:59883944-59884011,14:59884013-59884260,14:59883921-59883977,14:59883921-59884010,14:50167716-50168803,14:51403537-51414265,14:55031945-55036092,14:55032101-55035900,14:55328388-55330090,14:55393195-55395755,14:55622692-55626005,14:56295331-56297205,14:56456999-56462500,14:56456825-56462688,14:57196402-57197010,14:57868237-57868642,14:57884106-57884675,14:58133667-58148635,14:59555516-59555964,14:59555754-59555964,14:59864280-59868447,14:59883477-59884047,14:59883503-59884059,14:59883503-59884059,14:59883477-59884047|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;TAD_coordinate=14:50000001-106000000,14:50000001-106040000,14:50000001-106760000,14:50000001-50600000,14:50000001-50640000,14:50000001-50720000,14:50000001-51000000,14:50000001-51440000,14:50000001-51480000,14:50000001-51640000,14:50000001-51680000,14:50000001-52680000,14:50000001-53840000,14:50000001-53880000,14:50000001-54880000,14:50000001-54920000,14:50000001-58680000,14:50000001-58720000,14:50000001-58760000,14:50000001-58880000,14:50000001-63800000|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ENCODE_experiment=ENCFF032FMN:ENCFF066NYU:ENCFF075QYD:ENCFF136AUY:ENCFF248DGB:ENCFF274VJU:ENCFF306YQN:ENCFF310FEU:ENCFF336WPU:ENCFF373MCF:ENCFF437EBV:ENCFF444XGA:ENCFF451MCF:ENCFF471EYL:ENCFF477VVJ:ENCFF531PAV:ENCFF558RGV:ENCFF569KNS:ENCFF588KUZ:ENCFF633ORE:ENCFF654GDV|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Cosmic_ID=1000828,1000829,1003073,1003074,1003075,1003076,1003077,1003078,1003079,1003080,1003081,1003082,1003083,1003084,100605,100606,100607,100609,100610,100611,100612,1006704,1006706,1008603,1009405,1010830,1011198,1013347,1014459,1014460,1015358,1017904,1017905,1018192,1018193,1018194,1018408,1018409,1018410,1018412,1018413,1018414,1018415,1018416,1018417,1018665,1018666,1018667,1018668,1018669,1024683,...|739972,739973|131963,144381,150205,160196,180468,180469,183931,192355,197825,219512,225061,238188,413457,761833|.|.|.|1183894,1326031,136104,1500058,1517318,1559677,1684688,1709570,1785155,1876731,1888652,1898691,2089491,2103449,2147747,2160314,2175977,2249949,2410294,2484556,2567420,2606198,2753795,2758834,2760075,2901168,2924040,3006346,420186,437770,544810,590899,706343,706344,761832,876049,935691,949113|2748117,459215|1058159|58937|.|13586,208117,739994|140780,310551,427319,989775|.|.|.|1064488|.|456454,47563,494174,531367,570021|525013|470078|761773|1118792,1628002,1782341,289956,556844,565335,706315,955357,956082|.|706322|3054628,706318,761792,761793,761794,761795,761796,761797,761798,761799,761800,777845,777851,777879,778026|270619,718076|.|1555448,718072,718073,718074,761783,761784,850655|.|.|1102889,1212855,1212987,1395773,1415271,2011838,2094141,2116904,2210520,2248193,310556,446310,494170,706312,739977,831183|706316|.|.|718084|.|.|.|1037508,1037509,1037510,1037511,1037512,108740,126584,270635,53773,609722,706324,748889,782350,824428|.|501447,718068|1069332|.|.|.|.|.|.|739965|1017904|.|.|.|.|.|.|1058157,114239,114240,148278,270608,351029,761779,791463,821641,989614|706320|.|.|.|.|.|.|.|464169,63144|1047630,169780,373281,739969,787359,868090,969811,991701|.|.|1037517,1808247,270638,2901636,418304,448126,473362,531376,531377,531378,674982,680150,689572,706330|145167,223667,411719|761835,761836|.|.|.|.|739974,739975,969350|.|.|.|.|.|.|.|157874,190479,22503,3031195,356837,470081,479077,494177,494178,562225,696072,950275|1047626|1047654,1047655,226862,396488,397981,397982,421499,516344,576257,599417,696083,706342,739996,739997,739998,739999,740000,740001,740002,740003,746830,746989,761820,761821,761822,761823,761824,761825,761826,761827,761828,839956,840879,850674,876047,926437,937417,954999,979779|435367|1047623,261484,270606,761776,761777,761778|.|.|706345|18355,297960,306030,531380,590894|.|.|1662524,270613,270614,428897,428898,428899,430112,706309,9710|506919,761787,761788,761789,761790,761791,810530,821643|.|590890,739988;Cosmic_mut_typ=gain,loss|gain,loss|gain,loss|.|.|.|gain,loss|gain,loss|loss|gain|.|loss|loss|.|.|.|loss|.|gain,loss|loss|gain|loss|gain,loss|.|loss|gain,loss|gain|.|gain,loss|.|.|gain,loss|loss|.|.|gain|.|.|.|gain,loss|.|gain,loss|gain|.|.|.|.|.|.|gain|gain|.|.|.|.|.|.|gain,loss|loss|.|.|.|.|.|.|.|gain,loss|gain,loss|.|.|gain,loss|gain,loss|loss|.|.|.|.|gain,loss|.|.|.|.|.|.|.|gain,loss|gain|gain,loss|gain|gain,loss|.|.|loss|gain,loss|.|.|gain,loss|gain,loss|.|gain,loss;GC_content_left=0.380|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;GC_content_right=0.410|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Repeat_coord_left=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Repeat_type_left=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Repeat_coord_right=14:59999723-59999992,14:60000003-60000173|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Repeat_type_right=LTR87,LTR87|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Gap_left=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Gap_right=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;SegDup_left=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;SegDup_right=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ENCODE_blacklist_left=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ENCODE_blacklist_characteristics_left=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ENCODE_blacklist_right=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ENCODE_blacklist_characteristics_right=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ACMG=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;HI=3.0|.|.|.|.|.|.|.|.|2.0|.|.|.|.|.|.|.|.|30.0|.|.|.|.|.|.|.|.|.|.|3.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|3.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;TS=.|.|.|.|.|.|.|.|.|0.0|.|.|.|.|.|.|.|.|0.0|.|.|.|.|.|.|.|.|.|.|0.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|0.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;DDD_HI_percent=.|68.22|14.58|22.08|16.14|25.26|.|42.19|14.74|0.22|95.05|.|48.69|8.74|48.1|6.0|11.09|60.74|40.86|60.57|.|67.73|.|5.97|67.94|12.9|15.67|.|.|28.56|8.86|13.17|17.46|69.56|29.45|43.86|55.69|18.97|16.05|31.59|.|54.08|48.18|59.57|.|.|.|.|.|95.22|98.68|.|.|.|.|.|27.31|21.54|26.51|26.48|.|.|.|.|12.07|21.98|56.59|9.17|0.72|.|41.39|12.06|5.91|.|2.2|59.25|35.09|6.92|.|.|.|.|43.02|22.47|.|9.41|13.48|20.75|30.25|16.91|11.51|78.11|14.61|26.11|24.25|65.43|17.57|67.75|33.76|22.07;ExAC_delZ=1.49134311362883|-1.54856236365969|0.409755289653893|0.0574301679604728|0.0947113797082893|0.707589205561659|.|0.551818027593061|0.289127083885536|0.524237776429203|.|.|-1.20021007122055|0.123183898914881|0.565795517229451|0.494550984920404|0.697066774430222|0.628145933291237|0.796251761060326|0.0244449902727107|.|-0.106110261792203|.|0.322581262660545|0.175325398992598|1.14090304497454|0.791717559823987|.|.|0.50957800130836|0.526211631620056|.|0.739431153488689|.|0.431979263618926|0.683731782243254|1.09702677889687|-1.02900432343689|0.931020719359027|.|.|0.146641725561268|0.459846372367536|-0.386319461681585|.|.|.|.|.|.|.|.|.|.|.|.|.|1.10425246663747|0.211003258664864|.|.|.|.|.|0.751786244558044|1.49134311362883|1.06489869653984|0.482069767594062|0.268380453417853|.|-0.0525069207592275|1.09845853567427|0.330031895463446|.|1.01981182282105|0.265798935200003|0.163414317912277|-1.30363986920437|.|.|.|.|1.10459056564813|0.398393906506967|.|0.549832767983936|-0.0429395959833565|0.314525119845469|0.392612171974756|0.72768316849493|0.767222602014266|0.701161561582539|0.741153237740858|-0.222126804353199|0.210206516599648|0.460287258002643|0.799563536957574|1.11638227738112|-0.210722415709232|-0.0754977225416558;ExAC_dupZ=1.41040898078987|-0.718759304030418|-0.882717466808782|1.19541983178201|0.491548663863901|1.03069904426296|.|-0.357672317015693|-0.159185688474007|0.788791243901348|.|.|-0.511206144778158|0.934097691529371|0.150343318492156|0.806566767298933|1.41040898078987|0.852085173537386|0.0699066918545996|-2.53125239294469|.|-0.0780076613724513|.|0.739665229148626|-0.364821597780596|0.935357680301249|-0.195868545764418|.|.|0.480372821686871|0.841351244475038|.|-0.0201955024039116|.|0.402878728282133|-0.295273602184415|1.34660708621278|0.0320739153389358|0.173128058419701|.|.|-0.703703320115608|-0.445090331638832|0.528835800579307|.|.|.|.|.|.|.|.|.|.|.|.|.|0.114204086322751|0.614292596052487|.|.|.|.|.|0.989915111428244|0.151072829791993|0.630596313611343|0.185598630908424|0.656442382765837|.|0.815018259371259|0.309540281769677|-1.11578210020012|.|0.848579178025151|0.233830382938051|0.162237809784858|-0.849216727788856|.|.|.|.|0.86110239261663|0.405124670581879|.|1.28573117287422|0.436402190505789|0.668156098367835|0.162471625607648|-0.26161363787954|1.03215815246894|0.274519725480325|0.277817405723433|1.33634826440611|0.319047030748436|0.127631717384415|1.07061054616672|0.0450881142053095|-0.958506697488207|0.242811575742597;ExAC_cnvZ=1.55315888341375|-0.957756521935053|-0.490899255123313|0.863716344100932|0.530816826988132|1.08207296039241|.|-0.0342491320619876|0.0261447432662974|0.917919635354791|.|.|-0.775204662133362|0.787426186097454|0.414022933068861|0.947001864685503|1.34793855523718|1.01075640659087|0.408666980949118|-2.47162789907313|.|-0.0112571137856067|.|0.711005945177804|-0.160408258219055|1.24882052835124|0.17942379751668|.|.|0.661531792397911|0.980023488852898|.|0.330835182472497|.|0.574588034875443|0.0734739271955627|1.55315888341375|-0.396575667355322|0.540581887513877|.|.|-0.447114014774023|-0.13220737968192|0.228501940809365|.|.|.|.|.|.|.|.|.|.|.|.|.|0.497959696980719|0.680394542105059|.|.|.|.|.|1.17536122078025|0.671923255418577|0.943360186027642|0.351867042584064|0.729536456973228|.|0.61605697516496|0.700587628630932|-0.700945898104175|.|1.13935227671492|0.374170982931369|0.279508050747094|-0.94731824320807|.|.|.|.|1.16448453422011|0.56361804356382|.|1.1936373474178|0.352626915436617|0.751953146374414|0.368963914259907|0.105708793144157|1.21532548072548|0.555543592988866|0.581832752879503|0.766294185255133|0.364260970777102|0.34578093262945|1.24491788141417|0.488604346095255|-0.783258371887321|0.174122536099903;ExAC_synZ=3.70069515770064|-0.225612552075775|-0.334687809260053|-1.42040695157831|0.466358074032461|-0.759603151930357|.|0.421182439061448|-0.572978595972358|0.187587933566873|.|.|0.508858643935569|-0.252264933382234|0.152063131183801|0.403584790690839|0.755184900095034|0.962067089476562|2.07554100862261|-0.38114017206841|.|2.55888037733804|.|-0.659939985258593|-1.6945324894983|0.591878392645807|-0.0359046958150172|.|.|0.39768072567718|-0.815850233777985|0.309201708751314|-0.0927910745388203|3.70069515770064|1.24973281728071|0.028346914718509|-1.75285201012082|-0.209229804873958|0.806286754923293|0.0052825542521659|.|0.224042686437295|1.74077386219118|-0.126624710455481|.|.|.|.|.|.|.|.|.|.|.|.|-1.35352095405636|0.101252471684453|-0.890863472055441|1.07358424487931|.|.|.|.|2.07436421712134|-1.97404879392239|0.647245963986442|0.653789181547074|0.227633065584633|.|-1.22509057161856|0.245473478139234|-0.477851782662045|.|0.330325836920114|2.33302038835896|1.04321880588982|-0.507347698945603|.|.|.|.|0.303633039119559|0.049805358610056|.|0.629929624193603|1.02640307833241|-1.17886682362244|0.491517864668319|-0.332920803398783|0.286001188739883|-0.081902768353108|0.191365850589707|-1.18013246159408|-0.605454012389364|0.37300042094476|1.41458168524741|-2.16407574205995|-0.158087890077722|0.291684847928136;ExAC_misZ=4.2507379187541|-0.511223667696865|0.843108112171691|-0.311063452412789|4.09144825027381|0.415933520082048|.|1.32343083946981|2.42236734634696|2.16430707467505|.|.|0.421528527686064|0.696205834843034|-0.564384768765337|1.12970324455447|1.35269247119506|0.967791366910407|2.52027228404247|-0.84274865725347|.|2.77699246050572|.|1.49045847202651|-0.456427363487482|1.8980067275072|-0.592894191977576|.|.|3.01486021851349|1.12881168306513|1.49974281466385|0.762502320790811|2.12744068027277|2.16444107192199|1.24643853979958|-2.71726457352232|-0.597064419123402|0.853772974998206|-1.78080350808307|.|0.115863845100636|-0.384320152401871|-0.740825870624318|.|.|.|.|.|.|.|.|.|.|.|.|-0.0860149976853457|0.819682432852057|-0.199467750192145|1.27099782920887|.|.|.|.|2.94994227424014|0.295388814346023|-0.228999142127435|-0.221994653145401|1.22457611918374|.|1.9252063722749|0.426410996034919|1.98365811035355|.|3.79088306221289|1.0988287765312|2.9873391671655|0.456916286508234|.|.|.|.|1.60016944829627|2.08416261484669|.|2.43741656749626|0.615370711925532|-0.917417604669037|0.190586982121789|2.32648652055095|0.829761448128307|-0.141414913671336|-0.450008217498481|-1.94553112600308|-0.42246563786595|1.24065693488838|4.2507379187541|-2.46669824073352|-2.086238519805|-1.3469858943089;GenCC_disease=.|.|.|.|.|.|.|.|hereditary_sensory_and_autonomic_neuropathy_type_1,hereditary_spastic_paraplegia_3A,neuropathy,_hereditary_sensory,_type_1D|Stickler_syndrome,microphthalmia_with_brain_and_digit_anomalies,renal_agenesis,_unilateral|.|.|.|.|.|.|.|Townes-Brocks_syndrome,Townes-Brocks_syndrome_2|hereditary_spastic_paraplegia_28,hereditary_spastic_paraplegia_56|.|.|primary_ciliary_dyskinesia,primary_ciliary_dyskinesia_10|.|.|.|.|.|.|.|GTP_cyclohydrolase_I_deficiency,GTP_cyclohydrolase_I_deficiency_with_hyperphenylalaninemia,dystonia_5|.|.|osteochondrodysplasia|.|.|.|Joubert_syndrome,Joubert_syndrome_17,Joubert_syndrome_23,Joubert_syndrome_with_Jeune_asphyxiating_thoracic_dystrophy,short-rib_thoracic_dysplasia_14_with_polydactyly|.|.|.|.|L-2-hydroxyglutaric_aciduria|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|MGAT2-CDG|.|.|.|.|.|intellectual_developmental_disorder_with_speech_delay_and_axonal_peripheral_neuropathy|.|Seckel_syndrome_7|combined_pituitary_hormone_deficiencies,_genetic_form,isolated_anophthalmia-microphthalmia_syndrome,patterned_macular_dystrophy,pituitary_hormone_deficiency,_combined,_6,septooptic_dysplasia,syndromic_microphthalmia_type_5|.|.|.|.|.|.|.|.|glycogen_storage_disease_VI|.|.|.|.|.|Diamond-Blackfan_anemia,Diamond-Blackfan_anemia_13|.|.|.|.|autoimmune_disease|Noonan_syndrome,Noonan_syndrome_9|.|.|.|structural_heart_defects_and_renal_anomalies_syndrome|.|.|.|.|.|.;GenCC_moi=.|.|.|.|.|.|.|.|AD,sD|AD,AR|.|.|.|.|.|.|.|AD|AR|.|.|AD,AR|.|.|.|.|.|.|.|AD,AR,sD|.|.|AR|.|.|.|AR|.|.|.|.|AR|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|AR|.|.|.|.|.|AR|.|AR|AD|.|.|.|.|.|.|.|.|AR|.|.|.|.|.|AD|.|.|.|.|AD|AD|.|.|.|AR|.|.|.|.|.|.;GenCC_classification=.|.|.|.|.|.|.|.|Definitive,Moderate,Supportive|Definitive,Moderate,Strong,Supportive|.|.|.|.|.|.|.|Limited,Supportive|Definitive,Moderate,Supportive|.|.|Moderate,Strong,Supportive|.|.|.|.|.|.|.|Definitive,Strong,Supportive|.|.|Limited|.|.|.|Definitive,Moderate,Strong,Supportive|.|.|.|.|Definitive,Strong,Supportive|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|Definitive,Moderate,Strong,Supportive|.|.|.|.|.|Strong|.|Limited|Definitive,Moderate,Strong,Supportive|.|.|.|.|.|.|.|.|Definitive,Strong,Supportive|.|.|.|.|.|Moderate,Supportive|.|.|.|.|Limited|Definitive,Strong,Supportive|.|.|.|Strong|.|.|.|.|.|.;GenCC_pmid=.|.|.|.|.|.|.|.|11685207[PMID],21194679[PMID]|18252212,19249007,21340693,21900877[PMID],25663169,30362103,31053785|.|.|.|.|.|.|.|19701191,22610794,28054444[PMID]|15786464,23176821,23176821[PMID]|.|.|19052621,20301301[PMID],31107948|.|.|.|.|.|.|.|10208576,10732814,10987649,11359069,11486899,12552057,17111153,7730309,7874165,9576537,9667588,NULL|.|.|32591345|.|.|.|26026149,26096313[PMID],26386044[PMID],26437029|.|.|.|.|15385440,16134148,19911013,20052767,20052767[PMID],22391998|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|11228641,20301507[PMID],20684000,22105986,31420886,33044030,8808595|.|.|.|.|.|27431290,32934225|.|.|15846561,15846561[PMID]_20396904[PMID],18628516,18728160[PMID],18854396,19956411,19965921,20396904,21396578[PMID]_24802313[PMID],24033328[PMID],24859618,25293953[PMID]|.|.|.|.|.|.|.|.|32892177,32961316,33505429,9529348,9536091,NULL|.|.|.|.|.|24829207,24829207[PMID]|.|.|.|.|.|25795793,25795793[PMID],26173643,32788663|.|.|.|28318500|.|.|.|.|.|.;OMIM_ID=606439,112262,607861,614603,612517,600225,616510,610178,609584,602616,608378,608684,600037,604687,176804,613741,603633,601247,617449|.|.|.|.|.|.|.|606439|112262|.|.|.|.|.|.|.|607861|614603|.|.|612517|.|.|.|.|.|.|.|600225|.|.|616510|.|.|.|610178|.|.|.|.|609584|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|602616|.|.|.|.|.|608378|.|608684|600037|.|.|.|.|.|.|604687|176804|613741|.|.|.|.|.|603633|.|.|.|.|.|601247|.|.|.|617449|.|.|.|.|.|.;OMIM_phenotype=.|.|.|.|.|.|.|.|Neuropathy,_hereditary_sensory,_type_ID,_613708_(3)_AD,Spastic_paraplegia_3A,_AD,_182600_(3)_AD|Microphthalmia,_syndromic_6,_607932_(3)_AD,Orofacial_cleft_11,_600625_(3)|.|.|.|.|.|.|.|?Townes-Brocks_syndrome_2,_617466_(3)_AD|Spastic_paraplegia_28,_AR,_609340_(3)_AR|.|.|Ciliary_dyskinesia,_primary,_10,_612518_(3)_AR|.|.|.|.|.|.|.|Dystonia,_DOPA-responsive,_with_or_without_hyperphenylalaninemia,_128230_(3)_AR,AD,Hyperphenylalaninemia,_BH4-deficient,_B,_233910_(3)_AR|.|.|?Rhizomelic_dysplasia,_Ain-Naz_type,_616510_(3)|.|.|.|Joubert_syndrome_23,_616490_(3)_AR,Short-rib_thoracic_dysplasia_14_with_polydactyly,_616546_(3)_AR|.|.|.|.|L-2-hydroxyglutaric_aciduria,_236792_(3)_AR|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|Congenital_disorder_of_glycosylation,_type_IIa,_212066_(3)_AR|.|.|.|.|.|Intellectual_developmental_disorder_with_speech_delay_and_axonal_peripheral_neuropathy,_619099_(3)_AR|.|?Seckel_syndrome_7,_614851_(3)_AR|Microphthalmia,_syndromic_5,_610125_(3)_AD,Pituitary_hormone_deficiency,_combined,_6,_613986_(3)_AD,Retinal_dystrophy,_early-onset,_with_or_without_pituitary_dysfunction,_610125_(3)_AD|.|.|.|.|.|.|(Asthma,_susceptibility_to,_1),_607277_(3)|(Asthma,_aspirin-induced,_susceptibility_to),_208550_(3)_AR|Glycogen_storage_disease_VI,_232700_(3)_AR|.|.|.|.|.|Diamond-Blackfan_anemia_13,_615909_(3)_AD|.|.|.|.|.|Noonan_syndrome_9,_616559_(3)_AD|.|.|.|Structural_heart_defects_and_renal_anomalies_syndrome,_617478_(3)_AR|.|.|.|.|.|.;OMIM_inheritance=.|.|.|.|.|.|.|.|AD|AD|.|.|.|.|.|.|.|AD|AR|.|.|AR|.|.|.|.|.|.|.|AR,AR,AD|.|.|.|.|.|.|AR|.|.|.|.|AR|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|AR|.|.|.|.|.|AR|.|AR|AD|.|.|.|.|.|.|.|AR|AR|.|.|.|.|.|AD|.|.|.|.|.|AD|.|.|.|AR|.|.|.|.|.|.;OMIM_morbid=yes|.|.|.|.|.|.|.|yes|yes|.|.|.|.|.|.|.|.|yes|.|.|yes|.|.|.|.|.|.|.|yes|.|.|.|.|.|.|yes|.|.|.|.|yes|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|yes|.|.|.|.|.|yes|.|.|yes|.|.|.|.|.|.|.|.|yes|.|.|.|.|.|yes|.|.|.|.|.|yes|.|.|.|yes|.|.|.|.|.|.;OMIM_morbid_candidate=yes|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|yes|.|.|.|.|.|.|.|.|.|.|.|.|.|.|yes|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|yes|.|.|.|.|.|.|.|yes|yes|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;LOEUF_bin=.|8.0|3.0|6.0|3.0|0.0|.|2.0|1.0|1.0|4.0|.|6.0|4.0|4.0|3.0|0.0|2.0|1.0|4.0|.|5.0|.|0.0|2.0|0.0|2.0|.|.|1.0|5.0|7.0|6.0|8.0|2.0|3.0|3.0|4.0|2.0|1.0|.|4.0|7.0|7.0|.|.|.|.|.|.|.|.|.|.|.|.|7.0|1.0|3.0|3.0|.|.|.|.|0.0|1.0|2.0|2.0|1.0|.|1.0|4.0|1.0|.|0.0|8.0|5.0|5.0|.|.|.|.|8.0|6.0|.|0.0|3.0|3.0|5.0|0.0|2.0|7.0|7.0|6.0|4.0|8.0|0.0|3.0|9.0|4.0;GnomAD_pLI=1.0|3.7965e-15|0.0015053|1.3325e-09|0.71536|1.0|.|0.17435|0.98109|0.9564|4.9246e-09|.|2.5004e-07|0.0019455|0.0073203|0.64965|0.99918|0.40017|0.902|1.1806e-14|.|6.4811e-09|.|0.99991|0.1166|0.99999|0.027916|.|.|0.90292|0.0053339|0.50556|0.012367|6.4853e-05|0.42259|0.076522|5.1344e-16|4.4754e-08|0.026499|0.0064543|.|4.2231e-05|9.2642e-07|2.3207e-05|.|.|.|.|.|.|.|.|.|.|.|.|1.107e-08|0.99469|0.64991|0.034151|.|.|.|.|0.98682|0.00035788|4.1103e-09|9.6335e-09|0.92344|.|0.82955|2.8528e-07|0.98462|.|0.99662|3.58e-06|0.0074901|1.71e-17|.|.|.|.|0.048413|0.29053|.|0.99958|0.00090373|0.0085933|1.4208e-05|0.99955|0.37747|1.4914e-10|0.020827|4.729900000000001e-19|0.00074607|5.0571e-05|0.99973|9.949e-06|5.5498e-11|4.3694e-18;ExAC_pLI=1.0|3.2806e-13|0.0047362|0.00010864|0.60061|1.0|.|0.32685|0.99212|0.96747|.|.|3.6034e-05|0.066297|0.0052269|0.84399|0.99999|0.8166|0.96846|1.7411e-05|.|4.7882e-06|.|0.99668|0.0045985|0.99983|0.4384|.|.|0.94249|0.32314|0.52377|0.0055674|0.003932|0.69544|0.059898|1.4487e-12|0.00014822|0.15796|0.63977|.|0.30997|1.5238e-07|0.00017511|.|.|.|.|.|.|.|.|.|.|.|.|8.6073e-07|0.94427|0.38949|0.95503|.|.|.|.|0.97372|0.98171|6.9535e-07|8.9355e-06|0.7446|.|0.94851|0.00015336|0.99028|.|0.99551|4.0209e-05|0.10502|1.3134e-09|.|.|.|.|0.041833|0.34941|.|0.99927|0.77723|0.0096926|1.8589e-06|0.99943|0.97207|4.9349e-08|0.43785|5.8827e-12|0.0033285|0.00078766|0.98791|1.69e-07|2.6175e-08|1.8237e-11;AnnotSV_ranking_score=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;AnnotSV_ranking_criteria=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ACMG_class=.|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA GT 1/0 ./.Gen \ No newline at end of file diff --git a/tests/test_empty.vcf b/tests/test_empty.vcf new file mode 100644 index 0000000..467ca13 --- /dev/null +++ b/tests/test_empty.vcf @@ -0,0 +1,29 @@ +##fileformat=VCFv4.3 +##fileDate=20210317 +##reference=GRCh37 +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT sample1 sample2 \ No newline at end of file diff --git a/tests/test_gene_matcher.vcf b/tests/test_gene_matcher.vcf new file mode 100644 index 0000000..384a50a --- /dev/null +++ b/tests/test_gene_matcher.vcf @@ -0,0 +1,194 @@ +##fileformat=VCFv4.3 +##fileDate=09/03/2023 +##source=AnnotSV +##InputFile=/enadisk/tempor/AnnotSV/tmpJobs/SFZoCDPRjQ/SFZoCDPRjQ.tsv +##FILTER= +##ALT= +##ALT= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO==0.9 as an extremely LoF intolerant gene"> +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##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."> +##INFO= +##INFO= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##reference=file:human_g1k_v37.fasta +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT sampleX sample1 +1 14110160 MantaDUP:TANDEM:1532:0:1:2:0:0 G 999 PASS AnnotSV_ID=1_14110160_14110161_DUP_TANDEM_1|1_14110160_14110161_DUP_TANDEM_1;SV_chrom=1|1;SV_start=14110160|14110160;SV_end=14110161|14110161;SV_length=1.0|1.0;SV_type=DUP:TANDEM|DUP:TANDEM;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=0/1:PASS:486:999,0,483:21,12:36,27|0/1:PASS:486:999,0,483:21,12:36,27;sample1=./.|./.;Annotation_mode=full&split;CytoBand=p36.21|p36.21;Gene_name=PRDM2|PRDM2;Gene_count=1.0|.;Tx=.|NM_001135610;Tx_start=.|14026682.0;Tx_end=.|14151574.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|8.0;Location=.|intron6-intron6;Location2=.|CDS;Dist_nearest_SS=.|32760.0;Nearest_SS_type=.|3';Intersect_start=.|14110160.0;Intersect_end=.|14110161.0;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=dbVar:nssv15128051,dbVar:nssv15133500,dbVar:nssv15145882,dbVar:nssv15147542,dbVar:nssv15148982,dbVar:nssv15149867,nssv15151118,dbVar:nssv15156967,dbVar:nssv15156970|.;po_P_gain_coord=1:11081808-15563167,1:12687421-14320473,1:13946474-18792666,1:47851-249228449,1:6614945-16382506,1:82154-249218992,1:849467-249224684,1:8990090-16518045|.;po_P_gain_percent=0.00|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15127569,dbVar:nssv15136410,dbVar:nssv15145869,dbVar:nssv15145965,dbVar:nssv15145980,dbVar:nssv15146487,dbVar:nssv15146553,dbVar:nssv15146554,dbVar:nssv15147183,dbVar:nssv15147187,dbVar:nssv15147705,dbVar:nssv15148223,dbVar:nssv15148835,dbVar:nssv15151350,dbVar:nssv15151873,dbVar:nssv17956141|.;po_P_loss_coord=1:10324455-16107335,1:10448139-16107331,1:10681833-16847204,1:10722725-14267773,1:10869096-16748995,1:11181682-16650993,1:12784752-16361283,1:13727391-15683440,1:2922757-18015429,1:5423886-18686796,1:6363701-16125588,1:746608-15077159,1:849466-17525065,1:8850514-16272383,1:9094730-16767960,1:9488597-16142286|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.395|.;GC_content_right=0.390|.;Repeat_coord_left=1:14109928-14110078|.;Repeat_type_left=MIR3|.;Repeat_coord_right=1:14109928-14110078|.;Repeat_type_right=MIR3|.;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=40.49|40.49;ExAC_delZ=0.415153458557427|0.415153458557427;ExAC_dupZ=0.373434796722033|0.373434796722033;ExAC_cnvZ=0.547664002453622|0.547664002453622;ExAC_synZ=-1.78317179376506|-1.78317179376506;ExAC_misZ=0.436072998472952|0.436072998472952;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|0.0;GnomAD_pLI=0.99996|0.99996;ExAC_pLI=0.99504|0.99504;AnnotSV_ranking_score=0.0|.;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00),|.;ACMG_class=3|full=3 GT:FT:GQ:PL:PR:SR 0/1:PASS:486:999,0,483:21,12:36,27 ./. +1 16686412 MantaDUP:TANDEM:1896:2:3:0:2:0 A 595 PASS AnnotSV_ID=1_16686412_16686413_DUP_TANDEM_1;SV_chrom=1;SV_start=16686412;SV_end=16686413;SV_length=1.0;SV_type=DUP:TANDEM;Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR:SR;sampleX=0/1:PASS:510:645,0,507:21,10:36,40;sample1=./.;Annotation_mode=full;CytoBand=p36.13;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15133500,dbVar:nssv15149867,nssv15151118,dbVar:nssv15156967,dbVar:nssv15156970;po_P_gain_coord=1:13946474-18792666,1:47851-249228449,1:82154-249218992,1:849467-249224684;po_P_gain_percent=0.00;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15133940,dbVar:nssv15134672,dbVar:nssv15146223,dbVar:nssv15146487,dbVar:nssv15146553,dbVar:nssv15147183,dbVar:nssv15147187,dbVar:nssv15148223,dbVar:nssv16255421,dbVar:nssv17956141;po_P_loss_coord=1:10681833-16847204,1:10869096-16748995,1:15378543-16826368,1:15711763-21306842,1:16008307-19988832,1:16041431-21295864,1:2922757-18015429,1:5423886-18686796,1:849466-17525065,1:9094730-16767960;po_P_loss_percent=0.00;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.530;GC_content_right=0.535;Repeat_coord_left=1:16686266-16686564;Repeat_type_left=AluSg;Repeat_coord_right=1:16686266-16686564;Repeat_type_right=AluSg;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=.;OMIM_ID=.;OMIM_phenotype=.;OMIM_inheritance=.;OMIM_morbid=.;OMIM_morbid_candidate=.;LOEUF_bin=.;GnomAD_pLI=.;ExAC_pLI=.;AnnotSV_ranking_score=-0.6;AnnotSV_ranking_criteria=1B_(cf_Gene_count,_RE_gene,_-0.60),;ACMG_class=3 GT:FT:GQ:PL:PR:SR 0/1:PASS:510:645,0,507:21,10:36,40 ./. +1 230332040 MantaINS:19017:0:0:0:3:0 A 999 PASS AnnotSV_ID=1_230332040_230332041_INS_1|1_230332040_230332041_INS_1;SV_chrom=1|1;SV_start=230332040|230332040;SV_end=230332041|230332041;SV_length=.|.;SV_type=INS|INS;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=1/1:PASS:128:999,131,0:0,1:0,61|1/1:PASS:128:999,131,0:0,1:0,61;sample1=./.|./.;Annotation_mode=full&split;CytoBand=q42.13|q42.13;Gene_name=GALNT2|GALNT2;Gene_count=1.0|.;Tx=.|NM_001291866;Tx_start=.|230193535.0;Tx_end=.|230417868.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|16.0;Location=.|intron2-intron2;Location2=.|CDS;Dist_nearest_SS=.|6841.0;Nearest_SS_type=.|3';Intersect_start=.|230332040.0;Intersect_end=.|230332041.0;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=dbVar:nssv15126459,dbVar:nssv15127572,dbVar:nssv15145669,dbVar:nssv15146018,dbVar:nssv15146178,dbVar:nssv15146390,dbVar:nssv15146391,dbVar:nssv15146656,dbVar:nssv15146793,dbVar:nssv15147003,dbVar:nssv15147005,dbVar:nssv15147314,dbVar:nssv15147341,dbVar:nssv15147383,dbVar:nssv15149867,nssv15151118,dbVar:nssv15150211,dbVar:nssv15151024,dbVar:nssv15154064,dbVar:nssv15156411,dbVar:nssv15156967,dbVar:nssv15156970,dbVar:nssv15777262,dbVar:nssv16206530,dbVar:nssv16206538,dbVar:nssv16207620,dbVar:nssv16215284|.;po_P_gain_coord=1:145764499-249233096,1:182388773-249111240,1:195483439-249213000,1:204045948-249218992,1:207519987-249224684,1:209819552-249225312,1:210136970-249212668,1:210152794-249218992,1:214197155-249212668,1:218252551-249224684,1:219916966-239004378,1:223521035-249212668,1:224002849-249212668,1:224016202-249185508,1:224075482-249185508,1:224105294-249224684,1:224210564-249212668,1:224284190-249212668,1:225049987-249233096,1:225626182-249060210,1:228529973-249181598,1:228832737-240993877,1:229158656-249212668,1:47851-249228449,1:82154-249218992,1:849467-249224684|.;po_P_gain_percent=0.00|.;po_P_loss_phen=Congenital_disorder_of_glycosylation,_type_IIt,_618885_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15129680,dbVar:nssv15146215,dbVar:nssv15146761,dbVar:nssv15147312,dbVar:nssv16207762,dbVar:nssv17969414,dbVar:nssv17969425,morbid:GALNT2|.;po_P_loss_coord=1:146053394-249233096,1:223653722-234591807,1:225569874-230554547,1:226131690-231908227,1:226372825-233008234,1:228214912-231483538,1:230202984-230417868,1:230242018-243840585|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.530|.;GC_content_right=0.530|.;Repeat_coord_left=1:230331980-230332099|.;Repeat_type_left=L2b|.;Repeat_coord_right=1:230331980-230332099|.;Repeat_type_right=L2b|.;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=43.63|43.63;ExAC_delZ=0.589583061794437|0.589583061794437;ExAC_dupZ=0.628660494453528|0.628660494453528;ExAC_cnvZ=0.72560080249744|0.72560080249744;ExAC_synZ=-0.0297744317705634|-0.0297744317705634;ExAC_misZ=2.43462661124795|2.43462661124795;GenCC_disease=.|congenital_disorder_of_glycosylation,_type_iit;GenCC_moi=.|AR;GenCC_classification=.|Strong;GenCC_pmid=.|32293671;OMIM_ID=602274|602274;OMIM_phenotype=.|Congenital_disorder_of_glycosylation,_type_IIt,_618885_(3)_AR;OMIM_inheritance=.|AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|2.0;GnomAD_pLI=0.0084175|0.0084175;ExAC_pLI=0.88199|0.88199;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT:FT:GQ:PL:PR:SR 1/1:PASS:128:999,131,0:0,1:0,61 ./. +1 239953384 MantaBND:19935:0:1:0:0:0:1 C [chr1:239952710[C 350 PASS AnnotSV_ID=1_239953384_239953385_[1_239952710[C_1|1_239953384_239953385_[1_239952710[C_1;SV_chrom=1|1;SV_start=239953384|239953384;SV_end=239953385|239953385;SV_length=.|.;SV_type=[1:239952710[C|[1:239952710[C;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=0/1:PASS:350:400,0,615:26,9:43,9|0/1:PASS:350:400,0,615:26,9:43,9;sample1=./.|./.;Annotation_mode=full&split;CytoBand=q43|q43;Gene_name=CHRM3|CHRM3;Gene_count=1.0|.;Tx=.|NR_164748;Tx_start=.|239549867.0;Tx_end=.|240049898.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|9.0;Location=.|intron6-intron6;Location2=.|UTR;Dist_nearest_SS=.|36767.0;Nearest_SS_type=.|3';Intersect_start=.|239953384.0;Intersect_end=.|239953385.0;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=dbVar:nssv15126459,dbVar:nssv15127572,dbVar:nssv15145669,dbVar:nssv15146018,dbVar:nssv15146178,dbVar:nssv15146390,dbVar:nssv15146391,dbVar:nssv15146656,dbVar:nssv15146793,dbVar:nssv15147003,dbVar:nssv15147005,dbVar:nssv15147314,dbVar:nssv15147341,dbVar:nssv15147383,dbVar:nssv15149119,dbVar:nssv15149590,dbVar:nssv15149867,nssv15151118,dbVar:nssv15150211,dbVar:nssv15151024,dbVar:nssv15154064,dbVar:nssv15156411,dbVar:nssv15156967,dbVar:nssv15156970,dbVar:nssv15170725,dbVar:nssv15774642,dbVar:nssv15776729,dbVar:nssv15777262,dbVar:nssv16206538,dbVar:nssv16207620,dbVar:nssv16215284|.;po_P_gain_coord=1:145764499-249233096,1:182388773-249111240,1:195483439-249213000,1:204045948-249218992,1:207519987-249224684,1:209819552-249225312,1:210136970-249212668,1:210152794-249218992,1:214197155-249212668,1:218252551-249224684,1:223521035-249212668,1:224002849-249212668,1:224016202-249185508,1:224075482-249185508,1:224105294-249224684,1:224210564-249212668,1:224284190-249212668,1:225049987-249233096,1:225626182-249060210,1:228529973-249181598,1:228832737-240993877,1:229158656-249212668,1:231670870-249213000,1:232232335-249218992,1:234050864-249213059,1:235582580-249224684,1:238669293-249224684,1:47851-249228449,1:82154-249218992,1:849467-249224684|.;po_P_gain_percent=0.00|.;po_P_loss_phen=Prune_belly_syndrome,_100100_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15125505,dbVar:nssv15129680,dbVar:nssv15133237,dbVar:nssv15141219,dbVar:nssv15146215,dbVar:nssv15146499,dbVar:nssv15146500,dbVar:nssv15146578,dbVar:nssv15146635,dbVar:nssv15146644,dbVar:nssv15148138,dbVar:nssv15148210,dbVar:nssv15148243,dbVar:nssv15148823,dbVar:nssv15148925,dbVar:nssv15149874,dbVar:nssv15170728,dbVar:nssv15755165,dbVar:nssv15773669,dbVar:nssv17969448,morbid:CHRM3|.;po_P_loss_coord=1:146053394-249233096,1:230242018-243840585,1:232226609-241010904,1:232646424-242656339,1:234605553-240932205,1:235797384-249224684,1:236617216-244515378,1:236719382-249212668,1:237244834-242310908,1:237806581-249212668,1:238069679-244185503,1:238196875-249218733,1:238356180-249224684,1:238514421-249212668,1:238575392-241262068,1:238817623-244138230,1:238917049-249212666,1:239451325-242621355,1:239721730-249212668,1:239792372-240078749,1:239793168-249218792|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.450|.;GC_content_right=0.450|.;Repeat_coord_left=1:239953212-239953588|.;Repeat_type_left=THE1B-int|.;Repeat_coord_right=1:239953212-239953588|.;Repeat_type_right=THE1B-int|.;Gap_left=.|.;Gap_right=.|.;SegDup_left=.|.;SegDup_right=.|.;ENCODE_blacklist_left=.|.;ENCODE_blacklist_characteristics_left=.|.;ENCODE_blacklist_right=.|.;ENCODE_blacklist_characteristics_right=.|.;ACMG=.|.;HI=1.0|1.0;TS=.|0.0;DDD_HI_percent=33.36|33.36;ExAC_delZ=0.101139032949806|0.101139032949806;ExAC_dupZ=0.26083161239908|0.26083161239908;ExAC_cnvZ=0.345250569257669|0.345250569257669;ExAC_synZ=-0.856361448200761|-0.856361448200761;ExAC_misZ=1.91004264356092|1.91004264356092;GenCC_disease=.|prune_belly_syndrome;GenCC_moi=.|AD,AR;GenCC_classification=.|Strong,Supportive;GenCC_pmid=.|10944224,22077972,22077972[PMID],31441039;OMIM_ID=118494|118494;OMIM_phenotype=.|Prune_belly_syndrome,_100100_(3)_AR;OMIM_inheritance=.|AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|0.0;GnomAD_pLI=0.99253|0.99253;ExAC_pLI=0.93703|0.93703;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT:FT:GQ:PL:PR:SR 0/1:PASS:350:400,0,615:26,9:43,9 ./. +1 242393674 MantaDUP:TANDEM:20216:0:1:1:0:0 G 600 PASS AnnotSV_ID=1_242393674_242393675_DUP_TANDEM_1|1_242393674_242393675_DUP_TANDEM_1;SV_chrom=1|1;SV_start=242393674|242393674;SV_end=242393675|242393675;SV_length=1.0|1.0;SV_type=DUP:TANDEM|DUP:TANDEM;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=0/1:PASS:384:650,0,381:14,7:25,17|0/1:PASS:384:650,0,381:14,7:25,17;sample1=./.|./.;Annotation_mode=full&split;CytoBand=q43|q43;Gene_name=PLD5|PLD5;Gene_count=1.0|.;Tx=.|NM_001195812;Tx_start=.|242246287.0;Tx_end=.|242612770.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|9.0;Location=.|intron3-intron3;Location2=.|5'UTR;Dist_nearest_SS=.|10257.0;Nearest_SS_type=.|3';Intersect_start=.|242393674.0;Intersect_end=.|242393675.0;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=dbVar:nssv15126459,dbVar:nssv15127572,dbVar:nssv15136049,dbVar:nssv15142850,dbVar:nssv15145669,dbVar:nssv15145719,dbVar:nssv15145830,dbVar:nssv15146018,dbVar:nssv15146178,dbVar:nssv15146390,dbVar:nssv15146391,dbVar:nssv15146656,dbVar:nssv15146793,dbVar:nssv15147003,dbVar:nssv15147005,dbVar:nssv15147314,dbVar:nssv15147341,dbVar:nssv15147383,dbVar:nssv15149119,dbVar:nssv15149590,dbVar:nssv15149867,nssv15151118,dbVar:nssv15150211,dbVar:nssv15151024,dbVar:nssv15154064,dbVar:nssv15156411,dbVar:nssv15156414,dbVar:nssv15156967,dbVar:nssv15156970,dbVar:nssv15170725,dbVar:nssv15774642,dbVar:nssv15776729,dbVar:nssv15777262,dbVar:nssv16207620,dbVar:nssv16215284|.;po_P_gain_coord=1:145764499-249233096,1:182388773-249111240,1:195483439-249213000,1:204045948-249218992,1:207519987-249224684,1:209819552-249225312,1:210136970-249212668,1:210152794-249218992,1:214197155-249212668,1:218252551-249224684,1:223521035-249212668,1:224002849-249212668,1:224016202-249185508,1:224075482-249185508,1:224105294-249224684,1:224210564-249212668,1:224284190-249212668,1:225049987-249233096,1:225626182-249060210,1:228529973-249181598,1:229158656-249212668,1:231670870-249213000,1:232232335-249218992,1:234050864-249213059,1:235582580-249224684,1:238669293-249224684,1:240407744-249185508,1:240958055-243698867,1:241788417-245617084,1:242130441-245706269,1:242324398-249224684,1:47851-249228449,1:82154-249218992,1:849467-249224684|.;po_P_gain_percent=0.00|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15123369,dbVar:nssv15124422,dbVar:nssv15125505,dbVar:nssv15129680,dbVar:nssv15131783,dbVar:nssv15133000,dbVar:nssv15138053,dbVar:nssv15145856,dbVar:nssv15146215,dbVar:nssv15146499,dbVar:nssv15146500,dbVar:nssv15146578,dbVar:nssv15146579,dbVar:nssv15146635,dbVar:nssv15146644,dbVar:nssv15147199,dbVar:nssv15148138,dbVar:nssv15148210,dbVar:nssv15148243,dbVar:nssv15148823,dbVar:nssv15148925,dbVar:nssv15149874,dbVar:nssv15150727,dbVar:nssv15153348,dbVar:nssv15170728,dbVar:nssv15605825,dbVar:nssv15755165,dbVar:nssv16213856,dbVar:nssv16867377|.;po_P_loss_coord=1:146053394-249233096,1:230242018-243840585,1:232646424-242656339,1:235797384-249224684,1:236617216-244515378,1:236719382-249212668,1:237806581-249212668,1:238069679-244185503,1:238196875-249218733,1:238356180-249224684,1:238514421-249212668,1:238817623-244138230,1:238917049-249212666,1:239451325-242621355,1:239721730-249212668,1:239793168-249218792,1:240554955-247342593,1:240620284-247690417,1:240628422-249212668,1:241051170-249224684,1:241210722-249218792,1:241622740-247867973,1:241661108-242431558,1:241840210-245811029,1:241920551-249185508,1:242150334-246518362,1:242208581-249224684,1:242263612-244559673,1:242357208-246378823|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.320|.;GC_content_right=0.320|.;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=32.58|32.58;ExAC_delZ=.|.;ExAC_dupZ=.|.;ExAC_cnvZ=.|.;ExAC_synZ=0.500445291205794|0.500445291205794;ExAC_misZ=2.00529193952475|2.00529193952475;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|2.0;GnomAD_pLI=0.030678|0.030678;ExAC_pLI=0.1242|0.1242;AnnotSV_ranking_score=0.0|.;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00),|.;ACMG_class=3|full=3 GT:FT:GQ:PL:PR:SR 0/1:PASS:384:650,0,381:14,7:25,17 ./. +1 242919671 MantaBND:20296:0:1:0:0:0:1 T ]chrY:11818884]T 10 MinQUAL_SampleFT AnnotSV_ID=1_242919671_242919672_]Y_11818884]T_1;SV_chrom=1;SV_start=242919671;SV_end=242919672;SV_length=.;SV_type=]Y:11818884]T;Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR;sampleX=0/1:MinGQ:10:60,0,219:15,6;sample1=./.;Annotation_mode=full;CytoBand=q43;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15126459,dbVar:nssv15127572,dbVar:nssv15136049,dbVar:nssv15140102,dbVar:nssv15142850,dbVar:nssv15145669,dbVar:nssv15145719,dbVar:nssv15145830,dbVar:nssv15146018,dbVar:nssv15146178,dbVar:nssv15146390,dbVar:nssv15146391,dbVar:nssv15146656,dbVar:nssv15146793,dbVar:nssv15147003,dbVar:nssv15147005,dbVar:nssv15147314,dbVar:nssv15147341,dbVar:nssv15147383,dbVar:nssv15149119,dbVar:nssv15149590,dbVar:nssv15149867,nssv15151118,dbVar:nssv15150211,dbVar:nssv15151024,dbVar:nssv15154064,dbVar:nssv15156411,dbVar:nssv15156414,dbVar:nssv15156967,dbVar:nssv15156970,dbVar:nssv15170725,dbVar:nssv15774642,dbVar:nssv15776729,dbVar:nssv15777262,dbVar:nssv16207620,dbVar:nssv16215284;po_P_gain_coord=1:145764499-249233096,1:182388773-249111240,1:195483439-249213000,1:204045948-249218992,1:207519987-249224684,1:209819552-249225312,1:210136970-249212668,1:210152794-249218992,1:214197155-249212668,1:218252551-249224684,1:223521035-249212668,1:224002849-249212668,1:224016202-249185508,1:224075482-249185508,1:224105294-249224684,1:224210564-249212668,1:224284190-249212668,1:225049987-249233096,1:225626182-249060210,1:228529973-249181598,1:229158656-249212668,1:231670870-249213000,1:232232335-249218992,1:234050864-249213059,1:235582580-249224684,1:238669293-249224684,1:240407744-249185508,1:240958055-243698867,1:241788417-245617084,1:242130441-245706269,1:242324398-249224684,1:242656460-249213000,1:47851-249228449,1:82154-249218992,1:849467-249224684;po_P_gain_percent=0.00;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15123369,dbVar:nssv15124422,dbVar:nssv15129680,dbVar:nssv15131783,dbVar:nssv15133000,dbVar:nssv15133001,dbVar:nssv15133002,dbVar:nssv15138053,dbVar:nssv15145856,dbVar:nssv15146215,dbVar:nssv15146499,dbVar:nssv15146500,dbVar:nssv15146578,dbVar:nssv15146579,dbVar:nssv15146635,dbVar:nssv15146644,dbVar:nssv15147199,dbVar:nssv15148138,dbVar:nssv15148210,dbVar:nssv15148243,dbVar:nssv15148823,dbVar:nssv15149874,dbVar:nssv15150727,dbVar:nssv15153348,dbVar:nssv15170728,dbVar:nssv15605825,dbVar:nssv15755165,dbVar:nssv15770792,dbVar:nssv16207770,dbVar:nssv16207771,dbVar:nssv16867377,dbVar:nssv17971533;po_P_loss_coord=1:146053394-249233096,1:230242018-243840585,1:235797384-249224684,1:236617216-244515378,1:236719382-249212668,1:237806581-249212668,1:238069679-244185503,1:238196875-249218733,1:238356180-249224684,1:238514421-249212668,1:238817623-244138230,1:238917049-249212666,1:239721730-249212668,1:239793168-249218792,1:240554955-247342593,1:240620284-247690417,1:240628422-249212668,1:241051170-249224684,1:241210722-249218792,1:241622740-247867973,1:241840210-245811029,1:241920551-249185508,1:242150334-246518362,1:242208581-249224684,1:242263612-244559673,1:242357208-246378823,1:242404099-245363466,1:242431558-244006492,1:242431558-245027609,1:242483182-245087048,1:242573871-245576615,1:242709334-244225511;po_P_loss_percent=0.00;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=.;TAD_coordinate=1:242880001-243560000;ENCODE_experiment=ENCFF136AUY:ENCFF310FEU;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.455;GC_content_right=0.460;Repeat_coord_left=1:242919520-242919661;Repeat_type_left=MLT1I;Repeat_coord_right=1:242919520-242919661;Repeat_type_right=MLT1I;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=.;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=. GT:FT:GQ:PL:PR 0/1:MinGQ:10:60,0,219:15,6 ./. +2 31823407 MantaBND:6159:1:6:0:0:0:0 A A]chr12:52950398] 856 NoPairSupport AnnotSV_ID=2_31823407_31823408_A]12_52950398]_1;SV_chrom=2;SV_start=31823407;SV_end=31823408;SV_length=.;SV_type=A]12:52950398];Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR:SR;sampleX=0/1:PASS:374:906,0,371:14,0:28,24;sample1=./.;Annotation_mode=full;CytoBand=p23.1;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15129649,dbVar:nssv15141007,dbVar:nssv15141897,dbVar:nssv15161279,dbVar:nssv15161375,dbVar:nssv15161566,dbVar:nssv15161685,nssv15161863,dbVar:nssv15174359,dbVar:nssv15174602,dbVar:nssv15174677,dbVar:nssv17649985,dbVar:nssv17683481;po_P_gain_coord=2:12770-33936576,2:12771-242783384,2:14238-243048760,2:15672-243101834,2:22665048-52850368,2:22922551-33992077,2:236816-46210371,2:24601818-43466284,2:24881528-43460021,2:27861707-60790985,2:28069882-43543420,2:66097-55797773;po_P_gain_percent=0.00;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15119949,dbVar:nssv15120770,dbVar:nssv15152706,dbVar:nssv15775815,dbVar:nssv17969625;po_P_loss_coord=2:29240004-32380876,2:29899368-42441440,2:29940473-36813297,2:31591498-32312698,2:31593047-32737836;po_P_loss_percent=0.00;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.410;GC_content_right=0.410;Repeat_coord_left=2:31821476-31823519;Repeat_type_left=L1PB1;Repeat_coord_right=2:31821476-31823519;Repeat_type_right=L1PB1;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=.;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=. GT:FT:GQ:PL:PR:SR 0/1:PASS:374:906,0,371:14,0:28,24 ./. +3 14396803 MantaINS:7:2619:2619:0:2:0 A 441 PASS AnnotSV_ID=3_14396803_14396804_INS_1;SV_chrom=3;SV_start=14396803;SV_end=14396804;SV_length=.;SV_type=INS;Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR:SR;sampleX=1/1:PASS:27:494,30,0:0,0:0,16;sample1=./.;Annotation_mode=full;CytoBand=p25.1;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15133494,dbVar:nssv15145877,dbVar:nssv15146217,dbVar:nssv15146372,dbVar:nssv15146795,dbVar:nssv15147393,dbVar:nssv15148928,dbVar:nssv15149891,nssv15151839,dbVar:nssv15149909,dbVar:nssv15151098,dbVar:nssv15152843,dbVar:nssv15153450,dbVar:nssv15162889,dbVar:nssv15163762,dbVar:nssv15164144,dbVar:nssv17969827,dbVar:nssv17969828;po_P_gain_coord=3:105526-19552092,3:11504802-38961034,3:13276005-24295240,3:1897972-19519085,3:5173870-16760262,3:60174-197948027,3:61495-197838262,3:61891-24432821,3:61891-33958201,3:61891-36710181,3:61891-37459464,3:61892-197851986,3:73914-20375879,3:73914-30105699,3:7397797-14401942,3:93949-37189567,3:94991-41423012;po_P_gain_percent=0.00;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15142081;po_P_loss_coord=3:13720222-17808236;po_P_loss_percent=0.00;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.405;GC_content_right=0.405;Repeat_coord_left=3:14396819-14396835,3:14396835-14396862,3:14396862-14397153;Repeat_type_left=AluJb,(ATTG)n,AluJb;Repeat_coord_right=3:14396819-14396835,3:14396835-14396862,3:14396862-14397153;Repeat_type_right=AluJb,(ATTG)n,AluJb;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=.;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=. GT:FT:GQ:PL:PR:SR 1/1:PASS:27:494,30,0:0,0:0,16 ./. +3 183361077 MantaINS:35743:1:1:1:0:0 G GAAGAGAAGAGAAGAGAAGACAAGACAAGACAAGACAAGACAAGACAAGACAAGAC 744 PASS AnnotSV_ID=3_183361077_183361078_INS_1|3_183361077_183361078_INS_1;SV_chrom=3|3;SV_start=183361077|183361077;SV_end=183361078|183361078;SV_length=55.0|55.0;SV_type=INS|INS;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=1/1:PASS:31:797,34,0:0,0:1,37|1/1:PASS:31:797,34,0:0,0:1,37;sample1=./.|./.;Annotation_mode=full&split;CytoBand=q27.1|q27.1;Gene_name=KLHL24|KLHL24;Gene_count=1.0|.;Tx=.|NM_001349413;Tx_start=.|183353410.0;Tx_end=.|183402304.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|9.0;Location=.|intron1-intron1;Location2=.|5'UTR;Dist_nearest_SS=.|189.0;Nearest_SS_type=.|3';Intersect_start=.|183361077.0;Intersect_end=.|183361078.0;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=dbVar:nssv15142547,dbVar:nssv15145707,dbVar:nssv15145927,dbVar:nssv15146719,dbVar:nssv15146977,dbVar:nssv15147464,dbVar:nssv15147518,dbVar:nssv15147549,dbVar:nssv15147555,dbVar:nssv15147564,dbVar:nssv15147600,dbVar:nssv15148025,dbVar:nssv15148262,dbVar:nssv15148839,dbVar:nssv15149548,dbVar:nssv15149891,nssv15151839,dbVar:nssv15153539,dbVar:nssv15162889,dbVar:nssv15164144,dbVar:nssv15164224,dbVar:nssv16207928,dbVar:nssv17955953|.;po_P_gain_coord=3:103145726-197837049,3:142995020-192997215,3:147239679-197823436,3:151818301-197845254,3:155836230-197851986,3:156039667-197840323,3:157011167-197861598,3:158980631-197766890,3:165854997-197851986,3:167435750-188083060,3:167885356-197837049,3:169617690-190593854,3:173281266-197838262,3:175119199-187592480,3:175886313-197845254,3:176157699-197845254,3:177246493-197837049,3:177490311-185434660,3:182539234-197851986,3:60174-197948027,3:61495-197838262,3:61892-197851986|.;po_P_gain_percent=0.00|.;po_P_loss_phen=Epidermolysis_bullosa_simplex_6,_generalized,_with_scarring_and_hair_loss,_617294_(3)_AD|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15138793,dbVar:nssv15146004,dbVar:nssv15148941,dbVar:nssv15153540,dbVar:nssv16255537,dbVar:nssv16297143,dbVar:nssv16297147,dbVar:nssv17969921,dbVar:nssv17969923,morbid:KLHL24|.;po_P_loss_coord=3:180834336-183551661,3:180856452-192229812,3:181171210-184706091,3:182037552-186160910,3:182189525-187212935,3:182650681-191275809,3:182877291-186830759,3:183178932-186838042,3:183239285-184189826,3:183353410-183402304|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.270|.;GC_content_right=0.270|.;Repeat_coord_left=3:183360737-183361036|.;Repeat_type_left=AluSp|.;Repeat_coord_right=3:183360737-183361036|.;Repeat_type_right=AluSp|.;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=20.67|20.67;ExAC_delZ=.|.;ExAC_dupZ=.|.;ExAC_cnvZ=.|.;ExAC_synZ=-0.274858027142893|-0.274858027142893;ExAC_misZ=3.01702302885222|3.01702302885222;GenCC_disease=.|epidermolysis_bullosa_simplex_6,_generalized,_with_scarring_and_hair_loss;GenCC_moi=.|AD;GenCC_classification=.|Moderate,Strong,Supportive;GenCC_pmid=.|27798626,27889062,27889062[PMID]_27798626[PMID]_28532758[PMID]_29574966[PMID];OMIM_ID=611295|611295;OMIM_phenotype=.|Epidermolysis_bullosa_simplex_6,_generalized,_with_scarring_and_hair_loss,_617294_(3)_AD;OMIM_inheritance=.|AD;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|3.0;GnomAD_pLI=0.0016745|0.0016745;ExAC_pLI=0.25241|0.25241;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT:FT:GQ:PL:PR:SR 1/1:PASS:31:797,34,0:0,0:1,37 ./. +4 71552 . T . . AnnotSV_ID=4_71552_71553_DEL_1|4_71552_71553_DEL_1|4_71552_71553_DEL_1;SV_chrom=4|4|4;SV_start=71552|71552|71552;SV_end=71553|71553|71553;SV_length=-1.0|-1.0|-1.0;SV_type=DEL|DEL|DEL;Samples_ID=sample1|sample1|sample1;FORMAT=GT|GT|GT;sampleX=./.|./.|./.;sample1=0/1|0/1|0/1;Annotation_mode=full&split;CytoBand=p16.3|p16.3|p16.3;Gene_name=ZNF595,ZNF718|ZNF595|ZNF718;Gene_count=2.0|.|.;Tx=.|NM_001286052|NR_110527;Tx_start=.|53178.0|53192.0;Tx_end=.|88099.0|196095.0;Overlapped_tx_length=.|1.0|1.0;Overlapped_CDS_length=.|0.0|0.0;Overlapped_CDS_percent=.|0.0|0.0;Frameshift=.|no|no;Exon_count=.|9.0|5.0;Location=.|intron2-intron2|intron3-intron3;Location2=.|CDS|UTR;Dist_nearest_SS=.|12103.0|11506.0;Nearest_SS_type=.|5'|5';Intersect_start=.|71552.0|71552.0;Intersect_end=.|71553.0|71553.0;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=dbVar:nssv15125120,dbVar:nssv15132087,dbVar:nssv15132302,dbVar:nssv15134956,dbVar:nssv15136789,dbVar:nssv15142189,dbVar:nssv15145847,dbVar:nssv15148117,dbVar:nssv15148693,dbVar:nssv15149137,dbVar:nssv15149870,nssv15151360,dbVar:nssv15150634,dbVar:nssv15150724,dbVar:nssv15151365,dbVar:nssv15164281,dbVar:nssv15164282,dbVar:nssv15165478,dbVar:nssv15165480,dbVar:nssv15777261,dbVar:nssv16207938,dbVar:nssv16215300,dbVar:nssv16254944,dbVar:nssv17649922|.|.;po_P_gain_coord=4:11525-191028879,4:12440-190904441,4:12440-49064044,4:33574-6632513,4:36424-1583294,4:36424-4098729,4:36424-47493612,4:49450-190915650,4:49450-190963766,4:49450-46339070,4:49450-49620898,4:51413-17799819,4:51413-3776843,4:51413-8224525,4:68345-2503033,4:68345-27423424,4:68345-3713599,4:68345-4051616,4:68345-49089361,4:68345-66440622,4:68345-8731855,4:68346-190957473,4:69671-29702595|.|.;po_P_gain_percent=0.00|.|.;po_P_loss_phen=.|.|.;po_P_loss_hpo=.|.|.;po_P_loss_source=dbVar:nssv15119845,dbVar:nssv15121022,dbVar:nssv15123439,dbVar:nssv15124924,dbVar:nssv15129769,dbVar:nssv15134095,dbVar:nssv15135098,dbVar:nssv15136460,dbVar:nssv15136794,dbVar:nssv15137532,dbVar:nssv15138769,dbVar:nssv15138820,nssv16207940,dbVar:nssv15139111,dbVar:nssv15139152,dbVar:nssv15139308,dbVar:nssv15140532,dbVar:nssv15141218,dbVar:nssv15145893,dbVar:nssv15145934,dbVar:nssv15146364,dbVar:nssv15146789,dbVar:nssv15146961,dbVar:nssv15147322,dbVar:nssv15148266,dbVar:nssv15149902,dbVar:nssv15150277,dbVar:nssv15150501,dbVar:nssv15151109,dbVar:nssv15151269,dbVar:nssv15152168,dbVar:nssv15164280,dbVar:nssv16207937,dbVar:nssv16207939,dbVar:nssv16207941,dbVar:nssv16207942,dbVar:nssv16208663,dbVar:nssv16254942,dbVar:nssv16254943,dbVar:nssv16254952,dbVar:nssv16254953,dbVar:nssv17649921,dbVar:nssv17956854,dbVar:nssv17957198,dbVar:nssv8639431|.|.;po_P_loss_coord=4:1-1328868,4:29214-1925508,4:33574-2356516,4:33574-4534781,4:36424-1957819,4:36424-3267258,4:36424-3883057,4:36424-3975771,4:36424-7361544,4:36424-9371067,4:37336-15870679,4:37336-3776839,4:37336-9370984,4:44020-19796182,4:49450-2010397,4:49450-24280482,4:49450-8872474,4:51413-1399150,4:56772-14501384,4:56772-2214932,4:56772-3872380,4:68345-10312798,4:68345-10336032,4:68345-13770107,4:68345-14614077,4:68345-15973383,4:68345-1675143,4:68345-1999185,4:68345-20387231,4:68345-20587167,4:68345-2137211,4:68345-2786584,4:68345-3891984,4:68345-4044985,4:68345-5046326,4:68345-5319773,4:68345-5831521,4:68345-6056753,4:68345-6984507,4:68345-8731855,4:68345-9768141,4:68598-18912995,4:71552-15302739,4:71552-29006745|.|.;po_P_loss_percent=0.00|.|.;P_snvindel_nb=.|.|.;P_snvindel_phen=.|.|.;B_gain_source=esv2763806|esv2763806|esv2763806;B_gain_coord=4:12281-121562|4:12281-121562|4:12281-121562;B_gain_AFmax=0.01|0.01|0.01;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=esv2763806|.|.;po_B_gain_someG_coord=4:12281-121562|.|.;po_B_loss_allG_source=.|.|.;po_B_loss_allG_coord=.|.|.;po_B_loss_someG_source=.|.|.;po_B_loss_someG_coord=.|.|.;TAD_coordinate=.|.|.;ENCODE_experiment=.|.|.;Cosmic_ID=.|.|.;Cosmic_mut_typ=.|.|.;GC_content_left=0.445|.|.;GC_content_right=0.450|.|.;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=.|93.0|.;ExAC_delZ=.|.|.;ExAC_dupZ=.|.|.;ExAC_cnvZ=.|.|.;ExAC_synZ=-2.08573739588537|-2.08573739588537|.;ExAC_misZ=-0.684191486481177|-0.684191486481177|.;GenCC_disease=.|.|.;GenCC_moi=.|.|.;GenCC_classification=.|.|.;GenCC_pmid=.|.|.;OMIM_ID=.|.|.;OMIM_phenotype=.|.|.;OMIM_inheritance=.|.|.;OMIM_morbid=.|.|.;OMIM_morbid_candidate=.|.|.;LOEUF_bin=.|6.0|.;GnomAD_pLI=0.3055|0.3055|.;ExAC_pLI=1.7753e-05|1.7753e-05|.;AnnotSV_ranking_score=0.0|.|.;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00),2B_(cf_po_P_loss_source,_HI_and_OMIM_morbid,_+0.00),3A_(2_genes,_+0.00),5F_(+0.00)|.|.;ACMG_class=3|full=3|full=3 GT ./. 0/1 +5 723194 . G . . AnnotSV_ID=5_723194_723195_DUP_1|5_723194_723195_DUP_1;SV_chrom=5|5;SV_start=723194|723194;SV_end=723195|723195;SV_length=1.0|1.0;SV_type=DUP|DUP;Samples_ID=sample1|sample1;FORMAT=GT|GT;sampleX=./.|./.;sample1=0/1|0/1;Annotation_mode=full&split;CytoBand=p15.33|p15.33;Gene_name=ZDHHC11B|ZDHHC11B;Gene_count=1.0|.;Tx=.|NM_001351303;Tx_start=.|710469.0;Tx_end=.|784844.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|14.0;Location=.|intron12-intron12;Location2=.|CDS;Dist_nearest_SS=.|6214.0;Nearest_SS_type=.|3';Intersect_start=.|723194.0;Intersect_end=.|723195.0;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=dbVar:nssv15125831,dbVar:nssv15136993,dbVar:nssv15139036,dbVar:nssv15145871,dbVar:nssv15146713,dbVar:nssv15146962,dbVar:nssv15146992,dbVar:nssv15146993,dbVar:nssv15147291,dbVar:nssv15147378,dbVar:nssv15147414,dbVar:nssv15147960,dbVar:nssv15149091,dbVar:nssv15150844,dbVar:nssv15151111,nssv15151221,dbVar:nssv15153658,dbVar:nssv15164761,dbVar:nssv15164764,dbVar:nssv15164765|.;po_P_gain_coord=5:113576-20240392,5:113576-35739404,5:113577-180719789,5:13648-180905029,5:22149-10308848,5:22149-15851485,5:22149-1659250,5:22149-2324057,5:22149-23607162,5:22149-28075213,5:22149-33418294,5:22149-34041255,5:22149-73708550,5:25328-180693344,5:25328-18698028,5:25328-19661628,5:50093-46115086,5:54954-35680947,5:54954-45649963|.;po_P_gain_percent=0.00|.;po_P_loss_phen=5p15_terminal_(Cri_du_chat_syndrome)_region|.;po_P_loss_hpo=.|.;po_P_loss_source=HI3:ISCA-37390,dbVar:nssv15132269,dbVar:nssv15132604,dbVar:nssv15132680,dbVar:nssv15132966,dbVar:nssv15132967,dbVar:nssv15134412,dbVar:nssv15134417,dbVar:nssv15134733,dbVar:nssv15135741,dbVar:nssv15136268,dbVar:nssv15137538,dbVar:nssv15137858,dbVar:nssv15138139,dbVar:nssv15139127,dbVar:nssv15139876,dbVar:nssv15140376,dbVar:nssv15140515,dbVar:nssv15141520,dbVar:nssv15141721,dbVar:nssv15142295,dbVar:nssv15142657,dbVar:nssv15145875,dbVar:nssv15145969,dbVar:nssv15145972,dbVar:nssv15145995,dbVar:nssv15146000,dbVar:nssv15146165,nssv15146815,dbVar:nssv15146458,dbVar:nssv15146459,dbVar:nssv15146522,dbVar:nssv15146622,dbVar:nssv15146696,dbVar:nssv15146717,dbVar:nssv15147171,dbVar:nssv15147173,dbVar:nssv15147402,dbVar:nssv15147416,dbVar:nssv15147440,dbVar:nssv15147702,dbVar:nssv15147956,dbVar:nssv15148016,dbVar:nssv15148058,dbVar:nssv15148064,dbVar:nssv15148112,dbVar:nssv15148231,dbVar:nssv15148554,dbVar:nssv15148844,dbVar:nssv15148862,dbVar:nssv15148942,dbVar:nssv15148968,dbVar:nssv15148985,dbVar:nssv15149121,dbVar:nssv15149508,dbVar:nssv15149597,dbVar:nssv15149886,dbVar:nssv15149911,dbVar:nssv15150118,dbVar:nssv15150161,dbVar:nssv15150229,dbVar:nssv15150601,dbVar:nssv15150625,dbVar:nssv15150859,dbVar:nssv15151220,dbVar:nssv15151241,dbVar:nssv15151402,dbVar:nssv15151403,dbVar:nssv15151861,dbVar:nssv15152885,dbVar:nssv15152886,dbVar:nssv15153655,dbVar:nssv15153656,dbVar:nssv15153657,dbVar:nssv15164763,dbVar:nssv15166282,dbVar:nssv15223218,dbVar:nssv15606071,dbVar:nssv15606072,dbVar:nssv16208006,dbVar:nssv16208007,dbVar:nssv16208008,dbVar:nssv16208009,dbVar:nssv16208010,dbVar:nssv16208011,dbVar:nssv16213555,dbVar:nssv16213990,dbVar:nssv16216549,dbVar:nssv16255066,dbVar:nssv16866488,dbVar:nssv17649947,dbVar:nssv17956677,dbVar:nssv17970513,dbVar:nssv17971003|.;po_P_loss_coord=5:113576-10163809,5:113576-10729838,5:113576-11767720,5:113576-14684471,5:113576-14738180,5:113576-15291661,5:113576-15822225,5:113576-1708530,5:113576-1816055,5:113576-19167699,5:113576-23047959,5:113576-23364376,5:113576-25091472,5:113576-26234903,5:113576-26948599,5:113576-33998394,5:113576-4175855,5:113576-4305172,5:113576-4325585,5:113576-5194484,5:113576-5380741,5:113576-5657333,5:113576-5884399,5:113576-6125331,5:113576-6244090,5:113576-7946262,5:113576-8876045,5:113577-16952167,5:13200-4012072,5:140474-26906925,5:140474-9792158,5:218461-1295161,5:218464-1297488,5:218471-1816030,5:218471-1895829,5:22149-10044199,5:22149-11429370,5:22149-11530503,5:22149-12004203,5:22149-12820111,5:22149-13362684,5:22149-1429714,5:22149-16584684,5:22149-16930125,5:22149-17788806,5:22149-1826370,5:22149-21217229,5:22149-21726469,5:22149-22775404,5:22149-23132155,5:22149-24835567,5:22149-25699714,5:22149-26594000,5:22149-27188057,5:22149-27485726,5:22149-27611270,5:22149-27788723,5:22149-28429348,5:22149-28589299,5:22149-29048823,5:22149-2965987,5:22149-32248116,5:22149-34041196,5:22149-3404358,5:22149-3557056,5:22149-35831640,5:22149-4163847,5:22149-4260264,5:22149-4641409,5:22149-4833739,5:22149-5060009,5:22149-5102699,5:22149-6060215,5:22149-6112711,5:22149-6500967,5:22149-7213388,5:22149-9958240,5:22419-19281001,5:25328-18662625,5:25328-30672798,5:25328-31343671,5:37692-2747022,5:37692-2913319,5:37693-11347262,5:50093-15678560,5:50093-30112642,5:50093-4014761,5:52186-4163906,5:54954-5603514,5:71904-22078969,5:79146-15509107,5:79146-22152284,5:95243-5834664|.;po_P_loss_percent=0.00|.;P_snvindel_nb=.|.;P_snvindel_phen=.|.;B_gain_source=1000g,DDD:16279,DDD:16284,DDD:16285,dgv1061e214,dgv131e203|1000g,DDD:16279,DDD:16284,DDD:16285,dgv1061e214,dgv131e203;B_gain_coord=5:714988-733938,5:714988-733938,5:714988-733938,5:714988-733938,5:717637-748444,5:653581-875018,5:686603-840273,5:708602-865477|5:714988-733938,5:714988-733938,5:714988-733938,5:714988-733938,5:717637-748444,5:653581-875018,5:686603-840273,5:708602-865477;B_gain_AFmax=0.3222|0.3222;B_loss_source=1000g,DDD:16279,DDD:16284,dgv1000e199,dgv131e203,esv3603766|1000g,DDD:16279,DDD:16284,dgv1000e199,dgv131e203,esv3603766;B_loss_coord=5:714988-733938,5:714988-733938,5:653581-875018,5:682474-788359,5:686603-840273,5:708602-865477|5:714988-733938,5:714988-733938,5:653581-875018,5:682474-788359,5:686603-840273,5:708602-865477;B_loss_AFmax=0.0497|0.0497;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=1000g,1000g,1000g,dgv1061e214,DDD:16285,dgv131e203,DDD:16279,DDD:16284|.;po_B_gain_someG_coord=5:714988-733938,5:714988-733938,5:714988-733938,5:714988-733938,5:717637-748444,5:653581-875018,5:686603-840273,5:708602-865477|.;po_B_loss_allG_source=.|.;po_B_loss_allG_coord=.|.;po_B_loss_someG_source=1000g,esv3603766,dgv131e203,dgv1000e199,DDD:16279,DDD:16284|.;po_B_loss_someG_coord=5:714988-733938,5:714988-733938,5:653581-875018,5:682474-788359,5:686603-840273,5:708602-865477|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.395|.;GC_content_right=0.400|.;Repeat_coord_left=5:721916-723166|.;Repeat_type_left=L1ME3F|.;Repeat_coord_right=5:721916-723166|.;Repeat_type_right=L1ME3F|.;Gap_left=.|.;Gap_right=.|.;SegDup_left=5:686122-731394|.;SegDup_right=5:686122-731394|.;ENCODE_blacklist_left=.|.;ENCODE_blacklist_characteristics_left=.|.;ENCODE_blacklist_right=.|.;ENCODE_blacklist_characteristics_right=.|.;ACMG=.|.;HI=.|.;TS=.|.;DDD_HI_percent=98.37|98.37;ExAC_delZ=.|.;ExAC_dupZ=.|.;ExAC_cnvZ=.|.;ExAC_synZ=0.535222227518795|0.535222227518795;ExAC_misZ=-0.0274451648003615|-0.0274451648003615;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|8.0;GnomAD_pLI=3.6787e-13|3.6787e-13;ExAC_pLI=0.043228|0.043228;AnnotSV_ranking_score=0.0|.;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00),2B_(cf_po_P_gain_source,_TS,_OMIM_morbid+0.00),2E_(cf_B_gain_source,_+0.00),2L_(ZDHHC11B,_+0.00),3A_(1_gene,_+0.00),5F_(+0.00)|.;ACMG_class=3|full=3 GT ./. 0/1 +5 80251899 MantaINS:81960:0:0:1:2:0 T 999 PASS AnnotSV_ID=5_80251899_80251900_INS_1|5_80251899_80251900_INS_1;SV_chrom=5|5;SV_start=80251899|80251899;SV_end=80251900|80251900;SV_length=.|.;SV_type=INS|INS;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=1/1:PASS:130:999,133,0:0,0:0,52|1/1:PASS:130:999,133,0:0,0:0,52;sample1=./.