{"disease": {"name": "Bladder cancer", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "blca"}, "updated_at": "2026-09-18", "genome_builds": ["hg19"], "cohort_count": 3, "cohort_count_status": "observed", "cohort_count_unit": "cohorts", "evaluable_patients": null, "evaluable_patients_status": "unknown", "evaluable_patients_unit": "patients", "alteration_types": ["SNV", "small indel", "amplification", "deep deletion"], "genes": [{"gene": "FGFR3", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 59, "tested": 410, "frequency": 14.39, "cohort_count": 3, "frequency_range": {"min": 14.39, "max": 90.5}, "major_variants": ["S249C (n=32)", "Y373C (n=8)", "G370C (n=5)", "R248C (n=3)", "G380R (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 59/410 patients (14.39%).", "Without the 2 hypermutated patients: 59/408 (14.46%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 59, "tested": 410, "frequency": 14.39, "frequency_excl_hypermutated": 14.46, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 362, "tested": 400, "frequency": 90.5, "frequency_excl_hypermutated": 90.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 299, "tested": 1244, "frequency": 24.04, "frequency_excl_hypermutated": 23.99, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 47.97, "width": 52.03, "reference": 47.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 59, "tested": 410, "frequency": 14.39, "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": "ERBB2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 50, "tested": 410, "frequency": 12.2, "cohort_count": 3, "frequency_range": {"min": 5.0, "max": 13.42}, "major_variants": ["S310F (n=19)", "R678Q (n=3)", "S310Y (n=3)", "R103Q (n=2)", "V842I (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 50/410 patients (12.2%).", "Without the 2 hypermutated patients: 49/408 (12.01%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 50, "tested": 410, "frequency": 12.2, "frequency_excl_hypermutated": 12.01, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 20, "tested": 400, "frequency": 5.0, "frequency_excl_hypermutated": 4.76, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 167, "tested": 1244, "frequency": 13.42, "frequency_excl_hypermutated": 13.49, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.67, "width": 28.06, "reference": 40.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 50, "tested": 410, "frequency": 12.2, "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": "NECTIN4", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 410, "frequency": 0.73, "cohort_count": 1, "frequency_range": {"min": 0.73, "max": 0.73}, "major_variants": ["S206L (n=1)", "S37* (n=1)", "F196L (n=1)", "R263T (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 3/410 patients (0.73%).", "Without the 2 hypermutated patients: 3/408 (0.74%).", "Largest alteration is amplification: 70/408 (17.16%) in the reference cohort's copy-number profile.", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 410, "frequency": 0.73, "frequency_excl_hypermutated": 0.74, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 57.2, "width": 1.0, "reference": 57.2, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 70, "tested": 408, "frequency": 17.16, "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": "TACSTD2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 2, "tested": 410, "frequency": 0.49, "cohort_count": 1, "frequency_range": {"min": 0.49, "max": 0.49}, "major_variants": ["R245H (n=1)", "D221Y (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 2/410 patients (0.49%).", "Without the 2 hypermutated patients: 2/408 (0.49%).", "Largest alteration is amplification: 6/408 (1.47%) in the reference cohort's copy-number profile.", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 410, "frequency": 0.49, "frequency_excl_hypermutated": 0.49, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.9, "width": 1.0, "reference": 4.9, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 6, "tested": 408, "frequency": 1.47, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CD274", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 5, "tested": 410, "frequency": 1.22, "cohort_count": 3, "frequency_range": {"min": 0.25, "max": 1.22}, "major_variants": ["E188Vfs*18 (n=1)", "R82K (n=1)", "I137M (n=1)", "R260H (n=1)", "W57C (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 5/410 patients (1.22%).", "Without the 2 hypermutated patients: 5/408 (1.23%).", "Largest alteration is amplification: 10/408 (2.45%) in the reference cohort's copy-number profile.", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 5, "tested": 410, "frequency": 1.22, "frequency_excl_hypermutated": 1.23, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 1, "tested": 399, "frequency": 0.25, "frequency_excl_hypermutated": 0.25, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 7, "tested": 1244, "frequency": 0.56, "frequency_excl_hypermutated": 0.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.17, "width": 1.0, "reference": 8.17, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 10, "tested": 408, "frequency": 2.45, "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": "TP53", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 200, "tested": 410, "frequency": 48.78, "cohort_count": 3, "frequency_range": {"min": 20.75, "max": 50.24}, "major_variants": ["R248Q (n=17)", "R280T (n=12)", "E285K (n=11)", "Q331* (n=7)", "E271K (n=6)"], "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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 200/410 patients (48.78%).", "Without the 2 hypermutated patients: 199/408 (48.77%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 200, "tested": 410, "frequency": 48.78, "frequency_excl_hypermutated": 48.77, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 83, "tested": 400, "frequency": 20.75, "frequency_excl_hypermutated": 20.55, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 625, "tested": 1244, "frequency": 50.24, "frequency_excl_hypermutated": 50.16, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 69.17, "width": 30.83, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 200, "tested": 410, "frequency": 48.78, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "RB1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 77, "tested": 410, "frequency": 18.78, "cohort_count": 3, "frequency_range": {"min": 2.75, "max": 18.78}, "major_variants": ["X405_splice (n=4)", "S834* (n=3)", "S829* (n=2)", "Q850* (n=2)", "X605_splice (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 77/410 patients (18.78%).", "Without the 2 hypermutated patients: 76/408 (18.63%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 77, "tested": 410, "frequency": 18.78, "frequency_excl_hypermutated": 18.63, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 11, "tested": 400, "frequency": 2.75, "frequency_excl_hypermutated": 2.76, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 229, "tested": 1244, "frequency": 18.41, "frequency_excl_hypermutated": 18.