{"disease": {"name": "Ewing sarcoma", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "es"}, "updated_at": "2026-09-18", "genome_builds": ["hg19"], "cohort_count": 3, "cohort_count_status": "observed", "cohort_count_unit": "cohorts", "evaluable_patients": null, "evaluable_patients_status": "unknown", "evaluable_patients_unit": "patients", "alteration_types": ["SNV", "small indel", "amplification", "deep deletion"], "genes": [{"gene": "EWSR1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 103, "frequency": 1.94, "cohort_count": 2, "frequency_range": {"min": 1.79, "max": 1.94}, "major_variants": ["G591* (n=1)", "T22I (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Ewing Sarcoma (MSK, Cancer Research 2024)", "source_url": "https://www.cbioportal.org/study/summary?id=es_dsrct_msk_2023", "source_record_id": "es_dsrct_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Ewing Sarcoma (DFCI, Cancer Discov 2014), 10/103 patients (9.71%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "es_dfarber_broad_2014", "cohort_name": "Pediatric Ewing Sarcoma (DFCI, Cancer Discov 2014)", "altered": 10, "tested": 103, "frequency": 9.71, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "107/107", "coverage_note": null, "source_id": "es_dfarber_broad_2014", "is_reference": true}, {"cohort": "es_iocurie_2014", "cohort_name": "Ewing Sarcoma (Institut Curie, Cancer Discov 2014)", "altered": 18, "tested": 112, "frequency": 16.07, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "112/115", "coverage_note": null, "source_id": "es_iocurie_2014", "is_reference": false}, {"cohort": "es_dsrct_msk_2023", "cohort_name": "Ewing Sarcoma (MSK, Cancer Research 2024)", "altered": 18, "tested": 277, "frequency": 6.5, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "290/290", "coverage_note": null, "source_id": "es_dsrct_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.67, "width": 31.9, "reference": 32.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 103, "frequency": 9.71, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TP53", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 12, "tested": 103, "frequency": 11.65, "cohort_count": 3, "frequency_range": {"min": 7.14, "max": 11.65}, "major_variants": ["C135F (n=2)", "R175H (n=2)", "X125_splice (n=1)", "C176Y (n=1)", "F270L (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "es_dfarber_broad_2014", "is_demo": false, "assay_coverage": {"patients_with_calls": 103, "patients_in_roster": 103, "frequencies_computed": true, "samples_sequenced": 107, "samples_in_study": 107, "hypermutated_patients": 0, "median_mutations_per_sample": 75, "reason": null}}, {"name": "Ewing Sarcoma (Institut Curie, Cancer Discov 2014)", "source": "cBioPortal", "accession": "es_iocurie_2014", "patients": {"value": 112, "status": "observed", "unit": "patients"}, "samples": {"value": 112, "status": "observed", "unit": "samples"}, "disease_subtype": "Ewing Sarcoma (Institut Curie, Cancer Discov 2014)", "assay_type": "exome or genome", "sequencing_method": "WES (112)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "es_iocurie_2014", "is_demo": false, "assay_coverage": {"patients_with_calls": 112, "patients_in_roster": 112, "frequencies_computed": true, "samples_sequenced": 112, "samples_in_study": 115, "hypermutated_patients": 0, "median_mutations_per_sample": 7.0, "reason": null}}, {"name": "Ewing Sarcoma (MSK, Cancer Research 2024)", "source": "cBioPortal", "accession": "es_dsrct_msk_2023", "patients": {"value": 277, "status": "observed", "unit": "patients"}, "samples": {"value": 290, "status": "observed", "unit": "samples"}, "disease_subtype": "Ewing Sarcoma (MSK, Cancer Research 2024)", "assay_type": "targeted panel", "sequencing_method": "IMPACT468 (130), IMPACT505 (101), IMPACT410 (48), IMPACT341 (11)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "panel genes only; per-gene denominators", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "es_dsrct_msk_2023", "is_demo": false, "assay_coverage": {"patients_with_calls": 277, "patients_in_roster": 277, "frequencies_computed": true, "samples_sequenced": 290, "samples_in_study": 290, "hypermutated_patients": 0, "median_mutations_per_sample": 1.0, "reason": null}}], "sources": [{"source_name": "cBioPortal · Pediatric Ewing Sarcoma (DFCI, Cancer Discov 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=es_dfarber_broad_2014", "source_record_id": "es_dfarber_broad_2014", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Ewing Sarcoma (Institut Curie, Cancer Discov 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=es_iocurie_2014", "source_record_id": "es_iocurie_2014", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Ewing Sarcoma (MSK, Cancer Research 2024)", "source_url": "https://www.cbioportal.org/study/summary?id=es_dsrct_msk_2023", "source_record_id": "es_dsrct_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "limitations": ["A cBioPortal public-API snapshot retrieved 2026-09-18; the page does not refresh source data at request time.", "Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.", "For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.", "Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.", "Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.", "Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.", "The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide."], "answer_block": ["In Pediatric Ewing Sarcoma (DFCI, Cancer Discov 2014) (103 sequenced patients, exome or genome), the most frequently altered of the 50 genes shown are TP53 11.65%, KMT2D 11.65%, STAG2 9.71%, EPPK1 9.71%, ZFHX3 7.77%. Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 10 are altered in under 2% of this cohort (EWSR1, FLI1, CD99, IGF1R, PARP1, CDKN2A, KDM1A, CDK4, ERG, NKX2-2): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "3 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "TP53 is mutated in 12 of 103 patients in Pediatric Ewing Sarcoma (DFCI, Cancer Discov 2014).", "numerator": 12, "denominator": 103, "frequency": 11.65, "cohorts": 3, "evidence_confidence": "moderate", "source": "es_dfarber_broad_2014", "retrieved_at": "2026-09-18"}, {"finding": "KMT2D is mutated in 12 of 103 patients in Pediatric Ewing Sarcoma (DFCI, Cancer Discov 2014).", "numerator": 12, "denominator": 103, "frequency": 11.65, "cohorts": 3, "evidence_confidence": "moderate", "source": "es_dfarber_broad_2014", "retrieved_at": "2026-09-18"}, {"finding": "STAG2 is mutated in 10 of 103 patients in Pediatric Ewing Sarcoma (DFCI, Cancer Discov 2014).", "numerator": 10, "denominator": 103, "frequency": 9.71, "cohorts": 3, "evidence_confidence": "moderate", "source": "es_dfarber_broad_2014", "retrieved_at": "2026-09-18"}], "research_gaps": [{"kind": "Structural variants", "text": "Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases."}, {"kind": "Context", "text": "Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four."}, {"kind": "Interpretation", "text": "Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts."}], "observations": [], "data_status": "PUBLIC SOURCE SNAPSHOT", "is_demo": false, "reference_cohort": "es_dfarber_broad_2014", "region_events": [], "matrix": [{"label": "EWSR1", "kind": "SNV / small indel", "gene": "EWSR1", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 1.94, "altered": 2, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 1.79, "altered": 2, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FLI1", "kind": "SNV / small indel", "gene": "FLI1", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CD99", "kind": "SNV / small indel", "gene": "CD99", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "IGF1R", "kind": "SNV / small indel", "gene": "IGF1R", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 0.97, "altered": 1, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 277, "note": null}]}, {"label": "PARP1", "kind": "SNV / small indel", "gene": "PARP1", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 0.97, "altered": 1, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "observed", "frequency": 0.36, "altered": 1, "tested": 277, "note": null}]}, {"label": "STAG2", "kind": "SNV / small indel", "gene": "STAG2", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 9.71, "altered": 10, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 16.07, "altered": 18, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "observed", "frequency": 6.5, "altered": 18, "tested": 277, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 11.65, "altered": 12, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 7.14, "altered": 8, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "observed", "frequency": 7.58, "altered": 21, "tested": 277, "note": null}]}, {"label": "CDKN2A", "kind": "SNV / small indel", "gene": "CDKN2A", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 0.97, "altered": 1, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "observed", "frequency": 1.44, "altered": 4, "tested": 277, "note": null}]}, {"label": "CDKN2A", "kind": "deep deletion", "gene": "CDKN2A", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "es_iocurie_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "es_dsrct_msk_2023", "status": "observed", "frequency": 4.69, "altered": 13, "tested": 277, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KDM1A", "kind": "SNV / small indel", "gene": "KDM1A", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CDK4", "kind": "SNV / small indel", "gene": "CDK4", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 277, "note": null}]}, {"label": "ERG", "kind": "SNV / small indel", "gene": "ERG", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "observed", "frequency": 1.08, "altered": 3, "tested": 277, "note": null}]}, {"label": "NKX2-2", "kind": "SNV / small indel", "gene": "NKX2-2", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 11.65, "altered": 12, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 1.79, "altered": 2, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "observed", "frequency": 1.08, "altered": 3, "tested": 277, "note": null}]}, {"label": "EPPK1", "kind": "SNV / small indel", "gene": "EPPK1", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 9.71, "altered": 10, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ZFHX3", "kind": "SNV / small indel", "gene": "ZFHX3", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 7.77, "altered": 8, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "observed", "frequency": 1.13, "altered": 3, "tested": 266, "note": null}]}, {"label": "PCDH15", "kind": "SNV / small indel", "gene": "PCDH15", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 7.77, "altered": 8, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NPHP4", "kind": "SNV / small indel", "gene": "NPHP4", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 