From c46654bc711fbb4d7e3ab2afade95ce45b82bac7 Mon Sep 17 00:00:00 2001 From: Ramprasad Neethiraj <20065894+ramprasadn@users.noreply.github.com> Date: Fri, 28 Aug 2026 17:12:06 +0200 Subject: [PATCH] Make test_singleton a non-stub test covering customer_id Addresses #860 --- CHANGELOG.md | 1 + tests/test_singleton.nf.test | 84 +- tests/test_singleton.nf.test.snap | 1831 +++++++++++++++++++++++++++-- 3 files changed, 1817 insertions(+), 99 deletions(-) diff --git a/CHANGELOG.md b/CHANGELOG.md index 100d3fe9f..4d3a8c492 100644 --- a/CHANGELOG.md +++ b/CHANGELOG.md @@ -7,6 +7,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0 ### `Added` +- Convert the `test_singleton` pipeline test from a stub run to a real (non-stub) run, and set the optional `customer_id` column in its samplesheet fixture so it exercises the VCF2CYTOSURE output-rename / SV-VCF header-reheader branch and SaltShaker report labelling that replaced the removed `sample_id_map` [issue #860](https://github.com/nf-core/raredisease/issues/860) [PR #1009](https://github.com/nf-core/raredisease/pull/1009) - Add a real (non-stub) test to `annotate_genome_snvs` using the new minimal 9-region GIAB dataset in `--gtf` VEP mode, and migrate `annotate_mt_snvs`'s existing real test from the old large-genome fixtures to the same minimal dataset [issue #795](https://github.com/nf-core/raredisease/issues/795) [PR #984](https://github.com/nf-core/raredisease/pull/984) - Add a real (non-stub) test to `generate_cytosure_files` using the new minimal 9-region GIAB dataset, and migrate `call_sv_manta`'s existing real test to the same minimal dataset [issue #795](https://github.com/nf-core/raredisease/issues/795) [PR #986](https://github.com/nf-core/raredisease/pull/986) - Add a real (non-stub) test to `annotate_rhocallviz` using the new minimal 9-region GIAB dataset, and migrate `annotate_consequence_pli`'s real tests off the generic nf-core/modules VCF fixture onto a genuine VEP-CSQ-annotated VCF derived from the same minimal dataset [issue #795](https://github.com/nf-core/raredisease/issues/795) [PR #985](https://github.com/nf-core/raredisease/pull/985) diff --git a/tests/test_singleton.nf.test b/tests/test_singleton.nf.test index 235365090..94a350afa 100644 --- a/tests/test_singleton.nf.test +++ b/tests/test_singleton.nf.test @@ -7,8 +7,6 @@ nextflow_pipeline { test("-profile test_singleton") { - options "-stub" - when { params { outdir = "$outputDir" @@ -16,19 +14,85 @@ nextflow_pipeline { } then { - // stable_name: All files + folders in ${params.outdir}/ with a stable name - def stable_name = getAllFilesFromDir(params.outdir, relative: true, includeDir: true, ignore: ['pipeline_info/*.{html,json,txt}']) - // stable_path: All files in ${params.outdir}/ with stable content - def stable_path = getAllFilesFromDir(params.outdir, ignoreFile: 'tests/.nftignore') + // stable_path: All files + folders in ${params.outdir}/ with a stable path (including file name) + // fastp's/fastqc's overrepresented-sequences, sequence-duplication-levels, and + // sequence-length-distribution MultiQC modules are threshold-triggered and flaky + // on this dataset's low read counts -- whether they're generated at all can vary + // run to run on identical input, so their existence can't be asserted reliably. + def stable_path = getAllFilesFromDir(params.outdir, relative: true, includeDir: true, ignore: [ + 'pipeline_info/*.{html,json,txt}', + 'multiqc/multiqc_data/fastp*.txt', + 'multiqc/multiqc_data/fastqc*.txt', + 'multiqc/multiqc_plots/{svg,pdf,png}/*.{svg,pdf,png}' + ]) + + // stable_content: All files in ${params.outdir}/ with stable content + // (VCFs excluded here -- see vcf_records below -- since their headers embed + // run-specific command lines/timestamps that vary even when the records don't) + def stable_content = getAllFilesFromDir(params.outdir, ignoreFile: 'tests/.nftignore') + + // vcf_records: every VCF's variant lines, header stripped (removes run-specific + // command lines/timestamps), INFO sub-fields sorted (Stranger writes its + // disease-annotation keys in a non-deterministic order within an otherwise-identical + // record), CSQ's own comma-separated transcript consequences sorted (VEP doesn't + // guarantee a stable order across multiple overlapping transcripts), and the overall + // line list sorted (so a tie-break in record order between calls sharing the same + // position doesn't fail the snapshot when the calls themselves match). TIDDIT-derived + // SV files are excluded here -- see sv_records below -- since they carry additional + // vendor-specific fields that aren't just reordered but genuinely non-deterministic. + def vcf_records = getAllFilesFromDir(params.outdir, include: ['**/*.vcf.gz', '**/*.vcf'], ignore: ['**/*sv*.vcf.gz']) + .sort { it.name } + .collectEntries { f -> + def lines = f.name.endsWith('.gz') + ? new java.util.zip.GZIPInputStream(new FileInputStream(f)).withReader { it.readLines() } + : f.readLines() + def records = lines + .findAll { !it.startsWith('#') } + .collect { line -> + def cols = line.split('\t', -1) + if (cols.size() > 7) { + cols[7] = cols[7] + .split(';') + .collect { kv -> + kv.startsWith('CSQ=') ? 'CSQ=' + kv.substring(4).split(',').sort().join(',') : kv + } + .sort() + .join(';') + } + cols.join('\t') + } + .sort() + [(f.name): records] + } + // sv_records: TIDDIT-derived SV calls (sv.vcf.gz and everything downstream of it) + // carry several TIDDIT-specific fields that are genuinely non-deterministic between + // otherwise-identical runs -- not just reordered, but different values outright + // (assembled breakpoint consensus sequence, per-sample coverage estimates, breakpoint + // region boundaries, and arbitrary internal SV_N_M call labels). So snapshotting + // only the fields that define the call itself + // position, type, length, alleles, and each sample's genotype. + def sv_records = getAllFilesFromDir(params.outdir, include: ['**/*sv*.vcf.gz']) + .sort { it.name } + .collectEntries { f -> + def summaries = path(f.toString()).vcf.variants.collect { vc -> + def gts = vc.genotypes.collect { g -> "${g.sampleName}:${g.genotypeString}" }.sort().join(',') + "${vc.contig}:${vc.start}-${vc.end}\t${vc.reference}>${vc.alternateAlleles}\tSVTYPE=${vc.getAttribute('SVTYPE')}\tSVLEN=${vc.getAttribute('SVLEN')}\tGT=[${gts}]" + }.sort() + [(f.name): summaries] + } + assert workflow.success assertAll( - { assert workflow.success}, { assert snapshot( - // Number of successful tasks - workflow.trace.succeeded().size(), // pipeline versions.yml file for multiqc from which Nextflow version is removed because we test pipelines on multiple Nextflow versions removeNextflowVersion("$outputDir/pipeline_info/nf_core_raredisease_software_mqc_versions.yml"), // All stable path name, with a relative path - stable_name + stable_path, + // All files with stable contents + stable_content, + // All VCFs' variant records, header-independent + vcf_records, + // TIDDIT-derived SV calls, reduced to their essential fields + sv_records ).match() } ) } diff --git a/tests/test_singleton.nf.test.snap b/tests/test_singleton.nf.test.snap index 377bc9da3..d98205ab1 100644 --- a/tests/test_singleton.nf.test.snap +++ b/tests/test_singleton.nf.test.snap @@ -1,7 +1,6 @@ { "-profile test_singleton": { "content": [ - 288, { "ADD_VARCALLER_TO_BED": { "bgzip": 1.21, @@ -25,6 +24,9 @@ "BCFTOOLS_REHEADER_ME": { "bcftools": 1.22 }, + "BCFTOOLS_REHEADER_SV_VCF": { + "bcftools": 1.22 + }, "BCFTOOLS_ROH": { "bcftools": 1.22 }, @@ -84,9 +86,6 @@ "CAT_FASTQ": { "cat": 9.5 }, - "CHROMOGRAPH_AUTOZYG": { - "chromograph": "1.3.1" - }, "CHROMOGRAPH_COV": { "chromograph": "1.3.1" }, @@ -485,31 +484,6 @@ "annotate_snv", "annotate_snv/genome", "annotate_snv/genome/ACC13778A1_rhocallviz", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr1.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr10.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr11.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr12.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr13.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr14.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr15.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr16.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr17.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr18.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr19.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr2.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr20.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr21.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr22.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr3.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr4.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr5.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr6.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr7.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr8.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chr9.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chrM.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chrX.png", - "annotate_snv/genome/ACC13778A1_rhocallviz.bed_chrY.png", "annotate_snv/genome/ACC13778A1_rhocallviz/ACC13778A1_rhocallviz.bed", "annotate_snv/genome/ACC13778A1_rhocallviz/ACC13778A1_rhocallviz.bw", "annotate_snv/genome/ACC13778A1_rhocallviz/ACC13778A1_rhocallviz.wig", @@ -521,12 +495,13 @@ "annotate_sv", "annotate_sv/amusingmarmoset_svdbquery_vep.vcf.gz", "annotate_sv/amusingmarmoset_svdbquery_vep.vcf.gz.tbi", - "annotate_sv/amusingmarmoset_svdbquery_vep_summary.html", + "annotate_sv/amusingmarmoset_svdbquery_vep.vcf.gz_summary.html", "call_mobile_elements", "call_mobile_elements/amusingmarmoset_mobile_elements.vcf.gz", "call_mobile_elements/amusingmarmoset_mobile_elements.vcf.gz.tbi", "call_snv", "call_snv/genome", + "call_snv/genome/ACC13778A1_deepvar.visual_report.html", "call_snv/genome/amusingmarmoset_snv.vcf.gz", "call_snv/genome/amusingmarmoset_snv.vcf.gz.tbi", "call_snv/mitochondria", @@ -540,37 +515,101 @@ "call_sv/amusingmarmoset_sv.vcf.gz.tbi", "fastqc", "fastqc/ACC13778A1_LNUMBER1", - "fastqc/ACC13778A1_LNUMBER1/ACC13778A1_LNUMBER1.html", - "fastqc/ACC13778A1_LNUMBER1/ACC13778A1_LNUMBER1.zip", + "fastqc/ACC13778A1_LNUMBER1/ACC13778A1_LNUMBER1_1_fastqc.html", + "fastqc/ACC13778A1_LNUMBER1/ACC13778A1_LNUMBER1_1_fastqc.zip", + "fastqc/ACC13778A1_LNUMBER1/ACC13778A1_LNUMBER1_2_fastqc.html", + "fastqc/ACC13778A1_LNUMBER1/ACC13778A1_LNUMBER1_2_fastqc.zip", "fastqc/ACC13778A1_LNUMBER2", - "fastqc/ACC13778A1_LNUMBER2/ACC13778A1_LNUMBER2.html", - "fastqc/ACC13778A1_LNUMBER2/ACC13778A1_LNUMBER2.zip", + "fastqc/ACC13778A1_LNUMBER2/ACC13778A1_LNUMBER2_1_fastqc.html", + "fastqc/ACC13778A1_LNUMBER2/ACC13778A1_LNUMBER2_1_fastqc.zip", + "fastqc/ACC13778A1_LNUMBER2/ACC13778A1_LNUMBER2_2_fastqc.html", + "fastqc/ACC13778A1_LNUMBER2/ACC13778A1_LNUMBER2_2_fastqc.zip", "fastqc/ACC13778A1_LNUMBER3", - "fastqc/ACC13778A1_LNUMBER3/ACC13778A1_LNUMBER3.html", - "fastqc/ACC13778A1_LNUMBER3/ACC13778A1_LNUMBER3.zip", + "fastqc/ACC13778A1_LNUMBER3/ACC13778A1_LNUMBER3_1_fastqc.html", + "fastqc/ACC13778A1_LNUMBER3/ACC13778A1_LNUMBER3_1_fastqc.zip", + "fastqc/ACC13778A1_LNUMBER3/ACC13778A1_LNUMBER3_2_fastqc.html", + "fastqc/ACC13778A1_LNUMBER3/ACC13778A1_LNUMBER3_2_fastqc.zip", "fastqc/ACC13778A1_LNUMBER4", - "fastqc/ACC13778A1_LNUMBER4/ACC13778A1_LNUMBER4.html", - "fastqc/ACC13778A1_LNUMBER4/ACC13778A1_LNUMBER4.zip", + "fastqc/ACC13778A1_LNUMBER4/ACC13778A1_LNUMBER4_1_fastqc.html", + "fastqc/ACC13778A1_LNUMBER4/ACC13778A1_LNUMBER4_1_fastqc.zip", + "fastqc/ACC13778A1_LNUMBER4/ACC13778A1_LNUMBER4_2_fastqc.html", + "fastqc/ACC13778A1_LNUMBER4/ACC13778A1_LNUMBER4_2_fastqc.zip", "fastqc/ACC13778A1_LNUMBER5", - "fastqc/ACC13778A1_LNUMBER5/ACC13778A1_LNUMBER5.html", - "fastqc/ACC13778A1_LNUMBER5/ACC13778A1_LNUMBER5.zip", + "fastqc/ACC13778A1_LNUMBER5/ACC13778A1_LNUMBER5_1_fastqc.html", + "fastqc/ACC13778A1_LNUMBER5/ACC13778A1_LNUMBER5_1_fastqc.zip", + "fastqc/ACC13778A1_LNUMBER5/ACC13778A1_LNUMBER5_2_fastqc.html", + "fastqc/ACC13778A1_LNUMBER5/ACC13778A1_LNUMBER5_2_fastqc.zip", "fastqc/ACC13778A1_LNUMBER6", - "fastqc/ACC13778A1_LNUMBER6/ACC13778A1_LNUMBER6.html", - "fastqc/ACC13778A1_LNUMBER6/ACC13778A1_LNUMBER6.zip", + "fastqc/ACC13778A1_LNUMBER6/ACC13778A1_LNUMBER6_1_fastqc.html", + "fastqc/ACC13778A1_LNUMBER6/ACC13778A1_LNUMBER6_1_fastqc.zip", + "fastqc/ACC13778A1_LNUMBER6/ACC13778A1_LNUMBER6_2_fastqc.html", + "fastqc/ACC13778A1_LNUMBER6/ACC13778A1_LNUMBER6_2_fastqc.zip", "fastqc/ACC13778A1_LNUMBER7", - "fastqc/ACC13778A1_LNUMBER7/ACC13778A1_LNUMBER7.html", - "fastqc/ACC13778A1_LNUMBER7/ACC13778A1_LNUMBER7.zip", + "fastqc/ACC13778A1_LNUMBER7/ACC13778A1_LNUMBER7_1_fastqc.html", + "fastqc/ACC13778A1_LNUMBER7/ACC13778A1_LNUMBER7_1_fastqc.zip", + "fastqc/ACC13778A1_LNUMBER7/ACC13778A1_LNUMBER7_2_fastqc.html", + "fastqc/ACC13778A1_LNUMBER7/ACC13778A1_LNUMBER7_2_fastqc.zip", "fastqc/ACC13778A1_LNUMBER8", - "fastqc/ACC13778A1_LNUMBER8/ACC13778A1_LNUMBER8.html", - "fastqc/ACC13778A1_LNUMBER8/ACC13778A1_LNUMBER8.zip", + "fastqc/ACC13778A1_LNUMBER8/ACC13778A1_LNUMBER8_1_fastqc.html", + "fastqc/ACC13778A1_LNUMBER8/ACC13778A1_LNUMBER8_1_fastqc.zip", + "fastqc/ACC13778A1_LNUMBER8/ACC13778A1_LNUMBER8_2_fastqc.html", + "fastqc/ACC13778A1_LNUMBER8/ACC13778A1_LNUMBER8_2_fastqc.zip", "fastqc/ACC13778A1_LNUMBER9", - "fastqc/ACC13778A1_LNUMBER9/ACC13778A1_LNUMBER9.html", - "fastqc/ACC13778A1_LNUMBER9/ACC13778A1_LNUMBER9.zip", + "fastqc/ACC13778A1_LNUMBER9/ACC13778A1_LNUMBER9_1_fastqc.html", + "fastqc/ACC13778A1_LNUMBER9/ACC13778A1_LNUMBER9_1_fastqc.zip", + "fastqc/ACC13778A1_LNUMBER9/ACC13778A1_LNUMBER9_2_fastqc.html", + "fastqc/ACC13778A1_LNUMBER9/ACC13778A1_LNUMBER9_2_fastqc.zip", "multiqc", "multiqc/multiqc_data", - "multiqc/multiqc_data/.stub", + "multiqc/multiqc_data/llms-full.txt", + "multiqc/multiqc_data/mosdepth-coverage-per-contig-multi.txt", + "multiqc/multiqc_data/mosdepth-cumcoverage-dist-id.txt", + "multiqc/multiqc_data/mosdepth_cov_dist.txt", + "multiqc/multiqc_data/mosdepth_cumcov_dist.txt", + "multiqc/multiqc_data/mosdepth_perchrom.txt", + "multiqc/multiqc_data/multiqc.log", + "multiqc/multiqc_data/multiqc.parquet", + "multiqc/multiqc_data/multiqc_citations.txt", + "multiqc/multiqc_data/multiqc_data.json", + "multiqc/multiqc_data/multiqc_fastqc.txt", + "multiqc/multiqc_data/multiqc_general_stats.txt", + "multiqc/multiqc_data/multiqc_picard_AlignmentSummaryMetrics.txt", + "multiqc/multiqc_data/multiqc_picard_HsMetrics.txt", + "multiqc/multiqc_data/multiqc_picard_baseContent.txt", + "multiqc/multiqc_data/multiqc_picard_dups.txt", + "multiqc/multiqc_data/multiqc_picard_insertSize.txt", + "multiqc/multiqc_data/multiqc_picard_quality_by_cycle.txt", + "multiqc/multiqc_data/multiqc_picard_quality_score_distribution.txt", + "multiqc/multiqc_data/multiqc_picard_wgsmetrics.txt", + "multiqc/multiqc_data/multiqc_software_versions.txt", + "multiqc/multiqc_data/multiqc_sources.txt", + "multiqc/multiqc_data/picard_MarkIlluminaAdapters_histogram.txt", + "multiqc/multiqc_data/picard_MeanQualityByCycle_histogram.txt", + "multiqc/multiqc_data/picard_MeanQualityByCycle_histogram_1.txt", + "multiqc/multiqc_data/picard_QualityScoreDistribution_histogram.txt", + "multiqc/multiqc_data/picard_alignment_readlength_plot.txt", + "multiqc/multiqc_data/picard_alignment_summary_Aligned_Bases.txt", + "multiqc/multiqc_data/picard_alignment_summary_Aligned_Reads.txt", + "multiqc/multiqc_data/picard_base_distribution_by_cycle__Adenine.txt", + "multiqc/multiqc_data/picard_base_distribution_by_cycle__Cytosine.txt", + "multiqc/multiqc_data/picard_base_distribution_by_cycle__Guanine.txt", + "multiqc/multiqc_data/picard_base_distribution_by_cycle__Thymine.txt", + "multiqc/multiqc_data/picard_base_distribution_by_cycle__Undetermined.txt", + "multiqc/multiqc_data/picard_deduplication.txt", + "multiqc/multiqc_data/picard_hsmetrics_table.txt", + "multiqc/multiqc_data/picard_hybrid_selection_penalty.txt", + "multiqc/multiqc_data/picard_insert_size_Counts.txt", + "multiqc/multiqc_data/picard_insert_size_Percentages.txt", + "multiqc/multiqc_data/picard_percentage_target_bases.txt", + "multiqc/multiqc_data/picard_quality_by_cycle.txt", + "multiqc/multiqc_data/picard_quality_score_distribution.txt", + "multiqc/multiqc_data/picard_wgs_metrics_bases.txt", + "multiqc/multiqc_data/picard_wgs_metrics_histogram_Counts_Histogram.txt", + "multiqc/multiqc_data/picard_wgs_metrics_histogram_Percentage_Drop-Off.txt", "multiqc/multiqc_plots", - "multiqc/multiqc_plots/.stub", + "multiqc/multiqc_plots/pdf", + "multiqc/multiqc_plots/png", + "multiqc/multiqc_plots/svg", "multiqc/multiqc_report.html", "pedigree", "pedigree/amusingmarmoset.ped", @@ -578,18 +617,10 @@ "pipeline_info/nf_core_raredisease_software_mqc_versions.yml", "qc_bam", "qc_bam/ACC13778A1_hsmetrics.CollectHsMetrics.coverage_metrics", - "qc_bam/ACC13778A1_mosdepth.global.dist.txt", + "qc_bam/ACC13778A1_mosdepth.mosdepth.global.dist.txt", + "qc_bam/ACC13778A1_mosdepth.mosdepth.summary.txt", "qc_bam/ACC13778A1_mosdepth.per-base.bed.gz", "qc_bam/ACC13778A1_mosdepth.per-base.bed.gz.csi", - "qc_bam/ACC13778A1_mosdepth.per-base.d4", - "qc_bam/ACC13778A1_mosdepth.quantized.bed.gz", - "qc_bam/ACC13778A1_mosdepth.quantized.bed.gz.csi", - "qc_bam/ACC13778A1_mosdepth.region.dist.txt", - "qc_bam/ACC13778A1_mosdepth.regions.bed.gz", - "qc_bam/ACC13778A1_mosdepth.regions.bed.gz.csi", - "qc_bam/ACC13778A1_mosdepth.summary.txt", - "qc_bam/ACC13778A1_mosdepth.thresholds.bed.gz", - "qc_bam/ACC13778A1_mosdepth.thresholds.bed.gz.csi", "qc_bam/ACC13778A1_multiplemetrics.CollectMultipleMetrics.alignment_summary_metrics", "qc_bam/ACC13778A1_multiplemetrics.CollectMultipleMetrics.base_distribution_by_cycle.pdf", "qc_bam/ACC13778A1_multiplemetrics.CollectMultipleMetrics.base_distribution_by_cycle_metrics", @@ -601,34 +632,33 @@ "qc_bam/ACC13778A1_multiplemetrics.CollectMultipleMetrics.quality_distribution_metrics", "qc_bam/ACC13778A1_multiplemetrics.CollectMultipleMetrics.read_length_histogram.pdf", "qc_bam/ACC13778A1_sambamba_depth.bed", - "qc_bam/ACC13778A1_tidditcov.bed", "qc_bam/ACC13778A1_tidditcov.bw", "qc_bam/ACC13778A1_tidditcov.wig", - "qc_bam/ACC13778A1_tidditcov.wig_chr1.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr10.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr11.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr12.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr13.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr14.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr15.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr16.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr17.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr18.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr19.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr2.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr20.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr21.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr22.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr3.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr4.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr5.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr6.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr7.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr8.png", - "qc_bam/ACC13778A1_tidditcov.wig_chr9.png", - "qc_bam/ACC13778A1_tidditcov.wig_chrM.png", - 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+ "chr7\t11851\t.\tT\t\t43\t.\tACC13778A1_mobile_elements_concat_CHROM=.|chr7;ACC13778A1_mobile_elements_concat_FILTERS=.|.;ACC13778A1_mobile_elements_concat_INFO=.|MEINFO:ALU:11851:11852:NA|NOT_VALIDATED|SVTYPE:INS;ACC13778A1_mobile_elements_concat_POS=.|11851;ACC13778A1_mobile_elements_concat_QUAL=.|43;ACC13778A1_mobile_elements_concat_SAMPLE=.|ACC13778A1|GT:1/1|GQ:43|FL:8|SP:17|CLIP5:11|CLIP3:10;CSQ=mobile_element_insertion|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||;FOUNDBY=1;MEINFO=ALU,11851,11852,NA;NOT_VALIDATED;SUPP_VEC=1;SVTYPE=INS;set=Intersection;svdb_origin=ACC13778A1_mobile_elements_concat;swegen_alu_FRQ=0.1668;swegen_alu_OCC=167\tGT:GQ:FL:SP:CLIP5:CLIP3\t1/1:43:8:17:11:10", + "chr7\t9725\t.\tA\t\t36\t.\tACC13778A1_mobile_elements_concat_CHROM=.|chr7;ACC13778A1_mobile_elements_concat_FILTERS=.|.;ACC13778A1_mobile_elements_concat_INFO=.|MEINFO:ALU:9725:9726:NA|NOT_VALIDATED|SVTYPE:INS;ACC13778A1_mobile_elements_concat_POS=.|9725;ACC13778A1_mobile_elements_concat_QUAL=.|36;ACC13778A1_mobile_elements_concat_SAMPLE=.|ACC13778A1|GT:1/1|GQ:36|FL:3|SP:24|CLIP5:13|CLIP3:19;CSQ=mobile_element_insertion|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||;FOUNDBY=1;MEINFO=ALU,9725,9726,NA;NOT_VALIDATED;SUPP_VEC=1;SVTYPE=INS;set=Intersection;svdb_origin=ACC13778A1_mobile_elements_concat\tGT:GQ:FL:SP:CLIP5:CLIP3\t1/1:36:3:24:13:19" + ], + "amusingmarmoset_mitochondria.vcf.gz": [ + "chrM\t1438\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=1,0|72,77;DP=151;ECNT=8;ECNTH=1;FOUND_IN=mutect2;MBQ=12,40;MFRL=373,332;MMQ=60,60;MPOS=37;OCM=0;POPAF=2.4;TLOD=632.97\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:1,149:0.991:150:0,68:0,59:1,143:0|1:9721_C_A:9721:1,0,72,77", + "chrM\t15175\t.\tC\tT\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|78,74;DP=156;ECNT=9;ECNTH=2;FOUND_IN=mutect2;MBQ=0,40;MFRL=0,344;MMQ=60,60;MPOS=38;OCM=0;POPAF=2.4;TLOD=658.17\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,152:0.993:152:0,55:0,66:0,146:0,0,78,74", + "chrM\t15326\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|80,80;DP=164;ECNT=9;ECNTH=2;FOUND_IN=mutect2;MBQ=0,40;MFRL=0,344;MMQ=60,60;MPOS=40;OCM=0;POPAF=2.4;TLOD=685.94\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,160:0.994:160:0,48:0,41:0,156:0,0,80,80", + "chrM\t15737\t.\tG\tA\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=86,65|2,1;DP=159;ECNT=2;ECNTH=1;FOUND_IN=mutect2;MBQ=40,40;MFRL=339,356;MMQ=60,60;MPOS=43;OCM=0;POPAF=2.4;TLOD=5.83\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:151,3:0.027:154:56,0:68,2:144,3:86,65,2,1", + "chrM\t16304\t.\tT\tC\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|65,81;DP=151;ECNT=2;ECNTH=1;FOUND_IN=mutect2;MBQ=0,40;MFRL=0,345;MMQ=60,60;MPOS=41;OCM=0;POPAF=2.4;TLOD=610.81\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,146:0.993:146:0,59:0,59:0,139:0|1:7983_C_A:7983:0,0,65,81", + "chrM\t263\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|29,79;DP=115;ECNT=22;ECNTH=1;FOUND_IN=mutect2;MBQ=0,40;MFRL=0,320;MMQ=60,60;MPOS=35;OCM=0;POPAF=2.4;TLOD=442.59\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,108:0.991:108:0,51:0,45:0,104:0,0,29,79", + "chrM\t302\t.\tA\tAC\t.\tPASS\tAS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=3,0|6,56|2,0|2,3;DP=95;ECNT=22;ECNTH=2;FOUND_IN=mutect2;MBQ=24,40;MFRL=289,338;MMQ=60,60;MPOS=39;OCM=0;POPAF=2.4;RPA=7,8;RU=C;STR;TLOD=161.28\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1/0/0:3,62:0.881:72:0,28:1,22:2,60:3,0,10,59", + "chrM\t302\t.\tA\tACC\t.\tPASS\tAS_FilterStatus=strand_bias|weak_evidence;AS_SB_TABLE=3,0|6,56|2,0|2,3;DP=95;ECNT=22;ECNTH=2;FOUND_IN=mutect2;MBQ=24,40;MFRL=289,288;MMQ=60,60;MPOS=20;OCM=0;POPAF=2.4;RPA=7,9;RU=C;STR;TLOD=3.75\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/0/0/1:3,5:0.073:72:0,1:1,3:2,5:3,0,10,59", + "chrM\t302\t.\tACCC\tA\t.\tPASS\tAS_FilterStatus=base_qual;AS_SB_TABLE=3,0|6,56|2,0|2,3;DP=95;ECNT=22;ECNTH=14;FOUND_IN=mutect2;MBQ=24,18;MFRL=289,396;MMQ=60,60;MPOS=21;OCM=0;POPAF=2.4;RPA=7,4;RU=C;STR;TLOD=1.3\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/0/1/0:3,2:0.019:72:0,0:1,1:2,1:3,0,10,59", + "chrM\t310\t.\tT\tTA\t.\tPASS\tAS_FilterStatus=base_qual;AS_SB_TABLE=0,0|13,64|1,0;DP=85;ECNT=22;ECNTH=14;FOUND_IN=mutect2;MBQ=0,12;MFRL=0,482;MMQ=60,60;MPOS=32;OCM=0;POPAF=2.4;TLOD=1.14\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/0/1:0,1:0.021:78:0,0:0,0:0,1:0,0,14,64", + "chrM\t310\t.\tT\tTC\t.\tPASS\tAS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=0,0|13,64|1,0;DP=85;ECNT=22;ECNTH=2;FOUND_IN=mutect2;MBQ=0,40;MFRL=0,340;MMQ=60,60;MPOS=34;OCM=0;POPAF=2.4;TLOD=284.93\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1/0:0,77:0.968:78:0,30:0,25:0,77:0,0,14,64", + "chrM\t4336\t.\tT\tC\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|78,79;DP=159;ECNT=10;ECNTH=1;FOUND_IN=mutect2;MBQ=0,40;MFRL=0,326;MMQ=60,60;MPOS=39;OCM=0;POPAF=2.4;TLOD=672.47\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,157:0.994:157:0,47:0,53:0,153:0,0,78,79", + "chrM\t456\t.\tC\tT\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|69,63;DP=135;ECNT=2;ECNTH=1;FOUND_IN=mutect2;MBQ=0,40;MFRL=0,348;MMQ=60,60;MPOS=31;OCM=0;POPAF=2.4;TLOD=542.91\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,132:0.992:132:0,63:0,58:0,126:0|1:8696_C_A:8696:0,0,69,63", + "chrM\t4769\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|58,68;DP=130;ECNT=7;ECNTH=1;FOUND_IN=mutect2;MBQ=0,40;MFRL=0,334;MMQ=60,60;MPOS=33;OCM=0;POPAF=2.4;TLOD=520.48\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,126:0.992:126:0,49:0,54:0,117:0,0,58,68", + "chrM\t6210\t.\tT\tC\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=83,75|10,5;DP=180;ECNT=5;ECNTH=1;FOUND_IN=mutect2;MBQ=40,40;MFRL=336,363;MMQ=60,60;MPOS=42;OCM=0;POPAF=2.4;TLOD=43.97\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:158,15:0.095:173:76,7:62,8:152,15:83,75,10,5", + "chrM\t6800\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|82,96;DP=183;ECNT=2;ECNTH=1;FOUND_IN=mutect2;MBQ=0,40;MFRL=0,335;MMQ=60,60;MPOS=40;OCM=0;POPAF=2.4;TLOD=750.21\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,178:0.994:178:0,82:0,81:0,171:0|1:6800_A_G:6800:0,0,82,96", + "chrM\t750\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|78,67;DP=149;ECNT=4;ECNTH=1;FOUND_IN=mutect2;MBQ=0,40;MFRL=0,339;MMQ=60,60;MPOS=39;OCM=0;POPAF=2.4;TLOD=609.72\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,145:0.993:145:0,57:0,56:0,140:0,0,78,67", + "chrM\t8557\t.\tG\tA\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|92,69;DP=165;ECNT=5;ECNTH=1;FOUND_IN=mutect2;MBQ=0,40;MFRL=0,334;MMQ=60,60;MPOS=32;OCM=0;POPAF=2.4;TLOD=708.7\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,161:0.994:161:0,70:0,70:0,155:0|1:8557_G_A:8557:0,0,92,69", + "chrM\t8860\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|57,72;DP=131;ECNT=15;ECNTH=1;FOUND_IN=mutect2;MBQ=0,40;MFRL=0,351;MMQ=60,60;MPOS=37;OCM=0;POPAF=2.4;TLOD=583.4\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,129:0.993:129:0,62:0,59:0,129:0,0,57,72" + ], + "amusingmarmoset_mitochondria_vcfanno_vep.vcf.gz": [ + "chrM\t1438\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=1,0|72,77;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|MT-RNR1|ENSG00000211459|Transcript|ENST00000389680|Mt_rRNA|1/1||ENST00000389680.2:n.791A>G||791|||||||1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=151;ECNT=8;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=7.1158e-05;GNOMAD_MTAF_hom=0.9561;MBQ=12,40;MFRL=373,332;MMQ=60,60;MPOS=37;OCM=0;POPAF=2.4;TLOD=632.97\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:1,149:0.991:150:0,68:0,59:1,143:0|1:9721_C_A:9721:1,0,72,77", + "chrM\t15175\t.\tC\tT\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|78,74;CSQ=T|synonymous_variant|LOW|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding|1/1||ENST00000361789.2:c.429C>T|ENSP00000354554.1:p.Ala143%3D|429|429|143|A|gcC/gcT|||1||||YES||||ENSP00000354554|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=156;ECNT=9;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0;GNOMAD_MTAF_hom=0.00077969;MBQ=0,40;MFRL=0,344;MMQ=60,60;MPOS=38;OCM=0;POPAF=2.4;TLOD=658.17\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,152:0.993:152:0,55:0,66:0,146:0,0,78,74", + "chrM\t15326\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|80,80;CSQ=G|missense_variant|MODERATE|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding|1/1||ENST00000361789.2:c.580A>G|ENSP00000354554.1:p.Thr194Ala|580|580|194|T/A|Aca/Gca|||1||||YES||||ENSP00000354554|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=164;ECNT=9;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00021277;GNOMAD_MTAF_hom=0.9934;MBQ=0,40;MFRL=0,344;MMQ=60,60;MPOS=40;OCM=0;POPAF=2.4;TLOD=685.94\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,160:0.994:160:0,48:0,41:0,156:0,0,80,80", + "chrM\t15737\t.\tG\tA\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=86,65|2,1;CSQ=A|missense_variant|MODERATE|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding|1/1||ENST00000361789.2:c.991G>A|ENSP00000354554.1:p.Asp331Asn|991|991|331|D/N|Gac/Aac|||1||||YES||||ENSP00000354554|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=159;ECNT=2;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=8.8616e-05;GNOMAD_MTAF_hom=0.00012406;MBQ=40,40;MFRL=339,356;MMQ=60,60;MPOS=43;OCM=0;POPAF=2.4;TLOD=5.83\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:151,3:0.027:154:56,0:68,2:144,3:86,65,2,1", + "chrM\t16304\t.\tT\tC\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|65,81;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=151;ECNT=2;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00014179;GNOMAD_MTAF_hom=0.0555;MBQ=0,40;MFRL=0,345;MMQ=60,60;MPOS=41;OCM=0;POPAF=2.4;TLOD=610.81\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,146:0.993:146:0,59:0,59:0,139:0|1:7983_C_A:7983:0,0,65,81", + "chrM\t263\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|29,79;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=115;ECNT=22;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00019497;GNOMAD_MTAF_hom=0.9907;MBQ=0,40;MFRL=0,320;MMQ=60,60;MPOS=35;OCM=0;POPAF=2.4;TLOD=442.59\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,108:0.991:108:0,51:0,45:0,104:0,0,29,79", + "chrM\t302\t.\tA\tAC\t.\tPASS\tAS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=3,0|6,56|2,0|2,3;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=95;ECNT=22;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.8407;GNOMAD_MTAF_hom=0.00057874;MBQ=24,40;MFRL=289,338;MMQ=60,60;MPOS=39;OCM=0;POPAF=2.4;RPA=7,8;RU=C;STR;TLOD=161.28\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1/0/0:3,62:0.881:72:0,28:1,22:2,60:3,0,10,59", + "chrM\t302\t.\tA\tACC\t.\tPASS\tAS_FilterStatus=strand_bias|weak_evidence;AS_SB_TABLE=3,0|6,56|2,0|2,3;CSQ=CC|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=95;ECNT=22;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.3493;GNOMAD_MTAF_hom=0;MBQ=24,40;MFRL=289,288;MMQ=60,60;MPOS=20;OCM=0;POPAF=2.4;RPA=7,9;RU=C;STR;TLOD=3.75\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/0/0/1:3,5:0.073:72:0,1:1,3:2,5:3,0,10,59", + "chrM\t302\t.\tACCC\tA\t.\tPASS\tAS_FilterStatus=base_qual;AS_SB_TABLE=3,0|6,56|2,0|2,3;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=95;ECNT=22;ECNTH=14;FOUND_IN=mutect2;GNOMAD_MTAF_het=0;GNOMAD_MTAF_hom=1.772e-05;MBQ=24,18;MFRL=289,396;MMQ=60,60;MPOS=21;OCM=0;POPAF=2.4;RPA=7,4;RU=C;STR;TLOD=1.3\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/0/1/0:3,2:0.019:72:0,0:1,1:2,1:3,0,10,59", + "chrM\t310\t.\tT\tTA\t.\tPASS\tAS_FilterStatus=base_qual;AS_SB_TABLE=0,0|13,64|1,0;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=85;ECNT=22;ECNTH=14;FOUND_IN=mutect2;GNOMAD_MTAF_het=0;GNOMAD_MTAF_hom=0;MBQ=0,12;MFRL=0,482;MMQ=60,60;MPOS=32;OCM=0;POPAF=2.4;TLOD=1.14\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/0/1:0,1:0.021:78:0,0:0,0:0,1:0,0,14,64", + "chrM\t310\t.\tT\tTC\t.\tPASS\tAS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=0,0|13,64|1,0;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=85;ECNT=22;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.3602;GNOMAD_MTAF_hom=0.6255;MBQ=0,40;MFRL=0,340;MMQ=60,60;MPOS=34;OCM=0;POPAF=2.4;TLOD=284.93\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1/0:0,77:0.968:78:0,30:0,25:0,77:0,0,14,64", + "chrM\t4336\t.\tT\tC\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|78,79;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|MT-TQ|ENSG00000210107|Transcript|ENST00000387372|Mt_tRNA|1/1||ENST00000387372.1:n.65A>G||65|||||||-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=159;ECNT=10;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=1.7723e-05;GNOMAD_MTAF_hom=0.013062;MBQ=0,40;MFRL=0,326;MMQ=60,60;MPOS=39;OCM=0;POPAF=2.4;TLOD=672.47;mitotip_score=11.1228;mitotip_trna_prediction=possibly_benign\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,157:0.994:157:0,47:0,53:0,153:0,0,78,79", + "chrM\t456\t.\tC\tT\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|69,63;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=135;ECNT=2;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00012414;GNOMAD_MTAF_hom=0.0265;MBQ=0,40;MFRL=0,348;MMQ=60,60;MPOS=31;OCM=0;POPAF=2.4;TLOD=542.91\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,132:0.992:132:0,63:0,58:0,126:0|1:8696_C_A:8696:0,0,69,63", + "chrM\t4769\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|58,68;CSQ=G|missense_variant|MODERATE|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding|1/1||ENST00000361453.3:c.300A>G|ENSP00000355046.1:p.Ile100Met|300|300|100|I/M|atA/atG|||1||||YES||||ENSP00000355046|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=130;ECNT=7;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=3.5493e-05;GNOMAD_MTAF_hom=0.9839;MBQ=0,40;MFRL=0,334;MMQ=60,60;MPOS=33;OCM=0;POPAF=2.4;TLOD=520.48\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,126:0.992:126:0,49:0,54:0,117:0,0,58,68", + "chrM\t6210\t.\tT\tC\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=83,75|10,5;CSQ=C|stop_lost|HIGH|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding|1/1||ENST00000361624.2:c.307T>C|ENSP00000354499.1:p.Ter103ArgextTer?|307|307|103|*/R|Tga/Cga|||1||||YES||||ENSP00000354499|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=180;ECNT=5;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=1.772e-05;GNOMAD_MTAF_hom=0;MBQ=40,40;MFRL=336,363;MMQ=60,60;MPOS=42;OCM=0;POPAF=2.4;TLOD=43.97\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:158,15:0.095:173:76,7:62,8:152,15:83,75,10,5", + "chrM\t6800\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|82,96;CSQ=G|synonymous_variant|LOW|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding|1/1||ENST00000361624.2:c.897A>G|ENSP00000354499.1:p.Val299%3D|897|897|299|V|gtA/gtG|||1||||YES||||ENSP00000354499|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=183;ECNT=2;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=1.772e-05;GNOMAD_MTAF_hom=0.00028352;MBQ=0,40;MFRL=0,335;MMQ=60,60;MPOS=40;OCM=0;POPAF=2.4;TLOD=750.21\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,178:0.994:178:0,82:0,81:0,171:0|1:6800_A_G:6800:0,0,82,96", + "chrM\t750\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|78,67;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|MT-RNR1|ENSG00000211459|Transcript|ENST00000389680|Mt_rRNA|1/1||ENST00000389680.2:n.103A>G||103|||||||1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=149;ECNT=4;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00010647;GNOMAD_MTAF_hom=0.9834;MBQ=0,40;MFRL=0,339;MMQ=60,60;MPOS=39;OCM=0;POPAF=2.4;TLOD=609.72\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,145:0.993:145:0,57:0,56:0,140:0,0,78,67", + "chrM\t8557\t.\tG\tA\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|92,69;CSQ=A|missense_variant|MODERATE|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding|1/1||ENST00000361899.2:c.31G>A|ENSP00000354632.1:p.Ala11Thr|31|31|11|A/T|Gcc/Acc|||1||||YES||||ENSP00000354632|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|synonymous_variant|LOW|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding|1/1||ENST00000361851.1:c.192G>A|ENSP00000355265.1:p.Leu64%3D|192|192|64|L|ttG/ttA|||1||||YES||||ENSP00000355265|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=165;ECNT=5;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.0001418;GNOMAD_MTAF_hom=0.0084373;MBQ=0,40;MFRL=0,334;MMQ=60,60;MPOS=32;OCM=0;POPAF=2.4;TLOD=708.7\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,161:0.994:161:0,70:0,70:0,155:0|1:8557_G_A:8557:0,0,92,69", + "chrM\t8860\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|57,72;CSQ=G|missense_variant|MODERATE|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding|1/1||ENST00000361899.2:c.334A>G|ENSP00000354632.1:p.Thr112Ala|334|334|112|T/A|Aca/Gca|||1||||YES||||ENSP00000354632|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=131;ECNT=15;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00015952;GNOMAD_MTAF_hom=0.9938;MBQ=0,40;MFRL=0,351;MMQ=60,60;MPOS=37;OCM=0;POPAF=2.4;TLOD=583.4\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,129:0.993:129:0,62:0,59:0,129:0,0,57,72" + ], + "amusingmarmoset_mobile_elements.vcf.gz": [ + "chr1\t10534\t.\tT\t\t14\t.\tACC13778A1_mobile_elements_concat_CHROM=.|chr1;ACC13778A1_mobile_elements_concat_FILTERS=.|.;ACC13778A1_mobile_elements_concat_INFO=.|MEINFO:ALU:10534:10535:NA|NOT_VALIDATED|SVTYPE:INS;ACC13778A1_mobile_elements_concat_POS=.|10534;ACC13778A1_mobile_elements_concat_QUAL=.|14;ACC13778A1_mobile_elements_concat_SAMPLE=.|ACC13778A1|GT:1/1|GQ:14|FL:3|SP:29|CLIP5:6|CLIP3:3;FOUNDBY=1;MEINFO=ALU,10534,10535,NA;NOT_VALIDATED;SUPP_VEC=1;SVTYPE=INS;set=Intersection;svdb_origin=ACC13778A1_mobile_elements_concat\tGT:GQ:FL:SP:CLIP5:CLIP3\t1/1:14:3:29:6:3", + "chr1\t15300\t.\tG\t\t10\t.\tACC13778A1_mobile_elements_concat_CHROM=.|chr1;ACC13778A1_mobile_elements_concat_FILTERS=.|.;ACC13778A1_mobile_elements_concat_INFO=.|MEINFO:ALU:15300:15301:NA|NOT_VALIDATED|SVTYPE:INS;ACC13778A1_mobile_elements_concat_POS=.|15300;ACC13778A1_mobile_elements_concat_QUAL=.|10;ACC13778A1_mobile_elements_concat_SAMPLE=.|ACC13778A1|GT:1/1|GQ:10|FL:3|SP:35|CLIP5:0|CLIP3:4;FOUNDBY=1;MEINFO=ALU,15300,15301,NA;NOT_VALIDATED;SUPP_VEC=1;SVTYPE=INS;set=Intersection;svdb_origin=ACC13778A1_mobile_elements_concat\tGT:GQ:FL:SP:CLIP5:CLIP3\t1/1:10:3:35:0:4", + "chr1\t22266\t.\tT\t\t11\t.\tACC13778A1_mobile_elements_concat_CHROM=.|chr1;ACC13778A1_mobile_elements_concat_FILTERS=.|.;ACC13778A1_mobile_elements_concat_INFO=.|MEINFO:ALU:22266:22267:NA|NOT_VALIDATED|SVTYPE:INS;ACC13778A1_mobile_elements_concat_POS=.|22266;ACC13778A1_mobile_elements_concat_QUAL=.|11;ACC13778A1_mobile_elements_concat_SAMPLE=.|ACC13778A1|GT:1/1|GQ:11|FL:3|SP:30|CLIP5:4|CLIP3:0;FOUNDBY=1;MEINFO=ALU,22266,22267,NA;NOT_VALIDATED;SUPP_VEC=1;SVTYPE=INS;set=Intersection;svdb_origin=ACC13778A1_mobile_elements_concat\tGT:GQ:FL:SP:CLIP5:CLIP3\t1/1:11:3:30:4:0", + "chr20\t31940\t.\tT\t\t23\t.\tACC13778A1_mobile_elements_concat_CHROM=.|chr20;ACC13778A1_mobile_elements_concat_FILTERS=.|.;ACC13778A1_mobile_elements_concat_INFO=.|MEINFO:HERV:31940:31941:NA|NOT_VALIDATED|SVTYPE:INS;ACC13778A1_mobile_elements_concat_POS=.|31940;ACC13778A1_mobile_elements_concat_QUAL=.|23;ACC13778A1_mobile_elements_concat_SAMPLE=.|ACC13778A1|GT:1/1|GQ:23|FL:3|SP:31|CLIP5:9|CLIP3:6;FOUNDBY=1;MEINFO=HERV,31940,31941,NA;NOT_VALIDATED;SUPP_VEC=1;SVTYPE=INS;set=Intersection;svdb_origin=ACC13778A1_mobile_elements_concat\tGT:GQ:FL:SP:CLIP5:CLIP3\t1/1:23:3:31:9:6", + "chr21\t15186\t.\tT\t\t67\t.\tACC13778A1_mobile_elements_concat_CHROM=.|chr21;ACC13778A1_mobile_elements_concat_FILTERS=.|.;ACC13778A1_mobile_elements_concat_INFO=.|MEINFO:ALU:15186:15187:NA|NOT_VALIDATED|SVTYPE:INS;ACC13778A1_mobile_elements_concat_POS=.|15186;ACC13778A1_mobile_elements_concat_QUAL=.|67;ACC13778A1_mobile_elements_concat_SAMPLE=.|ACC13778A1|GT:1/1|GQ:67|FL:3|SP:32|CLIP5:27|CLIP3:33;FOUNDBY=1;MEINFO=ALU,15186,15187,NA;NOT_VALIDATED;SUPP_VEC=1;SVTYPE=INS;set=Intersection;svdb_origin=ACC13778A1_mobile_elements_concat\tGT:GQ:FL:SP:CLIP5:CLIP3\t1/1:67:3:32:27:33", + "chr7\t11851\t.\tT\t\t43\t.\tACC13778A1_mobile_elements_concat_CHROM=.|chr7;ACC13778A1_mobile_elements_concat_FILTERS=.|.;ACC13778A1_mobile_elements_concat_INFO=.|MEINFO:ALU:11851:11852:NA|NOT_VALIDATED|SVTYPE:INS;ACC13778A1_mobile_elements_concat_POS=.|11851;ACC13778A1_mobile_elements_concat_QUAL=.|43;ACC13778A1_mobile_elements_concat_SAMPLE=.|ACC13778A1|GT:1/1|GQ:43|FL:8|SP:17|CLIP5:11|CLIP3:10;FOUNDBY=1;MEINFO=ALU,11851,11852,NA;NOT_VALIDATED;SUPP_VEC=1;SVTYPE=INS;set=Intersection;svdb_origin=ACC13778A1_mobile_elements_concat\tGT:GQ:FL:SP:CLIP5:CLIP3\t1/1:43:8:17:11:10", + "chr7\t9725\t.\tA\t\t36\t.\tACC13778A1_mobile_elements_concat_CHROM=.|chr7;ACC13778A1_mobile_elements_concat_FILTERS=.|.;ACC13778A1_mobile_elements_concat_INFO=.|MEINFO:ALU:9725:9726:NA|NOT_VALIDATED|SVTYPE:INS;ACC13778A1_mobile_elements_concat_POS=.|9725;ACC13778A1_mobile_elements_concat_QUAL=.|36;ACC13778A1_mobile_elements_concat_SAMPLE=.|ACC13778A1|GT:1/1|GQ:36|FL:3|SP:24|CLIP5:13|CLIP3:19;FOUNDBY=1;MEINFO=ALU,9725,9726,NA;NOT_VALIDATED;SUPP_VEC=1;SVTYPE=INS;set=Intersection;svdb_origin=ACC13778A1_mobile_elements_concat\tGT:GQ:FL:SP:CLIP5:CLIP3\t1/1:36:3:24:13:19" + ], + "amusingmarmoset_mt_ranked_clinical.vcf.gz": [ + "chrM\t1438\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=1,0|72,77;Annotation=MT-RNR1;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|MT-RNR1|ENSG00000211459|Transcript|ENST00000389680|Mt_rRNA|1/1||ENST00000389680.2:n.791A>G||791|||||||1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_750_A_G>10.0;CompoundsNormalized=amusingmarmoset:chrM_750_A_G>1.1724137931034484;DP=151;ECNT=8;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=7.1158e-05;GNOMAD_MTAF_hom=0.9561;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=12,40;MFRL=373,332;MMQ=60,60;MPOS=37;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=632.97\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:1,149:0.991:150:0,68:0,59:1,143:0|1:9721_C_A:9721:1,0,72,77", + "chrM\t15175\t.\tC\tT\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|78,74;Annotation=MT-CYB;CSQ=T|synonymous_variant|LOW|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding|1/1||ENST00000361789.2:c.429C>T|ENSP00000354554.1:p.Ala143%3D|429|429|143|A|gcC/gcT|||1||||YES||||ENSP00000354554|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_15326_A_G>10.0;CompoundsNormalized=amusingmarmoset:chrM_15326_A_G>1.1724137931034484;DP=156;ECNT=9;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0;GNOMAD_MTAF_hom=0.00077969;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=0,40;MFRL=0,344;MMQ=60,60;MPOS=38;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=658.17\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,152:0.993:152:0,55:0,66:0,146:0,0,78,74", + "chrM\t15326\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|80,80;Annotation=MT-CYB;CSQ=G|missense_variant|MODERATE|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding|1/1||ENST00000361789.2:c.580A>G|ENSP00000354554.1:p.Thr194Ala|580|580|194|T/A|Aca/Gca|||1||||YES||||ENSP00000354554|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_15175_C_T>10.0;CompoundsNormalized=amusingmarmoset:chrM_15175_C_T>1.1724137931034484;DP=164;ECNT=9;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00021277;GNOMAD_MTAF_hom=0.9934;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=0,40;MFRL=0,344;MMQ=60,60;MPOS=40;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=685.94\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,160:0.994:160:0,48:0,41:0,156:0,0,80,80", + "chrM\t16304\t.\tT\tC\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|65,81;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=151;ECNT=2;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00014179;GNOMAD_MTAF_hom=0.0555;GeneticModels=amusingmarmoset:AD;MBQ=0,40;MFRL=0,345;MMQ=60,60;MPOS=41;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;TLOD=610.81\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,146:0.993:146:0,59:0,59:0,139:0|1:7983_C_A:7983:0,0,65,81", + "chrM\t263\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|29,79;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=115;ECNT=22;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00019497;GNOMAD_MTAF_hom=0.9907;GeneticModels=amusingmarmoset:AD;MBQ=0,40;MFRL=0,320;MMQ=60,60;MPOS=35;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;TLOD=442.59\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,108:0.991:108:0,51:0,45:0,104:0,0,29,79", + "chrM\t302\t.\tA\tAC\t.\tPASS\tAS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=3,0|6,56|2,0|2,3;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=95;ECNT=22;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.8407;GNOMAD_MTAF_hom=0.00057874;MBQ=24,40;MFRL=289,338;MMQ=60,60;MPOS=39;OCM=0;POPAF=2.4;RPA=7,8;RU=C;RankResult=4|0|0|-12|0|0|3|0|0|0;RankScore=amusingmarmoset:-5.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.41379310344827586;STR;TLOD=161.28\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1/0/0:3,62:0.881:72:0,28:1,22:2,60:3,0,10,59", + "chrM\t302\t.\tA\tACC\t.\tPASS\tAS_FilterStatus=strand_bias|weak_evidence;AS_SB_TABLE=3,0|6,56|2,0|2,3;CSQ=CC|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=95;ECNT=22;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.3493;GNOMAD_MTAF_hom=0;GeneticModels=amusingmarmoset:AD;MBQ=24,40;MFRL=289,288;MMQ=60,60;MPOS=20;OCM=0;POPAF=2.4;RPA=7,9;RU=C;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;STR;TLOD=3.75\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/0/0/1:3,5:0.073:72:0,1:1,3:2,5:3,0,10,59", + "chrM\t310\t.\tT\tTC\t.\tPASS\tAS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=0,0|13,64|1,0;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=85;ECNT=22;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.3602;GNOMAD_MTAF_hom=0.6255;MBQ=0,40;MFRL=0,340;MMQ=60,60;MPOS=34;OCM=0;POPAF=2.4;RankResult=4|0|0|-12|0|0|3|0|0|0;RankScore=amusingmarmoset:-5.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.41379310344827586;TLOD=284.93\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1/0:0,77:0.968:78:0,30:0,25:0,77:0,0,14,64", + "chrM\t4336\t.\tT\tC\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|78,79;Annotation=MT-TQ;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|MT-TQ|ENSG00000210107|Transcript|ENST00000387372|Mt_tRNA|1/1||ENST00000387372.1:n.65A>G||65|||||||-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=159;ECNT=10;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=1.7723e-05;GNOMAD_MTAF_hom=0.013062;GeneticModels=amusingmarmoset:AD;MBQ=0,40;MFRL=0,326;MMQ=60,60;MPOS=39;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;TLOD=672.47;mitotip_score=11.1228;mitotip_trna_prediction=possibly_benign\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,157:0.994:157:0,47:0,53:0,153:0,0,78,79", + "chrM\t456\t.\tC\tT\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|69,63;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=135;ECNT=2;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00012414;GNOMAD_MTAF_hom=0.0265;GeneticModels=amusingmarmoset:AD;MBQ=0,40;MFRL=0,348;MMQ=60,60;MPOS=31;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;TLOD=542.91\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,132:0.992:132:0,63:0,58:0,126:0|1:8696_C_A:8696:0,0,69,63", + "chrM\t4769\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|58,68;Annotation=MT-ND2;CSQ=G|missense_variant|MODERATE|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding|1/1||ENST00000361453.3:c.300A>G|ENSP00000355046.1:p.Ile100Met|300|300|100|I/M|atA/atG|||1||||YES||||ENSP00000355046|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=130;ECNT=7;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=3.5493e-05;GNOMAD_MTAF_hom=0.9839;GeneticModels=amusingmarmoset:AD;MBQ=0,40;MFRL=0,334;MMQ=60,60;MPOS=33;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;TLOD=520.48\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,126:0.992:126:0,49:0,54:0,117:0,0,58,68", + "chrM\t6210\t.\tT\tC\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=83,75|10,5;Annotation=MT-CO1;CSQ=C|stop_lost|HIGH|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding|1/1||ENST00000361624.2:c.307T>C|ENSP00000354499.1:p.Ter103ArgextTer?|307|307|103|*/R|Tga/Cga|||1||||YES||||ENSP00000354499|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_6800_A_G>10.0;CompoundsNormalized=amusingmarmoset:chrM_6800_A_G>1.1724137931034484;DP=180;ECNT=5;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=1.772e-05;GNOMAD_MTAF_hom=0;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=40,40;MFRL=336,363;MMQ=60,60;MPOS=42;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=43.97\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:158,15:0.095:173:76,7:62,8:152,15:83,75,10,5", + "chrM\t6800\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|82,96;Annotation=MT-CO1;CSQ=G|synonymous_variant|LOW|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding|1/1||ENST00000361624.2:c.897A>G|ENSP00000354499.1:p.Val299%3D|897|897|299|V|gtA/gtG|||1||||YES||||ENSP00000354499|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_6210_T_C>10.0;CompoundsNormalized=amusingmarmoset:chrM_6210_T_C>1.1724137931034484;DP=183;ECNT=2;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=1.772e-05;GNOMAD_MTAF_hom=0.00028352;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=0,40;MFRL=0,335;MMQ=60,60;MPOS=40;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=750.21\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,178:0.994:178:0,82:0,81:0,171:0|1:6800_A_G:6800:0,0,82,96", + "chrM\t750\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|78,67;Annotation=MT-RNR1;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|MT-RNR1|ENSG00000211459|Transcript|ENST00000389680|Mt_rRNA|1/1||ENST00000389680.2:n.103A>G||103|||||||1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_1438_A_G>10.0;CompoundsNormalized=amusingmarmoset:chrM_1438_A_G>1.1724137931034484;DP=149;ECNT=4;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00010647;GNOMAD_MTAF_hom=0.9834;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=0,40;MFRL=0,339;MMQ=60,60;MPOS=39;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=609.72\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,145:0.993:145:0,57:0,56:0,140:0,0,78,67", + "chrM\t8557\t.\tG\tA\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|92,69;Annotation=MT-ATP6,MT-ATP8;CSQ=A|missense_variant|MODERATE|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding|1/1||ENST00000361899.2:c.31G>A|ENSP00000354632.1:p.Ala11Thr|31|31|11|A/T|Gcc/Acc|||1||||YES||||ENSP00000354632|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|synonymous_variant|LOW|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding|1/1||ENST00000361851.1:c.192G>A|ENSP00000355265.1:p.Leu64%3D|192|192|64|L|ttG/ttA|||1||||YES||||ENSP00000355265|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_8860_A_G>10.0;CompoundsNormalized=amusingmarmoset:chrM_8860_A_G>1.1724137931034484;DP=165;ECNT=5;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.0001418;GNOMAD_MTAF_hom=0.0084373;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=0,40;MFRL=0,334;MMQ=60,60;MPOS=32;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=708.7\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,161:0.994:161:0,70:0,70:0,155:0|1:8557_G_A:8557:0,0,92,69", + "chrM\t8860\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|57,72;Annotation=MT-ATP6;CSQ=G|missense_variant|MODERATE|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding|1/1||ENST00000361899.2:c.334A>G|ENSP00000354632.1:p.Thr112Ala|334|334|112|T/A|Aca/Gca|||1||||YES||||ENSP00000354632|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_8557_G_A>10.0;CompoundsNormalized=amusingmarmoset:chrM_8557_G_A>1.1724137931034484;DP=131;ECNT=15;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00015952;GNOMAD_MTAF_hom=0.9938;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=0,40;MFRL=0,351;MMQ=60,60;MPOS=37;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=583.4\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,129:0.993:129:0,62:0,59:0,129:0,0,57,72" + ], + "amusingmarmoset_mt_ranked_research.vcf.gz": [ + "chrM\t1438\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=1,0|72,77;Annotation=MT-RNR1;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|MT-RNR1|ENSG00000211459|Transcript|ENST00000389680|Mt_rRNA|1/1||ENST00000389680.2:n.791A>G||791|||||||1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_750_A_G>10.0;CompoundsNormalized=amusingmarmoset:chrM_750_A_G>1.1724137931034484;DP=151;ECNT=8;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=7.1158e-05;GNOMAD_MTAF_hom=0.9561;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=12,40;MFRL=373,332;MMQ=60,60;MPOS=37;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=632.97\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:1,149:0.991:150:0,68:0,59:1,143:0|1:9721_C_A:9721:1,0,72,77", + "chrM\t15175\t.