{"disease": {"name": "Glioblastoma", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "difg"}, "updated_at": "2026-09-17", "genome_builds": ["hg19"], "cohort_count": 3, "cohort_count_status": "observed", "cohort_count_unit": "cohorts", "evaluable_patients": null, "evaluable_patients_status": "unknown", "evaluable_patients_unit": "patients", "alteration_types": ["SNV", "small indel", "amplification", "deep deletion"], "genes": [{"gene": "EGFR", "alteration_types": ["SNV / small indel", "amplification"], "altered": 91, "tested": 390, "frequency": 23.33, "cohort_count": 3, "frequency_range": {"min": 3.12, "max": 23.33}, "major_variants": ["A289V (n=16)", "G598V (n=15)", "R222C (n=6)", "A289T (n=6)", "A289D (n=5)"], "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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 91/390 patients (23.33%).", "Without the 6 hypermutated patients: 88/384 (22.92%).", "Largest alteration is amplification: 255/575 (44.35%) in the reference cohort's copy-number profile.", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 91, "tested": 390, "frequency": 23.33, "frequency_excl_hypermutated": 22.92, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 17, "tested": 99, "frequency": 17.17, "frequency_excl_hypermutated": 17.35, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 1, "tested": 32, "frequency": 3.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "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": 255, "tested": 575, "frequency": 44.35, "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": "PDGFRA", "alteration_types": ["SNV / small indel", "amplification"], "altered": 16, "tested": 390, "frequency": 4.1, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 4.1}, "major_variants": ["E229K (n=2)", "W349C (n=1)", "P1021L (n=1)", "E372K (n=1)", "L655F (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 16/390 patients (4.1%).", "Without the 6 hypermutated patients: 14/384 (3.65%).", "Largest alteration is amplification: 75/575 (13.04%) in the reference cohort's copy-number profile.", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 16, "tested": 390, "frequency": 4.1, "frequency_excl_hypermutated": 3.65, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 3, "tested": 99, "frequency": 3.03, "frequency_excl_hypermutated": 3.06, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 43.47, "width": 1.0, "reference": 43.47, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 75, "tested": 575, "frequency": 13.04, "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": "PTEN", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 128, "tested": 390, "frequency": 32.82, "cohort_count": 3, "frequency_range": {"min": 15.62, "max": 32.82}, "major_variants": ["R233* (n=5)", "T319* (n=5)", "G132D (n=4)", "R335* (n=3)", "R173H (n=3)"], "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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 128/390 patients (32.82%).", "Without the 6 hypermutated patients: 125/384 (32.55%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 128, "tested": 390, "frequency": 32.82, "frequency_excl_hypermutated": 32.55, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 27, "tested": 99, "frequency": 27.27, "frequency_excl_hypermutated": 26.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 5, "tested": 32, "frequency": 15.62, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 52.07, "width": 47.93, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 128, "tested": 390, "frequency": 32.82, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TP53", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 120, "tested": 390, "frequency": 30.77, "cohort_count": 3, "frequency_range": {"min": 9.38, "max": 32.32}, "major_variants": ["R248Q (n=8)", "R175H (n=8)", "R282W (n=5)", "Y220C (n=5)", "R248W (n=5)"], "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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 120/390 patients (30.77%).", "Without the 6 hypermutated patients: 116/384 (30.21%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 120, "tested": 390, "frequency": 30.77, "frequency_excl_hypermutated": 30.21, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 32, "tested": 99, "frequency": 32.32, "frequency_excl_hypermutated": 31.63, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 3, "tested": 32, "frequency": 9.38, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.27, "width": 68.73, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 120, "tested": 390, "frequency": 30.77, "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": "NF1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 46, "tested": 390, "frequency": 11.79, "cohort_count": 3, "frequency_range": {"min": 9.38, "max": 15.15}, "major_variants": ["K1661Gfs*36 (n=3)", "R192* (n=2)", "X2657_splice (n=2)", "X1445_splice (n=1)", "L844F (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 46/390 patients (11.79%).", "Without the 6 hypermutated patients: 42/384 (10.94%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 46, "tested": 390, "frequency": 11.79, "frequency_excl_hypermutated": 10.94, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 15, "tested": 99, "frequency": 15.15, "frequency_excl_hypermutated": 15.31, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 3, "tested": 32, "frequency": 9.38, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.27, "width": 19.23, "reference": 39.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 46, "tested": 390, "frequency": 11.79, "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": "CDK4", "alteration_types": ["amplification"], "altered": 0, "tested": 390, "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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 0/390 patients (0.0%).", "Without the 6 hypermutated patients: 0/384 (0.0%).", "Largest alteration is amplification: 82/575 (14.26%) in the reference cohort's copy-number profile.", "Observed in 0 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 0, "tested": 390, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 0, "tested": 99, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 47.53, "width": 1.0, "reference": 47.53, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 82, "tested": 575, "frequency": 14.26, "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": ["SNV / small indel", "amplification"], "altered": 3, "tested": 390, "frequency": 0.77, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 2.02}, "major_variants": ["D86Y (n=1)", "S127F (n=1)", "I303M (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 3/390 patients (0.77%).", "Without the 6 hypermutated patients: 1/384 (0.26%).", "Largest alteration is amplification: 47/575 (8.17%) in the reference cohort's copy-number profile.", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 3, "tested": 390, "frequency": 0.77, "frequency_excl_hypermutated": 0.26, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 2, "tested": 99, "frequency": 2.02, "frequency_excl_hypermutated": 2.