|./.;Annotation_mode=full&split;CytoBand=q14.1|q14.1;Gene_name=RASGRF2-AS1|RASGRF2-AS1;Gene_count=1.0|.;Tx=.|NR_105015;Tx_start=.|80243511.0;Tx_end=.|80256726.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|4.0;Location=.|intron1-intron1;Location2=.|UTR;Dist_nearest_SS=.|4600.0;Nearest_SS_type=.|3';Intersect_start=.|80251899.0;Intersect_end=.|80251900.0;RE_gene=DHFR_(morbid/RE=GH_Enhancer)|.;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=dbVar:nssv15120567,dbVar:nssv15151111,nssv15151221,dbVar:nssv15164761,dbVar:nssv15164765,dbVar:nssv16206767|.;po_P_gain_coord=5:113577-180719789,5:13648-180905029,5:25328-180693344,5:72790061-97478870,5:73459011-110145153|.;po_P_gain_percent=0.00|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15151179|.;po_P_loss_coord=5:17628741-176575720|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.445|.;GC_content_right=0.445|.;Repeat_coord_left=5:80251820-80252359|.;Repeat_type_left=MER41A|.;Repeat_coord_right=5:80251820-80252359|.;Repeat_type_right=MER41A|.;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=.|.;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=.|full=NA GT:FT:GQ:PL:PR:SR 1/1:PASS:130:999,133,0:0,0:0,52 ./. +6 32517394 MantaBND:92771:0:2:0:0:0:1 T ]chr15:61773012]T 13 MinQUAL_SampleFT AnnotSV_ID=6_32517394_32517395_]15_61773012]T_1;SV_chrom=6;SV_start=32517394;SV_end=32517395;SV_length=.;SV_type=]15:61773012]T;Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR;sampleX=0/1:MinGQ:13:62,0,125:9,6;sample1=./.;Annotation_mode=full;CytoBand=p21.32;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15161578,dbVar:nssv15161859,nssv15161868,dbVar:nssv15166690,dbVar:nssv15166692,dbVar:nssv15168255,dbVar:nssv15606075,dbVar:nssv16206814;po_P_gain_coord=6:108666-170980171,6:156974-46757028,6:156975-170919482,6:165632-170919470,6:29455465-81447367,6:31036397-34088832,6:60107-171054786;po_P_gain_percent=0.00;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=DDD:20362,DDD:20377;B_gain_coord=6:32424441-32685274,6:32474420-32578938;B_gain_AFmax=0.2071;B_loss_source=1000g,CMRI:1_pbsv.DEL.547_duplicate4,DDD:20362,DDD:20367,DDD:20377,DDD:20389,HI40:ISCA-46610,dgv1100e199,dgv1101e199,dgv1104e199,dgv1106e199,dgv1107e199,esv2421657,esv2422111,esv3608596;B_loss_coord=6:32516187-32521272,6:32516187-32521272,6:32514445-32563492,6:32516595-32541892,6:32516836-32541693,6:32424441-32685274,6:32439244-32570824,6:32440804-32557033,6:32454195-32517692,6:32454275-32571961,6:32474420-32578938,6:32478704-32517455,6:32490263-32526276,6:32497116-32571961,6:32454684-32541300;B_loss_AFmax=0.48;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=DDD:20362,DDD:20377;po_B_gain_someG_coord=6:32424441-32685274,6:32474420-32578938;po_B_loss_allG_source=.;po_B_loss_allG_coord=.;po_B_loss_someG_source=1000g,esv3608596,dgv1106e199,dgv1107e199,HI40:ISCA-46610,DDD:20362,DDD:20367,dgv1100e199,dgv1101e199,esv2422111,DDD:20377,dgv1104e199,DDD:20389,esv2421657,CMRI:1_pbsv.DEL.547_duplicate4;po_B_loss_someG_coord=6:32516187-32521272,6:32516187-32521272,6:32514445-32563492,6:32516595-32541892,6:32516836-32541693,6:32424441-32685274,6:32439244-32570824,6:32440804-32557033,6:32454195-32517692,6:32454275-32571961,6:32474420-32578938,6:32478704-32517455,6:32490263-32526276,6:32497116-32571961,6:32454684-32541300;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.320;GC_content_right=0.315;Repeat_coord_left=6:32517278-32517636;Repeat_type_left=L1ME1;Repeat_coord_right=6:32517278-32517636;Repeat_type_right=L1ME1;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=.;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=. GT:FT:GQ:PL:PR 0/1:MinGQ:13:62,0,125:9,6 ./. +6 77000000 . T . . AnnotSV_ID=6_77000000_77005390_INV_1;SV_chrom=6;SV_start=77000000;SV_end=77005390;SV_length=5390.0;SV_type=INV;Samples_ID=sampleX;FORMAT=GT;sampleX=1/0;sample1=./.;Annotation_mode=full;CytoBand=q14.1;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15148895,dbVar:nssv15161859,nssv15161868,dbVar:nssv15166690,dbVar:nssv15166692,dbVar:nssv15168255,dbVar:nssv15606075,dbVar:nssv17970109;po_P_gain_coord=6:108666-170980171,6:156975-170919482,6:165632-170919470,6:29455465-81447367,6:60107-171054786,6:69938252-94379210,6:75092523-142361637;po_P_gain_percent=0.00,0.01,0.02;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15138420,dbVar:nssv15139907,dbVar:nssv15154430,dbVar:nssv16255333,dbVar:nssv17956905,dbVar:nssv17957115;po_P_loss_coord=6:65259548-84136510,6:70165296-79920769,6:72799054-83275894,6:73674612-84829774,6:74226559-80208037,6:76635916-93420511;po_P_loss_percent=0.03,0.05,0.06,0.09;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.385;GC_content_right=0.380;Repeat_coord_left=.;Repeat_type_left=.;Repeat_coord_right=6:77003261-77009393;Repeat_type_right=L1PA4;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=.;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=. GT 1/0 ./. +6 96497729 MantaINS:97901:0:0:0:0:0 C CATTTGCTGAGGAGTGCTTTACTTCCGATTATGTGGTCAATTTTAGAATAAGTGTGATGTGGTGCTGAGA 414 PASS AnnotSV_ID=6_96497729_96497730_INS_1|6_96497729_96497730_INS_1;SV_chrom=6|6;SV_start=96497729|96497729;SV_end=96497730|96497730;SV_length=69.0|69.0;SV_type=INS|INS;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=1/1:PASS:27:467,30,0:0,0:0,10|1/1:PASS:27:467,30,0:0,0:0,10;sample1=./.|./.;Annotation_mode=full&split;CytoBand=q16.1|q16.1;Gene_name=FUT9|FUT9;Gene_count=1.0|.;Tx=.|NM_006581;Tx_start=.|96463849.0;Tx_end=.|96663488.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|3.0;Location=.|intron1-intron1;Location2=.|5'UTR;Dist_nearest_SS=.|33641.0;Nearest_SS_type=.|5';Intersect_start=.|96497729.0;Intersect_end=.|96497730.0;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=dbVar:nssv15148895,dbVar:nssv15152931,dbVar:nssv15161859,nssv15161868,dbVar:nssv15166690,dbVar:nssv15166692,dbVar:nssv15168255|.;po_P_gain_coord=6:108666-170980171,6:156975-170919482,6:165632-170919470,6:60107-171054786,6:75092523-142361637,6:81261418-97796269|.;po_P_gain_percent=0.00|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15133711,dbVar:nssv15151866,dbVar:nssv15152934,dbVar:nssv16216866,dbVar:nssv17970123,dbVar:nssv17970126,dbVar:nssv17970127|.;po_P_loss_coord=6:84548022-99270189,6:85988428-120548687,6:92054891-118329651,6:92576950-104658245,6:94202605-109878834,6:95549951-116684929,6:96015038-97262669|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=6:96480001-97080000|6:96480001-97080000;ENCODE_experiment=ENCFF558RGV:ENCFF898HOT|ENCFF558RGV:ENCFF898HOT;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.335|.;GC_content_right=0.335|.;Repeat_coord_left=6:96497730-96497852|.;Repeat_type_left=MIRb|.;Repeat_coord_right=6:96497730-96497852|.;Repeat_type_right=MIRb|.;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=17.18|17.18;ExAC_delZ=0.203493554468148|0.203493554468148;ExAC_dupZ=0.416586884705537|0.416586884705537;ExAC_cnvZ=0.523741338778168|0.523741338778168;ExAC_synZ=-0.367062786358331|-0.367062786358331;ExAC_misZ=2.40364611506474|2.40364611506474;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|3.0;GnomAD_pLI=0.08318|0.08318;ExAC_pLI=0.081371|0.081371;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT:FT:GQ:PL:PR:SR 1/1:PASS:27:467,30,0:0,0:0,10 ./. +7 110276505 . A . . AnnotSV_ID=7_110276505_110276506_INS_1;SV_chrom=7;SV_start=110276505;SV_end=110276506;SV_length=.;SV_type=INS;Samples_ID=sample1;FORMAT=GT;sampleX=./.;sample1=0/1;Annotation_mode=full;CytoBand=q31.1;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15145249,dbVar:nssv15147343,dbVar:nssv15153681,dbVar:nssv15161666,nssv15161679,dbVar:nssv15168013,dbVar:nssv15168014,dbVar:nssv15777247,dbVar:nssv16206899,dbVar:nssv16208848,dbVar:nssv17970243;po_P_gain_coord=7:10365-159119707,7:106984287-128949489,7:10704-159122532,7:109251060-159119707,7:109594999-113885203,7:110149897-112423157,7:43361-159119707,7:44935-159126310,7:97049164-158716453,7:98693388-159119707;po_P_gain_percent=0.00;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15122028,dbVar:nssv15125914,dbVar:nssv15126350,dbVar:nssv15132621,dbVar:nssv15135220,dbVar:nssv15146938,dbVar:nssv15149094,dbVar:nssv15161318,dbVar:nssv15777267,dbVar:nssv16208150,dbVar:nssv17970239,dbVar:nssv17970240;po_P_loss_coord=7:100676872-119156160,7:101450429-112054905,7:101912320-120918695,7:105902385-110868092,7:106617406-123217914,7:107410314-117825549,7:107796645-123176581,7:107813257-111614970,7:108503008-114971787,7:109049659-111130658,7:54185-159075079,7:99417471-111586308;po_P_loss_percent=0.00;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=.;TAD_coordinate=7:110240001-110640000;ENCODE_experiment=ENCFF477VVJ;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.350;GC_content_right=0.345;Repeat_coord_left=7:110276590-110276648;Repeat_type_left=L2b;Repeat_coord_right=7:110276590-110276648;Repeat_type_right=L2b;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=.;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=. GT ./. 0/1 +9 86541032 MantaBND:132548:1:1:0:1:0:0 A [chr9:86540929[A 984 PASS AnnotSV_ID=9_86541032_86541033_[9_86540929[A_1;SV_chrom=9;SV_start=86541032;SV_end=86541033;SV_length=.;SV_type=[9:86540929[A;Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR:SR;sampleX=1/1:PASS:53:999,56,0:0,9:0,18;sample1=./.;Annotation_mode=full;CytoBand=q21.32;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15128159,dbVar:nssv15145918,dbVar:nssv15145998,dbVar:nssv15146171,nssv15147961,nssv15148277,dbVar:nssv15146549,dbVar:nssv15146780,nssv15152141,dbVar:nssv15146972,dbVar:nssv15147345,dbVar:nssv15147428,dbVar:nssv15147470,dbVar:nssv15148134,dbVar:nssv15148176,dbVar:nssv15150554,dbVar:nssv15151855,dbVar:nssv15152084,dbVar:nssv15153083,dbVar:nssv15168486,dbVar:nssv15168487,dbVar:nssv15168488,dbVar:nssv15169725,dbVar:nssv15605845,dbVar:nssv15775708,dbVar:nssv15777263,dbVar:nssv17970351,dbVar:nssv17970381;po_P_gain_coord=9:10590-141107672,9:10590-141114095,9:10590-141122247,9:12934-141153431,9:163131-141122114,9:203861-141020388,9:203861-141020389,9:203861-88189913,9:203861-90745359,9:203862-141020389,9:204090-141018976,9:204104-141053525,9:204193-141073897,9:214367-141008915,9:353349-141020389,9:46587-141066491,9:62525-141006407,9:68420641-141053525,9:70966262-90761254,9:71069743-140999928,9:71130848-109341774,9:71349994-122603410,9:71416475-141020389,9:72242558-114216584,9:79520825-97201274;po_P_gain_percent=0.00;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.395;GC_content_right=0.390;Repeat_coord_left=9:86540876-86541094,9:86541094-86541162;Repeat_type_left=AluSx,MER112;Repeat_coord_right=9:86540876-86541094,9:86541094-86541162;Repeat_type_right=AluSx,MER112;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=.;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=. GT:FT:GQ:PL:PR:SR 1/1:PASS:53:999,56,0:0,9:0,18 ./. +11 8818116 MantaBND:68648:0:1:0:0:0:1 G G[chr4:108408748[ 797 PASS AnnotSV_ID=11_8818116_8818117_G[4_108408748[_1|11_8818116_8818117_G[4_108408748[_1|11_8818116_8818117_G[4_108408748[_1;SV_chrom=11|11|11;SV_start=8818116|8818116|8818116;SV_end=8818117|8818117|8818117;SV_length=.|.|.;SV_type=G[4:108408748[|G[4:108408748[|G[4:108408748[;Samples_ID=sampleX|sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=0/1:PASS:225:847,0,222:9,5:17,23|0/1:PASS:225:847,0,222:9,5:17,23|0/1:PASS:225:847,0,222:9,5:17,23;sample1=./.|./.|./.;Annotation_mode=full&split;CytoBand=p15.4|p15.4|p15.4;Gene_name=DENND2B,LOC102724784|DENND2B|LOC102724784;Gene_count=2.0|.|.;Tx=.|NM_001376498|NR_120590;Tx_start=.|8714898.0|8790324.0;Tx_end=.|8832221.0|8831823.0;Overlapped_tx_length=.|1.0|1.0;Overlapped_CDS_length=.|0.0|0.0;Overlapped_CDS_percent=.|0.0|0.0;Frameshift=.|no|no;Exon_count=.|15.0|5.0;Location=.|intron1-intron1|intron4-intron4;Location2=.|5'UTR|UTR;Dist_nearest_SS=.|13946.0|9283.0;Nearest_SS_type=.|5'|5';Intersect_start=.|8818116.0|8818116.0;Intersect_end=.|8818117.0|8818117.0;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=dbVar:nssv15149913,dbVar:nssv15150306,nssv15150623,dbVar:nssv15150768,dbVar:nssv15150821,dbVar:nssv15153870,dbVar:nssv15153876,dbVar:nssv15153879,dbVar:nssv15158476,dbVar:nssv15161310,dbVar:nssv15161344,dbVar:nssv15171978,dbVar:nssv15605781,dbVar:nssv16208290|.|.;po_P_gain_coord=11:193146-12643136,11:198510-134934063,11:230615-17099213,11:230615-25584362,11:230615-31995219,11:230615-37698540,11:230615-9704511,11:230616-134938470,11:235934-33826995,11:446754-18926289,11:61793-10749516,11:6969013-9257231,11:70864-134938470|.|.;po_P_gain_percent=0.00|.|.;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=.|.|.;TAD_coordinate=.|.|.;ENCODE_experiment=.|.|.;Cosmic_ID=.|.|.;Cosmic_mut_typ=.|.|.;GC_content_left=0.410|.|.;GC_content_right=0.405|.|.;Repeat_coord_left=11:8817806-8818096|.|.;Repeat_type_left=AluSx|.|.;Repeat_coord_right=11:8817806-8818096|.|.;Repeat_type_right=AluSx|.|.;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=.|.|.;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=.|full=NA|full=NA GT:FT:GQ:PL:PR:SR 0/1:PASS:225:847,0,222:9,5:17,23 ./. +11 38989189 MantaDEL:150564:0:1:0:0:0 CTTTCTTTCTTTTTCGTTTCCTTCCTTCCTTCCATGCTTCCTTCCTTCCTGCCTGCCTTTTTTTTTT C 345 PASS AnnotSV_ID=11_38989189_38989255_DEL_1;SV_chrom=11;SV_start=38989189;SV_end=38989255;SV_length=-66.0;SV_type=DEL;Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR:SR;sampleX=0/1:PASS:92:395,0,89:4,0:9,11;sample1=./.;Annotation_mode=full;CytoBand=p12;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15150306,nssv15150623,dbVar:nssv15158476,dbVar:nssv15171978;po_P_gain_coord=11:198510-134934063,11:230616-134938470,11:70864-134938470;po_P_gain_percent=0.00;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15136152,dbVar:nssv15147690,dbVar:nssv15150227,dbVar:nssv15161504,dbVar:nssv16867095;po_P_loss_coord=11:11835569-118373112,11:27588560-41770792,11:30615127-40606139,11:35685126-46981371,11:36028927-40339674;po_P_loss_percent=0.00;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.485;GC_content_right=0.395;Repeat_coord_left=11:38988916-38989219;Repeat_type_left=AluY;Repeat_coord_right=11:38988916-38989219;Repeat_type_right=AluY;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=.;OMIM_ID=.;OMIM_phenotype=.;OMIM_inheritance=.;OMIM_morbid=.;OMIM_morbid_candidate=.;LOEUF_bin=.;GnomAD_pLI=.;ExAC_pLI=.;AnnotSV_ranking_score=-0.6;AnnotSV_ranking_criteria=1B_(cf_Gene_count,_RE_gene,_-0.60),2B_(cf_po_P_loss_source,_HI_and_OMIM_morbid,_+0.00),3A_(0_gene,_+0.00),5F_(+0.00);ACMG_class=3 GT:FT:GQ:PL:PR:SR 0/1:PASS:92:395,0,89:4,0:9,11 ./. +11 66287088 . A . . AnnotSV_ID=11_66287088_66287089_DEL_1|11_66287088_66287089_DEL_1;SV_chrom=11|11;SV_start=66287088|66287088;SV_end=66287089|66287089;SV_length=-1.0|-1.0;SV_type=DEL|DEL;Samples_ID=sample1|sample1;FORMAT=GT|GT;sampleX=./.|./.;sample1=0/1|0/1;Annotation_mode=full&split;CytoBand=q13.2|q13.2;Gene_name=BBS1|BBS1;Gene_count=1.0|.;Tx=.|NM_024649;Tx_start=.|66278105.0;Tx_end=.|66301069.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|1.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|yes;Exon_count=.|17.0;Location=.|exon8-exon8;Location2=.|CDS;Dist_nearest_SS=.|1.0;Nearest_SS_type=.|3';Intersect_start=.|66287088.0;Intersect_end=.|66287089.0;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=dbVar:nssv15146474,dbVar:nssv15150306,nssv15150623,dbVar:nssv15150659,dbVar:nssv15158476,dbVar:nssv15171978,dbVar:nssv15605814,dbVar:nssv17973682|.;po_P_gain_coord=11:198510-134934063,11:230616-134938470,11:64501919-67129258,11:65138976-67574402,11:65960973-67658241,11:66281867-66288857,11:70864-134938470|.;po_P_gain_percent=0.00,0.01|.;po_P_loss_phen=Bardet-Biedl_syndrome_1,_209900_(3)_AR,Digenic_recessive|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15129970,dbVar:nssv15148225,dbVar:nssv16212285,dbVar:nssv16212781,dbVar:nssv16214536,dbVar:nssv16867095,dbVar:nssv17171795,dbVar:nssv17172605,dbVar:nssv17971967,dbVar:nssv17974991,morbid:BBS1|.;po_P_loss_coord=11:11835569-118373112,11:65508902-67473140,11:66274840-66292574,11:66278105-66301069,11:66278111-66291373,11:66278111-66299528,11:66278121-66291363,11:66278121-66291682,11:66283001-66287229,11:66283154-66287229,11:66287078-66288857|.;po_P_loss_percent=0.00,0.01,0.02,0.06|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.565|.;GC_content_right=0.565|.;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=40.7|40.7;ExAC_delZ=-0.648300458519823|-0.648300458519823;ExAC_dupZ=0.663432885116562|0.663432885116562;ExAC_cnvZ=0.155145712015149|0.155145712015149;ExAC_synZ=0.0819191978639822|0.0819191978639822;ExAC_misZ=0.0377121632347663|0.0377121632347663;GenCC_disease=.|Bardet-Biedl_syndrome,Bardet-Biedl_syndrome_1;GenCC_moi=.|AR;GenCC_classification=.|Definitive,Strong,Supportive;GenCC_pmid=.|20301537[PMID];OMIM_ID=209901|209901;OMIM_phenotype=.|Bardet-Biedl_syndrome_1,_209900_(3)_AR,Digenic_recessive;OMIM_inheritance=.|AR,Digenic_recessive;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|5.0;GnomAD_pLI=3.4063e-12|3.4063e-12;ExAC_pLI=1.7787e-07|1.7787e-07;AnnotSV_ranking_score=0.9|.;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00),2E-1_(BBS1,_+0.90),3A_(1_gene,_+0.00),5F_(+0.00)|.;ACMG_class=4|full=4 GT ./. 0/1 +11 90159990 MantaINS:154269:0:0:0:0:0 A AGCACTTGAGCCTGGCCAACAAGACTGAAACTCCATCTAAAAAAAAAAAAAAAAAAAAAATAGGGTAATTTAC 132 PASS AnnotSV_ID=11_90159990_90159991_INS_1|11_90159990_90159991_INS_1;SV_chrom=11|11;SV_start=90159990|90159990;SV_end=90159991|90159991;SV_length=72.0|72.0;SV_type=INS|INS;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=0/1:PASS:16:182,0,13:0,0:3,22|0/1:PASS:16:182,0,13:0,0:3,22;sample1=./.|./.;Annotation_mode=full&split;CytoBand=q14.3|q14.3;Gene_name=DISC1FP1|DISC1FP1;Gene_count=1.0|.;Tx=.|NR_104190;Tx_start=.|89984399.0;Tx_end=.|90648220.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|7.0;Location=.|intron1-intron1;Location2=.|UTR;Dist_nearest_SS=.|119930.0;Nearest_SS_type=.|3';Intersect_start=.|90159990.0;Intersect_end=.|90159991.0;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=dbVar:nssv15150306,nssv15150623,dbVar:nssv15153881,dbVar:nssv15158476,dbVar:nssv15171776,dbVar:nssv15171978,dbVar:nssv16207107|.;po_P_gain_coord=11:198510-134934063,11:230616-134938470,11:70864-134938470,11:71588805-116680918,11:83179196-94716998,11:84830143-92029933|.;po_P_gain_percent=0.00|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15125487,dbVar:nssv15131270,dbVar:nssv15145765,dbVar:nssv15150613,dbVar:nssv15157249,dbVar:nssv15161277,dbVar:nssv15161308,dbVar:nssv16867095,dbVar:nssv17969476,dbVar:nssv17969477,dbVar:nssv17969478|.;po_P_loss_coord=11:11835569-118373112,11:75652798-98228688,11:77855209-98002445,11:77943882-106650146,11:80053454-113316236,11:80318996-96116221,11:81771852-90851187,11:84924674-93574799,11:84953891-102738968,11:88152458-109414650,11:88156563-114491338|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.270|.;GC_content_right=0.265|.;Repeat_coord_left=11:90159636-90159995,11:90160059-90160120|.;Repeat_type_left=MSTA,AT_rich|.;Repeat_coord_right=11:90159636-90159995,11:90160059-90160120|.;Repeat_type_right=MSTA,AT_rich|.;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=.|.;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=.|full=NA GT:FT:GQ:PL:PR:SR 0/1:PASS:16:182,0,13:0,0:3,22 ./. +11 131266685 MantaDEL:157331:0:0:0:0:2 TACACTGCATATATATACAGATATATACAGTGTATATATATACAGATATATGCAGTGTATATATATACAGTGTATATATATACAGATATATGCAGTGTATATATATACAGTGTATATATATACGTT TGCA 222 PASS AnnotSV_ID=11_131266685_131266807_DEL_1|11_131266685_131266807_DEL_1;SV_chrom=11|11;SV_start=131266685|131266685;SV_end=131266807|131266807;SV_length=-122.0|-122.0;SV_type=DEL|DEL;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=0/1:PASS:35:272,0,32:1,0:6,8|0/1:PASS:35:272,0,32:1,0:6,8;sample1=./.|./.;Annotation_mode=full&split;CytoBand=q25|q25;Gene_name=NTM|NTM;Gene_count=1.0|.;Tx=.|NM_001048209;Tx_start=.|131240509.0;Tx_end=.|132206716.0;Overlapped_tx_length=.|122.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|8.0;Location=.|intron1-intron1;Location2=.|CDS;Dist_nearest_SS=.|25902.0;Nearest_SS_type=.|5';Intersect_start=.|131266685.0;Intersect_end=.|131266807.0;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=dbVar:nssv15128281,dbVar:nssv15132362,dbVar:nssv15132473,nssv15140022,dbVar:nssv15133110,dbVar:nssv15133414,dbVar:nssv15134443,dbVar:nssv15142325,dbVar:nssv15146478,dbVar:nssv15147371,dbVar:nssv15148856,dbVar:nssv15150306,nssv15150623,dbVar:nssv15150780,nssv15153880,dbVar:nssv15157275,dbVar:nssv15157883,dbVar:nssv15158476,dbVar:nssv15160811,dbVar:nssv15171978,dbVar:nssv15606059,dbVar:nssv15606089,dbVar:nssv15772688,dbVar:nssv17955616|.;po_P_gain_coord=11:100219331-134910140,11:104288964-134937416,11:116676984-134945165,11:116681007-134938470,11:116691675-134889485,11:116697066-134934063,11:116700253-134904063,11:116722088-134868420,11:116722111-134868407,11:116739651-134945165,11:117830263-134938470,11:118660474-134868407,11:118898188-134946516,11:119054729-134946516,11:120107141-134910140,11:122884694-134938470,11:126315700-134868407,11:126362042-134938470,11:198510-134934063,11:230616-134938470,11:70864-134938470|.;po_P_gain_percent=0.00|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15124336,dbVar:nssv15126979,dbVar:nssv15129449,dbVar:nssv15132067,dbVar:nssv15132600,dbVar:nssv15132614,dbVar:nssv15132753,dbVar:nssv15133149,dbVar:nssv15133176,dbVar:nssv15134309,dbVar:nssv15134314,dbVar:nssv15134315,dbVar:nssv15134800,dbVar:nssv15135035,dbVar:nssv15137036,dbVar:nssv15137615,dbVar:nssv15137682,dbVar:nssv15139488,dbVar:nssv15139559,dbVar:nssv15139665,dbVar:nssv15139751,dbVar:nssv15139776,dbVar:nssv15142089,dbVar:nssv15142150,dbVar:nssv15142158,dbVar:nssv15142376,dbVar:nssv15142485,dbVar:nssv15145868,dbVar:nssv15145880,dbVar:nssv15145891,dbVar:nssv15145899,dbVar:nssv15145911,dbVar:nssv15146733,dbVar:nssv15147420,dbVar:nssv15147462,dbVar:nssv15148132,dbVar:nssv15148876,dbVar:nssv15148965,dbVar:nssv15150835,dbVar:nssv15153875,dbVar:nssv15153878,dbVar:nssv15155376,dbVar:nssv15171840,dbVar:nssv15606041,dbVar:nssv15755693,dbVar:nssv15776136,dbVar:nssv16207649,dbVar:nssv16208319,dbVar:nssv16208320,dbVar:nssv16253911,dbVar:nssv16254846,dbVar:nssv16254848|.;po_P_loss_coord=11:119295007-134945165,11:119304619-134868407,11:119538664-134938470,11:119807473-134868407,11:120377974-134446160,11:120386468-134945165,11:120527021-134938470,11:120576984-134934063,11:120615374-134868407,11:120742540-134938470,11:121136603-134938470,11:121416261-134938470,11:121482185-134938470,11:121501072-134868348,11:121559760-134945165,11:121651167-134945165,11:121677255-134938470,11:121679628-134946516,11:123670646-134868420,11:123833781-134945165,11:123860285-134868407,11:124026430-134868407,11:124075932-134868420,11:124184921-134688010,11:124226940-134944477,11:124232608-134938470,11:124809955-134945165,11:125111368-134868407,11:125366454-134938470,11:125446101-134904063,11:125785487-134938470,11:125916253-134868407,11:125916253-134945165,11:125937383-134934063,11:126069484-134945165,11:126303635-134910140,11:126631558-134868407,11:126762944-134938470,11:127434377-134945165,11:127474555-134868348,11:127602115-134938470,11:127690585-132404117,11:127785859-134938470,11:128737841-132956893,11:129072293-134938470,11:129570431-134868407,11:129721809-134938470,11:129930187-134910140,11:130128323-134938470,11:130576399-134945165,11:130969272-134938470,11:131081923-134945165|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.480|.;GC_content_right=0.390|.;Repeat_coord_left=11:131266441-131266740,11:131266761-131266838|.;Repeat_type_left=AluSg4,MIR3|.;Repeat_coord_right=11:131266441-131266740,11:131266761-131266838|.;Repeat_type_right=AluSg4,MIR3|.;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=0.65|0.65;ExAC_delZ=1.22911575018949|1.22911575018949;ExAC_dupZ=0.061595233646256|0.061595233646256;ExAC_cnvZ=0.509899436302223|0.509899436302223;ExAC_synZ=0.966964703362469|0.966964703362469;ExAC_misZ=1.88690816047875|1.88690816047875;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|3.0;GnomAD_pLI=0.057798|0.057798;ExAC_pLI=0.52537|0.52537;AnnotSV_ranking_score=0.0|.;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00),2B_(cf_po_P_loss_source,_HI_and_OMIM_morbid,_+0.00),3A_(1_gene,_+0.00),5F_(+0.00)|.;ACMG_class=3|full=3 GT:FT:GQ:PL:PR:SR 0/1:PASS:35:272,0,32:1,0:6,8 ./. +12 93484972 MantaINS:164269:0:0:0:0:0 ACAC ATATATATATACATATATATACATATATATATATACACACATATATATACATATATATATATACACATATATCTATACATATATATATAT 268 PASS AnnotSV_ID=12_93484972_93484973_INS_1|12_93484972_93484973_INS_1;SV_chrom=12|12;SV_start=93484972|93484972;SV_end=93484973|93484973;SV_length=86.0|86.0;SV_type=INS|INS;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=1/1:PASS:23:321,26,0:0,0:0,21|1/1:PASS:23:321,26,0:0,0:0,21;sample1=./.|./.;Annotation_mode=full&split;CytoBand=q22|q22;Gene_name=LOC643339|LOC643339;Gene_count=1.0|.;Tx=.|NR_040096;Tx_start=.|93397533.0;Tx_end=.|93771512.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|5.0;Location=.|intron3-intron3;Location2=.|UTR;Dist_nearest_SS=.|86598.0;Nearest_SS_type=.|3';Intersect_start=.|93484972.0;Intersect_end=.|93484973.0;RE_gene=CRADD_(morbid/RE=EA_enhancer)|.;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=dbVar:nssv15137772,dbVar:nssv15161414,nssv15161422,dbVar:nssv15161620,dbVar:nssv15161798,dbVar:nssv15171852,dbVar:nssv15171855|.;po_P_gain_coord=12:1-133851895,12:173787-133777902,12:191619-133777645,12:282465-133773393,12:621220-133779118,12:91438095-109571015|.;po_P_gain_percent=0.00|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15136150,dbVar:nssv15775824|.;po_P_loss_coord=12:77737623-94330526,12:91390285-95266594|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.420|.;GC_content_right=0.420|.;Repeat_coord_left=12:93484853-93484892|.;Repeat_type_left=(CA)n|.;Repeat_coord_right=12:93484853-93484892|.;Repeat_type_right=(CA)n|.;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=.|.;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=.|full=NA GT:FT:GQ:PL:PR:SR 1/1:PASS:23:321,26,0:0,0:0,21 ./. +12 114828444 MantaINS:165814:0:0:0:2:0 A 975 PASS AnnotSV_ID=12_114828444_114828445_INS_1|12_114828444_114828445_INS_1;SV_chrom=12|12;SV_start=114828444|114828444;SV_end=114828445|114828445;SV_length=.|.;SV_type=INS|INS;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=0/1:PASS:96:999,0,93:7,2:12,25|0/1:PASS:96:999,0,93:7,2:12,25;sample1=./.|./.;Annotation_mode=full&split;CytoBand=q24.21|q24.21;Gene_name=TBX5|TBX5;Gene_count=1.0|.;Tx=.|NM_181486;Tx_start=.|114791715.0;Tx_end=.|114843949.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|9.0;Location=.|intron6-intron6;Location2=.|CDS;Dist_nearest_SS=.|4100.0;Nearest_SS_type=.|5';Intersect_start=.|114828444.0;Intersect_end=.|114828445.0;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=dbVar:nssv15148260,dbVar:nssv15161414,nssv15161422,dbVar:nssv15161620,dbVar:nssv15161798,dbVar:nssv15171852,dbVar:nssv15171855,dbVar:nssv17955471|.;po_P_gain_coord=12:1-133851895,12:114706208-133777902,12:114795705-114844082,12:173787-133777902,12:191619-133777645,12:282465-133773393,12:621220-133779118|.;po_P_gain_percent=0.00|.;po_P_loss_phen=Holt-Oram_syndrome,_142900_(3)_AD|.;po_P_loss_hpo=.|.;po_P_loss_source=HI3:TBX5,dbVar:nssv15130888,dbVar:nssv15134545,dbVar:nssv16208355,dbVar:nssv17969555,dbVar:nssv17974049,morbid:TBX5|.;po_P_loss_coord=12:113120652-115362584,12:113445811-114933860,12:114756557-114871208,12:114791734-114846247,12:114791735-114846247,12:114793317-114841723,12:114828057-114832670|.;po_P_loss_percent=0.00,0.02|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.340|.;GC_content_right=0.345|.;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=3.0|3.0;TS=.|0.0;DDD_HI_percent=1.67|1.67;ExAC_delZ=0.854164823695449|0.854164823695449;ExAC_dupZ=0.731254388334815|0.731254388334815;ExAC_cnvZ=0.978219184986827|0.978219184986827;ExAC_synZ=-0.479555179405314|-0.479555179405314;ExAC_misZ=1.80496983562237|1.80496983562237;GenCC_disease=.|Holt-Oram_syndrome,heart_conduction_disease;GenCC_moi=.|AD;GenCC_classification=.|Definitive,Moderate,Supportive;GenCC_pmid=.|20301290[PMID];OMIM_ID=601620|601620;OMIM_phenotype=.|Holt-Oram_syndrome,_142900_(3)_AD;OMIM_inheritance=.|AD;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|0.0;GnomAD_pLI=0.99954|0.99954;ExAC_pLI=0.99188|0.99188;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT:FT:GQ:PL:PR:SR 0/1:PASS:96:999,0,93:7,2:12,25 ./. +13 86026500 MantaDEL:172523:0:0:0:0:0 CCATCATATATATATATATATATATATATATATATGATGGAAATTTTGACTTTTAAAA C 663 PASS AnnotSV_ID=13_86026500_86026557_DEL_1|13_86026500_86026557_DEL_1;SV_chrom=13|13;SV_start=86026500|86026500;SV_end=86026557|86026557;SV_length=-57.0|-57.0;SV_type=DEL|DEL;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=1/1:PASS:44:716,47,0:2,0:0,19|1/1:PASS:44:716,47,0:2,0:0,19;sample1=./.|./.;Annotation_mode=full&split;CytoBand=q31.1|q31.1;Gene_name=LINC00351|LINC00351;Gene_count=1.0|.;Tx=.|NR_046989;Tx_start=.|85937737.0;Tx_end=.|86118797.0;Overlapped_tx_length=.|57.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|4.0;Location=.|intron1-intron1;Location2=.|UTR;Dist_nearest_SS=.|80653.0;Nearest_SS_type=.|3';Intersect_start=.|86026500.0;Intersect_end=.|86026557.0;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=dbVar:nssv15142163,dbVar:nssv15143090,dbVar:nssv15145994,dbVar:nssv15146345,dbVar:nssv15147469,dbVar:nssv15147525,dbVar:nssv15148482,dbVar:nssv15150774,dbVar:nssv15150852,dbVar:nssv15151103,dbVar:nssv15152362,dbVar:nssv15161082,dbVar:nssv15161090,dbVar:nssv15161108,nssv15776345,nssv17957159,nssv17969572,dbVar:nssv15161263,nssv15161581,dbVar:nssv15161295,dbVar:nssv15161296,nssv15161378,dbVar:nssv15161297,dbVar:nssv15161298,dbVar:nssv15161365,dbVar:nssv15161415,dbVar:nssv15161430,dbVar:nssv15161513,dbVar:nssv15161646,dbVar:nssv15161659,dbVar:nssv15161661,nssv15161681,dbVar:nssv15161751,dbVar:nssv15161752,dbVar:nssv15161763,dbVar:nssv15161793,dbVar:nssv15161837,dbVar:nssv15162474,dbVar:nssv15172692,dbVar:nssv15772623,dbVar:nssv17059476,dbVar:nssv17955548,dbVar:nssv17956080,dbVar:nssv17969571,dbVar:nssv17969599,dbVar:nssv17969607,dbVar:nssv17969609|.;po_P_gain_coord=13:1-115169878,13:19030180-115105760,13:19031237-115107157,13:19053605-115108528,13:19058717-115103529,13:19139188-115085141,13:19296527-115085141,13:19436286-114981726,13:19436286-115107733,13:19436287-115107733,13:19520322-115070103,13:19571503-115092510,13:19571503-115092569,13:20246074-115085141,13:20407270-115064089,13:20407270-115085141,13:20411535-115085141,13:31937609-91227546,13:33105623-87409299,13:34102234-115085141,13:42504540-108206269,13:44738887-115085141,13:45307182-115085141,13:53932358-96586363,13:56431743-115107733,13:61424168-115107733,13:61775567-115107733,13:68624430-115092648,13:71871468-115107733,13:78514567-115107733,13:78590089-115107733,13:79538358-115085141,13:79573453-115085141,13:80058840-115107733,13:82221361-115092569,13:82607073-106734891,13:83435292-115107733,13:83862266-115107733,13:84619041-115092648,13:85037147-115107733,13:85176519-115107733|.;po_P_gain_percent=0.00|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15120288,dbVar:nssv15134931,dbVar:nssv15136635,dbVar:nssv15140176,dbVar:nssv15149514,dbVar:nssv15158016,dbVar:nssv15161035,dbVar:nssv15161128,dbVar:nssv15161314,dbVar:nssv15161334,dbVar:nssv15161434,dbVar:nssv15161542,dbVar:nssv15161647,dbVar:nssv15161772,dbVar:nssv15161875,dbVar:nssv15161906,dbVar:nssv15172817,dbVar:nssv16208363,dbVar:nssv16208365,dbVar:nssv16208368,dbVar:nssv17957149,dbVar:nssv17969593,dbVar:nssv17969606,dbVar:nssv17969608|.;po_P_loss_coord=13:19020001-115085141,13:41516434-115085141,13:42457841-91796698,13:45541658-93390421,13:47542215-88034240,13:51512603-91631111,13:53262013-115107733,13:53551300-109850651,13:57058434-94684615,13:59574760-89410027,13:66895130-88507684,13:71502357-86571730,13:72013791-88021559,13:74459395-93481294,13:75574661-87784831,13:76942604-90660121,13:77635915-93112659,13:78878937-91936194,13:78923261-95354098,13:79370012-115107733,13:80572498-108719528,13:81851091-102864674,13:84579399-93436266,13:85005334-92461147|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.260|.;GC_content_right=0.320|.;Repeat_coord_left=13:86026461-86026795|.;Repeat_type_left=LTR34|.;Repeat_coord_right=13:86026461-86026795|.;Repeat_type_right=LTR34|.;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=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|.;GnomAD_pLI=.|.;ExAC_pLI=.|.;AnnotSV_ranking_score=0.0|.;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00),2B_(cf_po_P_loss_source,_HI_and_OMIM_morbid,_+0.00),3A_(1_gene,_+0.00),5F_(+0.00)|.;ACMG_class=3|full=3 GT:FT:GQ:PL:PR:SR 1/1:PASS:44:716,47,0:2,0:0,19 ./. +14 34988579 MantaINS:81864:2:2:0:0:0 ATATAT AAAAAAATATATATATATATAACATATATATATATATAACATATATATAACATATATATATATAACATATATATAAC 266 PASS AnnotSV_ID=14_34988579_34988580_INS_1|14_34988579_34988580_INS_1;SV_chrom=14|14;SV_start=34988579|34988579;SV_end=34988580|34988580;SV_length=71.0|71.0;SV_type=INS|INS;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=1/1:PASS:18:319,21,0:0,0:0,10|1/1:PASS:18:319,21,0:0,0:0,10;sample1=./.|./.;Annotation_mode=full&split;CytoBand=q13.1|q13.1;Gene_name=EAPP|EAPP;Gene_count=1.0|.;Tx=.|NM_001318916;Tx_start=.|34985134.0;Tx_end=.|35008943.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|5.0;Location=.|intron4-intron4;Location2=.|3'UTR;Dist_nearest_SS=.|2787.0;Nearest_SS_type=.|3';Intersect_start=.|34988579.0;Intersect_end=.|34988580.0;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=dbVar:nssv15146403,dbVar:nssv15146564,dbVar:nssv15146758,dbVar:nssv15148269,dbVar:nssv15161067,dbVar:nssv15161107,nssv15161424,dbVar:nssv15161629,dbVar:nssv15161908,dbVar:nssv15162475,dbVar:nssv15162476,dbVar:nssv16207193|.;po_P_gain_coord=14:19000422-107289053,14:19280733-107287663,14:19327823-107287663,14:19794561-107234280,14:20468770-39453619,14:20490852-44562875,14:20511672-44829030,14:20511672-49111245,14:20511673-107285437,14:20619308-107263478,14:31139520-45459798|.;po_P_gain_percent=0.00|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15125670,dbVar:nssv15145699,dbVar:nssv15145700,dbVar:nssv15146746,dbVar:nssv15148040,dbVar:nssv15148193,dbVar:nssv15773180,dbVar:nssv16867366,dbVar:nssv17976070|.;po_P_loss_coord=14:20665104-45754005,14:21162263-50713602,14:24018169-42452605,14:30448939-35017859,14:30851760-38181546,14:31261477-45154334,14:33608925-44570367,14:34049147-49348823,14:34349618-42828688|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=14:34960001-36320000,14:34960001-36360000,14:34960001-39560000,14:34960001-39960000,14:34960001-45360000,14:34960001-45800000|14:34960001-36320000,14:34960001-36360000,14:34960001-39560000,14:34960001-39960000,14:34960001-45360000,14:34960001-45800000;ENCODE_experiment=ENCFF066NYU:ENCFF306YQN:ENCFF451MCF:ENCFF471EYL:ENCFF558RGV:ENCFF569KNS:ENCFF633ORE:ENCFF654GDV:ENCFF676WJO:ENCFF768YZZ:ENCFF784LMI:ENCFF898HOT:ENCFF938WXQ|ENCFF066NYU:ENCFF306YQN:ENCFF451MCF:ENCFF471EYL:ENCFF558RGV:ENCFF569KNS:ENCFF633ORE:ENCFF654GDV:ENCFF676WJO:ENCFF768YZZ:ENCFF784LMI:ENCFF898HOT:ENCFF938WXQ;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.525|.;GC_content_right=0.525|.;Repeat_coord_left=14:34988458-34988754|.;Repeat_type_left=AluSx|.;Repeat_coord_right=14:34988458-34988754|.;Repeat_type_right=AluSx|.;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=.|12.0;ExAC_delZ=-2.62354415217069|-2.62354415217069;ExAC_dupZ=-2.477299397459|-2.477299397459;ExAC_cnvZ=-2.47162789907313|-2.47162789907313;ExAC_synZ=0.0685501219102518|0.0685501219102518;ExAC_misZ=-0.679928922921563|-0.679928922921563;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|8.0;GnomAD_pLI=2.2259e-10|2.2259e-10;ExAC_pLI=2.7183e-05|2.7183e-05;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT:FT:GQ:PL:PR:SR 1/1:PASS:18:319,21,0:0,0:0,10 ./. +14 50000000 . A 9.6 PASS AnnotSV_ID=14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1|14_50000000_60000000__1;SV_chrom=14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14;SV_start=50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000|50000000;SV_end=60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000|60000000;SV_length=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;SV_type=|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||;Samples_ID=sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX;FORMAT=GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT;sampleX=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|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|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|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|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;sample1=./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.;Annotation_mode=full&split;CytoBand=q23.1-q21.3|q22.1|q23.1|q22.3|q21.3|q23.1|q23.1|q22.3|q22.1|q22.2|q23.1|q22.3|q21.3|q22.2|q22.2|q22.2|q23.1|q23.1|q22.1|q22.3|q21.3|q21.3|q22.1|q22.3|q22.3|q22.1|q22.1|q22.1|q22.1|q22.2|q22.2|q22.1|q22.1|q23.1|q22.1|q23.1|q23.1|q21.3|q21.3|q22.3|q22.3|q21.3|q23.1|q22.3|q23.1|q22.1|q22.3|q22.1|q23.1|q21.3|q21.3|q22.1|q22.1|q22.3|q22.1|q22.1|q21.3|q22.1-q21.3|q22.3|q21.3|q22.2|q21.3|q22.2|q21.3|q22.3|q21.3|q22.1|q22.1|q22.3|q22.3|q22.3|q21.3|q23.1|q23.1|q22.1|q22.1|q22.1|q22.1|q21.3|q21.3|q21.3|q22.3|q21.3|q21.3|q22.1|q22.2|q22.1|q23.1-q22.3|q22.3-q22.2|q21.3|q22.1|q22.3|q23.1|q22.3|q22.1|q23.1|q22.1|q22.1|q21.3|q22.2;Gene_name=ABHD12B,ACTR10,AP5M1,ARF6,ARID4A,ARMH4,ATG14,ATL1,BMP4,CCDC175,CCDC198,CDKL1,CDKN3,CGRRF1,CNIH1,DAAM1,DACT1,DDHD1,DLGAP5,DMAC2L,DNAAF2,ERO1A,EXOC5,FBXO34,FERMT2,FRMD6,FRMD6-AS1,FRMD6-AS2,GCH1,GMFB,GNG2,GNPNAT1,GPR135,GPR137C,JKAMP,KIAA0586,KLHDC1,KLHDC2,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LINC00216,LINC00519,LINC00520,LINC00640,LINC01500,LINC01588,LINC01599,LINC02310,LOC101927620,LOC101927690,LOC102723604,LOC105370489,LRR1,MAP4K5,MAPK1IP1L,MGAT2,MIR4308,MIR4504,MIR5580,MIR6076,NAA30,NEMF,NID2,NIN,OTX2,OTX2-AS1,PELI2,POLE2,PSMA3,PSMA3-AS1,PSMC6,PTGDR,PTGER2,PYGL,RN7SL1,RN7SL2,RN7SL3,RPL13AP3,RPL36AL,RPS29,RTRAF,SAMD4A,SAV1,SLC35F4,SOCS4,SOS2,STYX,TBPL2,TIMM9,TMEM260,TMX1,TOMM20L,TRIM9,TXNDC16,VCPKMT,WDHD1|ABHD12B|ACTR10|AP5M1|ARF6|ARID4A|ARMH4|ATG14|ATL1|BMP4|CCDC175|CCDC198|CDKL1|CDKN3|CGRRF1|CNIH1|DAAM1|DACT1|DDHD1|DLGAP5|DMAC2L|DNAAF2|ERO1A|EXOC5|FBXO34|FERMT2|FRMD6|FRMD6-AS1|FRMD6-AS2|GCH1|GMFB|GNG2|GNPNAT1|GPR135|GPR137C|JKAMP|KIAA0586|KLHDC1|KLHDC2|KTN1|KTN1-AS1|L2HGDH|L3HYPDH|LGALS3|LINC00216|LINC00519|LINC00520|LINC00640|LINC01500|LINC01588|LINC01599|LINC02310|LOC101927620|LOC101927690|LOC102723604|LOC105370489|LRR1|MAP4K5|MAPK1IP1L|MGAT2|MIR4308|MIR4504|MIR5580|MIR6076|NAA30|NEMF|NID2|NIN|OTX2|OTX2-AS1|PELI2|POLE2|PSMA3|PSMA3-AS1|PSMC6|PTGDR|PTGER2|PYGL|RN7SL1|RN7SL2|RN7SL3|RPL13AP3|RPL36AL|RPS29|RTRAF|SAMD4A|SAV1|SLC35F4|SOCS4|SOS2|STYX|TBPL2|TIMM9|TMEM260|TMX1|TOMM20L|TRIM9|TXNDC16|VCPKMT|WDHD1;Gene_count=99.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Tx=.|NM_001206673|NM_018477|NM_018229|NM_001663|NM_002892|NM_001001872|NM_014924|NM_015915|NM_001347912|NM_001164399|NM_001283056|NM_004196|NM_005192|NM_006568|NM_005776|NM_014992|NM_016651|NM_001160148|NM_014750|NM_001382509|NM_018139|NM_001382464|NM_006544|NM_017943|NM_001134999|NM_001267046|NR_037676|NR_051990|NM_001024024|NM_004124|NM_001243773|NM_198066|NM_022571|NM_001353361|NM_001284201|NM_001244189|NM_172193|NM_014315|NM_001079521|NR_027123|NM_024884|NM_144581|NM_001357678|NR_146595|NR_145423|NR_026796|NR_038358|NR_110547|NR_126498|NR_131171|NR_146549|NR_110062|NR_135241|NR_126331|NR_135258|NM_152329|NM_006575|NM_144578|NM_002408|NR_036194|NR_039726|NR_049843|NR_106724|NM_001011713|NM_004713|NM_007361|NM_020921|NM_021728|NR_029385|NM_021255|NM_002692|NM_002788|NR_029434|NM_002806|NM_000953|NM_000956|NM_002863|NR_002715|NR_027260|NR_145670|NR_004844|NM_001001|NM_001030001|NM_016039|NM_015589|NM_021818|NM_001306087|NM_080867|NM_006939|NM_001130701|NM_199047|NM_001304485|NM_017799|NM_030755|NM_207377|NM_015163|NM_020784|NM_024558|NM_007086;Tx_start=.|51338770.0|58666866.0|57735688.0|50359799.0|58765272.0|58467482.0|55833108.0|51026862.0|54416454.0|59971784.0|57936017.0|50792984.0|54863724.0|54976623.0|54890278.0|59730158.0|59104679.0|53503472.0|55614852.0|50778233.0|50091891.0|53106632.0|57667224.0|55738138.0|53323988.0|52118627.0|52116235.0|51921229.0|55308723.0|54941202.0|52327329.0|53241910.0|59927476.0|53019553.0|59951160.0|58894117.0|50159837.0|50234870.0|56046924.0|56042874.0|50709151.0|59939323.0|55595969.0|58754750.0|51771028.0|56247852.0|51800110.0|59295005.0|50448386.0|50474030.0|51858846.0|53620071.0|56981048.0|52382862.0|51288514.0|50065657.0|50885192.0|55518364.0|50087516.0|55344830.0|50766572.0|54415144.0|50433116.0|57857303.0|50248800.0|52471526.0|51186480.0|57266622.0|57279875.0|56585128.0|50110272.0|58711560.0|58732082.0|53173917.0|52734415.0|52781029.0|51371934.0|50053297.0|50329268.0|50320333.0|56232962.0|50085247.0|50037705.0|52456263.0|55033845.0|51100297.0|58030637.0|55493953.0|50583849.0|53196883.0|55880929.0|58875211.0|57046515.0|51706964.0|58862647.0|51441980.0|52897313.0|50575354.0|55405666.0;Tx_end=.|51371688.0|58702353.0|57765460.0|50363772.0|58840591.0|58618931.0|55878548.0|51099760.0|54423609.0|60043530.0|57960575.0|50863599.0|54886934.0|55006009.0|54908092.0|59838123.0|59115038.0|53620041.0|55658303.0|50794675.0|50101962.0|53162276.0|57735623.0|55820329.0|53417815.0|52197444.0|52118462.0|52066670.0|55369542.0|54955698.0|52436513.0|53258325.0|59932098.0|53104431.0|59972124.0|59018015.0|50219864.0|50253103.0|56151296.0|56046810.0|50778947.0|59951126.0|55612141.0|58755870.0|51795103.0|56263392.0|51832276.0|59484046.0|50474238.0|50571761.0|51863853.0|53624246.0|57018027.0|52385289.0|51290226.0|50081390.0|50999287.0|55536912.0|50090199.0|55344911.0|50766664.0|54415202.0|50433229.0|57882623.0|50319506.0|52535777.0|51297880.0|57277197.0|57398026.0|56768242.0|50154932.0|58738722.0|58764855.0|53195308.0|52743442.0|52795313.0|51411201.0|50053596.0|50329567.0|50320632.0|56234435.0|50087344.0|50053098.0|52477412.0|55260030.0|51135024.0|58332810.0|55516206.0|50698296.0|53241705.0|55907263.0|58894332.0|57116232.0|51724372.0|58875420.0|51562422.0|53019223.0|50583290.0|55493817.0;Overlapped_tx_length=.|32918.0|35487.0|29772.0|3973.0|75319.0|151449.0|45440.0|72898.0|7155.0|28216.0|24558.0|70615.0|23210.0|29386.0|17814.0|107965.0|10359.0|116569.0|43451.0|16442.0|10071.0|55644.0|68399.0|82191.0|93827.0|78817.0|2227.0|145441.0|60819.0|14496.0|109184.0|16415.0|4622.0|84878.0|20964.0|123898.0|60027.0|18233.0|104372.0|3936.0|69796.0|11803.0|16172.0|1120.0|24075.0|15540.0|32166.0|189041.0|25852.0|97731.0|5007.0|4175.0|36979.0|2427.0|1712.0|15733.0|114095.0|18548.0|2683.0|81.0|92.0|58.0|113.0|25320.0|70706.0|64251.0|111400.0|10575.0|118151.0|183114.0|44660.0|27162.0|32773.0|21391.0|9027.0|14284.0|39267.0|299.0|299.0|299.0|1473.0|2097.0|15393.0|21149.0|226185.0|34727.0|302173.0|22253.0|114447.0|44822.0|26334.0|19121.0|69717.0|17408.0|12773.0|120442.0|121910.0|7936.0|88151.0;Overlapped_CDS_length=.|1089.0|1254.0|1473.0|528.0|3774.0|2325.0|1479.0|1677.0|1368.0|759.0|1011.0|1074.0|639.0|999.0|435.0|3237.0|2511.0|2703.0|2541.0|603.0|2514.0|1446.0|2127.0|2136.0|2064.0|1869.0|0.0|0.0|753.0|429.0|216.0|555.0|1485.0|1338.0|978.0|4935.0|1221.0|1221.0|4074.0|0.0|1392.0|1065.0|795.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|1245.0|2541.0|738.0|1344.0|0.0|0.0|0.0|0.0|1089.0|3231.0|4128.0|6402.0|894.0|0.0|1263.0|1584.0|768.0|0.0|1170.0|1080.0|1077.0|2544.0|0.0|0.0|0.0|0.0|321.0|204.0|735.0|2157.0|1152.0|1458.0|1323.0|3999.0|672.0|1128.0|270.0|2124.0|843.0|459.0|2133.0|2478.0|690.0|3390.0;Overlapped_CDS_percent=.|100.0|100.0|100.0|15.0|100.0|100.0|100.0|100.0|100.0|31.0|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|66.0|100.0|100.0|0.0|0.0|100.0|100.0|100.0|100.0|90.0|100.0|100.0|100.0|100.0|100.0|100.0|0.0|100.0|100.0|100.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|0.0|100.0|100.0|100.0|60.0|0.0|0.0|0.0|0.0|100.0|100.0|100.0|100.0|100.0|0.0|100.0|100.0|100.0|0.0|100.0|100.0|100.0|100.0|0.0|0.0|0.0|0.0|89.0|100.0|100.0|100.0|100.0|100.0|20.0|100.0|100.0|100.0|100.0|100.0|100.0|100.0|100.0|100.0|100.0|100.0;Frameshift=.|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|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=.|13.0|13.0|8.0|2.0|24.0|8.0|10.0|14.0|4.0|20.0|7.0|10.0|8.0|6.0|5.0|25.0|4.0|13.0|19.0|5.0|3.0|17.0|18.0|2.0|16.0|14.0|1.0|3.0|7.0|7.0|4.0|6.0|1.0|8.0|7.0|34.0|13.0|13.0|44.0|3.0|10.0|5.0|7.0|1.0|2.0|4.0|5.0|6.0|4.0|9.0|4.0|3.0|2.0|3.0|2.0|4.0|32.0|4.0|1.0|1.0|1.0|1.0|1.0|5.0|33.0|22.0|31.0|5.0|4.0|6.0|19.0|11.0|5.0|14.0|2.0|2.0|20.0|1.0|1.0|1.0|1.0|2.0|3.0|8.0|13.0|5.0|8.0|2.0|23.0|12.0|7.0|5.0|16.0|8.0|5.0|10.0|21.0|6.0|26.0;Location=.|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|intron13-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|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=.|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|CDS-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|UTR|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|5'UTR-3'UTR|5'UTR-3'UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|UTR|UTR|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|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|UTR|UTR|UTR|UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|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;Dist_nearest_SS=.|.|.|.|.|.|.|.|.|.|1372.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Nearest_SS_type=.|.|.|.|.|.|.|.|.|.|3'|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Intersect_start=.|51338770.0|58666866.0|57735688.0|50359799.0|58765272.0|58467482.0|55833108.0|51026862.0|54416454.0|59971784.0|57936017.0|50792984.0|54863724.0|54976623.0|54890278.0|59730158.0|59104679.0|53503472.0|55614852.0|50778233.0|50091891.0|53106632.0|57667224.0|55738138.0|53323988.0|52118627.0|52116235.0|51921229.0|55308723.0|54941202.0|52327329.0|53241910.0|59927476.0|53019553.0|59951160.0|58894117.0|50159837.0|50234870.0|56046924.0|56042874.0|50709151.0|59939323.0|55595969.0|58754750.0|51771028.0|56247852.0|51800110.0|59295005.0|50448386.0|50474030.0|51858846.0|53620071.0|56981048.0|52382862.0|51288514.0|50065657.0|50885192.0|55518364.0|50087516.0|55344830.0|50766572.0|54415144.0|50433116.0|57857303.0|50248800.0|52471526.0|51186480.0|57266622.0|57279875.0|56585128.0|50110272.0|58711560.0|58732082.0|53173917.0|52734415.0|52781029.0|51371934.0|50053297.0|50329268.0|50320333.0|56232962.0|50085247.0|50037705.0|52456263.0|55033845.0|51100297.0|58030637.0|55493953.0|50583849.0|53196883.0|55880929.0|58875211.0|57046515.0|51706964.0|58862647.0|51441980.0|52897313.0|50575354.0|55405666.0;Intersect_end=.|51371688.0|58702353.0|57765460.0|50363772.0|58840591.0|58618931.0|55878548.0|51099760.0|54423609.0|60000000.0|57960575.0|50863599.0|54886934.0|55006009.0|54908092.0|59838123.0|59115038.0|53620041.0|55658303.0|50794675.0|50101962.0|53162276.0|57735623.0|55820329.0|53417815.0|52197444.0|52118462.0|52066670.0|55369542.0|54955698.0|52436513.0|53258325.0|59932098.0|53104431.0|59972124.0|59018015.0|50219864.0|50253103.0|56151296.0|56046810.0|50778947.0|59951126.0|55612141.0|58755870.0|51795103.0|56263392.0|51832276.0|59484046.0|50474238.0|50571761.0|51863853.0|53624246.0|57018027.0|52385289.0|51290226.0|50081390.0|50999287.0|55536912.0|50090199.0|55344911.0|50766664.0|54415202.0|50433229.0|57882623.0|50319506.0|52535777.0|51297880.0|57277197.0|57398026.0|56768242.0|50154932.0|58738722.0|58764855.0|53195308.0|52743442.0|52795313.0|51411201.0|50053596.0|50329567.0|50320632.0|56234435.0|50087344.0|50053098.0|52477412.0|55260030.0|51135024.0|58332810.0|55516206.0|50698296.0|53241705.0|55907263.0|58894332.0|57116232.0|51724372.0|58875420.0|51562422.0|53019223.0|50583290.0|55493817.0;RE_gene=ADAM22_(morbid/RE=mTL_miRNA),ADAR_(morbid/RE=mTL_miRNA),AGO2_(morbid/RE=mTL_miRNA),AGPS_(morbid/RE=mTL_miRNA),ANG_(morbid/RE=mTL_miRNA),AP1S2_(HI=3/morbid/RE=mTL_miRNA),ARSA_(morbid/RE=mTL_miRNA),ATP7A_(HI=3/morbid/RE=mTL_miRNA),ATXN1_(morbid/RE=mTL_miRNA),ATXN3_(morbid/RE=mTL_miRNA),BACH1_(morbid/RE=mTL_miRNA),BACH2_(morbid/RE=mTL_miRNA),CACNA1B_(morbid/RE=mTL_miRNA),CALM2_(morbid/RE=mTL_miRNA),CDC73_(HI=3/morbid/RE=mTL_miRNA),CFL2_(morbid/RE=mTL_miRNA),CLCN7_(morbid/RE=mTL_miRNA),CNKSR2_(HI=3/morbid/RE=mTL_miRNA),COCH_(morbid/RE=mTL_miRNA),COL4A1_(morbid/RE=mTL_miRNA),CYCS_(morbid/RE=mTL_miRNA),CYLD_(HI=3/morbid/RE=mTL_miRNA),DCAF17_(morbid/RE=mTL_miRNA),DDX11_(morbid/RE=mTL_miRNA),DPM2_(morbid/RE=mTL_miRNA),EIF2B1_(morbid/RE=mTL_miRNA),EXOC7_(morbid/RE=mTL_miRNA),FOXG1_(HI=3/morbid/RE=mTL_miRNA),FREM2_(morbid/RE=mTL_miRNA),GATA6_(HI=3/morbid/RE=mTL_miRNA),GCK_(morbid/RE=mTL_miRNA),GFRA1_(morbid/RE=mTL_miRNA),GTPBP2_(morbid/RE=mTL_miRNA),HID1_(morbid/RE=mTL_miRNA),HOXA13_(morbid/RE=mTL_miRNA),IDS_(HI=3/morbid/RE=mTL_miRNA),IKBKG_(HI=3/morbid/RE=mTL_miRNA),IL21R_(morbid/RE=mTL_miRNA),IRAK4_(morbid/RE=mTL_miRNA),IREB2_(morbid/RE=mTL_miRNA),ITPA_(morbid/RE=mTL_miRNA),KAT6A_(HI=3/morbid/RE=mTL_miRNA),KCNB1_(morbid/RE=mTL_miRNA),KCNJ6_(morbid/RE=mTL_miRNA),KDM6B_(morbid/RE=mTL_miRNA),KIT_(morbid/RE=mTL_miRNA),KLHL15_(morbid/RE=mTL_miRNA),L1CAM_(HI=3/morbid/RE=mTL_miRNA),MAPK8IP3_(morbid/RE=mTL_miRNA),MED13_(morbid/RE=mTL_miRNA),MFF_(morbid/RE=mTL_miRNA),MMADHC_(morbid/RE=mTL_miRNA),MPZ_(morbid/RE=mTL_miRNA),MYPN_(morbid/RE=mTL_miRNA),NCAPG2_(morbid/RE=mTL_miRNA),NCKAP1L_(morbid/RE=mTL_miRNA),NDUFA12_(morbid/RE=mTL_miRNA),NDUFS1_(morbid/RE=mTL_miRNA),NEXMIF_(HI=3/morbid/RE=mTL_miRNA),NFIX_(HI=3/morbid/RE=mTL_miRNA),NHLRC2_(morbid/RE=mTL_miRNA),NHS_(HI=3/morbid/RE=mTL_miRNA),NIPA1_(morbid/RE=mTL_miRNA),NR3C1_(morbid/RE=mTL_miRNA),OPA3_(morbid/RE=mTL_miRNA),P4HB_(morbid/RE=mTL_miRNA),PACS2_(morbid/RE=mTL_miRNA),PCGF2_(morbid/RE=mTL_miRNA),PDE3A_(morbid/RE=mTL_miRNA),PEX26_(morbid/RE=mTL_miRNA),PHEX_(HI=3/morbid/RE=mTL_miRNA),PIGQ_(morbid/RE=mTL_miRNA),PIK3CG_(morbid/RE=mTL_miRNA),PIK3R1_(morbid/RE=mTL_miRNA),PNP_(morbid/RE=mTL_miRNA),PRDX3_(morbid/RE=mTL_miRNA),PRR12_(morbid/RE=mTL_miRNA),PTPN14_(morbid/RE=mTL_miRNA),PURA_(HI=3/morbid/RE=mTL_miRNA),RAI1_(HI=3/morbid/RE=mTL_miRNA),RFT1_(morbid/RE=mTL_miRNA),RORA_(morbid/RE=mTL_miRNA),RPS14_(morbid/RE=mTL_miRNA),RPS28_(morbid/RE=mTL_miRNA),RRAS2_(morbid/RE=mTL_miRNA),RUNX1_(HI=3/morbid/RE=mTL_miRNA),SASH1_(morbid/RE=mTL_miRNA),SDHAF2_(HI=3/morbid/RE=mTL_miRNA),SERPINH1_(morbid/RE=mTL_miRNA),SH3TC2_(morbid/RE=mTL_miRNA),SLC12A2_(morbid/RE=mTL_miRNA),SLC25A12_(morbid/RE=mTL_miRNA),SOX5_(HI=3/morbid/RE=mTL_miRNA),SPPL2A_(morbid/RE=mTL_miRNA),SRP54_(morbid/RE=mTL_miRNA),SRP72_(morbid/RE=mTL_miRNA),TCF3_(morbid/RE=mTL_miRNA),TEAD1_(morbid/RE=mTL_miRNA),THSD4_(morbid/RE=mTL_miRNA),TIMM8A_(HI=3/morbid/RE=mTL_miRNA),TMEM94_(morbid/RE=mTL_miRNA),UBE2A_(HI=3/morbid/RE=mTL_miRNA),UNG_(morbid/RE=mTL_miRNA),WNK1_(morbid/RE=mTL_miRNA),ZBTB16_(morbid/RE=mTL_miRNA),ZBTB20_(morbid/RE=mTL_miRNA),ZMYM2_(morbid/RE=mTL_miRNA)|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_gain_phen=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_gain_hpo=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_gain_source=dbVar:nssv16214425|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|dbVar:nssv16214425|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_gain_coord=14:58915038-58917484|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|14:58915038-58917484|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_loss_phen=Ciliary_dyskinesia,_primary,_10,_612518_(3)_AR,Congenital_disorder_of_glycosylation,_type_IIa,_212066_(3)_AR,Diamond-Blackfan_anemia_13,_615909_(3)_AD,Dystonia,_DOPA-responsive,_with_or_without_hyperphenylalaninemia,_128230_(3)_AR,AD,Hyperphenylalaninemia,_BH4-deficient,_B,_233910_(3)_AR,Glycogen_storage_disease_VI,_232700_(3)_AR,Intellectual_developmental_disorder_with_speech_delay_and_axonal_peripheral_neuropathy,_619099_(3)_AR,Joubert_syndrome_23,_616490_(3)_AR,Short-rib_thoracic_dysplasia_14_with_polydactyly,_616546_(3)_AR,L-2-hydroxyglutaric_aciduria,_236792_(3)_AR,L-2-hydroxyglutaric_aciduria,Microphthalmia,_syndromic_5,_610125_(3)_AD,Pituitary_hormone_deficiency,_combined,_6,_613986_(3)_AD,Retinal_dystrophy,_early-onset,_with_or_without_pituitary_dysfunction,_610125_(3)_AD,Microphthalmia,_syndromic_6,_607932_(3)_AD,Orofacial_cleft_11,_600625_(3),Neuropathy,_hereditary_sensory,_type_ID,_613708_(3)_AD,Spastic_paraplegia_3A,_AD,_182600_(3)_AD,Noonan_syndrome_9,_616559_(3)_AD,Spastic_paraplegia_28,_AR,_609340_(3)_AR,Structural_heart_defects_and_renal_anomalies_syndrome,_617478_(3)_AR|.|.|.|.|.|.|.|Neuropathy,_hereditary_sensory,_type_ID,_613708_(3)_AD,Spastic_paraplegia_3A,_AD,_182600_(3)_AD|Microphthalmia,_syndromic_6,_607932_(3)_AD,Orofacial_cleft_11,_600625_(3)|.|.|.|.|.|.|.|.|Spastic_paraplegia_28,_AR,_609340_(3)_AR|.|.|Ciliary_dyskinesia,_primary,_10,_612518_(3)_AR|.|.|.|.|.|.|.|Dystonia,_DOPA-responsive,_with_or_without_hyperphenylalaninemia,_128230_(3)_AR,AD,Hyperphenylalaninemia,_BH4-deficient,_B,_233910_(3)_AR|.|.|.|.|.|.|Joubert_syndrome_23,_616490_(3)_AR,Short-rib_thoracic_dysplasia_14_with_polydactyly,_616546_(3)_AR|.|.|.|.|L-2-hydroxyglutaric_aciduria,_236792_(3)_AR,L-2-hydroxyglutaric_aciduria|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|Congenital_disorder_of_glycosylation,_type_IIa,_212066_(3)_AR|.|.|.|.|.|.|.|.|Microphthalmia,_syndromic_5,_610125_(3)_AD,Pituitary_hormone_deficiency,_combined,_6,_613986_(3)_AD,Retinal_dystrophy,_early-onset,_with_or_without_pituitary_dysfunction,_610125_(3)_AD|.|.|.|.|.|.|.|.|Glycogen_storage_disease_VI,_232700_(3)_AR|.|.|.|.|.|Diamond-Blackfan_anemia_13,_615909_(3)_AD|.|.|.|.|.|Noonan_syndrome_9,_616559_(3)_AD|.|.|.|Structural_heart_defects_and_renal_anomalies_syndrome,_617478_(3)_AR|.|.|.|.|.|.;P_loss_hpo=HP:0040144|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|HP:0040144|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_loss_source=CLN:961873,HI3:GCH1,HI3:OTX2,dbVar:nssv15119827,dbVar:nssv15120098,dbVar:nssv15120311,dbVar:nssv15121702,dbVar:nssv15128380,dbVar:nssv15128599,dbVar:nssv15129157,dbVar:nssv15130232,dbVar:nssv15140525,dbVar:nssv15144361,dbVar:nssv15151139,dbVar:nssv15154703,dbVar:nssv15161258,dbVar:nssv15770306,dbVar:nssv15770493,dbVar:nssv15770946,dbVar:nssv15774967,dbVar:nssv15776710,dbVar:nssv16208390,dbVar:nssv16208391,dbVar:nssv16208392,dbVar:nssv16212216,dbVar:nssv16212338,dbVar:nssv16212456,dbVar:nssv16213673,dbVar:nssv16213702,dbVar:nssv16213818,dbVar:nssv16297058,dbVar:nssv17171365,dbVar:nssv17172640,dbVar:nssv17172653,dbVar:nssv17172654,dbVar:nssv17955973,dbVar:nssv17957196,dbVar:nssv17968726,dbVar:nssv17968727,dbVar:nssv17969640,dbVar:nssv17970792,dbVar:nssv17970971,dbVar:nssv17972065,dbVar:nssv17972699,morbid:ATL1,morbid:BMP4,morbid:DDHD1,morbid:DNAAF2,morbid:GCH1,morbid:KIAA0586,morbid:L2HGDH,morbid:MGAT2,morbid:NEMF,morbid:OTX2,morbid:PYGL,morbid:RPS29,morbid:SOS2,morbid:TMEM260|.|.|.|.|.|.|.|dbVar:nssv16212338,dbVar:nssv16213673,morbid:ATL1|morbid:BMP4|.|.|.|.|.|.|.|.|morbid:DDHD1|.|dbVar:nssv17172640|morbid:DNAAF2|.|.|.|.|.|.|.|HI3:GCH1,dbVar:nssv15129157,dbVar:nssv15130232,dbVar:nssv15770493,dbVar:nssv15774967,dbVar:nssv16212216,dbVar:nssv16212456,dbVar:nssv17172653,dbVar:nssv17172654,dbVar:nssv17968726,dbVar:nssv17968727,dbVar:nssv17972065|.|.|.|.|.|.|dbVar:nssv15144361,morbid:KIAA0586|.|.|.|.|CLN:961873,dbVar:nssv16213818,dbVar:nssv17172640,morbid:L2HGDH|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|morbid:MGAT2|.|.|.|.|.|.|.|.|HI3:OTX2,dbVar:nssv15770306,dbVar:nssv15770946,dbVar:nssv17972699,morbid:OTX2|.|.|.|.|.|.|.|.|dbVar:nssv15161258,dbVar:nssv16213702,dbVar:nssv17171365,morbid:PYGL|.|.|.|.|.|morbid:RPS29|.|.|.|.|.|morbid:SOS2|.|.|.|dbVar:nssv17955973,morbid:TMEM260|.|.|.|.|.|.;P_loss_coord=14:50050294-50053098,14:50087516-50090199,14:50091891-50101962,14:50250238-50319921,14:50466718-50713972,14:50583849-50698296,14:50709151-50778947,14:50731868-50732221,14:50734451-50736068,14:50778709-50778888,14:51026862-51099760,14:51026974-51099067,14:51057649-51099067,14:51057729-56753637,14:51152773-51216251,14:51371934-51411201,14:51372090-51411141,14:51376593-51379041,14:51378444-51378447,14:52011564-55787316,14:53241194-55803026,14:53503472-53620041,14:53820659-55003253,14:54250363-55362006,14:54416454-54423609,14:54416750-55369403,14:55308723-55369542,14:55308734-55369544,14:55310735-55313868,14:55312466-55313868,14:55313807-55313858,14:55326389-55332164,14:55329585-55355031,14:55332025-55332174,14:55332035-55332164,14:55332039-55369387,14:55343414-55414889,14:55369019-55369381,14:55369019-55369401,14:55369029-55369420,14:55615073-58043694,14:56559797-58063452,14:56605398-59404256,14:57046515-57116232,14:57048950-57053841,14:57126229-57336190,14:57130786-57577796,14:57266622-57277197,14:57267425-57277194,14:57268433-57269093,14:57268433-57271101,14:57268453-57272174,14:58711639-59014694,14:58737402-58884615,14:58737402-58891576,14:58906398-59003931,14:58910652-58917484,14:59147175-59860886|.|.|.|.|.|.|.|14:51026862-51099760,14:51026974-51099067,14:51057649-51099067|14:54416454-54423609|.|.|.|.|.|.|.|.|14:53503472-53620041|.|14:50778709-50778888|14:50091891-50101962|.|.|.|.|.|.|.|14:55308723-55369542,14:55310735-55313868,14:55312466-55313868,14:55313807-55313858,14:55326389-55332164,14:55329585-55355031,14:55332025-55332174,14:55332035-55332164,14:55332039-55369387,14:55369019-55369381,14:55369019-55369401,14:55369029-55369420|.|.|.|.|.|.|14:58906398-59003931,14:58910652-58917484|.|.|.|.|14:50709151-50778947,14:50731868-50732221,14:50734451-50736068,14:50778709-50778888|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|14:50087516-50090199|.|.|.|.|.|.|.|.|14:57266622-57277197,14:57267425-57277194,14:57268433-57269093,14:57268433-57271101,14:57268453-57272174|.|.|.|.|.|.|.|.|14:51371934-51411201,14:51372090-51411141,14:51376593-51379041,14:51378444-51378447|.|.|.|.|.|14:50050294-50053098|.|.|.|.|.|14:50583849-50698296|.|.|.|14:57046515-57116232,14:57048950-57053841|.|.|.|.|.|.;P_ins_phen=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_ins_hpo=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_ins_source=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_ins_coord=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_phen=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_hpo=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_source=dbVar:nssv15137747,dbVar:nssv15161067,dbVar:nssv15161107,nssv15161424,dbVar:nssv15161629,dbVar:nssv15161908,dbVar:nssv15162475,dbVar:nssv15162476,dbVar:nssv17517489|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_coord=14:19000422-107289053,14:19280733-107287663,14:19327823-107287663,14:19794561-107234280,14:20511673-107285437,14:20619308-107263478,14:39665376-57181179,14:54654001-75828024|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_percent=11.33,11.36,11.37,11.44,11.52,11.54,25.25,41.00|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_phen=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_hpo=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_source=dbVar:nssv15126984,dbVar:nssv15146256,dbVar:nssv15146257,dbVar:nssv15147456,dbVar:nssv17976070|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_coord=14:21162263-50713602,14:57507754-67674948,14:58120131-64560246,14:58612740-61740337,14:59073273-61983038|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_percent=2.41,24.51,29.19,31.85,44.36|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_snvindel_nb=223.0|.|.|.|.|.|.|.|31.0|2.0|.|.|.|.|.|.|.|.|8.0|.|1.0|13.0|.|.|.|.|.|.|.|45.0|.|.|.|.|.|.|52.0|.|.|.|.|15.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|4.0|.|1.0|17.0|.|.|.|.|.|.|.|.|22.0|.|.|.|.|.|.|.|.|.|.|.|6.0|.|.|.|7.0|.|.|.|.|.