\tC\tT\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|78,74;Annotation=MT-CYB;CSQ=T|synonymous_variant|LOW|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding|1/1||ENST00000361789.2:c.429C>T|ENSP00000354554.1:p.Ala143%3D|429|429|143|A|gcC/gcT|||1||||YES||||ENSP00000354554|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_15326_A_G>10.0|chrM_15737_G_A>10.0;CompoundsNormalized=amusingmarmoset:chrM_15326_A_G>1.1724137931034484|chrM_15737_G_A>1.1724137931034484;DP=156;ECNT=9;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0;GNOMAD_MTAF_hom=0.00077969;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=0,40;MFRL=0,344;MMQ=60,60;MPOS=38;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=658.17\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,152:0.993:152:0,55:0,66:0,146:0,0,78,74", + "chrM\t15326\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|80,80;Annotation=MT-CYB;CSQ=G|missense_variant|MODERATE|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding|1/1||ENST00000361789.2:c.580A>G|ENSP00000354554.1:p.Thr194Ala|580|580|194|T/A|Aca/Gca|||1||||YES||||ENSP00000354554|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_15175_C_T>10.0|chrM_15737_G_A>10.0;CompoundsNormalized=amusingmarmoset:chrM_15175_C_T>1.1724137931034484|chrM_15737_G_A>1.1724137931034484;DP=164;ECNT=9;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00021277;GNOMAD_MTAF_hom=0.9934;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=0,40;MFRL=0,344;MMQ=60,60;MPOS=40;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=685.94\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,160:0.994:160:0,48:0,41:0,156:0,0,80,80", + "chrM\t15737\t.\tG\tA\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=86,65|2,1;Annotation=MT-CYB;CSQ=A|missense_variant|MODERATE|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding|1/1||ENST00000361789.2:c.991G>A|ENSP00000354554.1:p.Asp331Asn|991|991|331|D/N|Gac/Aac|||1||||YES||||ENSP00000354554|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_15175_C_T>10.0|chrM_15326_A_G>10.0;CompoundsNormalized=amusingmarmoset:chrM_15175_C_T>1.1724137931034484|chrM_15326_A_G>1.1724137931034484;DP=159;ECNT=2;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=8.8616e-05;GNOMAD_MTAF_hom=0.00012406;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=40,40;MFRL=339,356;MMQ=60,60;MPOS=43;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=5.83\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:151,3:0.027:154:56,0:68,2:144,3:86,65,2,1", + "chrM\t16304\t.\tT\tC\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|65,81;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=151;ECNT=2;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00014179;GNOMAD_MTAF_hom=0.0555;GeneticModels=amusingmarmoset:AD;MBQ=0,40;MFRL=0,345;MMQ=60,60;MPOS=41;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;TLOD=610.81\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,146:0.993:146:0,59:0,59:0,139:0|1:7983_C_A:7983:0,0,65,81", + "chrM\t263\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|29,79;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=115;ECNT=22;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00019497;GNOMAD_MTAF_hom=0.9907;GeneticModels=amusingmarmoset:AD;MBQ=0,40;MFRL=0,320;MMQ=60,60;MPOS=35;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;TLOD=442.59\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,108:0.991:108:0,51:0,45:0,104:0,0,29,79", + "chrM\t302\t.\tA\tAC\t.\tPASS\tAS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=3,0|6,56|2,0|2,3;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=95;ECNT=22;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.8407;GNOMAD_MTAF_hom=0.00057874;MBQ=24,40;MFRL=289,338;MMQ=60,60;MPOS=39;OCM=0;POPAF=2.4;RPA=7,8;RU=C;RankResult=4|0|0|-12|0|0|3|0|0|0;RankScore=amusingmarmoset:-5.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.41379310344827586;STR;TLOD=161.28\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1/0/0:3,62:0.881:72:0,28:1,22:2,60:3,0,10,59", + "chrM\t302\t.\tA\tACC\t.\tPASS\tAS_FilterStatus=strand_bias|weak_evidence;AS_SB_TABLE=3,0|6,56|2,0|2,3;CSQ=CC|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=95;ECNT=22;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.3493;GNOMAD_MTAF_hom=0;GeneticModels=amusingmarmoset:AD;MBQ=24,40;MFRL=289,288;MMQ=60,60;MPOS=20;OCM=0;POPAF=2.4;RPA=7,9;RU=C;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;STR;TLOD=3.75\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/0/0/1:3,5:0.073:72:0,1:1,3:2,5:3,0,10,59", + "chrM\t302\t.\tACCC\tA\t.\tPASS\tAS_FilterStatus=base_qual;AS_SB_TABLE=3,0|6,56|2,0|2,3;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=95;ECNT=22;ECNTH=14;FOUND_IN=mutect2;GNOMAD_MTAF_het=0;GNOMAD_MTAF_hom=1.772e-05;MBQ=24,18;MFRL=289,396;MMQ=60,60;MPOS=21;OCM=0;POPAF=2.4;RPA=7,4;RU=C;RankResult=4|0|0|-12|0|0|3|0|0|0;RankScore=amusingmarmoset:-5.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.41379310344827586;STR;TLOD=1.3\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/0/1/0:3,2:0.019:72:0,0:1,1:2,1:3,0,10,59", + "chrM\t310\t.\tT\tTA\t.\tPASS\tAS_FilterStatus=base_qual;AS_SB_TABLE=0,0|13,64|1,0;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=85;ECNT=22;ECNTH=14;FOUND_IN=mutect2;GNOMAD_MTAF_het=0;GNOMAD_MTAF_hom=0;GeneticModels=amusingmarmoset:AD;MBQ=0,12;MFRL=0,482;MMQ=60,60;MPOS=32;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;TLOD=1.14\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/0/1:0,1:0.021:78:0,0:0,0:0,1:0,0,14,64", + "chrM\t310\t.\tT\tTC\t.\tPASS\tAS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=0,0|13,64|1,0;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=85;ECNT=22;ECNTH=2;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.3602;GNOMAD_MTAF_hom=0.6255;MBQ=0,40;MFRL=0,340;MMQ=60,60;MPOS=34;OCM=0;POPAF=2.4;RankResult=4|0|0|-12|0|0|3|0|0|0;RankScore=amusingmarmoset:-5.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.41379310344827586;TLOD=284.93\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1/0:0,77:0.968:78:0,30:0,25:0,77:0,0,14,64", + "chrM\t4336\t.\tT\tC\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|78,79;Annotation=MT-TQ;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|MT-TQ|ENSG00000210107|Transcript|ENST00000387372|Mt_tRNA|1/1||ENST00000387372.1:n.65A>G||65|||||||-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=159;ECNT=10;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=1.7723e-05;GNOMAD_MTAF_hom=0.013062;GeneticModels=amusingmarmoset:AD;MBQ=0,40;MFRL=0,326;MMQ=60,60;MPOS=39;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;TLOD=672.47;mitotip_score=11.1228;mitotip_trna_prediction=possibly_benign\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,157:0.994:157:0,47:0,53:0,153:0,0,78,79", + "chrM\t456\t.\tC\tT\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|69,63;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;DP=135;ECNT=2;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00012414;GNOMAD_MTAF_hom=0.0265;GeneticModels=amusingmarmoset:AD;MBQ=0,40;MFRL=0,348;MMQ=60,60;MPOS=31;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;TLOD=542.91\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,132:0.992:132:0,63:0,58:0,126:0|1:8696_C_A:8696:0,0,69,63", + "chrM\t4769\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|58,68;Annotation=MT-ND2;CSQ=G|missense_variant|MODERATE|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding|1/1||ENST00000361453.3:c.300A>G|ENSP00000355046.1:p.Ile100Met|300|300|100|I/M|atA/atG|||1||||YES||||ENSP00000355046|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;DP=130;ECNT=7;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=3.5493e-05;GNOMAD_MTAF_hom=0.9839;GeneticModels=amusingmarmoset:AD;MBQ=0,40;MFRL=0,334;MMQ=60,60;MPOS=33;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;TLOD=520.48\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,126:0.992:126:0,49:0,54:0,117:0,0,58,68", + "chrM\t6210\t.\tT\tC\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=83,75|10,5;Annotation=MT-CO1;CSQ=C|stop_lost|HIGH|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding|1/1||ENST00000361624.2:c.307T>C|ENSP00000354499.1:p.Ter103ArgextTer?|307|307|103|*/R|Tga/Cga|||1||||YES||||ENSP00000354499|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_6800_A_G>10.0;CompoundsNormalized=amusingmarmoset:chrM_6800_A_G>1.1724137931034484;DP=180;ECNT=5;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=1.772e-05;GNOMAD_MTAF_hom=0;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=40,40;MFRL=336,363;MMQ=60,60;MPOS=42;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=43.97\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:158,15:0.095:173:76,7:62,8:152,15:83,75,10,5", + "chrM\t6800\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|82,96;Annotation=MT-CO1;CSQ=G|synonymous_variant|LOW|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding|1/1||ENST00000361624.2:c.897A>G|ENSP00000354499.1:p.Val299%3D|897|897|299|V|gtA/gtG|||1||||YES||||ENSP00000354499|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_6210_T_C>10.0;CompoundsNormalized=amusingmarmoset:chrM_6210_T_C>1.1724137931034484;DP=183;ECNT=2;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=1.772e-05;GNOMAD_MTAF_hom=0.00028352;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=0,40;MFRL=0,335;MMQ=60,60;MPOS=40;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=750.21\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,178:0.994:178:0,82:0,81:0,171:0|1:6800_A_G:6800:0,0,82,96", + "chrM\t750\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|78,67;Annotation=MT-RNR1;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|MT-RNR1|ENSG00000211459|Transcript|ENST00000389680|Mt_rRNA|1/1||ENST00000389680.2:n.103A>G||103|||||||1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_1438_A_G>10.0;CompoundsNormalized=amusingmarmoset:chrM_1438_A_G>1.1724137931034484;DP=149;ECNT=4;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00010647;GNOMAD_MTAF_hom=0.9834;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=0,40;MFRL=0,339;MMQ=60,60;MPOS=39;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=609.72\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,145:0.993:145:0,57:0,56:0,140:0,0,78,67", + "chrM\t8557\t.\tG\tA\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|92,69;Annotation=MT-ATP6,MT-ATP8;CSQ=A|missense_variant|MODERATE|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding|1/1||ENST00000361899.2:c.31G>A|ENSP00000354632.1:p.Ala11Thr|31|31|11|A/T|Gcc/Acc|||1||||YES||||ENSP00000354632|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|synonymous_variant|LOW|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding|1/1||ENST00000361851.1:c.192G>A|ENSP00000355265.1:p.Leu64%3D|192|192|64|L|ttG/ttA|||1||||YES||||ENSP00000355265|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_8860_A_G>10.0;CompoundsNormalized=amusingmarmoset:chrM_8860_A_G>1.1724137931034484;DP=165;ECNT=5;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.0001418;GNOMAD_MTAF_hom=0.0084373;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=0,40;MFRL=0,334;MMQ=60,60;MPOS=32;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=708.7\tGT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB\t0|1:0,161:0.994:161:0,70:0,70:0,155:0|1:8557_G_A:8557:0,0,92,69", + "chrM\t8860\t.\tA\tG\t.\tPASS\tAS_FilterStatus=SITE;AS_SB_TABLE=0,0|57,72;Annotation=MT-ATP6;CSQ=G|missense_variant|MODERATE|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding|1/1||ENST00000361899.2:c.334A>G|ENSP00000354632.1:p.Thr112Ala|334|334|112|T/A|Aca/Gca|||1||||YES||||ENSP00000354632|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chrM_8557_G_A>10.0;CompoundsNormalized=amusingmarmoset:chrM_8557_G_A>1.1724137931034484;DP=131;ECNT=15;ECNTH=1;FOUND_IN=mutect2;GNOMAD_MTAF_het=0.00015952;GNOMAD_MTAF_hom=0.9938;GeneticModels=amusingmarmoset:AD|AR_comp;MBQ=0,40;MFRL=0,351;MMQ=60,60;MPOS=37;OCM=0;POPAF=2.4;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:2.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5344827586206897;TLOD=583.4\tGT:AD:AF:DP:F1R2:F2R1:FAD:SB\t0/1:0,129:0.993:129:0,62:0,59:0,129:0,0,57,72" + ], + "amusingmarmoset_repeat_expansion_stranger.vcf.gz": [ + "chr12\t38721\t.\tG\t\t.\tPASS\tACC13778A1_split_exp_CHROM=.|chr12;ACC13778A1_split_exp_FILTERS=.|PASS;ACC13778A1_split_exp_INFO=.|END:38756|REF:11|REPID:RILPL1|RL:35|RU:GGC|VARID:RILPL1;ACC13778A1_split_exp_POS=.|38721;ACC13778A1_split_exp_QUAL=.|.;ACC13778A1_split_exp_SAMPLE=.|ACC13778A1|GT:1/1|SO:SPANNING/SPANNING|REPCN:12/12|REPCI:12-12/12-12|ADSP:11/11|ADFL:10/10|ADIR:0/0|LC:28.3784;Disease=OPDM4;DisplayRU=CGG;END=38756;HGNCId=26814;InheritanceMode=AD;REF=11;REPID=RILPL1;RL=35;RU=GGC;RankScore=1:10;STR_NORMAL_MAX=16;STR_PATHOLOGIC_MIN=139;STR_STATUS=normal;SUPP_VEC=1;Source=PubMed;SourceDisplay=Yu et al (2022) AJHG 109(3):533-541;SourceId=35148830;VARID=RILPL1\tGT:SO:REPCN:REPCI:ADSP:ADFL:ADIR:LC\t1/1:SPANNING/SPANNING:12/12:12-12/12-12:11/11:10/10:0/0:28.3784", + "chr16\t5908\t.\tG\t\t.\tPASS\tACC13778A1_split_exp_CHROM=.|chr16;ACC13778A1_split_exp_FILTERS=.|PASS;ACC13778A1_split_exp_INFO=.|END:5923|REF:5|REPID:XYLT1|RL:15|RU:GCC|VARID:XYLT1;ACC13778A1_split_exp_POS=.|5908;ACC13778A1_split_exp_QUAL=.|.;ACC13778A1_split_exp_SAMPLE=.|ACC13778A1|GT:1/0|SO:SPANNING/SPANNING|REPCN:1/40|REPCI:1-1/38-53|ADSP:5/1|ADFL:1/23|ADIR:0/0|LC:27.6486;Disease=DBQD2;DisplayRU=GGC;END=5923;HGNCId=15516;InheritanceMode=AR;REF=5;REPID=XYLT1;RL=15;RU=GCC;RankScore=1:10;STR_NORMAL_MAX=60;STR_PATHOLOGIC_MIN=70;STR_STATUS=normal;SUPP_VEC=1;Source=PubMed;SourceDisplay=LaCroix et al (2018) AJHG 104(1) 35-44;SourceId=30554721;VARID=XYLT1\tGT:SO:REPCN:REPCI:ADSP:ADFL:ADIR:LC\t1/0:SPANNING/SPANNING:1/40:1-1/38-53:5/1:1/23:0/0:27.6486", + "chr16\t5908\t.\tG\t\t.\tPASS\tACC13778A1_split_exp_CHROM=.|chr16;ACC13778A1_split_exp_FILTERS=.|PASS;ACC13778A1_split_exp_INFO=.|END:5923|REF:5|REPID:XYLT1|RL:15|RU:GCC|VARID:XYLT1;ACC13778A1_split_exp_POS=.|5908;ACC13778A1_split_exp_QUAL=.|.;ACC13778A1_split_exp_SAMPLE=.|ACC13778A1|GT:0/1|SO:SPANNING/SPANNING|REPCN:1/40|REPCI:1-1/38-53|ADSP:5/1|ADFL:1/23|ADIR:0/0|LC:27.6486;Disease=DBQD2;DisplayRU=GGC;END=5923;HGNCId=15516;InheritanceMode=AR;REF=5;REPID=XYLT1;RL=15;RU=GCC;RankScore=1:10;STR_NORMAL_MAX=60;STR_PATHOLOGIC_MIN=70;STR_STATUS=normal;SUPP_VEC=1;Source=PubMed;SourceDisplay=LaCroix et al (2018) AJHG 104(1) 35-44;SourceId=30554721;VARID=XYLT1\tGT:SO:REPCN:REPCI:ADSP:ADFL:ADIR:LC\t0/1:SPANNING/SPANNING:1/40:1-1/38-53:5/1:1/23:0/0:27.6486", + "chr20\t4734\t.\tG\t\t.\tPASS\tACC13778A1_split_exp_CHROM=.|chr20;ACC13778A1_split_exp_FILTERS=.|PASS;ACC13778A1_split_exp_INFO=.|END:4758|REF:4|REPID:NOP56|RL:24|RU:GGCCTG|VARID:NOP56;ACC13778A1_split_exp_POS=.|4734;ACC13778A1_split_exp_QUAL=.|.;ACC13778A1_split_exp_SAMPLE=.|ACC13778A1|GT:0/1|SO:SPANNING/SPANNING|REPCN:4/7|REPCI:4-4/7-7|ADSP:8/13|ADFL:8/14|ADIR:0/0|LC:30.6486;Disease=SCA36;DisplayRU=GGCCTG;END=4758;HGNCId=15911;InheritanceMode=AD;REF=4;REPID=NOP56;RL=24;RU=GGCCTG;RankScore=1:10;STR_NORMAL_MAX=14;STR_PATHOLOGIC_MIN=650;STR_STATUS=normal;SUPP_VEC=1;Source=GeneReviews;SourceDisplay=GeneReviews Internet 2014-08-07;SourceId=NBK231880;VARID=NOP56\tGT:SO:REPCN:REPCI:ADSP:ADFL:ADIR:LC\t0/1:SPANNING/SPANNING:4/7:4-4/7-7:8/13:8/14:0/0:30.6486", + "chr20\t4758\t.\tG\t\t.\tPASS\tACC13778A1_split_exp_CHROM=.|chr20;ACC13778A1_split_exp_FILTERS=.|PASS;ACC13778A1_split_exp_INFO=.|END:4776|REF:3|REPID:NOP56_CGCCTG|RL:18|RU:CGCCTG|VARID:NOP56_CGCCTG;ACC13778A1_split_exp_POS=.|4758;ACC13778A1_split_exp_QUAL=.|.;ACC13778A1_split_exp_SAMPLE=.|ACC13778A1|GT:1/1|SO:SPANNING/SPANNING|REPCN:2/2|REPCI:2-2/2-2|ADSP:26/26|ADFL:4/4|ADIR:0/0|LC:30.6486;END=4776;REF=3;REPID=NOP56_CGCCTG;RL=18;RU=CGCCTG;SUPP_VEC=1;VARID=NOP56_CGCCTG\tGT:SO:REPCN:REPCI:ADSP:ADFL:ADIR:LC\t1/1:SPANNING/SPANNING:2/2:2-2/2-2:26/26:4/4:0/0:30.6486", + "chr21\t4444\t.\tG\t\t.\tPASS\tACC13778A1_split_exp_CHROM=.|chr21;ACC13778A1_split_exp_FILTERS=.|PASS;ACC13778A1_split_exp_INFO=.|END:4480|REF:3|REPID:CSTB|RL:36|RU:CGCGGGGCGGGG|VARID:CSTB;ACC13778A1_split_exp_POS=.|4444;ACC13778A1_split_exp_QUAL=.|.;ACC13778A1_split_exp_SAMPLE=.|ACC13778A1|GT:1/1|SO:SPANNING/SPANNING|REPCN:2/2|REPCI:2-2/2-2|ADSP:27/27|ADFL:5/5|ADIR:0/0|LC:37.1091;Disease=EPM1;DisplayRU=CCCCGCCCCGCG;END=4480;HGNCId=2482;InheritanceMode=AR;REF=3;REPID=CSTB;RL=36;RU=CGCGGGGCGGGG;RankScore=1:10;STR_NORMAL_MAX=3;STR_PATHOLOGIC_MIN=30;STR_STATUS=normal;SUPP_VEC=1;Source=GeneReviews;SourceDisplay=GeneReviews Internet 2019-11-07;SourceId=NBK535148;VARID=CSTB\tGT:SO:REPCN:REPCI:ADSP:ADFL:ADIR:LC\t1/1:SPANNING/SPANNING:2/2:2-2/2-2:27/27:5/5:0/0:37.1091", + "chrX\t19317\t.\tT\t.\t.\tPASS\tACC13778A1_split_exp_CHROM=.|chrX;ACC13778A1_split_exp_FILTERS=.|PASS;ACC13778A1_split_exp_INFO=.|END:19362|REF:15|REPID:SOX3|RL:45|RU:NGC|VARID:SOX3;ACC13778A1_split_exp_POS=.|19317;ACC13778A1_split_exp_QUAL=.|.;ACC13778A1_split_exp_SAMPLE=.|ACC13778A1|GT:0|SO:SPANNING|REPCN:15|REPCI:15-15|ADSP:6|ADFL:6|ADIR:0|LC:11.5965;Disease=MRGH;DisplayRU=GCN;END=19362;HGNCId=11199;InheritanceMode=XR;REF=15;REPID=SOX3;RL=45;RU=NGC;RankScore=1:10;STR_NORMAL_MAX=15;STR_PATHOLOGIC_MIN=22;STR_STATUS=normal;SUPP_VEC=1;Source=GeneReviews;SourceDisplay=GeneReviews Internet 2019-11-07;SourceId=NBK535148;VARID=SOX3\tGT:SO:REPCN:REPCI:ADSP:ADFL:ADIR:LC\t0:SPANNING:15:15-15:6:6:0:11.5965" + ], + "amusingmarmoset_rhocall_filter_vep.vcf.gz": [ + "chr1\t14842\tchr1_14842_C_T\tC\tT\t36\t.\tAF=0.5;AQ=36;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1958;GNOMADAF_grpmax=0.2476\tGT:DP:AD:GQ:PL:RNC\t0/1:35:18,17:34:36,0,39:..", + "chr1\t15067\tchr1_15067_CA_C;chr1_15067_CAA_C\tCAA\tC\t24\t.\tAF=0.5;AQ=21;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2297;GNOMADAF_grpmax=0.2657\tGT:DP:AD:GQ:PL:RNC\t0/1:37:0,14:19:39,36,24:..", + "chr1\t16868\tchr1_16868_C_CT;chr1_16868_CT_C\tC\tCT\t24\t.\tAF=0.5;AQ=24;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.017463;GNOMADAF_grpmax=0.0443\tGT:DP:AD:GQ:PL:RNC\t1/0:38:1,24:21:42,35,24:..", + "chr1\t16894\tchr1_16894_T_G\tT\tG\t43\t.\tAF=0.5;AQ=43;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2208;GNOMADAF_grpmax=0.2633\tGT:DP:AD:GQ:PL:RNC\t0/1:42:17,25:43:43,0,50:..", + "chr1\t17329\tchr1_17329_C_T\tC\tT\t42\t.\tAF=0.5;AQ=42;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2074;GNOMADAF_grpmax=0.2638\tGT:DP:AD:GQ:PL:RNC\t0/1:33:14,19:42:42,0,53:..", + "chr1\t18378\tchr1_18378_G_C\tG\tC\t44\t.\tAF=0.5;AQ=44;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2076;GNOMADAF_grpmax=0.2638\tGT:DP:AD:GQ:PL:RNC\t0/1:39:17,22:44:44,0,53:..", + "chr1\t21213\tchr1_21213_C_T\tC\tT\t41\t.\tAF=0.5;AQ=41;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1965;GNOMADAF_grpmax=0.2477\tGT:DP:AD:GQ:PL:RNC\t0/1:48:22,26:41:41,0,53:..", + "chr1\t22432\tchr1_22432_C_CT\tC\tCT\t39\t.\tAF=0.5;AQ=39;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2115;GNOMADAF_grpmax=0.2677\tGT:DP:AD:GQ:PL:RNC\t0/1:38:16,21:37:39,0,40:..", + "chr1\t23232\tchr1_23232_G_A\tG\tA\t41\t.\tAF=0.5;AQ=41;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1961;GNOMADAF_grpmax=0.2476\tGT:DP:AD:GQ:PL:RNC\t0/1:40:21,19:41:41,0,53:..", + "chr1\t24203\tchr1_24203_C_T\tC\tT\t33\t.\tAF=0.5;AQ=33;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0283;GNOMADAF_grpmax=0.0402\tGT:DP:AD:GQ:PL:RNC\t0/1:30:16,14:33:33,0,42:..", + "chr1\t30122\tchr1_30122_C_CT;chr1_30122_C_CTT\tC\tCTT\t23\t.\tAF=0.5;AQ=22;CSQ=TT|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.011286;GNOMADAF_grpmax=0.0258\tGT:DP:AD:GQ:PL:RNC\t0/1:44:1,16:19:36,30,23:..", + "chr1\t30881\tchr1_30881_G_A\tG\tA\t43\t.\tAF=0.5;AQ=43;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2359;GNOMADAF_grpmax=0.261\tGT:DP:AD:GQ:PL:RNC\t0/1:40:18,22:43:43,0,56:..", + "chr1\t32617\tchr1_32617_ATGT_A\tATGT\tA\t24\t.\tAF=0.5;AQ=24;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2664;GNOMADAF_grpmax=0.3221\tGT:DP:AD:GQ:PL:RNC\t0/1:20:6,13:22:24,0,24:..", + "chr1\t32796\tchr1_32796_A_G\tA\tG\t34\t.\tAF=0.5;AQ=34;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2363;GNOMADAF_grpmax=0.2657\tGT:DP:AD:GQ:PL:RNC\t0/1:31:16,14:35:34,0,53:..", + "chr1\t3817\tchr1_3817_A_G\tA\tG\t42\t.\tAF=0.5;AQ=42;CSQ=G|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||3412|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||,G|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||3422|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2116;GNOMADAF_grpmax=0.2668\tGT:DP:AD:GQ:PL:RNC\t0/1:50:24,26:42:42,0,56:..", + "chr1\t3942\tchr1_3942_T_C\tT\tC\t35\t.\tAF=0.5;AQ=35;CSQ=C|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||3537|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||,C|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||3547|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2115;GNOMADAF_grpmax=0.2668\tGT:DP:AD:GQ:PL:RNC\t0/1:45:28,17:36:35,0,54:..", + "chr1\t4460\tchr1_4460_G_A\tG\tA\t44\t.\tAF=0.5;AQ=44;CSQ=A|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||4055|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||,A|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||4065|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2115;GNOMADAF_grpmax=0.2668\tGT:DP:AD:GQ:PL:RNC\t0/1:34:11,23:43:44,0,48:..", + "chr1\t4717\tchr1_4717_CCAAAG_C\tCCAAAG\tC\t10\t.\tAF=1;AQ=10;CSQ=-|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||4313|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||,-|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||4323|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:35:9,26:10:10,21,0:..", + "chr1\t4724\tchr1_4724_GC_G\tGC\tG\t2\t.\tAF=1;AQ=2;CSQ=-|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||4320|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||,-|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||4330|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:36:10,25:5:2,18,0:..", + "chr1\t5390\tchr1_5390_G_GT;chr1_5390_G_GTGTGTGTGT\tG\tGTGTGTGTGT\t20\t.\tAF=0.5;AQ=20;CSQ=TGTGTGTGT|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||4985|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||,TGTGTGTGT|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||4995|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0068456;GNOMADAF_grpmax=0.0093608\tGT:DP:AD:GQ:PL:RNC\t0/1:44:1,33:15:20,22,22:..", + "chr1\t5918\tchr1_5918_C_T\tC\tT\t40\t.\tAF=0.5;AQ=40;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.178;GNOMADAF_grpmax=0.2519\tGT:DP:AD:GQ:PL:RNC\t0/1:35:15,20:40:40,0,51:..", + "chr1\t63\tchr1_63_C_T\tC\tT\t36\t.\tAF=0.5;AQ=36;CSQ=T|downstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||282|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01|-15|5|32|40|0.00|0.00|0.00|0.00|EVI5|,T|downstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||282|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01|-15|5|32|40|0.00|0.00|0.00|0.00|EVI5|;FOUND_IN=deepvariant;GNOMADAF=0.2072;GNOMADAF_grpmax=0.2618\tGT:DP:AD:GQ:PL:RNC\t0/1:36:19,17:36:36,0,55:..", + "chr1\t8216\tchr1_8216_CT_C\tCT\tC\t4\t.\tAF=0.5;AQ=4;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:29:19,3:5:4,0,7:..", + "chr12\t10044\tchr12_10044_T_TA\tT\tTA\t39\t.\tAF=0.5;AQ=39;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-5508_1072-5507insT|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-19|-16|31|-37|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-5508_461-5507insT|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-19|-16|31|-37|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-5508_461-5507insT|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-19|-16|31|-37|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.4564;GNOMADAF_grpmax=0.6543\tGT:DP:AD:GQ:PL:RNC\t0/1:46:20,26:37:39,0,39:..", + "chr12\t11358\tchr12_11358_A_G\tA\tG\t37\t.\tAF=0.5;AQ=37;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-6821T>C|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|-36|-13|-3|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-6821T>C|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|-36|-13|-3|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-6821T>C|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|-36|-13|-3|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.3003;GNOMADAF_grpmax=0.4903\tGT:DP:AD:GQ:PL:RNC\t0/1:39:23,16:37:37,0,55:..", + "chr12\t12565\tchr12_12565_CA_C\tCA\tC\t35\t.\tAF=0.5;AQ=35;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+5793del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-4|-8|-29|2|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-8029del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-4|-8|-29|2|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-8029del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-4|-8|-29|2|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1869;GNOMADAF_grpmax=0.221\tGT:DP:AD:GQ:PL:RNC\t0/1:35:18,16:35:35,0,43:..", + "chr12\t12733\tchr12_12733_G_A\tG\tA\t42\t.\tAF=0.5;AQ=42;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+5626C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|17|45|17|-8|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-8196C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|17|45|17|-8|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-8196C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|17|45|17|-8|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.195;GNOMADAF_grpmax=0.2229\tGT:DP:AD:GQ:PL:RNC\t0/1:37:17,20:42:42,0,53:..", + "chr12\t14142\tchr12_14142_CAACA_C\tCAACA\tC\t24\t.\tAF=0.5;AQ=24;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+4213_1071+4216del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-9|-33|-9|-33|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-9609_461-9606del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-9|-33|-9|-33|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-9609_461-9606del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-9|-33|-9|-33|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.4282;GNOMADAF_grpmax=0.6278\tGT:DP:AD:GQ:PL:RNC\t0/1:34:14,20:22:24,0,24:..", + "chr12\t14559\tchr12_14559_C_T\tC\tT\t39\t.\tAF=0.5;AQ=39;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+3800G>A|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|2|-2|40|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-10022G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|2|-2|40|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-10022G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|2|-2|40|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1781;GNOMADAF_grpmax=0.2083\tGT:DP:AD:GQ:PL:RNC\t0/1:51:25,26:39:39,0,52:..", + "chr12\t15123\tchr12_15123_A_G\tA\tG\t39\t.\tAF=0.5;AQ=39;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+3236T>C|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|18|-18|-9|24|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-10586T>C|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|18|-18|-9|24|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-10586T>C|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|18|-18|-9|24|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.3082;GNOMADAF_grpmax=0.5581\tGT:DP:AD:GQ:PL:RNC\t0/1:40:20,20:39:39,0,55:..", + "chr12\t15500\tchr12_15500_G_A\tG\tA\t14\t.\tAF=0.5;AQ=14;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||4776|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+2859C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|15|2|-4|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-10963C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|15|2|-4|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-10963C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|15|2|-4|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:12:10,2:14:14,0,24:..", + "chr12\t1598\tchr12_1598_G_A\tG\tA\t39\t.\tAF=0.5;AQ=39;CSQ=A|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||1947|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-41|24|2|-12|0.00|0.00|0.00|0.00|RILPL1|,A|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||1947|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-41|24|2|-12|0.00|0.00|0.00|0.00|RILPL1|,A|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||1947|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-41|24|2|-12|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2182;GNOMADAF_grpmax=0.2668\tGT:DP:AD:GQ:PL:RNC\t0/1:33:18,15:39:39,0,56:..", + "chr12\t16686\tchr12_16686_GGT_G\tGGT\tG\t22\t.\tAF=0.5;AQ=22;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||3588|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+1671_1071+1672del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-47|21|-33|-40|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+11808_460+11809del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-47|21|-33|-40|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+11808_460+11809del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-47|21|-33|-40|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1335;GNOMADAF_grpmax=0.1786\tGT:DP:AD:GQ:PL:RNC\t0/1:20:12,7:20:22,0,24:..", + "chr12\t16999\tchr12_16999_G_T\tG\tT\t15\t.\tAF=0.5;AQ=15;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||3277|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+1360C>A|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|-9|3|-34|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+11497C>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|-9|3|-34|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+11497C>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|-9|3|-34|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.0061784;GNOMADAF_grpmax=0.0094871\tGT:DP:AD:GQ:PL:RNC\t0/1:26:18,8:15:15,0,23:..", + "chr12\t17074\tchr12_17074_CTGTG_C\tCTGTG\tC\t5\t.\tAF=0.5;AQ=5;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||3198|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+1281_1071+1284del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|8|24|48|47|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+11418_460+11421del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|8|24|48|47|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+11418_460+11421del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|8|24|48|47|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.236;GNOMADAF_grpmax=0.2717\tGT:DP:AD:GQ:PL:RNC\t0/1:28:21,5:7:5,0,22:..", + "chr12\t17915\tchr12_17915_G_GTC\tG\tGTC\t23\t.\tAF=0.5;AQ=23;CSQ=TC|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||2360|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,TC|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+443_1071+444insGA|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,TC|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+10580_460+10581insGA|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,TC|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+10580_460+10581insGA|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2827;GNOMADAF_grpmax=0.5294\tGT:DP:AD:GQ:PL:RNC\t0/1:23:10,10:21:23,0,24:..", + "chr12\t18224\tchr12_18224_T_G\tT\tG\t40\t.\tAF=0.5;AQ=40;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||2052|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+135A>C|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|1|16|-3|8|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+10272A>C|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|1|16|-3|8|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+10272A>C|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|1|16|-3|8|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1701;GNOMADAF_grpmax=0.2079\tGT:DP:AD:GQ:PL:RNC\t0/1:31:18,13:40:40,0,58:..", + "chr12\t1934\tchr12_1934_C_T\tC\tT\t38\t.\tAF=0.5;AQ=38;CSQ=T|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||1611|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-13|-49|-13|-49|0.00|0.00|0.00|0.00|RILPL1|,T|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||1611|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-13|-49|-13|-49|0.00|0.00|0.00|0.00|RILPL1|,T|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||1611|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-13|-49|-13|-49|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1975;GNOMADAF_grpmax=0.2116\tGT:DP:AD:GQ:PL:RNC\t0/1:28:15,13:39:38,0,54:..", + "chr12\t19440\tchr12_19440_A_T\tA\tT\t36\t.\tAF=0.5;AQ=36;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||836|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||4951|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+9056T>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|-24|-2|23|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+9056T>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|-24|-2|23|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||11|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|-24|-2|23|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2953;GNOMADAF_grpmax=0.4844\tGT:DP:AD:GQ:PL:RNC\t0/1:30:14,15:37:36,0,49:..", + "chr12\t21105\tchr12_21105_G_A\tG\tA\t47\t.\tAF=0.5;AQ=47;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||3286|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+7391C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-7|-46|47|-5|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+7391C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-7|-46|47|-5|0.00|0.00|0.00|0.00|RILPL1|,A|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||1676|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-7|-46|47|-5|0.00|0.00|0.00|0.00|RILPL1|,A|upstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||591|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1733;GNOMADAF_grpmax=0.2097\tGT:DP:AD:GQ:PL:RNC\t0/1:34:15,19:47:47,0,57:..", 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"chr12\t22205\tchr12_22205_G_A\tG\tA\t38\t.\tAF=0.5;AQ=38;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||2186|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+6291C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-32|40|3|-30|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+6291C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-32|40|3|-30|0.00|0.00|0.00|0.00|RILPL1|,A|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||2776|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-32|40|3|-30|0.00|0.00|0.00|0.00|RILPL1|,A|upstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||1691|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1672;GNOMADAF_grpmax=0.2104\tGT:DP:AD:GQ:PL:RNC\t0/1:40:22,18:38:38,0,55:..", 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"chr12\t22425\tchr12_22425_GTTT_G\tGTTT\tG\t16\t.\tAF=0.5;AQ=16;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||1963|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+6068_460+6070del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|1|-44|10|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+6068_460+6070del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|1|-44|10|0.00|0.00|0.00|0.00|RILPL1|,-|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||2997|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|1|-44|10|0.00|0.00|0.00|0.00|RILPL1|,-|upstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||1912|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3065;GNOMADAF_grpmax=0.378\tGT:DP:AD:GQ:PL:RNC\t./1:35:.,15:.:0,0,0:O.", 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"chr12\t23043\tchr12_23043_A_G\tA\tG\t33\t.\tAF=0.5;AQ=33;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||1348|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+5453T>C|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-44|-13|-44|-4|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+5453T>C|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-44|-13|-44|-4|0.00|0.00|0.00|0.00|RILPL1|,G|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||3614|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-44|-13|-44|-4|0.00|0.00|0.00|0.00|RILPL1|,G|upstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||2529|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1818;GNOMADAF_grpmax=0.21\tGT:DP:AD:GQ:PL:RNC\t0/1:55:34,21:33:33,0,52:..", 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"chr12\t23216\tchr12_23216_A_T\tA\tT\t40\t.\tAF=0.5;AQ=40;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||1175|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+5280T>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|28|-14|27|29|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+5280T>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|28|-14|27|29|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||3787|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|28|-14|27|29|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||2702|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1747;GNOMADAF_grpmax=0.2115\tGT:DP:AD:GQ:PL:RNC\t0/1:45:23,22:40:40,0,52:..", 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"chr12\t23950\tchr12_23950_C_T\tC\tT\t34\t.\tAF=0.5;AQ=34;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||441|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+4546G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-3|30|31|-17|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+4546G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-3|30|31|-17|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||4521|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-3|30|31|-17|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||3436|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1396;GNOMADAF_grpmax=0.1556\tGT:DP:AD:GQ:PL:RNC\t0/1:38:23,15:34:34,0,53:..", + "chr12\t25929\tchr12_25929_G_T\tG\tT\t39\t.\tAF=0.5;AQ=39;CSQ=T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+2567C>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|12|4|12|0|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+2567C>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|12|4|12|0|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||1072|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1608;GNOMADAF_grpmax=0.1887\tGT:DP:AD:GQ:PL:RNC\t0/1:52:20,32:38:39,0,46:..", + "chr12\t263\tchr12_263_C_T\tC\tT\t41\t.\tAF=0.5;AQ=41;CSQ=T|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||3282|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-45|49|-10|50|0.00|0.00|0.00|0.00|RILPL1|,T|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3282|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-45|49|-10|50|0.00|0.00|0.00|0.00|RILPL1|,T|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3282|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-45|49|-10|50|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1842;GNOMADAF_grpmax=0.2116\tGT:DP:AD:GQ:PL:RNC\t0/1:49:23,26:41:41,0,51:..", + "chr12\t26723\tchr12_26723_C_T\tC\tT\t30\t.\tAF=0.5;AQ=30;CSQ=T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+1773G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|1|3|41|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+1773G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|1|3|41|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||1866|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2026;GNOMADAF_grpmax=0.3412\tGT:DP:AD:GQ:PL:RNC\t0/1:28:13,15:30:30,0,40:..", + "chr12\t26732\tchr12_26732_A_G\tA\tG\t25\t.\tAF=0.5;AQ=25;CSQ=G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+1764T>C|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-1|32|-4|50|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+1764T>C|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-1|32|-4|50|0.00|0.00|0.00|0.00|RILPL1|,G|upstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||1875|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:30:16,14:25:25,0,36:..", + "chr12\t28913\tchr12_28913_C_T\tC\tT\t40\t.\tAF=0.5;AQ=40;CSQ=T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.310-267G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-32|-8|-2|-46|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.310-267G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-32|-8|-2|-46|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||4056|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1702;GNOMADAF_grpmax=0.205\tGT:DP:AD:GQ:PL:RNC\t0/1:41:22,19:40:40,0,53:..", + "chr12\t30352\tchr12_30352_G_C\tG\tC\t27\t.\tAF=0.5;AQ=27;CSQ=C|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.310-1706C>G|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|15|-19|20|0.00|0.00|0.00|0.00|RILPL1|,C|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.310-1706C>G|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|15|-19|20|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1733;GNOMADAF_grpmax=0.2046\tGT:DP:AD:GQ:PL:RNC\t0/1:34:23,10:28:27,0,52:..", + "chr12\t30701\tchr12_30701_C_CAAAAAAA\tC\tCAAAAAAA\t8\t.\tAF=0.5;AQ=8;CSQ=AAAAAAA|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.310-2062_310-2056dup|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,AAAAAAA|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.310-2062_310-2056dup|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:38:28,4:9:8,0,23:..", + "chr12\t30921\tchr12_30921_AAAAC_A\tAAAAC\tA\t34\t.\tAF=0.5;AQ=34;CSQ=-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.310-2279_310-2276del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-16|-25|12|37|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.310-2279_310-2276del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-16|-25|12|37|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2515;GNOMADAF_grpmax=0.3512\tGT:DP:AD:GQ:PL:RNC\t0/1:34:14,20:33:34,0,37:..", + "chr12\t31707\tchr12_31707_G_A\tG\tA\t41\t.\tAF=0.5;AQ=41;CSQ=A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.310-3061C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-16|12|13|-34|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.310-3061C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-16|12|13|-34|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1725;GNOMADAF_grpmax=0.2048\tGT:DP:AD:GQ:PL:RNC\t0/1:43:18,25:41:41,0,50:..", + "chr12\t32121\tchr12_32121_T_C\tT\tC\t41\t.\tAF=0.5;AQ=41;CSQ=C|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.310-3475A>G|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|43|-2|-49|-2|0.00|0.00|0.00|0.00|RILPL1|,C|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.310-3475A>G|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|43|-2|-49|-2|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1729;GNOMADAF_grpmax=0.2052\tGT:DP:AD:GQ:PL:RNC\t0/1:41:16,25:41:41,0,49:..", + "chr12\t32701\tchr12_32701_A_T\tA\tT\t29\t.\tAF=0.5;AQ=29;CSQ=T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.310-4055T>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-41|43|15|5|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.310-4055T>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-41|43|15|5|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1727;GNOMADAF_grpmax=0.205\tGT:DP:AD:GQ:PL:RNC\t0/1:41:24,17:29:29,0,50:..", + "chr12\t3340\tchr12_3340_CCAGG_C\tCCAGG\tC\t32\t.\tAF=0.5;AQ=32;CSQ=-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||201|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|42|-5|42|50|0.00|0.00|0.00|0.00|RILPL1|,-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||201|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|42|-5|42|50|0.00|0.00|0.00|0.00|RILPL1|,-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||201|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|42|-5|42|50|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.4487;GNOMADAF_grpmax=0.6326\tGT:DP:AD:GQ:PL:RNC\t0/1:47:22,25:31:32,0,36:..", + "chr12\t33424\tchr12_33424_G_A\tG\tA\t34\t.\tAF=0.5;AQ=34;CSQ=A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+4751C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-39|-36|38|12|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+4751C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-39|-36|38|12|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1954;GNOMADAF_grpmax=0.2258\tGT:DP:AD:GQ:PL:RNC\t0/1:34:15,18:33:34,0,39:..", + "chr12\t33553\tchr12_33553_G_C\tG\tC\t33\t.\tAF=0.5;AQ=33;CSQ=C|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+4622C>G|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|24|38|37|-48|0.00|0.00|0.00|0.00|RILPL1|,C|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+4622C>G|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|24|38|37|-48|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1734;GNOMADAF_grpmax=0.2055\tGT:DP:AD:GQ:PL:RNC\t0/1:34:12,22:33:33,0,40:..", + "chr12\t33703\tchr12_33703_A_G\tA\tG\t31\t.\tAF=0.5;AQ=31;CSQ=G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+4472T>C|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|-11|0|-42|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+4472T>C|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|-11|0|-42|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1728;GNOMADAF_grpmax=0.205\tGT:DP:AD:GQ:PL:RNC\t0/1:29:16,13:32:31,0,50:..", + "chr12\t34874\tchr12_34874_C_CA;chr12_34874_C_CAAAA\tC\tCA\t24\t.\tAF=0.5;AQ=24;CSQ=A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+3300dup|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-8|-4|1|-8|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+3300dup|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-8|-4|1|-8|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1885;GNOMADAF_grpmax=0.213\tGT:DP:AD:GQ:PL:RNC\t1/0:31:1,16:20:34,29,24:..", + "chr12\t36116\tchr12_36116_GA_G\tGA\tG\t29\t.\tAF=0.5;AQ=29;CSQ=-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+2058del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-18|-8|-27|-29|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+2058del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-18|-8|-27|-29|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1902;GNOMADAF_grpmax=0.2123\tGT:DP:AD:GQ:PL:RNC\t0/1:41:23,17:30:29,0,64:..", + "chr12\t37218\tchr12_37218_C_T\tC\tT\t39\t.\tAF=0.5;AQ=39;CSQ=T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+957G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|0|-25|39|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+957G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|0|-25|39|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||4192|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0353;GNOMADAF_grpmax=0.0644\tGT:DP:AD:GQ:PL:RNC\t0/1:36:21,15:40:39,0,63:..", + "chr12\t376\tchr12_376_AT_A\tAT\tA\t15\t.\tAF=0.5;AQ=15;CSQ=-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||3168|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-46|40|-34|32|0.00|0.00|0.00|0.00|RILPL1|,-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3168|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-46|40|-34|32|0.00|0.00|0.00|0.00|RILPL1|,-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3168|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-46|40|-34|32|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2024;GNOMADAF_grpmax=0.2348\tGT:DP:AD:GQ:PL:RNC\t0/1:34:20,12:15:15,0,24:..", + "chr12\t37704\tchr12_37704_T_TGGGG\tT\tTGGGG\t16\t.\tAF=0.5;AQ=16;CSQ=GGGG|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+467_309+470dup|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,GGGG|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+467_309+470dup|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,GGGG|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||3705|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:30:26,4:16:16,0,24:..", + "chr12\t37708\tchr12_37708_G_A\tG\tA\t29\t.\tAF=0.5;AQ=29;CSQ=A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+467C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|-6|-26|30|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+467C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|-6|-26|30|0.00|0.00|0.00|0.00|RILPL1|,A|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||3702|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2315;GNOMADAF_grpmax=0.3095\tGT:DP:AD:GQ:PL:RNC\t0/1:29:10,19:27:29,0,30:..", + "chr12\t37755\tchr12_37755_T_TG\tT\tTG\t36\t.\tAF=0.5;AQ=36;CSQ=G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+419dup|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-19|33|6|-18|0.00|0.03|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+419dup|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-19|33|6|-18|0.00|0.03|0.00|0.00|RILPL1|,G|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||3654|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2543;GNOMADAF_grpmax=0.4108\tGT:DP:AD:GQ:PL:RNC\t0/1:35:16,19:35:36,0,43:..", + "chr12\t37856\tchr12_37856_C_T\tC\tT\t41\t.\tAF=0.5;AQ=41;CSQ=T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+319G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|0|-40|-34|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+319G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|0|-40|-34|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||3554|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0030044;GNOMADAF_grpmax=0.013935\tGT:DP:AD:GQ:PL:RNC\t0/1:40:20,20:41:41,0,55:..", + "chr12\t38304\tchr12_38304_G_C\tG\tC\t43\t.\tAF=0.5;AQ=43;CSQ=C|synonymous_variant|LOW|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|1/4||ENST00000376874.9:c.180C>G|ENSP00000366070.1:p.Val60%3D|417|180|60|V|gtC/gtG|||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|47|11|12|-15|0.00|0.00|0.00|0.00|RILPL1|,C|synonymous_variant|LOW|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|1/4||ENST00000636882.1:c.180C>G|ENSP00000490668.1:p.Val60%3D|416|180|60|V|gtC/gtG|||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|47|11|12|-15|0.00|0.00|0.00|0.00|RILPL1|,C|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||3106|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1672;GNOMADAF_grpmax=0.1984\tGT:DP:AD:GQ:PL:RNC\t0/1:27:12,15:43:43,0,53:..", + "chr12\t38598\tchr12_38598_G_C\tG\tC\t43\t.\tAF=0.5;AQ=43;CSQ=C|5_prime_UTR_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|1/4||ENST00000376874.9:c.-115C>G||123|||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-7|-27|0|22|0.00|0.00|0.00|0.00|RILPL1|,C|5_prime_UTR_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|1/4||ENST00000636882.1:c.