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 27.23, "width": 1.0, "reference": 27.23, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 47, "tested": 575, "frequency": 8.17, "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": "CDKN2A", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 4, "tested": 390, "frequency": 1.03, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 1.03}, "major_variants": ["W110* (n=2)", "L78Hfs*41 (n=1)", "G111D (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 4/390 patients (1.03%).", "Without the 6 hypermutated patients: 3/384 (0.78%).", "Largest alteration is deep deletion: 322/575 (56.0%) in the reference cohort's copy-number profile.", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 4, "tested": 390, "frequency": 1.03, "frequency_excl_hypermutated": 0.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 1, "tested": 99, "frequency": 1.01, "frequency_excl_hypermutated": 1.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "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": "deep deletion", "altered": 322, "tested": 575, "frequency": 56.0, "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": "RB1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 38, "tested": 390, "frequency": 9.74, "cohort_count": 3, "frequency_range": {"min": 3.12, "max": 10.1}, "major_variants": ["R445* (n=3)", "X830_splice (n=2)", "X654_splice (n=2)", "S318Nfs*13 (n=2)", "Q702* (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 38/390 patients (9.74%).", "Without the 6 hypermutated patients: 34/384 (8.85%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 38, "tested": 390, "frequency": 9.74, "frequency_excl_hypermutated": 8.85, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 10, "tested": 99, "frequency": 10.1, "frequency_excl_hypermutated": 9.18, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 1, "tested": 32, "frequency": 3.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.4, "width": 23.27, "reference": 32.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 38, "tested": 390, "frequency": 9.74, "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": "PIK3CA", "alteration_types": ["SNV / small indel", "amplification"], "altered": 36, "tested": 390, "frequency": 9.23, "cohort_count": 3, "frequency_range": {"min": 9.23, "max": 11.11}, "major_variants": ["M1043V (n=3)", "E545K (n=3)", "R38H (n=2)", "E81K (n=2)", "R88Q (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 36/390 patients (9.23%).", "Without the 6 hypermutated patients: 34/384 (8.85%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 36, "tested": 390, "frequency": 9.23, "frequency_excl_hypermutated": 8.85, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 11, "tested": 99, "frequency": 11.11, "frequency_excl_hypermutated": 11.22, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 3, "tested": 32, "frequency": 9.38, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.77, "width": 6.26, "reference": 30.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 36, "tested": 390, "frequency": 9.23, "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": "TERT", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 5, "tested": 390, "frequency": 1.28, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 1.28}, "major_variants": ["G641* (n=1)", "P219L (n=1)", "N571S (n=1)", "R889Q (n=1)", "R951Q (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 5/390 patients (1.28%).", "Without the 6 hypermutated patients: 3/384 (0.78%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 5, "tested": 390, "frequency": 1.28, "frequency_excl_hypermutated": 0.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 1, "tested": 99, "frequency": 1.01, "frequency_excl_hypermutated": 1.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 4.27, "reference": 4.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 390, "frequency": 1.28, "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": "MGMT", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 3, "tested": 390, "frequency": 0.77, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.77}, "major_variants": ["A82V (n=1)", "V186M (n=1)", "A226V (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 3/390 patients (0.77%).", "Without the 6 hypermutated patients: 1/384 (0.26%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 3, "tested": 390, "frequency": 0.77, "frequency_excl_hypermutated": 0.26, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 0, "tested": 99, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 2.57, "reference": 2.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 390, "frequency": 0.77, "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": "PIK3R1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 39, "tested": 390, "frequency": 10.0, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 10.0}, "major_variants": ["G376R (n=6)", "X582_splice (n=2)", "K379N (n=2)", "X583_splice (n=2)", "R574Kfs*27 (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 39/390 patients (10.0%).", "Without the 6 hypermutated patients: 37/384 (9.64%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 39, "tested": 390, "frequency": 10.0, "frequency_excl_hypermutated": 9.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 7, "tested": 99, "frequency": 7.07, "frequency_excl_hypermutated": 7.14, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 33.33, "reference": 33.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 39, "tested": 390, "frequency": 10.0, "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": "ATRX", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 36, "tested": 390, "frequency": 9.23, "cohort_count": 3, "frequency_range": {"min": 3.12, "max": 10.1}, "major_variants": ["Q177* (n=2)", "R1803H (n=2)", "W2001Cfs*14 (n=1)", "E886Lfs*18 (n=1)", "L1827Cfs*9 (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 36/390 patients (9.23%).", "Without the 6 hypermutated patients: 31/384 (8.07%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 36, "tested": 390, "frequency": 9.23, "frequency_excl_hypermutated": 8.07, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 10, "tested": 99, "frequency": 10.1, "frequency_excl_hypermutated": 9.18, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 1, "tested": 32, "frequency": 3.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.4, "width": 23.27, "reference": 30.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 36, "tested": 390, "frequency": 9.23, "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": "PKHD1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 26, "tested": 390, "frequency": 6.67, "cohort_count": 3, "frequency_range": {"min": 5.05, "max": 6.67}, "major_variants": ["L1989F (n=2)", "R1624W (n=1)", "F2516S (n=1)", "G3676E (n=1)", "T849N (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 26/390 patients (6.67%).", "Without the 6 hypermutated patients: 24/384 (6.25%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 26, "tested": 390, "frequency": 6.67, "frequency_excl_hypermutated": 6.25, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 5, "tested": 99, "frequency": 5.05, "frequency_excl_hypermutated": 5.1, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 2, "tested": 32, "frequency": 6.25, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.83, "width": 5.4, "reference": 22.