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.17, "width": 53.43, "reference": 62.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 77, "tested": 410, "frequency": 18.78, "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": "KDM6A", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 104, "tested": 410, "frequency": 25.37, "cohort_count": 3, "frequency_range": {"min": 25.37, "max": 46.0}, "major_variants": ["Q555* (n=9)", "S1061* (n=3)", "X1293_splice (n=3)", "X1183_splice (n=3)", "W1193* (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 104/410 patients (25.37%).", "Without the 2 hypermutated patients: 103/408 (25.25%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 104, "tested": 410, "frequency": 25.37, "frequency_excl_hypermutated": 25.25, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 184, "tested": 400, "frequency": 46.0, "frequency_excl_hypermutated": 45.86, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 400, "tested": 1244, "frequency": 32.15, "frequency_excl_hypermutated": 31.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 84.57, "width": 15.43, "reference": 84.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 104, "tested": 410, "frequency": 25.37, "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": "ARID1A", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 104, "tested": 410, "frequency": 25.37, "cohort_count": 3, "frequency_range": {"min": 24.0, "max": 29.66}, "major_variants": ["S1085* (n=3)", "Q678* (n=2)", "X1367_splice (n=2)", "S614L (n=2)", "D1850Gfs*4 (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 104/410 patients (25.37%).", "Without the 2 hypermutated patients: 103/408 (25.25%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 104, "tested": 410, "frequency": 25.37, "frequency_excl_hypermutated": 25.25, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 96, "tested": 400, "frequency": 24.0, "frequency_excl_hypermutated": 23.81, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 369, "tested": 1244, "frequency": 29.66, "frequency_excl_hypermutated": 29.4, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 80.0, "width": 18.87, "reference": 84.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 104, "tested": 410, "frequency": 25.37, "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": 89, "tested": 410, "frequency": 21.71, "cohort_count": 3, "frequency_range": {"min": 20.9, "max": 29.25}, "major_variants": ["E545K (n=29)", "E542K (n=18)", "H1047R (n=6)", "E545Q (n=3)", "E726K (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 89/410 patients (21.71%).", "Without the 2 hypermutated patients: 87/408 (21.32%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 89, "tested": 410, "frequency": 21.71, "frequency_excl_hypermutated": 21.32, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 117, "tested": 400, "frequency": 29.25, "frequency_excl_hypermutated": 29.07, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 260, "tested": 1244, "frequency": 20.9, "frequency_excl_hypermutated": 20.84, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 69.67, "width": 27.83, "reference": 72.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 89, "tested": 410, "frequency": 21.71, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TERT", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 4, "tested": 410, "frequency": 0.98, "cohort_count": 3, "frequency_range": {"min": 0.98, "max": 2.57}, "major_variants": ["N204K (n=1)", "G830V (n=1)", "R859Q (n=1)", "L853V (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 4/410 patients (0.98%).", "Without the 2 hypermutated patients: 4/408 (0.98%).", "Largest alteration is amplification: 39/408 (9.56%) in the reference cohort's copy-number profile.", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 410, "frequency": 0.98, "frequency_excl_hypermutated": 0.98, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 9, "tested": 400, "frequency": 2.25, "frequency_excl_hypermutated": 2.01, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 32, "tested": 1244, "frequency": 2.57, "frequency_excl_hypermutated": 2.42, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.87, "width": 1.0, "reference": 31.87, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 39, "tested": 408, "frequency": 9.56, "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": "STAG2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 56, "tested": 410, "frequency": 13.66, "cohort_count": 3, "frequency_range": {"min": 12.06, "max": 22.31}, "major_variants": ["Q593* (n=5)", "R216* (n=3)", "X699_splice (n=2)", "R1012* (n=2)", "I563M (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 56/410 patients (13.66%).", "Without the 2 hypermutated patients: 55/408 (13.48%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 56, "tested": 410, "frequency": 13.66, "frequency_excl_hypermutated": 13.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 89, "tested": 399, "frequency": 22.31, "frequency_excl_hypermutated": 22.36, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 150, "tested": 1244, "frequency": 12.06, "frequency_excl_hypermutated": 11.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 40.2, "width": 34.17, "reference": 45.53, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 56, "tested": 410, "frequency": 13.66, "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": "KMT2D", "alteration_types": ["SNV / small indel", "amplification"], "altered": 117, "tested": 410, "frequency": 28.54, "cohort_count": 3, "frequency_range": {"min": 27.25, "max": 33.33}, "major_variants": ["X2743_splice (n=2)", "Q928* (n=2)", "Q52* (n=2)", "R2685* (n=2)", "Q1023* (n=2)"], "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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 117/410 patients (28.54%).", "Without the 2 hypermutated patients: 115/408 (28.19%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 117, "tested": 410, "frequency": 28.54, "frequency_excl_hypermutated": 28.19, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 133, "tested": 399, "frequency": 33.33, "frequency_excl_hypermutated": 33.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 339, "tested": 1244, "frequency": 27.25, "frequency_excl_hypermutated": 26.9, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 90.83, "width": 9.17, "reference": 95.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 117, "tested": 410, "frequency": 28.54, "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": "KMT2C", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 79, "tested": 410, "frequency": 19.27, "cohort_count": 3, "frequency_range": {"min": 14.15, "max": 20.05}, "major_variants": ["F357L (n=2)", "Q202* (n=2)", "P3898A (n=1)", "R1095T (n=1)", "A2254V (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 79/410 patients (19.27%).", "Without the 2 hypermutated patients: 77/408 (18.87%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 79, "tested": 410, "frequency": 19.27, "frequency_excl_hypermutated": 18.