-115C>G||122|||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-7|-27|0|22|0.00|0.00|0.00|0.00|RILPL1|,C|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||2812|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.165;GNOMADAF_grpmax=0.1984\tGT:DP:AD:GQ:PL:RNC\t0/1:23:9,14:42:43,0,48:..", + "chr12\t39509\tchr12_39509_G_T\tG\tT\t31\t.\tAF=0.5;AQ=31;CSQ=T|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||1901|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||789|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||790|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2403;GNOMADAF_grpmax=0.3455\tGT:DP:AD:GQ:PL:RNC\t0/1:28:17,11:31:31,0,54:..", + "chr12\t40484\tchr12_40484_GA_G\tGA\tG\t24\t.\tAF=0.5;AQ=24;CSQ=-|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||925|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||1765|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||1766|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2387;GNOMADAF_grpmax=0.3525\tGT:DP:AD:GQ:PL:RNC\t0/1:41:14,26:22:24,0,24:..", + "chr12\t40504\tchr12_40504_A_T\tA\tT\t33\t.\tAF=0.5;AQ=33;CSQ=T|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||906|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||1784|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||1785|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2333;GNOMADAF_grpmax=0.3358\tGT:DP:AD:GQ:PL:RNC\t0/1:34:11,22:31:33,0,35:..", + "chr12\t41135\tchr12_41135_T_A\tT\tA\t41\t.\tAF=0.5;AQ=41;CSQ=A|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||275|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||2415|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,A|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||2416|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1746;GNOMADAF_grpmax=0.2759\tGT:DP:AD:GQ:PL:RNC\t0/1:48:24,23:41:41,0,55:..", + "chr12\t41162\tchr12_41162_C_T\tC\tT\t31\t.\tAF=0.5;AQ=31;CSQ=T|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||248|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||2442|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||2443|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2405;GNOMADAF_grpmax=0.3463\tGT:DP:AD:GQ:PL:RNC\t0/1:59:28,31:31:31,0,43:..", + "chr12\t42009\tchr12_42009_C_T\tC\tT\t4\t.\tAF=0.5;AQ=4;CSQ=T|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||474|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3289|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3290|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0401;GNOMADAF_grpmax=0.0524\tGT:DP:AD:GQ:PL:RNC\t0/1:21:9,9:6:4,0,17:..", + "chr12\t42022\tchr12_42022_T_C\tT\tC\t26\t.\tAF=0.5;AQ=26;CSQ=C|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||487|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3302|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3303|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0482;GNOMADAF_grpmax=0.0769\tGT:DP:AD:GQ:PL:RNC\t0/1:15:6,9:25:26,0,30:..", + "chr12\t42511\tchr12_42511_A_AAC\tA\tAAC\t23\t.\tAF=0.5;AQ=23;CSQ=AC|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||976|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,AC|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3791|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,AC|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3792|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2459;GNOMADAF_grpmax=0.3754\tGT:DP:AD:GQ:PL:RNC\t0/1:35:12,23:21:23,0,24:..", + "chr12\t42521\tchr12_42521_AAAAC_A\tAAAAC\tA\t24\t.\tAF=0.5;AQ=24;CSQ=-|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||987|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3802|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3803|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2387;GNOMADAF_grpmax=0.3421\tGT:DP:AD:GQ:PL:RNC\t0/1:34:8,26:22:24,0,24:..", + "chr12\t42697\tchr12_42697_C_A\tC\tA\t43\t.\tAF=0.5;AQ=43;CSQ=A|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||1162|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3977|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,A|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3978|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.24;GNOMADAF_grpmax=0.3455\tGT:DP:AD:GQ:PL:RNC\t0/1:39:17,22:43:43,0,55:..", + "chr12\t43172\tchr12_43172_T_TTCC\tT\tTTCC\t15\t.\tAF=0.5;AQ=15;CSQ=TCC|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||1637|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,TCC|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||4452|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,TCC|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||4453|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1329;GNOMADAF_grpmax=0.183\tGT:DP:AD:GQ:PL:RNC\t0/1:38:35,3:15:15,0,24:..", + "chr12\t43184\tchr12_43184_C_T\tC\tT\t14\t.\tAF=0.5;AQ=14;CSQ=T|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||1649|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||4464|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||4465|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:35:23,9:14:14,0,24:..", + "chr12\t43212\tchr12_43212_T_G\tT\tG\t44\t.\tAF=0.5;AQ=44;CSQ=G|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||1677|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||4492|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,G|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||4493|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3656;GNOMADAF_grpmax=0.4981\tGT:DP:AD:GQ:PL:RNC\t0/1:27:14,13:44:44,0,61:..", + "chr12\t4395\tchr12_4395_G_A\tG\tA\t41\t.\tAF=0.5;AQ=41;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||2/2|ENST00000340724.6:n.1190+24C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|-17|24|-17|0.01|0.00|0.01|0.19|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||3/3|ENST00000376874.9:c.579+24C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|-17|24|-17|0.01|0.00|0.01|0.19|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||3/3|ENST00000636882.1:c.579+24C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|-17|24|-17|0.01|0.00|0.01|0.19|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.4582;GNOMADAF_grpmax=0.661\tGT:DP:AD:GQ:PL:RNC\t0/1:35:17,18:41:41,0,52:..", + "chr12\t44005\tchr12_44005_C_CA\tC\tCA\t24\t.\tAF=0.5;AQ=24;CSQ=A|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||2470|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2632;GNOMADAF_grpmax=0.3661\tGT:DP:AD:GQ:PL:RNC\t0/1:32:19,13:22:24,0,24:..", + "chr12\t44125\tchr12_44125_C_G\tC\tG\t41\t.\tAF=0.5;AQ=41;CSQ=G|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||2590|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1673;GNOMADAF_grpmax=0.198\tGT:DP:AD:GQ:PL:RNC\t0/1:36:18,18:41:41,0,54:..", + "chr12\t44180\tchr12_44180_GA_G\tGA\tG\t37\t.\tAF=0.5;AQ=37;CSQ=-|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||2646|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=2.6294e-05\tGT:DP:AD:GQ:PL:RNC\t0/1:37:15,22:35:37,0,38:..", + "chr12\t44386\tchr12_44386_C_T\tC\tT\t39\t.\tAF=0.5;AQ=39;CSQ=T|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||2851|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2402;GNOMADAF_grpmax=0.3459\tGT:DP:AD:GQ:PL:RNC\t0/1:51:25,26:39:39,0,51:..", + "chr12\t44515\tchr12_44515_A_T\tA\tT\t39\t.\tAF=0.5;AQ=39;CSQ=T|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||2980|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1704;GNOMADAF_grpmax=0.1983\tGT:DP:AD:GQ:PL:RNC\t0/1:37:21,15:40:39,0,58:..", + "chr12\t44805\tchr12_44805_CT_C\tCT\tC\t16\t.\tAF=0.5;AQ=16;CSQ=-|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||3271|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:38:24,9:15:16,0,23:..", + "chr12\t5279\tchr12_5279_CT_C\tCT\tC\t17\t.\tAF=0.5;AQ=17;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-743del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|50|38|-38|38|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-743del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|50|38|-38|38|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-743del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|50|38|-38|38|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1919;GNOMADAF_grpmax=0.2669\tGT:DP:AD:GQ:PL:RNC\t0/1:19:10,8:16:17,0,22:..", + "chr12\t6288\tchr12_6288_T_A\tT\tA\t41\t.\tAF=0.5;AQ=41;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-1751A>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-18|-9|14|9|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-1751A>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-18|-9|14|9|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-1751A>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-18|-9|14|9|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2161;GNOMADAF_grpmax=0.2302\tGT:DP:AD:GQ:PL:RNC\t0/1:39:18,21:41:41,0,53:..", + "chr12\t6444\tchr12_6444_A_AAAAC\tA\tAAAAC\t34\t.\tAF=0.5;AQ=34;CSQ=AAAC|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-1911_1072-1908dup|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,AAAC|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-1911_461-1908dup|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,AAAC|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-1911_461-1908dup|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2838;GNOMADAF_grpmax=0.4492\tGT:DP:AD:GQ:PL:RNC\t0/1:41:14,26:29:34,0,30:..", + "chr12\t678\tchr12_678_GTT_G\tGTT\tG\t23\t.\tAF=0.5;AQ=23;CSQ=-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||2865|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-39|30|-10|10|0.00|0.00|0.00|0.00|RILPL1|,-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||2865|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-39|30|-10|10|0.00|0.00|0.00|0.00|RILPL1|,-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||2865|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-39|30|-10|10|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1718;GNOMADAF_grpmax=0.1972\tGT:DP:AD:GQ:PL:RNC\t0/1:24:18,6:21:23,0,24:..", + "chr12\t7081\tchr12_7081_CA_C\tCA\tC\t23\t.\tAF=0.5;AQ=23;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-2545del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|-4|-29|-42|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-2545del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|-4|-29|-42|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-2545del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|-4|-29|-42|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.3663;GNOMADAF_grpmax=0.4955\tGT:DP:AD:GQ:PL:RNC\t0/1:40:19,20:21:23,0,24:..", + "chr12\t8264\tchr12_8264_C_T\tC\tT\t22\t.\tAF=0.5;AQ=22;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-3727G>A|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|-29|14|-29|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-3727G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|-29|14|-29|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-3727G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|-29|14|-29|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2947;GNOMADAF_grpmax=0.4748\tGT:DP:AD:GQ:PL:RNC\t0/1:16:11,5:20:22,0,24:..", + "chr12\t8494\tchr12_8494_G_A\tG\tA\t34\t.\tAF=0.5;AQ=34;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-3957C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|4|-1|4|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-3957C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|4|-1|4|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-3957C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|4|-1|4|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2207;GNOMADAF_grpmax=0.2324\tGT:DP:AD:GQ:PL:RNC\t0/1:30:16,14:34:34,0,53:..", + "chr12\t8889\tchr12_8889_C_T\tC\tT\t39\t.\tAF=0.5;AQ=39;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-4352G>A|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-13|-1|4|-1|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-4352G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-13|-1|4|-1|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-4352G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-13|-1|4|-1|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.294;GNOMADAF_grpmax=0.4743\tGT:DP:AD:GQ:PL:RNC\t0/1:38:20,18:40:39,0,54:..", + "chr12\t9001\tchr12_9001_CAA_C\tCAA\tC\t24\t.\tAF=0.5;AQ=24;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-4466_1072-4465del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|24|-8|-3|45|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-4466_461-4465del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|24|-8|-3|45|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-4466_461-4465del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|24|-8|-3|45|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2329;GNOMADAF_grpmax=0.2875\tGT:DP:AD:GQ:PL:RNC\t0/1:43:19,24:22:24,0,24:..", + "chr12\t9704\tchr12_9704_G_A\tG\tA\t41\t.\tAF=0.5;AQ=41;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-5167C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-49|4|18|14|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-5167C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-49|4|18|14|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-5167C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-49|4|18|14|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2904;GNOMADAF_grpmax=0.4582\tGT:DP:AD:GQ:PL:RNC\t0/1:49:26,23:41:41,0,54:..", + "chr12\t9915\tchr12_9915_A_G\tA\tG\t39\t.\tAF=0.5;AQ=39;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-5378T>C|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-33|-16|-1|-40|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-5378T>C|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-33|-16|-1|-40|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-5378T>C|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-33|-16|-1|-40|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2989;GNOMADAF_grpmax=0.4882\tGT:DP:AD:GQ:PL:RNC\t0/1:46:24,22:39:39,0,54:..", + "chr16\t11100\tchr16_11100_G_A\tG\tA\t38\t.\tAF=0.5;AQ=38;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1444;GNOMADAF_grpmax=0.1918\tGT:DP:AD:GQ:PL:RNC\t0/1:42:19,23:39:38,0,53:..", + "chr16\t12420\tchr16_12420_A_G\tA\tG\t40\t.\tAF=0.5;AQ=40;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3193;GNOMADAF_grpmax=0.5449\tGT:DP:AD:GQ:PL:RNC\t0/1:34:15,19:40:40,0,53:..", + "chr16\t12558\tchr16_12558_T_TA;chr16_12558_TA_T\tTA\tT\t24\t.\tAF=0.5;AQ=24;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1505;GNOMADAF_grpmax=0.1779\tGT:DP:AD:GQ:PL:RNC\t0/1:33:1,21:20:36,29,24:..", + "chr16\t1377\tchr16_1377_G_C\tG\tC\t34\t.\tAF=0.5;AQ=34;CSQ=C|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||4058|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|-1|-11|-30|-11|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.4335;GNOMADAF_grpmax=0.5428\tGT:DP:AD:GQ:PL:RNC\t0/1:42:16,26:33:34,0,39:..", + "chr16\t1379\tchr16_1379_G_A\tG\tA\t30\t.\tAF=0.5;AQ=30;CSQ=A|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||4056|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|11|-13|42|-13|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.12;GNOMADAF_grpmax=0.3971\tGT:DP:AD:GQ:PL:RNC\t0/1:42:26,16:30:30,0,47:..", + "chr16\t1891\tchr16_1891_G_GA\tG\tGA\t37\t.\tAF=0.5;AQ=37;CSQ=A|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||3543|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|29|36|29|15|0.00|0.00|0.05|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.1487;GNOMADAF_grpmax=0.3757\tGT:DP:AD:GQ:PL:RNC\t0/1:51:24,27:36:37,0,41:..", + "chr16\t2876\tchr16_2876_T_C\tT\tC\t34\t.\tAF=0.5;AQ=34;CSQ=C|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||2559|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|42|-2|-14|36|0.00|0.00|0.02|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.1733;GNOMADAF_grpmax=0.23\tGT:DP:AD:GQ:PL:RNC\t0/1:44:28,16:34:34,0,54:..", + "chr16\t3466\tchr16_3466_G_A\tG\tA\t27\t.\tAF=0.5;AQ=27;CSQ=A|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||1969|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|25|38|25|-12|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.1206;GNOMADAF_grpmax=0.4017\tGT:DP:AD:GQ:PL:RNC\t0/1:51:34,17:28:27,0,50:..", + "chr16\t4802\tchr16_4802_T_C\tT\tC\t39\t.\tAF=0.5;AQ=39;CSQ=C|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||633|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|-36|-2|-42|23|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.5704;GNOMADAF_grpmax=0.6401\tGT:DP:AD:GQ:PL:RNC\t0/1:31:12,19:39:39,0,49:..", + "chr16\t5056\tchr16_5056_G_A\tG\tA\t40\t.\tAF=0.5;AQ=40;CSQ=A|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||379|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|47|-34|22|48|0.01|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.1981;GNOMADAF_grpmax=0.2791\tGT:DP:AD:GQ:PL:RNC\t0/1:28:12,16:41:40,0,52:..", + "chr16\t5093\tchr16_5093_G_A\tG\tA\t37\t.\tAF=0.5;AQ=37;CSQ=A|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||342|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|32|10|33|-15|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.3914;GNOMADAF_grpmax=0.558\tGT:DP:AD:GQ:PL:RNC\t0/1:25:14,11:37:37,0,54:..", + "chr16\t523\tchr16_523_G_A\tG\tA\t30\t.\tAF=0.5;AQ=30;CSQ=A|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||4912|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|-35|9|2|-1|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.2071;GNOMADAF_grpmax=0.3309\tGT:DP:AD:GQ:PL:RNC\t0/1:40:12,25:29:30,0,32:..", + "chr16\t548\tchr16_548_GT_G\tGT\tG\t24\t.\tAF=0.5;AQ=24;CSQ=-|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||4886|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|4|-17|-48|-27|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.3628;GNOMADAF_grpmax=0.3966\tGT:DP:AD:GQ:PL:RNC\t0/1:40:13,24:22:24,0,24:..", + "chr16\t562\tchr16_562_G_C\tG\tC\t23\t.\tAF=0.5;AQ=23;CSQ=C|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||4873|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|42|-30|-40|43|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:40:25,15:21:23,0,23:..", + "chr16\t563\tchr16_563_G_C\tG\tC\t20\t.\tAF=0.5;AQ=20;CSQ=C|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||4872|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|41|-31|42|-31|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.6161;GNOMADAF_grpmax=0.6956\tGT:DP:AD:GQ:PL:RNC\t0/1:39:17,22:20:20,0,27:..", + "chr16\t5962\tchr16_5962_G_A\tG\tA\t23\t.\tAF=0.5;AQ=23;CSQ=A|upstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||1|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:12:7,5:21:23,0,24:..", + "chr16\t6647\tchr16_6647_G_T\tG\tT\t42\t.\tAF=0.5;AQ=42;CSQ=T|upstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||686|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2967;GNOMADAF_grpmax=0.412\tGT:DP:AD:GQ:PL:RNC\t0/1:37:14,23:42:42,0,50:..", + "chr16\t8684\tchr16_8684_T_C\tT\tC\t39\t.\tAF=0.5;AQ=39;CSQ=C|upstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||2723|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4841;GNOMADAF_grpmax=0.5265\tGT:DP:AD:GQ:PL:RNC\t0/1:37:19,18:40:39,0,53:..", + "chr20\t10237\tchr20_10237_T_C\tT\tC\t42\t.\tAF=0.5;AQ=42;CSQ=C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|8/8||ENST00000467196.5:c.*406T>C||1163|||||||1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|3_prime_UTR_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|6/6||ENST00000415272.2:c.*846T>C||1505|||||||1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||159|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||159|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2060|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||159|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||1047|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||159|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||306|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||1796|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||159|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2269|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||159|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||779|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2724|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2724|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2724|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||4416|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||1011|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||1018|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||1687|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||1687|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||787|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2724|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||2724|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||197|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3038|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3950|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||1542|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||1226|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||2054|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|missense_variant|MODERATE|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|12/12||ENST00000329276.10:c.1727T>C|ENSP00000370589.1:p.Val576Ala|1756|1727|576|V/A|gTt/gCt|||1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|3/3||ENST00000462630.5:n.702T>C||702|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|6/6||ENST00000466447.5:n.937T>C||937|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|2/2||ENST00000467857.1:n.578T>C||578|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|5/5||ENST00000492135.5:n.986T>C||986|||||||1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|1/1||ENST00000612233.1:n.2824T>C||2824|||||||1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|2/2||ENST00000616692.1:n.2505T>C||2505|||||||1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|;FOUND_IN=deepvariant;GNOMADAF=0.3585;GNOMADAF_grpmax=0.5588\tGT:DP:AD:GQ:PL:RNC\t0/1:44:20,24:42:42,0,55:..", + "chr20\t10925\tchr20_10925_G_T\tG\tT\t42\t.\tAF=0.5;AQ=42;CSQ=T|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||1372|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||359|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||1108|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||1581|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||91|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||531|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||565|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3412|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3412|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||531|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||531|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||531|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||531|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3412|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||1699|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||1706|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||2375|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||2375|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||1475|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||531|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3412|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3412|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||532|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||531|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||885|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3726|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4638|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||2230|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||1914|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||2742|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay||4/5|ENST00000466494.6:c.350-87C>A|||||||||-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay||4/4|ENST00000477689.2:c.*62-87C>A|||||||||-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||6/6|ENST00000488299.5:n.841-87C>A|||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron||3/4|ENST00000492240.5:n.637-87C>A|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||7/7|ENST00000380843.9:c.735-87C>A|||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||7/7|ENST00000380851.9:c.735-402C>A|||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||7/8|ENST00000474315.5:c.735-87C>A|||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|;FOUND_IN=deepvariant;GNOMADAF=0.3147;GNOMADAF_grpmax=0.4142\tGT:DP:AD:GQ:PL:RNC\t0/1:40:16,24:42:42,0,49:..", + "chr20\t11083\tchr20_11083_C_CGCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT\tC\tCGCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT\t18\t.\tAF=0.5;AQ=18;CSQ=GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|3_prime_UTR_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|8/8||ENST00000613370.1:c.*170_*171insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC||964-965|||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||1213|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||200|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||949|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||1422|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||689|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||723|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3570|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3570|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||689|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||689|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||689|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||689|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3570|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||1857|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||1864|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||2533|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||2533|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||1633|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||689|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3570|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3570|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||690|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||689|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||1043|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3884|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4796|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||2388|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||2072|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||2900|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay||4/5|ENST00000466494.6:c.350-246_350-245insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay||4/4|ENST00000477689.2:c.*62-246_*62-245insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||6/6|ENST00000488299.5:n.841-246_841-245insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron||3/4|ENST00000492240.5:n.637-246_637-245insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||7/7|ENST00000380843.9:c.735-246_735-245insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||7/7|ENST00000380851.9:c.734+442_734+443insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||7/8|ENST00000474315.5:c.735-246_735-245insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:52:16,12:18:18,0,25:..", + "chr20\t11161\tchr20_11161_G_A\tG\tA\t39\t.\tAF=0.5;AQ=39;CSQ=A|3_prime_UTR_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|8/8||ENST00000613370.1:c.*93C>T||887|||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||1136|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||123|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||872|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||1345|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||767|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||801|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3648|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3648|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||767|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||767|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||767|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||767|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3648|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||1935|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||1942|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||2611|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||2611|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||1711|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||767|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3648|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3648|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||768|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||767|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||1121|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3962|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4874|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||2466|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||2150|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||2978|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay||4/5|ENST00000466494.6:c.350-323C>T|||||||||-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay||4/4|ENST00000477689.2:c.*62-323C>T|||||||||-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||6/6|ENST00000488299.5:n.841-323C>T|||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron||3/4|ENST00000492240.5:n.637-323C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||7/7|ENST00000380843.9:c.735-323C>T|||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||7/7|ENST00000380851.9:c.734+365C>T|||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||7/8|ENST00000474315.5:c.735-323C>T|||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|;FOUND_IN=deepvariant;GNOMADAF=0.21;GNOMADAF_grpmax=0.2843\tGT:DP:AD:GQ:PL:RNC\t0/1:56:27,29:39:39,0,51:..", 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"chr20\t11457\tchr20_11457_G_A\tG\tA\t38\t.\tAF=0.5;AQ=38;CSQ=A|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||840|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||576|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||1049|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||1063|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||1097|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3944|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3944|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||1063|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||1063|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||1063|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||1063|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3944|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||2231|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||2238|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||2907|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||2907|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||2007|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||1063|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3944|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3944|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||1064|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||1063|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||1417|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||4258|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||2762|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||2446|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||3274|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay||4/5|ENST00000466494.6:c.349+69C>T|||||||||-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay||4/4|ENST00000477689.2:c.*61+69C>T|||||||||-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||6/6|ENST00000488299.5:n.840+69C>T|||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron||3/4|ENST00000492240.5:n.636+69C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||7/7|ENST00000380843.9:c.734+69C>T|||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||7/7|ENST00000380851.9:c.734+69C>T|||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||7/8|ENST00000474315.5:c.734+69C>T|||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||7/7|ENST00000613370.1:c.734+69C>T|||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|non_coding_transcript_exon_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|2/2||ENST00000466999.1:n.348C>T||348|||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|;FOUND_IN=deepvariant;GNOMADAF=0.359;GNOMADAF_grpmax=0.5642\tGT:DP:AD:GQ:PL:RNC\t0/1:31:15,16:39:38,0,52:..", 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"chr20\t1254\tchr20_1254_A_G\tA\tG\t40\t.\tAF=0.5;AQ=40;CSQ=G|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3524|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||3379|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3396|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3748|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3393|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||3380|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3379|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||4981|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||3340|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4959|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4968;GNOMADAF_grpmax=0.6154\tGT:DP:AD:GQ:PL:RNC\t0/1:45:21,23:40:40,0,50:..", 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"chr20\t13178\tchr20_13178_C_CTG\tC\tCTG\t41\t.\tAF=1;AQ=41;CSQ=TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2784|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||2818|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||2784|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||2784|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||2784|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||2784|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||3952|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||3959|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4628|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||4628|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||3728|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||2784|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||2785|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||2784|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||3138|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TG|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||4483|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,TG|downstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||4167|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,TG|downstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||4995|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||208|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||208|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||208|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||869|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||1261|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||208|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||868|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||624|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||208|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||208|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||818|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||208|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4146;GNOMADAF_grpmax=0.4455\tGT:DP:AD:GQ:PL:RNC\t1/1:44:0,43:39:41,41,0:..", 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"chr20\t1336\tchr20_1336_C_T\tC\tT\t42\t.\tAF=0.5;AQ=42;CSQ=T|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3442|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||3297|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3314|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3666|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3311|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||3298|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3297|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||4899|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||3258|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4877|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4096;GNOMADAF_grpmax=0.5462\tGT:DP:AD:GQ:PL:RNC\t0/1:45:22,23:42:42,0,53:..", 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"chr20\t1434\tchr20_1434_CT_C\tCT\tC\t24\t.\tAF=0.5;AQ=24;CSQ=-|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3343|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||3198|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3215|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3567|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3212|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||3199|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3198|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||4800|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||3159|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4778|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4053;GNOMADAF_grpmax=0.5377\tGT:DP:AD:GQ:PL:RNC\t0/1:42:24,17:22:24,0,24:..", 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"chr20\t1439\tchr20_1439_C_G\tC\tG\t27\t.\tAF=0.5;AQ=27;CSQ=G|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3339|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||3194|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3211|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3563|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3208|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||3195|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3194|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||4796|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||3155|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4774|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4061;GNOMADAF_grpmax=0.538\tGT:DP:AD:GQ:PL:RNC\t0/1:44:26,17:28:27,0,44:..", 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"chr20\t146\tchr20_146_G_C\tG\tC\t37\t.\tAF=0.5;AQ=37;CSQ=C|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||4632|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||4487|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||4504|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||4856|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||4501|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||4488|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||4487|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||4448|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2412;GNOMADAF_grpmax=0.4613\tGT:DP:AD:GQ:PL:RNC\t0/1:32:19,13:38:37,0,57:..", 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"chr20\t1466\tchr20_1466_A_G\tA\tG\t39\t.\tAF=0.5;AQ=39;CSQ=G|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3312|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||3167|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3184|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3536|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3181|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||3168|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3167|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||4769|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||3128|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4747|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4074;GNOMADAF_grpmax=0.539\tGT:DP:AD:GQ:PL:RNC\t0/1:43:24,19:40:39,0,54:..", 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"chr20\t1511\tchr20_1511_T_C\tT\tC\t41\t.\tAF=0.5;AQ=41;CSQ=C|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3267|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||3122|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3139|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3491|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3136|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||3123|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3122|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||4724|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||3083|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4702|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4074;GNOMADAF_grpmax=0.539\tGT:DP:AD:GQ:PL:RNC\t0/1:35:19,16:42:41,0,56:..", 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"chr20\t15231\tchr20_15231_G_A\tG\tA\t22\t.\tAF=0.5;AQ=22;CSQ=A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||4837|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||4871|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||4837|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||4837|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||4837|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||4837|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||4837|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||4838|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||4837|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||2261|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||2261|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2261|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||2922|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||3314|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||2261|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||2921|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||2677|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||2261|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2261|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||2871|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||2261|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:72:45,27:20:22,0,23:..", + "chr20\t15612\tchr20_15612_A_G\tA\tG\t3\t.\tAF=0.5;AQ=3;CSQ=G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||2642|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||2642|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2642|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||3303|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||3695|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||2642|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||3302|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||3058|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||2642|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2642|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||3252|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||2642|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:44:29,15:5:3,0,21:..", 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"chr20\t15670\tchr20_15670_T_TC\tT\tTC\t19\t.\tAF=0.5;AQ=19;CSQ=C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||2700|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||2700|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2700|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||3361|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||3753|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||2700|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||3360|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||3116|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||2700|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2700|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||3310|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||2700|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:57:33,24:18:19,0,25:..", 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"chr20\t15671\tchr20_15671_T_A\tT\tA\t26\t.\tAF=0.5;AQ=26;CSQ=A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||2701|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||2701|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2701|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||3362|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||3754|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||2701|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||3361|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||3117|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||2701|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2701|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||3311|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||2701|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:58:32,24:26:26,0,43:..", 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"chr20\t15800\tchr20_15800_A_G\tA\tG\t19\t.\tAF=0.5;AQ=19;CSQ=G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||2830|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||2830|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2830|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||3491|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||3883|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||2830|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||3490|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||3246|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||2830|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2830|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||3440|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||2830|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:56:39,17:19:19,0,25:..", 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"chr20\t1640\tchr20_1640_A_G\tA\tG\t41\t.\tAF=0.5;AQ=41;CSQ=G|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3138|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2993|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3010|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3362|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3007|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2994|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2993|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||4595|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2954|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4573|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4062;GNOMADAF_grpmax=0.539\tGT:DP:AD:GQ:PL:RNC\t0/1:38:17,21:42:41,0,53:..", 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"chr20\t16500\tchr20_16500_C_A\tC\tA\t23\t.\tAF=0.5;AQ=23;CSQ=A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||3530|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||3530|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||3530|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||4191|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||4583|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||3530|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||4190|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||3946|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||3530|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||3530|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||4140|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||3530|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:31:8,23:21:23,0,24:..", + "chr20\t16606\tchr20_16606_G_A\tG\tA\t40\t.\tAF=0.5;AQ=40;CSQ=A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||3636|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||3636|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||3636|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||4297|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||4689|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||3636|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||4296|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||4052|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||3636|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||3636|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||4246|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||3636|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:42:21,21:41:40,0,54:..", 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"chr20\t1666\tchr20_1666_G_A\tG\tA\t43\t.\tAF=0.5;AQ=43;CSQ=A|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3112|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2967|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2984|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3336|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2981|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2968|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2967|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||4569|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2928|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4547|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4063;GNOMADAF_grpmax=0.5393\tGT:DP:AD:GQ:PL:RNC\t0/1:36:16,20:43:43,0,51:..", 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"chr20\t17130\tchr20_17130_G_A\tG\tA\t28\t.\tAF=0.5;AQ=28;CSQ=A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||4160|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||4160|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||4160|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||4821|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||4160|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||4820|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||4576|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||4160|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||4160|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||4770|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||4160|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:28:15,13:29:28,0,47:..", 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"chr20\t17611\tchr20_17611_A_G\tA\tG\t3\t.\tAF=0.5;AQ=3;CSQ=G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||4641|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||4641|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||4641|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||4641|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||4641|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||4641|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||4641|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:57:33,24:5:3,0,22:..", 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"chr20\t17624\tchr20_17624_C_A\tC\tA\t6\t.\tAF=0.5;AQ=6;CSQ=A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||4654|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||4654|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||4654|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||4654|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||4654|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||4654|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||4654|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:49:27,22:8:6,0,23:..", 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"chr20\t17859\tchr20_17859_GTTTTTTTTTT_G\tGTTTTTTTTTT\tG\t4\t.