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 26, "tested": 390, "frequency": 6.67, "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": "COL6A3", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 25, "tested": 390, "frequency": 6.41, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 6.41}, "major_variants": ["S2492L (n=2)", "L1723F (n=1)", "V987M (n=1)", "A1094T (n=1)", "G542S (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 25/390 patients (6.41%).", "Without the 6 hypermutated patients: 23/384 (5.99%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 25, "tested": 390, "frequency": 6.41, "frequency_excl_hypermutated": 5.99, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 1, "tested": 99, "frequency": 1.01, "frequency_excl_hypermutated": 1.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 21.37, "reference": 21.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 25, "tested": 390, "frequency": 6.41, "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": "IDH1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 24, "tested": 390, "frequency": 6.15, "cohort_count": 3, "frequency_range": {"min": 6.15, "max": 12.5}, "major_variants": ["R132H (n=22)", "R132G (n=2)", "R132C (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 24/390 patients (6.15%).", "Without the 6 hypermutated patients: 24/384 (6.25%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 24, "tested": 390, "frequency": 6.15, "frequency_excl_hypermutated": 6.25, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 7, "tested": 99, "frequency": 7.07, "frequency_excl_hypermutated": 7.14, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 4, "tested": 32, "frequency": 12.5, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.5, "width": 21.17, "reference": 20.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 24, "tested": 390, "frequency": 6.15, "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": "HRNR", "alteration_types": ["SNV / small indel", "amplification"], "altered": 21, "tested": 390, "frequency": 5.38, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 5.38}, "major_variants": ["S245T (n=2)", "S2035G (n=1)", "R571H (n=1)", "R1053* (n=1)", "S316L (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 21/390 patients (5.38%).", "Without the 6 hypermutated patients: 19/384 (4.95%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 21, "tested": 390, "frequency": 5.38, "frequency_excl_hypermutated": 4.95, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 3, "tested": 99, "frequency": 3.03, "frequency_excl_hypermutated": 3.06, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 17.93, "reference": 17.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 390, "frequency": 5.38, "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": "FAT2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 21, "tested": 390, "frequency": 5.38, "cohort_count": 3, "frequency_range": {"min": 1.01, "max": 6.25}, "major_variants": ["T3563M (n=2)", "R2117Q (n=1)", "P2269T (n=1)", "V3619M (n=1)", "Y2911* (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 21/390 patients (5.38%).", "Without the 6 hypermutated patients: 19/384 (4.95%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 21, "tested": 390, "frequency": 5.38, "frequency_excl_hypermutated": 4.95, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 1, "tested": 99, "frequency": 1.01, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 2, "tested": 32, "frequency": 6.25, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.37, "width": 17.46, "reference": 17.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 390, "frequency": 5.38, "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": "RELN", "alteration_types": ["SNV / small indel", "amplification"], "altered": 20, "tested": 390, "frequency": 5.13, "cohort_count": 3, "frequency_range": {"min": 1.01, "max": 5.13}, "major_variants": ["D365N (n=1)", "N1761S (n=1)", "Q176* (n=1)", "R3018* (n=1)", "A2036V (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 20/390 patients (5.13%).", "Without the 6 hypermutated patients: 16/384 (4.17%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 20, "tested": 390, "frequency": 5.13, "frequency_excl_hypermutated": 4.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 1, "tested": 99, "frequency": 1.01, "frequency_excl_hypermutated": 1.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 1, "tested": 32, "frequency": 3.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.37, "width": 13.73, "reference": 17.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 390, "frequency": 5.13, "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": "LAMA1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 20, "tested": 390, "frequency": 5.13, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 5.13}, "major_variants": ["X256_splice (n=1)", "R1180H (n=1)", "S1051L (n=1)", "F2643L (n=1)", "E844K (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, 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"source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 19/390 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"https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 18/390 patients (4.62%).", "Without the 6 hypermutated patients: 16/384 (4.17%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 18, "tested": 390, "frequency": 4.62, "frequency_excl_hypermutated": 4.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 0, "tested": 99, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 15.4, "reference": 15.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 390, "frequency": 4.62, "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": "STAG2", "alteration_types": ["SNV / small indel", "deep deletion"], 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"processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 18/390 patients (4.62%).", "Without the 6 hypermutated patients: 17/384 (4.43%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 18, "tested": 390, "frequency": 4.62, "frequency_excl_hypermutated": 4.43, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 1, "tested": 99, "frequency": 1.01, "frequency_excl_hypermutated": 1.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 15.4, "reference": 15.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 390, "frequency": 4.62, "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": "SDK1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 18, "tested": 390, "frequency": 4.62, "cohort_count": 3, "frequency_range": {"min": 1.01, "max": 4.62}, "major_variants": ["S1074P (n=1)", "P972S (n=1)", "V1229I (n=1)", "S1208F (n=1)", "G929E (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 18/390 patients (4.62%).", "Without the 6 hypermutated patients: 16/384 (4.17%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 18, "tested": 390, "frequency": 4.62, "frequency_excl_hypermutated": 4.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 1, "tested": 99, "frequency": 1.01, "frequency_excl_hypermutated": 1.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 1, "tested": 32, "frequency": 3.