|.;P_snvindel_phen=Anophthalmia-microphthalmia_syndrome,Autosomal_recessive_DOPA_responsive_dystonia,Charcot-Marie-Tooth_disease,Congenital_cerebellar_hypoplasia,Distal_lower_limb_muscle_weakness,Distal_sensory_impairment,Dystonia_5,GTP_cyclohydrolase_I_deficiency,Glycogen_storage_disease,_type_VI,Hereditary_spastic_paraplegia,Hereditary_spastic_paraplegia_28,Hereditary_spastic_paraplegia_3A,Inborn_genetic_diseases,Intellectual_developmental_disorder_with_speech_delay_and_axonal_peripheral_neuropathy,Intellectual_disability,Joubert_syndrome,Joubert_syndrome_23,Joubert_syndrome_and_related_disorders,L-2-hydroxyglutaric_aciduria,Leber_congenital_amaurosis,Microphthalmia_with_brain_and_digit_anomalies,Neurodevelopmental_disorder,Neuropathy,_hereditary_sensory,_type_1D,Noonan_syndrome,Noonan_syndrome_9,Orofacial_cleft_11,Osteomyelitis_leading_to_amputation_due_to_slow_healing_fractures,Penetrating_foot_ulcers,Primary_ciliary_dyskinesia,Primary_ciliary_dyskinesia_10,RASopathy,Retinal_dystrophy,Rod-cone_dystrophy,Seckel_syndrome_7,Short-rib_thoracic_dysplasia_14_with_polydactyly,Spastic_paraplegia,Structural_heart_defects_and_renal_anomalies_syndrome,Syndromic_microphthalmia_type_5,Type_I_truncus_arteriosus|.|.|.|.|.|.|.|Charcot-Marie-Tooth_disease,Distal_lower_limb_muscle_weakness,Distal_sensory_impairment,Hereditary_spastic_paraplegia,Hereditary_spastic_paraplegia_3A,Inborn_genetic_diseases,Neuropathy,_hereditary_sensory,_type_1D,Osteomyelitis_leading_to_amputation_due_to_slow_healing_fractures,Penetrating_foot_ulcers,Spastic_paraplegia|Inborn_genetic_diseases,Microphthalmia_with_brain_and_digit_anomalies,Orofacial_cleft_11|.|.|.|.|.|.|.|.|Hereditary_spastic_paraplegia,Hereditary_spastic_paraplegia_28|.|L-2-hydroxyglutaric_aciduria|Primary_ciliary_dyskinesia,Primary_ciliary_dyskinesia_10|.|.|.|.|.|.|.|Autosomal_recessive_DOPA_responsive_dystonia,Dystonia_5,GTP_cyclohydrolase_I_deficiency,Inborn_genetic_diseases|.|.|.|.|.|.|Congenital_cerebellar_hypoplasia,Intellectual_disability,Joubert_syndrome,Joubert_syndrome_23,Joubert_syndrome_and_related_disorders,Neurodevelopmental_disorder,Retinal_dystrophy,Rod-cone_dystrophy,Short-rib_thoracic_dysplasia_14_with_polydactyly|.|.|.|.|L-2-hydroxyglutaric_aciduria|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|Intellectual_developmental_disorder_with_speech_delay_and_axonal_peripheral_neuropathy|.|Seckel_syndrome_7|Anophthalmia-microphthalmia_syndrome,Inborn_genetic_diseases,Leber_congenital_amaurosis,Syndromic_microphthalmia_type_5|.|.|.|.|.|.|.|.|Glycogen_storage_disease,_type_VI|.|.|.|.|.|.|.|.|.|.|.|Noonan_syndrome,Noonan_syndrome_9,RASopathy|.|.|.|Structural_heart_defects_and_renal_anomalies_syndrome,Type_I_truncus_arteriosus|.|.|.|.|.|.;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=1000g,1000g,CMRI:0_pbsv.INS.DUP.400,gnomAD-SV_v2.1_DUP_14_38433,1000g,gnomAD-SV_v2.1_DUP_14_38437,1000g,1000g,1000g,1000g,1000g,1000g,1000g,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38463,CMRI:57_pbsv.INS.DUP.471,1000g,gnomAD-SV_v2.1_DUP_14_38465,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38468,1000g,CMRI:9_pbsv.INS.DUP.472_duplicate1,CMRI:0_pbsv.INS.DUP.427,1000g,1000g,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38491,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38496,1000g,gnomAD-SV_v2.1_DUP_14_38503,1000g,1000g,1000g,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38517,CMRI:2_pbsv.INS.DUP.615,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38528,gnomAD-SV_v2.1_DUP_14_38531,1000g,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38536,CMRI:3_pbsv.INS.DUP.782,gnomAD-SV_v2.1_DUP_14_38538,gnomAD-SV_v2.1_DUP_14_38547,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38551,CMRI:5_pbsv.INS.DUP.557_duplicate1,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38555,CMRI:27_pbsv.INS.DUP.516_duplicate1,gnomAD-SV_v2.1_DUP_14_38557,1000g|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_gain_someG_coord=14:50000951-50000952,14:50118870-50119027,14:50192076-50192362,14:50224287-50224391,14:50255846-50255847,14:50322528-50322599,14:51184954-51184955,14:51432094-51432095,14:51719000-51719001,14:51810747-51810748,14:52135887-52135888,14:52136577-52136578,14:52404332-52404457,14:52488926-52488927,14:52561836-52561837,14:52589990-52590144,14:52585047-52585123,14:52594665-52594980,14:52608487-52608563,14:52643767-52643768,14:52667767-52667768,14:52690525-52690591,14:52756782-52757113,14:52992254-52992420,14:53304082-53304136,14:53778127-53778128,14:53800170-53800171,14:54317689-54317690,14:54564051-54564385,14:54812678-54812753,14:54815743-54815744,14:54923985-54923986,14:55145195-55145325,14:55637056-55637057,14:55760330-55763812,14:55795871-55795872,14:56377908-56377909,14:56430912-56430913,14:56437925-56437926,14:56606684-56606685,14:56666859-56667030,14:56666861-56667029,14:57256784-57256785,14:57508006-57508007,14:57625816-57625887,14:57729410-57729478,14:57744450-57744451,14:58022792-58022793,14:58108037-58108038,14:58450864-58450940,14:58450866-58450939,14:58499999-58505000,14:59001932-59002011,14:59160899-59160900,14:59220402-59220403,14:59294822-59294882,14:59294824-59294879,14:59522426-59522427,14:59710037-59710038,14:59831413-59831485,14:59831656-59831716,14:59846444-59846514,14:59894370-59894371|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_loss_allG_source=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_loss_allG_coord=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_loss_someG_source=gnomAD-SV_v2.1_DEL_14_142370,gnomAD-SV_v2.1_DEL_14_142371,CMRI:3_pbsv.DEL.635_duplicate4,CMRI:2_pbsv.DEL.523_duplicate6,1000g,gnomAD-SV_v2.1_DEL_14_142375,DDD:42831,CMRI:0_pbsv.DEL.398_duplicate1,CMRI:0_pbsv.DEL.402_duplicate2,gnomAD-SV_v2.1_DEL_14_142386,gnomAD-SV_v2.1_DEL_14_142388,esv2670369,gnomAD-SV_v2.1_DEL_14_142394,CMRI:0_pbsv.DEL.406_duplicate3,DDD:42843,DDD:42851,DDD:42853,1000g,gnomAD-SV_v2.1_DEL_14_142429,CMRI:31_pbsv.DEL.485_duplicate6,CMRI:0_pbsv.DEL.409_duplicate3,1000g,esv3634494,gnomAD-SV_v2.1_DEL_14_142442,CMRI:2_pbsv.DEL.542_duplicate4,gnomAD-SV_v2.1_DEL_14_142444,gnomAD-SV_v2.1_DEL_14_142447,CMRI:50_pbsv.DEL.386_duplicate1,gnomAD-SV_v2.1_DEL_14_142448,CMRI:4_pbsv.DEL.666_duplicate6,gnomAD-SV_v2.1_DEL_14_142449,CMRI:5_pbsv.DEL.475_duplicate4,CMRI:33_pbsv.DEL.435_duplicate6,gnomAD-SV_v2.1_DEL_14_142468,CMRI:4_pbsv.DEL.682_duplicate9,dgv639e212,1000g,esv3634509,gnomAD-SV_v2.1_DEL_14_142474,DDD:42866,esv2670027,CMRI:12_pbsv.DEL.517_duplicate5,gnomAD-SV_v2.1_DEL_14_142477,1000g,esv2675664,gnomAD-SV_v2.1_DEL_14_142479,CMRI:11_pbsv.DEL.690_duplicate4,esv3581206,gnomAD-SV_v2.1_DEL_14_142490,1000g,esv2658289,CMRI:0_pbsv.DEL.422_duplicate1,gnomAD-SV_v2.1_DEL_14_142493,gnomAD-SV_v2.1_DEL_14_142504,1000g,esv2661497,CMRI:11_pbsv.DEL.697_duplicate3,gnomAD-SV_v2.1_DEL_14_142509,gnomAD-SV_v2.1_DEL_14_142516,DDD:42872,CMRI:44_pbsv.DEL.478_duplicate5,CMRI:69_pbsv.DEL.603_duplicate6,1000g,gnomAD-SV_v2.1_DEL_14_142521,gnomAD-SV_v2.1_DEL_14_142528,DDD:42879,esv2677927,gnomAD-SV_v2.1_DEL_14_142532,1000g,esv3634528,CMRI:186_pbsv.DEL.546_duplicate1,1000g,DDD:42882,gnomAD-SV_v2.1_DEL_14_142567,gnomAD-SV_v2.1_DEL_14_142591,gnomAD-SV_v2.1_DEL_14_142595,gnomAD-SV_v2.1_DEL_14_142598,CMRI:28_pbsv.DEL.666_duplicate7,gnomAD-SV_v2.1_DEL_14_142610,1000g,gnomAD-SV_v2.1_DEL_14_142616,CMRI:0_pbsv.DEL.438_duplicate1,CMRI:6_pbsv.DEL.694_duplicate6,CMRI:39_pbsv.DEL.569_duplicate4,CMRI:39_pbsv.DEL.570_duplicate8,dgv397e199,DDD:42892,gnomAD-SV_v2.1_DEL_14_142622,1000g,esv3634554,CMRI:6_pbsv.DEL.699_duplicate6,CMRI:1_pbsv.DEL.441_duplicate9,CMRI:1_pbsv.DEL.448_duplicate9,CMRI:3_pbsv.DEL.724_duplicate4,gnomAD-SV_v2.1_DEL_14_142655,DDD:42904,gnomAD-SV_v2.1_DEL_14_142657,1000g,esv3634576,DDD:42907,esv2657596,gnomAD-SV_v2.1_DEL_14_142682,CMRI:13_pbsv.DEL.633_duplicate8,gnomAD-SV_v2.1_DEL_14_142687,CMRI:53_pbsv.DEL.607_duplicate7,DDD:42908,CMRI:6_pbsv.DEL.729_duplicate5,DDD:42911,DDD:42913,CMRI:4_pbsv.DEL.752_duplicate9,gnomAD-SV_v2.1_DEL_14_142710,1000g,gnomAD-SV_v2.1_DEL_14_142711,gnomAD-SV_v2.1_DEL_14_142729,CMRI:4_pbsv.DEL.761_duplicate5,CMRI:11_pbsv.DEL.792_duplicate6,esv2676142,DDD:42922,1000g,gnomAD-SV_v2.1_DEL_14_142740,CMRI:5_pbsv.DEL.539_duplicate7,CMRI:0_pbsv.DEL.463_duplicate3,gnomAD-SV_v2.1_DEL_14_142744,CMRI:1_pbsv.DEL.468_duplicate8,gnomAD-SV_v2.1_DEL_14_142748,gnomAD-SV_v2.1_DEL_14_142750,1000g,gnomAD-SV_v2.1_DEL_14_142768,DDD:42928,1000g,esv3634604,DDD:42929,gnomAD-SV_v2.1_DEL_14_142771,1000g,DDD:42935,CMRI:31_pbsv.DEL.581_duplicate10,1000g,esv3634613,DDD:42942,gnomAD-SV_v2.1_DEL_14_142808,gnomAD-SV_v2.1_DEL_14_142810,1000g,1000g,CMRI:119_pbsv.DEL.583_duplicate6,1000g,gnomAD-SV_v2.1_DEL_14_142816,gnomAD-SV_v2.1_DEL_14_142823,1000g,CMRI:3_pbsv.DEL.789_duplicate7,gnomAD-SV_v2.1_DEL_14_142852,CMRI:1_pbsv.DEL.485_duplicate6,CMRI:5_pbsv.DEL.559_duplicate6,CMRI:73_pbsv.DEL.608_duplicate2,CMRI:1_pbsv.DEL.487_duplicate9,CMRI:6_pbsv.DEL.767_duplicate8,CMRI:0_pbsv.DEL.481_duplicate3,esv2666152,gnomAD-SV_v2.1_DEL_14_142869,CMRI:0_pbsv.DEL.484_duplicate1,esv2669266,gnomAD-SV_v2.1_DEL_14_142870,CMRI:0_pbsv.DEL.485_duplicate5,CMRI:7_pbsv.DEL.558_duplicate2,gnomAD-SV_v2.1_DEL_14_142893,gnomAD-SV_v2.1_DEL_14_142894,CMRI:0_pbsv.DEL.488_duplicate3,CMRI:2_pbsv.DEL.650_duplicate6,DDD:42836,dgv637e212,esv2670707,DDD:42900,DDD:42903,DDD:42905,DDD:42906,DDD:42918,gnomAD-SV_v2.1_DEL_14_142728,CMRI:80_pbsv.DEL.582_duplicate5,CMRI:90_pbsv.DEL.578_duplicate4,DDD:42933,gnomAD-SV_v2.1_DEL_14_142788,gnomAD-SV_v2.1_DEL_14_142801,gnomAD-SV_v2.1_DEL_14_142871,CMRI:31_pbsv.DEL.598_duplicate6,gnomAD-SV_v2.1_DEL_14_142890,gnomAD-SV_v2.1_DEL_14_142892,1000g,esv3634648,CMRI:3_pbsv.DEL.801_duplicate5|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_loss_someG_coord=14:50000950-50001091,14:50003261-50003354,14:50000947-50001076,14:50003262-50003352,14:50118870-50119027,14:50118886-50119027,14:50120746-50121065,14:50118870-50119027,14:50287692-50288220,14:50339999-50345000,14:50369734-50370341,14:50540119-50541658,14:50540134-50541658,14:50540119-50541658,14:50825138-50827390,14:51031165-51034909,14:51090731-51091751,14:51090731-51091771,14:51090749-51091751,14:51090731-51091751,14:51363292-51363349,14:51408908-51409542,14:51408908-51409542,14:51409034-51409545,14:51408899-51409530,14:51519967-51520531,14:51590331-51590396,14:51590331-51590396,14:51601413-51601713,14:51601405-51601707,14:51610963-51611014,14:51610947-51611011,14:51705427-51705481,14:52161477-52161902,14:52161628-52161902,14:52268751-52275328,14:52378334-52378897,14:52378334-52378897,14:52378342-52378902,14:52378343-52378902,14:52378343-52378902,14:52378343-52378902,14:52398257-52398969,14:52404332-52404457,14:52404332-52404457,14:52404344-52404792,14:52404332-52404457,14:52433297-52435495,14:52594563-52594980,14:52594665-52594980,14:52594665-52594980,14:52594665-52594980,14:52642916-52643753,14:52756678-52757113,14:52756782-52757113,14:52756782-52757113,14:52756782-52757113,14:52833328-52833507,14:52973246-52973591,14:52975738-52976325,14:52973234-52973573,14:52996244-52996294,14:53026218-53031643,14:53026227-53031652,14:53172775-53173318,14:53252466-53255079,14:53252466-53255079,14:53252466-53255079,14:53252466-53255095,14:53252466-53255095,14:53317367-53317789,14:53709250-53710874,14:53709317-53710944,14:53709333-53710990,14:54143560-54143644,14:54230296-54230875,14:54242560-54242711,14:54361832-54361910,14:54434707-54435261,14:54564051-54564385,14:54564065-54564385,14:54564051-54564385,14:54669779-54669895,14:54670550-54670727,14:54670673-54670849,14:54710195-54713685,14:54710346-54713685,14:54710348-54713685,14:54710363-54713688,14:54710363-54713688,14:54710346-54713685,14:54790414-54790486,14:55347348-55347456,14:55347396-55347477,14:55363552-55363648,14:55364169-55366756,14:55382239-55382299,14:55751164-55752029,14:55751164-55752029,14:55751184-55752042,14:55751184-55752042,14:55751222-55752020,14:55751184-55752042,14:55785064-55785115,14:55798393-55798463,14:55811665-55812371,14:55956507-55956572,14:56046734-56047098,14:56047022-56047099,14:56113184-56113243,14:56195041-56195639,14:56202421-56205828,14:56202425-56205827,14:56459753-56461550,14:56459779-56461550,14:56522910-56522991,14:56584345-56586892,14:56584501-56586700,14:56822565-56823914,14:56911219-56911312,14:56909062-56912100,14:56911220-56911304,14:57031199-57031530,14:57031213-57031566,14:57119623-57120460,14:57134999-57140000,14:57509655-57510305,14:57509661-57510307,14:57509662-57510307,14:57566757-57572972,14:57566757-57572972,14:57566760-57572966,14:57566761-57572966,14:57847202-57847319,14:58006227-58008292,14:58187679-58187732,14:58273937-58275407,14:58273937-58275407,14:58273962-58275423,14:58273965-58275423,14:58322607-58325578,14:58322611-58325603,14:58360489-58363705,14:58360502-58363662,14:58425190-58425270,14:58425191-58425270,14:58530781-58531097,14:59040835-59042138,14:59040804-59042031,14:59078917-59079792,14:59423295-59423362,14:59429053-59429167,14:59429053-59429195,14:59429063-59429113,14:59429071-59429317,14:59429513-59429647,14:59524783-59524951,14:59525556-59525657,14:59524773-59524937,14:59545298-59545605,14:59545312-59545605,14:59545298-59545605,14:59634725-59634787,14:59883944-59884011,14:59884013-59884260,14:59883921-59883977,14:59883921-59884010,14:50167716-50168803,14:51403537-51414265,14:55031945-55036092,14:55032101-55035900,14:55328388-55330090,14:55393195-55395755,14:55622692-55626005,14:56295331-56297205,14:56456999-56462500,14:56456825-56462688,14:57196402-57197010,14:57868237-57868642,14:57884106-57884675,14:58133667-58148635,14:59555516-59555964,14:59555754-59555964,14:59864280-59868447,14:59883477-59884047,14:59883503-59884059,14:59883503-59884059,14:59883477-59884047|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;TAD_coordinate=14:50000001-106000000,14:50000001-106040000,14:50000001-106760000,14:50000001-50600000,14:50000001-50640000,14:50000001-50720000,14:50000001-51000000,14:50000001-51440000,14:50000001-51480000,14:50000001-51640000,14:50000001-51680000,14:50000001-52680000,14:50000001-53840000,14:50000001-53880000,14:50000001-54880000,14:50000001-54920000,14:50000001-58680000,14:50000001-58720000,14:50000001-58760000,14:50000001-58880000,14:50000001-63800000|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ENCODE_experiment=ENCFF032FMN:ENCFF066NYU:ENCFF075QYD:ENCFF136AUY:ENCFF248DGB:ENCFF274VJU:ENCFF306YQN:ENCFF310FEU:ENCFF336WPU:ENCFF373MCF:ENCFF437EBV:ENCFF444XGA:ENCFF451MCF:ENCFF471EYL:ENCFF477VVJ:ENCFF531PAV:ENCFF558RGV:ENCFF569KNS:ENCFF588KUZ:ENCFF633ORE:ENCFF654GDV|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Cosmic_ID=1000828,1000829,1003073,1003074,1003075,1003076,1003077,1003078,1003079,1003080,1003081,1003082,1003083,1003084,100605,100606,100607,100609,100610,100611,100612,1006704,1006706,1008603,1009405,1010830,1011198,1013347,1014459,1014460,1015358,1017904,1017905,1018192,1018193,1018194,1018408,1018409,1018410,1018412,1018413,1018414,1018415,1018416,1018417,1018665,1018666,1018667,1018668,1018669,1024683,...|739972,739973|131963,144381,150205,160196,180468,180469,183931,192355,197825,219512,225061,238188,413457,761833|.|.|.|1183894,1326031,136104,1500058,1517318,1559677,1684688,1709570,1785155,1876731,1888652,1898691,2089491,2103449,2147747,2160314,2175977,2249949,2410294,2484556,2567420,2606198,2753795,2758834,2760075,2901168,2924040,3006346,420186,437770,544810,590899,706343,706344,761832,876049,935691,949113|2748117,459215|1058159|58937|.|13586,208117,739994|140780,310551,427319,989775|.|.|.|1064488|.|456454,47563,494174,531367,570021|525013|470078|761773|1118792,1628002,1782341,289956,556844,565335,706315,955357,956082|.|706322|3054628,706318,761792,761793,761794,761795,761796,761797,761798,761799,761800,777845,777851,777879,778026|270619,718076|.|1555448,718072,718073,718074,761783,761784,850655|.|.|1102889,1212855,1212987,1395773,1415271,2011838,2094141,2116904,2210520,2248193,310556,446310,494170,706312,739977,831183|706316|.|.|718084|.|.|.|1037508,1037509,1037510,1037511,1037512,108740,126584,270635,53773,609722,706324,748889,782350,824428|.|501447,718068|1069332|.|.|.|.|.|.|739965|1017904|.|.|.|.|.|.|1058157,114239,114240,148278,270608,351029,761779,791463,821641,989614|706320|.|.|.|.|.|.|.|464169,63144|1047630,169780,373281,739969,787359,868090,969811,991701|.|.|1037517,1808247,270638,2901636,418304,448126,473362,531376,531377,531378,674982,680150,689572,706330|145167,223667,411719|761835,761836|.|.|.|.|739974,739975,969350|.|.|.|.|.|.|.|157874,190479,22503,3031195,356837,470081,479077,494177,494178,562225,696072,950275|1047626|1047654,1047655,226862,396488,397981,397982,421499,516344,576257,599417,696083,706342,739996,739997,739998,739999,740000,740001,740002,740003,746830,746989,761820,761821,761822,761823,761824,761825,761826,761827,761828,839956,840879,850674,876047,926437,937417,954999,979779|435367|1047623,261484,270606,761776,761777,761778|.|.|706345|18355,297960,306030,531380,590894|.|.|1662524,270613,270614,428897,428898,428899,430112,706309,9710|506919,761787,761788,761789,761790,761791,810530,821643|.|590890,739988;Cosmic_mut_typ=gain,loss|gain,loss|gain,loss|.|.|.|gain,loss|gain,loss|loss|gain|.|loss|loss|.|.|.|loss|.|gain,loss|loss|gain|loss|gain,loss|.|loss|gain,loss|gain|.|gain,loss|.|.|gain,loss|loss|.|.|gain|.|.|.|gain,loss|.|gain,loss|gain|.|.|.|.|.|.|gain|gain|.|.|.|.|.|.|gain,loss|loss|.|.|.|.|.|.|.|gain,loss|gain,loss|.|.|gain,loss|gain,loss|loss|.|.|.|.|gain,loss|.|.|.|.|.|.|.|gain,loss|gain|gain,loss|gain|gain,loss|.|.|loss|gain,loss|.|.|gain,loss|gain,loss|.|gain,loss;GC_content_left=0.380|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;GC_content_right=0.410|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Repeat_coord_left=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Repeat_type_left=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Repeat_coord_right=14:59999723-59999992,14:60000003-60000173|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Repeat_type_right=LTR87,LTR87|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Gap_left=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Gap_right=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;SegDup_left=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;SegDup_right=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ENCODE_blacklist_left=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ENCODE_blacklist_characteristics_left=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ENCODE_blacklist_right=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ENCODE_blacklist_characteristics_right=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ACMG=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;HI=3.0|.|.|.|.|.|.|.|.|2.0|.|.|.|.|.|.|.|.|30.0|.|.|.|.|.|.|.|.|.|.|3.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|3.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;TS=.|.|.|.|.|.|.|.|.|0.0|.|.|.|.|.|.|.|.|0.0|.|.|.|.|.|.|.|.|.|.|0.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|0.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;DDD_HI_percent=.|68.22|14.58|22.08|16.14|25.26|.|42.19|14.74|0.22|95.05|.|48.69|8.74|48.1|6.0|11.09|60.74|40.86|60.57|.|67.73|.|5.97|67.94|12.9|15.67|.|.|28.56|8.86|13.17|17.46|69.56|29.45|43.86|55.69|18.97|16.05|31.59|.|54.08|48.18|59.57|.|.|.|.|.|95.22|98.68|.|.|.|.|.|27.31|21.54|26.51|26.48|.|.|.|.|12.07|21.98|56.59|9.17|0.72|.|41.39|12.06|5.91|.|2.2|59.25|35.09|6.92|.|.|.|.|43.02|22.47|.|9.41|13.48|20.75|30.25|16.91|11.51|78.11|14.61|26.11|24.25|65.43|17.57|67.75|33.76|22.07;ExAC_delZ=1.49134311362883|-1.54856236365969|0.409755289653893|0.0574301679604728|0.0947113797082893|0.707589205561659|.|0.551818027593061|0.289127083885536|0.524237776429203|.|.|-1.20021007122055|0.123183898914881|0.565795517229451|0.494550984920404|0.697066774430222|0.628145933291237|0.796251761060326|0.0244449902727107|.|-0.106110261792203|.|0.322581262660545|0.175325398992598|1.14090304497454|0.791717559823987|.|.|0.50957800130836|0.526211631620056|.|0.739431153488689|.|0.431979263618926|0.683731782243254|1.09702677889687|-1.02900432343689|0.931020719359027|.|.|0.146641725561268|0.459846372367536|-0.386319461681585|.|.|.|.|.|.|.|.|.|.|.|.|.|1.10425246663747|0.211003258664864|.|.|.|.|.|0.751786244558044|1.49134311362883|1.06489869653984|0.482069767594062|0.268380453417853|.|-0.0525069207592275|1.09845853567427|0.330031895463446|.|1.01981182282105|0.265798935200003|0.163414317912277|-1.30363986920437|.|.|.|.|1.10459056564813|0.398393906506967|.|0.549832767983936|-0.0429395959833565|0.314525119845469|0.392612171974756|0.72768316849493|0.767222602014266|0.701161561582539|0.741153237740858|-0.222126804353199|0.210206516599648|0.460287258002643|0.799563536957574|1.11638227738112|-0.210722415709232|-0.0754977225416558;ExAC_dupZ=1.41040898078987|-0.718759304030418|-0.882717466808782|1.19541983178201|0.491548663863901|1.03069904426296|.|-0.357672317015693|-0.159185688474007|0.788791243901348|.|.|-0.511206144778158|0.934097691529371|0.150343318492156|0.806566767298933|1.41040898078987|0.852085173537386|0.0699066918545996|-2.53125239294469|.|-0.0780076613724513|.|0.739665229148626|-0.364821597780596|0.935357680301249|-0.195868545764418|.|.|0.480372821686871|0.841351244475038|.|-0.0201955024039116|.|0.402878728282133|-0.295273602184415|1.34660708621278|0.0320739153389358|0.173128058419701|.|.|-0.703703320115608|-0.445090331638832|0.528835800579307|.|.|.|.|.|.|.|.|.|.|.|.|.|0.114204086322751|0.614292596052487|.|.|.|.|.|0.989915111428244|0.151072829791993|0.630596313611343|0.185598630908424|0.656442382765837|.|0.815018259371259|0.309540281769677|-1.11578210020012|.|0.848579178025151|0.233830382938051|0.162237809784858|-0.849216727788856|.|.|.|.|0.86110239261663|0.405124670581879|.|1.28573117287422|0.436402190505789|0.668156098367835|0.162471625607648|-0.26161363787954|1.03215815246894|0.274519725480325|0.277817405723433|1.33634826440611|0.319047030748436|0.127631717384415|1.07061054616672|0.0450881142053095|-0.958506697488207|0.242811575742597;ExAC_cnvZ=1.55315888341375|-0.957756521935053|-0.490899255123313|0.863716344100932|0.530816826988132|1.08207296039241|.|-0.0342491320619876|0.0261447432662974|0.917919635354791|.|.|-0.775204662133362|0.787426186097454|0.414022933068861|0.947001864685503|1.34793855523718|1.01075640659087|0.408666980949118|-2.47162789907313|.|-0.0112571137856067|.|0.711005945177804|-0.160408258219055|1.24882052835124|0.17942379751668|.|.|0.661531792397911|0.980023488852898|.|0.330835182472497|.|0.574588034875443|0.0734739271955627|1.55315888341375|-0.396575667355322|0.540581887513877|.|.|-0.447114014774023|-0.13220737968192|0.228501940809365|.|.|.|.|.|.|.|.|.|.|.|.|.|0.497959696980719|0.680394542105059|.|.|.|.|.|1.17536122078025|0.671923255418577|0.943360186027642|0.351867042584064|0.729536456973228|.|0.61605697516496|0.700587628630932|-0.700945898104175|.|1.13935227671492|0.374170982931369|0.279508050747094|-0.94731824320807|.|.|.|.|1.16448453422011|0.56361804356382|.|1.1936373474178|0.352626915436617|0.751953146374414|0.368963914259907|0.105708793144157|1.21532548072548|0.555543592988866|0.581832752879503|0.766294185255133|0.364260970777102|0.34578093262945|1.24491788141417|0.488604346095255|-0.783258371887321|0.174122536099903;ExAC_synZ=3.70069515770064|-0.225612552075775|-0.334687809260053|-1.42040695157831|0.466358074032461|-0.759603151930357|.|0.421182439061448|-0.572978595972358|0.187587933566873|.|.|0.508858643935569|-0.252264933382234|0.152063131183801|0.403584790690839|0.755184900095034|0.962067089476562|2.07554100862261|-0.38114017206841|.|2.55888037733804|.|-0.659939985258593|-1.6945324894983|0.591878392645807|-0.0359046958150172|.|.|0.39768072567718|-0.815850233777985|0.309201708751314|-0.0927910745388203|3.70069515770064|1.24973281728071|0.028346914718509|-1.75285201012082|-0.209229804873958|0.806286754923293|0.0052825542521659|.|0.224042686437295|1.74077386219118|-0.126624710455481|.|.|.|.|.|.|.|.|.|.|.|.|-1.35352095405636|0.101252471684453|-0.890863472055441|1.07358424487931|.|.|.|.|2.07436421712134|-1.97404879392239|0.647245963986442|0.653789181547074|0.227633065584633|.|-1.22509057161856|0.245473478139234|-0.477851782662045|.|0.330325836920114|2.33302038835896|1.04321880588982|-0.507347698945603|.|.|.|.|0.303633039119559|0.049805358610056|.|0.629929624193603|1.02640307833241|-1.17886682362244|0.491517864668319|-0.332920803398783|0.286001188739883|-0.081902768353108|0.191365850589707|-1.18013246159408|-0.605454012389364|0.37300042094476|1.41458168524741|-2.16407574205995|-0.158087890077722|0.291684847928136;ExAC_misZ=4.2507379187541|-0.511223667696865|0.843108112171691|-0.311063452412789|4.09144825027381|0.415933520082048|.|1.32343083946981|2.42236734634696|2.16430707467505|.|.|0.421528527686064|0.696205834843034|-0.564384768765337|1.12970324455447|1.35269247119506|0.967791366910407|2.52027228404247|-0.84274865725347|.|2.77699246050572|.|1.49045847202651|-0.456427363487482|1.8980067275072|-0.592894191977576|.|.|3.01486021851349|1.12881168306513|1.49974281466385|0.762502320790811|2.12744068027277|2.16444107192199|1.24643853979958|-2.71726457352232|-0.597064419123402|0.853772974998206|-1.78080350808307|.|0.115863845100636|-0.384320152401871|-0.740825870624318|.|.|.|.|.|.|.|.|.|.|.|.|-0.0860149976853457|0.819682432852057|-0.199467750192145|1.27099782920887|.|.|.|.|2.94994227424014|0.295388814346023|-0.228999142127435|-0.221994653145401|1.22457611918374|.|1.9252063722749|0.426410996034919|1.98365811035355|.|3.79088306221289|1.0988287765312|2.9873391671655|0.456916286508234|.|.|.|.|1.60016944829627|2.08416261484669|.|2.43741656749626|0.615370711925532|-0.917417604669037|0.190586982121789|2.32648652055095|0.829761448128307|-0.141414913671336|-0.450008217498481|-1.94553112600308|-0.42246563786595|1.24065693488838|4.2507379187541|-2.46669824073352|-2.086238519805|-1.3469858943089;GenCC_disease=.|.|.|.|.|.|.|.|hereditary_sensory_and_autonomic_neuropathy_type_1,hereditary_spastic_paraplegia_3A,neuropathy,_hereditary_sensory,_type_1D|Stickler_syndrome,microphthalmia_with_brain_and_digit_anomalies,renal_agenesis,_unilateral|.|.|.|.|.|.|.|Townes-Brocks_syndrome,Townes-Brocks_syndrome_2|hereditary_spastic_paraplegia_28,hereditary_spastic_paraplegia_56|.|.|primary_ciliary_dyskinesia,primary_ciliary_dyskinesia_10|.|.|.|.|.|.|.|GTP_cyclohydrolase_I_deficiency,GTP_cyclohydrolase_I_deficiency_with_hyperphenylalaninemia,dystonia_5|.|.|osteochondrodysplasia|.|.|.|Joubert_syndrome,Joubert_syndrome_17,Joubert_syndrome_23,Joubert_syndrome_with_Jeune_asphyxiating_thoracic_dystrophy,short-rib_thoracic_dysplasia_14_with_polydactyly|.|.|.|.|L-2-hydroxyglutaric_aciduria|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|MGAT2-CDG|.|.|.|.|.|intellectual_developmental_disorder_with_speech_delay_and_axonal_peripheral_neuropathy|.|Seckel_syndrome_7|combined_pituitary_hormone_deficiencies,_genetic_form,isolated_anophthalmia-microphthalmia_syndrome,patterned_macular_dystrophy,pituitary_hormone_deficiency,_combined,_6,septooptic_dysplasia,syndromic_microphthalmia_type_5|.|.|.|.|.|.|.|.|glycogen_storage_disease_VI|.|.|.|.|.|Diamond-Blackfan_anemia,Diamond-Blackfan_anemia_13|.|.|.|.|autoimmune_disease|Noonan_syndrome,Noonan_syndrome_9|.|.|.|structural_heart_defects_and_renal_anomalies_syndrome|.|.|.|.|.|.;GenCC_moi=.|.|.|.|.|.|.|.|AD,sD|AD,AR|.|.|.|.|.|.|.|AD|AR|.|.|AD,AR|.|.|.|.|.|.|.|AD,AR,sD|.|.|AR|.|.|.|AR|.|.|.|.|AR|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|AR|.|.|.|.|.|AR|.|AR|AD|.|.|.|.|.|.|.|.|AR|.|.|.|.|.|AD|.|.|.|.|AD|AD|.|.|.|AR|.|.|.|.|.|.;GenCC_classification=.|.|.|.|.|.|.|.|Definitive,Moderate,Supportive|Definitive,Moderate,Strong,Supportive|.|.|.|.|.|.|.|Limited,Supportive|Definitive,Moderate,Supportive|.|.|Moderate,Strong,Supportive|.|.|.|.|.|.|.|Definitive,Strong,Supportive|.|.|Limited|.|.|.|Definitive,Moderate,Strong,Supportive|.|.|.|.|Definitive,Strong,Supportive|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|Definitive,Moderate,Strong,Supportive|.|.|.|.|.|Strong|.|Limited|Definitive,Moderate,Strong,Supportive|.|.|.|.|.|.|.|.|Definitive,Strong,Supportive|.|.|.|.|.|Moderate,Supportive|.|.|.|.|Limited|Definitive,Strong,Supportive|.|.|.|Strong|.|.|.|.|.|.;GenCC_pmid=.|.|.|.|.|.|.|.|11685207[PMID],21194679[PMID]|18252212,19249007,21340693,21900877[PMID],25663169,30362103,31053785|.|.|.|.|.|.|.|19701191,22610794,28054444[PMID]|15786464,23176821,23176821[PMID]|.|.|19052621,20301301[PMID],31107948|.|.|.|.|.|.|.|10208576,10732814,10987649,11359069,11486899,12552057,17111153,7730309,7874165,9576537,9667588,NULL|.|.|32591345|.|.|.|26026149,26096313[PMID],26386044[PMID],26437029|.|.|.|.|15385440,16134148,19911013,20052767,20052767[PMID],22391998|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|11228641,20301507[PMID],20684000,22105986,31420886,33044030,8808595|.|.|.|.|.|27431290,32934225|.|.|15846561,15846561[PMID]_20396904[PMID],18628516,18728160[PMID],18854396,19956411,19965921,20396904,21396578[PMID]_24802313[PMID],24033328[PMID],24859618,25293953[PMID]|.|.|.|.|.|.|.|.|32892177,32961316,33505429,9529348,9536091,NULL|.|.|.|.|.|24829207,24829207[PMID]|.|.|.|.|.|25795793,25795793[PMID],26173643,32788663|.|.|.|28318500|.|.|.|.|.|.;OMIM_ID=606439,112262,607861,614603,612517,600225,616510,610178,609584,602616,608378,608684,600037,604687,176804,613741,603633,601247,617449|.|.|.|.|.|.|.|606439|112262|.|.|.|.|.|.|.|607861|614603|.|.|612517|.|.|.|.|.|.|.|600225|.|.|616510|.|.|.|610178|.|.|.|.|609584|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|602616|.|.|.|.|.|608378|.|608684|600037|.|.|.|.|.|.|604687|176804|613741|.|.|.|.|.|603633|.|.|.|.|.|601247|.|.|.|617449|.|.|.|.|.|.;OMIM_phenotype=.|.|.|.|.|.|.|.|Neuropathy,_hereditary_sensory,_type_ID,_613708_(3)_AD,Spastic_paraplegia_3A,_AD,_182600_(3)_AD|Microphthalmia,_syndromic_6,_607932_(3)_AD,Orofacial_cleft_11,_600625_(3)|.|.|.|.|.|.|.|?Townes-Brocks_syndrome_2,_617466_(3)_AD|Spastic_paraplegia_28,_AR,_609340_(3)_AR|.|.|Ciliary_dyskinesia,_primary,_10,_612518_(3)_AR|.|.|.|.|.|.|.|Dystonia,_DOPA-responsive,_with_or_without_hyperphenylalaninemia,_128230_(3)_AR,AD,Hyperphenylalaninemia,_BH4-deficient,_B,_233910_(3)_AR|.|.|?Rhizomelic_dysplasia,_Ain-Naz_type,_616510_(3)|.|.|.|Joubert_syndrome_23,_616490_(3)_AR,Short-rib_thoracic_dysplasia_14_with_polydactyly,_616546_(3)_AR|.|.|.|.|L-2-hydroxyglutaric_aciduria,_236792_(3)_AR|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|Congenital_disorder_of_glycosylation,_type_IIa,_212066_(3)_AR|.|.|.|.|.|Intellectual_developmental_disorder_with_speech_delay_and_axonal_peripheral_neuropathy,_619099_(3)_AR|.|?Seckel_syndrome_7,_614851_(3)_AR|Microphthalmia,_syndromic_5,_610125_(3)_AD,Pituitary_hormone_deficiency,_combined,_6,_613986_(3)_AD,Retinal_dystrophy,_early-onset,_with_or_without_pituitary_dysfunction,_610125_(3)_AD|.|.|.|.|.|.|(Asthma,_susceptibility_to,_1),_607277_(3)|(Asthma,_aspirin-induced,_susceptibility_to),_208550_(3)_AR|Glycogen_storage_disease_VI,_232700_(3)_AR|.|.|.|.|.|Diamond-Blackfan_anemia_13,_615909_(3)_AD|.|.|.|.|.|Noonan_syndrome_9,_616559_(3)_AD|.|.|.|Structural_heart_defects_and_renal_anomalies_syndrome,_617478_(3)_AR|.|.|.|.|.|.;OMIM_inheritance=.|.|.|.|.|.|.|.|AD|AD|.|.|.|.|.|.|.|AD|AR|.|.|AR|.|.|.|.|.|.|.|AR,AR,AD|.|.|.|.|.|.|AR|.|.|.|.|AR|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|AR|.|.|.|.|.|AR|.|AR|AD|.|.|.|.|.|.|.|AR|AR|.|.|.|.|.|AD|.|.|.|.|.|AD|.|.|.|AR|.|.|.|.|.|.;OMIM_morbid=yes|.|.|.|.|.|.|.|yes|yes|.|.|.|.|.|.|.|.|yes|.|.|yes|.|.|.|.|.|.|.|yes|.|.|.|.|.|.|yes|.|.|.|.|yes|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|yes|.|.|.|.|.|yes|.|.|yes|.|.|.|.|.|.|.|.|yes|.|.|.|.|.|yes|.|.|.|.|.|yes|.|.|.|yes|.|.|.|.|.|.;OMIM_morbid_candidate=yes|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|yes|.|.|.|.|.|.|.|.|.|.|.|.|.|.|yes|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|yes|.|.|.|.|.|.|.|yes|yes|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;LOEUF_bin=.|8.0|3.0|6.0|3.0|0.0|.|2.0|1.0|1.0|4.0|.|6.0|4.0|4.0|3.0|0.0|2.0|1.0|4.0|.|5.0|.|0.0|2.0|0.0|2.0|.|.|1.0|5.0|7.0|6.0|8.0|2.0|3.0|3.0|4.0|2.0|1.0|.|4.0|7.0|7.0|.|.|.|.|.|.|.|.|.|.|.|.|7.0|1.0|3.0|3.0|.|.|.|.|0.0|1.0|2.0|2.0|1.0|.|1.0|4.0|1.0|.|0.0|8.0|5.0|5.0|.|.|.|.|8.0|6.0|.|0.0|3.0|3.0|5.0|0.0|2.0|7.0|7.0|6.0|4.0|8.0|0.0|3.0|9.0|4.0;GnomAD_pLI=1.0|3.7965e-15|0.0015053|1.3325e-09|0.71536|1.0|.|0.17435|0.98109|0.9564|4.9246e-09|.|2.5004e-07|0.0019455|0.0073203|0.64965|0.99918|0.40017|0.902|1.1806e-14|.|6.4811e-09|.|0.99991|0.1166|0.99999|0.027916|.|.|0.90292|0.0053339|0.50556|0.012367|6.4853e-05|0.42259|0.076522|5.1344e-16|4.4754e-08|0.026499|0.0064543|.|4.2231e-05|9.2642e-07|2.3207e-05|.|.|.|.|.|.|.|.|.|.|.|.|1.107e-08|0.99469|0.64991|0.034151|.|.|.|.|0.98682|0.00035788|4.1103e-09|9.6335e-09|0.92344|.|0.82955|2.8528e-07|0.98462|.|0.99662|3.58e-06|0.0074901|1.71e-17|.|.|.|.|0.048413|0.29053|.|0.99958|0.00090373|0.0085933|1.4208e-05|0.99955|0.37747|1.4914e-10|0.020827|4.729900000000001e-19|0.00074607|5.0571e-05|0.99973|9.949e-06|5.5498e-11|4.3694e-18;ExAC_pLI=1.0|3.2806e-13|0.0047362|0.00010864|0.60061|1.0|.|0.32685|0.99212|0.96747|.|.|3.6034e-05|0.066297|0.0052269|0.84399|0.99999|0.8166|0.96846|1.7411e-05|.|4.7882e-06|.|0.99668|0.0045985|0.99983|0.4384|.|.|0.94249|0.32314|0.52377|0.0055674|0.003932|0.69544|0.059898|1.4487e-12|0.00014822|0.15796|0.63977|.|0.30997|1.5238e-07|0.00017511|.|.|.|.|.|.|.|.|.|.|.|.|8.6073e-07|0.94427|0.38949|0.95503|.|.|.|.|0.97372|0.98171|6.9535e-07|8.9355e-06|0.7446|.|0.94851|0.00015336|0.99028|.|0.99551|4.0209e-05|0.10502|1.3134e-09|.|.|.|.|0.041833|0.34941|.|0.99927|0.77723|0.0096926|1.8589e-06|0.99943|0.97207|4.9349e-08|0.43785|5.8827e-12|0.0033285|0.00078766|0.98791|1.69e-07|2.6175e-08|1.8237e-11;AnnotSV_ranking_score=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;AnnotSV_ranking_criteria=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ACMG_class=.|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA GT 1/0 ./. +14 70000000 . A 9.6 PASS AnnotSV_ID=14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1|14_70000000_80000000__1;SV_chrom=14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14|14;SV_start=70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000|70000000;SV_end=80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000|80000000;SV_length=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;SV_type=||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||;Samples_ID=sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX|sampleX;FORMAT=GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT|GT;sampleX=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|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|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|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|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|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;sample1=./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.|./.;Annotation_mode=full&split;CytoBand=q31.1-q24.1|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.2|q24.2|q24.2|q24.2|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.1|q24.3|q24.3|q24.2|q24.2|q24.3|q24.3|q24.2|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.2|q24.3|q24.3|q24.3|q24.3|q24.2|q24.2|q24.3|q24.2|q24.2|q24.3|q24.3|q24.3|q31.1|q24.2|q24.2|q24.3|q24.3|q24.2|q24.2|q24.3|q24.3|q24.3|q24.3|q24.2|q24.3|q24.3|q24.3|q24.3|q24.3|q31.1-q24.3|q24.3-q24.2|q24.2|q24.2|q24.3|q24.3|q24.3|q24.3|q24.2|q24.3|q24.2|q24.2|q24.3|q24.3|q24.3|q24.2|q24.2|q24.2|q24.3|q24.2|q24.2|q24.2|q24.3|q24.3|q24.2|q24.1|q24.3|q24.2|q24.2|q24.3|q24.3|q24.3|q24.3|q24.2|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.3|q24.2|q24.3;Gene_name=ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,ALDH6A1,ALKBH1,ANGEL1,AREL1,BATF,BBOF1,C14orf178,CCDC177,CIPC,COQ6,COX16,DCAF4,DLST,DNAL1,DPF3,EIF2B2,ENTPD5,ERG28,ESRRB,FAM161B,FCF1,FLVCR2,FOS,GPATCH2L,GSTZ1,HEATR4,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,LIN52,LINC01220,LINC01269,LINC01629,LINC02274,LINC02288,LINC02289,LOC100289511,LOC100506358,LOC100506476,LOC101928075,LOC101928123,LOC101928143,LOC102724153,LOC105370579,LOC105370586,LOC145474,LOC646548,LRRC74A,LTBP2,MAP3K9,MED6,MIDEAS,MIR1260A,MIR4505,MIR4709,MIR7843,MLH3,NEK9,NGB,NOXRED1,NPC2,NRXN3,NUMB,PAPLN,PCNX1,PGF,PNMA1,POMT2,PROX2,PSEN1,PTGR2,RBM25,RGS6,RIOX1,RPS6KL1,SAMD15,SIPA1L1,SLC10A1,SLC8A3,SLIRP,SMOC1,SNORD169,SNORD56B,SNW1,SPTLC2,SRSF5,SUSD6,SYNDIG1L,SYNJ2BP,SYNJ2BP-COX16,TGFB3,TMED10,TMED8,TMEM63C,TTC9,TTLL5,VASH1,VASH1-AS1,VIPAS39,VRTN,VSX2,YLPM1,ZC2HC1C,ZDHHC22,ZFYVE1,ZNF410|ABCD4|ACOT1|ACOT2|ACOT4|ACOT6|ACYP1|ADAM20|ADAM20P1|ADAM21|ADAM21P1|ADCK1|AHSA1|ALDH6A1|ALKBH1|ANGEL1|AREL1|BATF|BBOF1|C14orf178|CCDC177|CIPC|COQ6|COX16|DCAF4|DLST|DNAL1|DPF3|EIF2B2|ENTPD5|ERG28|ESRRB|FAM161B|FCF1|FLVCR2|FOS|GPATCH2L|GSTZ1|HEATR4|IFT43|IRF2BPL|ISCA2|ISM2|JDP2|LIN52|LINC01220|LINC01269|LINC01629|LINC02274|LINC02288|LINC02289|LOC100289511|LOC100506358|LOC100506476|LOC101928075|LOC101928123|LOC101928143|LOC102724153|LOC105370579|LOC105370586|LOC145474|LOC646548|LRRC74A|LTBP2|MAP3K9|MED6|MIDEAS|MIR1260A|MIR4505|MIR4709|MIR7843|MLH3|NEK9|NGB|NOXRED1|NPC2|NRXN3|NUMB|PAPLN|PCNX1|PGF|PNMA1|POMT2|PROX2|PSEN1|PTGR2|RBM25|RGS6|RIOX1|RPS6KL1|SAMD15|SIPA1L1|SLC10A1|SLC8A3|SLIRP|SMOC1|SNORD169|SNORD56B|SNW1|SPTLC2|SRSF5|SUSD6|SYNDIG1L|SYNJ2BP|SYNJ2BP-COX16|TGFB3|TMED10|TMED8|TMEM63C|TTC9|TTLL5|VASH1|VASH1-AS1|VIPAS39|VRTN|VSX2|YLPM1|ZC2HC1C|ZDHHC22|ZFYVE1|ZNF410;Gene_count=120.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Tx=.|NM_005050|NM_001037161|NM_006821|NM_152331|NM_001365788|NM_001302617|NM_003814|NR_037933|NM_003813|NR_003951|NM_001366487|NM_012111|NM_005589|NM_006020|NM_001370746|NM_001039479|NM_006399|NM_025057|NR_161323|NM_001271507|NM_033426|NM_182476|NM_016468|NM_001352449|NM_001933|NM_031427|NM_001280544|NM_014239|NM_001249|NM_007176|NM_004452|NM_152445|NM_015962|NM_017791|NM_005252|NM_017926|NM_001363703|NM_001220484|NM_052873|NM_024496|NM_194279|NM_199296|NM_001135049|NM_001372005|NR_038421|NR_125769|NR_133913|NR_135238|NR_110554|NR_110553|NR_029378|NR_149012|NR_109995|NR_110071|NR_135248|NR_135251|NR_110552|NR_169510|NR_135159|NR_027046|NR_135825|NM_194287|NM_000428|NM_033141|NM_001284211|NM_001367710|NR_031661|NR_039727|NR_039858|NR_106994|NM_001040108|NM_001329237|NM_021257|NM_001113475|NM_001363688|NM_001366426|NM_001005743|NM_001365906|NM_014982|NM_002632|NM_006029|NM_013382|NM_001243007|NM_000021|NM_001146154|NM_021239|NM_001370275|NM_024644|NM_001370252|NM_001010860|NM_001354285|NM_003049|NM_183002|NM_031210|NM_001034852|NR_145786|NR_001276|NM_001318844|NM_004863|NM_001039465|NM_014734|NM_001105579|NM_018373|NM_001202547|NM_001329939|NM_006827|NM_001346131|NM_020431|NM_015351|NM_015072|NM_014909|NR_104183|NM_001193314|NM_018228|NM_182894|NM_019589|NM_024643|NM_174976|NM_021260|NM_001242924;Tx_start=.|74751971.0|74003846.0|74035916.0|74058409.0|74079220.0|75519945.0|70989074.0|70935595.0|70918890.0|70712469.0|78266451.0|77924435.0|74523549.0|78138746.0|77252351.0|75127958.0|75988811.0|74486051.0|78227110.0|70036515.0|77564600.0|74417004.0|70791797.0|73393171.0|75348618.0|74111688.0|73127750.0|75469623.0|74429933.0|76116133.0|76837613.0|74398978.0|75179846.0|76044962.0|75745530.0|76618264.0|77790881.0|73945188.0|76452105.0|77490885.0|74960467.0|77940737.0|75898836.0|74551658.0|75761106.0|71165414.0|77425980.0|74289261.0|77507391.0|77535522.0|70232999.0|70278476.0|74254062.0|71075514.0|73710725.0|73927640.0|76041246.0|77497901.0|79666324.0|71954577.0|70653824.0|77292750.0|74964885.0|71189242.0|71049937.0|74181824.0|77732560.0|74225449.0|74946835.0|72983527.0|75480477.0|75546055.0|77731833.0|77860364.0|74946637.0|78636715.0|73741917.0|73704213.0|71374175.0|75408532.0|74178485.0|77741298.0|75319735.0|73603214.0|74318533.0|73525241.0|72399145.0|73957637.0|75370653.0|77843720.0|71787192.0|70242132.0|70510931.0|78174445.0|70346132.0|70444849.0|71865053.0|78183943.0|77972339.0|70233858.0|70078312.0|74872601.0|70833215.0|70791797.0|76424403.0|75598171.0|77801371.0|77648140.0|71108632.0|76127588.0|77227810.0|77248075.0|77893017.0|74815173.0|74706151.0|75230018.0|75536343.0|77597612.0|73436158.0|74353561.0;Tx_end=.|74769637.0|74010500.0|74042359.0|74062471.0|74086592.0|75536193.0|71001721.0|70950473.0|70926622.0|70714518.0|78401357.0|77935815.0|74551156.0|78174366.0|77279225.0|75179783.0|76013334.0|74532795.0|78236085.0|70041588.0|77583630.0|74430373.0|70826400.0|73426411.0|75370445.0|74170434.0|73359357.0|75479069.0|74485991.0|76127219.0|76968180.0|74416797.0|75205323.0|76114509.0|75748933.0|76680686.0|77797940.0|74025651.0|76550085.0|77495051.0|74963809.0|77965159.0|75939406.0|74584997.0|75763111.0|71178870.0|77432145.0|74296838.0|77535846.0|77542534.0|70234430.0|70282684.0|74270331.0|71108015.0|73712709.0|73930348.0|76045931.0|77500549.0|79667975.0|71956420.0|70699300.0|77336647.0|75078940.0|71276230.0|71067407.0|74227006.0|77732633.0|74225522.0|74946907.0|72983606.0|75518170.0|75593751.0|77737655.0|77889399.0|74960215.0|80334634.0|73925286.0|73741330.0|71582099.0|75422467.0|74181087.0|77787226.0|75342848.0|73690399.0|74352429.0|73590607.0|73033238.0|73960098.0|75389963.0|77857643.0|72207926.0|70263958.0|70655668.0|78183941.0|70499083.0|70444913.0|71865124.0|78227499.0|78082980.0|70238722.0|70181861.0|74892913.0|70883807.0|70883807.0|76449354.0|75643315.0|77843437.0|77725838.0|71142083.0|76421422.0|77249358.0|77253067.0|77923944.0|74826711.0|74729441.0|75304021.0|75546691.0|77608134.0|73493814.0|74399224.0;Overlapped_tx_length=.|17666.0|6654.0|6443.0|4062.0|7372.0|16248.0|12647.0|14878.0|7732.0|2049.0|134906.0|11380.0|27607.0|35620.0|26874.0|51825.0|24523.0|46744.0|8975.0|5073.0|19030.0|13369.0|34603.0|33240.0|21827.0|58746.0|231607.0|9446.0|56058.0|11086.0|130567.0|17819.0|25477.0|69547.0|3403.0|62422.0|7059.0|80463.0|97980.0|4166.0|3342.0|24422.0|40570.0|33339.0|2005.0|13456.0|6165.0|7577.0|28455.0|7012.0|1431.0|4208.0|16269.0|32501.0|1984.0|2708.0|4685.0|2648.0|1651.0|1843.0|45476.0|43897.0|114055.0|86988.0|17470.0|45182.0|73.0|73.0|72.0|79.0|37693.0|47696.0|5822.0|29035.0|13578.0|1363285.0|183369.0|37117.0|207924.0|13935.0|2602.0|45928.0|23113.0|87185.0|33896.0|65366.0|634093.0|2461.0|19310.0|13923.0|420734.0|21826.0|144737.0|9496.0|152951.0|64.0|71.0|43556.0|110641.0|4864.0|103549.0|20312.0|50592.0|92010.0|24951.0|45144.0|42066.0|77698.0|33451.0|293834.0|21548.0|4992.0|30927.0|11538.0|23290.0|74003.0|10348.0|10522.0|57656.0|45663.0;Overlapped_CDS_length=.|1821.0|1266.0|1452.0|1266.0|1266.0|390.0|2181.0|0.0|2169.0|0.0|1743.0|1017.0|1608.0|1170.0|2235.0|2472.0|378.0|1590.0|0.0|2124.0|1200.0|1407.0|321.0|1491.0|1362.0|573.0|1239.0|1056.0|1287.0|423.0|1527.0|1944.0|597.0|1581.0|1143.0|1449.0|654.0|3081.0|642.0|2391.0|465.0|1716.0|525.0|444.0|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|1467.0|5466.0|3357.0|774.0|3300.0|0.0|0.0|0.0|0.0|4362.0|2976.0|456.0|1080.0|525.0|3456.0|1956.0|3837.0|7026.0|513.0|1062.0|2253.0|1779.0|1404.0|1056.0|2532.0|1971.0|1925.0|1698.0|2025.0|5415.0|1050.0|2784.0|330.0|1308.0|0.0|0.0|1716.0|1689.0|819.0|912.0|717.0|438.0|576.0|1239.0|660.0|993.0|2421.0|669.0|3846.0|1098.0|0.0|1482.0|2109.0|1086.0|6441.0|1371.0|792.0|2334.0|1551.0;Overlapped_CDS_percent=.|100.0|100.0|100.0|100.0|100.0|100.0|92.0|0.0|90.0|0.0|100.0|100.0|100.0|100.0|100.0|100.0|100.0|100.0|0.0|98.0|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|72.0|100.0|100.0|100.0|100.0|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|100.0|100.0|100.0|100.0|100.0|0.0|0.0|0.0|0.0|100.0|100.0|100.0|100.0|100.0|78.0|100.0|100.0|100.0|100.0|58.0|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|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|0.0|100.0|65.0|100.0|100.0|100.0|100.0|100.0|100.0;Frameshift=.|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|no|yes|no|no|no|no|no|no|no|no|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=.|19.0|3.0|3.0|3.0|3.0|3.0|2.0|2.0|2.0|1.0|12.0|9.0|12.0|6.0|12.0|20.0|3.0|12.0|3.0|2.0|4.0|12.0|4.0|15.0|15.0|8.0|10.0|8.0|16.0|5.0|11.0|9.0|8.0|10.0|4.0|10.0|9.0|18.0|8.0|1.0|4.0|7.0|4.0|6.0|3.0|4.0|3.0|2.0|4.0|3.0|1.0|2.0|3.0|3.0|2.0|3.0|3.0|2.0|2.0|1.0|4.0|14.0|36.0|13.0|9.0|13.0|1.0|1.0|1.0|1.0|13.0|22.0|4.0|6.0|4.0|22.0|13.0|27.0|36.0|7.0|1.0|21.0|6.0|12.0|10.0|19.0|20.0|2.0|11.0|3.0|25.0|5.0|8.0|4.0|12.0|1.0|1.0|13.0|12.0|8.0|6.0|4.0|4.0|6.0|8.0|5.0|6.0|24.0|3.0|32.0|7.0|3.0|20.0|2.0|5.0|21.0|3.0|3.0|12.0|14.0;Location=.|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-intron17|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|txStart-txEnd|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=.|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|UTR|5'UTR-3'UTR|UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|UTR|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|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-3'UTR|5'UTR-CDS|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|UTR|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|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;Dist_nearest_SS=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|66255.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Nearest_SS_type=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|5'|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Intersect_start=.|74751971.0|74003846.0|74035916.0|74058409.0|74079220.0|75519945.0|70989074.0|70935595.0|70918890.0|70712469.0|78266451.0|77924435.0|74523549.0|78138746.0|77252351.0|75127958.0|75988811.0|74486051.0|78227110.0|70036515.0|77564600.0|74417004.0|70791797.0|73393171.0|75348618.0|74111688.0|73127750.0|75469623.0|74429933.0|76116133.0|76837613.0|74398978.0|75179846.0|76044962.0|75745530.0|76618264.0|77790881.0|73945188.0|76452105.0|77490885.0|74960467.0|77940737.0|75898836.0|74551658.0|75761106.0|71165414.0|77425980.0|74289261.0|77507391.0|77535522.0|70232999.0|70278476.0|74254062.0|71075514.0|73710725.0|73927640.0|76041246.0|77497901.0|79666324.0|71954577.0|70653824.0|77292750.0|74964885.0|71189242.0|71049937.0|74181824.0|77732560.0|74225449.0|74946835.0|72983527.0|75480477.0|75546055.0|77731833.0|77860364.0|74946637.0|78636715.0|73741917.0|73704213.0|71374175.0|75408532.0|74178485.0|77741298.0|75319735.0|73603214.0|74318533.0|73525241.0|72399145.0|73957637.0|75370653.0|77843720.0|71787192.0|70242132.0|70510931.0|78174445.0|70346132.0|70444849.0|71865053.0|78183943.0|77972339.0|70233858.0|70078312.0|74872601.0|70833215.0|70791797.0|76424403.0|75598171.0|77801371.0|77648140.0|71108632.0|76127588.0|77227810.0|77248075.0|77893017.0|74815173.0|74706151.0|75230018.0|75536343.0|77597612.0|73436158.0|74353561.0;Intersect_end=.|74769637.0|74010500.0|74042359.0|74062471.0|74086592.0|75536193.0|71001721.0|70950473.0|70926622.0|70714518.0|78401357.0|77935815.0|74551156.0|78174366.0|77279225.0|75179783.0|76013334.0|74532795.0|78236085.0|70041588.0|77583630.0|74430373.0|70826400.0|73426411.0|75370445.0|74170434.0|73359357.0|75479069.0|74485991.0|76127219.0|76968180.0|74416797.0|75205323.0|76114509.0|75748933.0|76680686.0|77797940.0|74025651.0|76550085.0|77495051.0|74963809.0|77965159.0|75939406.0|74584997.0|75763111.0|71178870.0|77432145.0|74296838.0|77535846.0|77542534.0|70234430.0|70282684.0|74270331.0|71108015.0|73712709.0|73930348.0|76045931.0|77500549.0|79667975.0|71956420.0|70699300.0|77336647.0|75078940.0|71276230.0|71067407.0|74227006.0|77732633.0|74225522.0|74946907.0|72983606.0|75518170.0|75593751.0|77737655.0|77889399.0|74960215.0|80000000.0|73925286.0|73741330.0|71582099.0|75422467.0|74181087.0|77787226.0|75342848.0|73690399.0|74352429.0|73590607.0|73033238.0|73960098.0|75389963.0|77857643.0|72207926.0|70263958.0|70655668.0|78183941.0|70499083.0|70444913.0|71865124.0|78227499.0|78082980.0|70238722.0|70181861.0|74892913.0|70883807.0|70883807.0|76449354.0|75643315.0|77843437.0|77725838.0|71142083.0|76421422.0|77249358.0|77253067.0|77923944.0|74826711.0|74729441.0|75304021.0|75546691.0|77608134.0|73493814.0|74399224.0;RE_gene=ABAT_(morbid/RE=mTL_miRNA),ACTN1_(morbid/RE=EA_enhancer),ACVR1B_(morbid/RE=mTL_miRNA),ACVRL1_(HI=3/morbid/RE=mTL_miRNA),ADAR_(morbid/RE=mTL_miRNA),ADH5_(morbid/RE=mTL_miRNA),ADK_(morbid/RE=mTL_miRNA),AGPS_(morbid/RE=mTL_miRNA),ALDH18A1_(morbid/RE=mTL_miRNA),ALX1_(morbid/RE=mTL_miRNA),AMER1_(morbid/RE=mTL_miRNA),ANK1_(morbid/RE=mTL_miRNA),AP1G1_(morbid/RE=mTL_miRNA),APP_(morbid/RE=mTL_miRNA),ARHGDIA_(morbid/RE=mTL_miRNA),ARSK_(morbid/RE=mTL_miRNA),ATL3_(morbid/RE=mTL_miRNA),ATP6V0A2_(morbid/RE=mTL_miRNA),ATP6V1E1_(morbid/RE=mTL_miRNA),BACH1_(morbid/RE=mTL_miRNA),BBS9_(morbid/RE=mTL_miRNA),C3_(morbid/RE=mTL_miRNA),CABP4_(morbid/RE=mTL_miRNA),CACNA1A_(HI=3/morbid/RE=mTL_miRNA),CACNA1C_(morbid/RE=mTL_miRNA),CALM3_(morbid/RE=mTL_miRNA),CAVIN1_(morbid/RE=mTL_miRNA),CCDC174_(morbid/RE=mTL_miRNA),CCDC39_(morbid/RE=mTL_miRNA),CCND2_(morbid/RE=mTL_miRNA),CD4_(morbid/RE=mTL_miRNA),CDKN1B_(HI=3/morbid/RE=mTL_miRNA),CEP135_(morbid/RE=mTL_miRNA),CERKL_(morbid/RE=mTL_miRNA),CHCHD10_(morbid/RE=mTL_miRNA),CNBP_(morbid/RE=mTL_miRNA),CNNM2_(morbid/RE=mTL_miRNA),CNNM4_(morbid/RE=mTL_miRNA),COL4A1_(morbid/RE=mTL_miRNA),COL9A2_(morbid/RE=mTL_miRNA),COX6B1_(morbid/RE=mTL_miRNA),CPS1_(morbid/RE=mTL_miRNA),CRIPT_(morbid/RE=mTL_miRNA),CSNK2A1_(morbid/RE=mTL_miRNA),CYP11A1_(morbid/RE=mTL_miRNA),DHCR24_(morbid/RE=mTL_miRNA),DNM2_(morbid/RE=mTL_miRNA),ELP2_(morbid/RE=mTL_miRNA),ESR1_(morbid/RE=mTL_miRNA),EXT2_(HI=3/morbid/RE=mTL_miRNA),EZH2_(morbid/RE=mTL_miRNA),F2_(morbid/RE=mTL_miRNA),FAM83H_(morbid/RE=mTL_miRNA),FANCA_(morbid/RE=mTL_miRNA),FOLR1_(morbid/RE=mTL_miRNA),GABRB1_(morbid/RE=mTL_miRNA),GAN_(morbid/RE=mTL_miRNA),GATAD2B_(HI=3/morbid/RE=mTL_miRNA),GJA5_(morbid/RE=mTL_miRNA),GJB1_(morbid/RE=mTL_miRNA),GMNN_(morbid/RE=mTL_miRNA),GRM1_(morbid/RE=mTL_miRNA),IBA57_(morbid/RE=mTL_miRNA),IDH3B_(morbid/RE=mTL_miRNA),IER3IP1_(morbid/RE=mTL_miRNA),IL7R_(morbid/RE=mTL_miRNA),IQSEC1_(morbid/RE=mTL_miRNA),ITGA3_(morbid/RE=mTL_miRNA),ITGA8_(morbid/RE=mTL_miRNA),ITPA_(morbid/RE=mTL_miRNA),KCNH1_(morbid/RE=mTL_miRNA),KCNH2_(HI=3/morbid/RE=mTL_miRNA),KCNN3_(morbid/RE=mTL_miRNA),KDM6B_(morbid/RE=mTL_miRNA),KIF21A_(morbid/RE=mTL_miRNA),KLHL15_(morbid/RE=mTL_miRNA),KMT2A_(HI=3/morbid/RE=mTL_miRNA),KMT2D_(HI=3/morbid/RE=mTL_miRNA),KNL1_(morbid/RE=mTL_miRNA),LDLR_(HI=3/morbid/RE=mTL_miRNA),LIPC_(morbid/RE=mTL_miRNA),LMAN1_(morbid/RE=mTL_miRNA),LMNB1_(TS=3/morbid/RE=mTL_miRNA),LMNB2_(morbid/RE=mTL_miRNA),LMX1B_(HI=3/morbid/RE=mTL_miRNA),LPP_(morbid/RE=mTL_miRNA),LRSAM1_(morbid/RE=mTL_miRNA),MAP3K7_(morbid/RE=mTL_miRNA),MAPK8IP3_(morbid/RE=mTL_miRNA),MCFD2_(morbid/RE=mTL_miRNA),MED17_(morbid/RE=mTL_miRNA),MN1_(morbid/RE=mTL_miRNA),MSH5_(morbid/RE=mTL_miRNA),MTAP_(morbid/RE=mTL_miRNA),MVK_(morbid/RE=mTL_miRNA),NAA10_(morbid/RE=mTL_miRNA),NDNF_(morbid/RE=mTL_miRNA),NECTIN1_(morbid/RE=mTL_miRNA),NEDD4L_(morbid/RE=mTL_miRNA),NEUROD2_(morbid/RE=mTL_miRNA),NF2_(HI=3/morbid/RE=mTL_miRNA),NNT_(morbid/RE=mTL_miRNA),NPM1_(morbid/RE=mTL_miRNA),NR2F2_(morbid/RE=mTL_miRNA),NUP62_(morbid/RE=mTL_miRNA),ORC4_(morbid/RE=mTL_miRNA),PABPN1_(morbid/RE=mTL_miRNA),PDE3A_(morbid/RE=mTL_miRNA),PDE6B_(morbid/RE=mTL_miRNA),PEX2_(morbid/RE=mTL_miRNA),PHEX_(HI=3/morbid/RE=mTL_miRNA),PLAG1_(morbid/RE=mTL_miRNA),PLCB3_(morbid/RE=mTL_miRNA),PLS1_(morbid/RE=mTL_miRNA),PNPO_(morbid/RE=mTL_miRNA),PRKCA_(morbid/RE=mTL_miRNA),PRNP_(morbid/RE=mTL_miRNA),PSAT1_(morbid/RE=mTL_miRNA),PTCH2_(morbid/RE=mTL_miRNA),PTEN_(HI=3/morbid/RE=mTL_miRNA),PTGIS_(morbid/RE=mTL_miRNA),PURA_(HI=3/morbid/RE=mTL_miRNA),RAB18_(morbid/RE=mTL_miRNA),REL_(morbid/RE=mTL_miRNA),RGR_(morbid/RE=mTL_miRNA),RHBDF2_(morbid/RE=mTL_miRNA),RIPK4_(morbid/RE=mTL_miRNA),RIPOR2_(morbid/RE=mTL_miRNA),RORA_(morbid/RE=mTL_miRNA),RPL35A_(morbid/RE=mTL_miRNA),RPS24_(HI=3/morbid/RE=mTL_miRNA),RSRC1_(morbid/RE=mTL_miRNA),SCD_(morbid/RE=mTL_miRNA),SEC61A1_(morbid/RE=mTL_miRNA),SELENOI_(morbid/RE=mTL_miRNA),SH3TC2_(morbid/RE=mTL_miRNA),SHOC2_(morbid/RE=mTL_miRNA),SLC25A22_(morbid/RE=mTL_miRNA),SLC25A42_(morbid/RE=mTL_miRNA),SLC2A1_(HI=3/morbid/RE=mTL_miRNA),SLC2A9_(morbid/RE=mTL_miRNA),SLC6A9_(morbid/RE=mTL_miRNA),SOCS1_(morbid/RE=mTL_miRNA),SPTBN2_(morbid/RE=mTL_miRNA),SRCAP_(morbid/RE=mTL_miRNA),STK4_(morbid/RE=mTL_miRNA),SUPT16H_(morbid/RE=mTL_miRNA),TAF1_(morbid/RE=mTL_miRNA),TAF8_(morbid/RE=mTL_miRNA),TBC1D2B_(morbid/RE=mTL_miRNA),TFAP2A_(morbid/RE=mTL_miRNA),THBD_(morbid/RE=mTL_miRNA),THSD4_(morbid/RE=mTL_miRNA),TIMM8A_(HI=3/morbid/RE=mTL_miRNA),TMEM43_(morbid/RE=mTL_miRNA),TNFAIP3_(morbid/RE=mTL_miRNA),TPI1_(morbid/RE=mTL_miRNA),TPM3_(morbid/RE=mTL_miRNA),TRAF7_(morbid/RE=mTL_miRNA),UGDH_(morbid/RE=mTL_miRNA),VPS4A_(morbid/RE=mTL_miRNA),WAC_(HI=3/morbid/RE=mTL_miRNA),WBP11_(morbid/RE=mTL_miRNA),WDR73_(morbid/RE=mTL_miRNA),WRN_(morbid/RE=mTL_miRNA),XIAP_(HI=3/morbid/RE=mTL_miRNA),XPNPEP3_(morbid/RE=mTL_miRNA),ZNF526_(morbid/RE=mTL_miRNA),ZNF644_(morbid/RE=mTL_miRNA)|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_gain_phen=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_gain_hpo=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_gain_source=dbVar:nssv17973811|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|dbVar:nssv17973811|.|.|.|.|.|.|.|.|.|.;P_gain_coord=14:76147868-76349265|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|14:76147868-76349265|.|.|.|.|.|.|.|.|.|.;P_loss_phen=?Acne_inversa,_familial,_3,_613737_(3)_AD,Alzheimer_disease,_type_3,_607822_(3)_AD,Alzheimer_disease,_type_3,_with_spastic_paraparesis_and_apraxia,_607822_(3)_AD,Alzheimer_disease,_type_3,_with_spastic_paraparesis_and_unusual_plaques,_607822_(3)_AD,Cardiomyopathy,_dilated,_1U,_613694_(3)_AD,Dementia,_frontotemporal,_600274_(3)_AD,Pick_disease,_172700_(3)_AD,?Arthrogryposis,_Perthes_disease,_and_upward_gaze_palsy,_614262_(3)_AR,Lethal_congenital_contracture_syndrome_10,_617022_(3)_AR,Nevus_comedonicus,_somatic,_617025_(3),?Cranioectodermal_dysplasia_3,_614099_(3)_AR,?Retinitis_pigmentosa_81,_617871_(3)_AR,Short-rib_thoracic_dysplasia_18_with_polydactyly,_617866_(3)_AR,?Weill-Marchesani_syndrome_3,_recessive,_614819_(3)_AR,Dental_anomalies_and_short_stature,_601216_(3)_AR,Geleophysic_dysplasia_3,_617809_(3)_AD,Glaucoma_3,_primary_congenital,_D,_613086_(3),Microspherophakia_and,or_megalocornea,_with_ectopia_lentis_and_with_or_without_secondary_glaucoma,_251750_(3)_AR,Arrhythmogenic_right_ventricular_dysplasia_1,_107970_(3)_AD,Loeys-Dietz_syndrome_5,_615582_(3)_AD,Arthrogryposis,_renal_dysfunction,_and_cholestasis_2,_613404_(3)_AR,Ciliary_dyskinesia,_primary,_16,_614017_(3)_AR,Coenzyme_Q10_deficiency,_primary,_6,_614650_(3)_AR,Colorectal_cancer,_hereditary_nonpolyposis,_type_7,_614385_(3),Colorectal_cancer,_somatic,_114500_(3),Endometrial_cancer,_susceptibility_to,_608089_(3)_Somatic_mutation,AD,Cone-rod_dystrophy_19,_615860_(3)_AR,Deafness,_AR_35,_608565_(3)_AR,Hypercholanemia,_familial_2,_619256_(3)_AR,Leukoencephalopathy_with_vanishing_white_matter,_603896_(3)_AR,Ovarioleukodystrophy,_603896_(3)_AR,Methylmalonate_semialdehyde_dehydrogenase_deficiency,_614105_(3)_AR,Methylmalonic_aciduria_and_homocystinuria,_cblJ_type,_614857_(3)_AR,Microphthalmia_with_coloboma_3,_610092_(3),Microphthalmia,_isolated_2,_610093_(3),Microphthalmia_with_limb_anomalies,_206920_(3)_AR,Mitochondrial_complex_IV_deficiency,_nuclear_type_22,_619355_(3)_AR,Multiple_mitochondrial_dysfunctions_syndrome_4,_616370_(3)_AR,Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_2,_613150_(3)_AR,Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation),_type_B,_2,_613156_(3)_AR,Muscular_dystrophy-dystroglycanopathy_(limb-girdle),_type_C,_2,_613158_(3)_AR,Neurodevelopmental_disorder_with_regression,_abnormal_movements,_loss_of_speech,_and_seizures,_618088_(3)_AD,Neuropathy,_hereditary_sensory_and_autonomic,_type_IC,_613640_(3)_AD,Niemann-pick_disease,_type_C2,_607625_(3)_AR,Paragangliomas_7,_618475_(3)_AD,Proliferative_vasculopathy_and_hydranencephaly-hydrocephaly_syndrome,_225790_(3)_AR,Spastic_paraplegia_87,_AR,_619966_(3)_AR|Methylmalonic_aciduria_and_homocystinuria,_cblJ_type,_614857_(3)_AR|.|.|.|.|.|.|.|.|.|.|.|Methylmalonate_semialdehyde_dehydrogenase_deficiency,_614105_(3)_AR|.|.|.|.|.|.|.|.|Coenzyme_Q10_deficiency,_primary,_6,_614650_(3)_AR|Mitochondrial_complex_IV_deficiency,_nuclear_type_22,_619355_(3)_AR|.|Paragangliomas_7,_618475_(3)_AD|Ciliary_dyskinesia,_primary,_16,_614017_(3)_AR|.|Leukoencephalopathy_with_vanishing_white_matter,_603896_(3)_AR,Ovarioleukodystrophy,_603896_(3)_AR|.|.|Deafness,_AR_35,_608565_(3)_AR|.|.|Proliferative_vasculopathy_and_hydranencephaly-hydrocephaly_syndrome,_225790_(3)_AR|.|.|.|.|?Cranioectodermal_dysplasia_3,_614099_(3)_AR,?Retinitis_pigmentosa_81,_617871_(3)_AR,Short-rib_thoracic_dysplasia_18_with_polydactyly,_617866_(3)_AR|Neurodevelopmental_disorder_with_regression,_abnormal_movements,_loss_of_speech,_and_seizures,_618088_(3)_AD|Multiple_mitochondrial_dysfunctions_syndrome_4,_616370_(3)_AR|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|?Weill-Marchesani_syndrome_3,_recessive,_614819_(3)_AR,Dental_anomalies_and_short_stature,_601216_(3)_AR,Geleophysic_dysplasia_3,_617809_(3)_AD,Glaucoma_3,_primary_congenital,_D,_613086_(3),Microspherophakia_and,or_megalocornea,_with_ectopia_lentis_and_with_or_without_secondary_glaucoma,_251750_(3)_AR|.|.|.|.|.|.|.|Colorectal_cancer,_hereditary_nonpolyposis,_type_7,_614385_(3),Colorectal_cancer,_somatic,_114500_(3),Endometrial_cancer,_susceptibility_to,_608089_(3)_Somatic_mutation,AD|?Arthrogryposis,_Perthes_disease,_and_upward_gaze_palsy,_614262_(3)_AR,Lethal_congenital_contracture_syndrome_10,_617022_(3)_AR,Nevus_comedonicus,_somatic,_617025_(3)|.|.|Niemann-pick_disease,_type_C2,_607625_(3)_AR|.|.|.|.|.|.|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_2,_613150_(3)_AR,Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation),_type_B,_2,_613156_(3)_AR,Muscular_dystrophy-dystroglycanopathy_(limb-girdle),_type_C,_2,_613158_(3)_AR|.|?Acne_inversa,_familial,_3,_613737_(3)_AD,Alzheimer_disease,_type_3,_607822_(3)_AD,Alzheimer_disease,_type_3,_with_spastic_paraparesis_and_apraxia,_607822_(3)_AD,Alzheimer_disease,_type_3,_with_spastic_paraparesis_and_unusual_plaques,_607822_(3)_AD,Cardiomyopathy,_dilated,_1U,_613694_(3)_AD,Dementia,_frontotemporal,_600274_(3)_AD,Pick_disease,_172700_(3)_AD|.|.|.|.|.|.|.|Hypercholanemia,_familial_2,_619256_(3)_AR|.|.|Microphthalmia_with_limb_anomalies,_206920_(3)_AR|.|.|.|Neuropathy,_hereditary_sensory_and_autonomic,_type_IC,_613640_(3)_AD|.|.|.|.|Mitochondrial_complex_IV_deficiency,_nuclear_type_22,_619355_(3)_AR|Arrhythmogenic_right_ventricular_dysplasia_1,_107970_(3)_AD,Loeys-Dietz_syndrome_5,_615582_(3)_AD|.|.|Spastic_paraplegia_87,_AR,_619966_(3)_AR|.|Cone-rod_dystrophy_19,_615860_(3)_AR|.|.|Arthrogryposis,_renal_dysfunction,_and_cholestasis_2,_613404_(3)_AR|.|Microphthalmia_with_coloboma_3,_610092_(3),Microphthalmia,_isolated_2,_610093_(3)|.|.|.|.|.;P_loss_hpo=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_loss_source=dbVar:nssv15137373,dbVar:nssv15141227,dbVar:nssv15145638,dbVar:nssv15152259,dbVar:nssv15161370,dbVar:nssv15161729,dbVar:nssv15605786,dbVar:nssv15770207,dbVar:nssv15770894,dbVar:nssv15770928,dbVar:nssv15771003,dbVar:nssv15772936,dbVar:nssv16212499,dbVar:nssv16214212,dbVar:nssv16214571,dbVar:nssv16214591,dbVar:nssv17171646,dbVar:nssv17971211,dbVar:nssv17971505,dbVar:nssv17971688,dbVar:nssv17971735,dbVar:nssv17972070,dbVar:nssv17972981,dbVar:nssv17973837,dbVar:nssv8639619,dbVar:nssv8639763,morbid:ABCD4,morbid:ALDH6A1,morbid:COQ6,morbid:COX16,morbid:DLST,morbid:DNAL1,morbid:EIF2B2,morbid:ESRRB,morbid:FLVCR2,morbid:IFT43,morbid:IRF2BPL,morbid:ISCA2,morbid:LTBP2,morbid:MLH3,morbid:NEK9,morbid:NPC2,morbid:POMT2,morbid:PSEN1,morbid:SLC10A1,morbid:SMOC1,morbid:SPTLC2,morbid:TGFB3,morbid:TMEM63C,morbid:TTLL5,morbid:VIPAS39,morbid:VSX2|dbVar:nssv17972981,morbid:ABCD4|.|.|.|.|.|.|.|.|.|.|.|morbid:ALDH6A1|.|.|.|.|.|.|.|.|morbid:COQ6|morbid:COX16|.|morbid:DLST|dbVar:nssv15770894,morbid:DNAL1|.|morbid:EIF2B2|.|.|dbVar:nssv8639763,morbid:ESRRB|.|.|morbid:FLVCR2|.|.|.|.|morbid:IFT43|morbid:IRF2BPL|morbid:ISCA2|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|morbid:LTBP2|.|.|.|.|.|.|.|morbid:MLH3|morbid:NEK9|.|.|dbVar:nssv16214591,dbVar:nssv17171646,morbid:NPC2|dbVar:nssv15137373,dbVar:nssv15141227|.|.|.|.|.|morbid:POMT2|.|dbVar:nssv15145638,dbVar:nssv17971688,morbid:PSEN1|.|.|.|.|.|.|.|morbid:SLC10A1|.|.|morbid:SMOC1|.|.|.|morbid:SPTLC2|.|.|.|.|morbid:COX16|dbVar:nssv15770928,dbVar:nssv15771003,dbVar:nssv16214212,dbVar:nssv17971735,dbVar:nssv17973837,morbid:TGFB3|.|.|morbid:TMEM63C|.|dbVar:nssv15152259,dbVar:nssv15772936,dbVar:nssv16212499,dbVar:nssv16214571,dbVar:nssv17971211,dbVar:nssv17972070,morbid:TTLL5|.|.|morbid:VIPAS39|.