\tAF=0.5;AQ=4;CSQ=-|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||4890|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,-|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||4890|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,-|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||4890|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,-|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||4890|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,-|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||4890|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,-|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||4890|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,-|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||4890|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:35:17,3:6:4,0,17:..", 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"chr20\t18217\tchr20_18217_G_T\tG\tT\t20\t.\tAF=0.5;AQ=20;CSQ=T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||||||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||||||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||||||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||||||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:83:56,19:18:20,0,21:..", 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"chr20\t18261\tchr20_18261_G_A\tG\tA\t20\t.\tAF=0.5;AQ=20;CSQ=A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||||||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||||||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||||||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||||||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:62:29,33:20:20,0,35:..", 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"chr20\t18265\tchr20_18265_A_G\tA\tG\t20\t.\tAF=0.5;AQ=20;CSQ=G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||||||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||||||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||||||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||||||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:61:28,31:20:20,0,35:..", 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"chr20\t18300\tchr20_18300_G_C\tG\tC\t33\t.\tAF=0.5;AQ=33;CSQ=C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||||||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||||||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||||||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||||||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:39:21,18:33:33,0,48:..", 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"chr20\t18314\tchr20_18314_T_A\tT\tA\t28\t.\tAF=0.5;AQ=28;CSQ=A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||||||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||||||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||||||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||||||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:39:21,18:28:28,0,43:..", 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"chr20\t18341\tchr20_18341_G_T\tG\tT\t26\t.\tAF=0.5;AQ=26;CSQ=T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||||||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||||||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||||||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||||||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:43:25,18:26:26,0,43:..", 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"chr20\t18358\tchr20_18358_C_A\tC\tA\t28\t.\tAF=0.5;AQ=28;CSQ=A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||||||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||||||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||||||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||||||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:39:22,17:28:28,0,46:..", 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"chr20\t20312\tchr20_20312_C_CCCTT\tC\tCCCTT\t22\t.\tAF=0.5;AQ=22;CSQ=CCTT|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:61:32,26:21:22,0,24:..", + "chr20\t20334\tchr20_20334_A_C\tA\tC\t25\t.\tAF=0.5;AQ=25;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:59:28,31:25:25,0,41:..", + "chr20\t20367\tchr20_20367_C_T\tC\tT\t28\t.\tAF=0.5;AQ=28;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:53:23,30:29:28,0,46:..", + "chr20\t20390\tchr20_20390_T_C\tT\tC\t28\t.\tAF=0.5;AQ=28;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:46:24,22:29:28,0,51:..", + 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"chr20\t20588\tchr20_20588_T_C\tT\tC\t10\t.\tAF=0.5;AQ=10;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:59:32,27:11:10,0,24:..", + "chr20\t20933\tchr20_20933_G_A\tG\tA\t2\t.\tAF=0.5;AQ=2;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:56:36,19:5:2,0,21:..", + "chr20\t20964\tchr20_20964_T_A\tT\tA\t1\t.\tAF=0.5;AQ=1;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:60:41,19:4:1,0,21:..", + "chr20\t20982\tchr20_20982_T_A\tT\tA\t22\t.\tAF=0.5;AQ=22;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:59:36,23:22:22,0,45:..", + "chr20\t21091\tchr20_21091_T_G\tT\tG\t23\t.\tAF=0.5;AQ=23;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:99:58,41:24:23,0,43:..", + "chr20\t21192\tchr20_21192_C_G\tC\tG\t22\t.\tAF=0.5;AQ=22;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:55:38,17:23:22,0,47:..", + "chr20\t21311\tchr20_21311_T_C\tT\tC\t28\t.\tAF=0.5;AQ=28;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:36:20,16:28:28,0,47:..", + "chr20\t21373\tchr20_21373_T_G\tT\tG\t42\t.\tAF=0.5;AQ=42;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:48:21,27:42:42,0,51:..", + 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"chr20\t2370\tchr20_2370_C_G\tC\tG\t40\t.\tAF=0.5;AQ=40;CSQ=G|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||2408|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2263|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2280|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2632|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2277|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2264|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4420|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||4728|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2263|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3865|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2224|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||4698|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3843|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4927;GNOMADAF_grpmax=0.6081\tGT:DP:AD:GQ:PL:RNC\t0/1:48:25,23:40:40,0,53:..", + "chr20\t23711\tchr20_23711_T_G\tT\tG\t1\t.\tAF=0.5;AQ=1;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:103:37,66:4:1,0,20:..", + "chr20\t23914\tchr20_23914_G_C\tG\tC\t8\t.\tAF=0.5;AQ=8;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:70:21,49:9:8,0,21:..", + "chr20\t24033\tchr20_24033_A_G\tA\tG\t15\t.\tAF=0.5;AQ=15;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:85:52,33:15:15,0,24:..", + "chr20\t24064\tchr20_24064_C_T\tC\tT\t22\t.\tAF=0.5;AQ=22;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:95:57,38:22:22,0,43:..", + "chr20\t24147\tchr20_24147_T_G\tT\tG\t17\t.\tAF=0.5;AQ=17;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:87:45,42:16:17,0,24:..", + "chr20\t24219\tchr20_24219_T_A\tT\tA\t20\t.\tAF=0.5;AQ=20;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:121:51,70:19:20,0,25:..", + "chr20\t24247\tchr20_24247_G_T\tG\tT\t17\t.\tAF=0.5;AQ=17;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:131:64,67:17:17,0,24:..", + "chr20\t24269\tchr20_24269_T_C\tT\tC\t1\t.\tAF=0.5;AQ=1;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:138:54,84:4:1,0,21:..", + "chr20\t2430\tchr20_2430_T_A\tT\tA\t36\t.\tAF=0.5;AQ=36;CSQ=A|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||2348|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2203|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2220|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2572|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2217|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2204|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4360|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||4668|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2203|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3805|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||4984|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2164|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||4638|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3783|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4022;GNOMADAF_grpmax=0.5241\tGT:DP:AD:GQ:PL:RNC\t0/1:38:22,16:36:36,0,54:..", + "chr20\t24418\tchr20_24418_AAC_A\tAAC\tA\t2\t.\tAF=0.5;AQ=2;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:174:142,32:5:2,0,21:..", + "chr20\t24522\tchr20_24522_C_CAA\tC\tCAA\t2\t.\tAF=0.5;AQ=2;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:257:47,84:5:2,0,16:..", + "chr20\t24914\tchr20_24914_C_A\tC\tA\t0\t.\tAF=0.5;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:67:31,36:3:0,0,19:..", + "chr20\t25070\tchr20_25070_A_T\tA\tT\t12\t.\tAF=0.5;AQ=12;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:27:18,7:13:12,0,24:..", + "chr20\t25180\tchr20_25180_G_C\tG\tC\t23\t.\tAF=0.5;AQ=23;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:49:34,14:23:23,0,48:..", + "chr20\t25247\tchr20_25247_A_G\tA\tG\t20\t.\tAF=0.5;AQ=20;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:47:32,15:20:20,0,41:..", + "chr20\t2547\tchr20_2547_A_G\tA\tG\t35\t.\tAF=0.5;AQ=35;CSQ=G|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||2231|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2086|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2103|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2455|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||4890|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2100|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2087|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4243|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||4551|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2086|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3688|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||4867|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2047|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||4521|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3666|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4926;GNOMADAF_grpmax=0.6081\tGT:DP:AD:GQ:PL:RNC\t0/1:50:31,19:36:35,0,53:..", + "chr20\t25478\tchr20_25478_A_C\tA\tC\t17\t.\tAF=0.5;AQ=17;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:93:42,51:17:17,0,24:..", + "chr20\t25495\tchr20_25495_G_C\tG\tC\t11\t.\tAF=0.5;AQ=11;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:99:59,40:12:11,0,24:..", + "chr20\t25699\tchr20_25699_A_C\tA\tC\t2\t.\tAF=0.5;AQ=2;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:70:25,43:4:2,0,21:..", + "chr20\t25721\tchr20_25721_A_AAGAG\tA\tAAGAG\t5\t.\tAF=0.5;AQ=5;CSQ=AGAG|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:73:63,5:7:5,0,20:..", + "chr20\t2580\tchr20_2580_A_G\tA\tG\t35\t.\tAF=0.5;AQ=35;CSQ=G|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||2198|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2053|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2070|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2422|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||4857|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2067|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2054|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4210|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||4518|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2053|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3655|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||4834|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||4968|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2014|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||4488|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3633|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3987;GNOMADAF_grpmax=0.5125\tGT:DP:AD:GQ:PL:RNC\t0/1:51:31,20:35:35,0,53:..", + "chr20\t25934\tchr20_25934_A_G\tA\tG\t20\t.\tAF=0.5;AQ=20;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:46:29,17:21:20,0,41:..", + "chr20\t2624\tchr20_2624_G_C\tG\tC\t37\t.\tAF=0.5;AQ=37;CSQ=C|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||2154|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2009|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||4993|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2026|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2378|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||4813|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2023|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2010|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4166|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||4474|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2009|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3611|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||4790|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||4924|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||1970|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||4444|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3589|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4927;GNOMADAF_grpmax=0.6089\tGT:DP:AD:GQ:PL:RNC\t0/1:47:28,19:38:37,0,54:..", + "chr20\t26633\tchr20_26633_T_C\tT\tC\t39\t.\tAF=0.5;AQ=39;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:51:26,25:39:39,0,51:..", + "chr20\t26708\tchr20_26708_T_C\tT\tC\t37\t.\tAF=0.5;AQ=37;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:43:22,21:38:37,0,52:..", + "chr20\t26867\tchr20_26867_G_GAA\tG\tGAA\t24\t.\tAF=0.5;AQ=24;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:39:26,13:21:24,0,24:..", + "chr20\t27513\tchr20_27513_C_A\tC\tA\t20\t.\tAF=0.5;AQ=20;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:129:46,83:19:20,0,24:..", + "chr20\t27531\tchr20_27531_A_AT\tA\tAT\t15\t.\tAF=0.5;AQ=15;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:129:54,72:15:15,0,24:..", + "chr20\t27537\tchr20_27537_A_G\tA\tG\t11\t.\tAF=0.5;AQ=11;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:121:49,72:11:11,0,23:..", + "chr20\t27579\tchr20_27579_T_C\tT\tC\t24\t.\tAF=0.5;AQ=24;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:103:39,64:24:24,0,32:..", + "chr20\t27616\tchr20_27616_C_G\tC\tG\t24\t.\tAF=0.5;AQ=24;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:93:32,61:22:24,0,25:..", + "chr20\t2763\tchr20_2763_C_T\tC\tT\t38\t.\tAF=0.5;AQ=38;CSQ=T|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||2015|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||1870|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||4854|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||1887|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2239|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||4674|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||1884|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||1871|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4027|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||4335|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||1870|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3472|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||4651|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||4785|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||1831|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||4305|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3450|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4922;GNOMADAF_grpmax=0.6084\tGT:DP:AD:GQ:PL:RNC\t0/1:33:19,14:38:38,0,48:..", + "chr20\t27659\tchr20_27659_A_G\tA\tG\t26\t.\tAF=0.5;AQ=26;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:85:32,53:25:26,0,32:..", + "chr20\t27687\tchr20_27687_T_A\tT\tA\t30\t.\tAF=0.5;AQ=30;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:88:35,53:30:30,0,38:..", + "chr20\t27718\tchr20_27718_C_A\tC\tA\t31\t.\tAF=0.5;AQ=31;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:76:31,45:31:31,0,38:..", + "chr20\t27766\tchr20_27766_G_A\tG\tA\t21\t.\tAF=0.5;AQ=21;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:70:36,33:21:21,0,38:..", + "chr20\t27773\tchr20_27773_T_C\tT\tC\t22\t.\tAF=0.5;AQ=22;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:71:38,33:22:22,0,42:..", + "chr20\t27842\tchr20_27842_A_T\tA\tT\t12\t.\tAF=0.5;AQ=12;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:55:37,18:13:12,0,24:..", + "chr20\t27864\tchr20_27864_T_C\tT\tC\t4\t.\tAF=0.5;AQ=4;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:64:44,20:6:4,0,22:..", + "chr20\t27869\tchr20_27869_CA_C\tCA\tC\t18\t.\tAF=0.5;AQ=18;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:66:46,20:18:18,0,25:..", + "chr20\t27881\tchr20_27881_G_A\tG\tA\t17\t.\tAF=0.5;AQ=17;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:66:41,25:17:17,0,24:..", + "chr20\t27886\tchr20_27886_A_C\tA\tC\t16\t.\tAF=0.5;AQ=16;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:65:42,23:16:16,0,24:..", + "chr20\t27911\tchr20_27911_C_T\tC\tT\t9\t.\tAF=0.5;AQ=9;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:58:32,26:9:9,0,23:..", + "chr20\t27941\tchr20_27941_T_C\tT\tC\t34\t.\tAF=0.5;AQ=34;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:67:32,35:35:34,0,48:..", + "chr20\t27990\tchr20_27990_C_T\tC\tT\t14\t.\tAF=0.5;AQ=14;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:69:36,33:14:14,0,25:..", + "chr20\t28909\tchr20_28909_C_A\tC\tA\t22\t.\tAF=0.5;AQ=22;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:88:52,36:21:22,0,24:..", + "chr20\t28922\tchr20_28922_T_C\tT\tC\t18\t.\tAF=0.5;AQ=18;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:84:50,34:18:18,0,24:..", + "chr20\t28952\tchr20_28952_C_G\tC\tG\t11\t.\tAF=0.5;AQ=11;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:85:48,37:11:11,0,23:..", + "chr20\t28977\tchr20_28977_G_A\tG\tA\t7\t.\tAF=0.5;AQ=7;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:86:47,39:8:7,0,22:..", + "chr20\t28978\tchr20_28978_C_T\tC\tT\t5\t.\tAF=0.5;AQ=5;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:85:45,40:6:5,0,22:..", + 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"chr20\t2922\tchr20_2922_T_C\tT\tC\t33\t.\tAF=0.5;AQ=33;CSQ=C|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||1856|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||1711|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||4695|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||1728|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2080|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||4515|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||1725|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||1712|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||3868|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||4176|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||1711|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3313|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||4492|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||4626|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||1672|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||4146|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3291|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3936;GNOMADAF_grpmax=0.5281\tGT:DP:AD:GQ:PL:RNC\t0/1:34:17,17:33:33,0,48:..", + "chr20\t29240\tchr20_29240_A_G\tA\tG\t0\t.\tAF=0.5;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:110:32,77:3:0,0,18:..", + "chr20\t29413\tchr20_29413_GTA_G\tGTA\tG\t6\t.\tAF=0.5;AQ=6;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t./1:37:.,12:.:0,0,0:O.", + "chr20\t29475\tchr20_29475_G_T\tG\tT\t38\t.\tAF=0.5;AQ=38;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:42:12,30:35:38,0,38:..", + "chr20\t30082\tchr20_30082_C_T\tC\tT\t18\t.\tAF=0.5;AQ=18;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:158:138,20:18:18,0,25:..", + "chr20\t30151\tchr20_30151_G_A\tG\tA\t4\t.\tAF=0.5;AQ=4;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:177:140,36:6:4,0,22:..", + "chr20\t30185\tchr20_30185_A_G\tA\tG\t11\t.\tAF=0.5;AQ=11;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:146:77,69:9:11,0,12:..", + "chr20\t30524\tchr20_30524_T_G\tT\tG\t30\t.\tAF=0.5;AQ=30;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:40:13,27:29:30,0,33:..", + "chr20\t30609\tchr20_30609_A_T\tA\tT\t27\t.\tAF=0.5;AQ=27;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:50:32,17:27:27,0,51:..", + "chr20\t30892\tchr20_30892_A_G\tA\tG\t23\t.\tAF=0.5;AQ=23;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:34:13,21:22:23,0,29:..", + "chr20\t30904\tchr20_30904_A_G\tA\tG\t21\t.\tAF=0.5;AQ=21;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:33:16,17:21:21,0,35:..", + "chr20\t30959\tchr20_30959_C_G\tC\tG\t41\t.\tAF=0.5;AQ=41;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:35:16,19:41:41,0,51:..", + "chr20\t31423\tchr20_31423_A_G\tA\tG\t23\t.\tAF=0.5;AQ=23;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:56:29,27:21:23,0,23:..", + "chr20\t31488\tchr20_31488_T_C\tT\tC\t19\t.\tAF=0.5;AQ=19;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:44:15,29:18:19,0,24:..", + "chr20\t3161\tchr20_3161_G_A\tG\tA\t39\t.\tAF=0.5;AQ=39;CSQ=A|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||1617|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||1472|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||4456|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||1489|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||1841|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||4951|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||4276|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||1486|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||1473|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||4999|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||3629|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||3937|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||4786|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||1472|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3074|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||4253|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||4387|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||1433|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3907|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3052|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||4937|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4929;GNOMADAF_grpmax=0.609\tGT:DP:AD:GQ:PL:RNC\t0/1:31:16,15:40:39,0,53:..", + "chr20\t32313\tchr20_32313_G_A\tG\tA\t26\t.\tAF=0.5;AQ=26;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:56:31,25:27:26,0,45:..", + "chr20\t32541\tchr20_32541_T_C\tT\tC\t41\t.\tAF=0.5;AQ=41;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:29:13,16:41:41,0,52:..", + "chr20\t33589\tchr20_33589_T_A\tT\tA\t23\t.\tAF=0.5;AQ=23;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:54:41,13:21:23,0,24:..", + "chr20\t34273\tchr20_34273_C_A\tC\tA\t23\t.\tAF=0.5;AQ=23;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:44:29,15:21:23,0,24:..", + "chr20\t34340\tchr20_34340_C_T\tC\tT\t23\t.\tAF=0.5;AQ=23;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:63:45,18:21:23,0,24:..", + "chr20\t34369\tchr20_34369_A_G\tA\tG\t9\t.\tAF=0.5;AQ=9;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:61:15,46:10:9,0,23:..", + "chr20\t34398\tchr20_34398_T_G\tT\tG\t25\t.\tAF=0.5;AQ=25;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:67:35,32:25:25,0,44:..", + "chr20\t34409\tchr20_34409_C_G\tC\tG\t21\t.\tAF=0.5;AQ=21;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:66:32,34:22:21,0,43:..", + "chr20\t34476\tchr20_34476_T_C\tT\tC\t0\t.\tAF=0.5;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:77:39,38:3:0,0,21:..", + "chr20\t34488\tchr20_34488_A_G\tA\tG\t7\t.\tAF=0.5;AQ=7;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:74:34,40:8:7,0,23:..", + "chr20\t34501\tchr20_34501_T_A\tT\tA\t5\t.\tAF=0.5;AQ=5;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:77:39,38:7:5,0,23:..", + "chr20\t34626\tchr20_34626_C_T\tC\tT\t23\t.\tAF=0.5;AQ=23;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:39:24,15:21:23,0,24:..", + 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"chr20\t3531\tchr20_3531_A_ATTT\tA\tATTT\t24\t.\tAF=0.5;AQ=24;CSQ=TTT|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||1246|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||1101|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||4085|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||1118|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||1470|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||4580|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||3905|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||1115|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||1102|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||4879|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||4628|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||3258|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||3566|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||4870|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||4415|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||1101|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||2703|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||3882|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||4016|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||1062|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3536|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,TTT|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||2681|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,TTT|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||4566|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.491;GNOMADAF_grpmax=0.6068\tGT:DP:AD:GQ:PL:RNC\t0/1:41:22,17:22:24,0,24:..", 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+ "chr20\t35833\tchr20_35833_T_A\tT\tA\t14\t.\tAF=0.5;AQ=14;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:54:39,12:14:14,0,25:..", + "chr20\t36166\tchr20_36166_A_G\tA\tG\t12\t.\tAF=0.5;AQ=12;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:213:150,62:13:12,0,24:..", + "chr20\t3683\tchr20_3683_C_T\tC\tT\t42\t.\tAF=0.5;AQ=42;CSQ=T|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||1095|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||950|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||3934|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||967|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||1319|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||4958|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||4429|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||3754|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||964|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||951|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||4728|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||4477|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||3107|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||3415|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||4719|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||4264|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||950|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||2552|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||3731|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||3865|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||911|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3385|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||2530|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||4942|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||4415|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4925;GNOMADAF_grpmax=0.6083\tGT:DP:AD:GQ:PL:RNC\t0/1:41:19,22:43:42,0,53:..", + "chr20\t394\tchr20_394_T_C\tT\tC\t39\t.\tAF=0.5;AQ=39;CSQ=C|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||4384|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||4239|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||4256|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||4608|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||4253|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||4240|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||4239|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||4200|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0252;GNOMADAF_grpmax=0.0848\tGT:DP:AD:GQ:PL:RNC\t0/1:40:22,18:39:39,0,55:..", + "chr20\t4331\tchr20_4331_T_A\tT\tA\t41\t.\tAF=0.5;AQ=41;CSQ=A|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||447|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||302|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||3286|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||319|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||671|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||4310|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||3781|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||3106|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||4619|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||316|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||303|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||4080|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||3829|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||2459|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||2767|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||4071|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||3616|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||302|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||1904|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||3083|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||3217|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||263|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||2737|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||1882|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||4294|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||4609|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||3767|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4813;GNOMADAF_grpmax=0.5818\tGT:DP:AD:GQ:PL:RNC\t0/1:25:11,14:42:41,0,56:..", + "chr20\t448\tchr20_448_G_A\tG\tA\t43\t.\tAF=0.5;AQ=43;CSQ=A|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||4330|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||4185|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||4202|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||4554|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||4199|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||4186|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||4185|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||4146|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0455;GNOMADAF_grpmax=0.1553\tGT:DP:AD:GQ:PL:RNC\t0/1:37:17,20:43:43,0,52:..", + "chr20\t4680\tchr20_4680_GGGGCGC_G\tGGGGCGC\tG\t24\t.\tAF=0.5;AQ=24;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay||1/13|ENST00000651302.1:c.3+22_3+27del|||||||||1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||5||||||0.285|0.01||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined||1/2|ENST00000470143.1:n.31+22_31+27del|||||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||5||||||0.285|0.01||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined||1/6|ENST00000494697.5:n.32+22_32+27del|||||||||1|||||5||||||||minimal_reference.sorted.gtf.gz||||5||||||0.285|0.01||||||||||,-|intron_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding||1/11|ENST00000329276.10:c.3+22_3+27del|||||||||1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||5||||||0.285|0.01||||||||||,-|intron_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding||1/5|ENST00000445139.1:c.3+22_3+27del|||||||||1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||5||||||0.285|0.01||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|1/5||ENST00000469588.5:n.40_45del||35-40|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||5||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||92|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||2931|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||316|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||3955|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||3426|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||2751|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||4264|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||3725|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||3474|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||2104|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||2412|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||3716|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||3261|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||1549|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||2728|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||2862|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||2382|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||1527|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||3939|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||4254|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||3412|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3163;GNOMADAF_grpmax=0.4163\tGT:DP:AD:GQ:PL:RNC\t0/1:27:9,18:22:24,0,24:..", + "chr20\t4733\tchr20_4733_A_AGAGCCTGGGCCT\tA\tAGAGCCTGGGCCT\t23\t.\tAF=0.5;AQ=23;CSQ=GAGCCTGGGCCT|intron_variant&NMD_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay||1/13|ENST00000651302.1:c.3+70_3+71insAGCCTGGGCCTG|||||||||1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01||||||||||,GAGCCTGGGCCT|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined||1/2|ENST00000470143.1:n.31+70_31+71insAGCCTGGGCCTG|||||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01||||||||||,GAGCCTGGGCCT|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined||1/6|ENST00000494697.5:n.32+70_32+71insAGCCTGGGCCTG|||||||||1|||||5||||||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01||||||||||,GAGCCTGGGCCT|intron_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding||1/11|ENST00000329276.10:c.3+70_3+71insAGCCTGGGCCTG|||||||||1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01||||||||||,GAGCCTGGGCCT|intron_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding||1/5|ENST00000445139.1:c.3+70_3+71insAGCCTGGGCCTG|||||||||1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01||||||||||,GAGCCTGGGCCT|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|1/5||ENST00000469588.5:n.88_89insAGCCTGGGCCTG||87-88|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||44|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||2883|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||268|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||3907|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||3378|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||2703|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||4216|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||3677|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||3426|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||2056|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||2364|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||3668|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||3213|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||1501|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||2680|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||2814|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||2334|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||1479|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||3891|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||4206|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||3364|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4088;GNOMADAF_grpmax=0.5457\tGT:DP:AD:GQ:PL:RNC\t0/1:32:9,16:20:23,0,23:..", + "chr20\t4735\tchr20_4735_G_A\tG\tA\t23\t.\tAF=0.5;AQ=23;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay||1/13|ENST00000651302.1:c.3+71G>A|||||||||1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined||1/2|ENST00000470143.1:n.31+71G>A|||||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined||1/6|ENST00000494697.5:n.32+71G>A|||||||||1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|intron_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding||1/11|ENST00000329276.10:c.3+71G>A|||||||||1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|intron_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding||1/5|ENST00000445139.1:c.3+71G>A|||||||||1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|1/5||ENST00000469588.5:n.89G>A||89|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||43|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||2882|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||267|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||3906|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||3377|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||2702|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||4215|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||3676|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||3425|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||2055|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||2363|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||3667|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||3212|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||1500|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||2679|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||2813|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||2333|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||1478|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||3890|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||4205|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||3363|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:27:18,9:21:23,0,25:..", 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+ "chr20\t5640\tchr20_5640_CTG_C\tCTG\tC\t32\t.\tAF=0.5;AQ=32;CSQ=-|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||4754|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,-|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||4754|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,-|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||4754|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,-|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||4754|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,-|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||4901|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,-|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||4754|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,-|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||4754|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,-|downstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||798|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay||3/13|ENST00000651302.1:c.208+248_208+249del|||||||||1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined||2/4|ENST00000460258.5:n.288+248_288+249del|||||||||1|||||4||||||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined||2/4|ENST00000469588.5:n.401+248_401+249del|||||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined||3/6|ENST00000494697.5:n.237+248_237+249del|||||||||1|||||5||||||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|intron_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding||3/11|ENST00000329276.10:c.208+248_208+249del|||||||||1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|intron_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding||3/5|ENST00000445139.1:c.208+248_208+249del|||||||||1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|3/3||ENST00000470143.1:n.484_485del||483-484|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||1975|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||2999|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||2470|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||1795|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||3308|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||2769|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||2518|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||1148|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||1456|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||2760|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||2305|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||593|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||1772|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||1906|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||1426|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||571|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||2983|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||3298|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||2456|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.157;GNOMADAF_grpmax=0.229\tGT:DP:AD:GQ:PL:RNC\t0/1:39:14,25:30:32,0,34:..", + "chr20\t697\tchr20_697_A_G\tA\tG\t42\t.\tAF=0.5;AQ=42;CSQ=G|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||4081|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||3936|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3953|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||4305|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3950|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||3937|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3936|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||3897|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.084;GNOMADAF_grpmax=0.0927\tGT:DP:AD:GQ:PL:RNC\t0/1:41:19,22:42:42,0,50:..", + "chr20\t747\tchr20_747_G_A\tG\tA\t39\t.\tAF=0.5;AQ=39;CSQ=A|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||4031|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||3886|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3903|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||4255|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3900|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||3887|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3886|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||3847|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3129;GNOMADAF_grpmax=0.3363\tGT:DP:AD:GQ:PL:RNC\t0/1:33:12,21:39:39,0,44:..", + "chr20\t930\tchr20_930_A_AAAT\tA\tAAAT\t24\t.\tAF=0.5;AQ=24;CSQ=AAT|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3847|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,AAT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||3702|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,AAT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3719|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,AAT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||4071|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,AAT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3716|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,AAT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||3703|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,AAT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3702|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,AAT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||3663|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0899;GNOMADAF_grpmax=0.1097\tGT:DP:AD:GQ:PL:RNC\t0/1:47:31,15:21:24,0,24:..", + "chr20\t959\tchr20_959_AT_A\tAT\tA\t23\t.\tAF=0.5;AQ=23;CSQ=-|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3818|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||3673|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3690|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||4042|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3687|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||3674|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3673|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||3634|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1298;GNOMADAF_grpmax=0.2092\tGT:DP:AD:GQ:PL:RNC\t0/1:39:18,21:21:23,0,24:..", + "chr20\t961\tchr20_961_AATAATAATAAT_A\tAATAATAATAAT\tA\t23\t.\tAF=0.5;AQ=23;CSQ=-|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3806|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||3661|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3678|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||4030|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3675|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||3662|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3661|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||3622|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1312;GNOMADAF_grpmax=0.212\tGT:DP:AD:GQ:PL:RNC\t0/1:39:18,21:21:23,0,24:..", + "chr20\t9934\tchr20_9934_T_C\tT\tC\t33\t.\tAF=0.5;AQ=33;CSQ=C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|8/8||ENST00000467196.5:c.*103T>C||860|||||||1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|14/14||ENST00000651302.1:c.*157T>C||1662|||||||1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|3_prime_UTR_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|6/6||ENST00000415272.2:c.*543T>C||1202|||||||1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||462|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||462|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2363|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||462|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||1350|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||462|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||609|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||2099|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||462|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2572|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||462|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||1082|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2421|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2421|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2421|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||4113|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||708|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||715|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||1384|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||1384|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||484|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2421|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||2421|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||2735|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3647|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||1239|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||923|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||1751|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|missense_variant|MODERATE|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|12/12||ENST00000329276.10:c.1424T>C|ENSP00000370589.1:p.Met475Thr|1453|1424|475|M/T|aTg/aCg|||1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|3/3||ENST00000462630.5:n.399T>C||399|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|6/6||ENST00000466447.5:n.634T>C||634|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|2/2||ENST00000467857.1:n.275T>C||275|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|5/5||ENST00000492135.5:n.683T>C||683|||||||1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|1/1||ENST00000612233.1:n.2521T>C||2521|||||||1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|2/2||ENST00000616692.1:n.2202T>C||2202|||||||1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|;FOUND_IN=deepvariant;GNOMADAF=0.3579;GNOMADAF_grpmax=0.5588\tGT:DP:AD:GQ:PL:RNC\t0/1:41:25,16:34:33,0,55:..", + "chr21\t12216\tchr21_12216_G_A\tG\tA\t41\t.\tAF=0.5;AQ=41;CSQ=A|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||642|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1856;GNOMADAF_grpmax=0.468\tGT:DP:AD:GQ:PL:RNC\t0/1:43:22,21:41:41,0,51:..", + "chr21\t13083\tchr21_13087_GTATATA_G;chr21_13083_GTGTGTATATATA_G\tGTGTGTATATATA\tG\t19\t.\tAF=0.5;AQ=18;CSQ=-|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||1510|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||4419|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||4465|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||4483|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||4483|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2872;GNOMADAF_grpmax=0.5408\tGT:DP:AD:GQ:PL:RNC\t0/1:17:.,21:18:0,0,0:..", + "chr21\t13087\tchr21_13087_GTATATA_G;chr21_13083_GTGTGTATATATA_G\tGTATATA\tG\t19\t.\tAF=0.5;AQ=19;CSQ=-|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||1514|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||4421|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||4467|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||4485|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||4485|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2704;GNOMADAF_grpmax=0.4493\tGT:DP:AD:GQ:PL:RNC\t1/0:17:.,16:18:0,0,0:..", + 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"chr21\t13977\tchr21_13977_G_T\tG\tT\t33\t.\tAF=0.5;AQ=33;CSQ=T|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||2403|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|||||||||||4517|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||3537|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||3583|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||3601|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||3601|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2669;GNOMADAF_grpmax=0.5154\tGT:DP:AD:GQ:PL:RNC\t0/1:43:23,20:33:33,0,45:..", 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"chr21\t13978\tchr21_13978_A_AT\tA\tAT\t24\t.\tAF=0.5;AQ=24;CSQ=T|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||2404|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|||||||||||4515|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||3535|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||3581|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||3599|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||3599|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.298;GNOMADAF_grpmax=0.4732\tGT:DP:AD:GQ:PL:RNC\t0/1:42:23,18:22:24,0,24:..", 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"chr21\t14816\tchr21_14816_C_T\tC\tT\t33\t.