{"disease": {"name": "Osteosarcoma", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "os"}, "updated_at": "2026-09-18", "genome_builds": ["hg38"], "cohort_count": 1, "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": "TP53", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 31, "tested": 137, "frequency": 22.63, "cohort_count": 1, "frequency_range": {"min": 22.63, "max": 22.63}, "major_variants": ["R282W (n=3)", "X187_splice (n=2)", "M133K (n=2)", "G266R (n=2)", "C135W (n=2)"], "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 31/137 patients (22.63%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 31, "tested": 137, "frequency": 22.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 75.43, "width": 1.0, "reference": 75.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 31, "tested": 137, "frequency": 22.63, "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": "RB1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 8, "tested": 137, "frequency": 5.84, "cohort_count": 1, "frequency_range": {"min": 5.84, "max": 5.84}, "major_variants": ["L64Ffs*46 (n=1)", "A74Efs*4 (n=1)", "Y749* (n=1)", "L719del (n=1)", "K574Ifs*11 (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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 8/137 patients (5.84%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 8, "tested": 137, "frequency": 5.84, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.47, "width": 1.0, "reference": 19.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 137, "frequency": 5.84, "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": "MYC", "alteration_types": ["amplification"], "altered": 0, "tested": 137, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 0/137 patients (0.0%).", "Largest alteration is amplification: 29/81 (35.8%) in the reference cohort's copy-number profile.", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 29, "tested": 81, "frequency": 35.8, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "CDK4", "alteration_types": ["amplification"], "altered": 0, "tested": 137, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 0/137 patients (0.0%).", "Largest alteration is amplification: 3/81 (3.7%) in the reference cohort's copy-number profile.", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.33, "width": 1.0, "reference": 12.33, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 3, "tested": 81, "frequency": 3.7, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "MDM2", "alteration_types": ["amplification"], "altered": 0, "tested": 137, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 0/137 patients (0.0%).", "Largest alteration is amplification: 2/81 (2.47%) in the reference cohort's copy-number profile.", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.23, "width": 1.0, "reference": 8.23, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 2, "tested": 81, "frequency": 2.47, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "VEGFA", "alteration_types": ["amplification"], "altered": 0, "tested": 137, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 0/137 patients (0.0%).", "Largest alteration is amplification: 15/81 (18.52%) in the reference cohort's copy-number profile.", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 61.73, "width": 1.0, "reference": 61.73, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 15, "tested": 81, "frequency": 18.52, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "KDR", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["G1284A (n=1)", "R1066H (n=1)", "D1171N (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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Largest alteration is amplification: 9/81 (11.11%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 37.03, "width": 1.0, "reference": 37.03, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 9, "tested": 81, "frequency": 11.11, "is_mutation": false}, "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": "ERBB2", "alteration_types": [], "altered": 0, "tested": 137, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 0/137 patients (0.0%).", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 137, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "IGF1R", "alteration_types": ["SNV / small indel", "amplification"], "altered": 1, "tested": 137, "frequency": 0.73, "cohort_count": 1, "frequency_range": {"min": 0.73, "max": 0.73}, "major_variants": ["R406H (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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 1/137 patients (0.73%).", "Largest alteration is amplification: 14/81 (17.28%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 1, "tested": 137, "frequency": 0.73, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 57.6, "width": 1.0, "reference": 57.6, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 14, "tested": 81, "frequency": 17.28, "is_mutation": false}, "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": "CD276", "alteration_types": ["amplification"], "altered": 0, "tested": 137, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 0/137 patients (0.0%).", "Largest alteration is amplification: 1/81 (1.23%) in the reference cohort's copy-number profile.", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.1, "width": 1.0, "reference": 4.1, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 1, "tested": 81, "frequency": 1.23, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "PTHLH", "alteration_types": [], "altered": 0, "tested": 137, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 0/137 patients (0.0%).", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 137, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "CDK6", "alteration_types": ["amplification"], "altered": 0, "tested": 137, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 0/137 patients (0.0%).", "Largest alteration is amplification: 1/81 (1.23%) in the reference cohort's copy-number profile.", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.1, "width": 1.0, "reference": 4.1, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 1, "tested": 81, "frequency": 1.23, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "ATRX", "alteration_types": ["SNV / small indel"], "altered": 11, "tested": 137, "frequency": 8.03, "cohort_count": 1, "frequency_range": {"min": 8.03, "max": 8.03}, "major_variants": ["R781* (n=1)", "V277D (n=1)", "E723Dfs*9 (n=1)", "H236Ifs*21 (n=1)", "P36A (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 11/137 patients (8.03%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 11, "tested": 137, "frequency": 8.03, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 26.77, "width": 1.0, "reference": 26.