|dbVar:nssv15770207,dbVar:nssv17971505,morbid:VSX2|.|.|.|.|.;P_loss_coord=14:70242132-70263958,14:70346132-70499083,14:70791797-70826400,14:73152115-77698582,14:73603214-73690399,14:73671466-73676021,14:73673074-73673200,14:73809921-79301402,14:74040231-76368547,14:74111688-74170434,14:74138225-74138320,14:74343775-78508765,14:74417004-74430373,14:74523549-74551156,14:74706151-74729441,14:74706255-74712001,14:74707875-74712001,14:74751971-74769637,14:74766231-74769615,14:74946642-74960008,14:74946967-74959987,14:74959886-74959987,14:74960467-74963809,14:74964885-75078940,14:75348618-75370445,14:75469623-75479069,14:75480477-75518170,14:75546055-75593751,14:76071882-76114509,14:76127588-76421422,14:76184184-76201652,14:76184204-76201632,14:76211438-76249873,14:76224142-76232711,14:76279519-76359171,14:76286330-76286524,14:76425035-76432048,14:76425035-76438071,14:76425035-76447266,14:76425530-76432058,14:76425530-76447236,14:76429403-76448338,14:76452105-76550085,14:76842479-76968180,14:76905697-76967064,14:77490885-77495051,14:77648140-77725838,14:77741298-77787226,14:77893017-77923944,14:77972339-78082980,14:79293058-79466714,14:79420297-79928269|14:74751971-74769637,14:74766231-74769615|.|.|.|.|.|.|.|.|.|.|.|14:74523549-74551156|.|.|.|.|.|.|.|.|14:74417004-74430373|14:70791797-70826400|.|14:75348618-75370445|14:74111688-74170434,14:74138225-74138320|.|14:75469623-75479069|.|.|14:76842479-76968180,14:76905697-76967064|.|.|14:76071882-76114509|.|.|.|.|14:76452105-76550085|14:77490885-77495051|14:74960467-74963809|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|14:74964885-75078940|.|.|.|.|.|.|.|14:75480477-75518170|14:75546055-75593751|.|.|14:74946642-74960008,14:74946967-74959987,14:74959886-74959987|14:79293058-79466714,14:79420297-79928269|.|.|.|.|.|14:77741298-77787226|.|14:73603214-73690399,14:73671466-73676021,14:73673074-73673200|.|.|.|.|.|.|.|14:70242132-70263958|.|.|14:70346132-70499083|.|.|.|14:77972339-78082980|.|.|.|.|14:70791797-70826400|14:76425035-76432048,14:76425035-76438071,14:76425035-76447266,14:76425530-76432058,14:76425530-76447236,14:76429403-76448338|.|.|14:77648140-77725838|.|14:76127588-76421422,14:76184184-76201652,14:76184204-76201632,14:76211438-76249873,14:76224142-76232711,14:76279519-76359171,14:76286330-76286524|.|.|14:77893017-77923944|.|14:74706151-74729441,14:74706255-74712001,14:74707875-74712001|.|.|.|.|.;P_ins_phen=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_ins_hpo=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_ins_source=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_ins_coord=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_phen=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_hpo=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_source=dbVar:nssv15145897,dbVar:nssv15161067,dbVar:nssv15161081,dbVar:nssv15161107,nssv15161424,dbVar:nssv15161629,dbVar:nssv15161689,dbVar:nssv15161760,dbVar:nssv15161908,dbVar:nssv15162475,dbVar:nssv15162476,dbVar:nssv17517489|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_coord=14:19000422-107289053,14:19280733-107287663,14:19327823-107287663,14:19794561-107234280,14:20511673-107285437,14:20619308-107263478,14:54654001-75828024,14:73750741-107285437,14:74122475-107287505,14:77689138-107287505,14:79797066-86351851|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_gain_percent=11.33,11.36,11.37,11.44,11.52,11.54,17.72,18.64,27.52,3.10,7.81|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_phen=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_hpo=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_source=dbVar:nssv15120314,dbVar:nssv15137125,dbVar:nssv15151835,dbVar:nssv15161064,dbVar:nssv15775589|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_coord=14:68035240-73568130,14:70028816-82441728,14:75955395-80076675,14:77274990-89803137,14:77659348-80942475|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_P_loss_percent=21.75,64.49,71.29,80.33,98.14|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;P_snvindel_nb=234.0|5.0|.|.|.|.|.|.|.|.|.|.|.|1.0|.|.|.|.|.|.|.|.|7.0|.|.|.|3.0|.|8.0|.|.|.|.|.|.|.|.|1.0|.|9.0|14.0|1.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|8.0|.|.|.|.|.|.|.|.|2.0|.|.|14.0|.|.|.|.|.|.|33.0|.|49.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|4.0|.|.|.|.|.|17.0|.|.|.|.|37.0|.|.|4.0|.|17.0|.|.|.|.|.;P_snvindel_phen=Abnormality_of_the_nervous_system,Acne_inversa,_familial,_3,Alzheimer_disease,Alzheimer_disease,_familial,_3,_with_unusual_plaques,Alzheimer_disease,_familial,_with_spastic_paraparesis_and_unusual_plaques,Alzheimer_disease_3,Alzheimer_disease_4,Anophthalmia-microphthalmia_syndrome,Arrhythmogenic_right_ventricular_dysplasia_1,Arthrogryposis,_renal_dysfunction,_and_cholestasis_1,Autosomal_recessive_limb-girdle_muscular_dystrophy,Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N,Axial_hypotonia,Cardiovascular_phenotype,Central_areolar_choroidal_dystrophy,Charcot-Marie-Tooth_disease,Cobalamin_C_disease,Cone-rod_dystrophy,Cone-rod_dystrophy_19,Cranioectodermal_dysplasia_3,Death_in_infancy,Dementia,Early-onset_autosomal_dominant_Alzheimer_disease,Failure_to_thrive,Familial_Alzheimer_disease,Familial_steroid-resistant_nephrotic_syndrome_with_sensorineural_deafness,Familial_thoracic_aortic_aneurysm_and_aortic_dissection,Fatal_multiple_mitochondrial_dysfunctions_syndrome,Frontotemporal_dementia,Glaucoma_3,_primary_congenital,_D,Global_developmental_delay,High_CSF_lactic_acid,IRF2BPL-related_condition,Inborn_genetic_diseases,Isolated_microphthalmia_2,Loeys-Dietz_syndrome_4,Maleylacetoacetate_isomerase_deficiency,Mental_deterioration,Methylmalonate_semialdehyde_dehydrogenase_deficiency,Methylmalonic_acidemia_with_homocystinuria,_type_cblJ,Microphthalmia,_cataracts,_and_iris_abnormalities,Microphthalmia,_isolated,_with_coloboma_3,Microspherophakia,Multiple_mitochondrial_dysfunctions_syndrome_4,Muscular_dystrophy,Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1,Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2,Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2,Neurodegeration,Neurodevelopmental_disorder_with_regression,_abnormal_movements,_loss_of_speech,_and_seizures,Neuropathy,_hereditary_sensory_and_autonomic,_type_1C,Niemann-Pick_disease,_type_C,Niemann-Pick_disease,_type_C1,Niemann-Pick_disease,_type_C2,Optic_atrophy,Ovarioleukodystrophy,Pick_disease,Primary_ciliary_dyskinesia,Primary_ciliary_dyskinesia_16,Retinal_dystrophy,Retinitis_pigmentosa,Rienhoff_syndrome,See_cases,Short-rib_thoracic_dysplasia_18_with_polydactyly,Short_rib-polydactyly_syndrome,Spastic_paraparesis,Spastic_tetraplegia,Vanishing_white_matter_disease|Cobalamin_C_disease,Methylmalonic_acidemia_with_homocystinuria,_type_cblJ|.|.|.|.|.|.|.|.|.|.|.|Methylmalonate_semialdehyde_dehydrogenase_deficiency|.|.|.|.|.|.|.|.|Familial_steroid-resistant_nephrotic_syndrome_with_sensorineural_deafness|.|.|.|Primary_ciliary_dyskinesia,Primary_ciliary_dyskinesia_16|.|Abnormality_of_the_nervous_system,Ovarioleukodystrophy,See_cases,Vanishing_white_matter_disease|.|.|.|.|.|.|.|.|Maleylacetoacetate_isomerase_deficiency|.|Cranioectodermal_dysplasia_3,Short-rib_thoracic_dysplasia_18_with_polydactyly,Short_rib-polydactyly_syndrome|IRF2BPL-related_condition,Inborn_genetic_diseases,Neurodevelopmental_disorder_with_regression,_abnormal_movements,_loss_of_speech,_and_seizures|Axial_hypotonia,Death_in_infancy,Failure_to_thrive,Fatal_multiple_mitochondrial_dysfunctions_syndrome,Global_developmental_delay,High_CSF_lactic_acid,Multiple_mitochondrial_dysfunctions_syndrome_4,Neurodegeration,Optic_atrophy,Spastic_tetraplegia|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|Glaucoma_3,_primary_congenital,_D,Microspherophakia|.|.|.|.|.|.|.|.|.|.|.|Niemann-Pick_disease,_type_C,Niemann-Pick_disease,_type_C1,Niemann-Pick_disease,_type_C2|.|.|.|.|.|.|Autosomal_recessive_limb-girdle_muscular_dystrophy,Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N,Muscular_dystrophy,Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1,Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2,Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2|.|Abnormality_of_the_nervous_system,Acne_inversa,_familial,_3,Alzheimer_disease,Alzheimer_disease,_familial,_3,_with_unusual_plaques,Alzheimer_disease,_familial,_with_spastic_paraparesis_and_unusual_plaques,Alzheimer_disease_3,Alzheimer_disease_4,Dementia,Early-onset_autosomal_dominant_Alzheimer_disease,Familial_Alzheimer_disease,Frontotemporal_dementia,Mental_deterioration,Pick_disease,Spastic_paraparesis|.|.|.|.|.|.|.|.|.|.|.|.|.|.|Charcot-Marie-Tooth_disease,Neuropathy,_hereditary_sensory_and_autonomic,_type_1C|.|.|.|.|.|Arrhythmogenic_right_ventricular_dysplasia_1,Cardiovascular_phenotype,Familial_thoracic_aortic_aneurysm_and_aortic_dissection,Loeys-Dietz_syndrome_4,Rienhoff_syndrome|.|.|.|.|Central_areolar_choroidal_dystrophy,Cone-rod_dystrophy,Cone-rod_dystrophy_19,Retinal_dystrophy,Retinitis_pigmentosa|.|.|Arthrogryposis,_renal_dysfunction,_and_cholestasis_1|.|Anophthalmia-microphthalmia_syndrome,Isolated_microphthalmia_2,Microphthalmia,_cataracts,_and_iris_abnormalities,Microphthalmia,_isolated,_with_coloboma_3|.|.|.|.|.;B_gain_source=.|.|DDD:43163,dgv655e212,dgv657e212|DDD:43163|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|gnomAD-SV_v2.1_DUP_14_38744|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;B_gain_coord=.|.|14:73995761-74031034,14:73998503-74050492,14:74001110-74024031|14:73998503-74050492|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|14:74223999-74229000|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;B_gain_AFmax=.|.|0.1799|0.1799|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|0.0152|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;B_loss_source=.|.|1000g,CMRI:3_pbsv.DEL.1043_duplicate5,DDD:43161,DDD:43163,DDD:43165,dgv401e199,dgv654e212,esv2421969,esv3634909|DDD:43163,DDD:43178,gnomAD-SV_v2.1_DEL_14_143695|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;B_loss_coord=.|.|14:73995761-74031034,14:73996445-74025592,14:73997051-74024450,14:73997195-74024603,14:73997195-74024603,14:73998503-74050492,14:73998976-74028117,14:74001123-74020979,14:74000312-74028320|14:73998503-74050492,14:74019699-74051250,14:74022141-74045835|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;B_loss_AFmax=.|.|0.8135|0.2095|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;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=1000g,gnomAD-SV_v2.1_DUP_14_38673,1000g,gnomAD-SV_v2.1_DUP_14_38676,gnomAD-SV_v2.1_DUP_14_38678,1000g,gnomAD-SV_v2.1_DUP_14_38688,CMRI:135_pbsv.INS.DUP.757_duplicate1,CMRI:0_pbsv.INS.DUP.585,1000g,gnomAD-SV_v2.1_DUP_14_38689,1000g,1000g,CMRI:3_pbsv.INS.DUP.998,1000g,gnomAD-SV_v2.1_DUP_14_38706,nsv514745,nsv514746,DDD:43168,DDD:43169,nsv514748,nsv514750,nsv514751,1000g,gnomAD-SV_v2.1_DUP_14_38744,gnomAD-SV_v2.1_DUP_14_38746,CMRI:3_pbsv.INS.DUP.1047_duplicate1,1000g,1000g,1000g,1000g,DDD:43238,gnomAD-SV_v2.1_DUP_14_38777,CMRI:78_pbsv.INS.DUP.673_duplicate1,1000g,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38782,gnomAD-SV_v2.1_DUP_14_38788,CMRI:102_pbsv.INS.DUP.800_duplicate1,gnomAD-SV_v2.1_DUP_14_38794,CMRI:2_pbsv.INS.DUP.897_duplicate1,1000g,1000g,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38802,1000g,1000g,1000g,1000g,1000g,1000g,nsv514752,1000g,1000g,1000g,1000g,gnomAD-SV_v2.1_DUP_14_38705,CMRI:2_pbsv.INS.DUP.832,dgv655e212,DDD:43163,dgv657e212,gnomAD-SV_v2.1_DUP_14_38740,DDD:43174,1000g,1000g,dgv407e214,DDD:43176,1000g,dgv408e214,gnomAD-SV_v2.1_DUP_14_38773,gnomAD-SV_v2.1_DUP_14_38715,gnomAD-SV_v2.1_DUP_14_38756,1000g,1000g|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_gain_someG_coord=14:70108049-70108050,14:70189969-70190060,14:70212703-70212704,14:70396883-70396951,14:70658720-70658790,14:71197799-71197800,14:71280208-71280354,14:71280210-71280325,14:71280219-71280345,14:71320960-71321253,14:71415956-71416009,14:71446221-71446222,14:71480284-71480285,14:72078204-72078254,14:72333719-72333720,14:72606822-72606907,14:73995175-73995703,14:73997199-73999175,14:74001654-74002844,14:74001654-74004589,14:74008287-74008463,14:74023231-74024207,14:74040071-74040359,14:74186546-74186547,14:74223999-74229000,14:74286859-74286914,14:74286861-74286915,14:74444973-74444974,14:74726135-74726136,14:74942158-74942159,14:75499581-75499582,14:75894566-75895179,14:75975026-75975119,14:75975028-75975112,14:76176317-76176318,14:76195807-76195808,14:76353219-76353220,14:76465531-76465586,14:76824729-76824838,14:76873796-76873971,14:76962743-76962802,14:76962745-76962800,14:77040754-77040755,14:77116243-77116244,14:77146469-77146470,14:77295034-77295035,14:77701859-77702245,14:77926812-77926813,14:78043528-78043529,14:78045153-78045154,14:78107423-78107424,14:78263360-78263361,14:78486232-78486233,14:78638503-78640247,14:78982709-78982710,14:79088923-79088924,14:79346292-79346604,14:79653926-79654025,14:72466390-72466465,14:72466392-72466464,14:73995761-74031034,14:73998503-74050492,14:74001110-74024031,14:74007918-74039902,14:74010620-74023183,14:74011083-74024007,14:74011083-74024007,14:74011083-74024007,14:74020543-74030798,14:74028137-74040600,14:74028137-74040600,14:75723499-75728500,14:73268914-73270563,14:74570222-74598132,14:74571114-74596638,14:78249852-78250190|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_loss_allG_source=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_loss_allG_coord=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_loss_someG_source=1000g,esv3634839,DDD:43099,esv2670684,gnomAD-SV_v2.1_DEL_14_143475,esv2421928,DDD:43100,nsv514744,CMRI:3_pbsv.DEL.948_duplicate7,DDD:43104,CMRI:8_pbsv.DEL.706_duplicate5,CMRI:0_pbsv.DEL.571_duplicate4,1000g,1000g,1000g,esv3634853,DDD:43108,esv2662724,gnomAD-SV_v2.1_DEL_14_143512,esv2659641,gnomAD-SV_v2.1_DEL_14_143513,CMRI:0_pbsv.DEL.573_duplicate3,CMRI:0_pbsv.DEL.574_duplicate2,1000g,1000g,gnomAD-SV_v2.1_DEL_14_143522,CMRI:0_pbsv.DEL.578_duplicate1,CMRI:2_pbsv.DEL.802_duplicate3,CMRI:11_pbsv.DEL.1065_duplicate4,CMRI:42_pbsv.DEL.568_duplicate7,CMRI:0_pbsv.DEL.581_duplicate2,CMRI:6_pbsv.DEL.929_duplicate6,CMRI:2_pbsv.DEL.804_duplicate5,CMRI:3_pbsv.DEL.968_duplicate5,CMRI:19_pbsv.DEL.581_duplicate7,CMRI:1_pbsv.DEL.584_duplicate10,CMRI:43_pbsv.DEL.732_duplicate5,gnomAD-SV_v2.1_DEL_14_143537,CMRI:3_pbsv.DEL.973_duplicate9,gnomAD-SV_v2.1_DEL_14_143541,CMRI:1_pbsv.DEL.594_duplicate7,CMRI:2_pbsv.DEL.815_duplicate7,CMRI:3_pbsv.DEL.979_duplicate5,1000g,gnomAD-SV_v2.1_DEL_14_143553,CMRI:0_pbsv.DEL.588_duplicate2,gnomAD-SV_v2.1_DEL_14_143558,CMRI:0_pbsv.DEL.590_duplicate3,CMRI:74_pbsv.DEL.628_duplicate8,gnomAD-SV_v2.1_DEL_14_143564,esv2675445,CMRI:53_pbsv.DEL.809_duplicate7,gnomAD-SV_v2.1_DEL_14_143568,DDD:43128,CMRI:25_pbsv.DEL.772_duplicate9,esv2656749,gnomAD-SV_v2.1_DEL_14_143574,CMRI:22_pbsv.DEL.782_duplicate10,CMRI:98_pbsv.DEL.806,DDD:43133,gnomAD-SV_v2.1_DEL_14_143602,gnomAD-SV_v2.1_DEL_14_143605,1000g,CMRI:2_pbsv.DEL.833_duplicate8,1000g,1000g,esv3634894,DDD:43144,esv2675309,gnomAD-SV_v2.1_DEL_14_143642,CMRI:1_pbsv.DEL.623_duplicate3,DDD:43145,CMRI:1_pbsv.DEL.626_duplicate6,DDD:43146,DDD:43151,esv2669446,1000g,esv3634900,gnomAD-SV_v2.1_DEL_14_143664,CMRI:0_pbsv.DEL.614_duplicate3,esv2677511,CMRI:0_pbsv.DEL.615_duplicate2,CMRI:213_pbsv.DEL.958_duplicate10,CMRI:7_pbsv.DEL.709_duplicate7,CMRI:25_pbsv.DEL.801_duplicate10,CMRI:8_pbsv.DEL.772_duplicate6,gnomAD-SV_v2.1_DEL_14_143684,CMRI:3_pbsv.DEL.1034_duplicate3,DDD:43155,DDD:43156,DDD:43158,dgv400e199,CMRI:8_pbsv.DEL.780_duplicate4,CMRI:0_pbsv.DEL.627_duplicate1,CMRI:0_pbsv.DEL.628_duplicate2,nsv514747,CMRI:2_pbsv.DEL.857_duplicate9,nsv514749,nsv514750,gnomAD-SV_v2.1_DEL_14_143696,gnomAD-SV_v2.1_DEL_14_143699,gnomAD-SV_v2.1_DEL_14_143700,CMRI:18_pbsv.DEL.794_duplicate4,gnomAD-SV_v2.1_DEL_14_143702,CMRI:4_pbsv.DEL.1026_duplicate9,DDD:43190,esv2669904,gnomAD-SV_v2.1_DEL_14_143711,1000g,esv3634919,DDD:43193,esv2421842,CMRI:8_pbsv.DEL.787_duplicate7,esv2661627,gnomAD-SV_v2.1_DEL_14_143715,CMRI:14_pbsv.DEL.803_duplicate8,CMRI:30_pbsv.DEL.1150_duplicate7,DDD:43195,gnomAD-SV_v2.1_DEL_14_143720,CMRI:38_pbsv.DEL.637_duplicate7,DDD:43203,1000g,esv3634931,DDD:43205,1000g,esv3634933,gnomAD-SV_v2.1_DEL_14_143760,DDD:43211,CMRI:4_pbsv.DEL.1033_duplicate7,gnomAD-SV_v2.1_DEL_14_143788,gnomAD-SV_v2.1_DEL_14_143806,CMRI:184_pbsv.DEL.625_duplicate4,CMRI:4_pbsv.DEL.1042_duplicate6,CMRI:7_pbsv.DEL.741_duplicate7,CMRI:1_pbsv.DEL.652_duplicate8,DDD:43221,gnomAD-SV_v2.1_DEL_14_143811,1000g,esv3634953,DDD:43224,CMRI:85_pbsv.DEL.690_duplicate7,CMRI:48_pbsv.DEL.817_duplicate7,gnomAD-SV_v2.1_DEL_14_143826,esv2663366,CMRI:4_pbsv.DEL.1047_duplicate8,DDD:43227,DDD:43231,dgv403e199,1000g,esv3634962,CMRI:22_pbsv.DEL.861_duplicate8,DDD:43234,esv2677961,1000g,esv3634964,DDD:43238,gnomAD-SV_v2.1_DEL_14_143848,gnomAD-SV_v2.1_DEL_14_143849,DDD:43240,1000g,1000g,gnomAD-SV_v2.1_DEL_14_143864,DDD:43241,esv2659565,1000g,gnomAD-SV_v2.1_DEL_14_143879,DDD:43242,gnomAD-SV_v2.1_DEL_14_143893,CMRI:2_pbsv.DEL.890_duplicate7,CMRI:1_pbsv.DEL.669_duplicate6,gnomAD-SV_v2.1_DEL_14_143895,1000g,esv3634981,CMRI:0_pbsv.DEL.669_duplicate2,CMRI:0_pbsv.DEL.670_duplicate2,1000g,esv2668696,gnomAD-SV_v2.1_DEL_14_143901,CMRI:6_pbsv.DEL.1055_duplicate9,1000g,esv3634985,DDD:43244,esv2664069,gnomAD-SV_v2.1_DEL_14_143909,CMRI:62_pbsv.DEL.832_duplicate7,DDD:43246,CMRI:69_pbsv.DEL.966_duplicate8,1000g,CMRI:0_pbsv.DEL.677_duplicate3,1000g,gnomAD-SV_v2.1_DEL_14_143919,CMRI:0_pbsv.DEL.680_duplicate2,gnomAD-SV_v2.1_DEL_14_143921,CMRI:8_pbsv.DEL.834_duplicate4,1000g,gnomAD-SV_v2.1_DEL_14_143930,CMRI:1_pbsv.DEL.680_duplicate4,DDD:43249,1000g,DDD:43250,esv2673028,1000g,esv3634996,gnomAD-SV_v2.1_DEL_14_143938,dgv404e199,CMRI:1_pbsv.DEL.685_duplicate3,CMRI:69_pbsv.DEL.987_duplicate5,CMRI:69_pbsv.DEL.988_duplicate7,gnomAD-SV_v2.1_DEL_14_143949,CMRI:0_pbsv.DEL.692_duplicate1,CMRI:1_pbsv.DEL.686_duplicate5,CMRI:11_pbsv.DEL.1216_duplicate5,CMRI:0_pbsv.DEL.693,CMRI:0_pbsv.DEL.694_duplicate2,CMRI:3_pbsv.DEL.1106_duplicate2,DDD:43255,gnomAD-SV_v2.1_DEL_14_143972,gnomAD-SV_v2.1_DEL_14_143973,1000g,esv2664508,CMRI:0_pbsv.DEL.701,DDD:43258,esv2677599,1000g,esv3635015,gnomAD-SV_v2.1_DEL_14_143991,CMRI:3_pbsv.DEL.1117_duplicate7,gnomAD-SV_v2.1_DEL_14_144011,gnomAD-SV_v2.1_DEL_14_144015,CMRI:11_pbsv.DEL.1242_duplicate1,gnomAD-SV_v2.1_DEL_14_144020,CMRI:0_pbsv.DEL.711_duplicate2,gnomAD-SV_v2.1_DEL_14_144030,gnomAD-SV_v2.1_DEL_14_144034,CMRI:86_pbsv.DEL.831_duplicate3,1000g,gnomAD-SV_v2.1_DEL_14_144035,DDD:43269,esv2421742,CMRI:62_pbsv.DEL.874_duplicate7,1000g,gnomAD-SV_v2.1_DEL_14_144045,CMRI:4_pbsv.DEL.1114_duplicate5,gnomAD-SV_v2.1_DEL_14_144054,CMRI:2_pbsv.DEL.938_duplicate3,gnomAD-SV_v2.1_DEL_14_144062,CMRI:0_pbsv.DEL.715,DDD:43276,esv2661212,gnomAD-SV_v2.1_DEL_14_144071,1000g,esv3635039,CMRI:295_pbsv.DEL.995_duplicate7,1000g,gnomAD-SV_v2.1_DEL_14_144072,CMRI:0_pbsv.DEL.720_duplicate1,DDD:43279,1000g,gnomAD-SV_v2.1_DEL_14_144089,CMRI:12_pbsv.DEL.899_duplicate7,DDD:43280,esv2666514,gnomAD-SV_v2.1_DEL_14_144092,1000g,esv3635048,CMRI:213_pbsv.DEL.1087_duplicate5,dgv650e212,DDD:43123,1000g,esv3634871,gnomAD-SV_v2.1_DEL_14_143559,CMRI:5_pbsv.DEL.700_duplicate5,gnomAD-SV_v2.1_DEL_14_143600,dgv654e212,dgv401e199,DDD:43161,1000g,esv3634909,DDD:43163,esv2421969,DDD:43165,dgv660e212,dgv661e212,esv2672436,1000g,esv3634910,gnomAD-SV_v2.1_DEL_14_143695,DDD:43178,CMRI:3_pbsv.DEL.1043_duplicate5,DDD:43228,esv2422026,1000g,gnomAD-SV_v2.1_DEL_14_144018,1000g,esv3635036,DDD:43270,gnomAD-SV_v2.1_DEL_14_144046,dgv665e212,dgv666e212,DDD:43147,esv2658707,gnomAD-SV_v2.1_DEL_14_143662,1000g,esv3634899,CMRI:31_pbsv.DEL.776_duplicate6,gnomAD-SV_v2.1_DEL_14_143986,1000g,CMRI:0_pbsv.DEL.702_duplicate2|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;po_B_loss_someG_coord=14:70016988-70022487,14:70016988-70022487,14:70016992-70022486,14:70016992-70022486,14:70016995-70022486,14:70017837-70022467,14:70018047-70022944,14:70018383-70022487,14:70016992-70022486,14:70280330-70282536,14:70391534-70391676,14:70391719-70391803,14:70572605-70574880,14:70658731-70658781,14:70687829-70689462,14:70687829-70689462,14:70687832-70689453,14:70687832-70689453,14:70687833-70689453,14:70690052-70690240,14:70690067-70690240,14:70687832-70689453,14:70690052-70690240,14:70706016-70709887,14:70706107-70710040,14:70798458-70798537,14:70798459-70798535,14:70891144-70891221,14:70891171-70891410,14:70891417-70891672,14:70891444-70891564,14:70891464-70891557,14:70891573-70891865,14:70891600-70891865,14:70891718-70891875,14:70891762-70891865,14:71019347-71019957,14:71078619-71078779,14:71078598-71078732,14:71117274-71118069,14:71292087-71292180,14:71292118-71292180,14:71292148-71292254,14:71320960-71321253,14:71320977-71321253,14:71320960-71321253,14:71437835-71438160,14:71437827-71438160,14:71502197-71502345,14:71535339-71535556,14:71535352-71535556,14:71535352-71535556,14:71634700-71634794,14:71643887-71645134,14:71634676-71634794,14:71689957-71690264,14:71689974-71690582,14:71689957-71690264,14:72005332-72005432,14:72210461-72212272,14:72317022-72317658,14:72391541-72392435,14:72490793-72490843,14:72490793-72490843,14:72865131-72866381,14:73332948-73333810,14:73332948-73333810,14:73332951-73333806,14:73332951-73333806,14:73332952-73333806,14:73332951-73333806,14:73425739-73425813,14:73489959-73490013,14:73501871-73502798,14:73545763-73546924,14:73545763-73546924,14:73545767-73546935,14:73545767-73546935,14:73545769-73546946,14:73545764-73546921,14:73552002-73552263,14:73552024-73552167,14:73650601-73650926,14:73651043-73651170,14:73651084-73651170,14:73703577-73703637,14:73819161-73819219,14:73819161-73819219,14:73884611-73885278,14:73895841-73900576,14:73950793-73953347,14:73953709-73954085,14:73953709-73954008,14:73982373-73982849,14:73982598-73983073,14:74002703-74003063,14:73995766-73996079,14:74010063-74012567,14:74023231-74024207,14:74025099-74032600,14:74042667-74052884,14:74046806-74047836,14:74045487-74045617,14:74084821-74085335,14:74085026-74085335,14:74239794-74246936,14:74239794-74246936,14:74239794-74246936,14:74239803-74246948,14:74239803-74246948,14:74240280-74245623,14:74241688-74245607,14:74239794-74246936,14:74288219-74288402,14:74288220-74288613,14:74288220-74288378,14:74301601-74301653,14:74323881-74327880,14:74377488-74377634,14:74456047-74456183,14:74517730-74519131,14:74517811-74519238,14:74517811-74519238,14:74545333-74546052,14:74545334-74546055,14:74545334-74546055,14:74772859-74773559,14:74831810-74833382,14:74852495-74852618,14:75093743-75093864,14:75403463-75403571,14:75461443-75461923,14:75461703-75462023,14:75461863-75462023,14:75461930-75462250,14:75520938-75525519,14:75520940-75525519,14:75520941-75525519,14:75520941-75525519,14:75521134-75522351,14:75520938-75525519,14:75581759-75581817,14:75658879-75659370,14:75658931-75659370,14:75658931-75659369,14:75661900-75664470,14:75784555-75785913,14:75784555-75785985,14:75784619-75785979,14:75784619-75785979,14:75824454-75824544,14:75874438-75875278,14:75874438-75875278,14:75874535-75875372,14:75874535-75875372,14:75894566-75895179,14:76091260-76091425,14:76091523-76093716,14:76091529-76093716,14:76091548-76093711,14:76313059-76314913,14:76313063-76314916,14:76313064-76314916,14:76390387-76392514,14:76390428-76392548,14:76465590-76466164,14:76538156-76539524,14:76778310-76778382,14:76778311-76778381,14:76798913-76798975,14:76813773-76814208,14:76813775-76814213,14:76813775-76814213,14:76813773-76814208,14:76824669-76824733,14:76898946-76899173,14:76898946-76899173,14:76898948-76899266,14:76898946-76899173,14:76997952-76999386,14:76997952-76999386,14:76997954-76999158,14:76997954-76999158,14:76997956-76999158,14:76997954-76999158,14:77007569-77007628,14:77005235-77005286,14:77193681-77193739,14:77193681-77193739,14:77274778-77274870,14:77274778-77274870,14:77274778-77274870,14:77290095-77290561,14:77288078-77288430,14:77372701-77372762,14:77372703-77372762,14:77372701-77372762,14:77434253-77435333,14:77434258-77435339,14:77443696-77445735,14:77443696-77445735,14:77443719-77445735,14:77443719-77445735,14:77443733-77445735,14:77686645-77688642,14:77687265-77687638,14:77687434-77687662,14:77687469-77687541,14:77701766-77702394,14:77701824-77702079,14:77701852-77702054,14:77702201-77702378,14:77702499-77702784,14:77736012-77736072,14:77736069-77736141,14:77815467-77817616,14:78043527-78043939,14:78124954-78125062,14:78124955-78125062,14:78124955-78125062,14:78124955-78125062,14:78295158-78297076,14:78295158-78297076,14:78295158-78297081,14:78295158-78297081,14:78295164-78297076,14:78295169-78297076,14:78617462-78617647,14:78720222-78720520,14:78781219-78781269,14:78828244-78828597,14:78828233-78828584,14:79035872-79036146,14:79128368-79128429,14:79128367-79128429,14:79159136-79165654,14:79159148-79165643,14:79159675-79165204,14:79160946-79165608,14:79159143-79165643,14:79346292-79346604,14:79346299-79346604,14:79346292-79346604,14:79393079-79393332,14:79393172-79393288,14:79472130-79472491,14:79486499-79486569,14:79554290-79554894,14:79554290-79554894,14:79554295-79554894,14:79554299-79554923,14:79554299-79554923,14:79554290-79554894,14:79653926-79654025,14:79653941-79654025,14:79653926-79654025,14:79747399-79748027,14:79953950-79954051,14:79953950-79954051,14:79953950-79954051,14:79981186-79981991,14:79981186-79981991,14:79981188-79981991,14:79981189-79981994,14:79981189-79981994,14:79981186-79981991,14:70012571-70032710,14:71450268-71451351,14:71450305-71451348,14:71450305-71451348,14:71450309-71451339,14:71450268-71451351,14:72285966-72288394,14:73995761-74031034,14:73996445-74025592,14:73997051-74024450,14:73997195-74024603,14:73997195-74024603,14:73998503-74050492,14:73998976-74028117,14:74001123-74020979,14:74006838-74024031,14:74006838-74031034,14:74006970-74038879,14:74011083-74024007,14:74011083-74024007,14:74019699-74051250,14:74022141-74045835,14:74000312-74028320,14:75692526-75694134,14:78786339-78791625,14:78787235-78791738,14:78787311-78791811,14:79347302-79349275,14:79347302-79349275,14:79347331-79349296,14:79347367-79349288,14:79891140-79910013,14:79898781-79910013,14:73526841-73531932,14:73526841-73531932,14:73526843-73531904,14:73526847-73531965,14:73526847-73531965,14:73526841-73531932,14:78247889-78250155,14:78249852-78250190,14:78249852-78250190|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;TAD_coordinate=14:70000001-71080000,14:70000001-71480000,14:70000001-71520000,14:70000001-71560000,14:70040001-71560000,14:70080001-71520000,14:70080001-71560000,14:70160001-70640000,14:70160001-71520000,14:70160001-71600000,14:70200001-71520000,14:70240001-71560000,14:70360001-70520000,14:70480001-71560000,14:70600001-71600000,14:70960001-71520000,14:71040001-71560000,14:71440001-72360000,14:71480001-106040000,14:71480001-72280000,14:71480001-72320000|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ENCODE_experiment=ENCFF032FMN:ENCFF066NYU:ENCFF075QYD:ENCFF136AUY:ENCFF248DGB:ENCFF274VJU:ENCFF306YQN:ENCFF310FEU:ENCFF336WPU:ENCFF373MCF:ENCFF437EBV:ENCFF444XGA:ENCFF451MCF:ENCFF471EYL:ENCFF477VVJ:ENCFF531PAV:ENCFF558RGV:ENCFF569KNS:ENCFF588KUZ:ENCFF633ORE:ENCFF654GDV|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;Cosmic_ID=1000834,1003099,1003100,1003101,1003102,1003103,1003104,1003105,1003106,1003107,1003108,1003109,1003110,1006083,100628,100629,100631,100632,100633,100634,100635,100636,1006450,1006476,1006717,1006718,1006719,1007410,1009407,1009408,1009409,1009410,1010834,1010835,1011546,1011547,1011548,1011549,1012293,1012294,1012304,1012307,1012313,1012577,1013354,1014468,1014469,1014470,1014471,10152,1015365,...|.|.|.|.|.|.|.|.|.|.|1306059,1328665,1567090,1716920,1962805,2377054,2455705,2478972,2892997,446319,447594,567259,761963,761964|.|.|985616|761947|.|.|.|.|.|146348,164997,2077756,955279,955936,960079,961032,973273|761928|.|422738,443133|.|520887,782362|174071,2164674,270715,289963,296552,300487,306053,331184,411734,419423,421504,492425,542420,590940,594445,696104,733786,740070,740071,761920,761921,761922,761923,761924,761925,761926,778649,850719,98147|.|1668238,2012330,2110872|.|1494293,242385,300503,379870,562237,590953,761945|442071|761930|.|.|114257,270727,464206|1012577,10732,20130,22507,31183,31184,335674,336732,344196,347527,355001,359110,396493,577270,761952|1017224,1059769,2453170,2724245,3066248,446318,607439,780292,789765,809432,829557,859401,878377,880574,883381,883816,886206,900006,915429,921541|1141378,118778,1331272,1605207,1760073,1827710,2015888,2270160,2339333,2558607,2611486,2668533,2920310,544839,562235,577265,706402,761940,761941|.|.|1053244,252435,297977,527044,761957|.|1059690,1063587,1071534,2885005,519670|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|761948|244512,461899,551613,551614,573224,791475,932581,950944|761890,761891|270707,718116,718117|110128,761927,821655|.|.|.|.|527036|.|.|.|.|1030568,1037539,1037541,1037545,1037546,1041469,1050255,1058846,1059477,1060807,1061123,1061468,1061742,1062088,1064959,1065602,1065603,1065955,1065956,1065957,1065958,1065959,1065960,1065961,1067397,1068612,1069334,1069335,106983,1070707,1073309,1073806,1073850,1073914,1074046,108754,1134991,1170049,1170236,1178493,118782,118783,118784,118785,1197378,1251527,1263415,1279143,1297521,1337410,1387954,...|411735,706398|1007410,1011547,10722,10723,13589,169782,2038353,209225,234428,23504,25403,270717,27385,27772,27968,308603,31182,335673,336731,344192,353980,353981,355814,359108,362163,365670,367197,367215,3688,369273,387208,387713,387728,387732,387739,387756,387940,577261,5945|108750,127234,175006,175007,177078,177079,213084,409169,459238,516362,52999,550220,551609,61961,65511,668479,706385,72892,73046,73051,740062,740063,740064,761895,761896,761897,761898,761899,761900,824443,829555,846710,87511,92891,94608|.|.|270739|.|706397|519668|127941,322062,355813,385226,410108,410308,410316,423342,428903,430113,442067,451099,453326,472641,485448,486665,542422,789022,789764,869825,9716|1071932,1117698,114249,1169566,1217095,129349,1426519,148318,1527429,1556225,1576870,1582504,1675288,1737753,1780870,1851955,1944241,2197492,2212990,2316289,2416040,2477726,2574586,2591387,270711,270712,270713,270714,2777926,2862652,2907803,2938540,2990669,3040884,342336,342337,377471,38141,422736,443131,456460,492423,497689,516364,542418,556853,590937,590938,67865,691566,69406,...|.|.|.|2388601,706390,706391,718119,718120,718121,761909,761910,761911|127233|1003100,100628,152832,270704,506933,506934,683801,718111,761886,850710,850711|761961,761962|270703,44189,473369,538964,706380,706381,706382,706383,718109,964908,982243|.|.|706405|1070706,136978,2396352,448138,761958,761959,94610,951559|.|.|.|.|.|761939|.|.|1172632,148322,188260,261564,261565,3081505,308606,379014,476473,495630,495631|.|136972,2030381,2353163,2510216,2639729,3069305,3090395,594451|706403|.|471864,761953,761954,761955|.|.|740077|.|.|.|.;Cosmic_mut_typ=gain,loss|.|.|.|.|.|.|.|.|.|.|loss|.|.|loss|loss|.|.|.|.|.|gain,loss|loss|.|gain,loss|.|loss|gain,loss|.|loss|.|gain,loss|loss|loss|.|.|gain|gain,loss|gain,loss|gain,loss|.|.|loss|.|gain|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|loss|gain,loss|gain,loss|loss|loss|.|.|.|.|gain|.|.|.|.|gain,loss|loss|gain,loss|gain,loss|.|.|loss|.|loss|loss|loss|gain,loss|.|.|.|gain,loss|gain|gain,loss|loss|gain,loss|.|.|loss|loss|.|.|.|.|.|loss|.|.|gain,loss|.|gain,loss|loss|.|loss|.|.|gain|.|.|.|.;GC_content_left=0.575|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;GC_content_right=0.340|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;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=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|30.0|.|.|.|.|30.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|30.0|.|.|.|.|.|.|.|.|.|.|.|.|30.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|30.0|.|.|.|.|.|.|.|.|.|.;TS=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|0.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|0.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|0.0|.|.|.|.|.|.|.|.|.|.;DDD_HI_percent=.|36.57|79.11|80.08|71.55|51.07|42.69|96.3|.|80.97|.|44.0|15.98|20.3|45.95|32.41|18.38|46.22|.|87.32|88.69|55.54|42.22|52.1|62.35|19.53|20.13|8.26|14.74|32.32|.|10.39|68.31|9.68|46.63|0.08|28.84|43.89|85.75|67.39|48.88|53.42|80.75|36.26|10.81|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|90.26|38.39|37.92|11.46|.|.|.|.|.|40.57|9.62|38.85|81.08|61.93|0.35|3.89|77.52|.|24.37|55.64|44.09|75.78|2.84|36.39|6.67|12.13|.|67.04|82.32|27.41|52.47|14.66|63.53|20.73|.|.|2.41|35.71|11.4|37.17|58.84|40.89|.|1.85|13.76|38.62|89.01|57.05|12.66|53.81|.|32.92|63.0|4.64|23.71|77.29|27.62|25.68|24.64;ExAC_delZ=1.34019381391993|-0.147426224477032|.|.|.|-1.81959999668665|-0.0494932912597736|0.495518426170009|.|0.20475195149321|.|-0.867009229366138|0.732976125480584|-0.594807744675338|0.746429049758428|0.672981395561102|1.13836860138369|0.164888793006033|.|0.359375763796059|.|.|-0.907002085455659|0.67248390504556|0.0328501618680357|1.00245962700156|0.541238746599277|0.155672733489958|0.850729444567555|-0.488594290299698|.|0.483167198248291|-0.0512259833774175|0.83494407315702|-0.0644461299556054|0.308968786447975|-0.940802731404707|0.0881890230317652|.|1.11634766636416|.|0.190818708624784|0.585529744079814|.|0.0327433657468035|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|0.790122841592078|0.660548268015451|0.744381089035722|.|.|.|.|.|-1.12555329436251|0.570970173264078|0.286742282489637|0.634540958841633|0.957513964383517|-0.137168424328803|0.246047460951414|0.516577716994065|.|0.357894397457958|.|0.540107846236359|0.282778245905117|1.0185366596468|-0.0228887156505648|0.634816826420906|0.6587091506875|.|0.556474608871798|0.334670160476431|1.13118666514955|0.489210367440648|0.355320875175924|0.180150507139102|0.0672727142775138|.|.|0.737343387648993|-0.418770099389015|1.00729556581101|.|0.392489730766439|1.34019381391993|.|0.909872725898063|0.87243700309763|.|1.10572884352097|0.470595292462659|-0.141689852298476|0.485257385571689|.|1.16045566196026|-0.0498471740008769|-0.315484605876191|0.688480444603896|.|.|0.902539439559623|0.948237765707313;ExAC_dupZ=1.39874893285281|0.476490744074226|.|.|.|0.867898422481968|0.805586887995709|0.164612088074981|.|-0.0375029213098577|.|0.452395101090505|1.01946181631609|0.402270173616858|-1.76744428776915|0.982235268338659|0.981560654678983|0.618603701309482|.|0.425732660263379|.|.|0.761162731204338|0.303002428306769|-1.20947570004229|1.25655097997171|0.476321039064807|-0.255244582610795|0.82012249516542|0.761987299575362|.|0.465054797237248|0.816093339053779|0.377229420281904|0.191942065004028|0.315957477759131|-0.396095564594691|-0.500409125109291|.|1.31471495727423|.|0.269369034183219|0.525787167001403|.|0.509872774682437|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|-0.286649828123776|0.607135221159154|-0.229536912782362|.|.|.|.|.|-0.0554922849769027|0.969613617823035|0.343243631508295|0.554071348152211|0.491969202135042|-0.063523062335606|1.02306632714211|0.369817880412|.|0.779981555135367|.|0.0935217225315293|0.269970064120391|1.21178966962037|-2.53125239294469|-0.345986599496499|0.332273506101296|.|0.92535736368446|0.61348569748565|0.627307457242762|0.827066531535877|0.336337875773061|-1.92583349088253|0.906701827696088|.|.|-1.49156556895358|0.213696331878645|-0.0426867455570313|.|0.756039052695093|0.527851093160552|.|1.1526790216421|1.10509620491221|.|1.35022175394265|0.431359781161758|0.505134015305041|0.847143359756445|.|1.39874893285281|0.190583210484862|0.276347157933475|0.673129128642402|.|.|-1.2138353167389|-2.53125239294469;ExAC_cnvZ=1.56253047307147|0.28043140234215|.|.|.|-0.386945212496644|0.622721495628722|0.387441389382174|.|0.131596166282583|.|-0.0797112057031886|1.1906280812442|0.0318158281575253|-1.16708910790183|1.1316214706031|1.27234469493462|0.651564572100095|.|0.498168338329515|.|.|0.0778870202445991|0.535900173674906|-0.799697540269651|1.46223133177501|0.676251126219625|-0.107993441989811|0.962943873314858|0.298743793306655|.|0.626487948575119|0.559488987489855|0.686912610139262|0.135946333998704|0.450395834849993|-0.610309086279777|-0.321816709093925|.|1.545876826766|.|0.359867778115311|0.713017045546051|.|0.435166836702408|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|0.0604986310469142|0.805720615141758|0.144401531059245|.|.|.|.|.|-0.472960406122319|0.974479411771199|0.455362924247466|0.767344058617568|0.801808567175842|-0.0509871784629405|0.893320300946282|0.475644551772747|.|0.843662878197819|.|0.294393371080422|0.416797967037285|1.44507791211418|-1.89466140838915|0.0094786224550264|0.52900912263608|.|1.03282956475333|0.731605231089005|0.970270402207602|0.94947875708377|0.491100799564352|-1.4005333683386|0.665824407799033|.|.|-0.870956122667064|-0.0011352933273203|0.382354764838502|.|0.84635677768295|0.924804320987317|.|1.34944175367822|1.30729934392493|.|1.56253047307147|0.61335239670861|0.308645611515326|0.953052170149053|.|1.51363338423393|0.220065732683757|0.104968972752133|0.866969823347578|.|.|-0.657451406563129|-1.75678994702446;ExAC_synZ=3.37520264020816|-0.577845308485629|2.96959666946894|3.37520264020816|1.37255229526476|-0.462857306390812|0.330839341579633|-1.48424373822184|.|1.35732339580136|.|0.0590599247991495|0.612719774638111|0.679099253127232|0.667665395727891|-0.699744262423537|-1.08487173937219|-0.164608983467316|.|0.801272031109404|.|.|0.427994003252043|-0.658177723507368|0.399702754406109|-0.0513497203763671|0.145058092722761|-0.2230870958401|0.34916413126075|-0.478777681629812|.|0.548923330929686|0.233839681230893|0.773126115557261|0.490630916260428|1.43769206835717|-0.613193282335727|-0.791678151974522|-0.328810289068687|-0.0296965073003598|0.136005021690289|0.657591765102146|0.113262918840939|-0.320814617363734|0.897473226784185|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|-0.0532306517698591|0.648751713067012|0.455761021418303|.|.|.|.|.|-0.802395462502009|0.756090066578876|0.284715429016319|0.379774726170667|-0.466202502178386|0.792456109218615|0.510100701865107|-0.313993330244269|.|0.128243008170477|0.83598483248403|-0.615152330828874|-0.780937104915044|-0.995729253582541|0.703091541175976|-0.947291158816302|-0.221579401747722|.|0.265537484417452|1.19708099082806|-0.517389405126235|-0.514990106852216|-0.523272226750873|0.637398479805565|0.611225393261024|.|.|0.247729502133753|-0.619996643183401|-1.28604172761971|.|-0.456889287631759|0.0072176592751834|.|-1.1996869915671|1.18522213399621|-0.20422074215925|-0.357850307274635|0.912946087643093|-0.690226616279441|0.53642108943652|.|1.52251952793113|-0.568575376349584|-0.236547687386323|0.0955160066522971|0.478292476356703|1.22595450365641|-0.252329978463981|-0.34215828352022;ExAC_misZ=4.87183171073112|0.720450618140515|4.05533207481267|2.67207858257416|0.545817370763715|0.262423808805014|-0.254721229489782|-1.50929749275528|.|1.39273109660871|.|-0.860162546843161|2.2832280466667|0.420903444422647|0.224768496705786|-0.21227059426441|1.8963908904989|1.55143543455447|.|0.1651787013854|.|.|0.853783255100211|-0.0328711246744934|0.638096344446217|0.308878659615005|0.621766905193259|1.24257415879052|1.59043249038643|-0.713652105363058|.|1.59371377925925|-1.46624710586272|-0.0386698455711974|0.788288324276476|1.56380128926419|0.915343243341114|-0.625180993923544|-0.503765753071617|-0.142718924086507|4.87183171073112|1.42624221421653|0.0080139163003381|1.12560627218954|1.13813886096399|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|0.296495814903444|1.40070698962859|0.536825239296597|.|.|.|.|.|-0.819166593178298|2.84586149518694|0.338517001973816|-0.0813653543245723|0.815976167557305|4.12618558650653|1.76002849904177|0.247069767931464|.|-0.271140060358443|0.743747982665046|-0.699828991930417|-0.934347077162365|1.698742506585|0.256586463353363|4.51210625081434|1.52937610753405|.|0.411971249765718|-0.627822075044196|2.29334011477605|-4.22978841801556|0.161781650604182|-0.377560638129832|0.862281882590135|.|.|3.27807083034276|2.28923808197024|1.9456945729958|.|0.637121995651228|0.223066317489462|.|2.17432576263351|2.51008218853171|0.231685298100129|1.8566369709277|1.3928842530487|-0.904529915023995|1.88421714360819|.|0.301524160660802|2.33820894104848|0.302362838754022|0.580875705968682|-0.370224907435464|1.20861603368802|2.89295581941934|1.30765883387078;GenCC_disease=.|methylmalonic_acidemia_with_homocystinuria,_type_cblJ|.|.|.|.|.|male_infertility|.|.|.|.|.|methylmalonate_semialdehyde_dehydrogenase_deficiency|.|.|.|.|.|.|.|.|familial_steroid-resistant_nephrotic_syndrome_with_sensorineural_deafness,schwannomatosis_1|.|.|hereditary_pheochromocytoma-paraganglioma,paragangliomas_7|primary_ciliary_dyskinesia,primary_ciliary_dyskinesia_16|.|leukoencephalopathy_with_vanishing_white_matter,ovarioleukodystrophy|.|.|autosomal_recessive_nonsyndromic_hearing_loss_35,hearing_loss,_autosomal_recessive,nonsyndromic_genetic_hearing_loss|.|.|Fowler_syndrome|Berardinelli-Seip_congenital_lipodystrophy|.|maleylacetoacetate_isomerase_deficiency|.|cranioectodermal_dysplasia,cranioectodermal_dysplasia_3|neurodevelopmental_disorder_with_regression,_abnormal_movements,_loss_of_speech,_and_seizures|multiple_mitochondrial_dysfunctions_syndrome_4|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|Weill-Marchesani_syndrome,Weill-Marchesani_syndrome_3,congenital_glaucoma,glaucoma_secondary_to_spherophakia/ectopia_lentis_and_megalocornea,microspherophakia_and/or_megalocornea,_with_ectopia_lentis_and_with_or_without_secondary_glaucoma|.|.|.|.|.|.|.|colorectal_cancer,_hereditary_nonpolyposis,_type_7,hereditary_nonpolyposis_colon_cancer|NEK9-related_lethal_skeletal_dysplasia|.|.|Niemann-Pick_disease_type_C,_adult_neurologic_onset,Niemann-Pick_disease_type_C,_juvenile_neurologic_onset,Niemann-Pick_disease_type_C,_late_infantile_neurologic_onset,Niemann-Pick_disease_type_C,_severe_early_infantile_neurologic_onset,Niemann-Pick_disease_type_C,_severe_perinatal_form,Niemann-Pick_disease,_type_C2|autism_susceptibility_1|.|.|.|.|.|autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N,congenital_muscular_dystrophy_with_cerebellar_involvement,congenital_muscular_dystrophy_with_intellectual_disability,muscle-eye-brain_disease,muscular_dystrophy-dystroglycanopathy,muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2,muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2,muscular_dystrophy-dystroglycanopathy,_type_A|.|Alzheimer_disease_3,Pick_disease,behavioral_variant_of_frontotemporal_dementia,dilated_cardiomyopathy,early-onset_autosomal_dominant_Alzheimer_disease,familial_isolated_dilated_cardiomyopathy,semantic_dementia|.|.|.|.|.|.|.|hypercholanemia,_familial,_2|.|.|microphthalmia_with_limb_anomalies|.|.|.|hereditary_sensory_and_autonomic_neuropathy_type_1,neuropathy,_hereditary_sensory_and_autonomic,_type_1C|.|.|.|.|.|Loeys-Dietz_syndrome,Rienhoff_syndrome,arrhythmogenic_right_ventricular_cardiomyopathy,arrhythmogenic_right_ventricular_dysplasia_1,familial_thoracic_aortic_aneurysm_and_aortic_dissection|.|.|.|.|cone-rod_dystrophy,cone-rod_dystrophy_19|.|.|arthrogryposis,_renal_dysfunction,_and_cholestasis_2,arthrogryposis-renal_dysfunction-cholestasis_syndrome|.|isolated_anophthalmia-microphthalmia_syndrome,isolated_microphthalmia_2,microphthalmia,microphthalmia,_isolated,_with_coloboma,microphthalmia,_isolated,_with_coloboma_3|.|.|.|.|.;GenCC_moi=.|AR|.|.|.|.|.|AD|.|.|.|.|.|AR|.|.|.|.|.|.|.|.|AD,AR|.|.|AD|AD,AR|.|AR|.|.|AR|.|.|AR|AR|.|AR|.|AR|AD|AR|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|AD,AR|.|.|.|.|.|.|.|AD|AR|.|.|AR|AD|.|.|.|.|.|AR|.|AD|.|.|.|.|.|.|.|AR|.|.|AR|.|.|.|AD|.|.|.|.|.|AD,AR|.|.|.|.|AD,AR|.|.|AR|.|AD,AR|.|.|.|.|.;GenCC_classification=.|Strong,Supportive|.|.|.|.|.|Limited|.|.|.|.|.|Limited,Moderate,Strong,Supportive|.|.|.|.|.|.|.|.|Limited,Moderate,Strong,Supportive|.|.|Limited,Supportive|Moderate,Strong,Supportive|.|Definitive,Strong,Supportive|.|.|Definitive,Strong,Supportive|.|.|Definitive,Moderate,Strong,Supportive|Supportive|.|Moderate|.|Definitive,Supportive|Moderate,Strong|Moderate,Strong,Supportive|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|Definitive,Moderate,Supportive|.|.|.|.|.|.|.|Moderate|Supportive|.|.|Definitive,Strong,Supportive|Limited|.|.|.|.|.|Definitive,Moderate,Strong,Supportive|.|Disputed_Evidence,Strong,Supportive|.|.|.|.|.|.|.|Limited|.|.|Definitive,Strong,Supportive|.|.|.|Strong,Supportive|.|.|.|.|.|Definitive,Limited,Moderate,Strong,Supportive|.|.|.|.|Moderate,Strong,Supportive|.|.|Definitive,Strong,Supportive|.|Definitive,Strong,Supportive|.|.|.|.|.;GenCC_pmid=.|22922874,22922874[PMID]|.|.|.|.|.|.|.|.|.|.|.|10947204,21863277[PMID]_10971205[PMID],23835272|.|.|.|.|.|.|.|.|21540551,21540551[PMID],24140869,25126048|.|.|31051110[PMID]|20301301[PMID],21496787,30300419,31213628|.|11704758,12707859,14566705,14993275,15054402,15136673,16807905,20301435,20301435[PMID]_15136673[PMID],20826436,21484434,21560189,22992991,30720246|.|.|1817989,18179891,20301607[PMID]_24148127[PMID],21802533,22567352,22951369,23767834,23967202,25023176,25342930,26166082,26226137,27610647,29048421,29636544,30245029,30622556,31389194,32681043,9285590|.|.|19635601,20206334,20206334[PMID],20518025,20690116,25677735|23919306[PMID]|.|.|.|21378380,22791528[PMID]_24027799[PMID]|30057031,30166628|25539947,25539947[PMID],25558065|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|19361779,19361779[PMID],19656777,20179738,20179738[PMID]_22025892[PMID],20301293[PMID]_22539340[PMID],20617341,22025892|.|.|.|.|.|.|.|.|26908619[PMID]|.|.|11125141,11567215,12447927,17470133,20301473[PMID]|22209245|.|.|.|.|.|15894594,16701995,17634419,17878207,17923109,19138766,19299310,19299310[PMID]_17878207[PMID],19880378[PMID],20301582[PMID],21397493[PMID]|.|11094121[PMID],17186461[PMID]_20301486[PMID],20301414[PMID]|.|.|.|.|.|.|.|24867799,25193235,28249272,28283843,29290974,30377382,30525015,31661128,33093374|.|.|19208380,21194678,21194680,21750680,30445150,NULL|.|.|.|20920666,20920666[PMID],25567748,28902413,30955194|.|.|.|.|.|23824657[PMID]_25835445[PMID],24798638,25835445,30071989|.|.|.|.|24791901,24791901[PMID]|.|.|20190753,22753090,25239142[PMID]|.|10932181[PMID],15257456,15257456[PMID],17661825,24033328,27301076,28121235,31884615|.|.|.|.|.;OMIM_ID=603214,603178,614647,618064,126063,610062,606454,602167,610865,603758,614068,611720,615317,602090,602091,604395,609798,601015,607439,104311,182396,608488,605713,190230,619953,612268,613401,142993|603214|.|.|.|.|.|.|.|.|.|.|.|603178|.|.|.|.|.|.|.|.|614647|618064|.|126063|610062|.|606454|.|.|602167|.|.|610865|.|.|603758|.|614068|611720|615317|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|602090,602091|.|.|.|.|.|.|.|604395|609798|.|.|601015|.|.|.|.|.|.|607439|.|104311|.|.|.|.|.|.|.|182396|.|.|608488|.|.|.|605713|.|.|.|.|.|190230|.|.|619953|.|612268|.|.|613401|.|142993|.|.|.|.|.;OMIM_phenotype=.|Methylmalonic_aciduria_and_homocystinuria,_cblJ_type,_614857_(3)_AR|.|.|.|.|.|.|.|.|.|.|.|Methylmalonate_semialdehyde_dehydrogenase_deficiency,_614105_(3)_AR|.|.|.|.|.|.|.|.|Coenzyme_Q10_deficiency,_primary,_6,_614650_(3)_AR|Mitochondrial_complex_IV_deficiency,_nuclear_type_22,_619355_(3)_AR|.|Paragangliomas_7,_618475_(3)_AD|Ciliary_dyskinesia,_primary,_16,_614017_(3)_AR|.|Leukoencephalopathy_with_vanishing_white_matter,_603896_(3)_AR,Ovarioleukodystrophy,_603896_(3)_AR|.|.|Deafness,_AR_35,_608565_(3)_AR|.|.|Proliferative_vasculopathy_and_hydranencephaly-hydrocephaly_syndrome,_225790_(3)_AR|.|.|[Maleylacetoacetate_isomerase_deficiency],_617596_(3)_AR|.|?Cranioectodermal_dysplasia_3,_614099_(3)_AR,?Retinitis_pigmentosa_81,_617871_(3)_AR,Short-rib_thoracic_dysplasia_18_with_polydactyly,_617866_(3)_AR|Neurodevelopmental_disorder_with_regression,_abnormal_movements,_loss_of_speech,_and_seizures,_618088_(3)_AD|Multiple_mitochondrial_dysfunctions_syndrome_4,_616370_(3)_AR|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|?Weill-Marchesani_syndrome_3,_recessive,_614819_(3)_AR,Dental_anomalies_and_short_stature,_601216_(3)_AR,Geleophysic_dysplasia_3,_617809_(3)_AD,Glaucoma_3,_primary_congenital,_D,_613086_(3),Microspherophakia_and/or_megalocornea,_with_ectopia_lentis_and_with_or_without_secondary_glaucoma,_251750_(3)_AR|.|.|.|.|.|.|.|Colorectal_cancer,_hereditary_nonpolyposis,_type_7,_614385_(3),Colorectal_cancer,_somatic,_114500_(3),(Endometrial_cancer,_susceptibility_to),_608089_(3)_Somatic_mutation,AD|?Arthrogryposis,_Perthes_disease,_and_upward_gaze_palsy,_614262_(3)_AR,Lethal_congenital_contracture_syndrome_10,_617022_(3)_AR,Nevus_comedonicus,_somatic,_617025_(3)|.|.|Niemann-pick_disease,_type_C2,_607625_(3)_AR|.|.|.|.|.|.|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_2,_613150_(3)_AR,Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation),_type_B,_2,_613156_(3)_AR,Muscular_dystrophy-dystroglycanopathy_(limb-girdle),_type_C,_2,_613158_(3)_AR|.|?Acne_inversa,_familial,_3,_613737_(3)_AD,Alzheimer_disease,_type_3,_607822_(3)_AD,Alzheimer_disease,_type_3,_with_spastic_paraparesis_and_apraxia,_607822_(3)_AD,Alzheimer_disease,_type_3,_with_spastic_paraparesis_and_unusual_plaques,_607822_(3)_AD,Cardiomyopathy,_dilated,_1U,_613694_(3)_AD,Dementia,_frontotemporal,_600274_(3)_AD,Pick_disease,_172700_(3)_AD|.|.|.|.|.|.|.|Hypercholanemia,_familial_2,_619256_(3)_AR|.|.|Microphthalmia_with_limb_anomalies,_206920_(3)_AR|.|.|.|Neuropathy,_hereditary_sensory_and_autonomic,_type_IC,_613640_(3)_AD|.|.|.|.|.|Arrhythmogenic_right_ventricular_dysplasia_1,_107970_(3)_AD,Loeys-Dietz_syndrome_5,_615582_(3)_AD|.|.|Spastic_paraplegia_87,_AR,_619966_(3)_AR|.|Cone-rod_dystrophy_19,_615860_(3)_AR|.|.|Arthrogryposis,_renal_dysfunction,_and_cholestasis_2,_613404_(3)_AR|.|Microphthalmia_with_coloboma_3,_610092_(3),Microphthalmia,_isolated_2,_610093_(3)|.|.|.|.|.;OMIM_inheritance=.|AR|.|.|.|.|.|.|.|.|.|.|.|AR|.|.|.|.|.|.|.|.|AR|AR|.|AD|AR|.|AR|.|.|AR|.|.|AR|.|.|AR|.|AR|AD|AR|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|AD,AR|.|.|.|.|.|.|.|Somatic_mutation,AD|AR|.|.|AR|.|.|.|.|.|.|AR|.|AD|.|.|.|.|.|.|.|AR|.|.|AR|.|.|.|AD|.|.|.|.|.|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|.|.|.|.|.|yes|.|.|yes|.|yes|.|.|yes|.|yes|.|.|.|.|.;OMIM_morbid_candidate=yes|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|yes|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|yes|.|.|.|.|.|.|.|yes|yes|.|.|.|.|.|.|.|.|.|.|.|yes|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;LOEUF_bin=.|4.0|8.0|7.0|8.0|8.0|8.0|.|.|7.0|.|7.0|0.0|5.0|5.0|4.0|3.0|2.0|.|9.0|.|4.0|7.0|9.0|3.0|2.0|5.0|3.0|8.0|3.0|.|2.0|6.0|4.0|5.0|3.0|2.0|8.0|6.0|8.0|1.0|9.0|6.0|3.0|1.0|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|1.0|1.0|5.0|.|.|.|.|.|3.0|4.0|8.0|4.0|7.0|0.0|3.0|6.0|.|4.0|4.0|4.0|8.0|1.0|6.0|0.0|1.0|.|4.0|6.0|0.0|9.0|3.0|9.0|3.0|.|.|0.0|1.0|2.0|.|7.0|4.0|.|1.0|2.0|3.0|1.0|5.0|4.0|3.0|.|4.0|0.0|5.0|0.0|7.0|5.0|2.0|2.0;GnomAD_pLI=1.0|1.3364e-12|6.4141e-05|9.3287e-06|1.0412e-08|0.0035327|0.070318|.|.|3.5771e-12|.|9.4776e-15|0.99896|7.5619e-10|4.8961e-06|9.2452e-09|4.9149e-07|0.85462|.|0.00046544|.|0.057788|4.3324e-15|1.8748e-05|9.2807e-06|0.48474|0.0088801|0.020501|2.083e-10|4.554e-05|.|0.12609|1.0758e-13|0.024364|3.4299e-06|0.26176|0.0028216|5.5058e-11|1.3711e-29|1.8153e-11|0.83623|2.4343e-08|2.3337e-11|0.35921|0.91836|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|0.00074122|0.11764|6.5981e-05|.|.|.|.|.|4.9023e-08|8.2095e-18|0.0045474|0.024779|0.0017755|1.0|0.0039959|7.489499999999999e-38|.|0.1288|0.042869|9.4315e-12|5.5007e-12|0.97322|2.7131e-07|1.0|0.44191|.|1.2741e-07|1.2383e-10|1.0|4.7887e-16|0.00073391|9.7265e-07|0.0094673|.|.|0.99961|0.78035|0.69255|.|0.0087901|0.51218|.|0.98727|0.86011|0.085258|0.24344|0.06817|2.9217e-22|0.32566|.|7.2613e-10|0.98901|0.00016481|0.99965|1.8005e-09|0.054892|0.19867|0.35337;ExAC_pLI=1.0|1.3985e-08|0.035999|0.14229|4.2146e-08|0.0015239|0.223|1.797e-09|.|0.014673|.|4.2284e-09|0.93852|1.6223e-05|2.1315e-05|3.0559e-10|0.011802|0.7449|.|0.0085234|.|0.22603|2.3109e-07|0.03046|0.0036452|0.95039|0.0064015|0.82848|0.00042826|0.0001052|.|0.54208|9.8604e-11|0.93426|0.00036828|0.43571|0.53907|1.0685e-05|6.2323e-17|4.3784e-07|0.96894|6.2727e-05|1.2634e-05|0.85611|0.89197|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|0.018735|0.9234|0.014968|.|.|.|.|.|0.000425|1.192e-06|0.0025318|0.1185|0.0087007|0.99986|0.024399|5.1348e-22|.|0.8983|0.05931|0.00013041|7.8853e-07|0.9976|7.2025e-07|1.0|0.80136|.|0.00067428|2.3441e-06|1.0|8.4409e-16|0.62108|0.00036106|0.006004|.|.|0.99963|0.82059|0.33913|.|0.0036642|0.50394|.|0.92272|0.71815|0.084325|0.9885|0.058557|1.9799e-09|0.73061|.|0.00053494|0.85836|0.11608|0.99993|1.6219e-06|0.31848|0.95373|0.66171;AnnotSV_ranking_score=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;AnnotSV_ranking_criteria=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.;ACMG_class=.|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA|full=NA GT 1|0 ./. +15 34735949 . G . . AnnotSV_ID=15_34735949_34735950_DEL_1;SV_chrom=15;SV_start=34735949;SV_end=34735950;SV_length=-1.0;SV_type=DEL;Samples_ID=sample1;FORMAT=GT;sampleX=./.;sample1=0/1;Annotation_mode=full;CytoBand=q14;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125410,dbVar:nssv15145681,dbVar:nssv15147411,dbVar:nssv15149616,dbVar:nssv15150618,nssv15150717,dbVar:nssv15151655,dbVar:nssv15172190,dbVar:nssv15172447;po_P_gain_coord=15:20016811-102493540,15:20063340-102521392,15:20071673-102461162,15:20733395-102511616,15:22765628-38837526,15:22770422-102429112,15:31115047-102354857,15:32899499-35492630;po_P_gain_percent=0.00;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15127602,dbVar:nssv15127755,dbVar:nssv15146268,dbVar:nssv15146365,dbVar:nssv15147319,dbVar:nssv15148236,dbVar:nssv15154730,dbVar:nssv16208403,dbVar:nssv16208407,dbVar:nssv16208948;po_P_loss_coord=15:22698522-38381783,15:22770421-36861479,15:23622526-102521392,15:25279016-37496505,15:29209620-102521392,15:31675452-35689958,15:32446829-34868996,15:32618337-39686269,15:32928004-40526026,15:34197488-38656254;po_P_loss_percent=0.00;P_snvindel_nb=.;P_snvindel_phen=.;B_gain_source=1000g;B_gain_coord=15:34721236-34836826;B_gain_AFmax=0.0144;B_loss_source=1000g,DDD:44673,DDD:44674,HI40:ISCA-46481,HI40:ISCA-46482,dgv2562n100,dgv312n27,dgv313n27,dgv43e203,esv3636115,esv3892663,gnomAD-SV_v2.1_DEL_15_146738,gnomAD-SV_v2.1_DEL_15_146739,nsv517751;B_loss_coord=15:34647568-34871296,15:34674030-35008201,15:34674424-35009836,15:34678777-34862723,15:34710126-34856557,15:34710126-34856557,15:34714111-34830932,15:34718594-34800595,15:34718594-34807869,15:34718594-34871296,15:34721236-34836826,15:34721236-34836826,15:34726357-34872885,15:34726357-34872885;B_loss_AFmax=0.168;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=1000g;po_B_gain_someG_coord=15:34721236-34836826;po_B_loss_allG_source=.;po_B_loss_allG_coord=.;po_B_loss_someG_source=nsv517751,DDD:44673,DDD:44674,dgv43e203,HI40:ISCA-46481,gnomAD-SV_v2.1_DEL_15_146738,dgv2562n100,dgv312n27,esv3892663,dgv313n27,1000g,esv3636115,HI40:ISCA-46482,gnomAD-SV_v2.1_DEL_15_146739;po_B_loss_someG_coord=15:34647568-34871296,15:34674030-35008201,15:34674424-35009836,15:34678777-34862723,15:34710126-34856557,15:34710126-34856557,15:34714111-34830932,15:34718594-34800595,15:34718594-34807869,15:34718594-34871296,15:34721236-34836826,15:34721236-34836826,15:34726357-34872885,15:34726357-34872885;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.340;GC_content_right=0.345;Repeat_coord_left=.;Repeat_type_left=.;Repeat_coord_right=.;Repeat_type_right=.;Gap_left=.;Gap_right=.;SegDup_left=15:34730083-34776964;SegDup_right=15:34730083-34776964;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=.;OMIM_ID=.;OMIM_phenotype=.;OMIM_inheritance=.;OMIM_morbid=.;OMIM_morbid_candidate=.;LOEUF_bin=.;GnomAD_pLI=.;ExAC_pLI=.;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_and_OMIM_morbid,_+0.00),3A_(0_gene,_+0.00),5F_(+0.00);ACMG_class=1 GT ./. 0/1 +16 1565629 . C . . AnnotSV_ID=16_1565629_1565630_DUP_1|16_1565629_1565630_DUP_1;SV_chrom=16|16;SV_start=1565629|1565629;SV_end=1565630|1565630;SV_length=1.0|1.0;SV_type=DUP|DUP;Samples_ID=sample1|sample1;FORMAT=GT|GT;sampleX=./.|./.;sample1=0/1|0/1;Annotation_mode=full&split;CytoBand=p13.3|p13.3;Gene_name=IFT140|IFT140;Gene_count=1.0|.;Tx=.|NM_014714;Tx_start=.|1560427.0;Tx_end=.|1662073.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|31.0;Location=.|intron30-intron30;Location2=.|CDS;Dist_nearest_SS=.|2586.0;Nearest_SS_type=.|5';Intersect_start=.|1565629.0;Intersect_end=.|1565630.0;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=Cranioectodermal_dysplasia|Saldino-Mainzer_syndrome|Joubert_syndrome_with_Jeune_asphyxiating_thoracic_dystrophy|.;po_P_gain_hpo=.|.;po_P_gain_source=CLN:513805,dbVar:nssv15145754,dbVar:nssv15146792,dbVar:nssv15147067,dbVar:nssv15147068,dbVar:nssv15147069,dbVar:nssv15147071,dbVar:nssv15147425,dbVar:nssv15147790,dbVar:nssv15147959,dbVar:nssv15148094,dbVar:nssv15148669,dbVar:nssv15148703,dbVar:nssv15149503,dbVar:nssv15149904,dbVar:nssv15150639,nssv15151292,dbVar:nssv15150758,dbVar:nssv15152396,dbVar:nssv15154767,dbVar:nssv15155466,dbVar:nssv15158224,dbVar:nssv15158812,dbVar:nssv15158813,dbVar:nssv15606077,dbVar:nssv16254459,dbVar:nssv17649874,dbVar:nssv17955877,dbVar:nssv8639650|.;po_P_gain_coord=16:102839-28327676,16:109978-4316797,16:1271651-2283774,16:1328822-1969149,16:1505184-4415346,16:1561201-1573469,16:1565628-1571298,16:61451-90294632,16:69193-90274381,16:716662-15836961,16:73141-11390552,16:78801-9169448,16:79941-2610461,16:84485-5251013,16:85880-11209288,16:85880-19806921,16:85880-22442007,16:85880-3216551,16:85880-5249457,16:85880-9883129,16:85881-90155062,16:88165-90163275,16:88165-90274695,16:93732-13420663,16:96766-11619372,16:96766-3264623,16:96766-4297186,16:97133-5122974|.;po_P_gain_percent=0.00,0.01,0.02|.;po_P_loss_phen=Retinitis_pigmentosa_80,_617781_(3)_AR,Short-rib_thoracic_dysplasia_9_with_or_without_polydactyly,_266920_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15145815,dbVar:nssv15145816,dbVar:nssv15146945,dbVar:nssv15147164,dbVar:nssv15148018,dbVar:nssv15148829,dbVar:nssv15155465,dbVar:nssv15173022,dbVar:nssv15771714,dbVar:nssv15776300,dbVar:nssv16214651,dbVar:nssv16214818,morbid:IFT140|.;po_P_loss_coord=16:1203718-2185710,16:1560427-1662073,16:61451-1593645,16:624055-2115656,16:624055-2148005,16:73141-1762524,16:73141-1823350,16:85880-1875694,16:85880-2053328,16:88165-1715454,16:96722-1917328,16:96766-1594015,16:96766-2047583|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.520|.;GC_content_right=0.515|.;Repeat_coord_left=16:1565417-1565697,16:1565697-1565893|.;Repeat_type_left=AluJr,L1MEf|.;Repeat_coord_right=16:1565417-1565697,16:1565697-1565893|.;Repeat_type_right=AluJr,L1MEf|.;Gap_left=.|.;Gap_right=.|.;SegDup_left=.|.;SegDup_right=.|.;ENCODE_blacklist_left=.|.;ENCODE_blacklist_characteristics_left=.|.;ENCODE_blacklist_right=.|.;ENCODE_blacklist_characteristics_right=.|.;ACMG=.|.;HI=.|30.0;TS=.|.;DDD_HI_percent=69.24|69.24;ExAC_delZ=-1.52736818830718|-1.52736818830718;ExAC_dupZ=-0.448946429663129|-0.448946429663129;ExAC_cnvZ=-0.844654865976432|-0.844654865976432;ExAC_synZ=-0.922111894578121|-0.922111894578121;ExAC_misZ=-1.23259677674915|-1.23259677674915;GenCC_disease=.|Jeune_syndrome,Leber_congenital_amaurosis,retinitis_pigmentosa,short-rib_thoracic_dysplasia_9_with_or_without_polydactyly;GenCC_moi=.|AD,AR;GenCC_classification=.|Definitive,Supportive;GenCC_pmid=.|22503633,22503633[PMID],22503633[PMID]_23418020[PMID]_24009529[PMID],26216056[PMID];OMIM_ID=614620|614620;OMIM_phenotype=.|Retinitis_pigmentosa_80,_617781_(3)_AR,Short-rib_thoracic_dysplasia_9_with_or_without_polydactyly,_266920_(3)_AR;OMIM_inheritance=.|AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|4.0;GnomAD_pLI=9.914e-24|9.914e-24;ExAC_pLI=9.1377e-18|9.1377e-18;AnnotSV_ranking_score=0.0|.;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00),2B_(cf_po_P_gain_source,_TS,_OMIM_morbid+0.00),2I-3_(IFT140,_+0.00),3A_(1_gene,_+0.00),5F_(+0.00)|.;ACMG_class=3|full=3 GT ./. 