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 80, "tested": 399, "frequency": 20.05, "frequency_excl_hypermutated": 19.85, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 176, "tested": 1244, "frequency": 14.15, "frequency_excl_hypermutated": 13.73, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 47.17, "width": 19.66, "reference": 64.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 79, "tested": 410, "frequency": 19.27, "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": "EP300", "alteration_types": ["SNV / small indel", "deep deletion", "amplification"], "altered": 63, "tested": 410, "frequency": 15.37, "cohort_count": 3, "frequency_range": {"min": 12.14, "max": 15.5}, "major_variants": ["Q1082* (n=4)", "Y1414C (n=2)", "S952* (n=1)", "W1509C (n=1)", "D1188H (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 63/410 patients (15.37%).", "Without the 2 hypermutated patients: 61/408 (14.95%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 63, "tested": 410, "frequency": 15.37, "frequency_excl_hypermutated": 14.95, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 62, "tested": 400, "frequency": 15.5, "frequency_excl_hypermutated": 15.29, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 151, "tested": 1244, "frequency": 12.14, "frequency_excl_hypermutated": 11.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 40.47, "width": 11.2, "reference": 51.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 63, "tested": 410, "frequency": 15.37, "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": "ATM", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 55, "tested": 410, "frequency": 13.41, "cohort_count": 3, "frequency_range": {"min": 12.62, "max": 14.0}, "major_variants": ["E2164Q (n=2)", "Q1839* (n=2)", "R2713K (n=2)", "R329T (n=1)", "R1466* (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 55/410 patients (13.41%).", "Without the 2 hypermutated patients: 53/408 (12.99%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 55, "tested": 410, "frequency": 13.41, "frequency_excl_hypermutated": 12.99, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 56, "tested": 400, "frequency": 14.0, "frequency_excl_hypermutated": 13.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 157, "tested": 1244, "frequency": 12.62, "frequency_excl_hypermutated": 12.28, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 42.07, "width": 4.6, "reference": 44.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 55, "tested": 410, "frequency": 13.41, "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": "BIRC6", "alteration_types": ["SNV / small indel", "amplification"], "altered": 53, "tested": 410, "frequency": 12.93, "cohort_count": 1, "frequency_range": {"min": 12.93, "max": 12.93}, "major_variants": ["R4713L (n=2)", "S2883L (n=1)", "R4400W (n=1)", "V3693Yfs*10 (n=1)", "E4428Q (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 53/410 patients (12.93%).", "Without the 2 hypermutated patients: 51/408 (12.5%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 53, "tested": 410, "frequency": 12.93, "frequency_excl_hypermutated": 12.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 43.1, "width": 1.0, "reference": 43.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 53, "tested": 410, "frequency": 12.93, "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": "ELF3", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 52, "tested": 410, "frequency": 12.68, "cohort_count": 3, "frequency_range": {"min": 12.68, "max": 16.96}, "major_variants": ["E262Q (n=3)", "K236N (n=2)", "W138C (n=2)", "X160_splice (n=2)", "X55_splice (n=2)"], "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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 52/410 patients (12.68%).", "Without the 2 hypermutated patients: 51/408 (12.5%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 52, "tested": 410, "frequency": 12.68, "frequency_excl_hypermutated": 12.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 49, "tested": 289, "frequency": 16.96, "frequency_excl_hypermutated": 17.01, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 143, "tested": 973, "frequency": 14.7, "frequency_excl_hypermutated": 14.68, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 42.27, "width": 14.26, "reference": 42.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 52, "tested": 410, "frequency": 12.68, "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": "CREBBP", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 51, "tested": 410, "frequency": 12.44, "cohort_count": 3, "frequency_range": {"min": 12.44, "max": 21.75}, "major_variants": ["D1435H (n=2)", "X1279_splice (n=2)", "Q540* (n=2)", "X1520_splice (n=1)", "S1078* (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 51/410 patients (12.44%).", "Without the 2 hypermutated patients: 49/408 (12.01%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 51, "tested": 410, "frequency": 12.44, "frequency_excl_hypermutated": 12.01, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 87, "tested": 400, "frequency": 21.75, "frequency_excl_hypermutated": 21.55, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 169, "tested": 1244, "frequency": 13.59, "frequency_excl_hypermutated": 13.41, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 41.47, "width": 31.03, "reference": 41.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 51, "tested": 410, "frequency": 12.44, "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": "FAT1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 49, "tested": 410, "frequency": 11.95, "cohort_count": 3, "frequency_range": {"min": 11.95, "max": 12.14}, "major_variants": ["S3707* (n=2)", "Q3585* (n=1)", "I2276M (n=1)", "S2029* (n=1)", "Q1537* (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 49/410 patients (11.95%).", "Without the 2 hypermutated patients: 48/408 (11.76%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 49, "tested": 410, "frequency": 11.95, "frequency_excl_hypermutated": 11.76, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 48, "tested": 399, "frequency": 12.03, "frequency_excl_hypermutated": 11.81, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 151, "tested": 1244, "frequency": 12.14, "frequency_excl_hypermutated": 11.71, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 39.83, "width": 1.0, "reference": 39.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 49, "tested": 410, "frequency": 11.95, "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": "SPTAN1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 46, "tested": 410, "frequency": 11.22, "cohort_count": 1, "frequency_range": {"min": 11.22, "max": 11.22}, "major_variants": ["E1974K (n=2)", "Q2253* (n=1)", "Q404Kfs*35 (n=1)", "Q740E (n=1)", "K981N (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 46/410 patients (11.22%).", "Without the 2 hypermutated patients: 45/408 (11.03%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 46, "tested": 410, "frequency": 11.22, "frequency_excl_hypermutated": 11.03, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 37.4, "width": 1.0, "reference": 37.