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 11, "tested": 137, "frequency": 8.03, "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": "ZFHX3", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 137, "frequency": 2.92, "cohort_count": 1, "frequency_range": {"min": 2.92, "max": 2.92}, "major_variants": ["D2967N (n=1)", "G1319V (n=1)", "Y1960* (n=1)", "V352L (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 4/137 patients (2.92%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 4, "tested": 137, "frequency": 2.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.73, "width": 1.0, "reference": 9.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 137, "frequency": 2.92, "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": "LAMA2", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 137, "frequency": 2.92, "cohort_count": 1, "frequency_range": {"min": 2.92, "max": 2.92}, "major_variants": ["A912V (n=1)", "K1932E (n=1)", "K2874N (n=1)", "N1781S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 4/137 patients (2.92%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 4, "tested": 137, "frequency": 2.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.73, "width": 1.0, "reference": 9.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 137, "frequency": 2.92, "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": "HECTD4", "alteration_types": ["SNV / small indel", "amplification"], "altered": 4, "tested": 137, "frequency": 2.92, "cohort_count": 1, "frequency_range": {"min": 2.92, "max": 2.92}, "major_variants": ["F1979Y (n=1)", "A1775P (n=1)", "L959S (n=1)", "Q1735H (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 4/137 patients (2.92%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 4, "tested": 137, "frequency": 2.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.73, "width": 1.0, "reference": 9.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 137, "frequency": 2.92, "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": "GRM5", "alteration_types": ["SNV / small indel", "amplification"], "altered": 4, "tested": 137, "frequency": 2.92, "cohort_count": 1, "frequency_range": {"min": 2.92, "max": 2.92}, "major_variants": ["P269T (n=1)", "L162P (n=1)", "K56T (n=1)", "S504C (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 4/137 patients (2.92%).", "Largest alteration is amplification: 3/81 (3.7%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 4, "tested": 137, "frequency": 2.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.33, "width": 1.0, "reference": 12.33, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 3, "tested": 81, "frequency": 3.7, "is_mutation": false}, "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": "DNAI4", "alteration_types": ["SNV / small indel", "amplification"], "altered": 4, "tested": 137, "frequency": 2.92, "cohort_count": 1, "frequency_range": {"min": 2.92, "max": 2.92}, "major_variants": ["D672G (n=1)", "E198D (n=1)", "M1? (n=1)", "A444E (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 4/137 patients (2.92%).", "Largest alteration is amplification: 9/81 (11.11%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 4, "tested": 137, "frequency": 2.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 37.03, "width": 1.0, "reference": 37.03, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 9, "tested": 81, "frequency": 11.11, "is_mutation": false}, "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": "CMYA5", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 137, "frequency": 2.92, "cohort_count": 1, "frequency_range": {"min": 2.92, "max": 2.92}, "major_variants": ["G1998V (n=1)", "E3834V (n=1)", "C3516R (n=1)", "L1703M (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 4/137 patients (2.92%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 4, "tested": 137, "frequency": 2.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.73, "width": 1.0, "reference": 9.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 137, "frequency": 2.92, "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": "ALMS1", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 137, "frequency": 2.92, "cohort_count": 1, "frequency_range": {"min": 2.92, "max": 2.92}, "major_variants": ["N3329K (n=1)", "Q2320P (n=1)", "R3678* (n=1)", "I3381S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 4/137 patients (2.92%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 4, "tested": 137, "frequency": 2.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.73, "width": 1.0, "reference": 9.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 137, "frequency": 2.92, "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": "VWF", 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null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.3, "width": 1.0, "reference": 7.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 137, "frequency": 2.19, "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": "VPS13A", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["G1885R (n=1)", "E1320Q (n=1)", "R1297L (n=1)", "W1538C (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not 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"counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.3, "width": 1.0, "reference": 7.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 137, "frequency": 2.19, "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": "UNC79", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["L979Q (n=1)", "P336R (n=1)", "A2427T (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Largest alteration is amplification: 2/81 (2.47%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.23, "width": 1.0, "reference": 8.23, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 2, "tested": 81, "frequency": 2.47, "is_mutation": false}, "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": "TMEM132D", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["V299L (n=1)", "D902E (n=1)", "L906F (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.3, "width": 1.0, "reference": 7.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 137, "frequency": 2.19, "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": "SIGLEC10", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["E660D (n=1)", "P631Q (n=1)", "D240N (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], 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2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["S551R (n=1)", "Q1931* (n=1)", "D2400N (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.3, "width": 1.0, "reference": 7.