0/1 +16 21935448 MantaDUP:TANDEM:188522:0:1:0:0:0 G 714 PASS AnnotSV_ID=16_21935448_21935449_DUP_TANDEM_1;SV_chrom=16;SV_start=21935448;SV_end=21935449;SV_length=1.0;SV_type=DUP:TANDEM;Samples_ID=sampleX;FORMAT=GT;sampleX=0/1;sample1=./.;Annotation_mode=full;CytoBand=p12.2;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15132158,dbVar:nssv15132161,dbVar:nssv15137711,dbVar:nssv15141610,dbVar:nssv15145716,dbVar:nssv15147962,dbVar:nssv15148703,dbVar:nssv15149904,dbVar:nssv15150639,nssv15151292,dbVar:nssv15152163,dbVar:nssv15152186,dbVar:nssv15158224,dbVar:nssv15158812,dbVar:nssv15158813,dbVar:nssv16207267,dbVar:nssv16216874,dbVar:nssv16254749,dbVar:nssv8639650;po_P_gain_coord=16:102839-28327676,16:15048751-28318164,16:18238275-30177240,16:19424115-30142220,16:21361943-29214158,16:21379628-29351826,16:21475060-29260900,16:21576802-29351826,16:21613504-29325694,16:2959279-30190593,16:4694893-29182141,16:5805001-34230001,16:61451-90294632,16:69193-90274381,16:85880-22442007,16:85881-90155062,16:88165-90163275,16:88165-90274695;po_P_gain_percent=0.00;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15120644,dbVar:nssv15142372,dbVar:nssv15152411,dbVar:nssv15154782,dbVar:nssv15154783,dbVar:nssv15154784,dbVar:nssv15154785,dbVar:nssv15154786,dbVar:nssv15173105,dbVar:nssv15173767,dbVar:nssv15605798,dbVar:nssv16208458,dbVar:nssv17955517,dbVar:nssv17955863,dbVar:nssv17955865,dbVar:nssv17955886,dbVar:nssv17955938,dbVar:nssv17956018,dbVar:nssv17956033,dbVar:nssv8639374;po_P_loss_coord=16:21379628-29379768,16:21530207-29332245,16:21576802-22431357,16:21594997-29625302,16:21596299-30399167,16:21612313-28334665,16:21623965-21968737,16:21747532-22824584,16:21751992-22546976,16:21769324-22435811,16:21769324-22552780,16:21771016-22409463,16:21781158-22825913,16:21801889-22431357,16:21801889-22442007,16:21817921-22710614,16:21841455-22710614,16:21869250-22524572,16:21884192-22288219,16:21931247-22710614;po_P_loss_percent=0.00;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.540;GC_content_right=0.545;Repeat_coord_left=16:21935340-21935360,16:21935360-21935664;Repeat_type_left=L2,AluSx3;Repeat_coord_right=16:21935340-21935360,16:21935360-21935664;Repeat_type_right=L2,AluSx3;Gap_left=.;Gap_right=.;SegDup_left=16:21839360-21943556,16:21841018-21943556,16:21888823-21938090,16:21896688-21938095,16:21896688-21938095;SegDup_right=16:21839360-21943556,16:21841018-21943556,16:21888823-21938090,16:21896688-21938095,16:21896688-21938095;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=.;OMIM_ID=.;OMIM_phenotype=.;OMIM_inheritance=.;OMIM_morbid=.;OMIM_morbid_candidate=.;LOEUF_bin=.;GnomAD_pLI=.;ExAC_pLI=.;AnnotSV_ranking_score=-0.6;AnnotSV_ranking_criteria=1B_(cf_Gene_count,_RE_gene,_-0.60),;ACMG_class=3 GT 0/1 ./. +16 25873306 MantaDEL:188858:1:1:0:0:0 CCATCCATCCATCCATCCTTCCTTCCTTCCTTTCATCCATCTATCCATCCATCCACCTAGCAAGCCATCCAGT C 284 SampleFT AnnotSV_ID=16_25873306_25873378_DEL_1|16_25873306_25873378_DEL_1;SV_chrom=16|16;SV_start=25873306|25873306;SV_end=25873378|25873378;SV_length=-72.0|-72.0;SV_type=DEL|DEL;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR:SR|GT:FT:GQ:PL:PR:SR;sampleX=1/1:MinGQ:3:334,3,0:5,0:8,12|1/1:MinGQ:3:334,3,0:5,0:8,12;sample1=./.|./.;Annotation_mode=full&split;CytoBand=p12.1|p12.1;Gene_name=HS3ST4|HS3ST4;Gene_count=1.0|.;Tx=.|NM_006040;Tx_start=.|25703279.0;Tx_end=.|26149006.0;Overlapped_tx_length=.|72.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|2.0;Location=.|intron1-intron1;Location2=.|CDS;Dist_nearest_SS=.|168834.0;Nearest_SS_type=.|5';Intersect_start=.|25873306.0;Intersect_end=.|25873378.0;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=dbVar:nssv15126545,dbVar:nssv15132158,dbVar:nssv15132161,dbVar:nssv15133581,dbVar:nssv15133639,dbVar:nssv15137443,dbVar:nssv15137711,dbVar:nssv15141610,dbVar:nssv15143194,dbVar:nssv15145716,dbVar:nssv15147962,dbVar:nssv15148703,dbVar:nssv15150639,nssv15151292,dbVar:nssv15152163,dbVar:nssv15152186,dbVar:nssv15158224,dbVar:nssv15158812,dbVar:nssv15158813,dbVar:nssv16207267,dbVar:nssv16216874,dbVar:nssv16254749,dbVar:nssv8639650|.;po_P_gain_coord=16:102839-28327676,16:15048751-28318164,16:18238275-30177240,16:19424115-30142220,16:21361943-29214158,16:21379628-29351826,16:21475060-29260900,16:21576802-29351826,16:21613504-29325694,16:22645706-29238644,16:22718350-28858721,16:23059290-30643566,16:23763368-31955076,16:24381953-33923059,16:2959279-30190593,16:4694893-29182141,16:5805001-34230001,16:61451-90294632,16:69193-90274381,16:85881-90155062,16:88165-90163275,16:88165-90274695|.;po_P_gain_percent=0.00|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15120644,dbVar:nssv15142372,dbVar:nssv15154782,dbVar:nssv17955517,dbVar:nssv17955938|.;po_P_loss_coord=16:21379628-29379768,16:21530207-29332245,16:21594997-29625302,16:21596299-30399167,16:21612313-28334665|.;po_P_loss_percent=0.00|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.430|.;GC_content_right=0.430|.;Repeat_coord_left=16:25872856-25873272,16:25873272-25873470|.;Repeat_type_left=L1ME3B,MER1B|.;Repeat_coord_right=16:25873272-25873470,16:25873470-25873529|.;Repeat_type_right=MER1B,(TTTA)n|.;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=39.47|39.47;ExAC_delZ=.|.;ExAC_dupZ=.|.;ExAC_cnvZ=.|.;ExAC_synZ=2.56606581784166|2.56606581784166;ExAC_misZ=2.65168476697972|2.65168476697972;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|2.0;GnomAD_pLI=0.79575|0.79575;ExAC_pLI=0.58102|0.58102;AnnotSV_ranking_score=0.0|.;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00),2B_(cf_po_P_loss_source,_HI_and_OMIM_morbid,_+0.00),3A_(1_gene,_+0.00),5F_(+0.00)|.;ACMG_class=3|full=3 GT:FT:GQ:PL:PR:SR 1/1:MinGQ:3:334,3,0:5,0:8,12 ./. +16 34050155 MantaDEL:108704:0:0:0:0:0 GCCCGCGACTCCGCGGCTTTTTGCCGCCGCCTCCGCGGCTTTTCCCCCGCGACTCCGCGGCTTTTTGCCGCCGCCTCCGCGGCTTTTTC G 374 PASS AnnotSV_ID=16_34050155_34050243_DEL_1;SV_chrom=16;SV_start=34050155;SV_end=34050243;SV_length=-88.0;SV_type=DEL;Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR:SR;sampleX=0/1:PASS:194:424,0,191:4,0:20,11;sample1=./.;Annotation_mode=full;CytoBand=p11.2;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15126469,dbVar:nssv15133058,dbVar:nssv15148703,dbVar:nssv15150639,nssv15151292,dbVar:nssv15158224,dbVar:nssv15158812,dbVar:nssv15158813,dbVar:nssv16216874;po_P_gain_coord=16:30703233-35147508,16:31986098-90294753,16:5805001-34230001,16:61451-90294632,16:69193-90274381,16:85881-90155062,16:88165-90163275,16:88165-90274695;po_P_gain_percent=0.00;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15141243;po_P_loss_coord=16:28826162-34375007;po_P_loss_percent=0.00;P_snvindel_nb=.;P_snvindel_phen=.;B_gain_source=DDD:47158;B_gain_coord=16:33983828-34200953;B_gain_AFmax=0.0213;B_loss_source=DDD:47158;B_loss_coord=16:33983828-34200953;B_loss_AFmax=0.0249;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=DDD:47158;po_B_gain_someG_coord=16:33983828-34200953;po_B_loss_allG_source=.;po_B_loss_allG_coord=.;po_B_loss_someG_source=DDD:47158;po_B_loss_someG_coord=16:33983828-34200953;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.000_(200_N);GC_content_right=0.000_(200_N);Repeat_coord_left=.;Repeat_type_left=.;Repeat_coord_right=.;Repeat_type_right=.;Gap_left=16:34023150-34173150;Gap_right=16:34023150-34173150;SegDup_left=.;SegDup_right=.;ENCODE_blacklist_left=16:33726300-34197900;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=16:33726300-34197900;ENCODE_blacklist_characteristics_right=High_Signal_Region;ACMG=.;HI=.;TS=.;DDD_HI_percent=.;ExAC_delZ=.;ExAC_dupZ=.;ExAC_cnvZ=.;ExAC_synZ=.;ExAC_misZ=.;GenCC_disease=.;GenCC_moi=.;GenCC_classification=.;GenCC_pmid=.;OMIM_ID=.;OMIM_phenotype=.;OMIM_inheritance=.;OMIM_morbid=.;OMIM_morbid_candidate=.;LOEUF_bin=.;GnomAD_pLI=.;ExAC_pLI=.;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_and_OMIM_morbid,_+0.00),3A_(0_gene,_+0.00),5F_(+0.00);ACMG_class=1 GT:FT:GQ:PL:PR:SR 0/1:PASS:194:424,0,191:4,0:20,11 ./. +16 36353046 MantaBND:189732:0:1:0:0:0:1 T T[chr19:27240843[ 32 SampleFT AnnotSV_ID=16_36353046_36353047_T[19_27240843[_1;SV_chrom=16;SV_start=36353046;SV_end=36353047;SV_length=.;SV_type=T[19:27240843[;Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR;sampleX=1/1:MinGQ:9:84,12,0:0,4;sample1=./.;Annotation_mode=full;CytoBand=p11.1;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15126469,dbVar:nssv15148703,dbVar:nssv15150356,dbVar:nssv15150639,nssv15151292,dbVar:nssv15158224,dbVar:nssv15158812,dbVar:nssv15158813;po_P_gain_coord=16:31986098-90294753,16:34197492-64509054,16:61451-90294632,16:69193-90274381,16:85881-90155062,16:88165-90163275,16:88165-90274695;po_P_gain_percent=0.00;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.000_(200_N);GC_content_right=0.000_(200_N);Repeat_coord_left=.;Repeat_type_left=.;Repeat_coord_right=.;Repeat_type_right=.;Gap_left=16:35335801-38335801;Gap_right=16:35335801-38335801;SegDup_left=.;SegDup_right=.;ENCODE_blacklist_left=16:35191100-46501300;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=16:35191100-46501300;ENCODE_blacklist_characteristics_right=High_Signal_Region;ACMG=.;HI=.;TS=.;DDD_HI_percent=.;ExAC_delZ=.;ExAC_dupZ=.;ExAC_cnvZ=.;ExAC_synZ=.;ExAC_misZ=.;GenCC_disease=.;GenCC_moi=.;GenCC_classification=.;GenCC_pmid=.;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=. GT:FT:GQ:PL:PR 1/1:MinGQ:9:84,12,0:0,4 ./. +17 25539212 MantaDUP:TANDEM:7:16121:16123:0:0:0 A 353 NoPairSupport AnnotSV_ID=17_25539212_25539213_DUP_TANDEM_1;SV_chrom=17;SV_start=25539212;SV_end=25539213;SV_length=1.0;SV_type=DUP:TANDEM;Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR:SR;sampleX=1/1:PASS:23:406,26,0:0,0:0,9;sample1=./.;Annotation_mode=full;CytoBand=q11.1;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15127236,dbVar:nssv15149908,nssv15152170,dbVar:nssv15159024,dbVar:nssv15159027,dbVar:nssv15159085,dbVar:nssv15160732,dbVar:nssv15223231,dbVar:nssv15775117,dbVar:nssv16207316,dbVar:nssv17969127;po_P_gain_coord=17:12344-81057996,17:16757563-81048189,17:21279289-27474974,17:21690653-28281232,17:21690653-38772647,17:25274363-28450707,17:25403446-31685464,17:526-81041938,17:7214-81058310,17:8547-81060040;po_P_gain_percent=0.00;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=CMRI:0_pbsv.DEL.524_duplicate4,esv2674902,gnomAD-SV_v2.1_DEL_17_159362;B_loss_coord=17:25536539-25540381,17:25536552-25540381,17:25536539-25540381;B_loss_AFmax=0.5418;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=esv2674902,gnomAD-SV_v2.1_DEL_17_159362,CMRI:0_pbsv.DEL.524_duplicate4;po_B_loss_someG_coord=17:25536539-25540381,17:25536552-25540381,17:25536539-25540381;TAD_coordinate=17:25520001-26080000,17:25520001-26840000,17:25520001-26920000;ENCODE_experiment=ENCFF075QYD:ENCFF437EBV:ENCFF676WJO:ENCFF938WXQ;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.715;GC_content_right=0.715;Repeat_coord_left=17:25538459-25540353;Repeat_type_left=SVA_E;Repeat_coord_right=17:25538459-25540353;Repeat_type_right=SVA_E;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=.;OMIM_ID=.;OMIM_phenotype=.;OMIM_inheritance=.;OMIM_morbid=.;OMIM_morbid_candidate=.;LOEUF_bin=.;GnomAD_pLI=.;ExAC_pLI=.;AnnotSV_ranking_score=-0.6;AnnotSV_ranking_criteria=1B_(cf_Gene_count,_RE_gene,_-0.60),;ACMG_class=3 GT:FT:GQ:PL:PR:SR 1/1:PASS:23:406,26,0:0,0:0,9 ./. +17 54627815 MantaDEL:197204:0:0:0:0:0 AAATCATCTGCTTGCAGTATATTTGCAGAAACCAAATAATCAAAGGGACTT A 659 PASS AnnotSV_ID=17_54627815_54627865_DEL_1;SV_chrom=17;SV_start=54627815;SV_end=54627865;SV_length=-50.0;SV_type=DEL;Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR:SR;sampleX=0/1:PASS:176:709,0,173:2,0:17,17;sample1=./.;Annotation_mode=full;CytoBand=q22;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15127236,dbVar:nssv15146325,dbVar:nssv15149031,dbVar:nssv15149626,dbVar:nssv15149908,nssv15152170,dbVar:nssv15150484,dbVar:nssv15159024,dbVar:nssv15159027,dbVar:nssv15160732;po_P_gain_coord=17:12344-81057996,17:16757563-81048189,17:42580684-81085615,17:48563237-65936105,17:49076980-58740945,17:52189051-57477162,17:526-81041938,17:7214-81058310,17:8547-81060040;po_P_gain_percent=0.00;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15127168,dbVar:nssv15132970,dbVar:nssv15153191,dbVar:nssv16297148;po_P_loss_coord=17:34750818-81048189,17:48051897-54884970,17:54290100-54844894,17:54584318-55220914;po_P_loss_percent=0.00,0.01;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.425;GC_content_right=0.415;Repeat_coord_left=17:54627572-54627840;Repeat_type_left=LTR33;Repeat_coord_right=17:54627572-54627840;Repeat_type_right=LTR33;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=.;OMIM_ID=.;OMIM_phenotype=.;OMIM_inheritance=.;OMIM_morbid=.;OMIM_morbid_candidate=.;LOEUF_bin=.;GnomAD_pLI=.;ExAC_pLI=.;AnnotSV_ranking_score=-0.6;AnnotSV_ranking_criteria=1B_(cf_Gene_count,_RE_gene,_-0.60),2B_(cf_po_P_loss_source,_HI_and_OMIM_morbid,_+0.00),3A_(0_gene,_+0.00),5F_(+0.00);ACMG_class=3 GT:FT:GQ:PL:PR:SR 0/1:PASS:176:709,0,173:2,0:17,17 ./. +17 82333571 MantaDUP:TANDEM:199220:0:1:0:0:0 A 258 PASS AnnotSV_ID=17_82333571_82333572_DUP_TANDEM_1;SV_chrom=17;SV_start=82333571;SV_end=82333572;SV_length=1.0;SV_type=DUP:TANDEM;Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR:SR;sampleX=0/1:PASS:203:308,0,200:3,1:12,10;sample1=./.;Annotation_mode=full;CytoBand=.;Gene_name=.;Gene_count=0.0;Tx=.;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=.;GC_content_right=.;Repeat_coord_left=.;Repeat_type_left=.;Repeat_coord_right=.;Repeat_type_right=.;Gap_left=.;Gap_right=.;SegDup_left=.;SegDup_right=.;ENCODE_blacklist_left=.;ENCODE_blacklist_characteristics_left=.;ENCODE_blacklist_right=.;ENCODE_blacklist_characteristics_right=.;ACMG=.;HI=.;TS=.;DDD_HI_percent=.;ExAC_delZ=.;ExAC_dupZ=.;ExAC_cnvZ=.;ExAC_synZ=.;ExAC_misZ=.;GenCC_disease=.;GenCC_moi=.;GenCC_classification=.;GenCC_pmid=.;OMIM_ID=.;OMIM_phenotype=.;OMIM_inheritance=.;OMIM_morbid=.;OMIM_morbid_candidate=.;LOEUF_bin=.;GnomAD_pLI=.;ExAC_pLI=.;AnnotSV_ranking_score=-0.6;AnnotSV_ranking_criteria=1B_(cf_Gene_count,_RE_gene,_-0.60),;ACMG_class=3 GT:FT:GQ:PL:PR:SR 0/1:PASS:203:308,0,200:3,1:12,10 ./. +19 17708402 MantaINS:206312:0:0:0:0:1 A ATATATACTATATATAGTATATATACTATATACTATATATAGTATATATAC 598 PASS AnnotSV_ID=19_17708402_17708403_INS_1;SV_chrom=19;SV_start=17708402;SV_end=17708403;SV_length=50.0;SV_type=INS;Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR:SR;sampleX=1/1:PASS:38:651,41,0:0,0:0,19;sample1=./.;Annotation_mode=full;CytoBand=p13.11;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15145840,dbVar:nssv15146318,dbVar:nssv15147146,dbVar:nssv15147244,dbVar:nssv15150638,nssv15150782,dbVar:nssv15173860,dbVar:nssv15173861,dbVar:nssv15174494,dbVar:nssv16254308;po_P_gain_coord=19:11338618-45129651,19:14085489-28330584,19:14286624-20956753,19:15244405-24376393,19:16526787-24631604,19:17287576-35415054,19:260912-58956888,19:260912-59097160,19:68029-59110290;po_P_gain_percent=0.00;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15151072;po_P_loss_coord=19:15959347-17901296;po_P_loss_percent=0.00;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.460;GC_content_right=0.460;Repeat_coord_left=19:17708276-17708904;Repeat_type_left=HERVH-int;Repeat_coord_right=19:17708276-17708904;Repeat_type_right=HERVH-int;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=.;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=. GT:FT:GQ:PL:PR:SR 1/1:PASS:38:651,41,0:0,0:0,19 ./. +20 29054617 MantaBND:181027:0:1:1:0:0:1 A A]chr21:5216478] 60 MaxDepth AnnotSV_ID=20_29054617_29054618_A]21_5216478]_1;SV_chrom=20;SV_start=29054617;SV_end=29054618;SV_length=.;SV_type=A]21:5216478];Samples_ID=sampleX;FORMAT=GT:FT:GQ:PL:PR;sampleX=0/1:PASS:60:110,0,425:29,11;sample1=./.;Annotation_mode=full;CytoBand=q11.1;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15126160,dbVar:nssv15143157,dbVar:nssv15161048,dbVar:nssv15161063,dbVar:nssv15161281,dbVar:nssv15161322,dbVar:nssv15161429,nssv15161862,dbVar:nssv15161614,nssv15161711,dbVar:nssv15161655,dbVar:nssv15163105,dbVar:nssv15163106,dbVar:nssv15163386,dbVar:nssv16253994,dbVar:nssv17956859,dbVar:nssv17969243,dbVar:nssv17969245;po_P_gain_coord=20:17705775-31600738,20:18665879-33903216,20:19750804-30479077,20:22042224-29520488,20:24162775-31820857,20:25442597-33761550,20:25755100-39058066,20:60747-29462103,20:61569-62915555,20:63244-62912463,20:63244-62948788,20:63244-62961294,20:67837-29638363,20:70580-29519992,20:80198-62908674,20:9792081-37945599;po_P_gain_percent=0.00;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.000_(200_N);GC_content_right=0.000_(200_N);Repeat_coord_left=.;Repeat_type_left=.;Repeat_coord_right=.;Repeat_type_right=.;Gap_left=20:26369569-29369569;Gap_right=20:26369569-29369569;SegDup_left=.;SegDup_right=.;ENCODE_blacklist_left=20:26184300-29519700;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=20:26184300-29519700;ENCODE_blacklist_characteristics_right=High_Signal_Region;ACMG=.;HI=.;TS=.;DDD_HI_percent=.;ExAC_delZ=.;ExAC_dupZ=.;ExAC_cnvZ=.;ExAC_synZ=.;ExAC_misZ=.;GenCC_disease=.;GenCC_moi=.;GenCC_classification=.;GenCC_pmid=.;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=. GT:FT:GQ:PL:PR 0/1:PASS:60:110,0,425:29,11 ./. +22 32179722 MantaBND:133429:1:2:0:0:0:1 A A[chr9:98712815[ 222 PASS AnnotSV_ID=22_32179722_32179723_A[9_98712815[_1|22_32179722_32179723_A[9_98712815[_1;SV_chrom=22|22;SV_start=32179722|32179722;SV_end=32179723|32179723;SV_length=.|.;SV_type=A[9:98712815[|A[9:98712815[;Samples_ID=sampleX|sampleX;FORMAT=GT:FT:GQ:PL:PR|GT:FT:GQ:PL:PR;sampleX=0/1:PASS:129:272,0,126:11,16|0/1:PASS:129:272,0,126:11,16;sample1=./.|./.;Annotation_mode=full&split;CytoBand=q12.2|q12.2;Gene_name=DEPDC5|DEPDC5;Gene_count=1.0|.;Tx=.|NM_001136029;Tx_start=.|32149953.0;Tx_end=.|32303001.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|43.0;Location=.|intron8-intron8;Location2=.|CDS;Dist_nearest_SS=.|169.0;Nearest_SS_type=.|3';Intersect_start=.|32179722.0;Intersect_end=.|32179723.0;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=dbVar:nssv15128500,dbVar:nssv15132509,dbVar:nssv15132566,dbVar:nssv15134705,dbVar:nssv15135998,dbVar:nssv15141185,dbVar:nssv15142303,dbVar:nssv15146613,dbVar:nssv15146973,dbVar:nssv15147269,dbVar:nssv15149512,nssv15150794,dbVar:nssv15150031,dbVar:nssv15150491,dbVar:nssv15154019,dbVar:nssv15161990,dbVar:nssv15161992,dbVar:nssv15164031,dbVar:nssv15774756,dbVar:nssv16208602,dbVar:nssv16254742|.;po_P_gain_coord=22:16054667-51243435,22:16054691-51220902,22:16054691-51237463,22:16054691-51237518,22:16114244-51195728,22:16114244-51211392,22:16197005-51224252,22:16888899-51197838,22:16888900-51197838,22:17397498-51178264,22:17397633-51178213,22:18628132-51244566,22:18661724-32217179,22:21261514-37583387,22:22460754-35198232,22:23621418-36643415,22:23637907-36614412,22:27375542-34388209,22:28349854-33013062,22:30654764-51197838|.;po_P_gain_percent=0.00|.;po_P_loss_phen=Epilepsy,_familial_focal,_with_variable_foci_1,_604364_(3)_AD|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15129412,dbVar:nssv15771629,nssv17172476,dbVar:nssv16214655,dbVar:nssv16214710,dbVar:nssv16214841,dbVar:nssv17172700,dbVar:nssv17172925,dbVar:nssv17970499,dbVar:nssv17972539,morbid:DEPDC5|.;po_P_loss_coord=22:32150008-32303001,22:32150888-32180881,22:32150888-32188823,22:32150888-32211218,22:32150888-32211435,22:32150888-32302503,22:32150908-32193709,22:32150908-32211218,22:32174065-32180881,22:32174065-32188823|.;po_P_loss_percent=0.00,0.01|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.325|.;GC_content_right=0.320|.;Repeat_coord_left=22:32179414-32179675,22:32179715-32179854|.;Repeat_type_left=AluJo,L1MB2|.;Repeat_coord_right=22:32179414-32179675,22:32179715-32179854|.;Repeat_type_right=AluJo,L1MB2|.;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=37.92|37.92;ExAC_delZ=1.10357559550281|1.10357559550281;ExAC_dupZ=0.328237032039341|0.328237032039341;ExAC_cnvZ=0.652683094829197|0.652683094829197;ExAC_synZ=-0.0411463805355631|-0.0411463805355631;ExAC_misZ=3.27756090785694|3.27756090785694;GenCC_disease=.|Autosomal_dominant_epilepsy_with_auditory_features,Brugada_syndrome,autosomal_dominant_nocturnal_frontal_lobe_epilepsy,epilepsy,_familial_focal,_with_variable_foci_1,familial_focal_epilepsy_with_variable_foci;GenCC_moi=.|AD;GenCC_classification=.|Definitive,Limited,Strong,Supportive;GenCC_pmid=.|10577924,10825362,14510823,15329069,23542697,23542697[PMID]_23542701[PMID],23542701,24283814,24585383,25366275,26216793,27626380,9851433;OMIM_ID=614191|614191;OMIM_phenotype=.|Epilepsy,_familial_focal,_with_variable_foci_1,_604364_(3)_AD;OMIM_inheritance=.|AD;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.1165|0.1165;ExAC_pLI=1.0|1.0;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT:FT:GQ:PL:PR 0/1:PASS:129:272,0,126:11,16 ./. diff --git a/tests/test_main.py b/tests/test_main.py new file mode 100644 index 0000000..398b7fb --- /dev/null +++ b/tests/test_main.py @@ -0,0 +1,81 @@ +import sys +from os.path import join as osj +import os + + +sys.path.append(osj(os.path.dirname(__file__), "..", "vcf2circos", "plotcategories")) +sys.path.append(osj(os.path.dirname(__file__), "..", "vcf2circos")) +print(__file__) +import typing +import pytest +import vcf + +import typing +import os +import json + +from plotconfig import Plotconfig +from datafactory import Datafactory + +#Testfiles +input_files_copy = "test_copy_number.vcf" +input_files_genes = "test_gene_matcher.vcf" +input_files_transloc = "test_transloc.vcf" +input_files_empty = "test_empty.vcf" + +with open("test_config.json", "r") as f: + options = json.load(f) +rangescale = [] +val = options["Variants"]["rings"]["position"] + options["Variants"]["rings"]["space"] +rangescale.append(val) +for i in range(options["Variants"]["rings"]["nrings"]): + val += ( + options["Variants"]["rings"]["height"] + options["Variants"]["rings"]["space"] + ) + +genes_check = ['ABHD12B', 'ACTR10', 'AP5M1', 'ARF6', 'ARID4A', 'ARMH4', 'ATG14', 'ATL1', 'BMP4', 'CCDC175', 'CCDC198', 'CDKL1', 'CDKN3', 'CGRRF1', 'CNIH1', 'DAAM1', 'DACT1', 'DDHD1', 'DLGAP5', 'DMAC2L', 'DNAAF2', 'ERO1A', 'EXOC5', 'FBXO34', 'FERMT2', 'FRMD6', 'FRMD6-AS1', 'FRMD6-AS2', 'GCH1', 'GMFB', 'GNG2', 'GNPNAT1', 'GPR135', 'GPR137C', 'JKAMP', 'KIAA0586', 'KLHDC1', 'KLHDC2', 'KTN1', 'KTN1-AS1', 'L2HGDH', 'L3HYPDH', 'LGALS3', 'LINC00216', 'LINC00519', 'LINC00520', 'LINC00640', 'LINC01500', 'LINC01588', 'LINC01599', 'LINC02310', 'LOC101927620', 'LOC101927690', 'LOC102723604', 'LOC105370489', 'LRR1', 'MAP4K5', 'MAPK1IP1L', 'MGAT2', 'MIR4308', 'MIR4504', 'MIR5580', 'MIR6076', 'NAA30', 'NEMF', 'NID2', 'NIN', 'OTX2', 'OTX2-AS1', 'PELI2', 'POLE2', 'PSMA3', 'PSMA3-AS1', 'PSMC6', 'PTGDR', 'PTGER2', 'PYGL', 'RN7SL1', 'RN7SL2', 'RN7SL3', 'RPL13AP3', 'RPL36AL', 'RPS29', 'RTRAF', 'SAMD4A', 'SAV1', 'SLC35F4', 'SOCS4', 'SOS2', 'STYX', 'TBPL2', 'TIMM9', 'TMEM260', 'TMX1', 'TOMM20L', 'TRIM9', 'TXNDC16', 'VCPKMT', 'DLGAP5', 'KTN1', 'LOC101927690', 'ARF6', 'ATG14', 'L2HGDH', 'SLC35F4', 'PSMA3-AS1', 'LINC01588', 'DDHD1', 'MIR4308', 'DAAM1', 'PELI2', 'PTGDR', 'LOC105370489', 'TXNDC16', 'TBPL2', 'ARID4A', 'TOMM20L', 'DNAAF2', 'ABHD12B', 'FERMT2', 'LINC02310', 'DACT1', 'ACTR10', 'KLHDC2', 'FRMD6-AS1', 'ERO1A', 'TMEM260', 'GPR137C', 'RPL13AP3', 'RPL36AL', 'LRR1', 'RTRAF', 'PTGER2', 'LGALS3', 'EXOC5', 'LINC01500', 'NID2', 'PSMC6', 'TIMM9', 'RN7SL3', 'AP5M1', 'GPR135', 'FRMD6-AS2', 'RN7SL2', 'NEMF', 'KTN1-AS1', 'FRMD6', 'ARMH4', 'CDKL1', 'KIAA0586', 'POLE2', 'NAA30', 'WDHD1', 'SOS2', 'BMP4', 'CDKN3', 'MIR4504', 'KLHDC1', 'MAPK1IP1L', 'LINC01599', 'OTX2-AS1', 'ATL1', 'FBXO34', 'CGRRF1', 'CNIH1', 'LINC00519', 'MIR5580', 'L3HYPDH', 'GNPNAT1', 'RN7SL1', 'LINC00216', 'LOC101927620', 'TRIM9', 'GMFB', 'CCDC198', 'MGAT2', 'RPS29', 'JKAMP', 'PYGL', 'SOCS4', 'STYX', 'LINC00520', 'DMAC2L', 'GCH1', 'TMX1', 'NIN', 'CCDC175', 'VCPKMT', 'PSMA3', 'LINC00640', 'GNG2', 'SAMD4A', 'MIR6076', 'OTX2', 'LOC102723604', 'MAP4K5', 'SAV1'] + +def generate_testing_data(input: str) -> object: + return Plotconfig( + input, + options, + show=True, + file=None, + radius=None, + sortbycolor=None, + colorcolumn=6, + hovertextformat=None, + trace_car=None, + data=None, + layout=None, + rangescale=rangescale, + config_ring=options["Variants"]["rings"], + ) + + +def test_get_copynumber_type(): + pc = generate_testing_data(input_files_copy) + for variants in pc.data["Record"]: + assert ( + pc.get_copynumber_type(variants)[0] in options["Color"].keys() + ), "unknown SVtype" + + +def test_get_genes_var(): + pc = generate_testing_data(input_files_genes) + for variants in pc.data["Record"]: + if variants.CHROM == "chr14" and variants.POS == 50000000: + genes_list = pc.get_genes_var(variants).split(",") + assert all(genes for genes in genes_list if genes in genes_check) and len(genes_list) == len(genes_check), "ERROR Genes finding have a problem \nGenes needed: "+str(len(genes_check))+" genes \nGenes: "+' ,'.join(genes_check)+"\nGenes provided: "+str(len(genes_list))+" genes \n Genes: "+' ,'.join(genes_list) + +def test_datafactory_type(): + #pc = generate_testing_data(input_files_transloc) + plots = [] + plots_expected = ["ideogram", "cytoband", "histogram", "link"] + for k in Datafactory(input_files_transloc, options).plot_dict()["Category"]: + plots.append(k) + assert plots == plots_expected, "ERROR wrong category chart in list \nNeeded: "+' ,'.join(plots_expected)+"\nProvided: "+' ,'.join(plots) + +def test_empty_vcf(): + pc = generate_testing_data(input_files_empty) + assert len(pc.data["Variants"]) == 0, "No variant should be present, variants at least one "+str(pc.data["Variants"][0]) diff --git a/tests/test_transloc.vcf b/tests/test_transloc.vcf new file mode 100644 index 0000000..0262110 --- /dev/null +++ b/tests/test_transloc.vcf @@ -0,0 +1,238 @@ +##fileformat=VCFv4.3 +##fileDate=17/03/2023 +##source=AnnotSV +##InputFile=/enadisk/tempor/AnnotSV/tmpJobs/5c7dyC30Ps/5c7dyC30Ps.tsv +##FILTER= +##ALT= +##ALT= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO==0.9 as an extremely LoF intolerant gene"> +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##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."> +##INFO= +##INFO= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##reference=file:human_g1k_v37.fasta +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT chromo.vcf +21 16708382 6d68b33 a a[chr21:46928255[ . PASS AnnotSV_ID=21_16708382_16708383_BND_1;SV_chrom=21;SV_start=16708382;SV_end=16708383;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q21.1;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15133187,dbVar:nssv15134358,dbVar:nssv15134359,dbVar:nssv15140512,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15605864,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969256,dbVar:nssv17969257,dbVar:nssv17969258,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv8639394;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-25730963,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14448382-20762577,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14714507-29216662,21:14771770-48080867,21:15006457-26760450,21:15006457-27430623,21:15006457-28820583,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15069314-22812366,21:15285841-48097372,21:15410701-48090317,21:15442582-20723130,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-18565607,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15132919,dbVar:nssv15133177,dbVar:nssv15133178,dbVar:nssv15134325,dbVar:nssv15135667,dbVar:nssv15136031,dbVar:nssv15139419,dbVar:nssv15139554,dbVar:nssv15139555,dbVar:nssv15139965,dbVar:nssv15142182,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15156269,dbVar:nssv16208575,dbVar:nssv16208576;po_P_loss_coord=21:14338130-28983735,21:14566666-30629529,21:15006457-19583516,21:15006457-24522577,21:15006457-25292671,21:15006457-29225300,21:15006457-29325923,21:15006458-29235160,21:15347195-29186439,21:15373041-32275384,21:15392168-19497369,21:15451032-39025955,21:15485038-22669593,21:15485038-48090352,21:15499847-20611037,21:15538655-48080926;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.29;GC_content_right=0.285;Repeat_coord_left=21:16708113-16708534;Repeat_type_left=L1M4;Repeat_coord_right=21:16708113-16708534;Repeat_type_right=L1M4;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=.;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=. GT 0/1 +21 16708573 de0efe0 g ]chr21:46927927]g . PASS AnnotSV_ID=21_16708573_16708574_BND_1;SV_chrom=21;SV_start=16708573;SV_end=16708574;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q21.1;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15133187,dbVar:nssv15134358,dbVar:nssv15134359,dbVar:nssv15140512,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15605864,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969256,dbVar:nssv17969257,dbVar:nssv17969258,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv8639394;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-25730963,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14448382-20762577,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14714507-29216662,21:14771770-48080867,21:15006457-26760450,21:15006457-27430623,21:15006457-28820583,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15069314-22812366,21:15285841-48097372,21:15410701-48090317,21:15442582-20723130,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-18565607,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15132919,dbVar:nssv15133177,dbVar:nssv15133178,dbVar:nssv15134325,dbVar:nssv15135667,dbVar:nssv15136031,dbVar:nssv15139419,dbVar:nssv15139554,dbVar:nssv15139555,dbVar:nssv15139965,dbVar:nssv15142182,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15156269,dbVar:nssv16208575,dbVar:nssv16208576;po_P_loss_coord=21:14338130-28983735,21:14566666-30629529,21:15006457-19583516,21:15006457-24522577,21:15006457-25292671,21:15006457-29225300,21:15006457-29325923,21:15006458-29235160,21:15347195-29186439,21:15373041-32275384,21:15392168-19497369,21:15451032-39025955,21:15485038-22669593,21:15485038-48090352,21:15499847-20611037,21:15538655-48080926;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.285;GC_content_right=0.285;Repeat_coord_left=21:16708113-16708534,21:16708557-16708920;Repeat_type_left=L1M4,L1PA17;Repeat_coord_right=21:16708113-16708534,21:16708557-16708920;Repeat_type_right=L1M4,L1PA17;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=.;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=. GT 0/1 +21 17138976 e7880e4 T ]chr21:21159316]T . PASS AnnotSV_ID=21_17138976_17138977_BND_1|21_17138976_17138977_BND_1;SV_chrom=21|21;SV_start=17138976|17138976;SV_end=17138977|17138977;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q21.1|q21.1;Gene_name=USP25|USP25;Gene_count=1.0|.;Tx=.|NM_001283041;Tx_start=.|17102252.0;Tx_end=.|17252390.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|26.0;Location=.|intron3-intron3;Location2=.|CDS;Dist_nearest_SS=.|516.0;Nearest_SS_type=.|5';Intersect_start=.|17138976.0;Intersect_end=.|17138977.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15133187,dbVar:nssv15134358,dbVar:nssv15134359,dbVar:nssv15140512,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15605864,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969256,dbVar:nssv17969257,dbVar:nssv17969258,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv8639394|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-25730963,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14448382-20762577,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14714507-29216662,21:14771770-48080867,21:15006457-26760450,21:15006457-27430623,21:15006457-28820583,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15069314-22812366,21:15285841-48097372,21:15410701-48090317,21:15442582-20723130,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-18565607,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895|.;po_P_gain_percent=0.0|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15132919,dbVar:nssv15133177,dbVar:nssv15133178,dbVar:nssv15134325,dbVar:nssv15135108,dbVar:nssv15135667,dbVar:nssv15136031,dbVar:nssv15139419,dbVar:nssv15139554,dbVar:nssv15139555,dbVar:nssv15139965,dbVar:nssv15142182,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15156269,dbVar:nssv16208575,dbVar:nssv16208576|.;po_P_loss_coord=21:14338130-28983735,21:14566666-30629529,21:15006457-19583516,21:15006457-24522577,21:15006457-25292671,21:15006457-29225300,21:15006457-29325923,21:15006458-29235160,21:15347195-29186439,21:15373041-32275384,21:15392168-19497369,21:15451032-39025955,21:15485038-22669593,21:15485038-48090352,21:15499847-20611037,21:15538655-48080926,21:16714035-24198636|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=21:17120001-17840000,21:17120001-18720000,21:17120001-18800000,21:17120001-27000000|21:17120001-17840000,21:17120001-18720000,21:17120001-18800000,21:17120001-27000000;ENCODE_experiment=ENCFF373MCF:ENCFF558RGV:ENCFF898HOT|ENCFF373MCF:ENCFF558RGV:ENCFF898HOT;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.295|.;GC_content_right=0.3|.;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=25.35|25.35;ExAC_delZ=1.08745424828764|1.08745424828764;ExAC_dupZ=0.740681211972163|0.740681211972163;ExAC_cnvZ=0.981161669963813|0.981161669963813;ExAC_synZ=-0.236679196919823|-0.236679196919823;ExAC_misZ=1.01919133931656|1.01919133931656;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.7522|0.7522;ExAC_pLI=0.99013|0.99013;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 17139203 dbb843b T T[chr21:21159411[ . PASS AnnotSV_ID=21_17139203_17139204_BND_1|21_17139203_17139204_BND_1;SV_chrom=21|21;SV_start=17139203|17139203;SV_end=17139204|17139204;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q21.1|q21.1;Gene_name=USP25|USP25;Gene_count=1.0|.;Tx=.|NM_001283041;Tx_start=.|17102252.0;Tx_end=.|17252390.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|26.0;Location=.|intron3-intron3;Location2=.|CDS;Dist_nearest_SS=.|743.0;Nearest_SS_type=.|5';Intersect_start=.|17139203.0;Intersect_end=.|17139204.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15133187,dbVar:nssv15134358,dbVar:nssv15134359,dbVar:nssv15140512,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15605864,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969256,dbVar:nssv17969257,dbVar:nssv17969258,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv8639394|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-25730963,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14448382-20762577,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14714507-29216662,21:14771770-48080867,21:15006457-26760450,21:15006457-27430623,21:15006457-28820583,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15069314-22812366,21:15285841-48097372,21:15410701-48090317,21:15442582-20723130,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-18565607,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895|.;po_P_gain_percent=0.0|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15132919,dbVar:nssv15133177,dbVar:nssv15133178,dbVar:nssv15134325,dbVar:nssv15135108,dbVar:nssv15135667,dbVar:nssv15136031,dbVar:nssv15139419,dbVar:nssv15139554,dbVar:nssv15139555,dbVar:nssv15139965,dbVar:nssv15142182,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15156269,dbVar:nssv16208575,dbVar:nssv16208576|.;po_P_loss_coord=21:14338130-28983735,21:14566666-30629529,21:15006457-19583516,21:15006457-24522577,21:15006457-25292671,21:15006457-29225300,21:15006457-29325923,21:15006458-29235160,21:15347195-29186439,21:15373041-32275384,21:15392168-19497369,21:15451032-39025955,21:15485038-22669593,21:15485038-48090352,21:15499847-20611037,21:15538655-48080926,21:16714035-24198636|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=21:17120001-17840000,21:17120001-18720000,21:17120001-18800000,21:17120001-27000000|21:17120001-17840000,21:17120001-18720000,21:17120001-18800000,21:17120001-27000000;ENCODE_experiment=ENCFF373MCF:ENCFF558RGV:ENCFF898HOT|ENCFF373MCF:ENCFF558RGV:ENCFF898HOT;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.22|.;GC_content_right=0.22|.;Repeat_coord_left=21:17139262-17139299|.;Repeat_type_left=AT_rich|.;Repeat_coord_right=21:17139262-17139299|.;Repeat_type_right=AT_rich|.;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=25.35|25.35;ExAC_delZ=1.08745424828764|1.08745424828764;ExAC_dupZ=0.740681211972163|0.740681211972163;ExAC_cnvZ=0.981161669963813|0.981161669963813;ExAC_synZ=-0.236679196919823|-0.236679196919823;ExAC_misZ=1.01919133931656|1.01919133931656;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.7522|0.7522;ExAC_pLI=0.99013|0.99013;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 21159316 654635f T T[chr21:17138976[ . PASS AnnotSV_ID=21_21159316_21159317_BND_1;SV_chrom=21;SV_start=21159316;SV_end=21159317;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q21.1;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15134359,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15605864,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969256,dbVar:nssv17969257,dbVar:nssv17969258,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv8639394;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-25730963,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14714507-29216662,21:14771770-48080867,21:15006457-26760450,21:15006457-27430623,21:15006457-28820583,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15069314-22812366,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15133177,dbVar:nssv15134325,dbVar:nssv15135108,dbVar:nssv15135667,dbVar:nssv15136031,dbVar:nssv15138316,dbVar:nssv15139554,dbVar:nssv15139555,dbVar:nssv15139965,dbVar:nssv15142182,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15156269,dbVar:nssv16208575,dbVar:nssv16208576;po_P_loss_coord=21:14338130-28983735,21:14566666-30629529,21:15006457-24522577,21:15006457-25292671,21:15006457-29225300,21:15006457-29325923,21:15006458-29235160,21:15347195-29186439,21:15373041-32275384,21:15451032-39025955,21:15485038-22669593,21:15485038-48090352,21:15538655-48080926,21:16714035-24198636,21:20795486-33213462;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.305;GC_content_right=0.3;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=.;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=. GT 0/1 +21 21159411 cc35fe2 T ]chr21:17139203]T . PASS AnnotSV_ID=21_21159411_21159412_BND_1;SV_chrom=21;SV_start=21159411;SV_end=21159412;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q21.1;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15134359,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15605864,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969256,dbVar:nssv17969257,dbVar:nssv17969258,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv8639394;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-25730963,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14714507-29216662,21:14771770-48080867,21:15006457-26760450,21:15006457-27430623,21:15006457-28820583,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15069314-22812366,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15133177,dbVar:nssv15134325,dbVar:nssv15135108,dbVar:nssv15135667,dbVar:nssv15136031,dbVar:nssv15138316,dbVar:nssv15139554,dbVar:nssv15139555,dbVar:nssv15139965,dbVar:nssv15142182,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15156269,dbVar:nssv16208575,dbVar:nssv16208576;po_P_loss_coord=21:14338130-28983735,21:14566666-30629529,21:15006457-24522577,21:15006457-25292671,21:15006457-29225300,21:15006457-29325923,21:15006458-29235160,21:15347195-29186439,21:15373041-32275384,21:15451032-39025955,21:15485038-22669593,21:15485038-48090352,21:15538655-48080926,21:16714035-24198636,21:20795486-33213462;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.315;GC_content_right=0.315;Repeat_coord_left=21:21159493-21159527;Repeat_type_left=(TA)n;Repeat_coord_right=21:21159493-21159527;Repeat_type_right=(TA)n;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=.;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=. GT 0/1 +21 21444957 01c79bb g ]chr21:47889833]g . PASS AnnotSV_ID=21_21444957_21444958_BND_1;SV_chrom=21;SV_start=21444957;SV_end=21444958;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q21.1;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15134359,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15605864,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969256,dbVar:nssv17969257,dbVar:nssv17969258,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv8639394;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-25730963,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14714507-29216662,21:14771770-48080867,21:15006457-26760450,21:15006457-27430623,21:15006457-28820583,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15069314-22812366,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15133177,dbVar:nssv15134325,dbVar:nssv15135108,dbVar:nssv15135667,dbVar:nssv15136031,dbVar:nssv15138316,dbVar:nssv15139554,dbVar:nssv15139555,dbVar:nssv15139965,dbVar:nssv15142182,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15156269,dbVar:nssv16208575,dbVar:nssv16208576;po_P_loss_coord=21:14338130-28983735,21:14566666-30629529,21:15006457-24522577,21:15006457-25292671,21:15006457-29225300,21:15006457-29325923,21:15006458-29235160,21:15347195-29186439,21:15373041-32275384,21:15451032-39025955,21:15485038-22669593,21:15485038-48090352,21:15538655-48080926,21:16714035-24198636,21:20795486-33213462;po_P_loss_percent=0.0;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=.;TAD_coordinate=21:21440001-22400000;ENCODE_experiment=ENCFF075QYD:ENCFF437EBV;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.265;GC_content_right=0.265;Repeat_coord_left=21:21444943-21445365;Repeat_type_left=L1MD;Repeat_coord_right=21:21444943-21445365;Repeat_type_right=L1MD;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=.;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=. GT 0/1 +21 21445361 2389bd0 t t[chr21:47889938[ . PASS AnnotSV_ID=21_21445361_21445362_BND_1;SV_chrom=21;SV_start=21445361;SV_end=21445362;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q21.1;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15134359,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15605864,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969256,dbVar:nssv17969257,dbVar:nssv17969258,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv8639394;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-25730963,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14714507-29216662,21:14771770-48080867,21:15006457-26760450,21:15006457-27430623,21:15006457-28820583,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15069314-22812366,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15133177,dbVar:nssv15134325,dbVar:nssv15135108,dbVar:nssv15135667,dbVar:nssv15136031,dbVar:nssv15138316,dbVar:nssv15139554,dbVar:nssv15139555,dbVar:nssv15139965,dbVar:nssv15142182,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15156269,dbVar:nssv16208575,dbVar:nssv16208576;po_P_loss_coord=21:14338130-28983735,21:14566666-30629529,21:15006457-24522577,21:15006457-25292671,21:15006457-29225300,21:15006457-29325923,21:15006458-29235160,21:15347195-29186439,21:15373041-32275384,21:15451032-39025955,21:15485038-22669593,21:15485038-48090352,21:15538655-48080926,21:16714035-24198636,21:20795486-33213462;po_P_loss_percent=0.0;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=.;TAD_coordinate=21:21440001-22400000;ENCODE_experiment=ENCFF075QYD:ENCFF437EBV;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.255;GC_content_right=0.255;Repeat_coord_left=21:21444943-21445365;Repeat_type_left=L1MD;Repeat_coord_right=21:21444943-21445365;Repeat_type_right=L1MD;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=.;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=. GT 0/1 +21 27548715 e5dff79 G G[chr21:28852024[ . PASS AnnotSV_ID=21_27548715_27548716_BND_1;SV_chrom=21;SV_start=27548715;SV_end=27548716;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q21.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17955923,dbVar:nssv17969258,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv8639394;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14714507-29216662,21:14771770-48080867,21:15006457-28820583,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:26253828-30011000;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15123773,dbVar:nssv15133177,dbVar:nssv15134325,dbVar:nssv15136031,dbVar:nssv15136425,dbVar:nssv15138316,dbVar:nssv15139554,dbVar:nssv15139555,dbVar:nssv15139965,dbVar:nssv15142182,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv16208576;po_P_loss_coord=21:14338130-28983735,21:14566666-30629529,21:15006457-29225300,21:15006457-29325923,21:15006458-29235160,21:15347195-29186439,21:15373041-32275384,21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:23642834-29067448;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.42;GC_content_right=0.415;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=.;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=. GT 0/1 +21 27548933 399a75e A ]chr21:28851770]A . PASS AnnotSV_ID=21_27548933_27548934_BND_1;SV_chrom=21;SV_start=27548933;SV_end=27548934;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q21.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17955923,dbVar:nssv17969258,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv8639394;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14714507-29216662,21:14771770-48080867,21:15006457-28820583,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:26253828-30011000;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15123773,dbVar:nssv15133177,dbVar:nssv15134325,dbVar:nssv15136031,dbVar:nssv15136425,dbVar:nssv15138316,dbVar:nssv15139554,dbVar:nssv15139555,dbVar:nssv15139965,dbVar:nssv15142182,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv16208576;po_P_loss_coord=21:14338130-28983735,21:14566666-30629529,21:15006457-29225300,21:15006457-29325923,21:15006458-29235160,21:15347195-29186439,21:15373041-32275384,21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:23642834-29067448;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.455;GC_content_right=0.455;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=.;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=. GT 0/1 +21 28851770 15a3f66 g g[chr21:27548933[ . PASS AnnotSV_ID=21_28851770_28851771_BND_1;SV_chrom=21;SV_start=28851770;SV_end=28851771;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q21.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17955923,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv8639394;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14714507-29216662,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:26253828-30011000;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15123773,dbVar:nssv15133177,dbVar:nssv15134325,dbVar:nssv15136031,dbVar:nssv15136425,dbVar:nssv15138316,dbVar:nssv15139554,dbVar:nssv15139555,dbVar:nssv15139965,dbVar:nssv15142182,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv16208576,dbVar:nssv16208577;po_P_loss_coord=21:14338130-28983735,21:14566666-30629529,21:15006457-29225300,21:15006457-29325923,21:15006458-29235160,21:15347195-29186439,21:15373041-32275384,21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:23642834-29067448,21:27826100-32468109;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.49;GC_content_right=0.495;Repeat_coord_left=21:28851355-28852774;Repeat_type_left=MLT1A1-int;Repeat_coord_right=21:28851355-28852774;Repeat_type_right=MLT1A1-int;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=.;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=. GT 0/1 +21 28852024 66185f1 a ]chr21:27548715]a . PASS AnnotSV_ID=21_28852024_28852025_BND_1;SV_chrom=21;SV_start=28852024;SV_end=28852025;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q21.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17955923,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv8639394;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14714507-29216662,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:26253828-30011000;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15123773,dbVar:nssv15133177,dbVar:nssv15134325,dbVar:nssv15136031,dbVar:nssv15136425,dbVar:nssv15138316,dbVar:nssv15139554,dbVar:nssv15139555,dbVar:nssv15139965,dbVar:nssv15142182,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv16208576,dbVar:nssv16208577;po_P_loss_coord=21:14338130-28983735,21:14566666-30629529,21:15006457-29225300,21:15006457-29325923,21:15006458-29235160,21:15347195-29186439,21:15373041-32275384,21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:23642834-29067448,21:27826100-32468109;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.53;GC_content_right=0.525;Repeat_coord_left=21:28851355-28852774;Repeat_type_left=MLT1A1-int;Repeat_coord_right=21:28851355-28852774;Repeat_type_right=MLT1A1-int;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=.;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=. GT 0/1 +21 29216730 4134734 g g[chr21:37134972[ . PASS AnnotSV_ID=21_29216730_29216731_BND_1;SV_chrom=21;SV_start=29216730;SV_end=29216731;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q21.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17955923,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:26253828-30011000;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15123773,dbVar:nssv15133177,dbVar:nssv15134325,dbVar:nssv15136031,dbVar:nssv15138316,dbVar:nssv15139965,dbVar:nssv15142182,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv16208576,dbVar:nssv16208577;po_P_loss_coord=21:14566666-30629529,21:15006457-29225300,21:15006457-29325923,21:15006458-29235160,21:15373041-32275384,21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:27826100-32468109;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.45;GC_content_right=0.45;Repeat_coord_left=21:29216636-29217258;Repeat_type_left=MER77;Repeat_coord_right=21:29216636-29217258;Repeat_type_right=MER77;Gap_left=.;Gap_right=.;SegDup_left=21:29216535-29218120,21:29216535-29218781,21:29216535-29218785,21:29216535-29218785,21:29216535-29218785,21:29216535-29218785,21:29216535-29218785,21:29216535-29280737,21:29216535-29321177,21:29216537-29218784,21:29216660-29266871,21:29216660-29266871;SegDup_right=21:29216535-29218120,21:29216535-29218781,21:29216535-29218785,21:29216535-29218785,21:29216535-29218785,21:29216535-29218785,21:29216535-29218785,21:29216535-29280737,21:29216535-29321177,21:29216537-29218784,21:29216660-29266871,21:29216660-29266871;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=.;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=. GT 0/1 +21 29261455 67a176d g ]chr21:37135313]g . PASS AnnotSV_ID=21_29261455_29261456_BND_1;SV_chrom=21;SV_start=29261455;SV_end=29261456;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q21.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15755175,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17955923,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14374186-29305180,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:26253828-30011000;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15123773,dbVar:nssv15133177,dbVar:nssv15134325,dbVar:nssv15136031,dbVar:nssv15138316,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv16208576,dbVar:nssv16208577;po_P_loss_coord=21:14566666-30629529,21:15006457-29325923,21:15373041-32275384,21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:27826100-32468109;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.49;GC_content_right=0.495;Repeat_coord_left=21:29261123-29261472;Repeat_type_left=ERV3-16A3_I-int;Repeat_coord_right=21:29261123-29261472;Repeat_type_right=ERV3-16A3_I-int;Gap_left=.;Gap_right=.;SegDup_left=21:29216535-29280737,21:29216535-29321177,21:29216660-29266871,21:29216660-29266871;SegDup_right=21:29216535-29280737,21:29216535-29321177,21:29216660-29266871,21:29216660-29266871;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=.;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=. GT 0/1 +21 32173602 d335e96 c c[chr21:41267805[ . PASS AnnotSV_ID=21_32173602_32173603_BND_1;SV_chrom=21;SV_start=32173602;SV_end=32173603;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.11;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163299,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:30214872-34896962;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15123773,dbVar:nssv15133177,dbVar:nssv15136031,dbVar:nssv15137471,dbVar:nssv15138316,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv16208577,dbVar:nssv16209005;po_P_loss_coord=21:15373041-32275384,21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:27826100-32468109,21:29880468-36062331,21:31711916-34632473;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.29;GC_content_right=0.29;Repeat_coord_left=21:32173449-32173865;Repeat_type_left=L1MA9;Repeat_coord_right=21:32173449-32173865;Repeat_type_right=L1MA9;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=.;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=. GT 0/1 +21 32173840 db4bb11 t ]chr21:41267524]t . PASS AnnotSV_ID=21_32173840_32173841_BND_1;SV_chrom=21;SV_start=32173840;SV_end=32173841;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.11;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163299,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:30214872-34896962;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15123773,dbVar:nssv15133177,dbVar:nssv15136031,dbVar:nssv15137471,dbVar:nssv15138316,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv16208577,dbVar:nssv16209005;po_P_loss_coord=21:15373041-32275384,21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:27826100-32468109,21:29880468-36062331,21:31711916-34632473;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.36;GC_content_right=0.365;Repeat_coord_left=21:32173449-32173865;Repeat_type_left=L1MA9;Repeat_coord_right=21:32173449-32173865;Repeat_type_right=L1MA9;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=.;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=. GT 0/1 +21 32729090 56bd7ef T ]chr21:40730405]T . PASS AnnotSV_ID=21_32729090_32729091_BND_1|21_32729090_32729091_BND_1;SV_chrom=21|21;SV_start=32729090|32729090;SV_end=32729091|32729091;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.11|q22.11;Gene_name=TIAM1|TIAM1;Gene_count=1.0|.;Tx=.|NM_001353688;Tx_start=.|32490735.0;Tx_end=.|32931400.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|30.0;Location=.|intron2-intron2;Location2=.|5'UTR;Dist_nearest_SS=.|17353.0;Nearest_SS_type=.|3';Intersect_start=.|32729090.0;Intersect_end=.|32729091.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163299,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:30214872-34896962|.;po_P_gain_percent=0.0|.;po_P_loss_phen=Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15120688,dbVar:nssv15123773,dbVar:nssv15124432,dbVar:nssv15136031,dbVar:nssv15137471,dbVar:nssv15138316,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15605918,dbVar:nssv16209005,morbid:TIAM1|.;po_P_loss_coord=21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:29880468-36062331,21:31711916-34632473,21:32490735-32931400,21:32578640-35060092,21:32589903-35359935,21:32711701-33683830|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.42|.;GC_content_right=0.42|.;Repeat_coord_left=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_left=MLT1A0,FLAM_C|.;Repeat_coord_right=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_right=MLT1A0,FLAM_C|.;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=14.65|14.65;ExAC_delZ=0.288490335258923|0.288490335258923;ExAC_dupZ=0.472679204619498|0.472679204619498;ExAC_cnvZ=0.468402076421416|0.468402076421416;ExAC_synZ=0.566126730500983|0.566126730500983;ExAC_misZ=2.26788931609128|2.26788931609128;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=600687.0|600687.0;OMIM_phenotype=.|Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR;OMIM_inheritance=.|AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.95662|0.95662;ExAC_pLI=0.99993|0.99993;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 32729151 17391eb c ]chr21:42880595]c . PASS AnnotSV_ID=21_32729151_32729152_BND_2|21_32729151_32729152_BND_2;SV_chrom=21|21;SV_start=32729151|32729151;SV_end=32729152|32729152;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.11|q22.11;Gene_name=TIAM1|TIAM1;Gene_count=1.0|.;Tx=.|NM_001353688;Tx_start=.|32490735.0;Tx_end=.|32931400.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|30.0;Location=.|intron2-intron2;Location2=.|5'UTR;Dist_nearest_SS=.|17414.0;Nearest_SS_type=.|3';Intersect_start=.|32729151.0;Intersect_end=.|32729152.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163299,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:30214872-34896962|.;po_P_gain_percent=0.0|.;po_P_loss_phen=Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15120688,dbVar:nssv15123773,dbVar:nssv15124432,dbVar:nssv15136031,dbVar:nssv15137471,dbVar:nssv15138316,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15605918,dbVar:nssv16209005,morbid:TIAM1|.;po_P_loss_coord=21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:29880468-36062331,21:31711916-34632473,21:32490735-32931400,21:32578640-35060092,21:32589903-35359935,21:32711701-33683830|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.49|.;GC_content_right=0.49|.;Repeat_coord_left=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_left=MLT1A0,FLAM_C|.;Repeat_coord_right=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_right=MLT1A0,FLAM_C|.;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=14.65|14.65;ExAC_delZ=0.288490335258923|0.288490335258923;ExAC_dupZ=0.472679204619498|0.472679204619498;ExAC_cnvZ=0.468402076421416|0.468402076421416;ExAC_synZ=0.566126730500983|0.566126730500983;ExAC_misZ=2.26788931609128|2.26788931609128;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=600687.0|600687.0;OMIM_phenotype=.|Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR;OMIM_inheritance=.|AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.95662|0.95662;ExAC_pLI=0.99993|0.99993;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 32729151 8cbdaa9 c ]chr21:42880512]c . PASS AnnotSV_ID=21_32729151_32729152_BND_1|21_32729151_32729152_BND_1;SV_chrom=21|21;SV_start=32729151|32729151;SV_end=32729152|32729152;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.11|q22.11;Gene_name=TIAM1|TIAM1;Gene_count=1.0|.;Tx=.|NM_001353688;Tx_start=.|32490735.0;Tx_end=.|32931400.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|30.0;Location=.|intron2-intron2;Location2=.|5'UTR;Dist_nearest_SS=.|17414.0;Nearest_SS_type=.|3';Intersect_start=.|32729151.0;Intersect_end=.|32729152.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163299,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:30214872-34896962|.;po_P_gain_percent=0.0|.;po_P_loss_phen=Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15120688,dbVar:nssv15123773,dbVar:nssv15124432,dbVar:nssv15136031,dbVar:nssv15137471,dbVar:nssv15138316,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15605918,dbVar:nssv16209005,morbid:TIAM1|.;po_P_loss_coord=21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:29880468-36062331,21:31711916-34632473,21:32490735-32931400,21:32578640-35060092,21:32589903-35359935,21:32711701-33683830|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.49|.;GC_content_right=0.49|.;Repeat_coord_left=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_left=MLT1A0,FLAM_C|.;Repeat_coord_right=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_right=MLT1A0,FLAM_C|.;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=14.65|14.65;ExAC_delZ=0.288490335258923|0.288490335258923;ExAC_dupZ=0.472679204619498|0.472679204619498;ExAC_cnvZ=0.468402076421416|0.468402076421416;ExAC_synZ=0.566126730500983|0.566126730500983;ExAC_misZ=2.26788931609128|2.26788931609128;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=600687.0|600687.0;OMIM_phenotype=.|Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR;OMIM_inheritance=.|AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.95662|0.95662;ExAC_pLI=0.99993|0.99993;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 32729151 cd91f49 c ]chr21:43189599]c . PASS AnnotSV_ID=21_32729151_32729152_BND_4|21_32729151_32729152_BND_4;SV_chrom=21|21;SV_start=32729151|32729151;SV_end=32729152|32729152;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.11|q22.11;Gene_name=TIAM1|TIAM1;Gene_count=1.0|.;Tx=.