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.37, "width": 12.03, "reference": 15.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 390, "frequency": 4.62, "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": "KEL", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 18, "tested": 390, "frequency": 4.62, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 4.62}, "major_variants": ["X75_splice (n=2)", "R130W (n=2)", "V411M (n=2)", "V336M (n=1)", "S187Y (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as 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(TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 18/390 patients (4.62%).", "Without the 6 hypermutated patients: 17/384 (4.43%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 18, "tested": 390, "frequency": 4.62, "frequency_excl_hypermutated": 4.43, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 2, "tested": 99, "frequency": 2.02, "frequency_excl_hypermutated": 2.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 15.4, "reference": 15.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 390, "frequency": 4.62, "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": 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"source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 18/390 patients (4.62%).", "Without the 6 hypermutated patients: 14/384 (3.65%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 18, "tested": 390, "frequency": 4.62, "frequency_excl_hypermutated": 3.65, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 0, "tested": 99, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 15.4, "reference": 15.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 390, "frequency": 4.62, "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": "MXRA5", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 17, "tested": 390, "frequency": 4.36, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 5.05}, "major_variants": ["R2119H (n=1)", "I1326T (n=1)", "V2022I (n=1)", "R1280K (n=1)", "L602V (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 17/390 patients (4.36%).", "Without the 6 hypermutated patients: 14/384 (3.65%).", "Observed in 2 of 3 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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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 17/390 patients (4.36%).", "Without the 6 hypermutated patients: 14/384 (3.65%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 17, "tested": 390, "frequency": 4.36, "frequency_excl_hypermutated": 3.65, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 1, "tested": 99, "frequency": 1.01, "frequency_excl_hypermutated": 1.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": 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"patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 16/390 patients (4.1%).", "Without the 6 hypermutated patients: 13/384 (3.39%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 16, "tested": 390, "frequency": 4.1, "frequency_excl_hypermutated": 3.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 2, "tested": 99, "frequency": 2.02, "frequency_excl_hypermutated": 2.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 13.67, "reference": 13.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 390, "frequency": 4.1, "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": "SCN9A", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 16, "tested": 390, "frequency": 4.1, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 4.1}, "major_variants": ["D1828Y (n=1)", "N1353Y (n=1)", "R1368H (n=1)", "R1903P (n=1)", "T1633M (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 · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal 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"source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 16/390 patients (4.1%).", "Without the 6 hypermutated patients: 14/384 (3.65%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 16, "tested": 390, "frequency": 4.1, "frequency_excl_hypermutated": 3.65, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 2, "tested": 99, "frequency": 2.02, "frequency_excl_hypermutated": 2.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 13.67, "reference": 13.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 390, "frequency": 4.1, "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": "KIF2B", "alteration_types": ["SNV / small indel", "amplification"], 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"processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 16/390 patients (4.1%).", "Without the 6 hypermutated patients: 14/384 (3.65%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 16, "tested": 390, "frequency": 4.1, "frequency_excl_hypermutated": 3.65, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 1, "tested": 99, "frequency": 1.01, "frequency_excl_hypermutated": 1.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 1, "tested": 32, "frequency": 3.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.37, "width": 10.3, "reference": 13.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 390, 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"licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 16/390 patients (4.1%).", "Without the 6 hypermutated patients: 14/384 (3.65%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": 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"coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.4, "width": 6.43, "reference": 13.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 390, "frequency": 4.1, "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": "FBN3", "alteration_types": ["SNV / small indel", "amplification"], "altered": 16, "tested": 390, "frequency": 4.1, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 4.1}, "major_variants": ["V886I (n=2)", "A1730T (n=1)", "R2108C (n=1)", "P2396Q (n=1)", "V697M (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the 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false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 16/390 patients (4.1%).", "Without the 6 hypermutated patients: 15/384 (3.91%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 16, "tested": 390, "frequency": 4.1, "frequency_excl_hypermutated": 3.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 4, "tested": 99, "frequency": 4.04, "frequency_excl_hypermutated": 4.08, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 13.67, "reference": 13.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 390, "frequency": 4.1, "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": "DSP", "alteration_types": ["SNV / small 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"2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 16/390 patients (4.1%).", "Without the 6 hypermutated patients: 12/384 (3.12%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 16, "tested": 390, "frequency": 4.1, "frequency_excl_hypermutated": 3.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 1, "tested": 99, "frequency": 1.01, "frequency_excl_hypermutated": 1.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 13.67, "reference": 13.