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 137, "frequency": 2.19, "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": "PXDN", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["Q308* (n=1)", "A216V (n=1)", "P1295H (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.3, "width": 1.0, "reference": 7.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 137, "frequency": 2.19, "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": "PTPRH", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["E548* (n=1)", "G177R (n=1)", "S710P (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.3, "width": 1.0, "reference": 7.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 137, "frequency": 2.19, "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": "PTEN", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["H64P (n=1)", "T131Mfs*44 (n=1)", "C250Wfs*2 (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Largest alteration is deep deletion: 2/81 (2.47%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.23, "width": 1.0, "reference": 8.23, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 2, "tested": 81, "frequency": 2.47, "is_mutation": false}, "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": "PKD1", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["R3269Q (n=1)", "A2918T (n=1)", "H2656Q (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 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"major_variants": ["P1879Q (n=1)", "I1058V (n=1)", "X1239_splice (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.3, "width": 1.0, "reference": 7.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 137, "frequency": 2.19, "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": "MYH7", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["V1819M (n=1)", "Q1654H (n=1)", "R858C (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Largest alteration is amplification: 9/81 (11.11%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 37.03, "width": 1.0, "reference": 37.03, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 9, "tested": 81, "frequency": 11.11, "is_mutation": false}, "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": "MICAL3", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["K1643M (n=1)", "R226K (n=1)", "S1792I (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Largest alteration is amplification: 5/81 (6.17%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.57, "width": 1.0, "reference": 20.57, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 5, "tested": 81, "frequency": 6.17, "is_mutation": false}, "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": "MAPRE3", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["C182Lfs*16 (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Largest alteration is amplification: 2/81 (2.47%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.23, "width": 1.0, "reference": 8.23, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 2, "tested": 81, "frequency": 2.47, "is_mutation": false}, "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": "LRRK2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["N1391H (n=1)", "S1593T (n=1)", "L139S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Largest alteration is amplification: 3/81 (3.7%) in the reference 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"cohorts"}, {"gene": "LAMA1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["T40S (n=2)", "S650N (n=1)", "K1738R (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Largest alteration is amplification: 3/81 (3.7%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.33, "width": 1.0, "reference": 12.33, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 3, "tested": 81, "frequency": 3.7, "is_mutation": false}, "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": "HELZ2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["P75S (n=1)", "R564W (n=1)", "A2344E (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.3, "width": 1.0, "reference": 7.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 137, "frequency": 2.19, "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": "FCGBP", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["L2160P (n=1)", "C2693F (n=1)", "D1769N (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Largest alteration is amplification: 3/81 (3.7%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.33, "width": 1.0, "reference": 12.33, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 3, "tested": 81, "frequency": 3.7, "is_mutation": false}, "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": "FAT1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["F4371S (n=1)", "G1895A (n=1)", "D2622N (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured 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"frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "DCLK2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["R153C (n=1)", "K243Q (n=1)", "S484* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Largest alteration is amplification: 4/81 (4.94%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.47, "width": 1.0, "reference": 16.47, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 4, "tested": 81, "frequency": 4.94, "is_mutation": false}, "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": "CNTNAP2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["K1326N (n=1)", "K1059M (n=1)", "K750N (n=1)", "Q751K (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.3, "width": 1.0, "reference": 7.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 137, "frequency": 2.19, "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": "CARMIL1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["A865S (n=1)", "D909Y (n=1)", "T434R (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Largest alteration is amplification: 2/81 (2.47%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.23, "width": 1.0, "reference": 8.23, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 2, "tested": 81, "frequency": 2.47, "is_mutation": false}, "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": "CACNA1B", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 2.19, "max": 2.19}, "major_variants": ["Q1814* (n=1)", "X1650_splice (n=1)", "S1129P (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 3/137 patients (2.19%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.3, "width": 1.0, "reference": 7.