|NM_001353688;Tx_start=.|32490735.0;Tx_end=.|32931400.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|30.0;Location=.|intron2-intron2;Location2=.|5'UTR;Dist_nearest_SS=.|17414.0;Nearest_SS_type=.|3';Intersect_start=.|32729151.0;Intersect_end=.|32729152.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163299,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:30214872-34896962|.;po_P_gain_percent=0.0|.;po_P_loss_phen=Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15120688,dbVar:nssv15123773,dbVar:nssv15124432,dbVar:nssv15136031,dbVar:nssv15137471,dbVar:nssv15138316,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15605918,dbVar:nssv16209005,morbid:TIAM1|.;po_P_loss_coord=21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:29880468-36062331,21:31711916-34632473,21:32490735-32931400,21:32578640-35060092,21:32589903-35359935,21:32711701-33683830|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.49|.;GC_content_right=0.49|.;Repeat_coord_left=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_left=MLT1A0,FLAM_C|.;Repeat_coord_right=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_right=MLT1A0,FLAM_C|.;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=14.65|14.65;ExAC_delZ=0.288490335258923|0.288490335258923;ExAC_dupZ=0.472679204619498|0.472679204619498;ExAC_cnvZ=0.468402076421416|0.468402076421416;ExAC_synZ=0.566126730500983|0.566126730500983;ExAC_misZ=2.26788931609128|2.26788931609128;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=600687.0|600687.0;OMIM_phenotype=.|Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR;OMIM_inheritance=.|AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.95662|0.95662;ExAC_pLI=0.99993|0.99993;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 32729151 ce95555 c ]chr21:42880723]c . PASS AnnotSV_ID=21_32729151_32729152_BND_3|21_32729151_32729152_BND_3;SV_chrom=21|21;SV_start=32729151|32729151;SV_end=32729152|32729152;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.11|q22.11;Gene_name=TIAM1|TIAM1;Gene_count=1.0|.;Tx=.|NM_001353688;Tx_start=.|32490735.0;Tx_end=.|32931400.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|30.0;Location=.|intron2-intron2;Location2=.|5'UTR;Dist_nearest_SS=.|17414.0;Nearest_SS_type=.|3';Intersect_start=.|32729151.0;Intersect_end=.|32729152.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163299,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:30214872-34896962|.;po_P_gain_percent=0.0|.;po_P_loss_phen=Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15120688,dbVar:nssv15123773,dbVar:nssv15124432,dbVar:nssv15136031,dbVar:nssv15137471,dbVar:nssv15138316,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15605918,dbVar:nssv16209005,morbid:TIAM1|.;po_P_loss_coord=21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:29880468-36062331,21:31711916-34632473,21:32490735-32931400,21:32578640-35060092,21:32589903-35359935,21:32711701-33683830|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.49|.;GC_content_right=0.49|.;Repeat_coord_left=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_left=MLT1A0,FLAM_C|.;Repeat_coord_right=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_right=MLT1A0,FLAM_C|.;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=14.65|14.65;ExAC_delZ=0.288490335258923|0.288490335258923;ExAC_dupZ=0.472679204619498|0.472679204619498;ExAC_cnvZ=0.468402076421416|0.468402076421416;ExAC_synZ=0.566126730500983|0.566126730500983;ExAC_misZ=2.26788931609128|2.26788931609128;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=600687.0|600687.0;OMIM_phenotype=.|Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR;OMIM_inheritance=.|AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.95662|0.95662;ExAC_pLI=0.99993|0.99993;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 32729151 f16562c c ]chr21:43189619]c . PASS AnnotSV_ID=21_32729151_32729152_BND_5|21_32729151_32729152_BND_5;SV_chrom=21|21;SV_start=32729151|32729151;SV_end=32729152|32729152;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.11|q22.11;Gene_name=TIAM1|TIAM1;Gene_count=1.0|.;Tx=.|NM_001353688;Tx_start=.|32490735.0;Tx_end=.|32931400.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|30.0;Location=.|intron2-intron2;Location2=.|5'UTR;Dist_nearest_SS=.|17414.0;Nearest_SS_type=.|3';Intersect_start=.|32729151.0;Intersect_end=.|32729152.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163299,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:30214872-34896962|.;po_P_gain_percent=0.0|.;po_P_loss_phen=Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15120688,dbVar:nssv15123773,dbVar:nssv15124432,dbVar:nssv15136031,dbVar:nssv15137471,dbVar:nssv15138316,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15605918,dbVar:nssv16209005,morbid:TIAM1|.;po_P_loss_coord=21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:29880468-36062331,21:31711916-34632473,21:32490735-32931400,21:32578640-35060092,21:32589903-35359935,21:32711701-33683830|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.49|.;GC_content_right=0.49|.;Repeat_coord_left=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_left=MLT1A0,FLAM_C|.;Repeat_coord_right=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_right=MLT1A0,FLAM_C|.;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=14.65|14.65;ExAC_delZ=0.288490335258923|0.288490335258923;ExAC_dupZ=0.472679204619498|0.472679204619498;ExAC_cnvZ=0.468402076421416|0.468402076421416;ExAC_synZ=0.566126730500983|0.566126730500983;ExAC_misZ=2.26788931609128|2.26788931609128;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=600687.0|600687.0;OMIM_phenotype=.|Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR;OMIM_inheritance=.|AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.95662|0.95662;ExAC_pLI=0.99993|0.99993;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 32729152 6ad3473 t t[chr21:42880412[ . PASS AnnotSV_ID=21_32729152_32729153_BND_1|21_32729152_32729153_BND_1;SV_chrom=21|21;SV_start=32729152|32729152;SV_end=32729153|32729153;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.11|q22.11;Gene_name=TIAM1|TIAM1;Gene_count=1.0|.;Tx=.|NM_001353688;Tx_start=.|32490735.0;Tx_end=.|32931400.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|30.0;Location=.|intron2-intron2;Location2=.|5'UTR;Dist_nearest_SS=.|17415.0;Nearest_SS_type=.|3';Intersect_start=.|32729152.0;Intersect_end=.|32729153.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163299,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:30214872-34896962|.;po_P_gain_percent=0.0|.;po_P_loss_phen=Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15120688,dbVar:nssv15123773,dbVar:nssv15124432,dbVar:nssv15136031,dbVar:nssv15137471,dbVar:nssv15138316,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15605918,dbVar:nssv16209005,morbid:TIAM1|.;po_P_loss_coord=21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:29880468-36062331,21:31711916-34632473,21:32490735-32931400,21:32578640-35060092,21:32589903-35359935,21:32711701-33683830|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.49|.;GC_content_right=0.495|.;Repeat_coord_left=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_left=MLT1A0,FLAM_C|.;Repeat_coord_right=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_right=MLT1A0,FLAM_C|.;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=14.65|14.65;ExAC_delZ=0.288490335258923|0.288490335258923;ExAC_dupZ=0.472679204619498|0.472679204619498;ExAC_cnvZ=0.468402076421416|0.468402076421416;ExAC_synZ=0.566126730500983|0.566126730500983;ExAC_misZ=2.26788931609128|2.26788931609128;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=600687.0|600687.0;OMIM_phenotype=.|Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR;OMIM_inheritance=.|AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.95662|0.95662;ExAC_pLI=0.99993|0.99993;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 32729160 b1a47e2 g g[chr21:40730174[ . PASS AnnotSV_ID=21_32729160_32729161_BND_1|21_32729160_32729161_BND_1;SV_chrom=21|21;SV_start=32729160|32729160;SV_end=32729161|32729161;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.11|q22.11;Gene_name=TIAM1|TIAM1;Gene_count=1.0|.;Tx=.|NM_001353688;Tx_start=.|32490735.0;Tx_end=.|32931400.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|30.0;Location=.|intron2-intron2;Location2=.|5'UTR;Dist_nearest_SS=.|17423.0;Nearest_SS_type=.|3';Intersect_start=.|32729160.0;Intersect_end=.|32729161.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163299,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:30214872-34896962|.;po_P_gain_percent=0.0|.;po_P_loss_phen=Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15120688,dbVar:nssv15123773,dbVar:nssv15124432,dbVar:nssv15136031,dbVar:nssv15137471,dbVar:nssv15138316,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15605918,dbVar:nssv16209005,morbid:TIAM1|.;po_P_loss_coord=21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:29880468-36062331,21:31711916-34632473,21:32490735-32931400,21:32578640-35060092,21:32589903-35359935,21:32711701-33683830|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.505|.;GC_content_right=0.51|.;Repeat_coord_left=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_left=MLT1A0,FLAM_C|.;Repeat_coord_right=21:32728728-32729086,21:32729150-32729277|.;Repeat_type_right=MLT1A0,FLAM_C|.;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=14.65|14.65;ExAC_delZ=0.288490335258923|0.288490335258923;ExAC_dupZ=0.472679204619498|0.472679204619498;ExAC_cnvZ=0.468402076421416|0.468402076421416;ExAC_synZ=0.566126730500983|0.566126730500983;ExAC_misZ=2.26788931609128|2.26788931609128;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=600687.0|600687.0;OMIM_phenotype=.|Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR;OMIM_inheritance=.|AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.95662|0.95662;ExAC_pLI=0.99993|0.99993;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 32729204 573e171 g g[chr21:43189618[ . PASS AnnotSV_ID=21_32729204_32729205_BND_1|21_32729204_32729205_BND_1;SV_chrom=21|21;SV_start=32729204|32729204;SV_end=32729205|32729205;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.11|q22.11;Gene_name=TIAM1|TIAM1;Gene_count=1.0|.;Tx=.|NM_001353688;Tx_start=.|32490735.0;Tx_end=.|32931400.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|30.0;Location=.|intron2-intron2;Location2=.|5'UTR;Dist_nearest_SS=.|17467.0;Nearest_SS_type=.|3';Intersect_start=.|32729204.0;Intersect_end=.|32729205.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147289,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163299,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:30214872-34896962|.;po_P_gain_percent=0.0|.;po_P_loss_phen=Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15120688,dbVar:nssv15123773,dbVar:nssv15124432,dbVar:nssv15136031,dbVar:nssv15137471,dbVar:nssv15138316,dbVar:nssv15146956,dbVar:nssv15148957,dbVar:nssv15605918,dbVar:nssv16209005,morbid:TIAM1|.;po_P_loss_coord=21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:20795486-33213462,21:23103151-33757777,21:29880468-36062331,21:31711916-34632473,21:32490735-32931400,21:32578640-35060092,21:32589903-35359935,21:32711701-33683830|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.435|.;GC_content_right=0.435|.;Repeat_coord_left=21:32729150-32729277|.;Repeat_type_left=FLAM_C|.;Repeat_coord_right=21:32729150-32729277|.;Repeat_type_right=FLAM_C|.;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=14.65|14.65;ExAC_delZ=0.288490335258923|0.288490335258923;ExAC_dupZ=0.472679204619498|0.472679204619498;ExAC_cnvZ=0.468402076421416|0.468402076421416;ExAC_synZ=0.566126730500983|0.566126730500983;ExAC_misZ=2.26788931609128|2.26788931609128;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=600687.0|600687.0;OMIM_phenotype=.|Neurodevelopmental_disorder_with_language_delay_and_seizures,_619908_(3)_AR;OMIM_inheritance=.|AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.95662|0.95662;ExAC_pLI=0.99993|0.99993;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 36666550 8179baf C C[chr21:40410051[ . PASS AnnotSV_ID=21_36666550_36666551_BND_1;SV_chrom=21;SV_start=36666550;SV_end=36666551;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.12;Gene_name=.;Gene_count=0.0;Tx=.;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=RUNX1_(HI=3/morbid/RE=GH_Enhancer);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=dbVar:nssv15121196,dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15151893,dbVar:nssv15155613,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:33980213-42542987,21:34111831-48090258,21:34423268-48090317,21:35292816-36834601,21:35319225-48090972,21:36183329-42311538;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15136031,dbVar:nssv15145768,dbVar:nssv15146956,dbVar:nssv15148100,dbVar:nssv15148957,dbVar:nssv15774902,dbVar:nssv16214768,dbVar:nssv16214776,dbVar:nssv16214778,dbVar:nssv16214779,dbVar:nssv16214780,dbVar:nssv16867438,dbVar:nssv16867439,dbVar:nssv17955898;po_P_loss_coord=21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:35298070-36876005,21:35304341-36865875,21:35304355-36865958,21:35527952-44298520,21:36162250-48056450,21:36171549-37444277,21:36284364-37074805,21:36318516-37184936,21:36323351-37470324,21:36389492-37056053,21:36400658-36972948;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.445;GC_content_right=0.445;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=.;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=. GT 0/1 +21 36666874 8f85249 A ]chr21:40409718]A . PASS AnnotSV_ID=21_36666874_36666875_BND_1;SV_chrom=21;SV_start=36666874;SV_end=36666875;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.12;Gene_name=.;Gene_count=0.0;Tx=.;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=RUNX1_(HI=3/morbid/RE=GH_Enhancer);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=dbVar:nssv15121196,dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15151893,dbVar:nssv15155613,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:33980213-42542987,21:34111831-48090258,21:34423268-48090317,21:35292816-36834601,21:35319225-48090972,21:36183329-42311538;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15136031,dbVar:nssv15145768,dbVar:nssv15146956,dbVar:nssv15148100,dbVar:nssv15148957,dbVar:nssv15774902,dbVar:nssv16214768,dbVar:nssv16214776,dbVar:nssv16214778,dbVar:nssv16214779,dbVar:nssv16214780,dbVar:nssv16867438,dbVar:nssv16867439,dbVar:nssv17955898;po_P_loss_coord=21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:35298070-36876005,21:35304341-36865875,21:35304355-36865958,21:35527952-44298520,21:36162250-48056450,21:36171549-37444277,21:36284364-37074805,21:36318516-37184936,21:36323351-37470324,21:36389492-37056053,21:36400658-36972948;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.47;GC_content_right=0.465;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=.;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=. GT 0/1 +21 37134972 a8eb100 C ]chr21:29216730]C . PASS AnnotSV_ID=21_37134972_37134973_BND_1;SV_chrom=21;SV_start=37134972;SV_end=37134973;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.12;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15151893,dbVar:nssv15155613,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:33980213-42542987,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:36183329-42311538;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15132871,dbVar:nssv15136031,dbVar:nssv15145768,dbVar:nssv15146956,dbVar:nssv15148100,dbVar:nssv15148957,dbVar:nssv16214779,dbVar:nssv16214780,dbVar:nssv17955898;po_P_loss_coord=21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:36171549-37444277,21:36318516-37184936,21:36323351-37470324,21:36916169-41365265;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.325;GC_content_right=0.32;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=.;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=. GT 0/1 +21 37135313 f2f9428 A A[chr21:29261455[ . PASS AnnotSV_ID=21_37135313_37135314_BND_1;SV_chrom=21;SV_start=37135313;SV_end=37135314;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.12;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15151893,dbVar:nssv15155613,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261,dbVar:nssv17969265;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:29812033-39282854,21:33980213-42542987,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:36183329-42311538;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15132871,dbVar:nssv15136031,dbVar:nssv15145768,dbVar:nssv15146956,dbVar:nssv15148100,dbVar:nssv15148957,dbVar:nssv16214779,dbVar:nssv16214780,dbVar:nssv17955898;po_P_loss_coord=21:15451032-39025955,21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:36171549-37444277,21:36318516-37184936,21:36323351-37470324,21:36916169-41365265;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.3;GC_content_right=0.3;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=.;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=. GT 0/1 +21 40409718 4f257e7 T T[chr21:36666874[ . PASS AnnotSV_ID=21_40409718_40409719_BND_1;SV_chrom=21;SV_start=40409718;SV_end=40409719;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.2;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15151893,dbVar:nssv15155613,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:33980213-42542987,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:36183329-42311538,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15132871,dbVar:nssv15141370,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15150617,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv16208583,dbVar:nssv8639351;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:36916169-41365265,21:37839410-41427526,21:37914123-48097372,21:38176362-41901945,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.51;GC_content_right=0.505;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=.;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=. GT 0/1 +21 40410051 501be3f T ]chr21:36666550]T . PASS AnnotSV_ID=21_40410051_40410052_BND_1;SV_chrom=21;SV_start=40410051;SV_end=40410052;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.2;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15151893,dbVar:nssv15155613,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:33980213-42542987,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:36183329-42311538,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15132871,dbVar:nssv15141370,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15150617,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv16208583,dbVar:nssv8639351;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:36916169-41365265,21:37839410-41427526,21:37914123-48097372,21:38176362-41901945,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.58;GC_content_right=0.58;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=.;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=. GT 0/1 +21 40730174 b96f88e t ]chr21:32729160]t . PASS AnnotSV_ID=21_40730174_40730175_BND_1;SV_chrom=21;SV_start=40730174;SV_end=40730175;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.2;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15151893,dbVar:nssv15155613,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:33980213-42542987,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:36183329-42311538,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15132871,dbVar:nssv15141370,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15150617,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv16208583,dbVar:nssv8639351;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:36916169-41365265,21:37839410-41427526,21:37914123-48097372,21:38176362-41901945,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928;po_P_loss_percent=0.0;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=.;TAD_coordinate=21:40720001-41480000,21:40720001-41560000,21:40720001-41600000;ENCODE_experiment=ENCFF306YQN:ENCFF477VVJ:ENCFF569KNS;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.455;GC_content_right=0.46;Repeat_coord_left=21:40729872-40730206,21:40730212-40730279;Repeat_type_left=AluSx1,PRIMA41-int;Repeat_coord_right=21:40729872-40730206,21:40730212-40730279;Repeat_type_right=AluSx1,PRIMA41-int;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=.;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=. GT 0/1 +21 40730405 d3ebd55 t t[chr21:32729090[ . PASS AnnotSV_ID=21_40730405_40730406_BND_1;SV_chrom=21;SV_start=40730405;SV_end=40730406;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.2;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15151893,dbVar:nssv15155613,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:33980213-42542987,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:36183329-42311538,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15132871,dbVar:nssv15141370,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15150617,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv16208583,dbVar:nssv8639351;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:36916169-41365265,21:37839410-41427526,21:37914123-48097372,21:38176362-41901945,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928;po_P_loss_percent=0.0;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=.;TAD_coordinate=21:40720001-41480000,21:40720001-41560000,21:40720001-41600000;ENCODE_experiment=ENCFF306YQN:ENCFF477VVJ:ENCFF569KNS;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.475;GC_content_right=0.47;Repeat_coord_left=21:40730279-40730446,21:40730447-40731518;Repeat_type_left=AluSz,PRIMA41-int;Repeat_coord_right=21:40730279-40730446,21:40730447-40731518;Repeat_type_right=AluSz,PRIMA41-int;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=.;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=. GT 0/1 +21 41267524 db04d40 g g[chr21:32173840[ . PASS AnnotSV_ID=21_41267524_41267525_BND_1|21_41267524_41267525_BND_1;SV_chrom=21|21;SV_start=41267524|41267524;SV_end=41267525|41267525;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.2|q22.2;Gene_name=PCP4|PCP4;Gene_count=1.0|.;Tx=.|NM_006198;Tx_start=.|41239363.0;Tx_end=.|41301317.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|3.0;Location=.|intron1-intron1;Location2=.|CDS;Dist_nearest_SS=.|2875.0;Nearest_SS_type=.|3';Intersect_start=.|41267524.0;Intersect_end=.|41267525.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15151893,dbVar:nssv15155613,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:33980213-42542987,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:36183329-42311538,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723|.;po_P_gain_percent=0.0|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15132871,dbVar:nssv15141370,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv16208583,dbVar:nssv8639351|.;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:36916169-41365265,21:37839410-41427526,21:37914123-48097372,21:38176362-41901945,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.505|.;GC_content_right=0.505|.;Repeat_coord_left=21:41267443-41267636|.;Repeat_type_left=MIR|.;Repeat_coord_right=21:41267443-41267636|.;Repeat_type_right=MIR|.;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=37.82|37.82;ExAC_delZ=0.54224469154127|0.54224469154127;ExAC_dupZ=0.481925137479778|0.481925137479778;ExAC_cnvZ=0.68354454429003|0.68354454429003;ExAC_synZ=0.709897897425838|0.709897897425838;ExAC_misZ=0.410653189752827|0.410653189752827;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|9.0;GnomAD_pLI=0.0021696|0.0021696;ExAC_pLI=0.075104|0.075104;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 41267805 862fe02 C ]chr21:32173602]C . PASS AnnotSV_ID=21_41267805_41267806_BND_1|21_41267805_41267806_BND_1;SV_chrom=21|21;SV_start=41267805|41267805;SV_end=41267806|41267806;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.2|q22.2;Gene_name=PCP4|PCP4;Gene_count=1.0|.;Tx=.|NM_006198;Tx_start=.|41239363.0;Tx_end=.|41301317.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|3.0;Location=.|intron1-intron1;Location2=.|CDS;Dist_nearest_SS=.|2594.0;Nearest_SS_type=.|3';Intersect_start=.|41267805.0;Intersect_end=.|41267806.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15151893,dbVar:nssv15155613,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:33980213-42542987,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:36183329-42311538,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723|.;po_P_gain_percent=0.0|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15132871,dbVar:nssv15141370,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv16208583,dbVar:nssv8639351|.;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:36916169-41365265,21:37839410-41427526,21:37914123-48097372,21:38176362-41901945,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.415|.;GC_content_right=0.415|.;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=37.82|37.82;ExAC_delZ=0.54224469154127|0.54224469154127;ExAC_dupZ=0.481925137479778|0.481925137479778;ExAC_cnvZ=0.68354454429003|0.68354454429003;ExAC_synZ=0.709897897425838|0.709897897425838;ExAC_misZ=0.410653189752827|0.410653189752827;GenCC_disease=.|.;GenCC_moi=.|.;GenCC_classification=.|.;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|9.0;GnomAD_pLI=0.0021696|0.0021696;ExAC_pLI=0.075104|0.075104;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 41874351 7e1754b t ]chr21:45120234]t . PASS AnnotSV_ID=21_41874351_41874352_BND_1|21_41874351_41874352_BND_1;SV_chrom=21|21;SV_start=41874351|41874351;SV_end=41874352|41874352;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.2|q22.2;Gene_name=DSCAM|DSCAM;Gene_count=1.0|.;Tx=.|NM_001271534;Tx_start=.|41382925.0;Tx_end=.|42219084.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|33.0;Location=.|intron3-intron3;Location2=.|CDS;Dist_nearest_SS=.|133179.0;Nearest_SS_type=.|3';Intersect_start=.|41874351.0;Intersect_end=.|41874352.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15151893,dbVar:nssv15155613,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:33980213-42542987,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:36183329-42311538,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723|.;po_P_gain_percent=0.0|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=HI3:DSCAM,dbVar:nssv15125107,dbVar:nssv15141370,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583|.;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38176362-41901945,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41384343-42219039,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.39|.;GC_content_right=0.385|.;Repeat_coord_left=21:41873928-41874283,21:41874283-41874789|.;Repeat_type_left=Charlie4a,MLT1D|.;Repeat_coord_right=21:41873928-41874283,21:41874283-41874789|.;Repeat_type_right=Charlie4a,MLT1D|.;Gap_left=.|.;Gap_right=.|.;SegDup_left=.|.;SegDup_right=.|.;ENCODE_blacklist_left=.|.;ENCODE_blacklist_characteristics_left=.|.;ENCODE_blacklist_right=.|.;ENCODE_blacklist_characteristics_right=.|.;ACMG=.|.;HI=3.0|3.0;TS=.|0.0;DDD_HI_percent=11.07|11.07;ExAC_delZ=-2.62354415217069|-2.62354415217069;ExAC_dupZ=-2.3356336398638|-2.3356336398638;ExAC_cnvZ=-2.47162789907313|-2.47162789907313;ExAC_synZ=0.100153604029206|0.100153604029206;ExAC_misZ=4.4651724012205|4.4651724012205;GenCC_disease=.|autism_spectrum_disorder;GenCC_moi=.|AD;GenCC_classification=.|Moderate;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|0.0;GnomAD_pLI=1.0|1.0;ExAC_pLI=1.0|1.0;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 41874669 2123266 g g[chr21:45119953[ . PASS AnnotSV_ID=21_41874669_41874670_BND_1|21_41874669_41874670_BND_1;SV_chrom=21|21;SV_start=41874669|41874669;SV_end=41874670|41874670;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.2|q22.2;Gene_name=DSCAM|DSCAM;Gene_count=1.0|.;Tx=.|NM_001271534;Tx_start=.|41382925.0;Tx_end=.|42219084.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|33.0;Location=.|intron3-intron3;Location2=.|CDS;Dist_nearest_SS=.|133497.0;Nearest_SS_type=.|3';Intersect_start=.|41874669.0;Intersect_end=.|41874670.0;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15151893,dbVar:nssv15155613,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:33980213-42542987,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:36183329-42311538,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723|.;po_P_gain_percent=0.0|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=HI3:DSCAM,dbVar:nssv15125107,dbVar:nssv15141370,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583|.;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38176362-41901945,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41384343-42219039,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.425|.;GC_content_right=0.42|.;Repeat_coord_left=21:41874283-41874789|.;Repeat_type_left=MLT1D|.;Repeat_coord_right=21:41874283-41874789|.;Repeat_type_right=MLT1D|.;Gap_left=.|.;Gap_right=.|.;SegDup_left=.|.;SegDup_right=.|.;ENCODE_blacklist_left=.|.;ENCODE_blacklist_characteristics_left=.|.;ENCODE_blacklist_right=.|.;ENCODE_blacklist_characteristics_right=.|.;ACMG=.|.;HI=3.0|3.0;TS=.|0.0;DDD_HI_percent=11.07|11.07;ExAC_delZ=-2.62354415217069|-2.62354415217069;ExAC_dupZ=-2.3356336398638|-2.3356336398638;ExAC_cnvZ=-2.47162789907313|-2.47162789907313;ExAC_synZ=0.100153604029206|0.100153604029206;ExAC_misZ=4.4651724012205|4.4651724012205;GenCC_disease=.|autism_spectrum_disorder;GenCC_moi=.|AD;GenCC_classification=.|Moderate;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|0.0;GnomAD_pLI=1.0|1.0;ExAC_pLI=1.0|1.0;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 42880345 4e83c3e G ]chr21:43189415]G . PASS AnnotSV_ID=21_42880345_42880346_BND_1;SV_chrom=21;SV_start=42880345;SV_end=42880346;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.7;GC_content_right=0.7;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=.;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=. GT 0/1 +21 42880412 1f89bf3 A ]chr21:32729152]A . PASS AnnotSV_ID=21_42880412_42880413_BND_1;SV_chrom=21;SV_start=42880412;SV_end=42880413;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.695;GC_content_right=0.695;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=.;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=. GT 0/1 +21 42880499 648adcc G ]chr21:43189415]G . PASS AnnotSV_ID=21_42880499_42880500_BND_1;SV_chrom=21;SV_start=42880499;SV_end=42880500;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.695;GC_content_right=0.69;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=.;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=. GT 0/1 +21 42880512 2b98c14 C C[chr21:32729151[ . PASS AnnotSV_ID=21_42880512_42880513_BND_1;SV_chrom=21;SV_start=42880512;SV_end=42880513;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.7;GC_content_right=0.7;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=.;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=. GT 0/1 +21 42880555 a1cf26d G ]chr21:43189415]G . PASS AnnotSV_ID=21_42880555_42880556_BND_1;SV_chrom=21;SV_start=42880555;SV_end=42880556;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.685;GC_content_right=0.685;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=.;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=. GT 0/1 +21 42880587 00acc62 A ]chr21:43189470]A . PASS AnnotSV_ID=21_42880587_42880588_BND_1;SV_chrom=21;SV_start=42880587;SV_end=42880588;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.69;GC_content_right=0.69;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=.;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=. GT 0/1 +21 42880595 404d77d A A[chr21:32729151[ . PASS AnnotSV_ID=21_42880595_42880596_BND_1;SV_chrom=21;SV_start=42880595;SV_end=42880596;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.69;GC_content_right=0.69;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=.;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=. GT 0/1 +21 42880599 321081a C C[chr21:43189414[ . PASS AnnotSV_ID=21_42880599_42880600_BND_1;SV_chrom=21;SV_start=42880599;SV_end=42880600;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.69;GC_content_right=0.695;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=.;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=. GT 0/1 +21 42880607 2023ceb C ]chr21:43189454]C . PASS AnnotSV_ID=21_42880607_42880608_BND_1;SV_chrom=21;SV_start=42880607;SV_end=42880608;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.685;GC_content_right=0.69;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=.;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=. GT 0/1 +21 42880635 0664077 C ]chr21:43189415]C . PASS AnnotSV_ID=21_42880635_42880636_BND_1;SV_chrom=21;SV_start=42880635;SV_end=42880636;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.685;GC_content_right=0.68;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=.;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=. GT 0/1 +21 42880653 c6d511e C C[chr21:43189414[ . PASS AnnotSV_ID=21_42880653_42880654_BND_1;SV_chrom=21;SV_start=42880653;SV_end=42880654;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.65;GC_content_right=0.645;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=.;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=. GT 0/1 +21 42880664 30db284 C ]chr21:43189466]C . PASS AnnotSV_ID=21_42880664_42880665_BND_1;SV_chrom=21;SV_start=42880664;SV_end=42880665;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.62;GC_content_right=0.62;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=.;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=. GT 0/1 +21 42880687 9139bd0 T T[chr21:43189469[ . PASS AnnotSV_ID=21_42880687_42880688_BND_1;SV_chrom=21;SV_start=42880687;SV_end=42880688;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.6;GC_content_right=0.595;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=.;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=. GT 0/1 +21 42880707 3a9acd6 A A[chr21:43189453[ . PASS AnnotSV_ID=21_42880707_42880708_BND_1;SV_chrom=21;SV_start=42880707;SV_end=42880708;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.58;GC_content_right=0.575;Repeat_coord_left=21:42880803-42881195;Repeat_type_left=MER34C2;Repeat_coord_right=21:42880803-42881195;Repeat_type_right=MER34C2;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=.;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=. GT 0/1 +21 42880710 dda12fc A ]chr21:43189596]A . PASS AnnotSV_ID=21_42880710_42880711_BND_1;SV_chrom=21;SV_start=42880710;SV_end=42880711;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.57;GC_content_right=0.57;Repeat_coord_left=21:42880803-42881195;Repeat_type_left=MER34C2;Repeat_coord_right=21:42880803-42881195;Repeat_type_right=MER34C2;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=.;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=. GT 0/1 +21 42880723 7271bb2 T T[chr21:32729151[ . PASS AnnotSV_ID=21_42880723_42880724_BND_1;SV_chrom=21;SV_start=42880723;SV_end=42880724;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.555;GC_content_right=0.555;Repeat_coord_left=21:42880803-42881195;Repeat_type_left=MER34C2;Repeat_coord_right=21:42880803-42881195;Repeat_type_right=MER34C2;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=.;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=. GT 0/1 +21 42880735 e3cd2f9 G G[chr21:43189414[ . PASS AnnotSV_ID=21_42880735_42880736_BND_1;SV_chrom=21;SV_start=42880735;SV_end=42880736;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.555;GC_content_right=0.555;Repeat_coord_left=21:42880803-42881195;Repeat_type_left=MER34C2;Repeat_coord_right=21:42880803-42881195;Repeat_type_right=MER34C2;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=.;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=. GT 0/1 +21 42880764 8acb227 G G[chr21:43189465[ . PASS AnnotSV_ID=21_42880764_42880765_BND_1;SV_chrom=21;SV_start=42880764;SV_end=42880765;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.53;GC_content_right=0.525;Repeat_coord_left=21:42880803-42881195;Repeat_type_left=MER34C2;Repeat_coord_right=21:42880803-42881195;Repeat_type_right=MER34C2;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=.;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=. GT 0/1 +21 42880796 6420648 C C[chr21:43189595[ . PASS AnnotSV_ID=21_42880796_42880797_BND_1;SV_chrom=21;SV_start=42880796;SV_end=42880797;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15159761,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40353599-42940718,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.48;GC_content_right=0.475;Repeat_coord_left=21:42880803-42881195;Repeat_type_left=MER34C2;Repeat_coord_right=21:42880803-42881195;Repeat_type_right=MER34C2;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=.;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=. GT 0/1 +21 43189414 5893549 C ]chr21:42880599]C . PASS AnnotSV_ID=21_43189414_43189415_BND_1;SV_chrom=21;SV_start=43189414;SV_end=43189415;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.54;GC_content_right=0.54;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=.;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=. GT 0/1 +21 43189414 96e5021 C ]chr21:42880735]C . PASS AnnotSV_ID=21_43189414_43189415_BND_3;SV_chrom=21;SV_start=43189414;SV_end=43189415;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.54;GC_content_right=0.54;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=.;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=. GT 0/1 +21 43189414 bc33a89 C ]chr21:42880653]C . PASS AnnotSV_ID=21_43189414_43189415_BND_2;SV_chrom=21;SV_start=43189414;SV_end=43189415;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.54;GC_content_right=0.54;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=.;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=. GT 0/1 +21 43189415 9e4e860 C C[chr21:42880499[ . PASS AnnotSV_ID=21_43189415_43189416_BND_2;SV_chrom=21;SV_start=43189415;SV_end=43189416;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.54;GC_content_right=0.54;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=.;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=. GT 0/1 +21 43189415 9e5cc47 C C[chr21:42880555[ . PASS AnnotSV_ID=21_43189415_43189416_BND_3;SV_chrom=21;SV_start=43189415;SV_end=43189416;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.54;GC_content_right=0.54;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=.;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=. GT 0/1 +21 43189415 a7ddf89 C C[chr21:42880345[ . PASS AnnotSV_ID=21_43189415_43189416_BND_1;SV_chrom=21;SV_start=43189415;SV_end=43189416;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.54;GC_content_right=0.54;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=.;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=. GT 0/1 +21 43189415 ed1ead7 C C[chr21:42880635[ . PASS AnnotSV_ID=21_43189415_43189416_BND_4;SV_chrom=21;SV_start=43189415;SV_end=43189416;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.54;GC_content_right=0.54;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=.;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=. GT 0/1 +21 43189453 bdc34b5 G ]chr21:42880707]G . PASS AnnotSV_ID=21_43189453_43189454_BND_1;SV_chrom=21;SV_start=43189453;SV_end=43189454;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.59;GC_content_right=0.595;Repeat_coord_left=21:43189542-43189614;Repeat_type_left=G-rich;Repeat_coord_right=21:43189542-43189614;Repeat_type_right=G-rich;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=.;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=. GT 0/1 +21 43189454 5fad1f5 G G[chr21:42880607[ . PASS AnnotSV_ID=21_43189454_43189455_BND_1;SV_chrom=21;SV_start=43189454;SV_end=43189455;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.595;GC_content_right=0.59;Repeat_coord_left=21:43189542-43189614;Repeat_type_left=G-rich;Repeat_coord_right=21:43189542-43189614;Repeat_type_right=G-rich;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=.;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=. GT 0/1 +21 43189465 cbad866 T ]chr21:42880764]T . PASS AnnotSV_ID=21_43189465_43189466_BND_1;SV_chrom=21;SV_start=43189465;SV_end=43189466;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.595;GC_content_right=0.6;Repeat_coord_left=21:43189542-43189614;Repeat_type_left=G-rich;Repeat_coord_right=21:43189542-43189614;Repeat_type_right=G-rich;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=.;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=. GT 0/1 +21 43189466 1d381ae G G[chr21:42880664[ . PASS AnnotSV_ID=21_43189466_43189467_BND_1;SV_chrom=21;SV_start=43189466;SV_end=43189467;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.6;GC_content_right=0.605;Repeat_coord_left=21:43189542-43189614;Repeat_type_left=G-rich;Repeat_coord_right=21:43189542-43189614;Repeat_type_right=G-rich;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=.;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=. GT 0/1 +21 43189469 4f3b1c1 G ]chr21:42880687]G . PASS AnnotSV_ID=21_43189469_43189470_BND_1;SV_chrom=21;SV_start=43189469;SV_end=43189470;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.605;GC_content_right=0.605;Repeat_coord_left=21:43189542-43189614;Repeat_type_left=G-rich;Repeat_coord_right=21:43189542-43189614;Repeat_type_right=G-rich;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=.;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=. GT 0/1 +21 43189470 5682883 G G[chr21:42880587[ . PASS AnnotSV_ID=21_43189470_43189471_BND_1;SV_chrom=21;SV_start=43189470;SV_end=43189471;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.605;GC_content_right=0.605;Repeat_coord_left=21:43189542-43189614;Repeat_type_left=G-rich;Repeat_coord_right=21:43189542-43189614;Repeat_type_right=G-rich;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=.;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=. GT 0/1 +21 43189595 0d1f2fa a ]chr21:42880796]a . PASS AnnotSV_ID=21_43189595_43189596_BND_1;SV_chrom=21;SV_start=43189595;SV_end=43189596;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.63;GC_content_right=0.635;Repeat_coord_left=21:43189542-43189614;Repeat_type_left=G-rich;Repeat_coord_right=21:43189542-43189614;Repeat_type_right=G-rich;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=.;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=. GT 0/1 +21 43189596 63ac136 g g[chr21:42880710[ . PASS AnnotSV_ID=21_43189596_43189597_BND_1;SV_chrom=21;SV_start=43189596;SV_end=43189597;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.635;GC_content_right=0.63;Repeat_coord_left=21:43189542-43189614;Repeat_type_left=G-rich;Repeat_coord_right=21:43189542-43189614;Repeat_type_right=G-rich;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=.;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=. GT 0/1 +21 43189599 a881462 g g[chr21:32729151[ . PASS AnnotSV_ID=21_43189599_43189600_BND_1;SV_chrom=21;SV_start=43189599;SV_end=43189600;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.63;GC_content_right=0.63;Repeat_coord_left=21:43189542-43189614;Repeat_type_left=G-rich;Repeat_coord_right=21:43189542-43189614;Repeat_type_right=G-rich;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=.;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=. GT 0/1 +21 43189618 7da2533 G ]chr21:32729204]G . PASS AnnotSV_ID=21_43189618_43189619_BND_1;SV_chrom=21;SV_start=43189618;SV_end=43189619;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.615;GC_content_right=0.62;Repeat_coord_left=21:43189542-43189614;Repeat_type_left=G-rich;Repeat_coord_right=21:43189542-43189614;Repeat_type_right=G-rich;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=.;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=. GT 0/1 +21 43189619 460e4ef T T[chr21:32729151[ . PASS AnnotSV_ID=21_43189619_43189620_BND_1;SV_chrom=21;SV_start=43189619;SV_end=43189620;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=RIPK4_(morbid/RE=GH_Promoter/Enhancer);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=dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15146957,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147949,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-44391157,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:39841248-44652723,21:42044877-48100155,21:43010560-48093051;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145768,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146331,dbVar:nssv15146334,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15148100,dbVar:nssv15148390,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15153926,dbVar:nssv15161234,dbVar:nssv15605827,dbVar:nssv16208583,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:35527952-44298520,21:36162250-48056450,21:37914123-48097372,21:38508038-43854625,21:38699545-48097372,21:38790552-43619940,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40364245-44169928,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.62;GC_content_right=0.62;Repeat_coord_left=21:43189542-43189614;Repeat_type_left=G-rich;Repeat_coord_right=21:43189542-43189614;Repeat_type_right=G-rich;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=.;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=. GT 0/1 +21 44796146 4784395 G G[chr21:47544437[ . PASS AnnotSV_ID=21_44796146_44796147_BND_1;SV_chrom=21;SV_start=44796146;SV_end=44796147;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=CRYAA_(morbid/RE=GH_Enhancer),SIK1_(morbid/RE=GH_Enhancer);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=dbVar:nssv15124227,dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:42044877-48100155,21:43010560-48093051,21:43407305-48119895;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146192,dbVar:nssv15146331,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15147948,dbVar:nssv15148100,dbVar:nssv15148217,dbVar:nssv15148241,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15150726,dbVar:nssv15152502,dbVar:nssv15153926,dbVar:nssv15605827,dbVar:nssv15777233,dbVar:nssv15777255,dbVar:nssv15777465,dbVar:nssv16208583,dbVar:nssv16208585,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:36162250-48056450,21:37914123-48097372,21:38699545-48097372,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240,21:43472147-48097372,21:43498966-48097372,21:43549809-48090972,21:43653036-48090317,21:43687353-48097372,21:43756585-46240105,21:43892908-45629566,21:44310057-47503155,21:44333323-48090317,21:44491278-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.63;GC_content_right=0.63;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=.;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=. GT 0/1 +21 44796411 b7b4e2d G ]chr21:47544774]G . PASS AnnotSV_ID=21_44796411_44796412_BND_1;SV_chrom=21;SV_start=44796411;SV_end=44796412;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=CRYAA_(morbid/RE=GH_Enhancer),SIK1_(morbid/RE=GH_Enhancer);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=dbVar:nssv15124227,dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:42044877-48100155,21:43010560-48093051,21:43407305-48119895;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146192,dbVar:nssv15146331,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15147948,dbVar:nssv15148100,dbVar:nssv15148217,dbVar:nssv15148241,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15150726,dbVar:nssv15152502,dbVar:nssv15153926,dbVar:nssv15605827,dbVar:nssv15777233,dbVar:nssv15777255,dbVar:nssv15777465,dbVar:nssv16208583,dbVar:nssv16208585,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:36162250-48056450,21:37914123-48097372,21:38699545-48097372,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240,21:43472147-48097372,21:43498966-48097372,21:43549809-48090972,21:43653036-48090317,21:43687353-48097372,21:43756585-46240105,21:43892908-45629566,21:44310057-47503155,21:44333323-48090317,21:44491278-48090317;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.66;GC_content_right=0.665;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=.;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=. GT 0/1 +21 45119953 6192165 A ]chr21:41874669]A . PASS AnnotSV_ID=21_45119953_45119954_BND_1;SV_chrom=21;SV_start=45119953;SV_end=45119954;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15124227,dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15160828,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:42044877-48100155,21:43010560-48093051,21:43407305-48119895,21:44823321-48093849;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146192,dbVar:nssv15146331,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15147948,dbVar:nssv15148100,dbVar:nssv15148217,dbVar:nssv15148241,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15150726,dbVar:nssv15152502,dbVar:nssv15153926,dbVar:nssv15605827,dbVar:nssv15777233,dbVar:nssv15777255,dbVar:nssv15777465,dbVar:nssv16208583,dbVar:nssv16208585,dbVar:nssv16211808,dbVar:nssv16213021,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:36162250-48056450,21:37914123-48097372,21:38699545-48097372,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240,21:43472147-48097372,21:43498966-48097372,21:43549809-48090972,21:43653036-48090317,21:43687353-48097372,21:43756585-46240105,21:43892908-45629566,21:44310057-47503155,21:44333323-48090317,21:44491278-48090317,21:44836602-45629566,21:44838120-45629566;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.575;GC_content_right=0.575;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=.;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=. GT 0/1 +21 45120234 e4dafba A A[chr21:41874351[ . PASS AnnotSV_ID=21_45120234_45120235_BND_1;SV_chrom=21;SV_start=45120234;SV_end=45120235;SV_length=.;SV_type=BND;Samples_ID=chromo.vcf;FORMAT=GT;chromo.vcf=0/1;Annotation_mode=full;CytoBand=q22.3;Gene_name=.;Gene_count=0.0;Tx=.;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=dbVar:nssv15124227,dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15160828,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:42044877-48100155,21:43010560-48093051,21:43407305-48119895,21:44823321-48093849;po_P_gain_percent=0.0;po_P_loss_phen=.;po_P_loss_hpo=.;po_P_loss_source=dbVar:nssv15125107,dbVar:nssv15145885,dbVar:nssv15146034,dbVar:nssv15146192,dbVar:nssv15146331,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147479,dbVar:nssv15147948,dbVar:nssv15148100,dbVar:nssv15148217,dbVar:nssv15148241,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15150726,dbVar:nssv15152502,dbVar:nssv15153926,dbVar:nssv15605827,dbVar:nssv15777233,dbVar:nssv15777255,dbVar:nssv15777465,dbVar:nssv16208583,dbVar:nssv16208585,dbVar:nssv16211808,dbVar:nssv16213021,dbVar:nssv17969275,dbVar:nssv17971543;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:36162250-48056450,21:37914123-48097372,21:38699545-48097372,21:39041930-48090972,21:39410438-45171756,21:40188323-48097372,21:40747863-45666031,21:41254101-48097372,21:41537095-46914745,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240,21:43472147-48097372,21:43498966-48097372,21:43549809-48090972,21:43653036-48090317,21:43687353-48097372,21:43756585-46240105,21:43892908-45629566,21:44310057-47503155,21:44333323-48090317,21:44491278-48090317,21:44836602-45629566,21:44838120-45629566;po_P_loss_percent=0.0;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=.;TAD_coordinate=.;ENCODE_experiment=.;Cosmic_ID=.;Cosmic_mut_typ=.;GC_content_left=0.525;GC_content_right=0.53;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=.;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=. GT 0/1 +21 46927927 533eb69 g g[chr21:16708573[ . PASS AnnotSV_ID=21_46927927_46927928_BND_1|21_46927927_46927928_BND_1;SV_chrom=21|21;SV_start=46927927|46927927;SV_end=46927928|46927928;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.3|q22.3;Gene_name=COL18A1|COL18A1;Gene_count=1.0|.;Tx=.|NM_001379500;Tx_start=.|46825079.0;Tx_end=.|46933634.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|42.0;Location=.|intron38-intron38;Location2=.|CDS;Dist_nearest_SS=.|420.0;Nearest_SS_type=.|5';Intersect_start=.|46927927.0;Intersect_end=.|46927928.0;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=dbVar:nssv15124227,dbVar:nssv15125249,dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15160828,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:42044877-48100155,21:43010560-48093051,21:43407305-48119895,21:44823321-48093849,21:46682125-48090317|.;po_P_gain_percent=0.0|.;po_P_loss_phen=Glaucoma,_primary_closed-angle,_618880_(3)_AD,Knobloch_syndrome,_type_1,_267750_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15124545,nssv15131707,dbVar:nssv15125107,dbVar:nssv15127724,dbVar:nssv15141128,dbVar:nssv15145885,dbVar:nssv15146192,dbVar:nssv15146331,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147138,dbVar:nssv15147141,dbVar:nssv15147479,dbVar:nssv15147948,dbVar:nssv15148100,dbVar:nssv15148217,dbVar:nssv15148241,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15150726,dbVar:nssv15152502,dbVar:nssv15153926,dbVar:nssv15161965,dbVar:nssv15777255,dbVar:nssv16208585,dbVar:nssv16208588,dbVar:nssv16208590,dbVar:nssv17969275,dbVar:nssv17969279,dbVar:nssv17969280,dbVar:nssv17970860,dbVar:nssv17971543,morbid:COL18A1|.;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:36162250-48056450,21:37914123-48097372,21:38699545-48097372,21:39041930-48090972,21:40188323-48097372,21:41254101-48097372,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240,21:43472147-48097372,21:43498966-48097372,21:43549809-48090972,21:43653036-48090317,21:43687353-48097372,21:44310057-47503155,21:44333323-48090317,21:44491278-48090317,21:45265857-47057233,21:45490774-48097372,21:45773272-48097372,21:45814926-48090317,21:45821582-47383056,21:45919666-47865240,21:46363553-48080926,21:46530392-48067924,21:46558236-48090317,21:46749869-48097372,21:46761738-48119895,21:46875435-46933634|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=21:46920001-47440000,21:46920001-47520000|21:46920001-47440000,21:46920001-47520000;ENCODE_experiment=ENCFF248DGB:ENCFF336WPU:ENCFF879NDS|ENCFF248DGB:ENCFF336WPU:ENCFF879NDS;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.555|.;GC_content_right=0.555|.;Repeat_coord_left=21:46927877-46928456|.;Repeat_type_left=(TGGG)n|.;Repeat_coord_right=21:46927877-46928456|.;Repeat_type_right=(TGGG)n|.;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=64.02|64.02;ExAC_delZ=-0.788702381587115|-0.788702381587115;ExAC_dupZ=-2.53125239294469|-2.53125239294469;ExAC_cnvZ=-2.15849735806265|-2.15849735806265;ExAC_synZ=-2.92792217310376|-2.92792217310376;ExAC_misZ=-1.59490815814651|-1.59490815814651;GenCC_disease=.|Knobloch_syndrome;GenCC_moi=.|AR;GenCC_classification=.|Definitive,Strong,Supportive;GenCC_pmid=.|10942434,12415512,12766032,21862674[PMID]_15714516[PMID];OMIM_ID=120328.0|120328.0;OMIM_phenotype=.|Glaucoma,_primary_closed-angle,_618880_(3)_AD,Knobloch_syndrome,_type_1,_267750_(3)_AR;OMIM_inheritance=.|AD,AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|2.0;GnomAD_pLI=1.7414e-10|1.7414e-10;ExAC_pLI=1.2377e-05|1.2377e-05;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 46928255 4d43585 g ]chr21:16708382]g . PASS AnnotSV_ID=21_46928255_46928256_BND_1|21_46928255_46928256_BND_1;SV_chrom=21|21;SV_start=46928255|46928255;SV_end=46928256|46928256;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.3|q22.3;Gene_name=COL18A1|COL18A1;Gene_count=1.0|.;Tx=.|NM_001379500;Tx_start=.|46825079.0;Tx_end=.|46933634.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|42.0;Location=.|intron38-intron38;Location2=.|CDS;Dist_nearest_SS=.|748.0;Nearest_SS_type=.|5';Intersect_start=.|46928255.0;Intersect_end=.|46928256.0;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=dbVar:nssv15124227,dbVar:nssv15125249,dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15160828,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:42044877-48100155,21:43010560-48093051,21:43407305-48119895,21:44823321-48093849,21:46682125-48090317|.;po_P_gain_percent=0.0|.;po_P_loss_phen=Glaucoma,_primary_closed-angle,_618880_(3)_AD,Knobloch_syndrome,_type_1,_267750_(3)_AR|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15124545,nssv15131707,dbVar:nssv15125107,dbVar:nssv15127724,dbVar:nssv15141128,dbVar:nssv15145885,dbVar:nssv15146192,dbVar:nssv15146331,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147138,dbVar:nssv15147141,dbVar:nssv15147479,dbVar:nssv15147948,dbVar:nssv15148100,dbVar:nssv15148217,dbVar:nssv15148241,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15150726,dbVar:nssv15152502,dbVar:nssv15153926,dbVar:nssv15161965,dbVar:nssv15777255,dbVar:nssv16208585,dbVar:nssv16208588,dbVar:nssv16208590,dbVar:nssv17969275,dbVar:nssv17969279,dbVar:nssv17969280,dbVar:nssv17970860,dbVar:nssv17971543,morbid:COL18A1|.;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:36162250-48056450,21:37914123-48097372,21:38699545-48097372,21:39041930-48090972,21:40188323-48097372,21:41254101-48097372,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240,21:43472147-48097372,21:43498966-48097372,21:43549809-48090972,21:43653036-48090317,21:43687353-48097372,21:44310057-47503155,21:44333323-48090317,21:44491278-48090317,21:45265857-47057233,21:45490774-48097372,21:45773272-48097372,21:45814926-48090317,21:45821582-47383056,21:45919666-47865240,21:46363553-48080926,21:46530392-48067924,21:46558236-48090317,21:46749869-48097372,21:46761738-48119895,21:46875435-46933634|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=21:46920001-47440000,21:46920001-47520000|21:46920001-47440000,21:46920001-47520000;ENCODE_experiment=ENCFF248DGB:ENCFF336WPU:ENCFF879NDS|ENCFF248DGB:ENCFF336WPU:ENCFF879NDS;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.56|.;GC_content_right=0.56|.;Repeat_coord_left=21:46927877-46928456|.;Repeat_type_left=(TGGG)n|.;Repeat_coord_right=21:46927877-46928456|.;Repeat_type_right=(TGGG)n|.;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=64.02|64.02;ExAC_delZ=-0.788702381587115|-0.788702381587115;ExAC_dupZ=-2.53125239294469|-2.53125239294469;ExAC_cnvZ=-2.15849735806265|-2.15849735806265;ExAC_synZ=-2.92792217310376|-2.92792217310376;ExAC_misZ=-1.59490815814651|-1.59490815814651;GenCC_disease=.|Knobloch_syndrome;GenCC_moi=.|AR;GenCC_classification=.|Definitive,Strong,Supportive;GenCC_pmid=.|10942434,12415512,12766032,21862674[PMID]_15714516[PMID];OMIM_ID=120328.0|120328.0;OMIM_phenotype=.|Glaucoma,_primary_closed-angle,_618880_(3)_AD,Knobloch_syndrome,_type_1,_267750_(3)_AR;OMIM_inheritance=.|AD,AR;OMIM_morbid=yes|yes;OMIM_morbid_candidate=.|.;LOEUF_bin=.|2.0;GnomAD_pLI=1.7414e-10|1.7414e-10;ExAC_pLI=1.2377e-05|1.2377e-05;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 47544437 9fe0e7e C ]chr21:44796146]C . PASS AnnotSV_ID=21_47544437_47544438_BND_1|21_47544437_47544438_BND_1;SV_chrom=21|21;SV_start=47544437|47544437;SV_end=47544438|47544438;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.3|q22.3;Gene_name=COL6A2|COL6A2;Gene_count=1.0|.;Tx=.|NM_058174;Tx_start=.|47518025.0;Tx_end=.|47549715.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|28.0;Location=.|intron21-intron21;Location2=.|CDS;Dist_nearest_SS=.|126.0;Nearest_SS_type=.|3';Intersect_start=.|47544437.0;Intersect_end=.