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 46, "tested": 410, "frequency": 11.22, "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": "KMT2A", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 46, "tested": 410, "frequency": 11.22, "cohort_count": 3, "frequency_range": {"min": 9.52, "max": 11.58}, "major_variants": ["Q805* (n=1)", "R1264* (n=1)", "E1444Q (n=1)", "G1566E (n=1)", "E2451* (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 46/410 patients (11.22%).", "Without the 2 hypermutated patients: 46/408 (11.27%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 46, "tested": 410, "frequency": 11.22, "frequency_excl_hypermutated": 11.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 38, "tested": 399, "frequency": 9.52, "frequency_excl_hypermutated": 9.3, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 144, "tested": 1244, "frequency": 11.58, "frequency_excl_hypermutated": 11.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.73, "width": 6.87, "reference": 37.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 46, "tested": 410, "frequency": 11.22, "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": "AKAP9", "alteration_types": ["SNV / small indel", "amplification"], "altered": 46, "tested": 410, "frequency": 11.22, "cohort_count": 1, "frequency_range": {"min": 11.22, "max": 11.22}, "major_variants": ["E3586K (n=1)", "R1562T (n=1)", "M3312I (n=1)", "Q365H (n=1)", "L3448Tfs*10 (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 46/410 patients (11.22%).", "Without the 2 hypermutated patients: 44/408 (10.78%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 46, "tested": 410, "frequency": 11.22, "frequency_excl_hypermutated": 10.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 37.4, "width": 1.0, "reference": 37.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 46, "tested": 410, "frequency": 11.22, "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": "PDE4DIP", "alteration_types": ["SNV / small indel", "amplification"], "altered": 43, "tested": 410, "frequency": 10.49, "cohort_count": 1, "frequency_range": {"min": 10.49, "max": 10.49}, "major_variants": ["S1383* (n=2)", "R510C (n=1)", "M214V (n=1)", "Q1944E (n=1)", "D1069N (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 43/410 patients (10.49%).", "Without the 2 hypermutated patients: 42/408 (10.29%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 43, "tested": 410, "frequency": 10.49, "frequency_excl_hypermutated": 10.29, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 34.97, "width": 1.0, "reference": 34.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 43, "tested": 410, "frequency": 10.49, "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": "ERBB3", "alteration_types": ["SNV / small indel", "amplification"], "altered": 43, "tested": 410, "frequency": 10.49, "cohort_count": 3, "frequency_range": {"min": 8.75, "max": 11.58}, "major_variants": ["M91I (n=4)", "E332K (n=3)", "V104L (n=3)", "D297Y (n=2)", "E925Q (n=2)"], "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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 43/410 patients (10.49%).", "Without the 2 hypermutated patients: 43/408 (10.54%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 43, "tested": 410, "frequency": 10.49, "frequency_excl_hypermutated": 10.54, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 35, "tested": 400, "frequency": 8.75, "frequency_excl_hypermutated": 8.52, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 144, "tested": 1244, "frequency": 11.58, "frequency_excl_hypermutated": 11.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 29.17, "width": 9.43, "reference": 34.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 43, "tested": 410, "frequency": 10.49, "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": "MDN1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 41, "tested": 410, "frequency": 10.0, "cohort_count": 1, "frequency_range": {"min": 10.0, "max": 10.0}, "major_variants": ["E241Q (n=1)", "S1338Y (n=1)", "E1552K (n=1)", "E2260Q (n=1)", "S857F (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 41/410 patients (10.0%).", "Without the 2 hypermutated patients: 39/408 (9.56%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 41, "tested": 410, "frequency": 10.0, "frequency_excl_hypermutated": 9.56, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 33.33, "width": 1.0, "reference": 33.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 41, "tested": 410, "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": "UBR4", "alteration_types": ["SNV / small indel", "amplification"], "altered": 40, "tested": 410, "frequency": 9.76, "cohort_count": 1, "frequency_range": {"min": 9.76, "max": 9.76}, "major_variants": ["T1473R (n=1)", "D2461N (n=1)", "E2487D (n=1)", "K68N (n=1)", "I1751T (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 40/410 patients (9.76%).", "Without the 2 hypermutated patients: 39/408 (9.56%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 40, "tested": 410, "frequency": 9.76, "frequency_excl_hypermutated": 9.56, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 32.53, "width": 1.0, "reference": 32.53, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 40, "tested": 410, "frequency": 9.76, "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": "BRCA2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 40, "tested": 410, "frequency": 9.76, "cohort_count": 3, "frequency_range": {"min": 7.5, "max": 9.76}, "major_variants": ["T868I (n=1)", "Q649H (n=1)", "E1126K (n=1)", "E897K (n=1)", "E826* (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 40/410 patients (9.76%).", "Without the 2 hypermutated patients: 38/408 (9.31%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 40, "tested": 410, "frequency": 9.76, "frequency_excl_hypermutated": 9.31, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 30, "tested": 400, "frequency": 7.5, "frequency_excl_hypermutated": 7.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 103, "tested": 1244, "frequency": 8.28, "frequency_excl_hypermutated": 8.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 25.0, "width": 7.53, "reference": 32.53, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 40, "tested": 410, "frequency": 9.76, "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": "CDKN1A", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 39, "tested": 410, "frequency": 9.51, "cohort_count": 3, "frequency_range": {"min": 9.51, "max": 16.54}, "major_variants": ["Q10* (n=3)", "M38Nfs*10 (n=3)", "D62* (n=2)", "F22Lfs*9 (n=2)", "W49* (n=2)"], "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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 39/410 patients (9.51%).", "Without the 2 hypermutated patients: 39/408 (9.56%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 39, "tested": 410, "frequency": 9.51, "frequency_excl_hypermutated": 9.56, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 66, "tested": 399, "frequency": 16.54, "frequency_excl_hypermutated": 16.