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 137, "frequency": 2.19, "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": "ZMAT1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 1.46, "max": 1.46}, "major_variants": ["M342I (n=1)", "E93K (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms 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"https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 2/137 patients (1.46%).", "Largest alteration is amplification: 5/81 (6.17%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.57, "width": 1.0, "reference": 20.57, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 5, "tested": 81, "frequency": 6.17, "is_mutation": false}, "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": "ZDHHC5", "alteration_types": ["SNV / small indel", "amplification"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 1.46, "max": 1.46}, "major_variants": ["L154H (n=1)", "S484L (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 2/137 patients (1.46%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.87, "width": 1.0, "reference": 4.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 137, "frequency": 1.46, "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": "XPO4", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 1.46, "max": 1.46}, "major_variants": ["T1124S (n=1)", "P444S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 2/137 patients (1.46%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.87, "width": 1.0, "reference": 4.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 137, "frequency": 1.46, "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": "WBP2NL", "alteration_types": ["SNV / small indel", "amplification"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 1.46, "max": 1.46}, "major_variants": ["P179H (n=1)", "Y224* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "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; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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: Osteosarcoma (TARGET GDC, 2025), 2/137 patients (1.46%).", "Largest alteration is amplification: 2/81 (2.47%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "os_target_gdc", "cohort_name": "Osteosarcoma (TARGET GDC, 2025)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/159", "coverage_note": null, "source_id": "os_target_gdc", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.23, "width": 1.0, "reference": 8.23, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 2, "tested": 81, "frequency": 2.47, "is_mutation": false}, "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"}], "variants": [], "genomic_events": [{"event_type": "copy_number", "gene": "MYC", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MYC amplification", "genomic_coordinate": null, "observed": 29, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 35.8, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "VEGFA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "VEGFA amplification", "genomic_coordinate": null, "observed": 15, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 18.52, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "IGF1R", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "IGF1R amplification", "genomic_coordinate": null, "observed": 14, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 17.28, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "KDR", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "KDR amplification", "genomic_coordinate": null, "observed": 9, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 11.11, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "DNAI4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "DNAI4 amplification", "genomic_coordinate": null, "observed": 9, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 11.11, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MYH7", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MYH7 amplification", "genomic_coordinate": null, "observed": 9, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 11.11, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TP53", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "TP53 deep deletion", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.17, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MICAL3", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MICAL3 amplification", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.17, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ZIC2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "ZIC2 amplification", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.17, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "DCLK2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "DCLK2 amplification", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.94, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "RB1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "RB1 deep deletion", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.7, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CDK4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CDK4 amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.7, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "GRM5", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "GRM5 amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.7, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "LRRK2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "LRRK2 amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.7, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "LAMA1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "LAMA1 amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.7, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FCGBP", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "FCGBP amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.7, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MDM2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MDM2 amplification", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.47, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "UNC79", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "UNC79 amplification", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.47, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PTEN", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "PTEN deep deletion", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.47, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MAPRE3", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MAPRE3 amplification", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.47, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FAT1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "FAT1 amplification", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.47, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CARMIL1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CARMIL1 