|47544438.0;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=dbVar:nssv15124227,dbVar:nssv15125249,dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15160828,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163592,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:42044877-48100155,21:43010560-48093051,21:43407305-48119895,21:44823321-48093849,21:46682125-48090317,21:47494789-48117896|.;po_P_gain_percent=0.0|.;po_P_loss_phen=?Myosclerosis,_congenital,_255600_(3)_AR,Bethlem_myopathy_1,_158810_(3)_AR,AD,Ullrich_congenital_muscular_dystrophy_1,_254090_(3)_AR,AD|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15124448,dbVar:nssv15124545,nssv15131707,dbVar:nssv15125107,dbVar:nssv15127724,dbVar:nssv15134331,dbVar:nssv15141128,dbVar:nssv15141619,dbVar:nssv15145885,dbVar:nssv15146192,dbVar:nssv15146331,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147138,dbVar:nssv15147141,dbVar:nssv15147479,dbVar:nssv15147948,dbVar:nssv15148100,dbVar:nssv15148217,dbVar:nssv15148241,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15150726,dbVar:nssv15152502,dbVar:nssv15153926,dbVar:nssv15154214,dbVar:nssv16208585,dbVar:nssv16208588,dbVar:nssv16208590,dbVar:nssv17969275,dbVar:nssv17969280,dbVar:nssv17970860,dbVar:nssv17971043,dbVar:nssv17971543,morbid:COL6A2|.;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:36162250-48056450,21:37914123-48097372,21:38699545-48097372,21:39041930-48090972,21:40188323-48097372,21:41254101-48097372,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240,21:43472147-48097372,21:43498966-48097372,21:43549809-48090972,21:43653036-48090317,21:43687353-48097372,21:44333323-48090317,21:44491278-48090317,21:45490774-48097372,21:45773272-48097372,21:45814926-48090317,21:45919666-47865240,21:46363553-48080926,21:46530392-48067924,21:46558236-48090317,21:46749869-48097372,21:46761738-48119895,21:46955240-48080867,21:47221774-48090317,21:47401745-47552486,21:47401765-47705200,21:47516746-47556220,21:47518032-47549719|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.655|.;GC_content_right=0.65|.;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=55.42|55.42;ExAC_delZ=-2.62354415217069|-2.62354415217069;ExAC_dupZ=-2.03032752377711|-2.03032752377711;ExAC_cnvZ=-2.31351205236849|-2.31351205236849;ExAC_synZ=-2.92324972633114|-2.92324972633114;ExAC_misZ=-0.500739314580349|-0.500739314580349;GenCC_disease=.|Bethlem_myopathy,Bethlem_myopathy_1,Ullrich_congenital_muscular_dystrophy,Ullrich_congenital_muscular_dystrophy_1,collagen_6-related_myopathy,myosclerosis;GenCC_moi=.|AD,AR,sD;GenCC_classification=.|Definitive,Strong,Supportive;GenCC_pmid=.|18366090[PMID]_20301676[PMID],18852439[PMID],20301676[PMID];OMIM_ID=120240.0|120240.0;OMIM_phenotype=.|?Myosclerosis,_congenital,_255600_(3)_AR,Bethlem_myopathy_1,_158810_(3)_AR,AD,Ullrich_congenital_muscular_dystrophy_1,_254090_(3)_AR,AD;OMIM_inheritance=.|AR,AR,AD;OMIM_morbid=yes|yes;OMIM_morbid_candidate=yes|yes;LOEUF_bin=.|2.0;GnomAD_pLI=6.5112e-08|6.5112e-08;ExAC_pLI=0.0021338|0.0021338;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 47544774 788d8da C C[chr21:44796411[ . PASS AnnotSV_ID=21_47544774_47544775_BND_1|21_47544774_47544775_BND_1;SV_chrom=21|21;SV_start=47544774|47544774;SV_end=47544775|47544775;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.3|q22.3;Gene_name=COL6A2|COL6A2;Gene_count=1.0|.;Tx=.|NM_058174;Tx_start=.|47518025.0;Tx_end=.|47549715.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|28.0;Location=.|intron22-intron22;Location2=.|CDS;Dist_nearest_SS=.|23.0;Nearest_SS_type=.|3';Intersect_start=.|47544774.0;Intersect_end=.|47544775.0;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=dbVar:nssv15124227,dbVar:nssv15125249,dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15160828,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163592,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:42044877-48100155,21:43010560-48093051,21:43407305-48119895,21:44823321-48093849,21:46682125-48090317,21:47494789-48117896|.;po_P_gain_percent=0.0|.;po_P_loss_phen=?Myosclerosis,_congenital,_255600_(3)_AR,Bethlem_myopathy_1,_158810_(3)_AR,AD,Ullrich_congenital_muscular_dystrophy_1,_254090_(3)_AR,AD|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15124448,dbVar:nssv15124545,nssv15131707,dbVar:nssv15125107,dbVar:nssv15127724,dbVar:nssv15134331,dbVar:nssv15141128,dbVar:nssv15141619,dbVar:nssv15145885,dbVar:nssv15146192,dbVar:nssv15146331,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147138,dbVar:nssv15147141,dbVar:nssv15147479,dbVar:nssv15147948,dbVar:nssv15148100,dbVar:nssv15148217,dbVar:nssv15148241,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15150726,dbVar:nssv15152502,dbVar:nssv15153926,dbVar:nssv15154214,dbVar:nssv16208585,dbVar:nssv16208588,dbVar:nssv16208590,dbVar:nssv17969275,dbVar:nssv17969280,dbVar:nssv17970860,dbVar:nssv17971043,dbVar:nssv17971543,morbid:COL6A2|.;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:36162250-48056450,21:37914123-48097372,21:38699545-48097372,21:39041930-48090972,21:40188323-48097372,21:41254101-48097372,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43160998-47865240,21:43472147-48097372,21:43498966-48097372,21:43549809-48090972,21:43653036-48090317,21:43687353-48097372,21:44333323-48090317,21:44491278-48090317,21:45490774-48097372,21:45773272-48097372,21:45814926-48090317,21:45919666-47865240,21:46363553-48080926,21:46530392-48067924,21:46558236-48090317,21:46749869-48097372,21:46761738-48119895,21:46955240-48080867,21:47221774-48090317,21:47401745-47552486,21:47401765-47705200,21:47516746-47556220,21:47518032-47549719|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.645|.;GC_content_right=0.65|.;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=55.42|55.42;ExAC_delZ=-2.62354415217069|-2.62354415217069;ExAC_dupZ=-2.03032752377711|-2.03032752377711;ExAC_cnvZ=-2.31351205236849|-2.31351205236849;ExAC_synZ=-2.92324972633114|-2.92324972633114;ExAC_misZ=-0.500739314580349|-0.500739314580349;GenCC_disease=.|Bethlem_myopathy,Bethlem_myopathy_1,Ullrich_congenital_muscular_dystrophy,Ullrich_congenital_muscular_dystrophy_1,collagen_6-related_myopathy,myosclerosis;GenCC_moi=.|AD,AR,sD;GenCC_classification=.|Definitive,Strong,Supportive;GenCC_pmid=.|18366090[PMID]_20301676[PMID],18852439[PMID],20301676[PMID];OMIM_ID=120240.0|120240.0;OMIM_phenotype=.|?Myosclerosis,_congenital,_255600_(3)_AR,Bethlem_myopathy_1,_158810_(3)_AR,AD,Ullrich_congenital_muscular_dystrophy_1,_254090_(3)_AR,AD;OMIM_inheritance=.|AR,AR,AD;OMIM_morbid=yes|yes;OMIM_morbid_candidate=yes|yes;LOEUF_bin=.|2.0;GnomAD_pLI=6.5112e-08|6.5112e-08;ExAC_pLI=0.0021338|0.0021338;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 47889833 b014ee7 G G[chr21:21444957[ . PASS AnnotSV_ID=21_47889833_47889834_BND_1|21_47889833_47889834_BND_1;SV_chrom=21|21;SV_start=47889833|47889833;SV_end=47889834|47889834;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.3|q22.3;Gene_name=DIP2A|DIP2A;Gene_count=1.0|.;Tx=.|NM_206891;Tx_start=.|47878803.0;Tx_end=.|47966219.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|20.0;Location=.|intron1-intron1;Location2=.|CDS;Dist_nearest_SS=.|10698.0;Nearest_SS_type=.|5';Intersect_start=.|47889833.0;Intersect_end=.|47889834.0;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=dbVar:nssv15124227,dbVar:nssv15125249,dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15160828,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163592,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:42044877-48100155,21:43010560-48093051,21:43407305-48119895,21:44823321-48093849,21:46682125-48090317,21:47494789-48117896|.;po_P_gain_percent=0.0|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15124545,nssv15131707,dbVar:nssv15124556,dbVar:nssv15125107,dbVar:nssv15127724,dbVar:nssv15134331,dbVar:nssv15141128,dbVar:nssv15141619,dbVar:nssv15145885,dbVar:nssv15146192,dbVar:nssv15146331,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147138,dbVar:nssv15147141,dbVar:nssv15147479,dbVar:nssv15147948,dbVar:nssv15148100,dbVar:nssv15148217,dbVar:nssv15148241,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15150726,dbVar:nssv15152502,dbVar:nssv15153926,dbVar:nssv16208585,dbVar:nssv16208588,dbVar:nssv16208590,dbVar:nssv17969275,dbVar:nssv17969280|.;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:36162250-48056450,21:37914123-48097372,21:38699545-48097372,21:39041930-48090972,21:40188323-48097372,21:41254101-48097372,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43472147-48097372,21:43498966-48097372,21:43549809-48090972,21:43653036-48090317,21:43687353-48097372,21:44333323-48090317,21:44491278-48090317,21:45490774-48097372,21:45773272-48097372,21:45814926-48090317,21:46363553-48080926,21:46530392-48067924,21:46558236-48090317,21:46749869-48097372,21:46761738-48119895,21:46955240-48080867,21:47221774-48090317,21:47550596-48080926|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.385|.;GC_content_right=0.385|.;Repeat_coord_left=21:47889471-47889763|.;Repeat_type_left=LTR16B2|.;Repeat_coord_right=21:47889471-47889763|.;Repeat_type_right=LTR16B2|.;Gap_left=.|.;Gap_right=.|.;SegDup_left=.|.;SegDup_right=.|.;ENCODE_blacklist_left=.|.;ENCODE_blacklist_characteristics_left=.|.;ENCODE_blacklist_right=.|.;ENCODE_blacklist_characteristics_right=.|.;ACMG=.|.;HI=1.0|1.0;TS=.|0.0;DDD_HI_percent=58.86|58.86;ExAC_delZ=-1.88479703027366|-1.88479703027366;ExAC_dupZ=-2.53125239294469|-2.53125239294469;ExAC_cnvZ=-2.35568313668249|-2.35568313668249;ExAC_synZ=-0.076406278089376|-0.076406278089376;ExAC_misZ=2.69204010110863|2.69204010110863;GenCC_disease=.|autism_spectrum_disorder;GenCC_moi=.|AD;GenCC_classification=.|Limited;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.11301|0.11301;ExAC_pLI=0.7261|0.7261;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 +21 47889938 ab96dd7 T ]chr21:21445361]T . PASS AnnotSV_ID=21_47889938_47889939_BND_1|21_47889938_47889939_BND_1;SV_chrom=21|21;SV_start=47889938|47889938;SV_end=47889939|47889939;SV_length=.|.;SV_type=BND|BND;Samples_ID=chromo.vcf|chromo.vcf;FORMAT=GT|GT;chromo.vcf=0/1|0/1;Annotation_mode=full&split;CytoBand=q22.3|q22.3;Gene_name=DIP2A|DIP2A;Gene_count=1.0|.;Tx=.|NM_206891;Tx_start=.|47878803.0;Tx_end=.|47966219.0;Overlapped_tx_length=.|1.0;Overlapped_CDS_length=.|0.0;Overlapped_CDS_percent=.|0.0;Frameshift=.|no;Exon_count=.|20.0;Location=.|intron1-intron1;Location2=.|CDS;Dist_nearest_SS=.|10803.0;Nearest_SS_type=.|5';Intersect_start=.|47889938.0;Intersect_end=.|47889939.0;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=dbVar:nssv15124227,dbVar:nssv15125249,dbVar:nssv15125441,dbVar:nssv15129056,dbVar:nssv15145650,nssv15146803,dbVar:nssv15145786,dbVar:nssv15145787,dbVar:nssv15145788,dbVar:nssv15145792,dbVar:nssv15145793,dbVar:nssv15145794,dbVar:nssv15145903,dbVar:nssv15145950,dbVar:nssv15145977,dbVar:nssv15146446,dbVar:nssv15146648,dbVar:nssv15146752,dbVar:nssv15147265,dbVar:nssv15147268,dbVar:nssv15147273,dbVar:nssv15147280,dbVar:nssv15147289,dbVar:nssv15147362,dbVar:nssv15147367,dbVar:nssv15147451,dbVar:nssv15147703,dbVar:nssv15147989,dbVar:nssv15148027,dbVar:nssv15148074,dbVar:nssv15148853,dbVar:nssv15148994,nssv15777259,nssv17956911,nssv17969259,dbVar:nssv15149002,nssv15150236,dbVar:nssv15149644,dbVar:nssv15160828,dbVar:nssv15161150,dbVar:nssv15161153,dbVar:nssv15162844,dbVar:nssv15163276,dbVar:nssv15163592,dbVar:nssv15606132,dbVar:nssv16209034,dbVar:nssv16254725,dbVar:nssv17955538,dbVar:nssv17969260,dbVar:nssv17969261|.;po_P_gain_coord=21:1-48129895,21:10697897-48090972,21:10699330-48117896,21:10704198-48117896,21:10824040-48090629,21:10827533-48100155,21:10944001-48090972,21:14386013-48097372,21:14524963-48043704,21:14539679-48073002,21:14577835-48069743,21:14577835-48118159,21:14577894-48090258,21:14595524-48043704,21:14629063-48043704,21:14629063-48090317,21:14771770-48080867,21:15006457-48097372,21:15006458-48097372,21:15041209-48097372,21:15285841-48097372,21:15410701-48090317,21:15451032-48090972,21:15485038-48072996,21:15485038-48084162,21:15485038-48090352,21:15499847-48080911,21:15499847-48081052,21:15499847-48090317,21:15513244-48090352,21:15530370-48119895,21:15530429-48119895,21:20655360-48090317,21:34111831-48090258,21:34423268-48090317,21:35319225-48090972,21:37439289-48090972,21:37578365-48090317,21:37891471-48090317,21:42044877-48100155,21:43010560-48093051,21:43407305-48119895,21:44823321-48093849,21:46682125-48090317,21:47494789-48117896|.;po_P_gain_percent=0.0|.;po_P_loss_phen=.|.;po_P_loss_hpo=.|.;po_P_loss_source=dbVar:nssv15124545,nssv15131707,dbVar:nssv15124556,dbVar:nssv15125107,dbVar:nssv15127724,dbVar:nssv15134331,dbVar:nssv15141128,dbVar:nssv15141619,dbVar:nssv15145885,dbVar:nssv15146192,dbVar:nssv15146331,dbVar:nssv15146725,dbVar:nssv15146956,dbVar:nssv15147138,dbVar:nssv15147141,dbVar:nssv15147479,dbVar:nssv15147948,dbVar:nssv15148100,dbVar:nssv15148217,dbVar:nssv15148241,dbVar:nssv15148952,dbVar:nssv15148957,dbVar:nssv15149880,dbVar:nssv15149966,dbVar:nssv15150617,dbVar:nssv15150726,dbVar:nssv15152502,dbVar:nssv15153926,dbVar:nssv16208585,dbVar:nssv16208588,dbVar:nssv16208590,dbVar:nssv17969275,dbVar:nssv17969280|.;po_P_loss_coord=21:15485038-48090352,21:15538655-48080926,21:36162250-48056450,21:37914123-48097372,21:38699545-48097372,21:39041930-48090972,21:40188323-48097372,21:41254101-48097372,21:41628166-48119895,21:41667952-48090352,21:42335622-48097372,21:42410406-48097372,21:42657128-48090317,21:43153800-48090972,21:43472147-48097372,21:43498966-48097372,21:43549809-48090972,21:43653036-48090317,21:43687353-48097372,21:44333323-48090317,21:44491278-48090317,21:45490774-48097372,21:45773272-48097372,21:45814926-48090317,21:46363553-48080926,21:46530392-48067924,21:46558236-48090317,21:46749869-48097372,21:46761738-48119895,21:46955240-48080867,21:47221774-48090317,21:47550596-48080926|.;po_P_loss_percent=0.0|.;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=.|.;TAD_coordinate=.|.;ENCODE_experiment=.|.;Cosmic_ID=.|.;Cosmic_mut_typ=.|.;GC_content_left=0.375|.;GC_content_right=0.375|.;Repeat_coord_left=21:47889968-47890105|.;Repeat_type_left=AluSx|.;Repeat_coord_right=21:47889968-47890105|.;Repeat_type_right=AluSx|.;Gap_left=.|.;Gap_right=.|.;SegDup_left=.|.;SegDup_right=.|.;ENCODE_blacklist_left=.|.;ENCODE_blacklist_characteristics_left=.|.;ENCODE_blacklist_right=.|.;ENCODE_blacklist_characteristics_right=.|.;ACMG=.|.;HI=1.0|1.0;TS=.|0.0;DDD_HI_percent=58.86|58.86;ExAC_delZ=-1.88479703027366|-1.88479703027366;ExAC_dupZ=-2.53125239294469|-2.53125239294469;ExAC_cnvZ=-2.35568313668249|-2.35568313668249;ExAC_synZ=-0.076406278089376|-0.076406278089376;ExAC_misZ=2.69204010110863|2.69204010110863;GenCC_disease=.|autism_spectrum_disorder;GenCC_moi=.|AD;GenCC_classification=.|Limited;GenCC_pmid=.|.;OMIM_ID=.|.;OMIM_phenotype=.|.;OMIM_inheritance=.|.;OMIM_morbid=.|.;OMIM_morbid_candidate=.|.;LOEUF_bin=.|1.0;GnomAD_pLI=0.11301|0.11301;ExAC_pLI=0.7261|0.7261;AnnotSV_ranking_score=.|.;AnnotSV_ranking_criteria=.|.;ACMG_class=.|full=NA GT 0/1 diff --git a/vcf2circos/__init__.py b/vcf2circos/__init__.py index 02c9426..d0dad66 100644 --- a/vcf2circos/__init__.py +++ b/vcf2circos/__init__.py @@ -3,8 +3,8 @@ __all__ = ["vcf2circos"] __author__ = "Jean-Baptiste Lamouche, Antony Le Bechec, Jin Cui" -__version__ = "1.0.1" -__date__ = "January 11 2023" +__version__ = "1.1" +__date__ = "Mars 26 2023" launch() diff --git a/vcf2circos/__main__.py b/vcf2circos/__main__.py index f3c71ad..7f34b12 100755 --- a/vcf2circos/__main__.py +++ b/vcf2circos/__main__.py @@ -37,18 +37,6 @@ import argparse -__author__ = "Jin Cui, Antony Le Bechec, Jean-Baptiste Lamouche" -__version__ = "2.1.0" -__date__ = "November 14 2022" - -if sys.version_info[0] != 3: - raise Exception( - "vcf2circos requires Python 3, your current Python version is {}.{}.{}".format( - sys.version_info[0], sys.version_info[1], sys.version_info[2] - ) - ) - - def main(): t = time() args = Parseargs().parseargs() @@ -80,10 +68,11 @@ def main(): print(f"[INFO] Output file: {output_file} (format '{output_format}')") # Export - export_file = args.export - if export_file: - print(f"[INFO] Export file: {export_file} (format 'json')") - + export_format = args.export + if export_format: + print(f"[INFO] Export format: {export_format}") + output_export_file = ".".join(output_file.split(".")[:-1])+"."+export_format + print(f"[INFO] Export file: {output_export_file}") # Options options_input = args.options or {} if options_input: @@ -118,34 +107,26 @@ def main(): print(f"[INFO] Options not provided.") # Notebook mode - notebook_mode = args.notebook_mode - if notebook_mode: - init_notebook_mode(connected=True) + # notebook_mode = args.notebook_mode + # if notebook_mode: + # init_notebook_mode(connected=True) # Input if input_format in ["vcf", "gz"]: - - # js["Category"]["histogram"].append(histogram.merge_options()) - # pprint(ideogram.merge_options()) - # exit() print("\n") - # print(type(js["Category"]["cytoband"])) js = Datafactory(input_file, options).plot_dict() fig_instance = Figure(dash_dict=js, options=options) - # Export in vcf2circos JSON - if export_file: - if not os.path.exists(os.path.dirname(export_file)): - os.mkdir(os.path.dirname(export_file)) - f = open(export_file, "w") - f.write(json.dumps(copy.deepcopy(js)), indent=4) - f.close() + #if output_export_file: + # if not os.path.exists(os.path.dirname(os.path.abspath(output_export_file))): + # os.mkdir(os.path.dirname(output_export_file)) + # with open(output_export_file, "w") as ef: + # ef.write(json.dumps(copy.deepcopy(js), indent=4)) + # ef.close() elif input_format in ["json"]: - - fig_instance = Figure(dash_dict=js, options=options) - + fig_instance = Figure(input_json_path=input_file, options=options) else: print("[ERROR] input format not supported") @@ -177,23 +158,16 @@ def main(): if scatter.showlegend is None and hasattr(scatter, "name"): if scatter.name is not None: scatter.legendrank = dico[scatter.name] - # with open("15122022_config.json", "w+") as js: - # data = plotly.io.to_json(fig, pretty=True) - # js.write(data) - ## print(fig) - # exit() - # Fig - # legend = Legend(fig) - try: if not output_format: plot(fig) + if not os.path.exists(os.path.dirname(os.path.abspath(output_file))): + os.mkdir(os.path.dirname(output_file)) elif output_format in ["html"]: - if "/" in output_file: - if not os.path.exists(os.path.dirname(output_file)): - os.mkdir(os.path.dirname(output_file)) plot(fig, filename=output_file) - elif output_format in [ + else: + print("[ERROR] output format not supported") + if export_format in [ "png", "jpg", "jpeg", @@ -203,14 +177,8 @@ def main(): "eps", "json", ]: - if ( - not os.path.exists(os.path.dirname(output_file)) - and os.path.dirname(output_file) != "" - ): - os.mkdir(os.path.dirname(output_file)) - plotly.io.write_image(fig, output_file, format=output_format) - else: - print("[ERROR] output format not supported") + #plotly.io.write_image(fig, output_export_file, format="svg") + fig.write_image(output_export_file) except IndexError: plot(fig) diff --git a/vcf2circos/__pycache__/Complex.cpython-36.pyc b/vcf2circos/__pycache__/Complex.cpython-36.pyc deleted file mode 100644 index 611b123..0000000 Binary files a/vcf2circos/__pycache__/Complex.cpython-36.pyc and /dev/null differ diff --git a/vcf2circos/__pycache__/__init__.cpython-36.pyc b/vcf2circos/__pycache__/__init__.cpython-36.pyc deleted file mode 100644 index 4e92dd9..0000000 Binary files a/vcf2circos/__pycache__/__init__.cpython-36.pyc and /dev/null differ diff --git a/vcf2circos/__pycache__/colors.cpython-36.pyc b/vcf2circos/__pycache__/colors.cpython-36.pyc deleted file mode 100644 index b976f30..0000000 Binary files a/vcf2circos/__pycache__/colors.cpython-36.pyc and /dev/null differ diff --git a/vcf2circos/__pycache__/fig.cpython-36.pyc b/vcf2circos/__pycache__/fig.cpython-36.pyc deleted file mode 100644 index cb89800..0000000 Binary files a/vcf2circos/__pycache__/fig.cpython-36.pyc and /dev/null differ diff --git a/vcf2circos/__pycache__/maths.cpython-36.pyc b/vcf2circos/__pycache__/maths.cpython-36.pyc deleted file mode 100644 index 8e2d1d8..0000000 Binary files a/vcf2circos/__pycache__/maths.cpython-36.pyc and /dev/null differ diff --git a/vcf2circos/config/__pycache__/__init__.cpython-36.pyc b/vcf2circos/config/__pycache__/__init__.cpython-36.pyc deleted file mode 100644 index 665500f..0000000 Binary files a/vcf2circos/config/__pycache__/__init__.cpython-36.pyc and /dev/null differ diff --git a/vcf2circos/config/__pycache__/coord_config.cpython-36.pyc b/vcf2circos/config/__pycache__/coord_config.cpython-36.pyc deleted file mode 100644 index 5ec008a..0000000 Binary files a/vcf2circos/config/__pycache__/coord_config.cpython-36.pyc and /dev/null differ diff --git a/vcf2circos/config/__pycache__/json_config.cpython-36.pyc b/vcf2circos/config/__pycache__/json_config.cpython-36.pyc deleted file mode 100644 index 45d344a..0000000 Binary files a/vcf2circos/config/__pycache__/json_config.cpython-36.pyc and /dev/null differ diff --git a/vcf2circos/config/coord_config.py b/vcf2circos/config/coord_config.py index 25d361b..63260c7 100644 --- a/vcf2circos/config/coord_config.py +++ b/vcf2circos/config/coord_config.py @@ -2,11 +2,13 @@ import pandas as pd import colorlover as cl import sys -sys.path.append('../') + +sys.path.append("../") import colors import io import base64 -''' + +""" This code converts reads input file and output a dictionary which includes the following: theta_values for various circular plots, plot_color(convert color into rgb values if needed), @@ -14,53 +16,62 @@ plot_width, plot_line_type, offset_theta (annotation), -''' - - - -def chr_info(input_file_path, - sep='\t', header='infer', - custom_label=False, - custom_spacing=False, - custom_color=False, - path='' - #dash_mode=False - ): +""" + + +def chr_info( + input_file_path, + sep="\t", + header="infer", + custom_label=False, + custom_spacing=False, + custom_color=False, + path="" + # dash_mode=False +): # input is a dict if type(input_file_path) is dict: - chr_info_pd = pd.DataFrame.from_dict(data=input_file_path.get('data',{}), orient=input_file_path.get('orient','columns'), columns=input_file_path.get('columns',None)) + chr_info_pd = pd.DataFrame.from_dict( + data=input_file_path.get("data", {}), + orient=input_file_path.get("orient", "columns"), + columns=input_file_path.get("columns", None), + ) # input is a file else: try: - chr_info_pd = pd.read_csv(input_file_path, sep=sep, header=header) + chr_info_pd = pd.read_csv(input_file_path, sep=sep, header=header) except Exception: try: - chr_info_pd = pd.read_csv(input_file_path, sep=sep, header=header, engine='python').fillna(0) + chr_info_pd = pd.read_csv( + input_file_path, sep=sep, header=header, engine="python" + ).fillna(0) except Exception: try: chr_info_pd = pd.read_csv(input_file_path, sep=sep) except Exception: try: - chr_info_pd = pd.read_csv(input_file_path, sep='\t') + chr_info_pd = pd.read_csv(input_file_path, sep="\t") except Exception: try: - chr_info_pd = pd.read_csv(input_file_path, sep=' ') + chr_info_pd = pd.read_csv(input_file_path, sep=" ") except Exception: try: - chr_info_pd = pd.read_csv(input_file_path, sep=',') + chr_info_pd = pd.read_csv(input_file_path, sep=",") except Exception: - print('[WARN] unable to read ideogram, printing input file path below') + print( + "[WARN] unable to read ideogram, printing input file path below" + ) print(input_file_path) - ''' + """ else: ##### ONGOING ##### need to add custom selection of chromsomes chr_info_pd = pd.read_csv(input_file_path, sep=sep, header=header) print('test chr_info_pd') print(chr_info_pd) - ''' - ''' + """ + """ for i in range(len(chr_info_pd)): if custom_label is False: @@ -68,294 +79,389 @@ def chr_info(input_file_path, else: chr_info_pd = chr_info_pd[chr_info_pd.iloc[:,2].isin(dash_dict['chromosome_checklist'])] - ''' - - - - chr_info=np.array(chr_info_pd.iloc[:]) - + """ + chr_info = np.array(chr_info_pd.iloc[:]) assert len(chr_info) > 0 assert chr_info.shape[1] >= 2 config_dict = {} - chr_name = chr_info[:,0] - chr_size=chr_info[:,1] - default_list = ['chr1','chr2','chr3','chr4','chr5','chr6','chr7','chr8','chr9','chr10','chr11','chr12','chr13','chr14','chr15','chr16','chr17','chr18','chr19','chr20','chr21','chr22','chrx','chry','chr23','chr24','chr0','chrM','chrUn','chrNA'] - + chr_name = chr_info[:, 0] + chr_size = chr_info[:, 1] + default_list = [ + "chr1", + "chr2", + "chr3", + "chr4", + "chr5", + "chr6", + "chr7", + "chr8", + "chr9", + "chr10", + "chr11", + "chr12", + "chr13", + "chr14", + "chr15", + "chr16", + "chr17", + "chr18", + "chr19", + "chr20", + "chr21", + "chr22", + "chrx", + "chry", + "chr23", + "chr24", + "chr0", + "chrM", + "chrUn", + "chrNA", + ] if custom_label: - try: - chr_label = chr_info[:,2] + try: + chr_label = chr_info[:, 2] except IndexError: - print('[WARN] 3rd column is missing for chromosome custom label, using chromosome names as label') + print( + "[WARN] 3rd column is missing for chromosome custom label, using chromosome names as label" + ) chr_label = chr_name else: chr_label = chr_name - + if custom_spacing: try: - chr_spacing = chr_info[:,4] + chr_spacing = chr_info[:, 4] except IndexError: - print('[WARN] 5th column is missing for inter-chromosome custom spacing, using default spacing values') - chr_spacing = np.ones(chr_size.shape)*(0.05*sum(chr_size)/len(chr_size)) + print( + "[WARN] 5th column is missing for inter-chromosome custom spacing, using default spacing values" + ) + chr_spacing = np.ones(chr_size.shape) * ( + 0.05 * sum(chr_size) / len(chr_size) + ) else: - chr_spacing = np.ones(chr_size.shape)*(0.05*sum(chr_size)/len(chr_size)) - - + chr_spacing = np.ones(chr_size.shape) * (0.05 * sum(chr_size) / len(chr_size)) + if custom_color: try: - chr_color = colors.to_rgb(chr_info[:,3]) - except IndexError: - print('[WARN] 4th column is missing for custom chromosome color, using default method to assign chromosome colors') + chr_color = colors.to_rgb(chr_info[:, 3]) + except (IndexError, TypeError): + print( + "[WARN] 4th column is missing for custom chromosome color, using default method to assign chromosome colors" + ) if len(chr_info) <= 30: - chr_color = colors.to_rgb(default_list)[:len(chr_info)] - else: + chr_color = colors.to_rgb(default_list)[: len(chr_info)] + else: assert len(chr_info) <= 710 chr_color = colors.random_rgb(len(chr_info)) - else: + else: if len(chr_info) <= 30: - chr_color = colors.to_rgb(default_list)[:len(chr_info)] - else: + chr_color = colors.to_rgb(default_list)[: len(chr_info)] + else: assert len(chr_info) <= 710 chr_color = colors.random_rgb(len(chr_info)) - - config_dict['chr_color_dict'] = dict(zip(chr_label, chr_color)) - config_dict['chr_fillcolor'] = chr_color + + config_dict["chr_color_dict"] = dict(zip(chr_label, chr_color)) + config_dict["chr_fillcolor"] = chr_color # I assume the start is half of the first chr_spacing if len(chr_info) == 1: - start = chr_spacing[0]/2 + start = chr_spacing[0] / 2 ideogram_bin = [[start, chr_size[0] + start]] # it would be like: [[10,110]] for example else: - ideogram_bin=[] - start = chr_spacing[0]/2 - for i in range(len(chr_info)-1): + ideogram_bin = [] + start = chr_spacing[0] / 2 + for i in range(len(chr_info) - 1): end = start + chr_size[i] - ideogram_bin.append([start,end]) - start = end + chr_spacing[i+1] - end=start + chr_size[-1] - ideogram_bin.append([start,end]) + ideogram_bin.append([start, end]) + start = end + chr_spacing[i + 1] + end = start + chr_size[-1] + ideogram_bin.append([start, end]) - config_dict['chr_name'] = chr_name - config_dict['chr_size'] = chr_size - config_dict['chr_label'] = chr_label - config_dict['chr_label_dict'] = dict(zip(chr_name, chr_label)) - - config_dict['chr_spacing'] = chr_spacing - config_dict['ideogram_bin'] =ideogram_bin + config_dict["chr_name"] = chr_name + config_dict["chr_size"] = chr_size + config_dict["chr_label"] = chr_label + config_dict["chr_label_dict"] = dict(zip(chr_name, chr_label)) + config_dict["chr_spacing"] = chr_spacing + config_dict["ideogram_bin"] = ideogram_bin return config_dict -def ideogram_coord_config(chr_info, npoints=1000, - show_major_tick=False, major_tick_spacing=40000000, - show_minor_tick=False, minor_tick_spacing=20000000, - show_tick_label=False, tick_label_spacing=40000000, - ): - '''This function helps measuring accumulative fine coordinates for ideogram, major, minor ticks and tick labels, default is only ideogram - ''' +def ideogram_coord_config( + chr_info, + npoints=1000, + show_major_tick=False, + major_tick_spacing=40000000, + show_minor_tick=False, + minor_tick_spacing=20000000, + show_tick_label=False, + tick_label_spacing=40000000, +): + """This function helps measuring accumulative fine coordinates for ideogram, major, minor ticks and tick labels, default is only ideogram""" # ideogram_accum_coord_list is used for ideogram patch, so a reversed array is needed, 2X - config_dict={} + config_dict = {} - config_dict['chr_label'] = chr_info['chr_label'] + config_dict["chr_label"] = chr_info["chr_label"] - SUM = sum(chr_info['chr_size']) + sum(chr_info['chr_spacing']) + SUM = sum(chr_info["chr_size"]) + sum(chr_info["chr_spacing"]) - config_dict['SUM'] = SUM + config_dict["SUM"] = SUM - step = SUM/npoints - ideogram_bin = chr_info['ideogram_bin'] + step = SUM / npoints + ideogram_bin = chr_info["ideogram_bin"] ideogram_accum_coord_list = [] for i in range(len(ideogram_bin)): - ideogram_accum_coord_list.append(np.concatenate((np.arange(ideogram_bin[i][0], ideogram_bin[i][1]+1, step), np.arange(ideogram_bin[i][0], ideogram_bin[i][1]+1, step)[::-1]))) - config_dict['ideogram_accum_coord_list'] = ideogram_accum_coord_list + ideogram_accum_coord_list.append( + np.concatenate( + ( + np.arange(ideogram_bin[i][0], ideogram_bin[i][1] + 1, step), + np.arange(ideogram_bin[i][0], ideogram_bin[i][1] + 1, step)[::-1], + ) + ) + ) + config_dict["ideogram_accum_coord_list"] = ideogram_accum_coord_list if show_major_tick: # 0,0,1,1,2,2 ... major_tick_accum_coord_list = [] for i in range(len(ideogram_bin)): - major_tick_accum_coord_list.append(np.repeat(np.arange(ideogram_bin[i][0], ideogram_bin[i][1]+1, major_tick_spacing), 2)) - config_dict['major_tick_accum_coord_list'] = major_tick_accum_coord_list + major_tick_accum_coord_list.append( + np.repeat( + np.arange( + ideogram_bin[i][0], ideogram_bin[i][1] + 1, major_tick_spacing + ), + 2, + ) + ) + config_dict["major_tick_accum_coord_list"] = major_tick_accum_coord_list if show_minor_tick: - minor_tick_accum_coord_list=[] + minor_tick_accum_coord_list = [] for i in range(len(ideogram_bin)): - minor_tick_accum_coord_list.append(np.repeat(np.arange(ideogram_bin[i][0], ideogram_bin[i][1]+1, minor_tick_spacing), 2)) - config_dict['minor_tick_accum_coord_list'] = minor_tick_accum_coord_list + minor_tick_accum_coord_list.append( + np.repeat( + np.arange( + ideogram_bin[i][0], ideogram_bin[i][1] + 1, minor_tick_spacing + ), + 2, + ) + ) + config_dict["minor_tick_accum_coord_list"] = minor_tick_accum_coord_list if show_tick_label: tick_label_accum_coord_list = [] tick_label_non_accum_list = [] for i in range(len(ideogram_bin)): - tick_label_accum_coord_list.append(np.arange(ideogram_bin[i][0], ideogram_bin[i][1]+1, tick_label_spacing)) - tick_label_non_accum_list.append(np.arange(0, chr_info['chr_size'][i] + 1, tick_label_spacing)) - - config_dict['tick_label_non_accum_list'] = tick_label_non_accum_list - config_dict['tick_label_accum_coord_list'] = tick_label_accum_coord_list + tick_label_accum_coord_list.append( + np.arange( + ideogram_bin[i][0], ideogram_bin[i][1] + 1, tick_label_spacing + ) + ) + tick_label_non_accum_list.append( + np.arange(0, chr_info["chr_size"][i] + 1, tick_label_spacing) + ) + + config_dict["tick_label_non_accum_list"] = tick_label_non_accum_list + config_dict["tick_label_accum_coord_list"] = tick_label_accum_coord_list return config_dict -def read_data(input_file_path, category, chr_info, sep='\t', header='infer'): +def read_data(input_file_path, category, chr_info, sep="\t", header="infer"): ## deprecated, everythng incorporated into data_array try: pd_data = pd.read_csv(input_file_path, sep=sep, header=header) except Exception: print(input_file_path) - pd_data = pd.read_csv(input_file_path, sep=sep, header=header, engine='python').fillna('NA') - - pd_data = pd_data[pd_data.iloc[:,0].isin(chr_info['chr_name'])] + pd_data = pd.read_csv( + input_file_path, sep=sep, header=header, engine="python" + ).fillna("NA") + + pd_data = pd_data[pd_data.iloc[:, 0].isin(chr_info["chr_name"])] for i in range(len(pd_data)): - pd_data.iloc[i,0] = chr_info['chr_label_dict'][pd_data.iloc[i,0]] + pd_data.iloc[i, 0] = chr_info["chr_label_dict"][pd_data.iloc[i, 0]] - if category in ['link', 'ribbon', 'twistedribbon']: - pd_data = pd_data[pd_data.iloc[:,3].isin(chr_info['chr_name'])] + if category in ["link", "ribbon", "twistedribbon"]: + pd_data = pd_data[pd_data.iloc[:, 3].isin(chr_info["chr_name"])] for i in range(len(pd_data)): - pd_data.iloc[i,3] = chr_info['chr_label_dict'][pd_data.iloc[i,3]] + pd_data.iloc[i, 3] = chr_info["chr_label_dict"][pd_data.iloc[i, 3]] return np.array(pd_data.iloc[:]) -def data_array(input_file_path, category, chr_info, sep='\t', header='infer', - colorcolumn=None, to_rgb=True, sortbycolor=False - ): - '''This function helps: - calculating accumulative fine coordinates from the data - convert chr_name to chr_label - possibly convert color string to rgb colors (for cytoband, heatmap) - possibly sort data by colorcolumn (for cytoband, heatmap, annotation) - Note that you should not sort data for other plots''' - - '''notice that from ring data doesn't need to be processed''' +def data_array( + input_file_path, + category, + chr_info, + sep="\t", + header="infer", + colorcolumn=None, + to_rgb=True, + sortbycolor=False, +): + """This function helps: + calculating accumulative fine coordinates from the data + convert chr_name to chr_label + possibly convert color string to rgb colors (for cytoband, heatmap) + possibly sort data by colorcolumn (for cytoband, heatmap, annotation) + Note that you should not sort data for other plots""" + + """notice that from ring data doesn't need to be processed""" # this function is used for copmlex_config module as well as the hovertext module # accum_coord_config contains: category, data_chr data_input_coord,data_accum_coord, - ### The need for sorting is because plotly layout can only take in one color at a time, + ### The need for sorting is because plotly layout can only take in one color at a time, # so I have to append different colors each time, if data is sorted by color, we would reduce the number of append and save time ### for cytoband and heatmap, the default is to sortbycolor, for other plots, unless color is specified by a column, the default is that they have the same color - supported_categories = ['cytoband', 'histogram', 'line', 'area', 'scatter', 'tile', 'heatmap', 'link', 'ribbon', 'twistedribbon', 'connector', 'highlight', 'annotation'] + supported_categories = [ + "cytoband", + "histogram", + "line", + "area", + "scatter", + "tile", + "heatmap", + "link", + "ribbon", + "twistedribbon", + "connector", + "highlight", + "annotation", + ] ## for ring data, we don't need to use this function if category not in supported_categories: - raise ValueError('Please choose a supported category, please note that ideogram, ring data does not go through here') + raise ValueError( + "Please choose a supported category, please note that ideogram, ring data does not go through here" + ) data_dict = {} # input data from dataframe (dict) or file (str) if type(input_file_path) is dict: - input_pd = pd.DataFrame.from_dict(data=input_file_path.get('data',{}), orient=input_file_path.get('orient','columns'), columns=input_file_path.get('columns',None)) + input_pd = pd.DataFrame.from_dict( + data=input_file_path.get("data", {}), + orient=input_file_path.get("orient", "columns"), + columns=input_file_path.get("columns", None), + ) else: try: input_pd = pd.read_csv(input_file_path, sep=sep, header=header) except Exception: - input_pd = pd.read_csv(input_file_path, sep=sep, header=header, engine='python').fillna(0) + input_pd = pd.read_csv( + input_file_path, sep=sep, header=header, engine="python" + ).fillna(0) # read_data for hovertext information, not required for every category try: - pd_data = input_pd[input_pd.iloc[:,0].isin(chr_info['chr_name'])] + pd_data = input_pd[input_pd.iloc[:, 0].isin(chr_info["chr_name"])] for i in range(len(pd_data)): - pd_data.iloc[i,0] = chr_info['chr_label_dict'][pd_data.iloc[i,0]] + pd_data.iloc[i, 0] = chr_info["chr_label_dict"][pd_data.iloc[i, 0]] - if category in ['link', 'ribbon', 'twistedribbon']: - pd_data = pd_data[pd_data.iloc[:,3].isin(chr_info['chr_name'])] + if category in ["link", "ribbon", "twistedribbon"]: + pd_data = pd_data[pd_data.iloc[:, 3].isin(chr_info["chr_name"])] for i in range(len(pd_data)): - pd_data.iloc[i,3] = chr_info['chr_label_dict'][pd_data.iloc[i,3]] + pd_data.iloc[i, 3] = chr_info["chr_label_dict"][pd_data.iloc[i, 3]] read_data = np.array(pd_data.iloc[:]) except Exception: pass - - - chr_ideogram_bin = chr_info['ideogram_bin'] + chr_ideogram_bin = chr_info["ideogram_bin"] # convert chr_name to chr_label, e.g. hs1 => chr1 - input_pd = input_pd[input_pd.iloc[:,0].isin(chr_info['chr_name'])] + input_pd = input_pd[input_pd.iloc[:, 0].isin(chr_info["chr_name"])] for i in range(len(input_pd)): - input_pd.iloc[i,0] = chr_info['chr_label_dict'][input_pd.iloc[i,0]] + input_pd.iloc[i, 0] = chr_info["chr_label_dict"][input_pd.iloc[i, 0]] - if category in ['link', 'ribbon', 'twistedribbon']: - input_pd = input_pd[input_pd.iloc[:,3].isin(chr_info['chr_name'])] + if category in ["link", "ribbon", "twistedribbon"]: + input_pd = input_pd[input_pd.iloc[:, 3].isin(chr_info["chr_name"])] for i in range(len(input_pd)): - input_pd.iloc[i,3] = chr_info['chr_label_dict'][input_pd.iloc[i,3]] - + input_pd.iloc[i, 3] = chr_info["chr_label_dict"][input_pd.iloc[i, 3]] input_array = np.array(input_pd.iloc[:]) # can't make this assertion in dash app since if all data is on the chromosome which we uncheck input_array will be non-existent # assert len(input_array) > 0 - data_chr = input_array[:,0] - - + data_chr = input_array[:, 0] - if category in ['link', 'ribbon', 'twistedribbon']: + if category in ["link", "ribbon", "twistedribbon"]: try: - data_chr_1 = input_array[:,3] + data_chr_1 = input_array[:, 3] except IndexError: print(f'["ERROR"] error, printing input_array in category "{category}"') - print(input_array) + print(input_array) - ''' + """ for i in range(len(input_array)): try: data_chr_1[i] = chr_label_dict[data_chr_1[i]] except KeyError: np.delete(input_array, i, 0) - ''' + """ - coord = input_array[:,1:3] - coord_1 = input_array[:,4:6] + coord = input_array[:, 1:3] + coord_1 = input_array[:, 4:6] - for i in range(len(chr_ideogram_bin)): + for i in range(len(chr_ideogram_bin)): for j in range(len(input_array)): - if data_chr[j] == chr_info['chr_label'][i]: - coord[j,:] += chr_ideogram_bin[i][0] - if data_chr_1[j] == chr_info['chr_label'][i]: - coord_1[j,:] += chr_ideogram_bin[i][0] - - elif category in ['cytoband', 'histogram', 'heatmap', 'highlight', 'tile', 'connector']: - coord = input_array[:,1:3] - for i in range(len(chr_ideogram_bin)): + if data_chr[j] == chr_info["chr_label"][i]: + coord[j, :] += chr_ideogram_bin[i][0] + if data_chr_1[j] == chr_info["chr_label"][i]: + coord_1[j, :] += chr_ideogram_bin[i][0] + + elif category in [ + "cytoband", + "histogram", + "heatmap", + "highlight", + "tile", + "connector", + ]: + coord = input_array[:, 1:3] + for i in range(len(chr_ideogram_bin)): for j in range(len(input_array)): - if data_chr[j] == chr_info['chr_label'][i]: - coord[j,:] += chr_ideogram_bin[i][0] - - elif category in ['scatter', 'line', 'area', 'annotation']: - pos = input_array[:,1] - for i in range(len(chr_ideogram_bin)): + if data_chr[j] == chr_info["chr_label"][i]: + coord[j, :] += chr_ideogram_bin[i][0] + + elif category in ["scatter", "line", "area", "annotation"]: + pos = input_array[:, 1] + for i in range(len(chr_ideogram_bin)): for j in range(len(input_array)): - if data_chr[j] == chr_info['chr_label'][i]: + if data_chr[j] == chr_info["chr_label"][i]: pos[j] += chr_ideogram_bin[i][0] if isinstance(colorcolumn, int): if to_rgb: - input_array[:,colorcolumn] = colors.to_rgb(input_array[:,colorcolumn]) + input_array[:, colorcolumn] = colors.to_rgb(input_array[:, colorcolumn]) if sortbycolor == True: if not isinstance(colorcolumn, int): - data_dict['sortindex'] = list(range(len(input_array))) + data_dict["sortindex"] = list(range(len(input_array))) else: - indices = input_array[:,colorcolumn].argsort() + indices = input_array[:, colorcolumn].argsort() input_array = input_array[indices] # DEBUGGING: - #print ('the real sortindex for {} is: \t'.format(category)) - #print (indices) + # print ('the real sortindex for {} is: \t'.format(category)) + # print (indices) - data_dict['sortindex'] = indices + data_dict["sortindex"] = indices else: - data_dict['sortindex'] = list(range(len(input_array))) - data_dict['data_array'] = input_array + data_dict["sortindex"] = list(range(len(input_array))) + data_dict["data_array"] = input_array try: - data_dict['read_data'] = read_data + data_dict["read_data"] = read_data except Exception: pass return data_dict - \ No newline at end of file diff --git a/vcf2circos/config/json_config.py b/vcf2circos/config/json_config.py index 0b4a261..ee5d6b3 100644 --- a/vcf2circos/config/json_config.py +++ b/vcf2circos/config/json_config.py @@ -1,56 +1,48 @@ -''' +""" This code helps parse the json config file and convert it into a dictionary font_family reference: https://www.w3schools.com/cssref/playit.asp?filename=playcss_font-family -''' +""" import sys from typing import Dict -sys.path.append('../') + +sys.path.append("../") import pandas as pd import json import os -defaultdict_json={ +defaultdict_json = { "General": { "width": 1500, "height": 1500, "title": "my Circos plot", - "titlefont": { - "family": "Times New Roman", - "size": 18, - "color": "black" - }, + "titlefont": {"family": "Times New Roman", "size": 18, "color": "black"}, "hovermode": "closest", "showlegend": False, "xaxis": { - "range": [ - -1.4, - 1.4 - ], + "range": [-1.4, 1.4], "autorange": False, "showgrid": False, "zeroline": False, - "showticklabels": False + "showticklabels": False, }, "yaxis": { - "range": [ - -1.4, - 1.4 - ], + "range": [-1.4, 1.4], "autorange": False, "showgrid": False, "zeroline": False, - "showticklabels": False - } + "showticklabels": False, + }, } } + def nested_eval(X): - ''' + """ this function converts any stringed boolean (e.g. "True"), stringed nontype ("None"), stringed float ("1.5") stringed list (e.g. "[1,2,3]", ["1","1.2","1.3"]) to boolean, nontype and list variable, non-stringed units won't be affected. Any stringed variable nested inside list or dict will be reviewed. Note that ordinary string (e.g. "ABC" is not recognized and eval(string) will result in NameError, therefore they won't be converted in this function Reason for this function is that json doesn't store True, it needs "True" - ''' + """ if isinstance(X, str): try: @@ -66,8 +58,9 @@ def nested_eval(X): pass return X + def json_dict(json_config_path): - with open(json_config_path, 'r') as f: + with open(json_config_path, "r") as f: json_read = f.read() f.close() @@ -78,67 +71,85 @@ def json_dict(json_config_path): def nested_fill_dict(input_dict, default_dict): - - '''Assigning default values if key not found + + """Assigning default values if key not found For nested dictionary or dict nested within list, search thoroughly and append default values if key not found! - ''' + """ ## USAGE: nested_fill_dict(my_json_config, default_json_config) ## ONGOING for key in default_dict.keys(): - - + if key not in input_dict: - #if key in ['General', 'trace' ]: - if not key in ['Category', 'ideogram', 'patch', 'path', 'file', 'cytoband', 'histogram', 'scatter', 'line', - 'area', 'heatmap', 'tile', 'link', 'ribbon', 'twistedribbon', 'connector', 'annotation', 'highlight', 'ring']: + # if key in ['General', 'trace' ]: + if not key in [ + "Category", + "ideogram", + "patch", + "path", + "file", + "cytoband", + "histogram", + "scatter", + "line", + "area", + "heatmap", + "tile", + "link", + "ribbon", + "twistedribbon", + "connector", + "annotation", + "highlight", + "ring", + ]: input_dict[key] = default_dict[key] - elif key == 'line': - if 'color' in default_dict[key].keys() and 'width' in default_dict[key].keys(): + elif key == "line": + if ( + "color" in default_dict[key].keys() + and "width" in default_dict[key].keys() + ): input_dict[key] = default_dict[key] - elif isinstance(default_dict[key], (str, int, float)): input_dict[key] = default_dict[key] - - elif key in ['xaxis', 'yaxis']: + + elif key in ["xaxis", "yaxis"]: input_dict[key] = default_dict[key] else: continue - + elif isinstance(input_dict[key], dict): ## In cases where a plot is missing, for example no histogram is to be plotted, I want to make sure not to add default_dict['Category']['histogram] into the data - if key != 'Category': + if key != "Category": nested_fill_dict(input_dict[key], default_dict[key]) - else: - nested_fill_dict(input_dict['Category'], default_dict['Category']) - #for subkey in input_dict['Category'].keys(): - #nested_fill_dict(input_dict['Category'][subkey], default_dict['Category'][subkey]) + else: + nested_fill_dict(input_dict["Category"], default_dict["Category"]) + # for subkey in input_dict['Category'].keys(): + # nested_fill_dict(input_dict['Category'][subkey], default_dict['Category'][subkey]) elif isinstance(input_dict[key], list): # only dictionary list will be further investigated, stringed list and numeric list wont for element in input_dict[key]: - if isinstance(element, dict): + if isinstance(element, dict): nested_fill_dict(element, default_dict[key]) else: pass else: # if value is string, bool, int or anything else pass - def json2dict(input_dict): - '''Note that after assignment of default values, some additional information has to be provided: scatterplot default colors etc, I'll do this in layout and trace module ''' - + """Note that after assignment of default values, some additional information has to be provided: scatterplot default colors etc, I'll do this in layout and trace module""" + if isinstance(input_dict, str): input_json_dict = json_dict(input_dict) - + elif isinstance(input_dict, dict): input_json_dict = input_dict - defaultdict = {} try: defaultdict = json_dict("default_params.json") @@ -147,25 +158,24 @@ def json2dict(input_dict): defaultdict = json_dict("config/default_params.json") except FileNotFoundError: try: - defaultdict = json_dict(os.path.join(os.path.dirname(__file__), "default_params.json")) + defaultdict = json_dict( + os.path.join(os.path.dirname(__file__), "default_params.json") + ) except FileNotFoundError: - print('default_params json file not found') + print("default_params json file not found") try: defaultdict = defaultdict_json except FileNotFoundError: - print('default_params variable file not found') - + print("default_params variable file not found") nested_fill_dict(input_json_dict, defaultdict) - ''' + """ if dash_dict: input_json_dict['Category']['ideogram']['ideogram'].update(dict(degreerange=dash_dict['degreerange'])) #input_json_dict['Category']['ideogram']['majortick'].update(dict(spacing=dash_dict['majortick_spacing'])) #input_json_dict['Category']['ideogram']['minortick'].update(dict(spacing=dash_dict['minortick_spacing'])) input_json_dict['Category']['ideogram']['ticklabel'].update(dict(textformat=dash_dict['tick_format'])) - ''' + """ return input_json_dict - - diff --git a/vcf2circos/datafactory.py b/vcf2circos/datafactory.py index d3336e3..32f02aa 100644 --- a/vcf2circos/datafactory.py +++ b/vcf2circos/datafactory.py @@ -14,16 +14,10 @@ def __init__(self, input_file, options) -> None: self.input_file = input_file self.options = options self.rangescale = [] - val = ( - options["Variants"]["rings"]["position"] - + options["Variants"]["rings"]["space"] - ) + val = options["Variants"]["rings"]["position"] + options["Variants"]["rings"]["space"] self.rangescale.append(val) for i in range(options["Variants"]["rings"]["nrings"]): - val += ( - options["Variants"]["rings"]["height"] - + options["Variants"]["rings"]["space"] - ) + val += options["Variants"]["rings"]["height"] + options["Variants"]["rings"]["space"] self.rangescale.append(val) # Read vcf and process raw data to feed child class @@ -43,13 +37,15 @@ def plot_dict(self): rangescale=self.rangescale, config_ring=self.options["Variants"]["rings"], ) - - # Ugly as hell, if we wanna take only snv indel overlapping SV + if not pc.data['Variants'] and not pc.breakend_record: + print("No variants in "+pc.filename+" EXIT") + exit() # Create plot object link = Link(pc) histogram = Histogram_(pc) cytoband = Cytoband(pc) - data_histo = histogram.merge_options(cytoband.data_cytoband()) + link_me, chr_values = link.merge_options() + data_histo = histogram.merge_options(cytoband.data_cytoband(chr_values)) ideogram = Ideogram(pc) ring = Ring(pc, ["genes"]) scatter = Scatter_(pc, data_histo.copy()) @@ -57,15 +53,11 @@ def plot_dict(self): # Final dict containing all plots informations js = {} js["General"] = ideogram.options["General"] - # print("HISTO\n") - # for ite in data_histo: - # print(ite["file"]["dataframe"]["data"].keys()) - link_me, chr_values = link.merge_options() js["Category"] = { "ideogram": ideogram.merge_options(chr_values), "ring": ring.create_ring(), - "cytoband": cytoband.merge_options(), + "cytoband": cytoband.merge_options(chr_values), "histogram": data_histo, "scatter": scatter.merge_options(), "link": link_me, @@ -78,37 +70,46 @@ def plot_dict(self): # exit() # Adjustement in case of no data for example when use overlapping snv only remove_under = [] + plot_check = ["histogram", "scatter"] for plot_type in js["Category"]: - if plot_type == "histogram" or plot_type == "scatter": + if plot_type in plot_check: # Only for list if isinstance(js["Category"][plot_type], list): for i, val in enumerate(js["Category"][plot_type]): # print(val["file"]["dataframe"]["data"]["chr_name"]) - if val["trace"]["uid"].startswith("cnv_"): + if val["trace"]["uid"].startswith("cnv_") or val["trace"]["uid"].startswith( + "genes" + ): # genes in cases of only translocation if not val["file"]["dataframe"]["data"]["chr_name"]: # print(val["file"]["dataframe"]["data"]["chr_name"]) remove_under.append((plot_type, i)) ## Could remove only one ore need to build a copy if remove_under: - print("#[INFO] index of category to remove: " + ", ".join(remove_under)) - # print("DELETE empty") - del js["Category"][remove_under[0][0]][remove_under[0][1]] - # print(js["Category"][remove_under[0][0]]) - + for fields in remove_under: + print( + "#[INFO] index of category to remove: " + + ", ".join([items[0] for items in remove_under]) + ) + # print("DELETE empty") + del js["Category"][fields[0]][fields[1]] + # print(js["Category"][remove_under[0][0]]) remove = [] for plot_type in js["Category"]: - if plot_type == "histogram" or plot_type == "scatter": + if plot_type in plot_check: if not js["Category"][plot_type]: remove.append(plot_type) elif plot_type == "link": - if not js["Category"][plot_type]["file"]["dataframe"]["data"][ - "chr1_name" - ]: + # exit() + if not js["Category"][plot_type]["file"]["dataframe"]["data"]["chr1_name"]: remove.append(plot_type) if remove: print("#[INFO] Whole category to remove: " + ", ".join(remove)) for item in remove: del js["Category"][item] + # mean only transloc or no variants + #if "scatter" in remove and not "link" in remove: + # del js["Category"]["ring"] + # js["Category"]["link"]["radius"] = {"R0": 0, "R1": 0.98} # DEBUG dico values # test_ = [] diff --git a/vcf2circos/fig.py b/vcf2circos/fig.py index 96f0019..1d81450 100644 --- a/vcf2circos/fig.py +++ b/vcf2circos/fig.py @@ -2,6 +2,7 @@ import json import sys import plotly.graph_objs as go +import plotly import numpy as np import pandas as pd import maths @@ -16,13 +17,14 @@ from vcf2circos.utils import timeit, get_swap_dict from ast import literal_eval from scipy.spatial import KDTree +import inspect from webcolors import CSS3_HEX_TO_NAMES, hex_to_rgb pd.options.mode.chained_assignment = None # default='warn' + # from dash_dict import * def convert_rgb_to_names(rgb_tuple): - # a dictionary of all the hex and their respective names in css3 css3_db = CSS3_HEX_TO_NAMES names = [] @@ -76,11 +78,7 @@ def process_legend(tr, trace_dict): # input_json_path = sys.argv[1] def color_to_name(input): - if ( - isinstance(input, list) - or isinstance(input, np.ndarray) - or isinstance(input, tuple) - ): + if isinstance(input, list) or isinstance(input, np.ndarray) or isinstance(input, tuple): l = [] for colors in input: if colors.startswith("rgb"): @@ -146,19 +144,13 @@ def __init__(self, *args, **kwargs): # input data input_data = None - if self.config_dict["Category"]["ideogram"]["patch"]["file"].get( - "dataframe", {} - ): + if self.config_dict["Category"]["ideogram"]["patch"]["file"].get("dataframe", {}): input_data = self.config_dict["Category"]["ideogram"]["patch"]["file"].get( "dataframe", None ) else: - if isfile( - self.config_dict["Category"]["ideogram"]["patch"]["file"]["path"] - ): - input_data = self.config_dict["Category"]["ideogram"]["patch"]["file"][ - "path" - ] + if isfile(self.config_dict["Category"]["ideogram"]["patch"]["file"]["path"]): + input_data = self.config_dict["Category"]["ideogram"]["patch"]["file"]["path"] elif isfile( os.path.dirname(self.input_json_path) + "/" @@ -174,15 +166,15 @@ def __init__(self, *args, **kwargs): self.chr_info = coord_config.chr_info( input_data, sep=self.config_dict["Category"]["ideogram"]["patch"]["file"]["sep"], - custom_label=self.config_dict["Category"]["ideogram"]["patch"][ - "customoptions" - ]["customlabel"], - custom_spacing=self.config_dict["Category"]["ideogram"]["patch"][ - "customoptions" - ]["customspacing"], - custom_color=self.config_dict["Category"]["ideogram"]["patch"][ - "customoptions" - ]["customcolor"], + custom_label=self.config_dict["Category"]["ideogram"]["patch"]["customoptions"][ + "customlabel" + ], + custom_spacing=self.config_dict["Category"]["ideogram"]["patch"]["customoptions"][ + "customspacing" + ], + custom_color=self.config_dict["Category"]["ideogram"]["patch"]["customoptions"][ + "customcolor" + ], ) else: print('["ERROR"] Error in ideogram') @@ -264,12 +256,10 @@ def np_list_concat(self, x): raise ValueError("input must be an ndarray or a list") def get_read_data(self, key): - items = self.categories[key] sortindices = self.get_data_array_sortindex(key) def get_single_data(item, key, sortindex=None): - assert isinstance(item, dict) if item["file"]["header"] in ["None", None, "none"]: @@ -308,50 +298,36 @@ def get_single_data(item, key, sortindex=None): ] def get_chr_info(self): - # chr_info_file = self.config_dict['Category']['ideogram']['patch']['file'] # custom_options = self.config_dict['Category']['ideogram']['patch']['customoptions'] chr_info_dict = coord_config.chr_info( self.config_dict["Category"]["ideogram"]["patch"]["file"]["path"], sep=self.config_dict["Category"]["ideogram"]["patch"]["file"]["sep"], - custom_label=self.config_dict["Category"]["ideogram"]["patch"][ - "customoptions" - ]["customlabel"], - custom_spacing=self.config_dict["Category"]["ideogram"]["patch"][ - "customoptions" - ]["customspacing"], - custom_color=self.config_dict["Category"]["ideogram"]["patch"][ - "customoptions" - ]["customcolor"], + custom_label=self.config_dict["Category"]["ideogram"]["patch"]["customoptions"][ + "customlabel" + ], + custom_spacing=self.config_dict["Category"]["ideogram"]["patch"]["customoptions"][ + "customspacing" + ], + custom_color=self.config_dict["Category"]["ideogram"]["patch"]["customoptions"][ + "customcolor" + ], ) return chr_info_dict def get_ideogram_coord_config(self): - ideogram_coord_config = coord_config.ideogram_coord_config( # self.get_chr_info(), self.chr_info, npoints=self.config_dict["Category"]["ideogram"]["patch"]["npoints"], - show_major_tick=self.config_dict["Category"]["ideogram"]["majortick"][ - "show" - ], - major_tick_spacing=self.config_dict["Category"]["ideogram"]["majortick"][ - "spacing" - ], - show_minor_tick=self.config_dict["Category"]["ideogram"]["minortick"][ - "show" - ], - minor_tick_spacing=self.config_dict["Category"]["ideogram"]["minortick"][ - "spacing" - ], - show_tick_label=self.config_dict["Category"]["ideogram"]["ticklabel"][ - "show" - ], - tick_label_spacing=self.config_dict["Category"]["ideogram"]["ticklabel"][ - "spacing" - ], + show_major_tick=self.config_dict["Category"]["ideogram"]["majortick"]["show"], + major_tick_spacing=self.config_dict["Category"]["ideogram"]["majortick"]["spacing"], + show_minor_tick=self.config_dict["Category"]["ideogram"]["minortick"]["show"], + minor_tick_spacing=self.config_dict["Category"]["ideogram"]["minortick"]["spacing"], + show_tick_label=self.config_dict["Category"]["ideogram"]["ticklabel"]["show"], + tick_label_spacing=self.config_dict["Category"]["ideogram"]["ticklabel"]["spacing"], ) return ideogram_coord_config @@ -411,16 +387,12 @@ def single_ring_dict(path, ring_dict): elif isinstance(self.categories["ring"], list): path = [*map(lambda x: self.ideogram_path(x), self.get_ring_complex())] - path_dict = [ - *map(lambda x, y: single_ring_dict(x, y), path, self.categories["ring"]) - ] + path_dict = [*map(lambda x, y: single_ring_dict(x, y), path, self.categories["ring"])] return path_dict def get_major_tick_path(self): - major_tick_accum_coord_list = self.ideogram_coord_config[ - "major_tick_accum_coord_list" - ] + major_tick_accum_coord_list = self.ideogram_coord_config["major_tick_accum_coord_list"] major_tick_theta = self.ideogram_tick_theta_list( self.ideogram_coord_config, major_tick_accum_coord_list, @@ -434,9 +406,7 @@ def get_major_tick_path(self): return self.tick_path(major_tick_complex) def get_minor_tick_path(self): - minor_tick_accum_coord_list = self.ideogram_coord_config[ - "minor_tick_accum_coord_list" - ] + minor_tick_accum_coord_list = self.ideogram_coord_config["minor_tick_accum_coord_list"] minor_tick_theta = self.ideogram_tick_theta_list( self.ideogram_coord_config, minor_tick_accum_coord_list, @@ -474,20 +444,16 @@ def pathjoin(self, path_list): return " ".join(path_list) def get_data_array_dict(self, key): - assert key in self.categories items = self.categories[key] # print('key is {}'.format(key)) # print(items) if key == "ideogram": - raise ValueError( - "ideogram information should not be parsed in get_data_array()" - ) + raise ValueError("ideogram information should not be parsed in get_data_array()") else: def single_data_array(key, item): - if "colorcolumn" not in item.keys(): item["colorcolumn"] = None if "sortbycolor" not in item.keys(): @@ -502,15 +468,9 @@ def single_data_array(key, item): else: if isfile(item["file"]["path"]): input_data = item["file"]["path"] - elif isfile( - os.path.dirname(self.input_json_path) - + "/" - + item["file"]["path"] - ): + elif isfile(os.path.dirname(self.input_json_path) + "/" + item["file"]["path"]): input_data = ( - os.path.dirname(self.input_json_path) - + "/" - + item["file"]["path"] + os.path.dirname(self.input_json_path) + "/" + item["file"]["path"] ) # item['file']['path']=file_path @@ -547,7 +507,6 @@ def single_data_array(key, item): # print(key) def get_data_array(self, key): - # if self.get_data_array_dict(key) is None: if self.get_data[key] is None: pass @@ -581,18 +540,14 @@ def get_data_complexes(self, key, return_path=True): # print(data_array) def single_data_complex(data_array, key, item): - if key != "highlight": - if key == "cytoband": item["radius"] = self.ideogram_radius_dict elif key == "annotation" and item["customradius"]: try: assert isinstance(item["radiuscolumn"], int) except AssertionError: - print( - f"[WARN] Please enter a valid radiuscolumn under annotation" - ) + print(f"[WARN] Please enter a valid radiuscolumn under annotation") try: radiuscolumn = item["radiuscolumn"] except IndexError: @@ -606,16 +561,13 @@ def single_data_complex(data_array, key, item): except Exception: print(radiuscolumn) print(data_array[:, radiuscolumn]) - print( - f"[WARN] Please make sure to enter numeric value for radius column" - ) + print(f"[WARN] Please make sure to enter numeric value for radius column") item["radius"] = {"R": data_array[:, radiuscolumn]} radius_dict = item["radius"] else: - radius_dict = { "R0": data_array[:, item["R0column"]], "R1": data_array[:, item["R1column"]], @@ -632,7 +584,6 @@ def single_data_complex(data_array, key, item): custom_offset_degree=item["customoffsetdegree"], ) else: - data_complex = self.data_complex( self.ideogram_coord_config, data_array, @@ -647,16 +598,13 @@ def single_data_complex(data_array, key, item): if isinstance(items, dict): return