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 153, "tested": 1244, "frequency": 12.3, "frequency_excl_hypermutated": 12.28, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.7, "width": 23.43, "reference": 31.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 39, "tested": 410, "frequency": 9.51, "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": "USP34", "alteration_types": ["SNV / small indel", "amplification"], "altered": 38, "tested": 410, "frequency": 9.27, "cohort_count": 1, "frequency_range": {"min": 9.27, "max": 9.27}, "major_variants": ["L395F (n=1)", "E386Q (n=1)", "D3458H (n=1)", "R2375H (n=1)", "L3151V (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 38/410 patients (9.27%).", "Without the 2 hypermutated patients: 36/408 (8.82%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 38, "tested": 410, "frequency": 9.27, "frequency_excl_hypermutated": 8.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene 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"https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 38/410 patients (9.27%).", "Without the 2 hypermutated patients: 37/408 (9.07%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 38, "tested": 410, "frequency": 9.27, "frequency_excl_hypermutated": 9.07, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.9, "width": 1.0, "reference": 30.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 38, "tested": 410, "frequency": 9.27, "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": "FREM2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 38, "tested": 410, "frequency": 9.27, "cohort_count": 1, "frequency_range": {"min": 9.27, "max": 9.27}, "major_variants": ["S1112L (n=1)", "L468V (n=1)", "D2245H (n=1)", "V1575M (n=1)", "A258T (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the 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false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 38/410 patients (9.27%).", "Without the 2 hypermutated patients: 36/408 (8.82%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "altered": 38, "tested": 410, "frequency": 9.27, "frequency_excl_hypermutated": 8.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.9, "width": 1.0, "reference": 30.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 38, "tested": 410, "frequency": 9.27, "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": "ERCC2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 38, "tested": 410, "frequency": 9.27, "cohort_count": 3, "frequency_range": {"min": 7.0, "max": 11.82}, "major_variants": ["N238S (n=9)", "Y72C (n=3)", "Y14C (n=3)", "S44L (n=3)", "E86Q (n=2)"], "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 · 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"altered": 38, "tested": 410, "frequency": 9.27, "frequency_excl_hypermutated": 9.07, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "410/411", "coverage_note": null, "source_id": "blca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "bladder_msk_2023", "cohort_name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "altered": 28, "tested": 400, "frequency": 7.0, "frequency_excl_hypermutated": 7.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": 147, "tested": 1244, "frequency": 11.82, "frequency_excl_hypermutated": 11.63, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 23.33, "width": 16.07, "reference": 30.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 38, "tested": 410, "frequency": 9.27, "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": "UTRN", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 37, "tested": 410, "frequency": 9.02, "cohort_count": 1, "frequency_range": {"min": 9.02, "max": 9.02}, "major_variants": ["R1864T (n=1)", "Q3250H (n=1)", "S2549I (n=1)", "Q595R (n=1)", "R1367S (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 · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: 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"not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "526/526", "coverage_note": null, "source_id": "bladder_msk_2023", "is_reference": false}, {"cohort": "paired_bladder_2022", "cohort_name": "Bladder Cancer (MSK, Cell Reports 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.07, "width": 1.0, "reference": 30.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 37, "tested": 410, "frequency": 9.02, "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": "RNF213", "alteration_types": ["SNV / small indel", "amplification"], "altered": 37, "tested": 410, "frequency": 9.02, "cohort_count": 1, "frequency_range": {"min": 9.02, "max": 9.02}, "major_variants": ["S3072C (n=1)", "A3266V (n=1)", "L3103F (n=1)", "E4085K (n=1)", "S1005* (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 · Bladder 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TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 37/410 patients (9.02%).", "Without the 2 hypermutated patients: 36/408 (8.82%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", "cohort_name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", 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"Not on this cohort's gene panel.", "evaluable": false, "coverage": "1659/1659", "coverage_note": null, "source_id": "paired_bladder_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.07, "width": 1.0, "reference": 30.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 37, "tested": 410, "frequency": 9.02, "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": "MYCBP2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 37, "tested": 410, "frequency": 9.02, "cohort_count": 1, "frequency_range": {"min": 9.02, "max": 9.02}, "major_variants": ["I156M (n=1)", "E2108K (n=1)", "K3780R (n=1)", "S1904F (n=1)", "D1895N (n=1)"], 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"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 · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas), 36/410 patients (8.78%).", "Without the 2 hypermutated patients: 35/408 (8.58%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "blca_tcga_pan_can_atlas_2018", 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"copy_number", "gene": "ERBB2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "ERBB2 amplification", "genomic_coordinate": null, "observed": 98, "observed_status": "observed", "observed_unit": "patients", "tested": 1244, "tested_status": "observed", "tested_unit": "patients", "frequency": 7.88, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["paired_bladder_2022"], "source_ids": ["paired_bladder_2022_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FGFR3", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "FGFR3 