amplification", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.47, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "WBP2NL", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "WBP2NL amplification", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 81, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.47, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["os_target_gdc"], "source_ids": ["os_target_gdc_cna"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 1, "total_cohorts": 1}, {"modality": "Copy number (discrete)", "available_cohorts": 1, "total_cohorts": 1}, {"modality": "Structural variant (present, not read)", "available_cohorts": 0, "total_cohorts": 1}], "chromosome_summary": [], "cohorts": [{"name": "Osteosarcoma (TARGET GDC, 2025)", "source": "cBioPortal", "accession": "os_target_gdc", "patients": {"value": 137, "status": "observed", "unit": "patients"}, "samples": {"value": 143, "status": "observed", "unit": "samples"}, "disease_subtype": "Osteosarcoma (TARGET GDC, 2025)", "assay_type": "exome or genome", "sequencing_method": "WES (143)", "genome_build": "hg38", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion"], "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": "os_target_gdc", "is_demo": false, "assay_coverage": {"patients_with_calls": 137, "patients_in_roster": 137, "frequencies_computed": true, "samples_sequenced": 143, "samples_in_study": 159, "hypermutated_patients": 0, "median_mutations_per_sample": 15, "reason": null}}], "sources": [{"source_name": "cBioPortal · Osteosarcoma (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=os_target_gdc", "source_record_id": "os_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "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 Osteosarcoma (TARGET GDC, 2025) (137 sequenced patients, exome or genome), the most frequently altered of the 49 genes shown are MYC 35.8% (amplification), TP53 22.63%, VEGFA 18.52% (amplification), IGF1R 17.28% (amplification), KDR 11.11% (amplification). Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 4 are altered in under 2% of this cohort (ERBB2, CD276, PTHLH, CDK6): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "1 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "MYC is amplified in 29 of 81 patients in Osteosarcoma (TARGET GDC, 2025).", "numerator": 29, "denominator": 81, "frequency": 35.8, "cohorts": 0, "evidence_confidence": "moderate", "source": "os_target_gdc", "retrieved_at": "2026-09-18"}, {"finding": "TP53 is mutated in 31 of 137 patients in Osteosarcoma (TARGET GDC, 2025).", "numerator": 31, "denominator": 137, "frequency": 22.63, "cohorts": 1, "evidence_confidence": "moderate", "source": "os_target_gdc", "retrieved_at": "2026-09-18"}, {"finding": "VEGFA is amplified in 15 of 81 patients in Osteosarcoma (TARGET GDC, 2025).", "numerator": 15, "denominator": 81, "frequency": 18.52, "cohorts": 0, "evidence_confidence": "moderate", "source": "os_target_gdc", "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": "os_target_gdc", "region_events": [], "matrix": [{"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 22.63, "altered": 31, "tested": 137, "note": null}]}, {"label": "TP53", "kind": "deep deletion", "gene": "TP53", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 6.17, "altered": 5, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "RB1", "kind": "SNV / small indel", "gene": "RB1", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 5.84, "altered": 8, "tested": 137, "note": null}]}, {"label": "RB1", "kind": "deep deletion", "gene": "RB1", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 3.7, "altered": 3, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "MYC", "kind": "SNV / small indel", "gene": "MYC", "cells": [{"cohort": "os_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}]}, {"label": "MYC", "kind": "amplification", "gene": "MYC", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 35.8, "altered": 29, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CDK4", "kind": "SNV / small indel", "gene": "CDK4", "cells": [{"cohort": "os_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}]}, {"label": "CDK4", "kind": "amplification", "gene": "CDK4", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 3.7, "altered": 3, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "MDM2", "kind": "SNV / small indel", "gene": "MDM2", "cells": [{"cohort": "os_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}]}, {"label": "MDM2", "kind": "amplification", "gene": "MDM2", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.47, "altered": 2, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "VEGFA", "kind": "SNV / small indel", "gene": "VEGFA", "cells": [{"cohort": "os_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}]}, {"label": "VEGFA", "kind": "amplification", "gene": "VEGFA", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 18.52, "altered": 15, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KDR", "kind": "SNV / small indel", "gene": "KDR", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "KDR", "kind": "amplification", "gene": "KDR", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 11.11, "altered": 9, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ERBB2", "kind": "SNV / small indel", "gene": "ERBB2", "cells": [{"cohort": "os_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}]}, {"label": "IGF1R", "kind": "SNV / small indel", "gene": "IGF1R", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 0.73, "altered": 1, "tested": 137, "note": null}]}, {"label": "IGF1R", "kind": "amplification", "gene": "IGF1R", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 17.28, "altered": 14, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CD276", "kind": "SNV / small indel", "gene": "CD276", "cells": [{"cohort": "os_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}]}, {"label": "PTHLH", "kind": "SNV / small indel", "gene": "PTHLH", "cells": [{"cohort": "os_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}]}, {"label": "CDK6", "kind": "SNV / small indel", "gene": "CDK6", "cells": [{"cohort": "os_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}]}, {"label": "ATRX", "kind": "SNV / small indel", "gene": "ATRX", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 8.03, "altered": 11, "tested": 137, "note": null}]}, {"label": "ZFHX3", "kind": "SNV / small indel", "gene": "ZFHX3", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.92, "altered": 4, "tested": 137, "note": null}]}, {"label": "LAMA2", "kind": "SNV / small indel", "gene": "LAMA2", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.92, "altered": 4, "tested": 137, "note": null}]}, {"label": "HECTD4", "kind": "SNV / small indel", "gene": "HECTD4", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.92, "altered": 4, "tested": 137, "note": null}]}, {"label": "GRM5", "kind": "SNV / small indel", "gene": "GRM5", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.92, "altered": 4, "tested": 137, "note": null}]}, {"label": "GRM5", "kind": "amplification", "gene": "GRM5", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 3.7, "altered": 3, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "DNAI4", "kind": "SNV / small indel", "gene": "DNAI4", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.92, "altered": 4, "tested": 137, "note": null}]}, {"label": "DNAI4", "kind": "amplification", "gene": "DNAI4", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 11.11, "altered": 9, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CMYA5", "kind": "SNV / small indel", "gene": "CMYA5", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.92, "altered": 4, "tested": 137, "note": null}]}, {"label": "ALMS1", "kind": "SNV / small indel", "gene": "ALMS1", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.92, "altered": 4, "tested": 137, "note": null}]}, {"label": "VWF", "kind": "SNV / small indel", "gene": "VWF", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "VPS13A", "kind": "SNV / small indel", "gene": "VPS13A", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "UNC79", "kind": "SNV / small indel", "gene": "UNC79", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "UNC79", "kind": "amplification", "gene": "UNC79", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.47, "altered": 2, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TMEM132D", "kind": "SNV / small indel", "gene": "TMEM132D", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "SIGLEC10", "kind": "SNV / small indel", "gene": "SIGLEC10", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "SETD2", "kind": "SNV / small indel", "gene": "SETD2", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "PXDN", "kind": "SNV / small indel", "gene": "PXDN", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "PTPRH", "kind": "SNV / small indel", "gene": "PTPRH", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "PTEN", "kind": "SNV / small indel", "gene": "PTEN", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "PTEN", "kind": "deep deletion", "gene": "PTEN", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.47, "altered": 2, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PKD1", "kind": "SNV / small indel", "gene": "PKD1", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "PCDH15", "kind": "SNV / small indel", "gene": "PCDH15", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "MYH7", "kind": "SNV / small indel", "gene": "MYH7", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "MYH7", "kind": "amplification", "gene": "MYH7", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 11.11, "altered": 9, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "MICAL3", "kind": "SNV / small indel", "gene": "MICAL3", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "MICAL3", "kind": "amplification", "gene": "MICAL3", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 6.17, "altered": 5, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "MAPRE3", "kind": "SNV / small indel", "gene": "MAPRE3", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "MAPRE3", "kind": "amplification", "gene": "MAPRE3", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.47, "altered": 2, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "LRRK2", "kind": "SNV / small indel", "gene": "LRRK2", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "LRRK2", "kind": "amplification", "gene": "LRRK2", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 3.7, "altered": 3, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "LAMA1", "kind": "SNV / small indel", "gene": "LAMA1", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "LAMA1", "kind": "amplification", "gene": "LAMA1", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 3.7, "altered": 3, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "HELZ2", "kind": "SNV / small indel", "gene": "HELZ2", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "FCGBP", "kind": "SNV / small indel", "gene": "FCGBP", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "FCGBP", "kind": "amplification", "gene": "FCGBP", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 3.7, "altered": 3, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "FAT1", "kind": "SNV / small indel", "gene": "FAT1", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "FAT1", "kind": "amplification", "gene": "FAT1", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.47, "altered": 2, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "DGKG", "kind": "SNV / small indel", "gene": "DGKG", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "DCLK2", "kind": "SNV / small indel", "gene": "DCLK2", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "DCLK2", "kind": "amplification", "gene": "DCLK2", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 4.94, "altered": 4, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CNTNAP2", "kind": "SNV / small indel", "gene": "CNTNAP2", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "CARMIL1", "kind": "SNV / small indel", "gene": "CARMIL1", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "CARMIL1", "kind": "amplification", "gene": "CARMIL1", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.47, "altered": 2, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CACNA1B", "kind": "SNV / small indel", "gene": "CACNA1B", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}]}, {"label": "ZMAT1", "kind": "SNV / small indel", "gene": "ZMAT1", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}]}, {"label": "ZIC2", "kind": "SNV / small indel", "gene": "ZIC2", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}]}, {"label": "ZIC2", "kind": "amplification", "gene": "ZIC2", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 6.17, "altered": 5, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ZDHHC5", "kind": "SNV / small indel", "gene": "ZDHHC5", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}]}, {"label": "XPO4", "kind": "SNV / small indel", "gene": "XPO4", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}]}, {"label": "WBP2NL", "kind": "SNV / small indel", "gene": "WBP2NL", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}]}, {"label": "WBP2NL", "kind": "amplification", "gene": "WBP2NL", "cells": [{"cohort": "os_target_gdc", "status": "observed", "frequency": 2.47, "altered": 2, "tested": 81, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}]}