\tAF=0.5;AQ=33;CSQ=T|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||3242|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|||||||||||3678|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||2698|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||2744|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||2762|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||2762|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.23;GNOMADAF_grpmax=0.4604\tGT:DP:AD:GQ:PL:RNC\t0/1:23:14,9:34:33,0,51:..", 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"chr21\t159\tchr21_159_TTA_T\tTTA\tT\t31\t.\tAF=0.5;AQ=31;CSQ=-|downstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000291568|protein_coding|||||||||||1790|-1||||YES|1|||ENSP00000291568|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|downstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000480147|retained_intron|||||||||||365|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|downstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000639959|protein_coding|||||||||||351|-1|||||5|||ENSP00000492123|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|downstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000640406|protein_coding|||||||||||361|-1|||||2|||ENSP00000492672|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|downstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000675996|protein_coding_CDS_not_defined|||||||||||1506|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2702;GNOMADAF_grpmax=0.4393\tGT:DP:AD:GQ:PL:RNC\t0/1:41:19,22:31:31,0,39:..", 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"chr21\t16150\tchr21_16150_T_C\tT\tC\t40\t.\tAF=0.5;AQ=40;CSQ=C|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||4576|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000467112|retained_intron|||||||||||4782|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|||||||||||2344|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||1364|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||1410|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||1428|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||1428|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1938;GNOMADAF_grpmax=0.4724\tGT:DP:AD:GQ:PL:RNC\t0/1:42:22,20:40:40,0,53:..", 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"chr21\t16390\tchr21_16390_A_C\tA\tC\t39\t.\tAF=0.5;AQ=39;CSQ=C|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||4816|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000467112|retained_intron|||||||||||4542|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|||||||||||2104|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||1124|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||1170|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||1188|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||1188|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2293;GNOMADAF_grpmax=0.472\tGT:DP:AD:GQ:PL:RNC\t0/1:41:20,20:40:39,0,52:..", + "chr21\t19052\tchr21_19052_G_A\tG\tA\t43\t.\tAF=0.5;AQ=43;CSQ=A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|2/9||ENST00000483896.5:c.*31G>A||240|||||||1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|5|-35|5|33|0.00|0.01|0.01|0.00|RRP1|,A|intron_variant&non_coding_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined||1/5|ENST00000475534.5:n.184-299G>A|||||||||1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|5|-35|5|33|0.00|0.01|0.01|0.00|RRP1|,A|intron_variant&non_coding_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron||1/2|ENST00000492638.1:n.187-299G>A|||||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|5|-35|5|33|0.00|0.01|0.01|0.00|RRP1|,A|intron_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding||1/10|ENST00000497547.2:c.134-299G>A|||||||||1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|5|-35|5|33|0.00|0.01|0.01|0.00|RRP1|,A|non_coding_transcript_exon_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|1/2||ENST00000473988.1:n.559G>A||559|||||||1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|5|-35|5|33|0.00|0.01|0.01|0.00|RRP1|,A|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000467112|retained_intron|||||||||||1880|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|5|-35|5|33|0.00|0.01|0.01|0.00|RRP1|;FOUND_IN=deepvariant;GNOMADAF=0.1838;GNOMADAF_grpmax=0.4705\tGT:DP:AD:GQ:PL:RNC\t0/1:35:15,20:43:43,0,52:..", + "chr21\t19727\tchr21_19727_A_G\tA\tG\t32\t.\tAF=0.5;AQ=32;CSQ=G|downstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|||||||||||314|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|-37|-40|42|-40|0.00|0.00|0.00|0.00|RRP1|,G|intron_variant&NMD_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay||3/8|ENST00000483896.5:c.*119+294A>G|||||||||1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|-37|-40|42|-40|0.00|0.00|0.00|0.00|RRP1|,G|intron_variant&non_coding_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined||2/5|ENST00000475534.5:n.266+294A>G|||||||||1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|-37|-40|42|-40|0.00|0.00|0.00|0.00|RRP1|,G|intron_variant&non_coding_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron||2/2|ENST00000492638.1:n.269+294A>G|||||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|-37|-40|42|-40|0.00|0.00|0.00|0.00|RRP1|,G|intron_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding||2/10|ENST00000497547.2:c.216+294A>G|||||||||1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|-37|-40|42|-40|0.00|0.00|0.00|0.00|RRP1|,G|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000467112|retained_intron|||||||||||1205|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|-37|-40|42|-40|0.00|0.00|0.00|0.00|RRP1|;FOUND_IN=deepvariant;GNOMADAF=0.2179;GNOMADAF_grpmax=0.4707\tGT:DP:AD:GQ:PL:RNC\t0/1:37:24,13:32:32,0,53:..", 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"chr21\t4984\tchr21_4984_CT_C;chr21_4984_CTT_C\tCTT\tC\t21\t.\tAF=0.5;AQ=21;CSQ=-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000291568|protein_coding|||||||||||676|-1||||YES|1|||ENSP00000291568|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000480147|retained_intron|||||||||||716|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000639959|protein_coding|||||||||||746|-1|||||5|||ENSP00000492123|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000640406|protein_coding|||||||||||666|-1|||||2|||ENSP00000492672|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000675996|protein_coding_CDS_not_defined|||||||||||654|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:41:6,17:15:24,21,24:..", 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"chrX\t13488\tchrX_13488_A_G\tA\tG\t47\t.\tAF=1;AQ=47;CSQ=G|downstream_gene_variant|MODIFIER|SOX3|ENSG00000134595|Transcript|ENST00000370536|protein_coding|||||||||||4498|-1||||YES||||ENSP00000359567|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:16:0,16:47:47,99,0:..", + "chrX\t21981\tchrX_21981_C_T\tC\tT\t45\t.\tAF=1;AQ=45;CSQ=T|upstream_gene_variant|MODIFIER|SOX3|ENSG00000134595|Transcript|ENST00000370536|protein_coding|||||||||||1911|-1||||YES||||ENSP00000359567|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:13:0,13:46:45,99,0:..", + "chrX\t24389\tchrX_24389_A_T\tA\tT\t48\t.\tAF=1;AQ=48;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=T|upstream_gene_variant|MODIFIER|SOX3|ENSG00000134595|Transcript|ENST00000370536|protein_coding|||||||||||4319|-1||||YES||||ENSP00000359567|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0675;GNOMADAF_grpmax=0.1039\tGT:DP:AD:GQ:PL:RNC\t1/1:20:0,20:49:48,99,0:..", + "chrX\t24455\tchrX_24455_TAA_T\tTAA\tT\t24\t.\tAF=1;AQ=24;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=-|upstream_gene_variant|MODIFIER|SOX3|ENSG00000134595|Transcript|ENST00000370536|protein_coding|||||||||||4386|-1||||YES||||ENSP00000359567|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:16:0,15:25:24,99,0:..", + "chrX\t25195\tchrX_25195_GC_G\tGC\tG\t22\t.\tAF=1;AQ=22;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:8:0,8:23:22,99,0:..", + "chrX\t25198\tchrX_25198_AAACC_A\tAAACC\tA\t22\t.\tAF=1;AQ=22;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:8:0,8:22:22,99,0:..", + "chrX\t25737\tchrX_25737_AT_A\tAT\tA\t24\t.\tAF=1;AQ=24;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:19:0,19:25:24,99,0:..", + 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"chr20\t11457\tchr20_11457_G_A\tG\tA\t38\t.\tAF=0.5;AQ=38;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:31:15,16:39:38,0,52:..", + "chr20\t1254\tchr20_1254_A_G\tA\tG\t40\t.\tAF=0.5;AQ=40;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:45:21,23:40:40,0,50:..", + "chr20\t13178\tchr20_13178_C_CTG\tC\tCTG\t41\t.\tAF=1;AQ=41;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:44:0,43:39:41,41,0:..", + "chr20\t1336\tchr20_1336_C_T\tC\tT\t42\t.\tAF=0.5;AQ=42;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:45:22,23:42:42,0,53:..", + "chr20\t1434\tchr20_1434_CT_C\tCT\tC\t24\t.\tAF=0.5;AQ=24;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:42:24,17:22:24,0,24:..", + "chr20\t1439\tchr20_1439_C_G\tC\tG\t27\t.\tAF=0.5;AQ=27;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:44:26,17:28:27,0,44:..", + "chr20\t146\tchr20_146_G_C\tG\tC\t37\t.\tAF=0.5;AQ=37;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:32:19,13:38:37,0,57:..", + "chr20\t1466\tchr20_1466_A_G\tA\tG\t39\t.\tAF=0.5;AQ=39;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:43:24,19:40:39,0,54:..", + "chr20\t14748\tchr20_14748_T_C\tT\tC\t21\t.\tAF=0.5;AQ=21;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:52:33,19:22:21,0,45:..", + "chr20\t1511\tchr20_1511_T_C\tT\tC\t41\t.\tAF=0.5;AQ=41;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:35:19,16:42:41,0,56:..", + "chr20\t15231\tchr20_15231_G_A\tG\tA\t22\t.\tAF=0.5;AQ=22;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:72:45,27:20:22,0,23:..", + "chr20\t15612\tchr20_15612_A_G\tA\tG\t3\t.\tAF=0.5;AQ=3;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:44:29,15:5:3,0,21:..", + "chr20\t15670\tchr20_15670_T_TC\tT\tTC\t19\t.\tAF=0.5;AQ=19;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:57:33,24:18:19,0,25:..", + "chr20\t15671\tchr20_15671_T_A\tT\tA\t26\t.\tAF=0.5;AQ=26;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:58:32,24:26:26,0,43:..", + "chr20\t15753\tchr20_15753_C_T\tC\tT\t26\t.\tAF=0.5;AQ=26;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:49:29,19:27:26,0,45:..", + "chr20\t15800\tchr20_15800_A_G\tA\tG\t19\t.\tAF=0.5;AQ=19;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:56:39,17:19:19,0,25:..", + "chr20\t1640\tchr20_1640_A_G\tA\tG\t41\t.\tAF=0.5;AQ=41;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:38:17,21:42:41,0,53:..", + "chr20\t16500\tchr20_16500_C_A\tC\tA\t23\t.\tAF=0.5;AQ=23;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:31:8,23:21:23,0,24:..", + "chr20\t16606\tchr20_16606_G_A\tG\tA\t40\t.\tAF=0.5;AQ=40;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:42:21,21:41:40,0,54:..", + "chr20\t1666\tchr20_1666_G_A\tG\tA\t43\t.\tAF=0.5;AQ=43;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:36:16,20:43:43,0,51:..", + "chr20\t17130\tchr20_17130_G_A\tG\tA\t28\t.\tAF=0.5;AQ=28;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:28:15,13:29:28,0,47:..", + 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"chr7\t2402\tchr7_2402_CAT_C\tCAT\tC\t19\t.\tAF=0.5;AQ=19;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:39:26,13:18:19,0,21:..", + "chr7\t2429\tchr7_2429_ATT_A\tATT\tA\t21\t.\tAF=0.5;AQ=21;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t0/1:34:17,16:20:21,0,24:..", + "chr7\t5369\tchr7_5369_C_A\tC\tA\t48\t.\tAF=1;AQ=48;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:35:1,34:43:48,43,0:..", + "chrX\t13398\tchrX_13398_A_C\tA\tC\t49\t.\tAF=1;AQ=49;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:20:0,20:50:49,99,0:..", + "chrX\t13488\tchrX_13488_A_G\tA\tG\t47\t.\tAF=1;AQ=47;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:16:0,16:47:47,99,0:..", + "chrX\t21981\tchrX_21981_C_T\tC\tT\t45\t.\tAF=1;AQ=45;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:13:0,13:46:45,99,0:..", + "chrX\t24389\tchrX_24389_A_T\tA\tT\t48\t.\tAF=1;AQ=48;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:20:0,20:49:48,99,0:..", + "chrX\t24455\tchrX_24455_TAA_T\tTAA\tT\t24\t.\tAF=1;AQ=24;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:16:0,15:25:24,99,0:..", + "chrX\t25195\tchrX_25195_GC_G\tGC\tG\t22\t.\tAF=1;AQ=22;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:8:0,8:23:22,99,0:..", + "chrX\t25198\tchrX_25198_AAACC_A\tAAACC\tA\t22\t.\tAF=1;AQ=22;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:8:0,8:22:22,99,0:..", + "chrX\t25737\tchrX_25737_AT_A\tAT\tA\t24\t.\tAF=1;AQ=24;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:19:0,19:25:24,99,0:..", + "chrX\t27738\tchrX_27738_GA_G\tGA\tG\t40\t.\tAF=1;AQ=40;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:19:0,19:40:40,99,0:..", + "chrX\t29789\tchrX_29789_C_T\tC\tT\t45\t.\tAF=1;AQ=45;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:14:0,14:46:45,99,0:..", + "chrX\t29963\tchrX_29963_A_G\tA\tG\t49\t.\tAF=1;AQ=49;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:19:0,19:49:49,99,0:..", + "chrX\t30141\tchrX_30141_TATTTA_T\tTATTTA\tT\t24\t.\tAF=1;AQ=24;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:17:2,15:25:24,99,0:..", + "chrX\t30247\tchrX_30247_C_CTTT\tC\tCTTT\t36\t.\tAF=1;AQ=36;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:21:0,20:36:36,99,0:..", + "chrX\t30902\tchrX_30902_A_G\tA\tG\t46\t.\tAF=1;AQ=46;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:14:0,14:46:46,99,0:..", + "chrX\t31437\tchrX_31437_TAA_T\tTAA\tT\t24\t.\tAF=1;AQ=24;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:15:0,14:25:24,99,0:..", + "chrX\t31470\tchrX_31470_C_CAGAGT\tC\tCAGAGT\t24\t.\tAF=1;AQ=24;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:11:0,11:25:24,99,0:..", + "chrX\t31568\tchrX_31568_G_A\tG\tA\t38\t.\tAF=1;AQ=38;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:8:0,8:38:38,99,0:..", + "chrX\t31690\tchrX_31690_C_G\tC\tG\t23\t.\tAF=1;AQ=23;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:10:1,9:24:23,99,0:..", + "chrX\t31720\tchrX_31720_T_A\tT\tA\t23\t.\tAF=1;AQ=23;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:8:0,8:24:23,99,0:..", + "chrX\t32183\tchrX_32183_A_G\tA\tG\t44\t.\tAF=1;AQ=44;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:12:0,12:44:44,99,0:..", + "chrX\t32499\tchrX_32499_G_A\tG\tA\t48\t.\tAF=1;AQ=48;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:18:0,18:48:48,99,0:..", + "chrX\t32722\tchrX_32722_C_T\tC\tT\t41\t.\tAF=1;AQ=41;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:10:0,10:42:41,99,0:..", + "chrX\t33827\tchrX_33827_C_G\tC\tG\t48\t.\tAF=1;AQ=48;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:18:0,18:49:48,99,0:..", + "chrX\t34146\tchrX_34146_A_G\tA\tG\t44\t.\tAF=1;AQ=44;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:14:0,14:45:44,99,0:..", + "chrX\t34816\tchrX_34816_TTTTG_T\tTTTTG\tT\t24\t.\tAF=1;AQ=24;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:8:0,8:24:24,99,0:..", + "chrX\t8295\tchrX_8295_C_CAA\tC\tCAA\t24\t.\tAF=1;AQ=24;FOUND_IN=deepvariant\tGT:DP:AD:GQ:PL:RNC\t1/1:15:2,11:25:24,99,0:.." + ], + "amusingmarmoset_snv_ranked_clinical.vcf.gz": [ + + ], + "amusingmarmoset_snv_ranked_research.vcf.gz": [ + "chr1\t14842\tchr1_14842_C_T\tC\tT\t36\t.\tAF=0.5;AQ=36;Annotation=MIR6859-1,WASH7P;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_15067_CAA_C>-24.0|chr1_16868_C_CT>-22.0|chr1_16894_T_G>-22.0|chr1_17329_C_T>-22.0|chr1_18378_G_C>-22.0|chr1_21213_C_T>-22.0|chr1_22432_C_CT>-22.0|chr1_23232_G_A>-22.0|chr1_24203_C_T>-22.0;CompoundsNormalized=amusingmarmoset:chr1_15067_CAA_C>0.5862068965517242|chr1_16868_C_CT>0.6206896551724138|chr1_16894_T_G>0.6206896551724138|chr1_17329_C_T>0.6206896551724138|chr1_18378_G_C>0.6206896551724138|chr1_21213_C_T>0.6206896551724138|chr1_22432_C_CT>0.6206896551724138|chr1_23232_G_A>0.6206896551724138|chr1_24203_C_T>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.1958;GNOMADAF_grpmax=0.2476;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:34;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:35:18,17:34:36,0,39:..", + "chr1\t15067\tchr1_15067_CA_C;chr1_15067_CAA_C\tCAA\tC\t24\t.\tAF=0.5;AQ=21;Annotation=MIR6859-1,WASH7P;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_14842_C_T>-24.0|chr1_16868_C_CT>-24.0|chr1_16894_T_G>-24.0|chr1_17329_C_T>-24.0|chr1_18378_G_C>-24.0|chr1_21213_C_T>-24.0|chr1_22432_C_CT>-24.0|chr1_23232_G_A>-24.0|chr1_24203_C_T>-24.0;CompoundsNormalized=amusingmarmoset:chr1_14842_C_T>0.5862068965517242|chr1_16868_C_CT>0.5862068965517242|chr1_16894_T_G>0.5862068965517242|chr1_17329_C_T>0.5862068965517242|chr1_18378_G_C>0.5862068965517242|chr1_21213_C_T>0.5862068965517242|chr1_22432_C_CT>0.5862068965517242|chr1_23232_G_A>0.5862068965517242|chr1_24203_C_T>0.5862068965517242;FOUND_IN=deepvariant;GNOMADAF=0.2297;GNOMADAF_grpmax=0.2657;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:19;RankResult=-12|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:-16.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.22413793103448276\tGT:DP:AD:GQ:PL:RNC\t0/1:37:0,14:19:39,36,24:..", + "chr1\t16868\tchr1_16868_C_CT;chr1_16868_CT_C\tC\tCT\t24\t.\tAF=0.5;AQ=24;Annotation=MIR6859-1,WASH7P;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_14842_C_T>-22.0|chr1_15067_CAA_C>-24.0|chr1_16894_T_G>-22.0|chr1_17329_C_T>-22.0|chr1_18378_G_C>-22.0|chr1_21213_C_T>-22.0|chr1_22432_C_CT>-22.0|chr1_23232_G_A>-22.0|chr1_24203_C_T>-22.0;CompoundsNormalized=amusingmarmoset:chr1_14842_C_T>0.6206896551724138|chr1_15067_CAA_C>0.5862068965517242|chr1_16894_T_G>0.6206896551724138|chr1_17329_C_T>0.6206896551724138|chr1_18378_G_C>0.6206896551724138|chr1_21213_C_T>0.6206896551724138|chr1_22432_C_CT>0.6206896551724138|chr1_23232_G_A>0.6206896551724138|chr1_24203_C_T>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.017463;GNOMADAF_grpmax=0.0443;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:21;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t1/0:38:1,24:21:42,35,24:..", + "chr1\t16894\tchr1_16894_T_G\tT\tG\t43\t.\tAF=0.5;AQ=43;Annotation=MIR6859-1,WASH7P;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_14842_C_T>-22.0|chr1_15067_CAA_C>-24.0|chr1_16868_C_CT>-22.0|chr1_17329_C_T>-22.0|chr1_18378_G_C>-22.0|chr1_21213_C_T>-22.0|chr1_22432_C_CT>-22.0|chr1_23232_G_A>-22.0|chr1_24203_C_T>-22.0;CompoundsNormalized=amusingmarmoset:chr1_14842_C_T>0.6206896551724138|chr1_15067_CAA_C>0.5862068965517242|chr1_16868_C_CT>0.6206896551724138|chr1_17329_C_T>0.6206896551724138|chr1_18378_G_C>0.6206896551724138|chr1_21213_C_T>0.6206896551724138|chr1_22432_C_CT>0.6206896551724138|chr1_23232_G_A>0.6206896551724138|chr1_24203_C_T>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.2208;GNOMADAF_grpmax=0.2633;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:43;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:42:17,25:43:43,0,50:..", + "chr1\t17329\tchr1_17329_C_T\tC\tT\t42\t.\tAF=0.5;AQ=42;Annotation=MIR6859-1,WASH7P;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_14842_C_T>-22.0|chr1_15067_CAA_C>-24.0|chr1_16868_C_CT>-22.0|chr1_16894_T_G>-22.0|chr1_18378_G_C>-22.0|chr1_21213_C_T>-22.0|chr1_22432_C_CT>-22.0|chr1_23232_G_A>-22.0|chr1_24203_C_T>-22.0;CompoundsNormalized=amusingmarmoset:chr1_14842_C_T>0.6206896551724138|chr1_15067_CAA_C>0.5862068965517242|chr1_16868_C_CT>0.6206896551724138|chr1_16894_T_G>0.6206896551724138|chr1_18378_G_C>0.6206896551724138|chr1_21213_C_T>0.6206896551724138|chr1_22432_C_CT>0.6206896551724138|chr1_23232_G_A>0.6206896551724138|chr1_24203_C_T>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.2074;GNOMADAF_grpmax=0.2638;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:42;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:33:14,19:42:42,0,53:..", + "chr1\t18378\tchr1_18378_G_C\tG\tC\t44\t.\tAF=0.5;AQ=44;Annotation=WASH7P;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_14842_C_T>-22.0|chr1_15067_CAA_C>-24.0|chr1_16868_C_CT>-22.0|chr1_16894_T_G>-22.0|chr1_17329_C_T>-22.0|chr1_21213_C_T>-22.0|chr1_22432_C_CT>-22.0|chr1_23232_G_A>-22.0|chr1_24203_C_T>-22.0;CompoundsNormalized=amusingmarmoset:chr1_14842_C_T>0.6206896551724138|chr1_15067_CAA_C>0.5862068965517242|chr1_16868_C_CT>0.6206896551724138|chr1_16894_T_G>0.6206896551724138|chr1_17329_C_T>0.6206896551724138|chr1_21213_C_T>0.6206896551724138|chr1_22432_C_CT>0.6206896551724138|chr1_23232_G_A>0.6206896551724138|chr1_24203_C_T>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.2076;GNOMADAF_grpmax=0.2638;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:44;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:39:17,22:44:44,0,53:..", + "chr1\t21213\tchr1_21213_C_T\tC\tT\t41\t.\tAF=0.5;AQ=41;Annotation=WASH7P;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_14842_C_T>-22.0|chr1_15067_CAA_C>-24.0|chr1_16868_C_CT>-22.0|chr1_16894_T_G>-22.0|chr1_17329_C_T>-22.0|chr1_18378_G_C>-22.0|chr1_22432_C_CT>-22.0|chr1_23232_G_A>-22.0|chr1_24203_C_T>-22.0;CompoundsNormalized=amusingmarmoset:chr1_14842_C_T>0.6206896551724138|chr1_15067_CAA_C>0.5862068965517242|chr1_16868_C_CT>0.6206896551724138|chr1_16894_T_G>0.6206896551724138|chr1_17329_C_T>0.6206896551724138|chr1_18378_G_C>0.6206896551724138|chr1_22432_C_CT>0.6206896551724138|chr1_23232_G_A>0.6206896551724138|chr1_24203_C_T>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.1965;GNOMADAF_grpmax=0.2477;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:41;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:48:22,26:41:41,0,53:..", + "chr1\t22432\tchr1_22432_C_CT\tC\tCT\t39\t.\tAF=0.5;AQ=39;Annotation=WASH7P;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_14842_C_T>-22.0|chr1_15067_CAA_C>-24.0|chr1_16868_C_CT>-22.0|chr1_16894_T_G>-22.0|chr1_17329_C_T>-22.0|chr1_18378_G_C>-22.0|chr1_21213_C_T>-22.0|chr1_23232_G_A>-22.0|chr1_24203_C_T>-22.0;CompoundsNormalized=amusingmarmoset:chr1_14842_C_T>0.6206896551724138|chr1_15067_CAA_C>0.5862068965517242|chr1_16868_C_CT>0.6206896551724138|chr1_16894_T_G>0.6206896551724138|chr1_17329_C_T>0.6206896551724138|chr1_18378_G_C>0.6206896551724138|chr1_21213_C_T>0.6206896551724138|chr1_23232_G_A>0.6206896551724138|chr1_24203_C_T>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.2115;GNOMADAF_grpmax=0.2677;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:37;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:38:16,21:37:39,0,40:..", + "chr1\t23232\tchr1_23232_G_A\tG\tA\t41\t.\tAF=0.5;AQ=41;Annotation=WASH7P;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_14842_C_T>-22.0|chr1_15067_CAA_C>-24.0|chr1_16868_C_CT>-22.0|chr1_16894_T_G>-22.0|chr1_17329_C_T>-22.0|chr1_18378_G_C>-22.0|chr1_21213_C_T>-22.0|chr1_22432_C_CT>-22.0|chr1_24203_C_T>-22.0;CompoundsNormalized=amusingmarmoset:chr1_14842_C_T>0.6206896551724138|chr1_15067_CAA_C>0.5862068965517242|chr1_16868_C_CT>0.6206896551724138|chr1_16894_T_G>0.6206896551724138|chr1_17329_C_T>0.6206896551724138|chr1_18378_G_C>0.6206896551724138|chr1_21213_C_T>0.6206896551724138|chr1_22432_C_CT>0.6206896551724138|chr1_24203_C_T>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.1961;GNOMADAF_grpmax=0.2476;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:41;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:40:21,19:41:41,0,53:..", + "chr1\t24203\tchr1_24203_C_T\tC\tT\t33\t.\tAF=0.5;AQ=33;Annotation=WASH7P;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_14842_C_T>-22.0|chr1_15067_CAA_C>-24.0|chr1_16868_C_CT>-22.0|chr1_16894_T_G>-22.0|chr1_17329_C_T>-22.0|chr1_18378_G_C>-22.0|chr1_21213_C_T>-22.0|chr1_22432_C_CT>-22.0|chr1_23232_G_A>-22.0;CompoundsNormalized=amusingmarmoset:chr1_14842_C_T>0.6206896551724138|chr1_15067_CAA_C>0.5862068965517242|chr1_16868_C_CT>0.6206896551724138|chr1_16894_T_G>0.6206896551724138|chr1_17329_C_T>0.6206896551724138|chr1_18378_G_C>0.6206896551724138|chr1_21213_C_T>0.6206896551724138|chr1_22432_C_CT>0.6206896551724138|chr1_23232_G_A>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.0283;GNOMADAF_grpmax=0.0402;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:33;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:30:16,14:33:33,0,42:..", + "chr1\t30122\tchr1_30122_C_CT;chr1_30122_C_CTT\tC\tCTT\t23\t.\tAF=0.5;AQ=22;Annotation=MIR1302-2;CSQ=TT|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_30881_G_A>-24.0;CompoundsNormalized=amusingmarmoset:chr1_30881_G_A>0.5862068965517242;FOUND_IN=deepvariant;GNOMADAF=0.011286;GNOMADAF_grpmax=0.0258;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:19;RankResult=-12|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:-16.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.22413793103448276\tGT:DP:AD:GQ:PL:RNC\t0/1:44:1,16:19:36,30,23:..", + "chr1\t30881\tchr1_30881_G_A\tG\tA\t43\t.\tAF=0.5;AQ=43;Annotation=FAM138A,MIR1302-2;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_30122_C_CTT>-24.0|chr1_32617_ATGT_A>-22.0|chr1_32796_A_G>-22.0;CompoundsNormalized=amusingmarmoset:chr1_30122_C_CTT>0.5862068965517242|chr1_32617_ATGT_A>0.6206896551724138|chr1_32796_A_G>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.2359;GNOMADAF_grpmax=0.261;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:43;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:40:18,22:43:43,0,56:..", + "chr1\t32617\tchr1_32617_ATGT_A\tATGT\tA\t24\t.\tAF=0.5;AQ=24;Annotation=FAM138A;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_30881_G_A>-22.0|chr1_32796_A_G>-22.0;CompoundsNormalized=amusingmarmoset:chr1_30881_G_A>0.6206896551724138|chr1_32796_A_G>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.2664;GNOMADAF_grpmax=0.3221;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:22;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:20:6,13:22:24,0,24:..", + "chr1\t32796\tchr1_32796_A_G\tA\tG\t34\t.\tAF=0.5;AQ=34;Annotation=FAM138A;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr1_30881_G_A>-22.0|chr1_32617_ATGT_A>-22.0;CompoundsNormalized=amusingmarmoset:chr1_30881_G_A>0.6206896551724138|chr1_32617_ATGT_A>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.2363;GNOMADAF_grpmax=0.2657;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:35;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:31:16,14:35:34,0,53:..", + "chr1\t3817\tchr1_3817_A_G\tA\tG\t42\t.\tAF=0.5;AQ=42;CSQ=G|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||3412|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||,G|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||3422|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2116;GNOMADAF_grpmax=0.2668;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:42;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:50:24,26:42:42,0,56:..", + "chr1\t3942\tchr1_3942_T_C\tT\tC\t35\t.\tAF=0.5;AQ=35;CSQ=C|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||3537|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||,C|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||3547|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2115;GNOMADAF_grpmax=0.2668;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:36;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:45:28,17:36:35,0,54:..", + "chr1\t4460\tchr1_4460_G_A\tG\tA\t44\t.\tAF=0.5;AQ=44;CSQ=A|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||4055|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||,A|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||4065|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2115;GNOMADAF_grpmax=0.2668;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:43;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:34:11,23:43:44,0,48:..", + "chr1\t4717\tchr1_4717_CCAAAG_C\tCCAAAG\tC\t10\t.\tAF=1;AQ=10;CSQ=-|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||4313|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||,-|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||4323|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AR_hom;ModelScore=amusingmarmoset:10;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t1/1:35:9,26:10:10,21,0:..", + "chr1\t4724\tchr1_4724_GC_G\tGC\tG\t2\t.\tAF=1;AQ=2;CSQ=-|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||4320|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||,-|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||4330|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AR_hom;ModelScore=amusingmarmoset:5;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t1/1:36:10,25:5:2,18,0:..", + "chr1\t5390\tchr1_5390_G_GT;chr1_5390_G_GTGTGTGTGT\tG\tGTGTGTGTGT\t20\t.\tAF=0.5;AQ=20;CSQ=TGTGTGTGT|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||4985|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||,TGTGTGTGT|upstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||4995|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0068456;GNOMADAF_grpmax=0.0093608;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:15;RankResult=1|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:44:1,33:15:20,22,22:..", + "chr1\t5918\tchr1_5918_C_T\tC\tT\t40\t.\tAF=0.5;AQ=40;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.178;GNOMADAF_grpmax=0.2519;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:40;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414\tGT:DP:AD:GQ:PL:RNC\t0/1:35:15,20:40:40,0,51:..", + "chr1\t63\tchr1_63_C_T\tC\tT\t36\t.\tAF=0.5;AQ=36;CSQ=T|downstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000370331|protein_coding|||||||||||282|-1|||||1|||ENSP00000359356|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01|-15|5|32|40|0.00|0.00|0.00|0.00|EVI5|,T|downstream_gene_variant|MODIFIER|EVI5|ENSG00000067208|Transcript|ENST00000540033|protein_coding|||||||||||282|-1|||||1|||ENSP00000440826|||||minimal_reference.sorted.gtf.gz||||||||||0.975|0.01|-15|5|32|40|0.00|0.00|0.00|0.00|EVI5|;FOUND_IN=deepvariant;GNOMADAF=0.2072;GNOMADAF_grpmax=0.2618;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:36;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:36:19,17:36:36,0,55:..", + "chr1\t8216\tchr1_8216_CT_C\tCT\tC\t4\t.\tAF=0.5;AQ=4;Annotation=DDX11L1;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:5;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:29:19,3:5:4,0,7:..", + "chr12\t10044\tchr12_10044_T_TA\tT\tTA\t39\t.\tAF=0.5;AQ=39;Annotation=DDX11L8;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-5508_1072-5507insT|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-19|-16|31|-37|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-5508_461-5507insT|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-19|-16|31|-37|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-5508_461-5507insT|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-19|-16|31|-37|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_11358_A_G>-22.0|chr12_12565_CA_C>-22.0|chr12_12733_G_A>-22.0|chr12_8494_G_A>-22.0|chr12_8889_C_T>-22.0|chr12_9001_CAA_C>-22.0|chr12_9704_G_A>-22.0|chr12_9915_A_G>-22.0;CompoundsNormalized=amusingmarmoset:chr12_11358_A_G>0.6206896551724138|chr12_12565_CA_C>0.6206896551724138|chr12_12733_G_A>0.6206896551724138|chr12_8494_G_A>0.6206896551724138|chr12_8889_C_T>0.6206896551724138|chr12_9001_CAA_C>0.6206896551724138|chr12_9704_G_A>0.6206896551724138|chr12_9915_A_G>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.4564;GNOMADAF_grpmax=0.6543;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:37;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:46:20,26:37:39,0,39:..", + "chr12\t11358\tchr12_11358_A_G\tA\tG\t37\t.\tAF=0.5;AQ=37;Annotation=DDX11L8;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-6821T>C|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|-36|-13|-3|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-6821T>C|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|-36|-13|-3|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-6821T>C|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|-36|-13|-3|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_10044_T_TA>-22.0|chr12_12565_CA_C>-22.0|chr12_12733_G_A>-22.0|chr12_8494_G_A>-22.0|chr12_8889_C_T>-22.0|chr12_9001_CAA_C>-22.0|chr12_9704_G_A>-22.0|chr12_9915_A_G>-22.0;CompoundsNormalized=amusingmarmoset:chr12_10044_T_TA>0.6206896551724138|chr12_12565_CA_C>0.6206896551724138|chr12_12733_G_A>0.6206896551724138|chr12_8494_G_A>0.6206896551724138|chr12_8889_C_T>0.6206896551724138|chr12_9001_CAA_C>0.6206896551724138|chr12_9704_G_A>0.6206896551724138|chr12_9915_A_G>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.3003;GNOMADAF_grpmax=0.4903;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:37;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:39:23,16:37:37,0,55:..", + "chr12\t12565\tchr12_12565_CA_C\tCA\tC\t35\t.\tAF=0.5;AQ=35;Annotation=DDX11L8;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+5793del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-4|-8|-29|2|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-8029del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-4|-8|-29|2|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-8029del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-4|-8|-29|2|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_10044_T_TA>-22.0|chr12_11358_A_G>-22.0|chr12_12733_G_A>-22.0|chr12_8494_G_A>-22.0|chr12_8889_C_T>-22.0|chr12_9001_CAA_C>-22.0|chr12_9704_G_A>-22.0|chr12_9915_A_G>-22.0;CompoundsNormalized=amusingmarmoset:chr12_10044_T_TA>0.6206896551724138|chr12_11358_A_G>0.6206896551724138|chr12_12733_G_A>0.6206896551724138|chr12_8494_G_A>0.6206896551724138|chr12_8889_C_T>0.6206896551724138|chr12_9001_CAA_C>0.6206896551724138|chr12_9704_G_A>0.6206896551724138|chr12_9915_A_G>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.1869;GNOMADAF_grpmax=0.221;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:35;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:35:18,16:35:35,0,43:..", + "chr12\t12733\tchr12_12733_G_A\tG\tA\t42\t.\tAF=0.5;AQ=42;Annotation=DDX11L8;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+5626C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|17|45|17|-8|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-8196C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|17|45|17|-8|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-8196C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|17|45|17|-8|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_10044_T_TA>-22.0|chr12_11358_A_G>-22.0|chr12_12565_CA_C>-22.0|chr12_8494_G_A>-22.0|chr12_8889_C_T>-22.0|chr12_9001_CAA_C>-22.0|chr12_9704_G_A>-22.0|chr12_9915_A_G>-22.0;CompoundsNormalized=amusingmarmoset:chr12_10044_T_TA>0.6206896551724138|chr12_11358_A_G>0.6206896551724138|chr12_12565_CA_C>0.6206896551724138|chr12_8494_G_A>0.6206896551724138|chr12_8889_C_T>0.6206896551724138|chr12_9001_CAA_C>0.6206896551724138|chr12_9704_G_A>0.6206896551724138|chr12_9915_A_G>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.195;GNOMADAF_grpmax=0.2229;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:42;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:37:17,20:42:42,0,53:..", + "chr12\t14142\tchr12_14142_CAACA_C\tCAACA\tC\t24\t.\tAF=0.5;AQ=24;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+4213_1071+4216del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-9|-33|-9|-33|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-9609_461-9606del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-9|-33|-9|-33|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-9609_461-9606del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-9|-33|-9|-33|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.4282;GNOMADAF_grpmax=0.6278;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:22;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:34:14,20:22:24,0,24:..", + "chr12\t14559\tchr12_14559_C_T\tC\tT\t39\t.\tAF=0.5;AQ=39;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+3800G>A|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|2|-2|40|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-10022G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|2|-2|40|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-10022G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|2|-2|40|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1781;GNOMADAF_grpmax=0.2083;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:39;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:51:25,26:39:39,0,52:..", + "chr12\t15123\tchr12_15123_A_G\tA\tG\t39\t.\tAF=0.5;AQ=39;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+3236T>C|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|18|-18|-9|24|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-10586T>C|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|18|-18|-9|24|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-10586T>C|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|18|-18|-9|24|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.3082;GNOMADAF_grpmax=0.5581;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:39;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:40:20,20:39:39,0,55:..", + "chr12\t15500\tchr12_15500_G_A\tG\tA\t14\t.\tAF=0.5;AQ=14;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||4776|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+2859C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|15|2|-4|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-10963C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|15|2|-4|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-10963C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|15|2|-4|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:14;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:12:10,2:14:14,0,24:..", + "chr12\t1598\tchr12_1598_G_A\tG\tA\t39\t.\tAF=0.5;AQ=39;CSQ=A|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||1947|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-41|24|2|-12|0.00|0.00|0.00|0.00|RILPL1|,A|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||1947|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-41|24|2|-12|0.00|0.00|0.00|0.00|RILPL1|,A|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||1947|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-41|24|2|-12|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2182;GNOMADAF_grpmax=0.2668;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:39;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:33:18,15:39:39,0,56:..", + "chr12\t16686\tchr12_16686_GGT_G\tGGT\tG\t22\t.\tAF=0.5;AQ=22;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||3588|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+1671_1071+1672del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-47|21|-33|-40|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+11808_460+11809del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-47|21|-33|-40|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+11808_460+11809del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-47|21|-33|-40|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1335;GNOMADAF_grpmax=0.1786;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:20;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:20:12,7:20:22,0,24:..", 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"chr12\t16999\tchr12_16999_G_T\tG\tT\t15\t.\tAF=0.5;AQ=15;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||3277|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+1360C>A|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|-9|3|-34|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+11497C>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|-9|3|-34|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+11497C>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|-9|3|-34|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.0061784;GNOMADAF_grpmax=0.0094871;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:15;RankResult=1|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:26:18,8:15:15,0,23:..", 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"chr12\t17074\tchr12_17074_CTGTG_C\tCTGTG\tC\t5\t.\tAF=0.5;AQ=5;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||3198|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+1281_1071+1284del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|8|24|48|47|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+11418_460+11421del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|8|24|48|47|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+11418_460+11421del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|8|24|48|47|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.236;GNOMADAF_grpmax=0.2717;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:7;RankResult=-12|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:-13.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.27586206896551724;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:28:21,5:7:5,0,22:..", 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"chr12\t17915\tchr12_17915_G_GTC\tG\tGTC\t23\t.\tAF=0.5;AQ=23;CSQ=TC|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||2360|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,TC|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+443_1071+444insGA|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,TC|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+10580_460+10581insGA|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,TC|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+10580_460+10581insGA|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2827;GNOMADAF_grpmax=0.5294;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:23:10,10:21:23,0,24:..", 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"chr12\t18224\tchr12_18224_T_G\tT\tG\t40\t.\tAF=0.5;AQ=40;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||2052|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1071+135A>C|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|1|16|-3|8|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+10272A>C|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|1|16|-3|8|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+10272A>C|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|1|16|-3|8|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1701;GNOMADAF_grpmax=0.2079;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:40;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:31:18,13:40:40,0,58:..", + "chr12\t1934\tchr12_1934_C_T\tC\tT\t38\t.\tAF=0.5;AQ=38;CSQ=T|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||1611|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-13|-49|-13|-49|0.00|0.00|0.00|0.00|RILPL1|,T|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||1611|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-13|-49|-13|-49|0.00|0.00|0.00|0.00|RILPL1|,T|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||1611|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-13|-49|-13|-49|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1975;GNOMADAF_grpmax=0.2116;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:39;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:28:15,13:39:38,0,54:..", + "chr12\t19440\tchr12_19440_A_T\tA\tT\t36\t.\tAF=0.5;AQ=36;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||836|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||4951|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+9056T>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|-24|-2|23|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+9056T>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|-24|-2|23|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||11|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|-24|-2|23|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2953;GNOMADAF_grpmax=0.4844;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:37;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:30:14,15:37:36,0,49:..", + "chr12\t21105\tchr12_21105_G_A\tG\tA\t47\t.\tAF=0.5;AQ=47;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||3286|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+7391C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-7|-46|47|-5|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+7391C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-7|-46|47|-5|0.00|0.00|0.00|0.00|RILPL1|,A|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||1676|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-7|-46|47|-5|0.00|0.00|0.00|0.00|RILPL1|,A|upstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||591|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1733;GNOMADAF_grpmax=0.2097;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:47;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:34:15,19:47:47,0,57:..", + "chr12\t22205\tchr12_22205_G_A\tG\tA\t38\t.\tAF=0.5;AQ=38;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||2186|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+6291C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-32|40|3|-30|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+6291C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-32|40|3|-30|0.00|0.00|0.00|0.00|RILPL1|,A|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||2776|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-32|40|3|-30|0.00|0.00|0.00|0.00|RILPL1|,A|upstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||1691|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1672;GNOMADAF_grpmax=0.2104;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:38;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:40:22,18:38:38,0,55:..", + "chr12\t22425\tchr12_22425_GTTT_G\tGTTT\tG\t16\t.\tAF=0.5;AQ=16;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||1963|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.460+6068_460+6070del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|1|-44|10|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.460+6068_460+6070del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|1|-44|10|0.00|0.00|0.00|0.00|RILPL1|,-|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||2997|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|41|1|-44|10|0.00|0.00|0.00|0.00|RILPL1|,-|upstream_gene_variant|MODIFIER||ENSG00000274427|Transcript|ENST00000610631|lncRNA|||||||||||1912|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3065;GNOMADAF_grpmax=0.378;GeneticModels=amusingmarmoset:AD;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t./1:35:.,15:.:0,0,0:O.", 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"chr12\t263\tchr12_263_C_T\tC\tT\t41\t.\tAF=0.5;AQ=41;CSQ=T|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||3282|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-45|49|-10|50|0.00|0.00|0.00|0.00|RILPL1|,T|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3282|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-45|49|-10|50|0.00|0.00|0.00|0.00|RILPL1|,T|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3282|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-45|49|-10|50|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1842;GNOMADAF_grpmax=0.2116;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:41;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:49:23,26:41:41,0,51:..", 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"chr12\t28913\tchr12_28913_C_T\tC\tT\t40\t.\tAF=0.5;AQ=40;CSQ=T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.310-267G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-32|-8|-2|-46|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.310-267G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-32|-8|-2|-46|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER||ENSG00000278112|Transcript|ENST00000615987|lncRNA|||||||||||4056|-1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1702;GNOMADAF_grpmax=0.205;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:40;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:41:22,19:40:40,0,53:..", 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"chr12\t30701\tchr12_30701_C_CAAAAAAA\tC\tCAAAAAAA\t8\t.\tAF=0.5;AQ=8;CSQ=AAAAAAA|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.310-2062_310-2056dup|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,AAAAAAA|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.310-2062_310-2056dup|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:9;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:38:28,4:9:8,0,23:..", + "chr12\t30921\tchr12_30921_AAAAC_A\tAAAAC\tA\t34\t.\tAF=0.5;AQ=34;CSQ=-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.310-2279_310-2276del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-16|-25|12|37|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.310-2279_310-2276del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-16|-25|12|37|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2515;GNOMADAF_grpmax=0.3512;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:33;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:34:14,20:33:34,0,37:..", + "chr12\t31707\tchr12_31707_G_A\tG\tA\t41\t.\tAF=0.5;AQ=41;CSQ=A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.310-3061C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-16|12|13|-34|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.310-3061C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-16|12|13|-34|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1725;GNOMADAF_grpmax=0.2048;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:41;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:43:18,25:41:41,0,50:..", + "chr12\t32121\tchr12_32121_T_C\tT\tC\t41\t.\tAF=0.5;AQ=41;CSQ=C|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.310-3475A>G|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|43|-2|-49|-2|0.00|0.00|0.00|0.00|RILPL1|,C|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.310-3475A>G|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|43|-2|-49|-2|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1729;GNOMADAF_grpmax=0.2052;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:41;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:41:16,25:41:41,0,49:..", + "chr12\t32701\tchr12_32701_A_T\tA\tT\t29\t.\tAF=0.5;AQ=29;Annotation=FAM138D;CSQ=T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.310-4055T>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-41|43|15|5|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.310-4055T>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-41|43|15|5|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_33424_G_A>-22.0|chr12_33553_G_C>-22.0|chr12_33703_A_G>-22.0|chr12_34874_C_CA>-22.0|chr12_36116_GA_G>-22.0|chr12_37218_C_T>-22.0|chr12_37704_T_TGGGG>-8.0|chr12_37708_G_A>-22.0|chr12_37755_T_TG>-21.0|chr12_37856_C_T>-9.0;CompoundsNormalized=amusingmarmoset:chr12_33424_G_A>0.6206896551724138|chr12_33553_G_C>0.6206896551724138|chr12_33703_A_G>0.6206896551724138|chr12_34874_C_CA>0.6206896551724138|chr12_36116_GA_G>0.6206896551724138|chr12_37218_C_T>0.6206896551724138|chr12_37704_T_TGGGG>0.8620689655172413|chr12_37708_G_A>0.6206896551724138|chr12_37755_T_TG>0.6379310344827587|chr12_37856_C_T>0.8448275862068966;FOUND_IN=deepvariant;GNOMADAF=0.1727;GNOMADAF_grpmax=0.205;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:29;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:41:24,17:29:29,0,50:..", + "chr12\t3340\tchr12_3340_CCAGG_C\tCCAGG\tC\t32\t.