amplification", "genomic_coordinate": null, "observed": 26, "observed_status": "observed", "observed_unit": "patients", "tested": 400, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.5, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["bladder_msk_2023"], "source_ids": ["bladder_msk_2023_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ERBB2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "ERBB2 amplification", "genomic_coordinate": null, "observed": 22, "observed_status": "observed", "observed_unit": "patients", "tested": 408, "tested_status": "observed", "tested_unit": "patients", "frequency": 5.39, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["blca_tcga_pan_can_atlas_2018"], "source_ids": ["blca_tcga_pan_can_atlas_2018_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": 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"moderate", "details": null}, {"event_type": "copy_number", "gene": "FGFR3", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "FGFR3 amplification", "genomic_coordinate": null, "observed": 15, "observed_status": "observed", "observed_unit": "patients", "tested": 408, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.68, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["blca_tcga_pan_can_atlas_2018"], "source_ids": ["blca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CREBBP", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "CREBBP deep deletion", "genomic_coordinate": null, "observed": 15, "observed_status": "observed", "observed_unit": "patients", "tested": 408, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.68, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["blca_tcga_pan_can_atlas_2018"], "source_ids": ["blca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FREM2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "FREM2 deep deletion", "genomic_coordinate": null, "observed": 14, "observed_status": "observed", "observed_unit": "patients", "tested": 408, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.43, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["blca_tcga_pan_can_atlas_2018"], "source_ids": ["blca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "KDM6A", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "KDM6A deep deletion", "genomic_coordinate": null, "observed": 13, "observed_status": "observed", "observed_unit": "patients", "tested": 408, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.19, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["blca_tcga_pan_can_atlas_2018"], "source_ids": ["blca_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": 38, "observed_status": "observed", "observed_unit": "patients", "tested": 1244, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.05, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["paired_bladder_2022"], "source_ids": ["paired_bladder_2022_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FAT1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "FAT1 deep deletion", "genomic_coordinate": null, "observed": 12, "observed_status": "observed", "observed_unit": "patients", "tested": 408, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.94, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["blca_tcga_pan_can_atlas_2018"], "source_ids": ["blca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "USP34", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "USP34 amplification", "genomic_coordinate": null, "observed": 11, "observed_status": "observed", "observed_unit": "patients", "tested": 408, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.7, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["blca_tcga_pan_can_atlas_2018"], "source_ids": ["blca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CD274", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CD274 amplification", "genomic_coordinate": null, "observed": 10, "observed_status": "observed", "observed_unit": "patients", "tested": 408, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.45, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["blca_tcga_pan_can_atlas_2018"], "source_ids": ["blca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MED13", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MED13 amplification", "genomic_coordinate": null, "observed": 10, "observed_status": "observed", "observed_unit": "patients", "tested": 408, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.45, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["blca_tcga_pan_can_atlas_2018"], "source_ids": ["blca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "LAMA3", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "LAMA3 amplification", "genomic_coordinate": null, "observed": 9, "observed_status": "observed", "observed_unit": "patients", "tested": 408, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.21, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["blca_tcga_pan_can_atlas_2018"], "source_ids": ["blca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FGFR3", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "FGFR3 amplification", "genomic_coordinate": null, "observed": 25, "observed_status": "observed", "observed_unit": "patients", "tested": 1244, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.01, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["paired_bladder_2022"], "source_ids": ["paired_bladder_2022_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ERBB2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "ERBB2 amplification", "genomic_coordinate": null, "observed": 8, "observed_status": "observed", "observed_unit": "patients", "tested": 400, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.0, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["bladder_msk_2023"], "source_ids": ["bladder_msk_2023_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "STAG2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "STAG2 deep deletion", "genomic_coordinate": null, "observed": 8, "observed_status": "observed", "observed_unit": "patients", "tested": 400, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.0, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["bladder_msk_2023"], "source_ids": ["bladder_msk_2023_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ELF3", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "ELF3 amplification", "genomic_coordinate": null, "observed": 8, "observed_status": "observed", "observed_unit": "patients", "tested": 400, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.0, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["bladder_msk_2023"], "source_ids": ["bladder_msk_2023_gistic"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 3, "total_cohorts": 3}, {"modality": "Copy number (discrete)", "available_cohorts": 3, "total_cohorts": 3}, {"modality": "Structural variant (present, not read)", "available_cohorts": 3, "total_cohorts": 