single_data_complex(data_array, key, items) elif isinstance(items, list): - # print("key: "+key) # print('single_data_complex data array') # print(data_array) # print('single_data_complex items') # print(items) try: - return [ - *map(lambda x, y: single_data_complex(x, key, y), data_array, items) - ] + return [*map(lambda x, y: single_data_complex(x, key, y), data_array, items)] except Exception: print(f"[WARN] debugging data_array") print(data_array) # got empty @@ -664,7 +612,6 @@ def single_data_complex(data_array, key, item): print(items) def get_hovertext(self, key): - assert key in [ "histogram", "line", @@ -687,7 +634,6 @@ def get_hovertext(self, key): assert a.shape[1] >= 3 if key in ["histogram", "tile", "heatmap"]: - list_count = [*map(lambda x: len(x), self.get_data_complexes(key))] for i in range(len(a)): @@ -729,9 +675,7 @@ def get_hovertext(self, key): # print("DEV") # print(f"j={j}") # print(f"data complexes {self.get_data_complexes(key)}") - list_count = [ - *map(lambda x: len(x), self.get_data_complexes(key)[j]) - ] + list_count = [*map(lambda x: len(x), self.get_data_complexes(key)[j])] for i in range(len(a)): k = 0 @@ -808,14 +752,12 @@ def divide(l, index): trace[-1].update(item["trace"]) elif item["colorcolumn"] == "ideogram": - chr_label = data_array[:, 0] # color = self.get_chr_info()['chr_fillcolor'] color = self.chr_info["chr_fillcolor"] tmp_trace = item["trace"].copy() for i in range(len(Complex)): - trace.append( go.Scatter( x=Complex[i].real, @@ -907,136 +849,101 @@ def trace(self): "highlight", "connector", ]: - trace += self.get_traces(key) - - number_trace = [] - for tr in trace: - if tr["uid"] in ["cytoband_tile", "transloc"] or tr["uid"].startswith( - "extra_" - ): - # print(tr) - continue - # print(tr["uid"]) - # print(tr["marker"]["color"]) - # print(type(tr["marker"]["color"])) - # if tr["uid"] not in ["genes, cytoband_tiles, transloc"] and isinstance( - # tr["marker"]["color"], np.ndarray - # ): - # print(tr["uid"]) - if isinstance(tr["marker"]["color"], list) or isinstance( - tr["marker"]["color"], tuple - ): - number_trace.extend(tr["marker"]["color"]) - elif isinstance(tr["marker"]["color"], np.ndarray): - number_trace.extend(tr["marker"]["color"].tolist()) - else: - number_trace.append(tr["marker"]["color"]) - number_trace = color_to_name(list(set(number_trace))) - # print(number_trace) - # exit() - trace_dict = {key: {} for key in number_trace} - graph_obj = [] - # Dont know why but some dot are in double needed to fix that look above - # (fix_dico = {"genes": {"size": 5}, "cnv_level": {}}) - # For all CNV level dot - for tr in trace: - if tr["uid"] == "genes" and tr["marker"]["size"] != 5: - continue - if tr["uid"].startswith("cnv_scatter") and tr["marker"]["opacity"] != 1: - continue - if tr["uid"] == "transloc": - tr["name"] = "BND" - graph_obj.append(tr) - continue - if tr["uid"] == "cytoband_tile": - tr["name"] = "CYTOBAND" - graph_obj.append(tr) - continue - if tr["uid"].startswith("extra_"): - graph_obj.append(tr) - continue - # if tr["uid"] not in ["genes, cytoband_tiles, transloc"]: - # Becarefull a value alone for SNV indels - # if isinstance(tr["marker"]["color"], np.ndarray): - # For each dot per trace - # if tr["uid"] in uid_list: - # continue - # print(tr["uid"]) - if isinstance(tr["marker"]["color"], str): - tr["marker"]["color"] = [tr["marker"]["color"]] - for j, color in enumerate(tr["marker"]["color"]): - # Issues with cytoband only chr1 and 11 displayed - # trace_dict.update(process_legend(color, tr, trace_dict)) - color = color_to_name(color) - # For each item in dot - for key, val in vars(tr)["_orphan_props"].items(): - if isinstance(val, str): - if key not in trace_dict[color]: - trace_dict[color][key] = val - elif isinstance(val, np.ndarray): - if key not in trace_dict[color]: - trace_dict[color][key] = [] - trace_dict[color][key].append(val[j]) - elif isinstance(val, list): - if key not in trace_dict[color]: - trace_dict[color][key] = [] - trace_dict[color][key].append(val[j]) - elif isinstance(val, dict): - if key not in trace_dict[color]: - trace_dict[color][key] = {} - for k, v in val.items(): - if ( - isinstance(v, str) - or isinstance(v, int) - or isinstance(v, float) - ): - if k not in trace_dict[color][key]: - trace_dict[color][key][k] = v - elif isinstance(v, np.ndarray): - if k not in trace_dict[color][key]: - trace_dict[color][key][k] = [] - trace_dict[color][key][k].append(v[j]) - elif isinstance(v, list): - if k not in trace_dict[color][key]: - trace_dict[color][key][k] = [] - trace_dict[color][key][k].append(v[j]) - # uid_list.append(tr["uid"]) - # exit() - # print(trace_dict) - # exit() - # except ValueError: - # print(trace_dict) - # exit() - # print(trace_dict) - # exit() - - # cast_color = { - # "brown": "CNV", - # "mediumorchid": "INV", - # "royalblue": "DUP", - # "crimson": "INS", - # "dimgray": "SNV/INDELS", - # "darkorange": "DEL", - # "lightgray": "Genes", - # "gray": "intermediary", - # "blue": "transloc", - # "firebrick": "Morbid genes", - # } - cast_color = get_swap_dict(self.options["Color"]) - trace_ = [] - for clrs, values in trace_dict.items(): - values["name"] = cast_color[clrs] - trace_.append(go.Scatter(values)) - # exit() - for val in graph_obj: - if not "name" in val: - val["name"] = val["uid"] - if "name" not in ["BND", "CYTOBAND"]: - val["showlegend"] = False - trace_.append(val) - # print(val) - return trace_ + if hasattr(self, "options") and self.options: + number_trace = [] + for tr in trace: + if tr["uid"] in ["cytoband_tile", "transloc", None] or tr["uid"].startswith( + "extra_" + ): + continue + if isinstance(tr["marker"]["color"], list) or isinstance( + tr["marker"]["color"], tuple + ): + number_trace.extend(tr["marker"]["color"]) + elif isinstance(tr["marker"]["color"], np.ndarray): + number_trace.extend(tr["marker"]["color"].tolist()) + else: + number_trace.append(tr["marker"]["color"]) + number_trace = color_to_name(list(set(number_trace))) + # print(number_trace) + # exit() + trace_dict = {key: {} for key in number_trace} + graph_obj = [] + # Dont know why but some dot are in double needed to fix that look above + # For all CNV level dot + for tr in trace: + if tr["uid"] is not None: + if tr["uid"] == "genes" and tr["marker"]["size"] != 5: + continue + if tr["uid"].startswith("cnv_scatter") and tr["marker"]["opacity"] != 1: + continue + if tr["uid"] == "transloc": + tr["name"] = "BND" + graph_obj.append(tr) + continue + if tr["uid"] == "cytoband_tile": + tr["name"] = "CYTOBAND" + graph_obj.append(tr) + continue + if tr["uid"].startswith("extra_"): + graph_obj.append(tr) + continue + # if tr["uid"] not in ["genes, cytoband_tiles, transloc"]: + # Becarefull a value alone for SNV indels + if isinstance(tr["marker"]["color"], str): + tr["marker"]["color"] = [tr["marker"]["color"]] + for j, color in enumerate(tr["marker"]["color"]): + # Issues with cytoband only chr1 and 11 displayed + # trace_dict.update(process_legend(color, tr, trace_dict)) + color = color_to_name(color) + # For each item in dot + for key, val in vars(tr)["_orphan_props"].items(): + if isinstance(val, str): + if key not in trace_dict[color]: + trace_dict[color][key] = val + elif isinstance(val, np.ndarray): + if key not in trace_dict[color]: + trace_dict[color][key] = [] + trace_dict[color][key].append(val[j]) + elif isinstance(val, list): + if key not in trace_dict[color]: + trace_dict[color][key] = [] + trace_dict[color][key].append(val[j]) + elif isinstance(val, dict): + if key not in trace_dict[color]: + trace_dict[color][key] = {} + for k, v in val.items(): + if ( + isinstance(v, str) + or isinstance(v, int) + or isinstance(v, float) + ): + if k not in trace_dict[color][key]: + trace_dict[color][key][k] = v + elif isinstance(v, np.ndarray): + if k not in trace_dict[color][key]: + trace_dict[color][key][k] = [] + trace_dict[color][key][k].append(v[j]) + elif isinstance(v, list): + if k not in trace_dict[color][key]: + trace_dict[color][key][k] = [] + trace_dict[color][key][k].append(v[j]) + cast_color = get_swap_dict(self.options["Color"]) + trace_ = [] + for clrs, values in trace_dict.items(): + values["name"] = cast_color[clrs] + trace_.append(go.Scatter(values)) + # exit() + for val in graph_obj: + if not "name" in val: + val["name"] = val["uid"] + if "name" not in ["BND", "CYTOBAND"]: + val["showlegend"] = False + trace_.append(val) + return trace_ + else: + return trace def get_paths_dict(self, key): # will join path_list into a path string if sortbycolor @@ -1051,7 +958,6 @@ def get_paths_dict(self, key): data_complexes = self.get_data_complexes(key) def single_path(key, data_array, data_complex, item): - if key in ["ribbon", "twistedribbon"]: interval_theta_array_0 = maths.to_theta( data_array[:, 1:3], self.SUM, degreerange=self.degreerange @@ -1088,7 +994,6 @@ def single_path(key, data_array, data_complex, item): ) if item["colorcolumn"] in [None, "None"]: - path = " ".join(path_list) paths_dict = dict(path=path) paths_dict.update(item["layout"]) @@ -1100,11 +1005,8 @@ def single_path(key, data_array, data_complex, item): paths_dict = [] if item["colorcolumn"] == "ideogram": - if not key == "area": - color = [ - *map(lambda x: self.chr_color_dict[x], data_array[:, 0]) - ] + color = [*map(lambda x: self.chr_color_dict[x], data_array[:, 0])] else: # color = self.get_chr_info()['chr_fillcolor'] @@ -1142,7 +1044,6 @@ def single_path(key, data_array, data_complex, item): "area", "histogram", ]: - for i in range(len(path_list)): paths_dict.append(dict(path=path_list[i])) @@ -1157,7 +1058,6 @@ def single_path(key, data_array, data_complex, item): return paths_dict if isinstance(items, dict): - if isinstance(single_path(key, data_arrays, data_complexes, items), dict): return [single_path(key, data_arrays, data_complexes, items)] else: @@ -1233,13 +1133,10 @@ def get_annotations_dict(self): text = [*map(lambda x: "{}".format(x), text_array)] if len(text_array) == 1: - annotation_dict = dict( x=text_complex.real, y=text_complex.imag, text=text, textangle=textangle ) - annotation_dict.update( - copy.deepcopy(self.categories["annotation"]["layout"]) - ) + annotation_dict.update(copy.deepcopy(self.categories["annotation"]["layout"])) return [annotation_dict] else: if not self.categories["annotation"]["customcolor"]: @@ -1274,9 +1171,7 @@ def get_annotations_dict(self): ] return annotation_dict_list - def angleconvert( - self, theta, angleoffset=-90, anglelimit=360, custom_offset_degree=0 - ): + def angleconvert(self, theta, angleoffset=-90, anglelimit=360, custom_offset_degree=0): # theta could be an ndarray or a list of ndarray # returns a processed degree data based on anglelimit # anglelimit is the degree limit before applying angleoffset and custom_offset! @@ -1287,7 +1182,6 @@ def angleconvert( assert isinstance(anglelimit, (int, float)) if not isinstance(theta, list): - degree = theta * constant for i in range(len(degree)): @@ -1318,14 +1212,11 @@ def layout(self): layout_annotations = [] if self.ideogram_patch["show"]: - if not self.ideogram_patch["showfillcolor"]: # if no show fillcolor, there is no need to separate pathstring into list, hense the join # seems like for dictionary update, the dict variable needs to be defined first - ideogram_pathstring = self.pathjoin( - self.ideogram_path(self.get_ideogram_complex()) - ) + ideogram_pathstring = self.pathjoin(self.ideogram_path(self.get_ideogram_complex())) layout_dict = self.ideogram_patch["layout"] layout_dict.update(dict(path=ideogram_pathstring)) @@ -1344,7 +1235,6 @@ def layout(self): layout_shapes[i].update(self.ideogram_patch["layout"]) if self.ideogram_patch["chrannotation"]["show"]: - chrannot_theta = self.get_ideogram_chrannot_theta() chrannot_theta = self.np_list_concat(chrannot_theta) @@ -1355,12 +1245,8 @@ def layout(self): chrannot_complex = self.np_list_concat(chrannot_complex) - chrannot_angleoffset = self.ideogram_patch["chrannotation"]["textangle"][ - "angleoffset" - ] - chrannot_anglelimit = self.ideogram_patch["chrannotation"]["textangle"][ - "anglelimit" - ] + chrannot_angleoffset = self.ideogram_patch["chrannotation"]["textangle"]["angleoffset"] + chrannot_anglelimit = self.ideogram_patch["chrannotation"]["textangle"]["anglelimit"] if self.ideogram_patch["chrannotation"]["fonttype"] == "bold": chrannot_text = [ @@ -1408,7 +1294,6 @@ def layout(self): ) for i in range(len(chrannot_complex)): - layout_annotations.append( dict( x=chrannot_complex[i].real, @@ -1417,25 +1302,18 @@ def layout(self): textangle=textangle[i], ) ) - layout_annotations[i].update( - self.ideogram_patch["chrannotation"]["layout"] - ) + layout_annotations[i].update(self.ideogram_patch["chrannotation"]["layout"]) if self.ideogram_majortick["show"]: - layout_shapes.append(dict(path=self.get_major_tick_path())) layout_shapes[-1].update(self.ideogram_majortick["layout"]) if self.ideogram_minortick["show"]: - layout_shapes.append(dict(path=self.get_minor_tick_path())) layout_shapes[-1].update(self.ideogram_minortick["layout"]) if self.ideogram_ticklabel["show"]: - - ticklabel_text = self.get_ideogram_coord_config()[ - "tick_label_non_accum_list" - ] + ticklabel_text = self.get_ideogram_coord_config()["tick_label_non_accum_list"] if isinstance(ticklabel_text, list): ticklabel_text = np.concatenate(ticklabel_text) @@ -1454,24 +1332,16 @@ def layout(self): ticklabel_complex = np.concatenate(self.get_tick_label_complex()) if self.ideogram_ticklabel["textformat"] == "Kb": - ticklabel_text = [ - *map(lambda x: "{} Kb".format(x // 1000), ticklabel_text) - ] + ticklabel_text = [*map(lambda x: "{} Kb".format(x // 1000), ticklabel_text)] elif self.ideogram_ticklabel["textformat"] == "Mb": - ticklabel_text = [ - *map(lambda x: "{} Mb".format(x // 1000000), ticklabel_text) - ] + ticklabel_text = [*map(lambda x: "{} Mb".format(x // 1000000), ticklabel_text)] elif self.ideogram_ticklabel["textformat"] == "Gb": - ticklabel_text = [ - *map(lambda x: "{} Gb".format(x // 1000000000), ticklabel_text) - ] + ticklabel_text = [*map(lambda x: "{} Gb".format(x // 1000000000), ticklabel_text)] else: - raise ValueError( - "acceptable ideogram ticklabel textformats are: Kb & Mb & Gb" - ) + raise ValueError("acceptable ideogram ticklabel textformats are: Kb & Mb & Gb") for i in range(len(ticklabel_complex)): layout_annotations.append( @@ -1516,7 +1386,6 @@ def layout(self): try: layout_shapes.extend(sum(self.get_paths_dict(key), [])) except Exception: - print("[WARN] Error trying to plot multiple {}".format(key)) print(self.get_paths_dict(key)) break @@ -1542,10 +1411,21 @@ def layout(self): @timeit def fig(self): - # print(self.trace()) try: - return go.Figure(data=self.trace(), layout=self.layout()) - except Exception: + trace_obj = self.trace() + for datas in trace_obj: + if hasattr(datas, "marker") and hasattr(datas, "text"): + if datas["marker"]["color"] is not None: + if len(datas["marker"]["color"]) != len(datas["text"]): + datas["marker"]["color"] = np.repeat( + self.options["Color"][datas["name"]], len(datas["text"]) + ) + #with open("trace_layout_new.json", "w+") as trace: + # js = plotly.io.to_json(go.Figure(data=trace_obj, layout=self.layout()), pretty=True) + # trace.write(js) + + return go.Figure(data=trace_obj, layout=self.layout()) + except IndexError: # to deal with an issue like this when using dash (specifically line plot): ## self.trace() => [Scatter(x0), [Scatter(x1), Scatter(x2), Scatter(x3),]] return go.Figure( diff --git a/vcf2circos/parseargs.py b/vcf2circos/parseargs.py index 19d4e37..e29f5cb 100644 --- a/vcf2circos/parseargs.py +++ b/vcf2circos/parseargs.py @@ -37,21 +37,21 @@ def parseargs(self): "--options", type=str, required=False, - help="""Options file or string.\nFormat is 'json', either in a file or as a string.""", - ) - parser.add_argument( - "-n", - "--notebook_mode", - type=bool, - required=False, - help="""Notebook mode.\nDefault False""", + help="""Options file in json format""", ) + # parser.add_argument( + # "-n", + # "--notebook_mode", + # type=bool, + # required=False, + # help="""Notebook mode.\nDefault False""", + # ) parser.add_argument( "-a", "--assembly", type=str, required=False, - help="""Genome assembly to use for now values available (hg19, hg38)""" + help="""Genome assembly to use for now values available (hg19, hg38)""", ) # Parse args return parser.parse_args() diff --git a/vcf2circos/plotcategories/cytoband.py b/vcf2circos/plotcategories/cytoband.py index 83e8756..76b4804 100644 --- a/vcf2circos/plotcategories/cytoband.py +++ b/vcf2circos/plotcategories/cytoband.py @@ -1,4 +1,5 @@ from vcf2circos.plotcategories.plotconfig import Plotconfig +from vcf2circos.utils import chr_valid from os.path import join as osj from itertools import repeat import pandas as pd @@ -38,6 +39,16 @@ def __init__(self, plotconfig): header=0, compression="infer", ) + self.chr_conf = pd.read_csv( + osj( + self.options["Static"], + "Assembly", + self.options["Assembly"], + "chr." + self.options["Assembly"] + ".sorted.txt", + ), + sep="\t", + header=0, + ) self.colorcolumn = 3 self.sortbycolor = "True" self.hovertextformat = ' "{}".format(a[i,0])' @@ -58,10 +69,20 @@ def __getattr__(self, item): if hasattr(self.plotconfig, item): return getattr(self.plotconfig, item) - def data_cytoband(self): - tmp = self.cytoband_conf.loc[ - self.cytoband_conf["chr_name"].isin(self.data["Chromosomes"]) - ] + def data_cytoband(self, chr_bnd): + """ + histo band which will contains cytoband annotations, do not forget chromosomes carrying BND + """ + if self.options["Chromosomes"]["all"] is True: + chr_list = self.chr_conf.loc[self.chr_conf["chr_name"].isin(chr_valid())][ + "chr_name" + ].to_list() + else: + chr_list = self.data["Chromosomes"] + chr_list.extend([chrs_rec for chrs_rec in chr_bnd]) + chr_list = list(set(chr_list)) + + tmp = self.cytoband_conf.loc[self.cytoband_conf["chr_name"].isin(chr_list)] data = { "chr_name": tmp["chr_name"].to_list(), "start": tmp["start"].tolist(), @@ -71,7 +92,7 @@ def data_cytoband(self): } return data - def merge_options(self): + def merge_options(self, chr_bnd): """ cytoband then histogram in list guess for the color """ @@ -83,7 +104,7 @@ def merge_options(self): "path": "", "header": "infer", "sep": "\t", - "dataframe": {"orient": "columns", "data": self.data_cytoband()}, + "dataframe": {"orient": "columns", "data": self.data_cytoband(chr_bnd)}, } dico["sortbycolor"] = self.sortbycolor dico["colorcolumn"] = self.colorcolumn diff --git a/vcf2circos/plotcategories/histogram.py b/vcf2circos/plotcategories/histogram.py index b46a10b..e978304 100644 --- a/vcf2circos/plotcategories/histogram.py +++ b/vcf2circos/plotcategories/histogram.py @@ -253,8 +253,7 @@ def histo_cnv_level(self, cn: int) -> dict: + self.options["Variants"]["rings"]["height"] ) / 2 except TypeError: - print(cn) - print(d_file) + print("ERROR radius cnv level") exit() d["radius"] = { "R0": radius, @@ -282,6 +281,9 @@ def histo_cnv_level(self, cn: int) -> dict: return d def cytoband_tile(self, cytoband_data): + """ + Needed to have annotations in cytoband ring, invisible histogram in background of each band + """ dico_cyto = self.cytoband_data.copy() cyto = {} cyto["chr_name"] = cytoband_data["chr_name"] @@ -298,6 +300,8 @@ def cytoband_tile(self, cytoband_data): dico_cyto["layout"]["line"]["color"] = cyto["band_color"] dico_cyto["trace"]["marker"]["color"] = cyto["band_color"] + # print(dico_cyto) + # exit() return dico_cyto def merge_options(self, cytoband_data: dict) -> list: @@ -429,6 +433,7 @@ def histo_genes(self) -> dict: # print(self.df_genes.head()) ## select genes in or batch of variations (from refeseq assembly) df_filter = self.df_genes.loc[self.df_genes["gene"].isin(gene_list)] + # print(*gene_list) # print(self.df_data["Genes"].head()) @@ -487,10 +492,23 @@ def extract_start_stop_ref_alt( # infer type of var could be done before for i, info_dict in enumerate(info_field): if variant_type[i] not in ["OTHER", "SNV", "INDEL"]: + for values in ["SV_start", "SV_end", "SVLEN", "END"]: + if values in record[i].INFO: + # record[i].INFO[values] is a LIST header VCF + if isinstance(record[i].INFO[values], list): + if "|" in str(record[i].INFO[values][0]): + record[i].INFO[values] = int(str(record[i].INFO[values][0].split("|")[0])) + else: + record[i].INFO[values] = int(str(record[i].INFO[values][0])) + elif isinstance(record[i].INFO[values], str): + if "|" in record[i].INFO[values]: + record[i].INFO[values] = int(record[i].INFO[values].split("|")[0]) + else: + record[i].INFO[values] = int(record[i].INFO[values]) if "SV_start" in record[i].INFO and "SV_end" in record[i].INFO: yield ( - int(info_dict.get("SV_start").split("|")[0]), - int(info_dict.get("SV_end").split("|")[0]), + info_dict.get("SV_start"), + info_dict.get("SV_end"), record[i].REF, record[i].ALT, ) @@ -504,7 +522,7 @@ def extract_start_stop_ref_alt( elif "SVLEN" in record[i].INFO: yield ( int(record[i].POS), - int(abs(record[i].INFO["SVLEN"][0])) + int(record[i].POS), + int(abs(record[i].INFO["SVLEN"])) + int(record[i].POS), record[i].REF, record[i].ALT, ) @@ -541,7 +559,13 @@ def generate_extra_plots_from_df(self): # assert os.path.exists(f), ( # f + " file does not exists, add in Static folder" # ) - for gc_ in [gc_pos, gc_neg]: + gc_mod = osj( + self.options["Static"], + "Assembly", + self.options["Assembly"], + self.options["Assembly"] + ".gc5Base.5Mb.notnorm.txt", + ) + for gc_ in [gc_mod]: if os.path.exists(gc_): gc_dict = { "show": "True", @@ -553,8 +577,8 @@ def generate_extra_plots_from_df(self): }, "sortbycolor": "False", "colorcolumn": "None", - "radius": {"R0": 0.90, "R1": 0.94}, - "hovertextformat": ' "Chromosome: {}
Start: {}
End: {}
LogFC:{}".format(a[i,0], a[i,1], a[i,2], float(a[i,3])) ', + "radius": {"R0": 0.88, "R1": 0.92}, + "hovertextformat": ' "Chromosome: {}
Start: {}
End: {}
GC mean:{}".format(a[i,0], a[i,1], a[i,2], float(a[i,3])) ', "trace": { "hoverinfo": "text", "mode": "markers", @@ -575,7 +599,7 @@ def generate_extra_plots_from_df(self): + self.options["Assembly"] ) - if "mappability" in self.options["Extra"]: + if "mappability_old" in self.options["Extra"]: mapp_file = osj( self.options["Static"], "Assembly", @@ -631,21 +655,84 @@ def generate_extra_plots_from_df(self): "line": {"color": "black", "width": 0}, }, } + #print(data) extras.append(mappa_dict) # print(mappa_dict) # exit() - if "repeatmasker" in self.options["Extra"]: + if "mappability" in self.options["Extra"]: + filename = [ + bfiles + for bfiles in os.listdir( + osj(self.options["Static"], "Assembly", self.options["Assembly"]) + ) + if bfiles.startswith(self.options["Assembly"] + ".blacklist") + ][0] + mapp_file = osj( + self.options["Static"], "Assembly", self.options["Assembly"], filename + ) + if not os.path.exists(mapp_file): + print( + "[WARN] Blacklist Region file not in Static folder for assembly " + + self.options["Assembly"] + ) + else: + data = pd.read_csv( + mapp_file, header=None, sep="\t", compression="infer" + ) + data.columns = ["chr_name", "start", "end", "type"] + data = data.loc[data["chr_name"].isin(chr_valid())] + data["val"] = 2 + data["color"] = "red" + data["ref"] = "" + data["alt"] = "" + mappa_dict = { + "show": "True", + "customfillcolor": "False", + "file": { + "path": "", + "header": "infer", + "sep": "\t", + "dataframe": { + "orient": "columns", + "data": data.to_dict("list"), + }, + }, + "sortbycolor": "False", + "colorcolumn": 7, + "radius": {"R0": 0.80, "R1": 0.84}, + "hovertextformat": ' "Chromosome: {}
Start: {}
End: {}
Type: {}".format(a[i,0], a[i,1], a[i,2], a[i,6]) ', + "trace": { + "hoverinfo": "text", + "mode": "markers", + "marker": {"size": 0, "opacity": 0}, + "uid": "extra_mappability", + }, + "layout": { + "type": "path", + "opacity": 1, + "fillcolor": "black", + "line": {"color": "black", "width": 0}, + }, + } + data = data.loc[ + :, + ["chr_name", "start", "end", "val", "ref", "alt", "type", "color"], + ] + # exit() + # extras.append(mappa_dict) + + if "repeatmasker_old" in self.options["Extra"]: assert os.path.exists( osj( self.options["Static"], "Assembly", self.options["Assembly"], - self.options["Assembly"] + ".repeatmasker.csv", + self.options["Assembly"] + ".repeatmasker.tsv", ) ), ( "Repeat Masker file " + self.options["Assembly"] - + ".repeatmasker.csv" + + ".repeatmasker.tsv" + " not in Static folder" ) dat = pd.read_csv( @@ -653,10 +740,10 @@ def generate_extra_plots_from_df(self): self.options["Static"], "Assembly", self.options["Assembly"], - self.options["Assembly"] + ".repeatmasker.csv", + self.options["Assembly"] + ".repeatmasker.tsv", ), header=0, - sep="\t", + sep="\t", compression='infer' ) data = dat.loc[dat["chr_name"].isin(chr_valid())] data["val"] = 2 @@ -699,4 +786,48 @@ def generate_extra_plots_from_df(self): }, } extras.append(repeat_dict) + if "repeatmasker" in self.options["Extra"]: + assert os.path.exists( + osj( + self.options["Static"], + "Assembly", + self.options["Assembly"], + self.options["Assembly"] + ".repeatmasker.histo.tsv", + ) + ), ( + "Repeat Masker file " + + self.options["Assembly"] + + ".repeatmasker.histo.tsv" + + " not in Static folder" + ) + repeat_dict = {"show": "True", + "customfillcolor": "False", + "file": { + "path": osj( + self.options["Static"], + "Assembly", + self.options["Assembly"], + self.options["Assembly"] + ".repeatmasker.histo.tsv", + ), + "header": "infer", + "sep": "\t", + }, + "sortbycolor": "False", + "colorcolumn": "", + "radius": {"R0": 0.75, "R1": 0.79}, + "hovertextformat": ' "Chromosome: {}
Start: {}
End: {}
Type:{}".format(a[i,0], a[i,1], a[i,2])', + "trace": { + "hoverinfo": "text", + "mode": "markers", + "marker": {"size": 0, "opacity": 0}, + "uid": "extra_repeatmasker", + }, + "layout": { + "type": "path", + "opacity": 1, + "fillcolor": "black", + "line": {"color": "black", "width": 0}, + }, + } + extras.append(repeat_dict) return extras diff --git a/vcf2circos/plotcategories/ideogram.py b/vcf2circos/plotcategories/ideogram.py index 20fc540..e77fc8e 100644 --- a/vcf2circos/plotcategories/ideogram.py +++ b/vcf2circos/plotcategories/ideogram.py @@ -1,37 +1,16 @@ from vcf2circos.plotcategories.plotconfig import Plotconfig -from vcf2circos.utils import Colorpal +from vcf2circos.utils import Colorpal, chr_valid import pandas as pd from os.path import join as osj -import os # space, space between ring in option.example.json # height hauteur du ring # positon position from center -# just for test -# data = { -# "chr_name": ["chr1", "chr2", "chr3"], -# "chr_size": [249250621, 243199373, 198022430], -# "chr_label": ["chr1", "chr2", "chr3"], -# "chr_color": ["pink", "rosybrown", "firebrick"], -# } - -list_graph_type = ["majortick", "minortick", "ticklabel"] - class Ideogram(Plotconfig): - """ - "scatter":{ - "pattern":{ - ... - }, "data":{ - ... - }} - """ - def __init__(self, plotconfig): self.plotconfig = plotconfig - # assert os.path.exists(osj(self.options["Static"], "chr_size.txt")) self.chr_conf = pd.read_csv( osj( self.options["Static"], @@ -102,7 +81,11 @@ def __init__(self, plotconfig): "xref": "x", "yref": "y", "showarrow": False, - "font": {"family": "Times New Roman", "size": 8, "color": "black",}, + "font": { + "family": "Times New Roman", + "size": 8, + "color": "black", + }, }, } @@ -115,15 +98,16 @@ def data_ideogram(self, chr_link): true_chr = self.data["Chromosomes"] true_chr.extend(chr_link) chromosomes = list(set(true_chr)) - tmp = self.chr_conf.loc[self.chr_conf["chr_name"].isin(true_chr)] + if self.options["Chromosomes"]["all"] is True: + tmp = self.chr_conf.loc[self.chr_conf["chr_name"].isin(chr_valid())] + else: + tmp = self.chr_conf.loc[self.chr_conf["chr_name"].isin(chromosomes)] data = { "chr_name": tmp["chr_name"].to_list(), "chr_size": tmp["size"].to_list(), "chr_label": tmp["chr_name"].to_list(), "chr_color": list(Colorpal(len(tmp["chr_name"].to_list()))), } - # exit() - print(tmp) return data def merge_options(self, chr_link): @@ -163,4 +147,3 @@ def merge_options(self, chr_link): dico["minortick"] = self.minortick dico["ticklabel"] = self.ticklabel return dico - # Loopable as fuck diff --git a/vcf2circos/plotcategories/link.py b/vcf2circos/plotcategories/link.py index 6bb6db7..6ed7743 100644 --- a/vcf2circos/plotcategories/link.py +++ b/vcf2circos/plotcategories/link.py @@ -52,7 +52,7 @@ def adapt_data(self): data.append(tmp) # for val in data: # print(val.keys()) - # print(val[list(val.keys())[0]]["values"]) + # print(val[list(val.keys())[0]]["values"] return data def extract_chr_pos_hover_from_bnd(self, string: str, record: object) -> int: diff --git a/vcf2circos/plotcategories/plotconfig.py b/vcf2circos/plotcategories/plotconfig.py index 979448a..36998e5 100644 --- a/vcf2circos/plotcategories/plotconfig.py +++ b/vcf2circos/plotcategories/plotconfig.py @@ -17,6 +17,7 @@ from vcf2circos.utils import timeit, cast_svtype from pprint import pprint import vcf +import time class Plotconfig: @@ -42,15 +43,8 @@ def __init__( rangescale: list, config_ring: dict, ): - # super().__init__(filename, options) self.filename = filename self.options = options - self.default_options = json.load( - open( - osj(self.options["Static"] + "/options.general.json"), - "r", - ) - ) if not self.options.get("General", {}).get("title", None): self.options["General"]["title"] = os.path.basename(filename) self.show = self.cast_bool(show) @@ -63,22 +57,8 @@ def __init__( self.layout = layout self.rangescale = rangescale self.config_ring = config_ring - self.vcf_reader = vcf.Reader( - filename=filename, strict_whitespace=True, encoding="utf-8" - ) + self.vcf_reader = vcf.Reader(filename=filename, strict_whitespace=True, encoding="utf-8") self.colors = self.options["Color"] - # self.refgene_genes = osj( - # self.options["Static"], - # "Assembly", - # self.options["Assembly"], - # "genes." + self.options["Assembly"] + "sorted.txt", - # ) - # self.refgene_exons = osj( - # self.options["Static"], - # "Assembly", - # self.options["Assembly"], - # "exons." + self.options["Assembly"] + ".txt.gz", - # ) # In case of non coding genes (even in coding genes but same CDS) multiple lines, keep only the first to have non redundant file self.df_genes = pd.read_csv( osj( @@ -118,18 +98,7 @@ def __init__( ) # Last function to be called to generate class attribute self.data = self.process_vcf() - self.df_data = pd.DataFrame.from_dict(self.data) # .astype( - # { - # "Chromosomes": str, - # "Genes": str, - # "Exons": str, - # "Variants": object, - # "Variants_type": str, - # "CopyNumber": int, - # "Color": str, - # } - # ) - # self.df_data = self.data_nan_formatting() + self.df_data = pd.DataFrame.from_dict(self.data) def data_nan_formatting(self): df_tmp = pd.DataFrame.from_dict(self.data) @@ -159,21 +128,11 @@ def cast_bool(value: bool) -> str: else: return "False" - def get_file_features(): - pass - - def get_snvindels_overlapping_sv(self): - pass - - def vcf_options_default(self): - pass - @timeit def process_vcf(self) -> dict: """ Process Just one time vcf variants in a dict which contains all required informations for all type of var used after, Act as a plotconfig main\n - From vcfreader antony explode_category_file_dict_into_dataframe """ data = { "Chromosomes": [], @@ -195,11 +154,11 @@ def process_vcf(self) -> dict: or not self.options["Chromosomes"]["list"] ): # particular process for breakend - if self.get_copynumber_type(record)[0] in ["BND", "TRA"]: + if self.get_copynumber_type(record)[0] in ["BND"]: self.breakend_record.append(record) - # self.breakend_genes.append(self.get_genes_var(record)) + elif self.get_copynumber_type(record)[0] in ["TRA"]: + continue else: - # print(record.INFO["SV"]) data["Chromosomes"].append(self.chr_adapt(record)) data["Genes"].append(self.get_genes_var(record)) data["Exons"].append("") @@ -207,6 +166,11 @@ def process_vcf(self) -> dict: data["Record"].append(record) data["Variants"].append(record.INFO) svtype, copynumber = self.get_copynumber_type(record) + #if record.CHROM == "chr6" and record.POS == 1089464612 : + # print(record) + # print(record.INFO) + # print(self.get_copynumber_type(record)) + # #exit() # ensure svtype is in capslock svtype = svtype.upper() assert svtype in self.options["Color"], ( @@ -221,6 +185,7 @@ def process_vcf(self) -> dict: ) + " check your vcf Exit" ) + assert isinstance(copynumber, int), "ERROR wrong copy number" data["Variants_type"].append(svtype) try: data["Color"].append(self.colors[svtype]) @@ -232,24 +197,12 @@ def process_vcf(self) -> dict: if copynumber > 5 and svtype not in ["SNV", "INDEL", "OTHER"]: copynumber = 5 data["CopyNumber"].append(copynumber) - - # test - # def replace_(dico): - # rep = "" - # excl = ["None", None] - # for - - # TESTTTTTTTTT - # self.breakend_record = [] - # return ( - # pd.DataFrame.from_dict(data) - # .loc[pd.DataFrame.from_dict(data)["Chromosomes"] == "chr1"] - # .to_dict("list") - # ) - # exit() return data def chr_adapt(self, record: object) -> str: + """ + from PyVCF record return chromosome with 'chr' + """ try: re.match(r"[0-9]", record.CHROM).group() return "chr" + record.CHROM @@ -273,6 +226,8 @@ def get_copynumber_type(self, record: object) -> tuple: cn = cn.replace(">", "") return ("CNV", int(cn[-1])) # if both copy number and sv type in alt + if str(record.ALT[0]) == "": + return ("TRA", 2) if str(record.ALT[0]).startswith("<"): alt_tmp = str(record.ALT[0]).split(":") if len(alt_tmp) > 1: @@ -304,12 +259,12 @@ def get_copynumber_type(self, record: object) -> tuple: for key, val in rep.items(): svtype = svtype.replace(key, val) # in case of copy number in alt - if re.search(r"$[0-9]+", svtype).group(): + if re.search(r"$[0-9]+", svtype) != None: copynumber = re.search(r"$[0-9]+", svtype).group() return (cast_svtype(svtype), copynumber) else: svtype = svtype.split(":")[0] - if len(svtype) > 1: + if len(svtype) > 1 and isinstance(svtype, list): copynumber = svtype[1] return (cast_svtype(svtype), copynumber) else: @@ -335,7 +290,10 @@ def get_copynumber_values(self, svtype: str, record: object) -> int: REQUIRED monosample vcf """ if record.INFO.get("CN") is not None: - return int(record.INFO.get("CN")) + if isinstance(record.INFO.get("CN"), list): + return int(record.INFO.get("CN")[0]) + else: + return int(record.INFO.get("CN")) # list of sample TODO working only if vcf monosample else: # Need verificatons TODO @@ -363,13 +321,24 @@ def get_copynumber_values(self, svtype: str, record: object) -> int: def find_record_gene(self, coord: list) -> list: """ - Greedy, for now need good info in vcf annotations + From genomic coordinate, return a list of overlapping gene (if genes are not provided in info field)\n + Greedy for now """ if isinstance(coord[2], list): coord[2] = coord[2].split("|") gene_list = [] # only chr for this variants refgene_chr = self.df_genes.loc[self.df_genes["chr_name"] == coord[0]] + # 1Mb up and downstream + if self.options["Genes"]["extend"]: + # print(*[type(f) for f in coord]) + coord[1] = coord[1] - 1000000 + coord[2] = coord[2] + 1000000 + # if 1Mb down reach 0 in genomic position + if coord[1] < 0: + coord[1] = 0 + # print(coord) + # exit() for j, rows in refgene_chr.iterrows(): # variant start begin before a gene and stop inside or after if coord[1] <= rows["start"] and ( @@ -384,10 +353,7 @@ def find_record_gene(self, coord: list) -> list: break return list(set(gene_list)) - def from_gene_to_unique(self, string: str) -> str: - """ - example from IFT140|IFT140 to IFT140 if all values are the same otherwise keep all - """ + def string_to_unique(self, string): if "|" in string: return ",".join(list(set(string.split("|")))) elif "," in string: @@ -395,106 +361,128 @@ def from_gene_to_unique(self, string: str) -> str: else: return string + def from_gene_to_unique(self, values: str) -> str: + """ + example from IFT140|IFT140 to IFT140 if all values are the same otherwise keep all + """ + if isinstance(values, str): + return self.string_to_unique(values) + elif isinstance(values, list): + return ",".join([self.string_to_unique(f) for f in values]) + else: + print("ERROR in Gene_name ", values) + exit() + + def get_sv_length_annotations(self, record, field): + #if field == "SV_end": + # gene_name = self.find_record_gene( + # [ + # record.CHROM, + # record.POS, + # int(float(self.string_to_unique(record.INFO["SV_end"])[0])), + # ] + # ) + # return gene_name + #if isinstance(record.INFO[field], int): + # gene_name = self.find_record_gene( + # [record.CHROM, record.POS, int(record.POS) + record.INFO[field]] + # ) + if field in ["SV_length", "SVLEN"]: + gene_name = self.find_record_gene( + [record.CHROM, record.POS, record.POS+abs(record.INFO[field])] + ) + elif field in ["SV_end", "END"]: + gene_name = self.find_record_gene( + [record.CHROM, record.POS, record.INFO[field]] + ) + else: + gene_name = [] + return gene_name + #elif isinstance(record.INFO[field], list): + # if isinstance(record.INFO[field][0], int): + # gene_name = self.find_record_gene( + # [ + # record.CHROM, + # record.POS, + # int(record.POS) + int(float(record.INFO[field][0])), + # ] + # ) + # else: + # gene_name = self.find_record_gene( + # [ + # record.CHROM, + # record.POS, + # int(record.POS) + int(float(self.string_to_unique(record.INFO[field][0]))), + # ] + # ) + #else: + # gene_name = self.find_record_gene( + # [ + # record.CHROM, + # record.POS, + # int(record.POS) + int(float(self.string_to_unique(record.INFO[field])[0])), + # ] + # ) + #return gene_name + def get_genes_var(self, record: object) -> str: - # refgene_genes = pd.read_csv( - # osj( - # self.options["Static"], - # "Assembly", - # self.options["Assembly"], - # "genes." + self.options["Assembly"] + ".sorted.txt", - # ), - # sep="\t", - # header=0, - # # compression="infer", - # ) - # print(*refgene_genes.columns) - # .drop_duplicates(subset=["gene"], keep="first") + """ + From PyVCF record return str containing list of overlapping genes\n + Translocation have a different process, conf link class + If extend options in config (get all genes located in 1Mb up and downstream of sv boundaries) + """ + bad_values = [None, "", "."] + bad_svtype = ["BND", "TRA", None] + types_ = ["SVLEN", "SV_length","SV_end", "END"] + gene_name = record.INFO.get("Gene_name") + # Add chr if missing record.CHROM = self.chr_adapt(record) - if isinstance(gene_name, str): - return self.from_gene_to_unique(gene_name) - elif isinstance(gene_name, list): - return ",".join(gene_name) - # No Gene_name annotation need to find overlapping gene in sv - if gene_name is None: - if record.INFO.get("SVTYPE") not in [ - "BND, TRA", - "INV", - None, - ] or record.INFO.get("SV_type") not in ["BND, TRA", "INV", None]: - # if record.INFO.get("SVTYPE") != None or record.INFO.get("SV_type") != None: - # assert "SVLEN" in record.INFO - - # print(record.INFO["SVLEN"]) + if not self.options["Genes"]["extend"]: + # get overlapping genes in Gene_name INFO field + if gene_name not in bad_values and isinstance(gene_name, str): + return self.from_gene_to_unique(gene_name) + elif isinstance(gene_name, list) and gene_name[0] not in bad_values: + return self.from_gene_to_unique(gene_name) + # No Gene_name annotation need to find overlapping gene in sv + # if gene_name is None or (isinstance(gene_name, list) and gene_name[0] == None): + #if ( + # record.INFO.get("SVTYPE") not in bad_svtype + # or record.INFO.get("SV_type") not in bad_svtype + #): + if any([val for val in types_ if val in record.INFO]): + try: + gene_name = self.get_sv_length_annotations(record, "SVLEN") + return ",".join(gene_name) + except (KeyError, ValueError, TypeError): try: - # print(record.INFO["SVLEN"]) - gene_name = self.find_record_gene( - [ - record.CHROM, - record.POS, - int(record.POS) + int(float(record.INFO["SVLEN"][0])), - ] - ) + # print(record.INFO["SV_length"]) + gene_name = self.get_sv_length_annotations(record, "SV_length") return ",".join(gene_name) - except (KeyError, ValueError): + except (KeyError, ValueError, TypeError): try: - # print(record.INFO["SV_length"]) - gene_name = self.find_record_gene( - [ - record.CHROM, - record.POS, - int(record.POS) + int(float(record.INFO["SV_length"])), - ] - ) + gene_name = self.get_sv_length_annotations(record, "SV_end") return ",".join(gene_name) except (KeyError, ValueError, TypeError): try: - gene_name = self.find_record_gene( - [ - record.CHROM, - record.POS, - int(float(record.INFO["SV_end"])), - ] - ) + gene_name = self.get_sv_length_annotations(record, "END") + return ",".join(gene_name) except (KeyError, ValueError, TypeError): print( - "ERROR missing SVLEN annotation for record ", - record, - ) - exit() - # SNV indel - else: - alternate = int(str(max([len(alt) for alt in list(str(record.ALT))]))) - gene_name = self.find_record_gene( - [ - record.CHROM, - record.POS, - (int(record.POS) + alternate), - ] - ) - if not gene_name: - gene_name = [""] - return ",".join(gene_name) - # if record.INFO.get("SVTYPE") is None: - # # print(record) - # # print( - # # record.CHROM, record.POS, (int(record.POS) + alternate), - # # ) - # if not gene_name: - # gene_name = [""] - # return ",".join(gene_name) - - # def generate_hovertext_var(self, variants_list) -> Generator: - # # dict containing INFO field for each var - # for var in variants_list: - # yield "
".join( - # [ - # ": ".join( - # [ - # str(value) if not isinstance(value, list) else str(value[0]) - # for value in pairs - # ] - # ) - # for pairs in list(zip(var.keys(), var.values())) - # ] - # ) + "ERROR missing SVLEN annotation for record ", + record, + ) + exit() + # SNV indel + else: + alternate = int(str(max([len(alt) for alt in list(str(record.ALT))]))) + gene_name = self.find_record_gene( + [ + record.CHROM, + record.POS, + (int(record.POS) + alternate), + ] + ) + if not gene_name: + gene_name = [""] + return ",".join(gene_name) diff --git a/vcf2circos/plotcategories/scatter.py b/vcf2circos/plotcategories/scatter.py index da239ea..310af5b 100644 --- a/vcf2circos/plotcategories/scatter.py +++ b/vcf2circos/plotcategories/scatter.py @@ -31,19 +31,6 @@ def __getattr__(self, item): return getattr(self.plotconfig, item) def adapt_genes(self, dico: dict) -> dict: - # TODO zip comme dans adapt data - # gene_scatter = {} - # gene_scatter["chr_name"] = dico["chr_name"] + dico["chr_name"] - # gene_scatter["start"] = dico["start"] + dico["end"] - # gene_scatter["val"] = dico["val"] + dico["val"] - # gene_scatter["color"] = dico["color"] + dico["color"] - # gene_scatter["gene"] = dico["gene"] + dico["gene"] - # gene_scatter["infos"] = list(repeat("", len(gene_scatter["chr_name"]))) - # - ## pprint(gene_scatter) - ## gene_scatter["hovertext"] = dico["gene"] + dico["gene"] - # gene_scatter["hovertext"] = list(repeat("", len(gene_scatter["chr_name"]))) - ## print(gene_scatter.keys()) tmp = {} od = OrderedDict() tmp["chr_name"] = list( @@ -62,8 +49,6 @@ def adapt_genes(self, dico: dict) -> dict: tmp["start"].append(s) tmp["start"].append(e) tmp["val"] = list(chain(*zip(dico["val"], dico["val"]))) - # print(dico.keys()) - # print(dico["trace"]["uid"]) tmp["color"] = [var for var in dico["color"]] for key, val in tmp.items(): if key != "color": @@ -82,46 +67,17 @@ def adapt_genes(self, dico: dict) -> dict: ) od["infos"] = list(repeat("", len(od["chr_name"]))) od["hovertext"] = list(repeat("", len(od["chr_name"]))) - - def get_index_positions(list_of_elems, element): - """Returns the indexes of all occurrences of give element in - the list- listOfElements""" - index_pos_list = [] - index_pos = 0 - while True: - try: - # Search for item in list from indexPos to the end of list - index_pos = list_of_elems.index(element, index_pos) - # Add the index position in list - index_pos_list.append(index_pos) - index_pos += 1 - except ValueError as e: - break - return index_pos_list - - # for key, val in od.items(): - # # print(key, get_index_positions(val, "BRCA2")) - # print(key, [val[32], val[33]]) - # exit() return od def val_data_col(self, dico): for key, val in dico["file"]["dataframe"]["data"].items(): if key not in ["start", "end", "color", "genes", "exons"]: - # tmp[key] = list(np.repeat(val, 2)) - # utils color match en fonciton du type - # tmp_se.append(val) - yield key, list(np.repeat(val, 2)) def adapt_data(self) -> list: final = [] # list of dico from histo class for dico in self.data_histo: - # key val in each dico - # if dico["trace"]["uid"] == "cnv_scatter_level_6": - # pprint(dico["file"]["dataframe"]["data"]) - # exit() if dico["trace"]["uid"].startswith("cnv_"): tmp = {} od = OrderedDict() @@ -140,8 +96,6 @@ def adapt_data(self) -> list: ): tmp["start"].append(s) tmp["start"].append(e) - # print(dico.keys()) - # print(dico["trace"]["uid"]) tmp["color"] = [ self.options["Color"][var] for var in dico["file"]["dataframe"]["data"]["type"] @@ -160,7 +114,6 @@ def adapt_data(self) -> list: ]: od[key] = list(chain(*zip(val, val))) od["color"] = list(chain(*zip(tmp["color"], tmp["color"]))) - # od["hovertext"] = list(np.repeat("", len(od["color"]))) od["hovertext"] = list( chain( *zip( @@ -177,10 +130,6 @@ def adapt_data(self) -> list: ) ) ) - # DEBUG - # if dico["trace"]["uid"] == "cnv_scatter_level_4": - # print(od) - # exit() final.append([od, dico["radius"], dico["trace"]["uid"]]) # Becarefull to not hoverride histogram data elif dico["trace"]["uid"] == "genes": @@ -193,8 +142,6 @@ def adapt_data(self) -> list: dico["trace"]["uid"], ] ) - - # check_data_plot(self.adapt_genes(dico["file"]["dataframe"]["data"])) return final def morbid_genes(self, genes: list) -> Generator: @@ -207,10 +154,6 @@ def morbid_genes(self, genes: list) -> Generator: def merge_options(self): final = [] data_list_list = self.adapt_data() - - # return self.scatter_cnv_level( - # data_list_list[0], data_list_list[1], data_list_list[2] - # ) for data, radius, level in data_list_list: # if no more mutations in copy number level remove dict if data["chr_name"]: @@ -225,32 +168,13 @@ def merge_options(self): ) else: final.append(self.scatter_cnv_level(data, radius, level)) - - # CHECK - # for dico_data in final: - # check_data_plot(dico_data) - # final[-1]["trace"]["marker"]["symbol"] = 0 - - # pprint(final, sort_dicts=False) - # exit for dico in final: check_data_plot(dico["file"]["dataframe"]["data"]) - # print(dico["trace"]["uid"]) - # print(dico["file"]["dataframe"]["data"].keys()) - # print("\n") return final - # if len(final) == 1: - # return final[0] - # else: - # return final def scatter_cnv_level( self, data, radius, level, hovertextformat=None, symbol=None, colorcolumn=None ): - # if data.get("symbol") is not None: - # symbol = data.get("symbol") - # else: - # symbol = data.get("val") if hovertextformat is None: hovertextformat = self.hovertextformat if symbol is None: @@ -287,14 +211,9 @@ def scatter_cnv_level( } d["layout"] = {"showlegend": "True"} d["name"] = d["trace"]["uid"] - # check_data_plot(data) - # pprint(d["file"]["dataframe"]["data"]) - # cut if ref or alt size is longer than 15 char for key, items in d["file"]["dataframe"]["data"].items(): if key == "ref" or key == "alt": for j, var in enumerate(items): if len(var) > 15: items[j] = var[:15] + "..." - # print(d["file"]["dataframe"]["data"]["ref"]) - # print(d["file"]["dataframe"]["data"]["alt"]) return d diff --git a/vcf2circos/utils.py b/vcf2circos/utils.py index d84eac0..6ec8ae0 100644 --- a/vcf2circos/utils.py +++ b/vcf2circos/utils.py @@ -47,7 +47,7 @@ def get_swap_dict(d): def chr_valid(): - chr_valid = ["chr" + str(i) for i in range(1, 22)] + chr_valid = ["chr" + str(i) for i in range(1, 23)] chr_valid.extend(["chrM", "chrX", "chrY"]) return chr_valid @@ -149,17 +149,16 @@ def delete_multiple_element(list_object, indices): def map_annotations(field_annot): if field_annot is not None: uniq = list(set(str(field_annot).split("|"))) - if len(uniq) == 1: - return uniq[0] - else: - return field_annot + #if len(uniq) == 1: + # return uniq[0] + #else: + # return field_annot + return uniq[0] else: return "." -def generate_hovertext_var( - variants_list, full_annot=None, true_annot=None -) -> Generator: +def generate_hovertext_var(variants_list, full_annot=None, true_annot=None) -> Generator: # print(self.data["Variants"]) # print(len(self.data["Variants"])) # print(len(self.data["Chromosomes"])) @@ -198,15 +197,9 @@ def generate_hovertext_var( if i == 15: break if not isinstance(pairs[1], list): - tmp.append( - ":".join([pairs[0], list(map(map_annotations, [pairs[1]]))[0]]) - ) + tmp.append(":".join([pairs[0], list(map(map_annotations, [pairs[1]]))[0]])) else: - tmp.append( - ": ".join( - [pairs[0], ",".join(list(map(map_annotations, pairs[1])))] - ) - ) + tmp.append(": ".join([pairs[0], ",".join(list(map(map_annotations, pairs[1])))])) to_add = [] for items in tmp: if len(items) > 40: @@ -258,6 +251,8 @@ def cast_svtype(svtype): """ In case of pip in svtype """ + if isinstance(svtype, list) and len(svtype) == 1: + svtype = svtype[0] svtype = svtype.split("|")[0] if "<" in svtype or ">" in svtype: svtype = svtype.replace("<", "") @@ -276,9 +271,7 @@ def systemcall(command: str) -> list: In case of crash exit code 1 stop script """ print("#[SYS] " + command) - p = subprocess.Popen( - [command], stdout=subprocess.PIPE, stderr=subprocess.PIPE, shell=True - ) + p = subprocess.Popen([command], stdout=subprocess.PIPE, stderr=subprocess.PIPE, shell=True) out, err = p.communicate() if not err: return out.decode("utf8").strip().split("\n") @@ -308,8 +301,7 @@ def formatted_refgene(refgene: str, assembly: str, ts=None) -> str: transcripts = ts.split(",") else: transcripts = "NM_" - df = pd.read_csv(refgene, sep="\t", header=None, compression="infer") - df.columns = [ + cols = [ "bin", "name", "chrom", @@ -327,94 +319,94 @@ def formatted_refgene(refgene: str, assembly: str, ts=None) -> str: "cdsEndStat", "exonFrames", ] - output_genes = os.path.dirname(refgene) + "/genes." + assembly + ".txt.gz.tmp" - output_transcripts = ( - os.path.dirname(refgene) + "/transcripts." + assembly + ".txt.gz.tmp" - ) - output_exons = os.path.dirname(refgene) + "/exons." + assembly + ".txt.gz.tmp" - - og = os.path.dirname(refgene) + "/genes." + assembly + ".txt.gz" - ot = os.path.dirname(refgene) + "/transcripts." + assembly + ".txt.gz" - oe = os.path.dirname(refgene) + "/exons." + assembly + ".txt.gz" - - with gzip.open(output_genes, "wb+") as out_g: - with gzip.open(output_exons, "wb+") as out_e: - with gzip.open(output_transcripts, "wb+") as out_t: - out_g.write( - bytes( - "\t".join(["chr_name", "start", "end", "val", "color", "gene",]) - + "\n", - "UTF-8", - ) - ) - out_t.write( - bytes( - "\t".join( - [ - "chr_name", - "start", - "end", - "val", - "color", - "gene", - "transcript", - ] - ) - + "\n", - "UTF-8", + df = pd.read_csv(refgene, sep="\t", header=0, compression="infer") + assert ( + len(df.columns) == 16 + ), "Error in columns format more or less than 16 columns, expected\n\tcols: " + ",".join(cols) + df.columns = cols + output_genes = os.path.dirname(refgene) + "/genes." + assembly + ".txt" + output_transcripts = os.path.dirname(refgene) + "/transcripts." + assembly + ".txt.gz" + output_exons = os.path.dirname(refgene) + "/exons." + assembly + ".txt.gz" + + # og = os.path.dirname(refgene) + "/genes." + assembly + ".txt.gz" + # ot = os.path.dirname(refgene) + "/transcripts." + assembly + ".txt.gz" + # oe = os.path.dirname(refgene) + "/exons." + assembly + ".txt.gz" + + with gzip.open(output_exons, "wb+") as out_e: + with gzip.open(output_transcripts, "wb+") as out_t: + out_t.write( + bytes( + "\t".join( + [ + "chr_name", + "start", + "end", + "val", + "color", + "gene", + "transcript", + ] ) + + "\n", + "UTF-8", ) - out_e.write( - bytes( - "\t".join( - [ - "chr_name", - "start", - "end", - "val", - "color", - "gene", - "exons", - "transcript", - ] - ) - + "\n", - "UTF-8", + ) + out_e.write( + bytes( + "\t".join( + [ + "chr_name", + "start", + "end", + "val", + "color", + "gene", + "exons", + "transcript", + ] ) + + "\n", + "UTF-8", ) - for i, row in tqdm( - df.iterrows(), - total=len(df.index), - desc="Formatting " + os.path.basename(refgene) + " file UCSC", - leave=False, - ): - out_g.write( + ) + for i, row in tqdm( + df.iterrows(), + total=len(df.index), + desc="Formatting " + os.path.basename(refgene) + " file UCSC", + leave=False, + ): + if [row["name"].startswith(ts) for ts in transcripts]: + out_t.write( bytes( "\t".join( [ row["chrom"], - str(row["cdsStart"]), - str(row["cdsEnd"]), + str(row["txStart"]), + str(row["txEnd"]), "1", - str(row["name2"]), - str(row["name2"]), + "lightgray", + row["name2"], + row["name"], ] ) + "\n", "UTF-8", ) ) - if [row["name"].startswith(ts) for ts in transcripts]: - out_t.write( + for i in range(len(row["exonStarts"].split(",")[:-1])): + exons_start = row["exonStarts"].split(",") + exons_end = row["exonEnds"].split(",") + out_e.write( bytes( "\t".join( [ row["chrom"], - str(row["txStart"]), - str(row["txEnd"]), + str(exons_start[i]), + str(exons_end[i]), "1", "lightgray", row["name2"], + "exon" + str(i + 1), row["name"], ] ) @@ -422,60 +414,59 @@ def formatted_refgene(refgene: str, assembly: str, ts=None) -> str: "UTF-8", ) ) - for i in range(len(row["exonStarts"].split(",")[:-1])): - exons_start = row["exonStarts"].split(",") - exons_end = row["exonEnds"].split(",") - out_e.write( - bytes( - "\t".join( - [ - row["chrom"], - str(exons_start[i]), - str(exons_end[i]), - "1", - "lightgray", - row["name2"], - "exon" + str(i + 1), - row["name"], - ] - ) - + "\n", - "UTF-8", - ) - ) - # systemcall( - # "zcat " - # + output_genes - # + " | grep 'chr_name' > " - # + og - # + " && zcat " - # + output_genes - # + " | grep -v 'chr_name' " - # + output_genes - # + " | sort -k1,1V -k2,2n > " - # + og - # ) - # systemcall( - # "grep chr_name " - # + output_genes - # + " > " - # + og - # + " && grep -v chr_name " - # + output_genes - # + " | sort -k1,1V -k2,2n > " - # + og - # ) - # - # systemcall( - # "grep chr_name " - # + output_exons - # + " > " - # + oe - # + " && grep -v chr_name " - # + output_exons - # + " | sort -k1,1V -k2,2n > " - # + oe - # ) + + # genes, keep row with the most exon counts + with gzip.open(output_genes + ".tmp", "wb+") as out_g: + out_g.write( + bytes( + "\t".join( + [ + "chr_name", + "start", + "end", + "val", + "color", + "gene", + ] + ) + + "\n", + "UTF-8", + ) + ) + for gene, df_ in tqdm( + df.groupby("name2"), total=len(df.index), desc="Formatting genes file UCSC", leave=False + ): + df_rows = df_.loc[df_["exonCount"] == df_["exonCount"].max()].loc[ + :, ["chrom", "cdsStart", "cdsEnd"] + ] + rows = df_rows.iloc[0, :] + out_g.write( + bytes( + "\t".join( + [ + rows["chrom"], + str(rows["cdsStart"]), + str(rows["cdsEnd"]), + "1", + "lightgray", + gene, + ] + ) + + "\n", + "UTF-8", + ) + ) + systemcall( + "zcat " + + output_genes + + ".tmp | grep 'chr_name' > " + + output_genes + + " && zcat "+output_genes+".tmp | grep -v 'chr_name' | sort -k1,1V -k2,2n >> " + + output_genes+" && /home1/TOOLS/tools/bgzip/current/bin/bgzip "+output_genes + ) + if os.path.exists(output_genes+".tmp"): + os.remove(output_genes+".tmp") + print("#[INFO] Generated " + ",".join([output_genes, output_exons, output_transcripts])) return df @@ -494,3 +485,195 @@ def timeit_wrapper(*args, **kwargs): return result return timeit_wrapper + + +def _gc(filedata, span, length, out): + """ + need check in good chroms lists + """ + dico = {} + tmp = [] + val = [] + + #200 000 + lim = span + threshold = span + with open(out, "w+") as o: + o.write("\t".join(["chr_name", "start", "end", "val", "color"]) + "\n") + for i, lines in tqdm( + enumerate(filedata), total=int(length[0]), + desc="INFO GC percent, bins length: " + str(span) + "", + ): + if not isinstance(lines, str): + lines = lines.decode("utf-8").strip() + else: + lines = lines.strip() + # for each chrom + if lines.startswith("variableStep"): + chr = lines.split()[1].split("=")[1] + lim = span + tmp.clear() + val.clear() + continue + else: + #Process data + start = int(lines.split()[0]) #10001 + stop = int(lines.split()[0]) + 5 #10006 + #POS + tmp.append(start) + #Cast to real value, 40 = 2 60 = 3 etc + val.append(float(lines.split()[1]) / 20) + if chr not in chr_valid(): + continue + + + #if lim < start: #it Start chr 1 10001 + # # first time only + # lim = start + lim + if start >= lim or (lines.startswith("variableStep") and chr != "chr1"): + gc_val = round( + (sum(val) / (stop - tmp[0])), 2) #nombre de gc tout les 5 diviser par le nombres de bases tot + + #dico[chr + ":" + str(tmp[0]) + "-" + str(tmp[-1])] = gc_val + if gc_val < 0: + color = "lightblue" + else: + color = "blue" + #If miss gc for example due to repeat regions + if len(tmp) > 1: + o.write( + "\t".join( + [ + str(chr), + str(tmp[0]), + str(tmp[-1]), + str(gc_val), + color, + ] + ) + + "\n" + ) + tmp.clear() + val.clear() + lim += threshold + #if chr == "chr3": + # print(dico) + # print(len(tmp)) + # print(len(val)) + # print(lim) + # print(lim) + # print(dict) + # exit() + +def _gc_hg38(filedata, span, length, out): + dico = {} + tmp = [] + #200 000 + val = [] + lim = span + threshold = span + chr_current = [] + df_size = pd.read_csv("/home1/BAS/lamouchj/vcf2circos/Static/Assembly/hg38/GRCh38_chromFa.chromSizes", sep="\t", header=None) + df_size.columns = ["chrom", "size"] + df_size["chrom"] = "chr"+df_size["chrom"] + #chr_length = df_size.loc[df_size["chrom"] == chrom].loc[0].at["size"] + chr_size = {} + for j, k in df_size.iterrows(): + chr_size[k["chrom"]] = k["size"] + with open(out, "w+") as o: + o.write("\t".join(["chr_name", "start", "end", "val", "color"]) + "\n") + for i, lines in tqdm( + enumerate(filedata), total=length, + desc="INFO GC percent, bins length: " + str(span) + "", + ): + if not isinstance(lines, str): + lines = lines.decode("utf-8").strip() + else: + lines = lines.strip() + + chrom = lines.split()[0] + + if chrom not in dico: + dico[chrom] = {"start": [], "stop": [], "val": []} + lim = threshold + if chrom not in chr_valid(): + continue + + #Process data + start = int(lines.split()[1]) + stop = int(lines.split()[2]) + dico[chrom]["start"].append(start) + dico[chrom]["stop"].append(stop) + #POS + #tmp.append(start) + #Cast to real value, 40 = 2 60 = 3 etc + #val.append(float(lines.split()[3]) / 20) + dico[chrom]["val"].append(float(lines.split()[3]) / 20) + if start >= lim: + #print(dico[chrom]["stop"][-1]) + #print(dico[chrom]["start"][0]) + #print(sum(dico[chrom]["val"])) + gc_val = round( + (sum(dico[chrom]["val"]) / (dico[chrom]["stop"][-1] - dico[chrom]["start"][0])), 2) #nombre de gc tout les stop-start diviser par le nombres de bases tot + + #dico[chr + ":" + str(tmp[0]) + "-" + str(tmp[-1])] = gc_val + #if gc_val < 0: + # color = "lightblue" + #else: + # color = "blue" + #If miss gc for example due to repeat regions + o.write( + "\t".join( + [ + str(chrom), + str(dico[chrom]["start"][0]), + str(dico[chrom]["stop"][-1]), + str(gc_val), + "blue", + ] + ) + + "\n" + ) + dico[chrom]["start"].clear() + dico[chrom]["stop"].clear() + dico[chrom]["val"].clear() + if lim >= chr_size[chrom]: + lim = chr_size[chrom] + print(lim) + print("End chr") + else: + lim += threshold + #chr_current.append(chrom) + + +def process_gc_percent(filename: str, out: str) -> str: + """ """ + print(filename) + print(out) + if filename.endswith(".gz"): + with gzip.open(filename, "rb") as bf: + #length = systemcall("zcat " + filename + " | wc -l") + _gc_hg38(bf, 5000000, 439385652, out) + else: + f = open(filename, "r") + length = systemcall("wc -l " + filename) + length = length[0].split() + _gc_hg38(f, 5000000, length, out) + + +def pick(file): + df = pd.read_csv(file, sep="\t", header=None, low_memory=False, compression='infer', names=['pos', 'values'], nrows=60000000) + #filter = df.iloc[:3000000, :] + #print(filter.iloc[:10, :]) + df.to_csv("pick_gc", header=False, index=False, sep="\t") + +def repeatmasker(file, out): + """ + Formatting repeatmasker file chr_name, start, stop, type + """ + df = pd.read_csv(file, sep="\t", header=None, compression='infer') + df.columns = ["chr_name", "start", "stop", "type", "length", "strand"] + df["val"] = 0.5 + df = df.loc[:, ["chr_name", "start", "stop", "val",]] + df.to_csv(out, sep="\t", header=True, index=False) +