\tAF=0.5;AQ=32;CSQ=-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||201|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|42|-5|42|50|0.00|0.00|0.00|0.00|RILPL1|,-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||201|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|42|-5|42|50|0.00|0.00|0.00|0.00|RILPL1|,-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||201|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|42|-5|42|50|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.4487;GNOMADAF_grpmax=0.6326;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:31;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:47:22,25:31:32,0,36:..", + "chr12\t33424\tchr12_33424_G_A\tG\tA\t34\t.\tAF=0.5;AQ=34;Annotation=FAM138D;CSQ=A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+4751C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-39|-36|38|12|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+4751C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-39|-36|38|12|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_32701_A_T>-22.0|chr12_33553_G_C>-22.0|chr12_33703_A_G>-22.0|chr12_34874_C_CA>-22.0|chr12_36116_GA_G>-22.0|chr12_37218_C_T>-22.0|chr12_37704_T_TGGGG>-8.0|chr12_37708_G_A>-22.0|chr12_37755_T_TG>-21.0|chr12_37856_C_T>-9.0;CompoundsNormalized=amusingmarmoset:chr12_32701_A_T>0.6206896551724138|chr12_33553_G_C>0.6206896551724138|chr12_33703_A_G>0.6206896551724138|chr12_34874_C_CA>0.6206896551724138|chr12_36116_GA_G>0.6206896551724138|chr12_37218_C_T>0.6206896551724138|chr12_37704_T_TGGGG>0.8620689655172413|chr12_37708_G_A>0.6206896551724138|chr12_37755_T_TG>0.6379310344827587|chr12_37856_C_T>0.8448275862068966;FOUND_IN=deepvariant;GNOMADAF=0.1954;GNOMADAF_grpmax=0.2258;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:33;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:34:15,18:33:34,0,39:..", + "chr12\t33553\tchr12_33553_G_C\tG\tC\t33\t.\tAF=0.5;AQ=33;Annotation=FAM138D;CSQ=C|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+4622C>G|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|24|38|37|-48|0.00|0.00|0.00|0.00|RILPL1|,C|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+4622C>G|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|24|38|37|-48|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_32701_A_T>-22.0|chr12_33424_G_A>-22.0|chr12_33703_A_G>-22.0|chr12_34874_C_CA>-22.0|chr12_36116_GA_G>-22.0|chr12_37218_C_T>-22.0|chr12_37704_T_TGGGG>-8.0|chr12_37708_G_A>-22.0|chr12_37755_T_TG>-21.0|chr12_37856_C_T>-9.0;CompoundsNormalized=amusingmarmoset:chr12_32701_A_T>0.6206896551724138|chr12_33424_G_A>0.6206896551724138|chr12_33703_A_G>0.6206896551724138|chr12_34874_C_CA>0.6206896551724138|chr12_36116_GA_G>0.6206896551724138|chr12_37218_C_T>0.6206896551724138|chr12_37704_T_TGGGG>0.8620689655172413|chr12_37708_G_A>0.6206896551724138|chr12_37755_T_TG>0.6379310344827587|chr12_37856_C_T>0.8448275862068966;FOUND_IN=deepvariant;GNOMADAF=0.1734;GNOMADAF_grpmax=0.2055;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:33;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:34:12,22:33:33,0,40:..", + "chr12\t33703\tchr12_33703_A_G\tA\tG\t31\t.\tAF=0.5;AQ=31;Annotation=FAM138D;CSQ=G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+4472T>C|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|-11|0|-42|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+4472T>C|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|-11|0|-42|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_32701_A_T>-22.0|chr12_33424_G_A>-22.0|chr12_33553_G_C>-22.0|chr12_34874_C_CA>-22.0|chr12_36116_GA_G>-22.0|chr12_37218_C_T>-22.0|chr12_37704_T_TGGGG>-8.0|chr12_37708_G_A>-22.0|chr12_37755_T_TG>-21.0|chr12_37856_C_T>-9.0;CompoundsNormalized=amusingmarmoset:chr12_32701_A_T>0.6206896551724138|chr12_33424_G_A>0.6206896551724138|chr12_33553_G_C>0.6206896551724138|chr12_34874_C_CA>0.6206896551724138|chr12_36116_GA_G>0.6206896551724138|chr12_37218_C_T>0.6206896551724138|chr12_37704_T_TGGGG>0.8620689655172413|chr12_37708_G_A>0.6206896551724138|chr12_37755_T_TG>0.6379310344827587|chr12_37856_C_T>0.8448275862068966;FOUND_IN=deepvariant;GNOMADAF=0.1728;GNOMADAF_grpmax=0.205;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:32;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:29:16,13:32:31,0,50:..", + "chr12\t34874\tchr12_34874_C_CA;chr12_34874_C_CAAAA\tC\tCA\t24\t.\tAF=0.5;AQ=24;Annotation=FAM138D;CSQ=A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+3300dup|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-8|-4|1|-8|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+3300dup|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-8|-4|1|-8|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_32701_A_T>-22.0|chr12_33424_G_A>-22.0|chr12_33553_G_C>-22.0|chr12_33703_A_G>-22.0|chr12_36116_GA_G>-22.0|chr12_37218_C_T>-22.0|chr12_37704_T_TGGGG>-8.0|chr12_37708_G_A>-22.0|chr12_37755_T_TG>-21.0|chr12_37856_C_T>-9.0;CompoundsNormalized=amusingmarmoset:chr12_32701_A_T>0.6206896551724138|chr12_33424_G_A>0.6206896551724138|chr12_33553_G_C>0.6206896551724138|chr12_33703_A_G>0.6206896551724138|chr12_36116_GA_G>0.6206896551724138|chr12_37218_C_T>0.6206896551724138|chr12_37704_T_TGGGG>0.8620689655172413|chr12_37708_G_A>0.6206896551724138|chr12_37755_T_TG>0.6379310344827587|chr12_37856_C_T>0.8448275862068966;FOUND_IN=deepvariant;GNOMADAF=0.1885;GNOMADAF_grpmax=0.213;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:20;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t1/0:31:1,16:20:34,29,24:..", + "chr12\t36116\tchr12_36116_GA_G\tGA\tG\t29\t.\tAF=0.5;AQ=29;Annotation=FAM138D;CSQ=-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+2058del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-18|-8|-27|-29|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+2058del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-18|-8|-27|-29|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_32701_A_T>-22.0|chr12_33424_G_A>-22.0|chr12_33553_G_C>-22.0|chr12_33703_A_G>-22.0|chr12_34874_C_CA>-22.0|chr12_37218_C_T>-22.0|chr12_37704_T_TGGGG>-8.0|chr12_37708_G_A>-22.0|chr12_37755_T_TG>-21.0|chr12_37856_C_T>-9.0;CompoundsNormalized=amusingmarmoset:chr12_32701_A_T>0.6206896551724138|chr12_33424_G_A>0.6206896551724138|chr12_33553_G_C>0.6206896551724138|chr12_33703_A_G>0.6206896551724138|chr12_34874_C_CA>0.6206896551724138|chr12_37218_C_T>0.6206896551724138|chr12_37704_T_TGGGG>0.8620689655172413|chr12_37708_G_A>0.6206896551724138|chr12_37755_T_TG>0.6379310344827587|chr12_37856_C_T>0.8448275862068966;FOUND_IN=deepvariant;GNOMADAF=0.1902;GNOMADAF_grpmax=0.2123;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:30;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:41:23,17:30:29,0,64:..", + "chr12\t37218\tchr12_37218_C_T\tC\tT\t39\t.\tAF=0.5;AQ=39;Annotation=FAM138D;CSQ=T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+957G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|0|-25|39|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+957G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|0|-25|39|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||4192|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chr12_32701_A_T>-22.0|chr12_33424_G_A>-22.0|chr12_33553_G_C>-22.0|chr12_33703_A_G>-22.0|chr12_34874_C_CA>-22.0|chr12_36116_GA_G>-22.0|chr12_37704_T_TGGGG>-8.0|chr12_37708_G_A>-22.0|chr12_37755_T_TG>-21.0|chr12_37856_C_T>-9.0;CompoundsNormalized=amusingmarmoset:chr12_32701_A_T>0.6206896551724138|chr12_33424_G_A>0.6206896551724138|chr12_33553_G_C>0.6206896551724138|chr12_33703_A_G>0.6206896551724138|chr12_34874_C_CA>0.6206896551724138|chr12_36116_GA_G>0.6206896551724138|chr12_37704_T_TGGGG>0.8620689655172413|chr12_37708_G_A>0.6206896551724138|chr12_37755_T_TG>0.6379310344827587|chr12_37856_C_T>0.8448275862068966;FOUND_IN=deepvariant;GNOMADAF=0.0353;GNOMADAF_grpmax=0.0644;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:40;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:36:21,15:40:39,0,63:..", + "chr12\t376\tchr12_376_AT_A\tAT\tA\t15\t.\tAF=0.5;AQ=15;CSQ=-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||3168|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-46|40|-34|32|0.00|0.00|0.00|0.00|RILPL1|,-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3168|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-46|40|-34|32|0.00|0.00|0.00|0.00|RILPL1|,-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3168|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-46|40|-34|32|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2024;GNOMADAF_grpmax=0.2348;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:15;RankResult=-12|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:-10.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3275862068965517;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:34:20,12:15:15,0,24:..", + "chr12\t37704\tchr12_37704_T_TGGGG\tT\tTGGGG\t16\t.\tAF=0.5;AQ=16;Annotation=FAM138D;CSQ=GGGG|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+467_309+470dup|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,GGGG|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+467_309+470dup|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,GGGG|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||3705|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chr12_32701_A_T>-8.0|chr12_33424_G_A>-8.0|chr12_33553_G_C>-8.0|chr12_33703_A_G>-8.0|chr12_34874_C_CA>-8.0|chr12_36116_GA_G>-8.0|chr12_37218_C_T>-8.0|chr12_37708_G_A>-8.0|chr12_37755_T_TG>-7.0|chr12_37856_C_T>5.0;CompoundsNormalized=amusingmarmoset:chr12_32701_A_T>0.8620689655172413|chr12_33424_G_A>0.8620689655172413|chr12_33553_G_C>0.8620689655172413|chr12_33703_A_G>0.8620689655172413|chr12_34874_C_CA>0.8620689655172413|chr12_36116_GA_G>0.8620689655172413|chr12_37218_C_T>0.8620689655172413|chr12_37708_G_A>0.8620689655172413|chr12_37755_T_TG>0.8793103448275862|chr12_37856_C_T>1.0862068965517242;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:16;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:0.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:30:26,4:16:16,0,24:..", + "chr12\t37708\tchr12_37708_G_A\tG\tA\t29\t.\tAF=0.5;AQ=29;Annotation=FAM138D;CSQ=A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+467C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|-6|-26|30|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+467C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|-6|-26|30|0.00|0.00|0.00|0.00|RILPL1|,A|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||3702|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chr12_32701_A_T>-22.0|chr12_33424_G_A>-22.0|chr12_33553_G_C>-22.0|chr12_33703_A_G>-22.0|chr12_34874_C_CA>-22.0|chr12_36116_GA_G>-22.0|chr12_37218_C_T>-22.0|chr12_37704_T_TGGGG>-8.0|chr12_37755_T_TG>-21.0|chr12_37856_C_T>-9.0;CompoundsNormalized=amusingmarmoset:chr12_32701_A_T>0.6206896551724138|chr12_33424_G_A>0.6206896551724138|chr12_33553_G_C>0.6206896551724138|chr12_33703_A_G>0.6206896551724138|chr12_34874_C_CA>0.6206896551724138|chr12_36116_GA_G>0.6206896551724138|chr12_37218_C_T>0.6206896551724138|chr12_37704_T_TGGGG>0.8620689655172413|chr12_37755_T_TG>0.6379310344827587|chr12_37856_C_T>0.8448275862068966;FOUND_IN=deepvariant;GNOMADAF=0.2315;GNOMADAF_grpmax=0.3095;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:27;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:29:10,19:27:29,0,30:..", + "chr12\t37755\tchr12_37755_T_TG\tT\tTG\t36\t.\tAF=0.5;AQ=36;Annotation=FAM138D;CSQ=G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+419dup|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-19|33|6|-18|0.00|0.03|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+419dup|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-19|33|6|-18|0.00|0.03|0.00|0.00|RILPL1|,G|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||3654|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chr12_32701_A_T>-21.0|chr12_33424_G_A>-21.0|chr12_33553_G_C>-21.0|chr12_33703_A_G>-21.0|chr12_34874_C_CA>-21.0|chr12_36116_GA_G>-21.0|chr12_37218_C_T>-21.0|chr12_37704_T_TGGGG>-7.0|chr12_37708_G_A>-21.0|chr12_37856_C_T>-8.0;CompoundsNormalized=amusingmarmoset:chr12_32701_A_T>0.6379310344827587|chr12_33424_G_A>0.6379310344827587|chr12_33553_G_C>0.6379310344827587|chr12_33703_A_G>0.6379310344827587|chr12_34874_C_CA>0.6379310344827587|chr12_36116_GA_G>0.6379310344827587|chr12_37218_C_T>0.6379310344827587|chr12_37704_T_TGGGG>0.8793103448275862|chr12_37708_G_A>0.6379310344827587|chr12_37856_C_T>0.8620689655172413;FOUND_IN=deepvariant;GNOMADAF=0.2543;GNOMADAF_grpmax=0.4108;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:35;RankResult=-12|0|0|1|0|0|3|0|0|1;RankScore=amusingmarmoset:-13.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.27586206896551724;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:35:16,19:35:36,0,43:..", + "chr12\t37856\tchr12_37856_C_T\tC\tT\t41\t.\tAF=0.5;AQ=41;Annotation=FAM138D;CSQ=T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||1/3|ENST00000376874.9:c.309+319G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|0|-40|-34|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||1/3|ENST00000636882.1:c.309+319G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|0|-40|-34|0.00|0.00|0.00|0.00|RILPL1|,T|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||3554|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;Compounds=amusingmarmoset:chr12_32701_A_T>-9.0|chr12_33424_G_A>-9.0|chr12_33553_G_C>-9.0|chr12_33703_A_G>-9.0|chr12_34874_C_CA>-9.0|chr12_36116_GA_G>-9.0|chr12_37218_C_T>-9.0|chr12_37704_T_TGGGG>5.0|chr12_37708_G_A>-9.0|chr12_37755_T_TG>-8.0;CompoundsNormalized=amusingmarmoset:chr12_32701_A_T>0.8448275862068966|chr12_33424_G_A>0.8448275862068966|chr12_33553_G_C>0.8448275862068966|chr12_33703_A_G>0.8448275862068966|chr12_34874_C_CA>0.8448275862068966|chr12_36116_GA_G>0.8448275862068966|chr12_37218_C_T>0.8448275862068966|chr12_37704_T_TGGGG>1.0862068965517242|chr12_37708_G_A>0.8448275862068966|chr12_37755_T_TG>0.8620689655172413;FOUND_IN=deepvariant;GNOMADAF=0.0030044;GNOMADAF_grpmax=0.013935;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:41;RankResult=1|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-1.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.48275862068965514;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:40:20,20:41:41,0,55:..", + "chr12\t38304\tchr12_38304_G_C\tG\tC\t43\t.\tAF=0.5;AQ=43;CSQ=C|synonymous_variant|LOW|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|1/4||ENST00000376874.9:c.180C>G|ENSP00000366070.1:p.Val60%3D|417|180|60|V|gtC/gtG|||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|47|11|12|-15|0.00|0.00|0.00|0.00|RILPL1|,C|synonymous_variant|LOW|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|1/4||ENST00000636882.1:c.180C>G|ENSP00000490668.1:p.Val60%3D|416|180|60|V|gtC/gtG|||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|47|11|12|-15|0.00|0.00|0.00|0.00|RILPL1|,C|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||3106|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1672;GNOMADAF_grpmax=0.1984;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:43;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:27:12,15:43:43,0,53:..", + "chr12\t38598\tchr12_38598_G_C\tG\tC\t43\t.\tAF=0.5;AQ=43;CSQ=C|5_prime_UTR_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|1/4||ENST00000376874.9:c.-115C>G||123|||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-7|-27|0|22|0.00|0.00|0.00|0.00|RILPL1|,C|5_prime_UTR_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|1/4||ENST00000636882.1:c.-115C>G||122|||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-7|-27|0|22|0.00|0.00|0.00|0.00|RILPL1|,C|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||2812|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.165;GNOMADAF_grpmax=0.1984;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:42;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:23:9,14:42:43,0,48:..", + "chr12\t39509\tchr12_39509_G_T\tG\tT\t31\t.\tAF=0.5;AQ=31;CSQ=T|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||1901|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||789|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||790|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2403;GNOMADAF_grpmax=0.3455;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:31;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:28:17,11:31:31,0,54:..", + "chr12\t40484\tchr12_40484_GA_G\tGA\tG\t24\t.\tAF=0.5;AQ=24;CSQ=-|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||925|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||1765|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||1766|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2387;GNOMADAF_grpmax=0.3525;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:22;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:41:14,26:22:24,0,24:..", 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"chr12\t40504\tchr12_40504_A_T\tA\tT\t33\t.\tAF=0.5;AQ=33;CSQ=T|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||906|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||1784|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||1785|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2333;GNOMADAF_grpmax=0.3358;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:31;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:34:11,22:31:33,0,35:..", 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"chr12\t41135\tchr12_41135_T_A\tT\tA\t41\t.\tAF=0.5;AQ=41;CSQ=A|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||275|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||2415|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,A|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||2416|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1746;GNOMADAF_grpmax=0.2759;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:41;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:48:24,23:41:41,0,55:..", 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"chr12\t41162\tchr12_41162_C_T\tC\tT\t31\t.\tAF=0.5;AQ=31;CSQ=T|upstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||248|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||2442|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||2443|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2405;GNOMADAF_grpmax=0.3463;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:31;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:59:28,31:31:31,0,43:..", 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"chr12\t42009\tchr12_42009_C_T\tC\tT\t4\t.\tAF=0.5;AQ=4;CSQ=T|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||474|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3289|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3290|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0401;GNOMADAF_grpmax=0.0524;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:6;RankResult=-12|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:-13.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.27586206896551724;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:21:9,9:6:4,0,17:..", + "chr12\t42022\tchr12_42022_T_C\tT\tC\t26\t.\tAF=0.5;AQ=26;CSQ=C|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||487|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3302|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3303|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0482;GNOMADAF_grpmax=0.0769;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:25;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:15:6,9:25:26,0,30:..", 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"chr12\t42511\tchr12_42511_A_AAC\tA\tAAC\t23\t.\tAF=0.5;AQ=23;CSQ=AC|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||976|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,AC|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3791|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,AC|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3792|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2459;GNOMADAF_grpmax=0.3754;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:35:12,23:21:23,0,24:..", 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"chr12\t42521\tchr12_42521_AAAAC_A\tAAAAC\tA\t24\t.\tAF=0.5;AQ=24;CSQ=-|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||987|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3802|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3803|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2387;GNOMADAF_grpmax=0.3421;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:22;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:34:8,26:22:24,0,24:..", 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"chr12\t42697\tchr12_42697_C_A\tC\tA\t43\t.\tAF=0.5;AQ=43;CSQ=A|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||1162|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||3977|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,A|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||3978|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.24;GNOMADAF_grpmax=0.3455;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:43;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:39:17,22:43:43,0,55:..", 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"chr12\t43172\tchr12_43172_T_TTCC\tT\tTTCC\t15\t.\tAF=0.5;AQ=15;CSQ=TCC|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||1637|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,TCC|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||4452|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,TCC|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||4453|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1329;GNOMADAF_grpmax=0.183;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:15;RankResult=-12|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:-10.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3275862068965517;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:38:35,3:15:15,0,24:..", + "chr12\t43184\tchr12_43184_C_T\tC\tT\t14\t.\tAF=0.5;AQ=14;CSQ=T|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||1649|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||4464|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||4465|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:14;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:35:23,9:14:14,0,24:..", + "chr12\t43212\tchr12_43212_T_G\tT\tG\t44\t.\tAF=0.5;AQ=44;CSQ=G|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||1677|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||4492|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,G|upstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||4493|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3656;GNOMADAF_grpmax=0.4981;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:44;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:27:14,13:44:44,0,61:..", + "chr12\t4395\tchr12_4395_G_A\tG\tA\t41\t.\tAF=0.5;AQ=41;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||2/2|ENST00000340724.6:n.1190+24C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|-17|24|-17|0.01|0.00|0.01|0.19|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||3/3|ENST00000376874.9:c.579+24C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|-17|24|-17|0.01|0.00|0.01|0.19|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||3/3|ENST00000636882.1:c.579+24C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-15|-17|24|-17|0.01|0.00|0.01|0.19|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.4582;GNOMADAF_grpmax=0.661;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:41;RankResult=-12|0|0|1|0|0|3|0|0|1;RankScore=amusingmarmoset:-7.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3793103448275862;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:35:17,18:41:41,0,52:..", + "chr12\t44005\tchr12_44005_C_CA\tC\tCA\t24\t.\tAF=0.5;AQ=24;CSQ=A|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||2470|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2632;GNOMADAF_grpmax=0.3661;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:22;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414\tGT:DP:AD:GQ:PL:RNC\t0/1:32:19,13:22:24,0,24:..", + "chr12\t44125\tchr12_44125_C_G\tC\tG\t41\t.\tAF=0.5;AQ=41;CSQ=G|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||2590|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1673;GNOMADAF_grpmax=0.198;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:41;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414\tGT:DP:AD:GQ:PL:RNC\t0/1:36:18,18:41:41,0,54:..", + "chr12\t44180\tchr12_44180_GA_G\tGA\tG\t37\t.\tAF=0.5;AQ=37;CSQ=-|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||2646|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=2.6294e-05;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:35;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:37:15,22:35:37,0,38:..", + "chr12\t44386\tchr12_44386_C_T\tC\tT\t39\t.\tAF=0.5;AQ=39;CSQ=T|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||2851|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2402;GNOMADAF_grpmax=0.3459;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:39;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414\tGT:DP:AD:GQ:PL:RNC\t0/1:51:25,26:39:39,0,51:..", + "chr12\t44515\tchr12_44515_A_T\tA\tT\t39\t.\tAF=0.5;AQ=39;CSQ=T|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||2980|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1704;GNOMADAF_grpmax=0.1983;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:40;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414\tGT:DP:AD:GQ:PL:RNC\t0/1:37:21,15:40:39,0,58:..", + "chr12\t44805\tchr12_44805_CT_C\tCT\tC\t16\t.\tAF=0.5;AQ=16;CSQ=-|downstream_gene_variant|MODIFIER|MIR3908|ENSG00000266655|Transcript|ENST00000579798|miRNA|||||||||||3271|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:15;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:38:24,9:15:16,0,23:..", + "chr12\t5279\tchr12_5279_CT_C\tCT\tC\t17\t.\tAF=0.5;AQ=17;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-743del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|50|38|-38|38|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-743del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|50|38|-38|38|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-743del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|50|38|-38|38|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1919;GNOMADAF_grpmax=0.2669;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:16;RankResult=-12|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:-10.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3275862068965517;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:19:10,8:16:17,0,22:..", 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"chr12\t6288\tchr12_6288_T_A\tT\tA\t41\t.\tAF=0.5;AQ=41;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-1751A>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-18|-9|14|9|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-1751A>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-18|-9|14|9|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-1751A>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-18|-9|14|9|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2161;GNOMADAF_grpmax=0.2302;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:41;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:39:18,21:41:41,0,53:..", 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"chr12\t6444\tchr12_6444_A_AAAAC\tA\tAAAAC\t34\t.\tAF=0.5;AQ=34;CSQ=AAAC|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-1911_1072-1908dup|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,AAAC|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-1911_461-1908dup|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||,AAAC|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-1911_461-1908dup|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2838;GNOMADAF_grpmax=0.4492;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:29;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:41:14,26:29:34,0,30:..", 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"chr12\t678\tchr12_678_GTT_G\tGTT\tG\t23\t.\tAF=0.5;AQ=23;CSQ=-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined|||||||||||2865|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-39|30|-10|10|0.00|0.00|0.00|0.00|RILPL1|,-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding|||||||||||2865|-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-39|30|-10|10|0.00|0.00|0.00|0.00|RILPL1|,-|downstream_gene_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding|||||||||||2865|-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-39|30|-10|10|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.1718;GNOMADAF_grpmax=0.1972;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:24:18,6:21:23,0,24:..", + "chr12\t7081\tchr12_7081_CA_C\tCA\tC\t23\t.\tAF=0.5;AQ=23;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-2545del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|-4|-29|-42|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-2545del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|-4|-29|-42|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-2545del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|23|-4|-29|-42|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.3663;GNOMADAF_grpmax=0.4955;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:40:19,20:21:23,0,24:..", + "chr12\t8264\tchr12_8264_C_T\tC\tT\t22\t.\tAF=0.5;AQ=22;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-3727G>A|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|-29|14|-29|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-3727G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|-29|14|-29|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-3727G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-2|-29|14|-29|0.00|0.00|0.00|0.00|RILPL1|;FOUND_IN=deepvariant;GNOMADAF=0.2947;GNOMADAF_grpmax=0.4748;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:20;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:16:11,5:20:22,0,24:..", + "chr12\t8494\tchr12_8494_G_A\tG\tA\t34\t.\tAF=0.5;AQ=34;Annotation=DDX11L8;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-3957C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|4|-1|4|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-3957C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|4|-1|4|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-3957C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|2|4|-1|4|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_10044_T_TA>-22.0|chr12_11358_A_G>-22.0|chr12_12565_CA_C>-22.0|chr12_12733_G_A>-22.0|chr12_8889_C_T>-22.0|chr12_9001_CAA_C>-22.0|chr12_9704_G_A>-22.0|chr12_9915_A_G>-22.0;CompoundsNormalized=amusingmarmoset:chr12_10044_T_TA>0.6206896551724138|chr12_11358_A_G>0.6206896551724138|chr12_12565_CA_C>0.6206896551724138|chr12_12733_G_A>0.6206896551724138|chr12_8889_C_T>0.6206896551724138|chr12_9001_CAA_C>0.6206896551724138|chr12_9704_G_A>0.6206896551724138|chr12_9915_A_G>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.2207;GNOMADAF_grpmax=0.2324;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:34;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:30:16,14:34:34,0,53:..", + "chr12\t8889\tchr12_8889_C_T\tC\tT\t39\t.\tAF=0.5;AQ=39;Annotation=DDX11L8;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-4352G>A|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-13|-1|4|-1|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-4352G>A|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-13|-1|4|-1|0.00|0.00|0.00|0.00|RILPL1|,T|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-4352G>A|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-13|-1|4|-1|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_10044_T_TA>-22.0|chr12_11358_A_G>-22.0|chr12_12565_CA_C>-22.0|chr12_12733_G_A>-22.0|chr12_8494_G_A>-22.0|chr12_9001_CAA_C>-22.0|chr12_9704_G_A>-22.0|chr12_9915_A_G>-22.0;CompoundsNormalized=amusingmarmoset:chr12_10044_T_TA>0.6206896551724138|chr12_11358_A_G>0.6206896551724138|chr12_12565_CA_C>0.6206896551724138|chr12_12733_G_A>0.6206896551724138|chr12_8494_G_A>0.6206896551724138|chr12_9001_CAA_C>0.6206896551724138|chr12_9704_G_A>0.6206896551724138|chr12_9915_A_G>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.294;GNOMADAF_grpmax=0.4743;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:40;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:38:20,18:40:39,0,54:..", + "chr12\t9001\tchr12_9001_CAA_C\tCAA\tC\t24\t.\tAF=0.5;AQ=24;Annotation=DDX11L8;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-4466_1072-4465del|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|24|-8|-3|45|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-4466_461-4465del|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|24|-8|-3|45|0.00|0.00|0.00|0.00|RILPL1|,-|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-4466_461-4465del|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|24|-8|-3|45|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_10044_T_TA>-22.0|chr12_11358_A_G>-22.0|chr12_12565_CA_C>-22.0|chr12_12733_G_A>-22.0|chr12_8494_G_A>-22.0|chr12_8889_C_T>-22.0|chr12_9704_G_A>-22.0|chr12_9915_A_G>-22.0;CompoundsNormalized=amusingmarmoset:chr12_10044_T_TA>0.6206896551724138|chr12_11358_A_G>0.6206896551724138|chr12_12565_CA_C>0.6206896551724138|chr12_12733_G_A>0.6206896551724138|chr12_8494_G_A>0.6206896551724138|chr12_8889_C_T>0.6206896551724138|chr12_9704_G_A>0.6206896551724138|chr12_9915_A_G>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.2329;GNOMADAF_grpmax=0.2875;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:22;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:43:19,24:22:24,0,24:..", + "chr12\t9704\tchr12_9704_G_A\tG\tA\t41\t.\tAF=0.5;AQ=41;Annotation=DDX11L8;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-5167C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-49|4|18|14|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-5167C>T|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-49|4|18|14|0.00|0.00|0.00|0.00|RILPL1|,A|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-5167C>T|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-49|4|18|14|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_10044_T_TA>-22.0|chr12_11358_A_G>-22.0|chr12_12565_CA_C>-22.0|chr12_12733_G_A>-22.0|chr12_8494_G_A>-22.0|chr12_8889_C_T>-22.0|chr12_9001_CAA_C>-22.0|chr12_9915_A_G>-22.0;CompoundsNormalized=amusingmarmoset:chr12_10044_T_TA>0.6206896551724138|chr12_11358_A_G>0.6206896551724138|chr12_12565_CA_C>0.6206896551724138|chr12_12733_G_A>0.6206896551724138|chr12_8494_G_A>0.6206896551724138|chr12_8889_C_T>0.6206896551724138|chr12_9001_CAA_C>0.6206896551724138|chr12_9915_A_G>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.2904;GNOMADAF_grpmax=0.4582;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:41;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:49:26,23:41:41,0,54:..", + "chr12\t9915\tchr12_9915_A_G\tA\tG\t39\t.\tAF=0.5;AQ=39;Annotation=DDX11L8;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000340724|protein_coding_CDS_not_defined||1/2|ENST00000340724.6:n.1072-5378T>C|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-33|-16|-1|-40|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000376874|protein_coding||2/3|ENST00000376874.9:c.461-5378T>C|||||||||-1||||YES|1|||ENSP00000366070|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-33|-16|-1|-40|0.00|0.00|0.00|0.00|RILPL1|,G|intron_variant|MODIFIER|RILPL1|ENSG00000188026|Transcript|ENST00000636882|protein_coding||2/3|ENST00000636882.1:c.461-5378T>C|||||||||-1|||||5|||ENSP00000490668|||||minimal_reference.sorted.gtf.gz||||||||||0.806|0.00|-33|-16|-1|-40|0.00|0.00|0.00|0.00|RILPL1|;Compounds=amusingmarmoset:chr12_10044_T_TA>-22.0|chr12_11358_A_G>-22.0|chr12_12565_CA_C>-22.0|chr12_12733_G_A>-22.0|chr12_8494_G_A>-22.0|chr12_8889_C_T>-22.0|chr12_9001_CAA_C>-22.0|chr12_9704_G_A>-22.0;CompoundsNormalized=amusingmarmoset:chr12_10044_T_TA>0.6206896551724138|chr12_11358_A_G>0.6206896551724138|chr12_12565_CA_C>0.6206896551724138|chr12_12733_G_A>0.6206896551724138|chr12_8494_G_A>0.6206896551724138|chr12_8889_C_T>0.6206896551724138|chr12_9001_CAA_C>0.6206896551724138|chr12_9704_G_A>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.2989;GNOMADAF_grpmax=0.4882;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:39;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:46:24,22:39:39,0,54:..", + "chr16\t11100\tchr16_11100_G_A\tG\tA\t38\t.\tAF=0.5;AQ=38;Annotation=DDX11L10,WASH4P;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr16_12420_A_G>-22.0|chr16_12558_TA_T>-22.0|chr16_8684_T_C>-22.0;CompoundsNormalized=amusingmarmoset:chr16_12420_A_G>0.6206896551724138|chr16_12558_TA_T>0.6206896551724138|chr16_8684_T_C>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.1444;GNOMADAF_grpmax=0.1918;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:39;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:42:19,23:39:38,0,53:..", + "chr16\t12420\tchr16_12420_A_G\tA\tG\t40\t.\tAF=0.5;AQ=40;Annotation=DDX11L10,WASH4P;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr16_11100_G_A>-22.0|chr16_12558_TA_T>-22.0|chr16_8684_T_C>-22.0;CompoundsNormalized=amusingmarmoset:chr16_11100_G_A>0.6206896551724138|chr16_12558_TA_T>0.6206896551724138|chr16_8684_T_C>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.3193;GNOMADAF_grpmax=0.5449;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:40;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:34:15,19:40:40,0,53:..", + "chr16\t12558\tchr16_12558_T_TA;chr16_12558_TA_T\tTA\tT\t24\t.\tAF=0.5;AQ=24;Annotation=DDX11L10,WASH4P;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;Compounds=amusingmarmoset:chr16_11100_G_A>-22.0|chr16_12420_A_G>-22.0|chr16_8684_T_C>-22.0;CompoundsNormalized=amusingmarmoset:chr16_11100_G_A>0.6206896551724138|chr16_12420_A_G>0.6206896551724138|chr16_8684_T_C>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.1505;GNOMADAF_grpmax=0.1779;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:20;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243\tGT:DP:AD:GQ:PL:RNC\t0/1:33:1,21:20:36,29,24:..", + "chr16\t1377\tchr16_1377_G_C\tG\tC\t34\t.\tAF=0.5;AQ=34;CSQ=C|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||4058|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|-1|-11|-30|-11|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.4335;GNOMADAF_grpmax=0.5428;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:33;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:42:16,26:33:34,0,39:..", + "chr16\t1379\tchr16_1379_G_A\tG\tA\t30\t.\tAF=0.5;AQ=30;CSQ=A|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||4056|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|11|-13|42|-13|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.12;GNOMADAF_grpmax=0.3971;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:30;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:42:26,16:30:30,0,47:..", + "chr16\t1891\tchr16_1891_G_GA\tG\tGA\t37\t.\tAF=0.5;AQ=37;CSQ=A|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||3543|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|29|36|29|15|0.00|0.00|0.05|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.1487;GNOMADAF_grpmax=0.3757;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:36;RankResult=-12|0|0|1|0|0|3|0|0|1;RankScore=amusingmarmoset:-7.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3793103448275862;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:51:24,27:36:37,0,41:..", + "chr16\t2876\tchr16_2876_T_C\tT\tC\t34\t.\tAF=0.5;AQ=34;CSQ=C|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||2559|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|42|-2|-14|36|0.00|0.00|0.02|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.1733;GNOMADAF_grpmax=0.23;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:34;RankResult=-12|0|0|1|0|0|3|0|0|1;RankScore=amusingmarmoset:-7.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3793103448275862;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:44:28,16:34:34,0,54:..", + "chr16\t3466\tchr16_3466_G_A\tG\tA\t27\t.\tAF=0.5;AQ=27;CSQ=A|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||1969|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|25|38|25|-12|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.1206;GNOMADAF_grpmax=0.4017;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:28;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:51:34,17:28:27,0,50:..", + "chr16\t4802\tchr16_4802_T_C\tT\tC\t39\t.\tAF=0.5;AQ=39;CSQ=C|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||633|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|-36|-2|-42|23|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.5704;GNOMADAF_grpmax=0.6401;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:39;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:31:12,19:39:39,0,49:..", + "chr16\t5056\tchr16_5056_G_A\tG\tA\t40\t.\tAF=0.5;AQ=40;CSQ=A|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||379|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|47|-34|22|48|0.01|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.1981;GNOMADAF_grpmax=0.2791;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:41;RankResult=-12|0|0|1|0|0|3|0|0|1;RankScore=amusingmarmoset:-7.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3793103448275862;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:28:12,16:41:40,0,52:..", + "chr16\t5093\tchr16_5093_G_A\tG\tA\t37\t.\tAF=0.5;AQ=37;CSQ=A|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||342|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|32|10|33|-15|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.3914;GNOMADAF_grpmax=0.558;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:37;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:25:14,11:37:37,0,54:..", + "chr16\t523\tchr16_523_G_A\tG\tA\t30\t.\tAF=0.5;AQ=30;CSQ=A|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||4912|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|-35|9|2|-1|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.2071;GNOMADAF_grpmax=0.3309;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:29;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:40:12,25:29:30,0,32:..", + "chr16\t548\tchr16_548_GT_G\tGT\tG\t24\t.\tAF=0.5;AQ=24;CSQ=-|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||4886|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|4|-17|-48|-27|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.3628;GNOMADAF_grpmax=0.3966;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:22;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:40:13,24:22:24,0,24:..", + "chr16\t562\tchr16_562_G_C\tG\tC\t23\t.\tAF=0.5;AQ=23;CSQ=C|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||4873|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|42|-30|-40|43|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:40:25,15:21:23,0,23:..", + "chr16\t563\tchr16_563_G_C\tG\tC\t20\t.\tAF=0.5;AQ=20;CSQ=C|downstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||4872|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99|41|-31|42|-31|0.00|0.00|0.00|0.00|XYLT1|;FOUND_IN=deepvariant;GNOMADAF=0.6161;GNOMADAF_grpmax=0.6956;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:20;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:39:17,22:20:20,0,27:..", + "chr16\t5962\tchr16_5962_G_A\tG\tA\t23\t.\tAF=0.5;AQ=23;CSQ=A|upstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||1|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:12:7,5:21:23,0,24:..", + "chr16\t6647\tchr16_6647_G_T\tG\tT\t42\t.\tAF=0.5;AQ=42;CSQ=T|upstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||686|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2967;GNOMADAF_grpmax=0.412;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:42;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:37:14,23:42:42,0,50:..", + "chr16\t8684\tchr16_8684_T_C\tT\tC\t39\t.\tAF=0.5;AQ=39;Annotation=DDX11L10;CSQ=C|upstream_gene_variant|MODIFIER|XYLT1|ENSG00000103489|Transcript|ENST00000261381|protein_coding|||||||||||2723|-1||||YES|1|||ENSP00000261381|||||minimal_reference.sorted.gtf.gz||||||||||0.202|0.99||||||||||;Compounds=amusingmarmoset:chr16_11100_G_A>-22.0|chr16_12420_A_G>-22.0|chr16_12558_TA_T>-22.0;CompoundsNormalized=amusingmarmoset:chr16_11100_G_A>0.6206896551724138|chr16_12420_A_G>0.6206896551724138|chr16_12558_TA_T>0.6206896551724138;FOUND_IN=deepvariant;GNOMADAF=0.4841;GNOMADAF_grpmax=0.5265;GeneticModels=amusingmarmoset:AD|AR_comp;ModelScore=amusingmarmoset:40;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-14.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.25862068965517243;most_severe_pli=0.99\tGT:DP:AD:GQ:PL:RNC\t0/1:37:19,18:40:39,0,53:..", + "chr20\t10237\tchr20_10237_T_C\tT\tC\t42\t.\tAF=0.5;AQ=42;CSQ=C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|8/8||ENST00000467196.5:c.*406T>C||1163|||||||1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|3_prime_UTR_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|6/6||ENST00000415272.2:c.*846T>C||1505|||||||1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||159|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||159|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2060|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||159|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||1047|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||159|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||306|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||1796|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||159|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2269|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||159|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||779|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2724|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2724|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2724|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||4416|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||1011|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||1018|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||1687|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||1687|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||787|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2724|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||2724|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||197|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3038|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3950|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||1542|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||1226|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||2054|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|missense_variant|MODERATE|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|12/12||ENST00000329276.10:c.1727T>C|ENSP00000370589.1:p.Val576Ala|1756|1727|576|V/A|gTt/gCt|||1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|3/3||ENST00000462630.5:n.702T>C||702|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|6/6||ENST00000466447.5:n.937T>C||937|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|2/2||ENST00000467857.1:n.578T>C||578|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|5/5||ENST00000492135.5:n.986T>C||986|||||||1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|1/1||ENST00000612233.1:n.2824T>C||2824|||||||1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|2/2||ENST00000616692.1:n.2505T>C||2505|||||||1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-31|13|2|-26|0.00|0.00|0.00|0.00|NOP56|;FOUND_IN=deepvariant;GNOMADAF=0.3585;GNOMADAF_grpmax=0.5588;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:42;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:44:20,24:42:42,0,55:..", + "chr20\t10925\tchr20_10925_G_T\tG\tT\t42\t.\tAF=0.5;AQ=42;CSQ=T|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||1372|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||359|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||1108|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||1581|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||91|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||531|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||565|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3412|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3412|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||531|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||531|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||531|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||531|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3412|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||1699|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||1706|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||2375|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||2375|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||1475|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||531|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3412|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3412|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||532|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||531|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||885|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|downstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3726|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4638|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||2230|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||1914|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||2742|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay||4/5|ENST00000466494.6:c.350-87C>A|||||||||-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay||4/4|ENST00000477689.2:c.*62-87C>A|||||||||-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||6/6|ENST00000488299.5:n.841-87C>A|||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron||3/4|ENST00000492240.5:n.637-87C>A|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||7/7|ENST00000380843.9:c.735-87C>A|||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||7/7|ENST00000380851.9:c.735-402C>A|||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|,T|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||7/8|ENST00000474315.5:c.735-87C>A|||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-29|-41|19|38|0.00|0.00|0.00|0.00|IDH3B|;FOUND_IN=deepvariant;GNOMADAF=0.3147;GNOMADAF_grpmax=0.4142;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:42;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:40:16,24:42:42,0,49:..", + "chr20\t11083\tchr20_11083_C_CGCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT\tC\tCGCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT\t18\t.\tAF=0.5;AQ=18;CSQ=GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|3_prime_UTR_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|8/8||ENST00000613370.1:c.