7.77, "altered": 8, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "BSN", "kind": "SNV / small indel", "gene": "BSN", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 7.77, "altered": 8, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "THBS4", "kind": "SNV / small indel", "gene": "THBS4", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 6.8, "altered": 7, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SPEN", "kind": "SNV / small indel", "gene": "SPEN", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 6.8, "altered": 7, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "observed", "frequency": 0.72, "altered": 2, "tested": 277, "note": null}]}, {"label": "RPTN", "kind": "SNV / small indel", "gene": "RPTN", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 6.8, "altered": 7, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "HRNR", "kind": "SNV / small indel", "gene": "HRNR", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 6.8, "altered": 7, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DSP", "kind": "SNV / small indel", "gene": "DSP", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 6.8, "altered": 7, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ATP7B", "kind": "SNV / small indel", "gene": "ATP7B", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 6.8, "altered": 7, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "VWF", "kind": "SNV / small indel", "gene": "VWF", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 5.83, "altered": 6, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TULP4", "kind": "SNV / small indel", "gene": "TULP4", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 5.83, "altered": 6, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SORL1", "kind": "SNV / small indel", "gene": "SORL1", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 5.83, "altered": 6, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PRAMEF12", "kind": "SNV / small indel", "gene": "PRAMEF12", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 5.83, "altered": 6, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PKHD1", "kind": "SNV / small indel", "gene": "PKHD1", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 5.83, "altered": 6, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "LLGL2", "kind": "SNV / small indel", "gene": "LLGL2", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 5.83, "altered": 6, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "LAMA2", "kind": "SNV / small indel", "gene": "LAMA2", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 5.83, "altered": 6, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "IGSF10", "kind": "SNV / small indel", "gene": "IGSF10", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 5.83, "altered": 6, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "HERC2", "kind": "SNV / small indel", "gene": "HERC2", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 5.83, "altered": 6, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CR1", "kind": "SNV / small indel", "gene": "CR1", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 5.83, "altered": 6, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "COL7A1", "kind": "SNV / small indel", "gene": "COL7A1", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 5.83, "altered": 6, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "COL18A1", "kind": "SNV / small indel", "gene": "COL18A1", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 5.83, "altered": 6, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TNNI3K", "kind": "SNV / small indel", "gene": "TNNI3K", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TNKS1BP1", "kind": "SNV / small indel", "gene": "TNKS1BP1", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TCHH", "kind": "SNV / small indel", "gene": "TCHH", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SYNJ2", "kind": "SNV / small indel", "gene": "SYNJ2", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SPEG", "kind": "SNV / small indel", "gene": "SPEG", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SDK1", "kind": "SNV / small indel", "gene": "SDK1", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "RRBP1", "kind": "SNV / small indel", "gene": "RRBP1", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "RELN", "kind": "SNV / small indel", "gene": "RELN", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PRKDC", "kind": "SNV / small indel", "gene": "PRKDC", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PREX2", "kind": "SNV / small indel", "gene": "PREX2", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "observed", "frequency": 0.91, "altered": 2, "tested": 220, "note": null}]}, {"label": "PRB2", "kind": "SNV / small indel", "gene": "PRB2", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PKD1L1", "kind": "SNV / small indel", "gene": "PKD1L1", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PDZD2", "kind": "SNV / small indel", "gene": "PDZD2", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PCDHGA5", "kind": "SNV / small indel", "gene": "PCDHGA5", "cells": [{"cohort": "es_dfarber_broad_2014", "status": "observed", "frequency": 4.85, "altered": 5, "tested": 103, "note": null}, {"cohort": "es_iocurie_2014", "status": "observed", "frequency": 0.89, "altered": 1, "tested": 112, "note": null}, {"cohort": "es_dsrct_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}]}