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 390, "frequency": 4.1, "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": "SLIT3", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 15, "tested": 390, "frequency": 3.85, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 3.85}, "major_variants": ["V596M (n=2)", "R744C (n=1)", "A1174T (n=1)", "D1370N (n=1)", "R469* (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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"gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 15, "tested": 390, "frequency": 3.85, "frequency_excl_hypermutated": 2.86, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "397/592", "coverage_note": null, "source_id": "gbm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "gbm_cptac_2021", "cohort_name": "CPTAC glioblastoma (Cell 2021)", "altered": 1, "tested": 99, "frequency": 1.01, "frequency_excl_hypermutated": 1.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "99/99", "coverage_note": null, "source_id": "gbm_cptac_2021", "is_reference": false}, {"cohort": "gbm_columbia_2019", "cohort_name": "Columbia glioblastoma (Nat Med 2019)", "altered": 0, "tested": 32, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/42", "coverage_note": null, "source_id": "gbm_columbia_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 12.83, "reference": 12.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 15, "tested": 390, "frequency": 3.85, "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": "PIK3CG", "alteration_types": ["SNV / small indel", "amplification"], "altered": 15, "tested": 390, "frequency": 3.85, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 3.85}, "major_variants": ["V165I (n=2)", "C936S (n=1)", "A156V (n=1)", "D571Y (n=1)", "P424S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": 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false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG 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"gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas glioblastoma (2018), 15/390 patients (3.85%).", "Without the 6 hypermutated patients: 13/384 (3.39%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas glioblastoma (2018)", "altered": 15, "tested": 390, "frequency": 3.85, "frequency_excl_hypermutated": 3.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": 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"genomic_coordinate": null, "observed": 82, "observed_status": "observed", "observed_unit": "patients", "tested": 575, "tested_status": "observed", "tested_unit": "patients", "frequency": 14.26, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_tcga_pan_can_atlas_2018"], "source_ids": ["gbm_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PDGFRA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PDGFRA amplification", "genomic_coordinate": null, "observed": 75, "observed_status": "observed", "observed_unit": "patients", "tested": 575, "tested_status": "observed", "tested_unit": "patients", "frequency": 13.04, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_tcga_pan_can_atlas_2018"], "source_ids": ["gbm_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PDGFRA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PDGFRA amplification", "genomic_coordinate": null, "observed": 12, "observed_status": "observed", "observed_unit": "patients", "tested": 96, "tested_status": "observed", "tested_unit": "patients", "frequency": 12.5, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_cptac_2021"], "source_ids": ["gbm_cptac_2021_gistic"], "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": 12, "observed_status": "observed", "observed_unit": "patients", "tested": 96, "tested_status": "observed", "tested_unit": "patients", "frequency": 12.5, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_cptac_2021"], "source_ids": ["gbm_cptac_2021_gistic"], "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": 55, "observed_status": "observed", "observed_unit": "patients", "tested": 575, "tested_status": "observed", "tested_unit": "patients", "frequency": 9.57, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_tcga_pan_can_atlas_2018"], "source_ids": ["gbm_tcga_pan_can_atlas_2018_gistic"], "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": 47, "observed_status": "observed", "observed_unit": "patients", "tested": 575, "tested_status": "observed", "tested_unit": "patients", "frequency": 8.17, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_tcga_pan_can_atlas_2018"], "source_ids": ["gbm_tcga_pan_can_atlas_2018_gistic"], "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": 7, "observed_status": "observed", "observed_unit": "patients", "tested": 96, "tested_status": "observed", "tested_unit": "patients", "frequency": 7.29, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_cptac_2021"], "source_ids": ["gbm_cptac_2021_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "NF1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "NF1 deep deletion", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 96, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.17, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_cptac_2021"], "source_ids": ["gbm_cptac_2021_gistic"], "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": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 96, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.17, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_cptac_2021"], "source_ids": ["gbm_cptac_2021_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PIK3CA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PIK3CA amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 96, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.12, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_cptac_2021"], "source_ids": ["gbm_cptac_2021_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TERT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "TERT amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 96, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.12, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_cptac_2021"], "source_ids": ["gbm_cptac_2021_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MGMT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "MGMT deep deletion", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 96, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.12, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_cptac_2021"], "source_ids": ["gbm_cptac_2021_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PIK3CA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PIK3CA amplification", "genomic_coordinate": null, "observed": 16, "observed_status": "observed", "observed_unit": "patients", "tested": 575, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.78, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_tcga_pan_can_atlas_2018"], "source_ids": ["gbm_tcga_pan_can_atlas_2018_gistic"], "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": 15, "observed_status": "observed", "observed_unit": "patients", "tested": 575, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.61, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_tcga_pan_can_atlas_2018"], "source_ids": ["gbm_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CNTNAP2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CNTNAP2 amplification", "genomic_coordinate": null, "observed": 14, "observed_status": "observed", "observed_unit": "patients", "tested": 575, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.43, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_tcga_pan_can_atlas_2018"], "source_ids": ["gbm_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "KMT2C", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "KMT2C amplification", "genomic_coordinate": null, "observed": 13, "observed_status": "observed", "observed_unit": "patients", "tested": 575, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.26, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_tcga_pan_can_atlas_2018"], "source_ids": ["gbm_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CNTNAP2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CNTNAP2 amplification", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 96, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.08, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_cptac_2021"], "source_ids": ["gbm_cptac_2021_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "KEL", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "KEL amplification", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 96, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.08, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_cptac_2021"], "source_ids": ["gbm_cptac_2021_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MXRA5", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MXRA5 amplification", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 96, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.08, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_cptac_2021"], "source_ids": ["gbm_cptac_2021_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "GALNT17", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "GALNT17 amplification", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 96, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.08, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gbm_cptac_2021"], "source_ids": ["gbm_cptac_2021_gistic"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 3, "total_cohorts": 3}, {"modality": "Copy number (discrete)", "available_cohorts": 2, "total_cohorts": 3}, {"modality": "Structural variant (present, not read)", "available_cohorts": 1, "total_cohorts": 3}], "chromosome_summary": [], "cohorts": [{"name": "TCGA PanCancer Atlas glioblastoma (2018)", "source": "cBioPortal", "accession": "gbm_tcga_pan_can_atlas_2018", "patients": {"value": 390, "status": "observed", "unit": "patients"}, "samples": {"value": 397, "status": "observed", "unit": "samples"}, "disease_subtype": "Glioblastoma Multiforme (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (397)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 390, "patients_in_roster": 390, "frequencies_computed": true, "samples_sequenced": 397, "samples_in_study": 592, "hypermutated_patients": 6, "median_mutations_per_sample": 51, "reason": null}}, {"name": "CPTAC glioblastoma (Cell 2021)", "source": "cBioPortal", "accession": "gbm_cptac_2021", "patients": {"value": 99, "status": "observed", "unit": "patients"}, "samples": {"value": 99, "status": "observed", "unit": "samples"}, "disease_subtype": "Glioblastoma (CPTAC, Cell 2021)", "assay_type": "exome or genome", "sequencing_method": "WES (99)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "gbm_cptac_2021", "is_demo": false, "assay_coverage": {"patients_with_calls": 99, "patients_in_roster": 99, "frequencies_computed": true, "samples_sequenced": 99, "samples_in_study": 99, "hypermutated_patients": 1, "median_mutations_per_sample": 42, "reason": null}}, {"name": "Columbia glioblastoma (Nat Med 2019)", "source": "cBioPortal", "accession": "gbm_columbia_2019", "patients": {"value": 32, "status": "observed", "unit": "patients"}, "samples": {"value": 32, "status": "observed", "unit": "samples"}, "disease_subtype": "Glioblastoma (Columbia, Nat Med. 2019)", "assay_type": "exome or genome", "sequencing_method": "WES (32)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "gbm_columbia_2019", "is_demo": false, "assay_coverage": {"patients_with_calls": 32, "patients_in_roster": 32, "frequencies_computed": true, "samples_sequenced": 32, "samples_in_study": 42, "hypermutated_patients": 0, "median_mutations_per_sample": 0.0, "reason": null}}], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas glioblastoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018", "source_record_id": "gbm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · CPTAC glioblastoma (Cell 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_cptac_2021", "source_record_id": "gbm_cptac_2021", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Columbia glioblastoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=gbm_columbia_2019", "source_record_id": "gbm_columbia_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "limitations": ["A cBioPortal public-API snapshot retrieved 2026-09-17; 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 TCGA PanCancer Atlas glioblastoma (2018) (390 sequenced patients, exome or genome), the most frequently altered of the 45 genes shown are CDKN2A 56.0% (deep deletion), EGFR 44.35% (amplification), PTEN 32.82%, TP53 30.77%, CDK4 14.26% (amplification). Each figure divides by the patients on whom that gene could be called.", "6 of 390 patients are hypermutated (more than 510 non-silent mutations, ten times the cohort median of 51); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 2 are altered in under 2% of this cohort (TERT, MGMT): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "3 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "CDKN2A is deleted in 322 of 575 patients in TCGA PanCancer Atlas glioblastoma (2018).", "numerator": 322, "denominator": 575, "frequency": 56.0, "cohorts": 2, "evidence_confidence": "moderate", "source": "gbm_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-17"}, {"finding": "EGFR is amplified in 255 of 575 patients in TCGA PanCancer Atlas glioblastoma (2018).", "numerator": 255, "denominator": 575, "frequency": 44.35, "cohorts": 3, "evidence_confidence": "moderate", "source": "gbm_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-17"}, {"finding": "PTEN is mutated in 128 of 390 patients in TCGA PanCancer Atlas glioblastoma (2018).", "numerator": 128, "denominator": 390, "frequency": 32.82, "cohorts": 3, "evidence_confidence": "moderate", "source": "gbm_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-17"}], "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": "gbm_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "EGFR", "kind": "SNV / small indel", "gene": "EGFR", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 23.33, "altered": 91, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 17.17, "altered": 17, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 3.12, "altered": 1, "tested": 