*170_*171insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC||964-965|||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||1213|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||200|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||949|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||1422|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||689|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||723|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3570|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3570|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||689|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||689|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||689|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||689|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3570|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||1857|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||1864|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||2533|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||2533|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||1633|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||689|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3570|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3570|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||690|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||689|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||1043|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3884|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4796|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||2388|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||2072|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|downstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||2900|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay||4/5|ENST00000466494.6:c.350-246_350-245insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay||4/4|ENST00000477689.2:c.*62-246_*62-245insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||6/6|ENST00000488299.5:n.841-246_841-245insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron||3/4|ENST00000492240.5:n.637-246_637-245insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||7/7|ENST00000380843.9:c.735-246_735-245insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||7/7|ENST00000380851.9:c.734+442_734+443insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,GCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||7/8|ENST00000474315.5:c.735-246_735-245insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC|||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:18;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:52:16,12:18:18,0,25:..", + "chr20\t11161\tchr20_11161_G_A\tG\tA\t39\t.\tAF=0.5;AQ=39;CSQ=A|3_prime_UTR_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|8/8||ENST00000613370.1:c.*93C>T||887|||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||1136|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||123|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||872|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||1345|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||767|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||801|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3648|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3648|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||767|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||767|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||767|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||767|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3648|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||1935|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||1942|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||2611|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||2611|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||1711|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||767|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3648|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3648|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||768|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||767|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||1121|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3962|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4874|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||2466|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||2150|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||2978|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay||4/5|ENST00000466494.6:c.350-323C>T|||||||||-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay||4/4|ENST00000477689.2:c.*62-323C>T|||||||||-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||6/6|ENST00000488299.5:n.841-323C>T|||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron||3/4|ENST00000492240.5:n.637-323C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||7/7|ENST00000380843.9:c.735-323C>T|||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||7/7|ENST00000380851.9:c.734+365C>T|||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||7/8|ENST00000474315.5:c.735-323C>T|||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-48|27|45|-24|0.00|0.00|0.00|0.00|IDH3B|;FOUND_IN=deepvariant;GNOMADAF=0.21;GNOMADAF_grpmax=0.2843;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:39;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:56:27,29:39:39,0,51:..", 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orted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||2762|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||2446|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||3274|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay||4/5|ENST00000466494.6:c.349+69C>T|||||||||-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant&NMD_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay||4/4|ENST00000477689.2:c.*61+69C>T|||||||||-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||6/6|ENST00000488299.5:n.840+69C>T|||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant&non_coding_transcript_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron||3/4|ENST00000492240.5:n.636+69C>T|||||||||-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||7/7|ENST00000380843.9:c.734+69C>T|||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||7/7|ENST00000380851.9:c.734+69C>T|||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||7/8|ENST00000474315.5:c.734+69C>T|||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|intron_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||7/7|ENST00000613370.1:c.734+69C>T|||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|,A|non_coding_transcript_exon_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|2/2||ENST00000466999.1:n.348C>T||348|||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00|-39|-7|-38|31|0.00|0.00|0.00|0.00|IDH3B|;FOUND_IN=deepvariant;GNOMADAF=0.359;GNOMADAF_grpmax=0.5642;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:39;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:31:15,16:39:38,0,52:..", 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689|nonsense_mediated_decay|||||||||||868|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||624|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||208|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||208|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||818|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,TG|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||208|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4146;GNOMADAF_grpmax=0.4455;GeneticModels=amusingmarmoset:AR_hom;ModelScore=amusingmarmoset:39;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t1/1:44:0,43:39:41,41,0:..", 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"chr20\t15231\tchr20_15231_G_A\tG\tA\t22\t.\tAF=0.5;AQ=22;CSQ=A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||4837|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||4871|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||4837|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||4837|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||4837|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||4837|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||4837|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||4838|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||4837|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||2261|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||2261|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2261|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||2922|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||3314|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||2261|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||2921|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||2677|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||2261|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2261|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||2871|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||2261|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:20;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:72:45,27:20:22,0,23:..", 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"chr20\t15612\tchr20_15612_A_G\tA\tG\t3\t.\tAF=0.5;AQ=3;CSQ=G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||2642|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||2642|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2642|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||3303|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||3695|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||2642|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||3302|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||3058|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||2642|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2642|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||3252|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||2642|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:5;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:44:29,15:5:3,0,21:..", 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"chr20\t15670\tchr20_15670_T_TC\tT\tTC\t19\t.\tAF=0.5;AQ=19;CSQ=C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||2700|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||2700|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2700|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||3361|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||3753|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||2700|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||3360|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||3116|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||2700|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2700|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||3310|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||2700|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:18;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:57:33,24:18:19,0,25:..", 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"chr20\t15753\tchr20_15753_C_T\tC\tT\t26\t.\tAF=0.5;AQ=26;CSQ=T|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||2783|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||2783|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2783|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||3444|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||3836|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||2783|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||3443|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||3199|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||2783|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2783|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||3393|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||2783|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:27;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:49:29,19:27:26,0,45:..", 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"chr20\t15800\tchr20_15800_A_G\tA\tG\t19\t.\tAF=0.5;AQ=19;CSQ=G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||2830|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||2830|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2830|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||3491|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||3883|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||2830|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||3490|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||3246|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||2830|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2830|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||3440|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||2830|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:19;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:56:39,17:19:19,0,25:..", 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"chr20\t1640\tchr20_1640_A_G\tA\tG\t41\t.\tAF=0.5;AQ=41;CSQ=G|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3138|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2993|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3010|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3362|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3007|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2994|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2993|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||4595|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2954|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4573|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4062;GNOMADAF_grpmax=0.539;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:42;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:38:17,21:42:41,0,53:..", 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"chr20\t16500\tchr20_16500_C_A\tC\tA\t23\t.\tAF=0.5;AQ=23;CSQ=A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||3530|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||3530|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||3530|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||4191|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||4583|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||3530|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||4190|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||3946|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||3530|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||3530|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||4140|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||3530|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:31:8,23:21:23,0,24:..", 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"chr20\t16606\tchr20_16606_G_A\tG\tA\t40\t.\tAF=0.5;AQ=40;CSQ=A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||3636|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||3636|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||3636|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||4297|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||4689|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||3636|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||4296|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||4052|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||3636|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||3636|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||4246|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||3636|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:41;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:42:21,21:41:40,0,54:..", 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"chr20\t1666\tchr20_1666_G_A\tG\tA\t43\t.\tAF=0.5;AQ=43;CSQ=A|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3112|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2967|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2984|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3336|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2981|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2968|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2967|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||4569|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2928|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4547|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4063;GNOMADAF_grpmax=0.5393;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:43;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:36:16,20:43:43,0,51:..", 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"chr20\t17130\tchr20_17130_G_A\tG\tA\t28\t.\tAF=0.5;AQ=28;CSQ=A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||4160|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||4160|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||4160|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||4821|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||4160|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||4820|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||4576|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||4160|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||4160|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||4770|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|upstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||4160|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:29;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:28:15,13:29:28,0,47:..", 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"chr20\t18265\tchr20_18265_A_G\tA\tG\t20\t.\tAF=0.5;AQ=20;CSQ=G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||||||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||||||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||||||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,G|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||||||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:20;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:61:28,31:20:20,0,35:..", 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"chr20\t18300\tchr20_18300_G_C\tG\tC\t33\t.\tAF=0.5;AQ=33;CSQ=C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||||||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||||||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||||||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||||||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:33;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:39:21,18:33:33,0,48:..", 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"chr20\t18314\tchr20_18314_T_A\tT\tA\t28\t.\tAF=0.5;AQ=28;CSQ=A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||||||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||||||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||||||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||||||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:28;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:39:21,18:28:28,0,43:..", 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"chr20\t18341\tchr20_18341_G_T\tG\tT\t26\t.\tAF=0.5;AQ=26;CSQ=T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||||||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||||||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||||||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,T|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||||||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:26;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:43:25,18:26:26,0,43:..", 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"chr20\t18358\tchr20_18358_C_A\tC\tA\t28\t.\tAF=0.5;AQ=28;CSQ=A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding||||||||||||-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding||||||||||||-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding||||||||||||-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron||||||||||||-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,A|intergenic_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding||||||||||||-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:28;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:39:22,17:28:28,0,46:..", + "chr20\t19135\tchr20_19135_A_T\tA\tT\t38\t.\tAF=0.5;AQ=38;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:38;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:31:14,17:38:38,0,48:..", + "chr20\t19222\tchr20_19222_A_G\tA\tG\t40\t.\tAF=0.5;AQ=40;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:40;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:28:14,14:40:40,0,52:..", + "chr20\t19480\tchr20_19480_G_T\tG\tT\t3\t.\tAF=0.5;AQ=3;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:5;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:78:29,49:5:3,0,22:..", + "chr20\t19502\tchr20_19502_A_G\tA\tG\t1\t.\tAF=0.5;AQ=1;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:4;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:79:31,48:4:1,0,21:..", + "chr20\t1952\tchr20_1952_C_G\tC\tG\t34\t.\tAF=0.5;AQ=34;CSQ=G|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||2826|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2681|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2698|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3050|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2695|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2682|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4838|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2681|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||4283|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2642|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4261|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.5541;GNOMADAF_grpmax=0.5878;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:34;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:43:21,22:34:34,0,45:..", 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"chr20\t1955\tchr20_1955_G_A\tG\tA\t32\t.\tAF=0.5;AQ=32;CSQ=A|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||2823|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2678|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2695|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||3047|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2692|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2679|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4835|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2678|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||4280|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2639|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||4258|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0525;GNOMADAF_grpmax=0.0818;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:32;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:46:22,24:32:32,0,47:..", 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"chr20\t20312\tchr20_20312_C_CCCTT\tC\tCCCTT\t22\t.\tAF=0.5;AQ=22;CSQ=CCTT|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:61:32,26:21:22,0,24:..", + "chr20\t20334\tchr20_20334_A_C\tA\tC\t25\t.\tAF=0.5;AQ=25;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:25;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:59:28,31:25:25,0,41:..", + "chr20\t20367\tchr20_20367_C_T\tC\tT\t28\t.\tAF=0.5;AQ=28;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:29;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:53:23,30:29:28,0,46:..", + "chr20\t20390\tchr20_20390_T_C\tT\tC\t28\t.\tAF=0.5;AQ=28;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:29;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:46:24,22:29:28,0,51:..", + "chr20\t20427\tchr20_20427_G_A\tG\tA\t27\t.\tAF=0.5;AQ=27;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:27;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:53:31,22:27:27,0,43:..", + "chr20\t20454\tchr20_20454_A_AC\tA\tAC\t23\t.\tAF=0.5;AQ=23;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:69:38,29:21:23,0,24:..", + "chr20\t20482\tchr20_20482_T_TA\tT\tTA\t22\t.\tAF=0.5;AQ=22;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:20;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:74:42,32:20:22,0,24:..", + "chr20\t20505\tchr20_20505_C_A\tC\tA\t4\t.\tAF=0.5;AQ=4;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:6;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:79:42,37:6:4,0,20:..", + 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"chr20\t22747\tchr20_22747_G_T\tG\tT\t14\t.\tAF=0.5;AQ=14;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:15;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:91:38,53:15:14,0,25:..", + "chr20\t22748\tchr20_22748_C_A\tC\tA\t18\t.\tAF=0.5;AQ=18;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:18;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:91:37,54:18:18,0,25:..", + 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"chr20\t23016\tchr20_23016_G_A\tG\tA\t3\t.\tAF=0.5;AQ=3;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:5;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:139:41,98:5:3,0,16:..", + "chr20\t23036\tchr20_23036_G_T\tG\tT\t0\t.\tAF=0.5;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:3;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:132:39,93:3:0,0,18:..", + "chr20\t23092\tchr20_23092_A_G\tA\tG\t18\t.\tAF=0.5;AQ=18;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:18;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:126:39,87:18:18,0,23:..", + "chr20\t23279\tchr20_23279_C_CA\tC\tCA\t0\t.\tAF=0.5;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:3;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:56:21,9:3:17,0,24:..", + "chr20\t23283\tchr20_23283_A_G\tA\tG\t12\t.\tAF=0.5;AQ=12;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:12;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:57:32,25:12:12,0,24:..", + "chr20\t23287\tchr20_23287_A_T\tA\tT\t19\t.\tAF=0.5;AQ=19;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:18;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:58:30,27:18:19,0,25:..", + "chr20\t23299\tchr20_23299_T_TA\tT\tTA\t10\t.\tAF=0.5;AQ=10;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:11;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:59:28,30:11:10,0,24:..", + "chr20\t23319\tchr20_23319_C_CT\tC\tCT\t7\t.\tAF=0.5;AQ=7;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:8;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:64:37,26:8:7,0,23:..", + "chr20\t23329\tchr20_23329_TAC_T\tTAC\tT\t4\t.\tAF=0.5;AQ=4;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:6;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:59:34,25:6:4,0,23:..", + "chr20\t23342\tchr20_23342_T_C\tT\tC\t13\t.\tAF=0.5;AQ=13;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:13;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:59:33,26:13:13,0,23:..", + "chr20\t23344\tchr20_23344_T_C\tT\tC\t13\t.\tAF=0.5;AQ=13;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:13;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:58:32,26:13:13,0,23:..", + "chr20\t23398\tchr20_23398_T_A\tT\tA\t22\t.\tAF=0.5;AQ=22;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:57:33,24:21:22,0,25:..", + "chr20\t23408\tchr20_23408_G_A\tG\tA\t6\t.\tAF=0.5;AQ=6;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:7;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:55:34,21:7:6,0,22:..", + "chr20\t23566\tchr20_23566_T_C\tT\tC\t7\t.\tAF=0.5;AQ=7;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:8;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:128:32,95:8:7,0,21:..", + "chr20\t23592\tchr20_23592_A_G\tA\tG\t12\t.\tAF=0.5;AQ=12;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:12;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:134:97,37:12:12,0,24:..", + "chr20\t23625\tchr20_23625_C_T\tC\tT\t18\t.\tAF=0.5;AQ=18;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:17;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:119:104,15:17:18,0,22:..", + "chr20\t23660\tchr20_23660_T_C\tT\tC\t9\t.\tAF=0.5;AQ=9;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:10;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:123:99,24:10:9,0,23:..", + "chr20\t23669\tchr20_23669_G_A\tG\tA\t11\t.\tAF=0.5;AQ=11;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:12;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:126:101,25:12:11,0,23:..", + "chr20\t2370\tchr20_2370_C_G\tC\tG\t40\t.\tAF=0.5;AQ=40;CSQ=G|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||2408|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2263|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2280|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2632|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2277|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2264|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4420|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||4728|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2263|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3865|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2224|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||4698|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3843|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4927;GNOMADAF_grpmax=0.6081;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:40;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:48:25,23:40:40,0,53:..", 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"chr20\t24033\tchr20_24033_A_G\tA\tG\t15\t.\tAF=0.5;AQ=15;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:15;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:85:52,33:15:15,0,24:..", + "chr20\t24064\tchr20_24064_C_T\tC\tT\t22\t.\tAF=0.5;AQ=22;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:22;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:95:57,38:22:22,0,43:..", + "chr20\t24147\tchr20_24147_T_G\tT\tG\t17\t.\tAF=0.5;AQ=17;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:16;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:87:45,42:16:17,0,24:..", + "chr20\t24219\tchr20_24219_T_A\tT\tA\t20\t.\tAF=0.5;AQ=20;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:19;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:121:51,70:19:20,0,25:..", + "chr20\t24247\tchr20_24247_G_T\tG\tT\t17\t.\tAF=0.5;AQ=17;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:17;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:131:64,67:17:17,0,24:..", + "chr20\t24269\tchr20_24269_T_C\tT\tC\t1\t.\tAF=0.5;AQ=1;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:4;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:138:54,84:4:1,0,21:..", + "chr20\t2430\tchr20_2430_T_A\tT\tA\t36\t.\tAF=0.5;AQ=36;CSQ=A|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||2348|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2203|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2220|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2572|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2217|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2204|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4360|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||4668|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2203|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3805|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||4984|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2164|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,A|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||4638|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3783|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4022;GNOMADAF_grpmax=0.5241;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:36;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:38:22,16:36:36,0,54:..", + "chr20\t24418\tchr20_24418_AAC_A\tAAC\tA\t2\t.\tAF=0.5;AQ=2;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:5;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:174:142,32:5:2,0,21:..", + "chr20\t24522\tchr20_24522_C_CAA\tC\tCAA\t2\t.\tAF=0.5;AQ=2;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:5;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:257:47,84:5:2,0,16:..", + "chr20\t24914\tchr20_24914_C_A\tC\tA\t0\t.\tAF=0.5;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:3;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:67:31,36:3:0,0,19:..", + "chr20\t25070\tchr20_25070_A_T\tA\tT\t12\t.\tAF=0.5;AQ=12;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:13;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:27:18,7:13:12,0,24:..", + "chr20\t25180\tchr20_25180_G_C\tG\tC\t23\t.\tAF=0.5;AQ=23;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:23;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:49:34,14:23:23,0,48:..", + "chr20\t25247\tchr20_25247_A_G\tA\tG\t20\t.\tAF=0.5;AQ=20;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:20;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:47:32,15:20:20,0,41:..", + "chr20\t2547\tchr20_2547_A_G\tA\tG\t35\t.\tAF=0.5;AQ=35;CSQ=G|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||2231|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2086|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2103|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2455|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||4890|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2100|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2087|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4243|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||4551|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2086|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3688|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||4867|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2047|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||4521|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3666|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4926;GNOMADAF_grpmax=0.6081;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:36;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:50:31,19:36:35,0,53:..", + "chr20\t25478\tchr20_25478_A_C\tA\tC\t17\t.\tAF=0.5;AQ=17;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:17;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:93:42,51:17:17,0,24:..", + "chr20\t25495\tchr20_25495_G_C\tG\tC\t11\t.\tAF=0.5;AQ=11;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:12;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:99:59,40:12:11,0,24:..", + "chr20\t25699\tchr20_25699_A_C\tA\tC\t2\t.\tAF=0.5;AQ=2;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:4;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:70:25,43:4:2,0,21:..", + "chr20\t25721\tchr20_25721_A_AAGAG\tA\tAAGAG\t5\t.\tAF=0.5;AQ=5;CSQ=AGAG|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:7;RankResult=4|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:3.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5517241379310345\tGT:DP:AD:GQ:PL:RNC\t0/1:73:63,5:7:5,0,20:..", + "chr20\t2580\tchr20_2580_A_G\tA\tG\t35\t.\tAF=0.5;AQ=35;CSQ=G|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||2198|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2053|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2070|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2422|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||4857|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2067|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2054|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4210|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||4518|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2053|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3655|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||4834|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||4968|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||2014|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,G|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||4488|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3633|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3987;GNOMADAF_grpmax=0.5125;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:35;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:51:31,20:35:35,0,53:..", + "chr20\t25934\tchr20_25934_A_G\tA\tG\t20\t.\tAF=0.5;AQ=20;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:46:29,17:21:20,0,41:..", + "chr20\t2624\tchr20_2624_G_C\tG\tC\t37\t.\tAF=0.5;AQ=37;CSQ=C|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||2154|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||2009|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||4993|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2026|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2378|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||4813|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2023|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||2010|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||4166|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||4474|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2009|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||3611|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||4790|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||4924|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||1970|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||4444|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3589|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4927;GNOMADAF_grpmax=0.6089;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:38;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:47:28,19:38:37,0,54:..", + "chr20\t26633\tchr20_26633_T_C\tT\tC\t39\t.\tAF=0.5;AQ=39;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:39;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:51:26,25:39:39,0,51:..", + "chr20\t26708\tchr20_26708_T_C\tT\tC\t37\t.\tAF=0.5;AQ=37;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:38;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:43:22,21:38:37,0,52:..", + "chr20\t26867\tchr20_26867_G_GAA\tG\tGAA\t24\t.\tAF=0.5;AQ=24;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:39:26,13:21:24,0,24:..", + "chr20\t27513\tchr20_27513_C_A\tC\tA\t20\t.\tAF=0.5;AQ=20;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:19;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:129:46,83:19:20,0,24:..", + "chr20\t27531\tchr20_27531_A_AT\tA\tAT\t15\t.\tAF=0.5;AQ=15;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:15;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:129:54,72:15:15,0,24:..", + "chr20\t27537\tchr20_27537_A_G\tA\tG\t11\t.\tAF=0.5;AQ=11;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:11;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:121:49,72:11:11,0,23:..", + "chr20\t27579\tchr20_27579_T_C\tT\tC\t24\t.\tAF=0.5;AQ=24;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:24;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:103:39,64:24:24,0,32:..", + "chr20\t27616\tchr20_27616_C_G\tC\tG\t24\t.\tAF=0.5;AQ=24;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:22;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:93:32,61:22:24,0,25:..", + 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"chr20\t31488\tchr20_31488_T_C\tT\tC\t19\t.\tAF=0.5;AQ=19;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:18;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:44:15,29:18:19,0,24:..", + 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"chr20\t33589\tchr20_33589_T_A\tT\tA\t23\t.\tAF=0.5;AQ=23;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:54:41,13:21:23,0,24:..", + "chr20\t34273\tchr20_34273_C_A\tC\tA\t23\t.\tAF=0.5;AQ=23;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t0/1:44:29,15:21:23,0,24:..", + 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"chr20\t3531\tchr20_3531_A_ATTT\tA\tATTT\t24\t.\tAF=0.5;AQ=24;CSQ=TTT|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||1246|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||1101|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||4085|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||1118|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||1470|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||4580|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||3905|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||1115|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||1102|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||4879|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||4628|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||3258|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||3566|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||4870|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||4415|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||1101|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||2703|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||3882|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||4016|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||1062|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,TTT|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3536|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,TTT|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||2681|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,TTT|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||4566|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.491;GNOMADAF_grpmax=0.6068;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:22;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:41:22,17:22:24,0,24:..", 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"chr20\t3567\tchr20_3567_T_C\tT\tC\t40\t.\tAF=0.5;AQ=40;CSQ=C|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||1211|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||1066|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||4050|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||1083|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||1435|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||4545|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||3870|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||1080|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||1067|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||4844|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||4593|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||3223|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||3531|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||4835|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||4380|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||1066|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||2668|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||3847|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||3981|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||1027|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3501|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||2646|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||4531|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4868;GNOMADAF_grpmax=0.6085;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:40;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:34:15,19:40:40,0,51:..", + "chr20\t35833\tchr20_35833_T_A\tT\tA\t14\t.\tAF=0.5;AQ=14;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:14;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:54:39,12:14:14,0,25:..", + "chr20\t36166\tchr20_36166_A_G\tA\tG\t12\t.\tAF=0.5;AQ=12;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:13;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069\tGT:DP:AD:GQ:PL:RNC\t0/1:213:150,62:13:12,0,24:..", + "chr20\t3683\tchr20_3683_C_T\tC\tT\t42\t.\tAF=0.5;AQ=42;CSQ=T|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||1095|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||950|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||3934|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||967|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||1319|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||4958|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||4429|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||3754|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||964|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||951|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||4728|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||4477|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||3107|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||3415|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||4719|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||4264|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||950|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||2552|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||3731|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||3865|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||911|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,T|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||3385|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||2530|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||4942|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||4415|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4925;GNOMADAF_grpmax=0.6083;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:43;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:41:19,22:43:42,0,53:..", + "chr20\t394\tchr20_394_T_C\tT\tC\t39\t.\tAF=0.5;AQ=39;CSQ=C|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||4384|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||4239|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||4256|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||4608|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||4253|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||4240|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||4239|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,C|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||4200|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0252;GNOMADAF_grpmax=0.0848;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:39;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:40:22,18:39:39,0,55:..", 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ated_decay|||||||||||263|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|2|-21|-4|-11|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||2737|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||1882|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||4294|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||4609|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||3767|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4813;GNOMADAF_grpmax=0.5818;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:42;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:25:11,14:42:41,0,56:..", 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ER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||1527|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||3939|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||4254|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||3412|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3163;GNOMADAF_grpmax=0.4163;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:22;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:27:9,18:22:24,0,24:..", + "chr20\t4733\tchr20_4733_A_AGAGCCTGGGCCT\tA\tAGAGCCTGGGCCT\t23\t.\tAF=0.5;AQ=23;CSQ=GAGCCTGGGCCT|intron_variant&NMD_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay||1/13|ENST00000651302.1:c.3+70_3+71insAGCCTGGGCCTG|||||||||1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01||||||||||,GAGCCTGGGCCT|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined||1/2|ENST00000470143.1:n.31+70_31+71insAGCCTGGGCCTG|||||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01||||||||||,GAGCCTGGGCCT|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined||1/6|ENST00000494697.5:n.32+70_32+71insAGCCTGGGCCTG|||||||||1|||||5||||||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01||||||||||,GAGCCTGGGCCT|intron_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding||1/11|ENST00000329276.10:c.3+70_3+71insAGCCTGGGCCTG|||||||||1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01||||||||||,GAGCCTGGGCCT|intron_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding||1/5|ENST00000445139.1:c.3+70_3+71insAGCCTGGGCCTG|||||||||1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01||||||||||,GAGCCTGGGCCT|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|1/5||ENST00000469588.5:n.88_89insAGCCTGGGCCTG||87-88|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||1||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||44|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||2883|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||268|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||3907|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||3378|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||2703|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||4216|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||3677|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||3426|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||2056|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||2364|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||3668|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||3213|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||1501|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||2680|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||2814|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||2334|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||1479|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||3891|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||4206|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,GAGCCTGGGCCT|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||3364|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4088;GNOMADAF_grpmax=0.5457;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:20;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:32:9,16:20:23,0,23:..", + "chr20\t4735\tchr20_4735_G_A\tG\tA\t23\t.