32, "note": null}]}, {"label": "EGFR", "kind": "amplification", "gene": "EGFR", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 44.35, "altered": 255, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 48.96, "altered": 47, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "PDGFRA", "kind": "SNV / small indel", "gene": "PDGFRA", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.1, "altered": 16, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 3.03, "altered": 3, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "PDGFRA", "kind": "amplification", "gene": "PDGFRA", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 13.04, "altered": 75, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 12.5, "altered": 12, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "PTEN", "kind": "SNV / small indel", "gene": "PTEN", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 32.82, "altered": 128, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 27.27, "altered": 27, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 15.62, "altered": 5, "tested": 32, "note": null}]}, {"label": "PTEN", "kind": "deep deletion", "gene": "PTEN", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.57, "altered": 55, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 12.5, "altered": 12, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 30.77, "altered": 120, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 32.32, "altered": 32, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 9.38, "altered": 3, "tested": 32, "note": null}]}, {"label": "NF1", "kind": "SNV / small indel", "gene": "NF1", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.79, "altered": 46, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 15.15, "altered": 15, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 9.38, "altered": 3, "tested": 32, "note": null}]}, {"label": "NF1", "kind": "deep deletion", "gene": "NF1", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.57, "altered": 9, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 4.17, "altered": 4, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "CDK4", "kind": "SNV / small indel", "gene": "CDK4", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "CDK4", "kind": "amplification", "gene": "CDK4", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 14.26, "altered": 82, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 14.58, "altered": 14, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "MDM2", "kind": "SNV / small indel", "gene": "MDM2", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.77, "altered": 3, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 2.02, "altered": 2, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "MDM2", "kind": "amplification", "gene": "MDM2", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.17, "altered": 47, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 7.29, "altered": 7, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "CDKN2A", "kind": "SNV / small indel", "gene": "CDKN2A", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.03, "altered": 4, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "CDKN2A", "kind": "deep deletion", "gene": "CDKN2A", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 56.0, "altered": 322, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 58.33, "altered": 56, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "RB1", "kind": "SNV / small indel", "gene": "RB1", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.74, "altered": 38, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 10.1, "altered": 10, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 3.12, "altered": 1, "tested": 32, "note": null}]}, {"label": "RB1", "kind": "deep deletion", "gene": "RB1", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.61, "altered": 15, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 4.17, "altered": 4, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.23, "altered": 36, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 11.11, "altered": 11, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 9.38, "altered": 3, "tested": 32, "note": null}]}, {"label": "PIK3CA", "kind": "amplification", "gene": "PIK3CA", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.78, "altered": 16, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 3.12, "altered": 3, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "TERT", "kind": "SNV / small indel", "gene": "TERT", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.28, "altered": 5, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "TERT", "kind": "amplification", "gene": "TERT", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.7, "altered": 4, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 3.12, "altered": 3, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "MGMT", "kind": "SNV / small indel", "gene": "MGMT", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.77, "altered": 3, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "MGMT", "kind": "deep deletion", "gene": "MGMT", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.17, "altered": 1, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 3.12, "altered": 3, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "PIK3R1", "kind": "SNV / small indel", "gene": "PIK3R1", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.0, "altered": 39, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 7.07, "altered": 7, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "ATRX", "kind": "SNV / small indel", "gene": "ATRX", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.23, "altered": 36, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 10.1, "altered": 10, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 3.12, "altered": 1, "tested": 32, "note": null}]}, {"label": "PKHD1", "kind": "SNV / small indel", "gene": "PKHD1", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.67, "altered": 26, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 5.05, "altered": 5, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 6.25, "altered": 2, "tested": 32, "note": null}]}, {"label": "COL6A3", "kind": "SNV / small indel", "gene": "COL6A3", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.41, "altered": 25, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "IDH1", "kind": "SNV / small indel", "gene": "IDH1", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.15, "altered": 24, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 7.07, "altered": 7, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 12.5, "altered": 4, "tested": 32, "note": null}]}, {"label": "HRNR", "kind": "SNV / small indel", "gene": "HRNR", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.38, "altered": 21, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 3.03, "altered": 3, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "FAT2", "kind": "SNV / small indel", "gene": "FAT2", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.38, "altered": 21, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 6.25, "altered": 2, "tested": 32, "note": null}]}, {"label": "RELN", "kind": "SNV / small indel", "gene": "RELN", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.13, "altered": 20, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 3.12, "altered": 1, "tested": 32, "note": null}]}, {"label": "LAMA1", "kind": "SNV / small indel", "gene": "LAMA1", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.13, "altered": 20, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 3.12, "altered": 1, "tested": 32, "note": null}]}, {"label": "CFAP47", "kind": "SNV / small indel", "gene": "CFAP47", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.13, "altered": 20, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 2.02, "altered": 2, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "RIMS2", "kind": "SNV / small indel", "gene": "RIMS2", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.87, "altered": 19, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.87, "altered": 19, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 4.04, "altered": 4, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "KMT2C", "kind": "amplification", "gene": "KMT2C", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.26, "altered": 13, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.04, "altered": 1, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "CNTNAP2", "kind": "SNV / small indel", "gene": "CNTNAP2", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.87, "altered": 19, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 3.03, "altered": 3, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "CNTNAP2", "kind": "amplification", "gene": "CNTNAP2", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.43, "altered": 14, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 2.08, "altered": 2, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "TCHH", "kind": "SNV / small indel", "gene": "TCHH", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.62, "altered": 18, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "STAG2", "kind": "SNV / small indel", "gene": "STAG2", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.62, "altered": 18, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "SDK1", "kind": "SNV / small indel", "gene": "SDK1", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.62, "altered": 18, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 3.12, "altered": 1, "tested": 32, "note": null}]}, {"label": "KEL", "kind": "SNV / small indel", "gene": "KEL", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.62, "altered": 18, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 2.02, "altered": 2, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "KEL", "kind": "amplification", "gene": "KEL", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.39, "altered": 8, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 2.08, "altered": 2, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "HSPG2", "kind": "SNV / small indel", "gene": "HSPG2", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.62, "altered": 18, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "MXRA5", "kind": "SNV / small indel", "gene": "MXRA5", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.36, "altered": 17, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 5.05, "altered": 5, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "MXRA5", "kind": "amplification", "gene": "MXRA5", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.17, "altered": 1, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 2.08, "altered": 2, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "LZTR1", "kind": "SNV / small indel", "gene": "LZTR1", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.36, "altered": 17, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "GALNT17", "kind": "SNV / small indel", "gene": "GALNT17", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.36, "altered": 17, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 2.02, "altered": 2, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "GALNT17", "kind": "amplification", "gene": "GALNT17", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.57, "altered": 9, "tested": 575, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 2.08, "altered": 2, "tested": 96, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gbm_columbia_2019", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "DOCK5", "kind": "SNV / small indel", "gene": "DOCK5", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.36, "altered": 17, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "TAF1L", "kind": "SNV / small indel", "gene": "TAF1L", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.1, "altered": 16, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 2.02, "altered": 2, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "SCN9A", "kind": "SNV / small indel", "gene": "SCN9A", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.1, "altered": 16, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 2.02, "altered": 2, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "MROH2B", "kind": "SNV / small indel", "gene": "MROH2B", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.1, "altered": 16, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 2.02, "altered": 2, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "KIF2B", "kind": "SNV / small indel", "gene": "KIF2B", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.1, "altered": 16, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 3.12, "altered": 1, "tested": 32, "note": null}]}, {"label": "FRAS1", "kind": "SNV / small indel", "gene": "FRAS1", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.1, "altered": 16, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 5.05, "altered": 5, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "observed", "frequency": 3.12, "altered": 1, "tested": 32, "note": null}]}, {"label": "FBN3", "kind": "SNV / small indel", "gene": "FBN3", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.1, "altered": 16, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 4.04, "altered": 4, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "DSP", "kind": "SNV / small indel", "gene": "DSP", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.1, "altered": 16, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "SLIT3", "kind": "SNV / small indel", "gene": "SLIT3", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.85, "altered": 15, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "PIK3CG", "kind": "SNV / small indel", "gene": "PIK3CG", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.85, "altered": 15, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "GRIN2A", "kind": "SNV / small indel", "gene": "GRIN2A", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.85, "altered": 15, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "observed", "frequency": 1.01, "altered": 1, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}, {"label": "FCGBP", "kind": "SNV / small indel", "gene": "FCGBP", "cells": [{"cohort": "gbm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.85, "altered": 15, "tested": 390, "note": null}, {"cohort": "gbm_cptac_2021", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 99, "note": null}, {"cohort": "gbm_columbia_2019", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 32, "note": null}]}]}