\tAF=0.5;AQ=23;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay||1/13|ENST00000651302.1:c.3+71G>A|||||||||1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined||1/2|ENST00000470143.1:n.31+71G>A|||||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined||1/6|ENST00000494697.5:n.32+71G>A|||||||||1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|intron_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding||1/11|ENST00000329276.10:c.3+71G>A|||||||||1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|intron_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding||1/5|ENST00000445139.1:c.3+71G>A|||||||||1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|1/5||ENST00000469588.5:n.89G>A||89|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||43|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|||||||||||2882|1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||267|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|||||||||||3906|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|||||||||||3377|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|||||||||||2702|1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|||||||||||4215|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||3676|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||3425|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||2055|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||2363|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||3667|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||3212|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||1500|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||2679|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||2813|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|12|-4|-36|0|0.00|0.00|0.00|0.00|NOP56|,A|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||2333|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||1478|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||3890|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||4205|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||3363|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:27:18,9:21:23,0,25:..", 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|||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||2518|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||1148|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||1456|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||2760|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|||||||||||2305|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||593|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|||||||||||1772|1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|||||||||||1906|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|45|39|-9|-27|0.00|0.02|0.00|0.00|NOP56|,-|upstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||1426|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||571|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||2983|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||3298|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||2456|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.157;GNOMADAF_grpmax=0.229;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:30;RankResult=-12|0|0|1|0|0|3|0|0|1;RankScore=amusingmarmoset:-7.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3793103448275862;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:39:14,25:30:32,0,34:..", 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"chr20\t959\tchr20_959_AT_A\tAT\tA\t23\t.\tAF=0.5;AQ=23;CSQ=-|upstream_gene_variant|MODIFIER|MIR1292|ENSG00000284481|Transcript|ENST00000408135|miRNA|||||||||||3818|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|||||||||||3673|1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||3690|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||4042|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||3687|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||3674|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||3673|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||,-|upstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|||||||||||3634|1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1298;GNOMADAF_grpmax=0.2092;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:39:18,21:21:23,0,24:..", 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"chr20\t9934\tchr20_9934_T_C\tT\tC\t33\t.\tAF=0.5;AQ=33;CSQ=C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467196|nonsense_mediated_decay|8/8||ENST00000467196.5:c.*103T>C||860|||||||1|||||5|||ENSP00000434317|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000651302|nonsense_mediated_decay|14/14||ENST00000651302.1:c.*157T>C||1662|||||||1||||||||ENSP00000498831|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|3_prime_UTR_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000415272|protein_coding|6/6||ENST00000415272.2:c.*543T>C||1202|||||||1|||||5|||ENSP00000403199|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380843|protein_coding|||||||||||462|-1||||YES|1|||ENSP00000370223|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000380851|protein_coding|||||||||||462|-1|||||1|||ENSP00000370232|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000462967|retained_intron|||||||||||2363|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466494|nonsense_mediated_decay|||||||||||462|-1|||||2|||ENSP00000487187|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000466999|retained_intron|||||||||||1350|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000474315|protein_coding|||||||||||462|-1|||||1|||ENSP00000482773|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000477689|nonsense_mediated_decay|||||||||||609|-1|||||5|||ENSP00000485997|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000479376|retained_intron|||||||||||2099|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000488299|retained_intron|||||||||||462|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000491065|retained_intron|||||||||||2572|-1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000492240|retained_intron|||||||||||462|-1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|IDH3B|ENSG00000101365|Transcript|ENST00000613370|protein_coding|||||||||||1082|-1|||||1|||ENSP00000484922|||||minimal_reference.sorted.gtf.gz||||||||||0.902|0.00||||||||||,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000445139|protein_coding|||||||||||2421|1|||||5|||ENSP00000388497|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000460258|protein_coding_CDS_not_defined|||||||||||2421|1|||||4||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000469588|protein_coding_CDS_not_defined|||||||||||2421|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000470143|protein_coding_CDS_not_defined|||||||||||4113|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000471023|protein_coding_CDS_not_defined|||||||||||708|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480447|protein_coding_CDS_not_defined|||||||||||715|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000480992|protein_coding_CDS_not_defined|||||||||||1384|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000484998|protein_coding_CDS_not_defined|||||||||||1384|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000490753|protein_coding_CDS_not_defined|||||||||||484|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000494697|protein_coding_CDS_not_defined|||||||||||2421|1|||||5||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000496775|protein_coding_CDS_not_defined|||||||||||2421|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|downstream_gene_variant|MODIFIER|SNORA51|ENSG00000271798|Transcript|ENST00000606420|snoRNA|||||||||||2735|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD110|ENSG00000221116|Transcript|ENST00000408189|snoRNA|||||||||||3647|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000229686|Transcript|ENST00000413522|snoRNA|||||||||||1239|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD57|ENSG00000226572|Transcript|ENST00000448188|snoRNA|||||||||||923|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD86|ENSG00000212498|Transcript|ENST00000391196|snoRNA|||||||||||1751|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|missense_variant|MODERATE|NOP56|ENSG00000101361|Transcript|ENST00000329276|protein_coding|12/12||ENST00000329276.10:c.1424T>C|ENSP00000370589.1:p.Met475Thr|1453|1424|475|M/T|aTg/aCg|||1||||YES|1|||ENSP00000370589|||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000462630|protein_coding_CDS_not_defined|3/3||ENST00000462630.5:n.399T>C||399|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000466447|protein_coding_CDS_not_defined|6/6||ENST00000466447.5:n.634T>C||634|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000467857|protein_coding_CDS_not_defined|2/2||ENST00000467857.1:n.275T>C||275|||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000492135|protein_coding_CDS_not_defined|5/5||ENST00000492135.5:n.683T>C||683|||||||1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000612233|retained_intron|1/1||ENST00000612233.1:n.2521T>C||2521|||||||1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|,C|non_coding_transcript_exon_variant|MODIFIER|NOP56|ENSG00000101361|Transcript|ENST00000616692|retained_intron|2/2||ENST00000616692.1:n.2202T>C||2202|||||||1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.285|0.01|-29|-1|43|-2|0.01|0.01|0.00|0.00|NOP56|;FOUND_IN=deepvariant;GNOMADAF=0.3579;GNOMADAF_grpmax=0.5588;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:34;RankResult=-12|0|0|1|0|0|3|0|0|1;RankScore=amusingmarmoset:-7.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3793103448275862;most_severe_pli=0.01\tGT:DP:AD:GQ:PL:RNC\t0/1:41:25,16:34:33,0,55:..", + "chr21\t12216\tchr21_12216_G_A\tG\tA\t41\t.\tAF=0.5;AQ=41;CSQ=A|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||642|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1856;GNOMADAF_grpmax=0.468;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:41;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414\tGT:DP:AD:GQ:PL:RNC\t0/1:43:22,21:41:41,0,51:..", + "chr21\t13083\tchr21_13087_GTATATA_G;chr21_13083_GTGTGTATATATA_G\tGTGTGTATATATA\tG\t19\t.\tAF=0.5;AQ=18;CSQ=-|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||1510|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||4419|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||4465|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||4483|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||4483|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2872;GNOMADAF_grpmax=0.5408;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:18;RankResult=-12|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:-10.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3275862068965517;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:17:.,21:18:0,0,0:..", 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"chr21\t13087\tchr21_13087_GTATATA_G;chr21_13083_GTGTGTATATATA_G\tGTATATA\tG\t19\t.\tAF=0.5;AQ=19;CSQ=-|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||1514|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||4421|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||4467|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||4485|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||4485|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2704;GNOMADAF_grpmax=0.4493;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:18;RankResult=-12|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:-10.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3275862068965517;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t1/0:17:.,16:18:0,0,0:..", 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"chr21\t13120\tchr21_13120_GATAT_G\tGATAT\tG\t18\t.\tAF=0.5;AQ=18;CSQ=-|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||1547|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||4390|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||4436|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||4454|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,-|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||4454|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:17;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:31:13,18:17:18,0,23:..", 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"chr21\t13977\tchr21_13977_G_T\tG\tT\t33\t.\tAF=0.5;AQ=33;CSQ=T|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||2403|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|||||||||||4517|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||3537|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||3583|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||3601|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||3601|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2669;GNOMADAF_grpmax=0.5154;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:33;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:43:23,20:33:33,0,45:..", 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"chr21\t13978\tchr21_13978_A_AT\tA\tAT\t24\t.\tAF=0.5;AQ=24;CSQ=T|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||2404|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|||||||||||4515|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||3535|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||3581|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||3599|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||3599|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.298;GNOMADAF_grpmax=0.4732;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:22;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:42:23,18:22:24,0,24:..", 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"chr21\t14816\tchr21_14816_C_T\tC\tT\t33\t.\tAF=0.5;AQ=33;CSQ=T|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||3242|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|||||||||||3678|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||2698|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||2744|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||2762|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||2762|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.23;GNOMADAF_grpmax=0.4604;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:34;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:23:14,9:34:33,0,51:..", 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"chr21\t159\tchr21_159_TTA_T\tTTA\tT\t31\t.\tAF=0.5;AQ=31;CSQ=-|downstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000291568|protein_coding|||||||||||1790|-1||||YES|1|||ENSP00000291568|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|downstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000480147|retained_intron|||||||||||365|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|downstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000639959|protein_coding|||||||||||351|-1|||||5|||ENSP00000492123|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|downstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000640406|protein_coding|||||||||||361|-1|||||2|||ENSP00000492672|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|downstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000675996|protein_coding_CDS_not_defined|||||||||||1506|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2702;GNOMADAF_grpmax=0.4393;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:31;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.20\tGT:DP:AD:GQ:PL:RNC\t0/1:41:19,22:31:31,0,39:..", 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"chr21\t16150\tchr21_16150_T_C\tT\tC\t40\t.\tAF=0.5;AQ=40;CSQ=C|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||4576|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000467112|retained_intron|||||||||||4782|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|||||||||||2344|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||1364|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||1410|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||1428|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||1428|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1938;GNOMADAF_grpmax=0.4724;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:40;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:42:22,20:40:40,0,53:..", 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"chr21\t16390\tchr21_16390_A_C\tA\tC\t39\t.\tAF=0.5;AQ=39;CSQ=C|downstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||4816|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000467112|retained_intron|||||||||||4542|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|||||||||||2104|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||1124|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|||||||||||1170|1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||1188|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||,C|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding|||||||||||1188|1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2293;GNOMADAF_grpmax=0.472;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:40;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:41:20,20:40:39,0,52:..", 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"chr21\t19052\tchr21_19052_G_A\tG\tA\t43\t.\tAF=0.5;AQ=43;CSQ=A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay|2/9||ENST00000483896.5:c.*31G>A||240|||||||1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|5|-35|5|33|0.00|0.01|0.01|0.00|RRP1|,A|intron_variant&non_coding_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined||1/5|ENST00000475534.5:n.184-299G>A|||||||||1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|5|-35|5|33|0.00|0.01|0.01|0.00|RRP1|,A|intron_variant&non_coding_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron||1/2|ENST00000492638.1:n.187-299G>A|||||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|5|-35|5|33|0.00|0.01|0.01|0.00|RRP1|,A|intron_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding||1/10|ENST00000497547.2:c.134-299G>A|||||||||1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|5|-35|5|33|0.00|0.01|0.01|0.00|RRP1|,A|non_coding_transcript_exon_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|1/2||ENST00000473988.1:n.559G>A||559|||||||1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|5|-35|5|33|0.00|0.01|0.01|0.00|RRP1|,A|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000467112|retained_intron|||||||||||1880|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|5|-35|5|33|0.00|0.01|0.01|0.00|RRP1|;FOUND_IN=deepvariant;GNOMADAF=0.1838;GNOMADAF_grpmax=0.4705;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:43;RankResult=-12|0|0|1|0|0|3|0|0|1;RankScore=amusingmarmoset:-7.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3793103448275862;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:35:15,20:43:43,0,52:..", 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"chr21\t19727\tchr21_19727_A_G\tA\tG\t32\t.\tAF=0.5;AQ=32;CSQ=G|downstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000473988|retained_intron|||||||||||314|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|-37|-40|42|-40|0.00|0.00|0.00|0.00|RRP1|,G|intron_variant&NMD_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay||3/8|ENST00000483896.5:c.*119+294A>G|||||||||1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|-37|-40|42|-40|0.00|0.00|0.00|0.00|RRP1|,G|intron_variant&non_coding_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined||2/5|ENST00000475534.5:n.266+294A>G|||||||||1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|-37|-40|42|-40|0.00|0.00|0.00|0.00|RRP1|,G|intron_variant&non_coding_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron||2/2|ENST00000492638.1:n.269+294A>G|||||||||1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|-37|-40|42|-40|0.00|0.00|0.00|0.00|RRP1|,G|intron_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding||2/10|ENST00000497547.2:c.216+294A>G|||||||||1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|-37|-40|42|-40|0.00|0.00|0.00|0.00|RRP1|,G|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000467112|retained_intron|||||||||||1205|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|-37|-40|42|-40|0.00|0.00|0.00|0.00|RRP1|;FOUND_IN=deepvariant;GNOMADAF=0.2179;GNOMADAF_grpmax=0.4707;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:32;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:37:24,13:32:32,0,53:..", 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"chr21\t24612\tchr21_24612_C_T\tC\tT\t43\t.\tAF=0.5;AQ=43;CSQ=T|downstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||3192|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|28|-20|4|20|0.00|0.00|0.00|0.00|RRP1|,T|intron_variant&NMD_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay||6/8|ENST00000483896.5:c.*326-811C>T|||||||||1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|28|-20|4|20|0.00|0.00|0.00|0.00|RRP1|,T|intron_variant&non_coding_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000467112|retained_intron||2/7|ENST00000467112.5:n.537-811C>T|||||||||1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|28|-20|4|20|0.00|0.00|0.00|0.00|RRP1|,T|intron_variant&non_coding_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined||5/5|ENST00000475534.5:n.473-811C>T|||||||||1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|28|-20|4|20|0.00|0.00|0.00|0.00|RRP1|,T|intron_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding||5/10|ENST00000497547.2:c.423-811C>T|||||||||1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|28|-20|4|20|0.00|0.00|0.00|0.00|RRP1|,T|upstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000471909|protein_coding_CDS_not_defined|||||||||||750|1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|28|-20|4|20|0.00|0.00|0.00|0.00|RRP1|;FOUND_IN=deepvariant;GNOMADAF=0.1712;GNOMADAF_grpmax=0.4701;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:43;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:35:16,19:43:43,0,53:..", 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"chr21\t25576\tchr21_25576_G_A\tG\tA\t44\t.\tAF=0.5;AQ=44;CSQ=A|downstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000475534|protein_coding_CDS_not_defined|||||||||||38|1|||||3||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|2|34|-28|-39|0.00|0.00|0.00|0.00|RRP1|,A|downstream_gene_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000492638|retained_intron|||||||||||4156|1|||||2||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|2|34|-28|-39|0.00|0.00|0.00|0.00|RRP1|,A|intron_variant&NMD_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000483896|nonsense_mediated_decay||7/8|ENST00000483896.5:c.*455+24G>A|||||||||1|||||3|||ENSP00000426898|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|2|34|-28|-39|0.00|0.00|0.00|0.00|RRP1|,A|intron_variant&non_coding_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000467112|retained_intron||3/7|ENST00000467112.5:n.666+24G>A|||||||||1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|2|34|-28|-39|0.00|0.00|0.00|0.00|RRP1|,A|intron_variant&non_coding_transcript_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000471909|protein_coding_CDS_not_defined||1/5|ENST00000471909.1:n.191+24G>A|||||||||1|||||1||||||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|2|34|-28|-39|0.00|0.00|0.00|0.00|RRP1|,A|intron_variant|MODIFIER|RRP1|ENSG00000160214|Transcript|ENST00000497547|protein_coding||6/10|ENST00000497547.2:c.552+24G>A|||||||||1||||YES|1|||ENSP00000417464|||||minimal_reference.sorted.gtf.gz||||||||||0.649|0.00|2|34|-28|-39|0.00|0.00|0.00|0.00|RRP1|;FOUND_IN=deepvariant;GNOMADAF=0.217;GNOMADAF_grpmax=0.4706;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:44;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.00\tGT:DP:AD:GQ:PL:RNC\t0/1:38:19,19:44:44,0,55:..", 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"chr21\t4443\tchr21_4443_CGCGCGGGGCGGG_C\tCGCGCGGGGCGGG\tC\t24\t.\tAF=1;AQ=24;CSQ=-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000291568|protein_coding|||||||||||135|-1||||YES|1|||ENSP00000291568|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000480147|retained_intron|||||||||||175|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000639959|protein_coding|||||||||||205|-1|||||5|||ENSP00000492123|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000640406|protein_coding|||||||||||125|-1|||||2|||ENSP00000492672|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000675996|protein_coding_CDS_not_defined|||||||||||113|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3698;GNOMADAF_grpmax=0.6847;GeneticModels=amusingmarmoset:AR_hom;ModelScore=amusingmarmoset:21;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.20\tGT:DP:AD:GQ:PL:RNC\t1/1:28:0,27:21:24,24,0:..", 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"chr21\t4984\tchr21_4984_CT_C;chr21_4984_CTT_C\tCT\tC\t21\t.\tAF=0.5;AQ=21;CSQ=-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000291568|protein_coding|||||||||||676|-1||||YES|1|||ENSP00000291568|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000480147|retained_intron|||||||||||716|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000639959|protein_coding|||||||||||746|-1|||||5|||ENSP00000492123|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000640406|protein_coding|||||||||||666|-1|||||2|||ENSP00000492672|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000675996|protein_coding_CDS_not_defined|||||||||||654|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:15;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069;most_severe_pli=0.20\tGT:DP:AD:GQ:PL:RNC\t1/0:41:6,15:15:24,21,21:..", 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"chr21\t4984\tchr21_4984_CT_C;chr21_4984_CTT_C\tCTT\tC\t21\t.\tAF=0.5;AQ=21;CSQ=-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000291568|protein_coding|||||||||||676|-1||||YES|1|||ENSP00000291568|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000480147|retained_intron|||||||||||716|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000639959|protein_coding|||||||||||746|-1|||||5|||ENSP00000492123|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000640406|protein_coding|||||||||||666|-1|||||2|||ENSP00000492672|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000675996|protein_coding_CDS_not_defined|||||||||||654|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:15;RankResult=4|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:6.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.603448275862069;most_severe_pli=0.20\tGT:DP:AD:GQ:PL:RNC\t0/1:41:6,17:15:24,21,24:..", 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"chr21\t4992\tchr21_4992_T_C\tT\tC\t25\t.\tAF=0.5;AQ=25;CSQ=C|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000291568|protein_coding|||||||||||683|-1||||YES|1|||ENSP00000291568|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,C|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000480147|retained_intron|||||||||||723|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,C|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000639959|protein_coding|||||||||||753|-1|||||5|||ENSP00000492123|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,C|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000640406|protein_coding|||||||||||673|-1|||||2|||ENSP00000492672|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,C|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000675996|protein_coding_CDS_not_defined|||||||||||661|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2147;GNOMADAF_grpmax=0.556;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:25;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.20\tGT:DP:AD:GQ:PL:RNC\t0/1:43:24,18:25:25,0,39:..", 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"chr21\t5065\tchr21_5065_T_C\tT\tC\t28\t.\tAF=0.5;AQ=28;CSQ=C|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000291568|protein_coding|||||||||||756|-1||||YES|1|||ENSP00000291568|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,C|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000480147|retained_intron|||||||||||796|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,C|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000639959|protein_coding|||||||||||826|-1|||||5|||ENSP00000492123|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,C|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000640406|protein_coding|||||||||||746|-1|||||2|||ENSP00000492672|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,C|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000675996|protein_coding_CDS_not_defined|||||||||||734|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2401;GNOMADAF_grpmax=0.5289;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:28;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.20\tGT:DP:AD:GQ:PL:RNC\t0/1:37:17,18:28:28,0,34:..", 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"chr21\t5072\tchr21_5072_G_A\tG\tA\t35\t.\tAF=0.5;AQ=35;CSQ=A|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000291568|protein_coding|||||||||||763|-1||||YES|1|||ENSP00000291568|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,A|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000480147|retained_intron|||||||||||803|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,A|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000639959|protein_coding|||||||||||833|-1|||||5|||ENSP00000492123|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,A|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000640406|protein_coding|||||||||||753|-1|||||2|||ENSP00000492672|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,A|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000675996|protein_coding_CDS_not_defined|||||||||||741|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2586;GNOMADAF_grpmax=0.5159;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:35;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.20\tGT:DP:AD:GQ:PL:RNC\t0/1:37:17,20:35:35,0,42:..", + 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"chr21\t5289\tchr21_5289_C_CT;chr21_5289_CT_C\tCT\tC\t10\t.\tAF=0.5;AQ=10;CSQ=-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000291568|protein_coding|||||||||||981|-1||||YES|1|||ENSP00000291568|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000480147|retained_intron|||||||||||1021|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000639959|protein_coding|||||||||||1051|-1|||||5|||ENSP00000492123|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000640406|protein_coding|||||||||||971|-1|||||2|||ENSP00000492672|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,-|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000675996|protein_coding_CDS_not_defined|||||||||||959|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3726;GNOMADAF_grpmax=0.5933;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:7;RankResult=-12|0|0|1|0|0|-2|0|0|0;RankScore=amusingmarmoset:-13.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.27586206896551724;most_severe_pli=0.20\tGT:DP:AD:GQ:PL:RNC\t0/1:26:12,4:7:21,10,23:..", 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"chr21\t5601\tchr21_5601_C_CT\tC\tCT\t24\t.\tAF=0.5;AQ=24;CSQ=T|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000291568|protein_coding|||||||||||1292|-1||||YES|1|||ENSP00000291568|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,T|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000480147|retained_intron|||||||||||1332|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,T|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000639959|protein_coding|||||||||||1362|-1|||||5|||ENSP00000492123|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,T|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000640406|protein_coding|||||||||||1282|-1|||||2|||ENSP00000492672|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,T|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000675996|protein_coding_CDS_not_defined|||||||||||1270|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0908;GNOMADAF_grpmax=0.1064;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:21;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.20\tGT:DP:AD:GQ:PL:RNC\t0/1:36:25,11:21:24,0,24:..", 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"chr21\t6475\tchr21_6475_T_G\tT\tG\t36\t.\tAF=0.5;AQ=36;CSQ=G|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000291568|protein_coding|||||||||||2166|-1||||YES|1|||ENSP00000291568|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,G|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000480147|retained_intron|||||||||||2206|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,G|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000639959|protein_coding|||||||||||2236|-1|||||5|||ENSP00000492123|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,G|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000640406|protein_coding|||||||||||2156|-1|||||2|||ENSP00000492672|||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,G|upstream_gene_variant|MODIFIER|CSTB|ENSG00000160213|Transcript|ENST00000675996|protein_coding_CDS_not_defined|||||||||||2144|-1|||||||||||||minimal_reference.sorted.gtf.gz||||||||||0.662|0.20||||||||||,G|upstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||4649|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.3234;GNOMADAF_grpmax=0.5562;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:37;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414;most_severe_pli=0.20\tGT:DP:AD:GQ:PL:RNC\t0/1:41:25,16:37:36,0,52:..", 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"chr21\t9952\tchr21_9952_G_A\tG\tA\t39\t.\tAF=0.5;AQ=39;CSQ=A|upstream_gene_variant|MODIFIER|TMEM97P1|ENSG00000234030|Transcript|ENST00000452969|processed_pseudogene|||||||||||1172|1||||YES|||||||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.4711;GNOMADAF_grpmax=0.6929;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:39;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414\tGT:DP:AD:GQ:PL:RNC\t0/1:40:16,24:39:39,0,45:..", + "chr7\t12003\tchr7_12003_G_A\tG\tA\t38\t.\tAF=0.5;AQ=38;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0070846;GNOMADAF_grpmax=0.010148;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:38;RankResult=1|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:5.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.5862068965517241\tGT:DP:AD:GQ:PL:RNC\t0/1:32:16,16:38:38,0,55:..", + "chr7\t2402\tchr7_2402_CAT_C\tCAT\tC\t19\t.\tAF=0.5;AQ=19;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2187;GNOMADAF_grpmax=0.2593;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:18;RankResult=-12|0|0|1|0|0|1|0|0|0;RankScore=amusingmarmoset:-10.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3275862068965517\tGT:DP:AD:GQ:PL:RNC\t0/1:39:26,13:18:19,0,21:..", + "chr7\t2429\tchr7_2429_ATT_A\tATT\tA\t21\t.\tAF=0.5;AQ=21;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.1181;GNOMADAF_grpmax=0.1862;GeneticModels=amusingmarmoset:AD;ModelScore=amusingmarmoset:20;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414\tGT:DP:AD:GQ:PL:RNC\t0/1:34:17,16:20:21,0,24:..", + "chrX\t13398\tchrX_13398_A_C\tA\tC\t49\t.\tAF=1;AQ=49;CSQ=C|downstream_gene_variant|MODIFIER|SOX3|ENSG00000134595|Transcript|ENST00000370536|protein_coding|||||||||||4588|-1||||YES||||ENSP00000359567|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:50;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:20:0,20:50:49,99,0:..", + "chrX\t13488\tchrX_13488_A_G\tA\tG\t47\t.\tAF=1;AQ=47;CSQ=G|downstream_gene_variant|MODIFIER|SOX3|ENSG00000134595|Transcript|ENST00000370536|protein_coding|||||||||||4498|-1||||YES||||ENSP00000359567|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:47;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:16:0,16:47:47,99,0:..", + "chrX\t21981\tchrX_21981_C_T\tC\tT\t45\t.\tAF=1;AQ=45;CSQ=T|upstream_gene_variant|MODIFIER|SOX3|ENSG00000134595|Transcript|ENST00000370536|protein_coding|||||||||||1911|-1||||YES||||ENSP00000359567|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:46;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:13:0,13:46:45,99,0:..", + "chrX\t24389\tchrX_24389_A_T\tA\tT\t48\t.\tAF=1;AQ=48;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=T|upstream_gene_variant|MODIFIER|SOX3|ENSG00000134595|Transcript|ENST00000370536|protein_coding|||||||||||4319|-1||||YES||||ENSP00000359567|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.0675;GNOMADAF_grpmax=0.1039;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:49;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414\tGT:DP:AD:GQ:PL:RNC\t1/1:20:0,20:49:48,99,0:..", + "chrX\t24455\tchrX_24455_TAA_T\tTAA\tT\t24\t.\tAF=1;AQ=24;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=-|upstream_gene_variant|MODIFIER|SOX3|ENSG00000134595|Transcript|ENST00000370536|protein_coding|||||||||||4386|-1||||YES||||ENSP00000359567|||||minimal_reference.sorted.gtf.gz|||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:25;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:16:0,15:25:24,99,0:..", + "chrX\t25195\tchrX_25195_GC_G\tGC\tG\t22\t.\tAF=1;AQ=22;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:23;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:8:0,8:23:22,99,0:..", + "chrX\t25198\tchrX_25198_AAACC_A\tAAACC\tA\t22\t.\tAF=1;AQ=22;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:22;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:8:0,8:22:22,99,0:..", + "chrX\t25737\tchrX_25737_AT_A\tAT\tA\t24\t.\tAF=1;AQ=24;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:25;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:19:0,19:25:24,99,0:..", + "chrX\t27738\tchrX_27738_GA_G\tGA\tG\t40\t.\tAF=1;AQ=40;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:40;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:19:0,19:40:40,99,0:..", + "chrX\t29789\tchrX_29789_C_T\tC\tT\t45\t.\tAF=1;AQ=45;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:46;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:14:0,14:46:45,99,0:..", + "chrX\t29963\tchrX_29963_A_G\tA\tG\t49\t.\tAF=1;AQ=49;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:49;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:19:0,19:49:49,99,0:..", + "chrX\t30141\tchrX_30141_TATTTA_T\tTATTTA\tT\t24\t.\tAF=1;AQ=24;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:25;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:17:2,15:25:24,99,0:..", + "chrX\t30247\tchrX_30247_C_CTTT\tC\tCTTT\t36\t.\tAF=1;AQ=36;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=TTT|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:36;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:21:0,20:36:36,99,0:..", + "chrX\t30902\tchrX_30902_A_G\tA\tG\t46\t.\tAF=1;AQ=46;AZ;AZLENGTH=6514;AZMARKERS=2;AZQUAL=16.3;AZTYPE=ND;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2361;GNOMADAF_grpmax=0.4128;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:46;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414\tGT:DP:AD:GQ:PL:RNC\t1/1:14:0,14:46:46,99,0:..", + "chrX\t31437\tchrX_31437_TAA_T\tTAA\tT\t24\t.\tAF=1;AQ=24;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:25;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:15:0,14:25:24,99,0:..", + "chrX\t31470\tchrX_31470_C_CAGAGT\tC\tCAGAGT\t24\t.\tAF=1;AQ=24;CSQ=AGAGT|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:25;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:11:0,11:25:24,99,0:..", + "chrX\t31568\tchrX_31568_G_A\tG\tA\t38\t.\tAF=1;AQ=38;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:38;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:8:0,8:38:38,99,0:..", + "chrX\t31690\tchrX_31690_C_G\tC\tG\t23\t.\tAF=1;AQ=23;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:24;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:10:1,9:24:23,99,0:..", + "chrX\t31720\tchrX_31720_T_A\tT\tA\t23\t.\tAF=1;AQ=23;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:24;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:8:0,8:24:23,99,0:..", + "chrX\t32183\tchrX_32183_A_G\tA\tG\t44\t.\tAF=1;AQ=44;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:44;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:12:0,12:44:44,99,0:..", + "chrX\t32499\tchrX_32499_G_A\tG\tA\t48\t.\tAF=1;AQ=48;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:48;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:18:0,18:48:48,99,0:..", + "chrX\t32722\tchrX_32722_C_T\tC\tT\t41\t.\tAF=1;AQ=41;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:42;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:10:0,10:42:41,99,0:..", + "chrX\t33827\tchrX_33827_C_G\tC\tG\t48\t.\tAF=1;AQ=48;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:49;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:18:0,18:49:48,99,0:..", + "chrX\t34146\tchrX_34146_A_G\tA\tG\t44\t.\tAF=1;AQ=44;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:45;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:14:0,14:45:44,99,0:..", + "chrX\t34816\tchrX_34816_TTTTG_T\tTTTTG\tT\t24\t.\tAF=1;AQ=24;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:24;RankResult=4|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.6379310344827587\tGT:DP:AD:GQ:PL:RNC\t1/1:8:0,8:24:24,99,0:..", + "chrX\t8295\tchrX_8295_C_CAA\tC\tCAA\t24\t.\tAF=1;AQ=24;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||||||||||||||||||||||||||||||||||||||;FOUND_IN=deepvariant;GNOMADAF=0.2687;GNOMADAF_grpmax=0.3335;GeneticModels=amusingmarmoset:XR|XD;ModelScore=amusingmarmoset:25;RankResult=-12|0|0|1|0|0|3|0|0|0;RankScore=amusingmarmoset:-8.0;RankScoreMinMax=amusingmarmoset:-29.0:29.0;RankScoreNormalized=amusingmarmoset:0.3620689655172414\tGT:DP:AD:GQ:PL:RNC\t1/1:15:2,11:25:24,99,0:.." + ] + }, + { + "amusingmarmoset_sv.vcf.gz": [ + "chr12:26561-26677\tTATTAATATATATACACACATATGTGTATATATATATTAATATATATACACACATATGTGTATATATATACACACATATGTGTATATATATACACATATATGTATATATATAAATAT*>[TTA]\tSVTYPE=DEL\tSVLEN=-116\tGT=[ACC13778A1:TTA/TTA]", + "chr12:26609-26697\tN*>[]\tSVTYPE=DEL\tSVLEN=88\tGT=[ACC13778A1:/]", + "chr12:38725-38725\tN*>[]chr16:5924]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chr1:27483-27483\tN*>[]chr16:13001]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chr1:4717-4717\tC*>[C]chr1:4800]]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chr1:4717-4822\tCCAAAGTGCTGAGATTACAAGCATGAGCCACTGTACCTGGTGGTTATTATAATTTTAAACAGGACAGTCAGGGAAGACCTCACAAAGTAGGTGGTGGGGGCTGGGC*>[CTGTGAGGTCTTCCCTGACTGTCCTGTTTAAAATTATAATAACCACCAGGT]\tSVTYPE=DEL\tSVLEN=-105\tGT=[ACC13778A1:CTGTGAGGTCTTCCCTGACTGTCCTGTTTAAAATTATAATAACCACCAGGT/CTGTGAGGTCTTCCCTGACTGTCCTGTTTAAAATTATAATAACCACCAGGT]", + "chr1:4718-4801\tN*>[]\tSVTYPE=INV\tSVLEN=83\tGT=[ACC13778A1:/]", + "chr1:4794-5040\tN*>[]\tSVTYPE=INV\tSVLEN=246\tGT=[ACC13778A1:/]", + "chr20:11060-11111\tN*>[]\tSVTYPE=DUP:TANDEM\tSVLEN=51\tGT=[ACC13778A1:N/]", + "chr20:11083-11083\tC*>[CGCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT]\tSVTYPE=INS\tSVLEN=51\tGT=[ACC13778A1:C/CGCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT]", + "chr20:18401-25431\tC*>[]\tSVTYPE=DEL\tSVLEN=-7030\tGT=[ACC13778A1:C/]", + "chr20:18408-25464\tN*>[]\tSVTYPE=DUP:TANDEM\tSVLEN=7056\tGT=[ACC13778A1:/]", + "chr20:32084-32084\tC*>[]\tSVTYPE=INS\tSVLEN=null\tGT=[ACC13778A1:C/]", + "chr21:15175-15253\tCACCCACTGTGTGCGTGCAACATACCCACTGTGTGCCTGACACTGTGTGCATGCGACATACCCACTGTGTGCGAGACAT*>[C]\tSVTYPE=DEL\tSVLEN=-78\tGT=[ACC13778A1:CACCCACTGTGTGCGTGCAACATACCCACTGTGTGCCTGACACTGTGTGCATGCGACATACCCACTGTGTGCGAGACAT/C]", + "chr21:15186-15331\tN*>[]\tSVTYPE=DEL\tSVLEN=145\tGT=[ACC13778A1:N/]", + "chr21:9825-9825\tN*>[]chrX:35001]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chr7:11868-11868\tN*>[]chr21:16590]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:N/]", + "chr7:6479-6479\tG*>[GCCTTTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCTGCACTGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAATGAGAAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTCTCCGACCGGCAGCCACTCCGTCAGGGAGGGAGGTGGGGGTCAGCCCGCGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGGGAGTCAGTCCCTGCCCGGCCGCCGCCCTGTCCGGAGGGTGGGGGGCGCCTCTGCCCAGCCGCCCCTTCTGGGAAGTGAGGAGCC]\tSVTYPE=INS\tSVLEN=325\tGT=[ACC13778A1:G/GCCTTTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCTGCACTGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAATGAGAAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTCTCCGACCGGCAGCCACTCCGTCAGGGAGGGAGGTGGGGGTCAGCCCGCGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGGGAGTCAGTCCCTGCCCGGCCGCCGCCCTGTCCGGAGGGTGGGGGGCGCCTCTGCCCAGCCGCCCCTTCTGGGAAGTGAGGAGCC]", + "chr7:9432-9432\tN*>[]chr7:11868]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:N/]", + "chrM:1-1\tN*>[]chrM:16569]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chrM:1-17000\tN*>[]\tSVTYPE=DUP\tSVLEN=17000\tGT=[ACC13778A1:./]", + "chrX:29503-29522\tAATAAAAATGTGTCACACTT*>[ATTTATTAATAGACACATTTTTATTGAAGGTCTACTATAGGCCAGATATTCTTCAAGAACTTGGGGGTACA]\tSVTYPE=INS\tSVLEN=70\tGT=[ACC13778A1:ATTTATTAATAGACACATTTTTATTGAAGGTCTACTATAGGCCAGATATTCTTCAAGAACTTGGGGGTACA/ATTTATTAATAGACACATTTTTATTGAAGGTCTACTATAGGCCAGATATTCTTCAAGAACTTGGGGGTACA]" + ], + "amusingmarmoset_sv_ranked_clinical.vcf.gz": [ + + ], + "amusingmarmoset_sv_ranked_research.vcf.gz": [ + "chr12:26561-26677\tTATTAATATATATACACACATATGTGTATATATATATTAATATATATACACACATATGTGTATATATATACACACATATGTGTATATATATACACATATATGTATATATATAAATAT*>[TTA]\tSVTYPE=DEL\tSVLEN=-116\tGT=[ACC13778A1:TTA/TTA]", + "chr12:26609-26697\tN*>[]\tSVTYPE=DEL\tSVLEN=88\tGT=[ACC13778A1:/]", + "chr12:38725-38725\tN*>[]chr16:5924]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chr1:27483-27483\tN*>[]chr16:13001]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chr1:4717-4717\tC*>[C]chr1:4800]]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chr1:4717-4822\tCCAAAGTGCTGAGATTACAAGCATGAGCCACTGTACCTGGTGGTTATTATAATTTTAAACAGGACAGTCAGGGAAGACCTCACAAAGTAGGTGGTGGGGGCTGGGC*>[CTGTGAGGTCTTCCCTGACTGTCCTGTTTAAAATTATAATAACCACCAGGT]\tSVTYPE=DEL\tSVLEN=-105\tGT=[ACC13778A1:CTGTGAGGTCTTCCCTGACTGTCCTGTTTAAAATTATAATAACCACCAGGT/CTGTGAGGTCTTCCCTGACTGTCCTGTTTAAAATTATAATAACCACCAGGT]", + "chr1:4718-4801\tN*>[]\tSVTYPE=INV\tSVLEN=83\tGT=[ACC13778A1:/]", + "chr1:4794-5040\tN*>[]\tSVTYPE=INV\tSVLEN=246\tGT=[ACC13778A1:/]", + "chr20:11060-11111\tN*>[]\tSVTYPE=DUP:TANDEM\tSVLEN=51\tGT=[ACC13778A1:N/]", + "chr20:11083-11083\tC*>[CGCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT]\tSVTYPE=INS\tSVLEN=51\tGT=[ACC13778A1:C/CGCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT]", + "chr20:18401-25431\tC*>[]\tSVTYPE=DEL\tSVLEN=-7030\tGT=[ACC13778A1:C/]", + "chr20:18408-25464\tN*>[]\tSVTYPE=DUP:TANDEM\tSVLEN=7056\tGT=[ACC13778A1:/]", + "chr20:32084-32084\tC*>[]\tSVTYPE=INS\tSVLEN=null\tGT=[ACC13778A1:C/]", + "chr21:15175-15253\tCACCCACTGTGTGCGTGCAACATACCCACTGTGTGCCTGACACTGTGTGCATGCGACATACCCACTGTGTGCGAGACAT*>[C]\tSVTYPE=DEL\tSVLEN=-78\tGT=[ACC13778A1:CACCCACTGTGTGCGTGCAACATACCCACTGTGTGCCTGACACTGTGTGCATGCGACATACCCACTGTGTGCGAGACAT/C]", + "chr21:15186-15331\tN*>[]\tSVTYPE=DEL\tSVLEN=145\tGT=[ACC13778A1:N/]", + "chr21:9825-9825\tN*>[]chrX:35001]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chr7:11868-11868\tN*>[]chr21:16590]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:N/]", + "chr7:6479-6479\tG*>[GCCTTTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCTGCACTGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAATGAGAAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTCTCCGACCGGCAGCCACTCCGTCAGGGAGGGAGGTGGGGGTCAGCCCGCGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGGGAGTCAGTCCCTGCCCGGCCGCCGCCCTGTCCGGAGGGTGGGGGGCGCCTCTGCCCAGCCGCCCCTTCTGGGAAGTGAGGAGCC]\tSVTYPE=INS\tSVLEN=325\tGT=[ACC13778A1:G/GCCTTTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCTGCACTGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAATGAGAAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTCTCCGACCGGCAGCCACTCCGTCAGGGAGGGAGGTGGGGGTCAGCCCGCGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGGGAGTCAGTCCCTGCCCGGCCGCCGCCCTGTCCGGAGGGTGGGGGGCGCCTCTGCCCAGCCGCCCCTTCTGGGAAGTGAGGAGCC]", + "chr7:9432-9432\tN*>[]chr7:11868]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:N/]", + "chrM:1-1\tN*>[]chrM:16569]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chrM:1-17000\tN*>[]\tSVTYPE=DUP\tSVLEN=17000\tGT=[ACC13778A1:./]", + "chrX:29503-29522\tAATAAAAATGTGTCACACTT*>[ATTTATTAATAGACACATTTTTATTGAAGGTCTACTATAGGCCAGATATTCTTCAAGAACTTGGGGGTACA]\tSVTYPE=INS\tSVLEN=70\tGT=[ACC13778A1:ATTTATTAATAGACACATTTTTATTGAAGGTCTACTATAGGCCAGATATTCTTCAAGAACTTGGGGGTACA/ATTTATTAATAGACACATTTTTATTGAAGGTCTACTATAGGCCAGATATTCTTCAAGAACTTGGGGGTACA]" + ], + "amusingmarmoset_svdbquery_vep.vcf.gz": [ + "chr12:26561-26677\tTATTAATATATATACACACATATGTGTATATATATATTAATATATATACACACATATGTGTATATATATACACACATATGTGTATATATATACACATATATGTATATATATAAATAT*>[TTA]\tSVTYPE=DEL\tSVLEN=-116\tGT=[ACC13778A1:TTA/TTA]", + "chr12:26609-26697\tN*>[]\tSVTYPE=DEL\tSVLEN=88\tGT=[ACC13778A1:/]", + "chr12:38725-38725\tN*>[]chr16:5924]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chr1:27483-27483\tN*>[]chr16:13001]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chr1:4717-4717\tC*>[C]chr1:4800]]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chr1:4717-4822\tCCAAAGTGCTGAGATTACAAGCATGAGCCACTGTACCTGGTGGTTATTATAATTTTAAACAGGACAGTCAGGGAAGACCTCACAAAGTAGGTGGTGGGGGCTGGGC*>[CTGTGAGGTCTTCCCTGACTGTCCTGTTTAAAATTATAATAACCACCAGGT]\tSVTYPE=DEL\tSVLEN=-105\tGT=[ACC13778A1:CTGTGAGGTCTTCCCTGACTGTCCTGTTTAAAATTATAATAACCACCAGGT/CTGTGAGGTCTTCCCTGACTGTCCTGTTTAAAATTATAATAACCACCAGGT]", + "chr1:4718-4801\tN*>[]\tSVTYPE=INV\tSVLEN=83\tGT=[ACC13778A1:/]", + "chr1:4794-5040\tN*>[]\tSVTYPE=INV\tSVLEN=246\tGT=[ACC13778A1:/]", + "chr20:11060-11111\tN*>[]\tSVTYPE=DUP:TANDEM\tSVLEN=51\tGT=[ACC13778A1:N/]", + "chr20:11083-11083\tC*>[CGCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT]\tSVTYPE=INS\tSVLEN=51\tGT=[ACC13778A1:C/CGCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT]", + "chr20:18401-25431\tC*>[]\tSVTYPE=DEL\tSVLEN=-7030\tGT=[ACC13778A1:C/]", + "chr20:18408-25464\tN*>[]\tSVTYPE=DUP:TANDEM\tSVLEN=7056\tGT=[ACC13778A1:/]", + "chr20:32084-32084\tC*>[]\tSVTYPE=INS\tSVLEN=null\tGT=[ACC13778A1:C/]", + "chr21:15175-15253\tCACCCACTGTGTGCGTGCAACATACCCACTGTGTGCCTGACACTGTGTGCATGCGACATACCCACTGTGTGCGAGACAT*>[C]\tSVTYPE=DEL\tSVLEN=-78\tGT=[ACC13778A1:CACCCACTGTGTGCGTGCAACATACCCACTGTGTGCCTGACACTGTGTGCATGCGACATACCCACTGTGTGCGAGACAT/C]", + "chr21:15186-15331\tN*>[]\tSVTYPE=DEL\tSVLEN=145\tGT=[ACC13778A1:N/]", + "chr21:9825-9825\tN*>[]chrX:35001]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chr7:11868-11868\tN*>[]chr21:16590]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:N/]", + "chr7:6479-6479\tG*>[GCCTTTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCTGCACTGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAATGAGAAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTCTCCGACCGGCAGCCACTCCGTCAGGGAGGGAGGTGGGGGTCAGCCCGCGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGGGAGTCAGTCCCTGCCCGGCCGCCGCCCTGTCCGGAGGGTGGGGGGCGCCTCTGCCCAGCCGCCCCTTCTGGGAAGTGAGGAGCC]\tSVTYPE=INS\tSVLEN=325\tGT=[ACC13778A1:G/GCCTTTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCTGCACTGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAATGAGAAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTCTCCGACCGGCAGCCACTCCGTCAGGGAGGGAGGTGGGGGTCAGCCCGCGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGGGAGTCAGTCCCTGCCCGGCCGCCGCCCTGTCCGGAGGGTGGGGGGCGCCTCTGCCCAGCCGCCCCTTCTGGGAAGTGAGGAGCC]", + "chr7:9432-9432\tN*>[]chr7:11868]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:N/]", + "chrM:1-1\tN*>[]chrM:16569]N]\tSVTYPE=BND\tSVLEN=null\tGT=[ACC13778A1:/]", + "chrM:1-17000\tN*>[]\tSVTYPE=DUP\tSVLEN=17000\tGT=[ACC13778A1:./]", + "chrX:29503-29522\tAATAAAAATGTGTCACACTT*>[ATTTATTAATAGACACATTTTTATTGAAGGTCTACTATAGGCCAGATATTCTTCAAGAACTTGGGGGTACA]\tSVTYPE=INS\tSVLEN=70\tGT=[ACC13778A1:ATTTATTAATAGACACATTTTTATTGAAGGTCTACTATAGGCCAGATATTCTTCAAGAACTTGGGGGTACA/ATTTATTAATAGACACATTTTTATTGAAGGTCTACTATAGGCCAGATATTCTTCAAGAACTTGGGGGTACA]" + ] + } ], - "timestamp": "2026-08-27T17:06:08.418379568", + "timestamp": "2026-08-28T17:05:30.297331471", "meta": { "nf-test": "0.9.5", "nextflow": "26.04.6"