3}], "chromosome_summary": [], "cohorts": [{"name": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source": "cBioPortal", "accession": "blca_tcga_pan_can_atlas_2018", "patients": {"value": 410, "status": "observed", "unit": "patients"}, "samples": {"value": 410, "status": "observed", "unit": "samples"}, "disease_subtype": "Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (410)", "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": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "blca_tcga_pan_can_atlas_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 410, "patients_in_roster": 410, "frequencies_computed": true, "samples_sequenced": 410, "samples_in_study": 411, "hypermutated_patients": 2, "median_mutations_per_sample": 165.0, "reason": null}}, {"name": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "source": "cBioPortal", "accession": "bladder_msk_2023", "patients": {"value": 400, "status": "observed", "unit": "patients"}, "samples": {"value": 526, "status": "observed", "unit": "samples"}, "disease_subtype": "Bladder Cancer (MSK, Clin Cancer Res 2023)", "assay_type": "targeted panel", "sequencing_method": "IMPACT468 (288), IMPACT410 (104), ACCESS129 (86), IMPACT505 (34), IMPACT341 (14)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "panel genes only; per-gene denominators", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "bladder_msk_2023", "is_demo": false, "assay_coverage": {"patients_with_calls": 400, "patients_in_roster": 400, "frequencies_computed": true, "samples_sequenced": 526, "samples_in_study": 526, "hypermutated_patients": 1, "median_mutations_per_sample": 8.0, "reason": null}}, {"name": "Bladder Cancer (MSK, Cell Reports 2022)", "source": "cBioPortal", "accession": "paired_bladder_2022", "patients": {"value": 1244, "status": "observed", "unit": "patients"}, "samples": {"value": 1659, "status": "observed", "unit": "samples"}, "disease_subtype": "Bladder Cancer (MSK, Cell Reports 2022)", "assay_type": "targeted panel", "sequencing_method": "IMPACT468 (1117), IMPACT410 (252), ACCESS129 (132), IMPACT505 (93), IMPACT341 (65)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "panel genes only; per-gene denominators", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "paired_bladder_2022", "is_demo": false, "assay_coverage": {"patients_with_calls": 1244, "patients_in_roster": 1244, "frequencies_computed": true, "samples_sequenced": 1659, "samples_in_study": 1659, "hypermutated_patients": 6, "median_mutations_per_sample": 9, "reason": null}}], "sources": [{"source_name": "cBioPortal · Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018", "source_record_id": "blca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=bladder_msk_2023", "source_record_id": "bladder_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Bladder Cancer (MSK, Cell Reports 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=paired_bladder_2022", "source_record_id": "paired_bladder_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "limitations": ["A cBioPortal public-API snapshot retrieved 2026-09-18; the page does not refresh source data at request time.", "Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.", "For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.", "Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.", "Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.", "Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.", "The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide."], "answer_block": ["In Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) (410 sequenced patients, exome or genome), the most frequently altered of the 44 genes shown are TP53 48.78%, KMT2D 28.54%, KDM6A 25.37%, ARID1A 25.37%, PIK3CA 21.71%. Each figure divides by the patients on whom that gene could be called.", "2 of 410 patients are hypermutated (more than 1650 non-silent mutations, ten times the cohort median of 165); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 1 are altered in under 2% of this cohort (TACSTD2): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "3 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "TP53 is mutated in 200 of 410 patients in Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas).", "numerator": 200, "denominator": 410, "frequency": 48.78, "cohorts": 3, "evidence_confidence": "moderate", "source": "blca_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "KMT2D is mutated in 117 of 410 patients in Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas).", "numerator": 117, "denominator": 410, "frequency": 28.54, "cohorts": 3, "evidence_confidence": "moderate", "source": "blca_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "KDM6A is mutated in 104 of 410 patients in Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas).", "numerator": 104, "denominator": 410, "frequency": 25.37, "cohorts": 3, "evidence_confidence": "moderate", "source": "blca_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}], "research_gaps": [{"kind": "Structural variants", "text": "Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases."}, {"kind": "Context", "text": "Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four."}, {"kind": "Interpretation", "text": "Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts."}], "observations": [], "data_status": "PUBLIC SOURCE SNAPSHOT", "is_demo": false, "reference_cohort": "blca_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "FGFR3", "kind": "SNV / small indel", "gene": "FGFR3", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 14.39, "altered": 59, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 90.5, "altered": 362, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 24.04, "altered": 299, "tested": 1244, "note": null}]}, {"label": "FGFR3", "kind": "amplification", "gene": "FGFR3", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.68, "altered": 15, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 6.5, "altered": 26, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 2.01, "altered": 25, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ERBB2", "kind": "SNV / small indel", "gene": "ERBB2", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.2, "altered": 50, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 5.0, "altered": 20, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 13.42, "altered": 167, "tested": 1244, "note": null}]}, {"label": "ERBB2", "kind": "amplification", "gene": "ERBB2", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.39, "altered": 22, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 2.0, "altered": 8, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 7.88, "altered": 98, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "NECTIN4", "kind": "SNV / small indel", "gene": "NECTIN4", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.73, "altered": 3, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NECTIN4", "kind": "amplification", "gene": "NECTIN4", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 17.16, "altered": 70, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TACSTD2", "kind": "SNV / small indel", "gene": "TACSTD2", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.49, "altered": 2, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CD274", "kind": "SNV / small indel", "gene": "CD274", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.22, "altered": 5, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 0.25, "altered": 1, "tested": 399, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 0.56, "altered": 7, "tested": 1244, "note": null}]}, {"label": "CD274", "kind": "amplification", "gene": "CD274", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.45, "altered": 10, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 0.25, "altered": 1, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 0.8, "altered": 10, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 48.78, "altered": 200, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 20.75, "altered": 83, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 50.24, "altered": 625, "tested": 1244, "note": null}]}, {"label": "RB1", "kind": "SNV / small indel", "gene": "RB1", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 18.78, "altered": 77, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 2.75, "altered": 11, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 18.41, "altered": 229, "tested": 1244, "note": null}]}, {"label": "RB1", "kind": "deep deletion", "gene": "RB1", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.82, "altered": 36, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 0.5, "altered": 2, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 3.05, "altered": 38, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KDM6A", "kind": "SNV / small indel", "gene": "KDM6A", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 25.37, "altered": 104, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 46.0, "altered": 184, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 32.15, "altered": 400, "tested": 1244, "note": null}]}, {"label": "KDM6A", "kind": "deep deletion", "gene": "KDM6A", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.19, "altered": 13, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 1.0, "altered": 4, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 0.8, "altered": 10, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ARID1A", "kind": "SNV / small indel", "gene": "ARID1A", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 25.37, "altered": 104, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 24.0, "altered": 96, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 29.66, "altered": 369, "tested": 1244, "note": null}]}, {"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 21.71, "altered": 89, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 29.25, "altered": 117, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 20.9, "altered": 260, "tested": 1244, "note": null}]}, {"label": "PIK3CA", "kind": "amplification", "gene": "PIK3CA", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.17, "altered": 17, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 0.25, "altered": 1, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 0.4, "altered": 5, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TERT", "kind": "SNV / small indel", "gene": "TERT", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.98, "altered": 4, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 2.25, "altered": 9, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 2.57, "altered": 32, "tested": 1244, "note": null}]}, {"label": "TERT", "kind": "amplification", "gene": "TERT", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.56, "altered": 39, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 0.75, "altered": 3, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 4.26, "altered": 53, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "STAG2", "kind": "SNV / small indel", "gene": "STAG2", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 13.66, "altered": 56, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 22.31, "altered": 89, "tested": 399, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 12.06, "altered": 150, "tested": 1244, "note": null}]}, {"label": "STAG2", "kind": "deep deletion", "gene": "STAG2", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.74, "altered": 3, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 2.0, "altered": 8, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 0.72, "altered": 9, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 28.54, "altered": 117, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 33.33, "altered": 133, "tested": 399, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 27.25, "altered": 339, "tested": 1244, "note": null}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 19.27, "altered": 79, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 20.05, "altered": 80, "tested": 399, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 14.15, "altered": 176, "tested": 1244, "note": null}]}, {"label": "EP300", "kind": "SNV / small indel", "gene": "EP300", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 15.37, "altered": 63, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 15.5, "altered": 62, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 12.14, "altered": 151, "tested": 1244, "note": null}]}, {"label": "ATM", "kind": "SNV / small indel", "gene": "ATM", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 13.41, "altered": 55, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 14.0, "altered": 56, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 12.62, "altered": 157, "tested": 1244, "note": null}]}, {"label": "BIRC6", "kind": "SNV / small indel", "gene": "BIRC6", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.93, "altered": 53, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ELF3", "kind": "SNV / small indel", "gene": "ELF3", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.68, "altered": 52, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 16.96, "altered": 49, "tested": 289, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 14.7, "altered": 143, "tested": 973, "note": null}]}, {"label": "ELF3", "kind": "amplification", "gene": "ELF3", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.25, "altered": 1, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 2.0, "altered": 8, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 0.48, "altered": 6, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CREBBP", "kind": "SNV / small indel", "gene": "CREBBP", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.44, "altered": 51, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 21.75, "altered": 87, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 13.59, "altered": 169, "tested": 1244, "note": null}]}, {"label": "CREBBP", "kind": "deep deletion", "gene": "CREBBP", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.68, "altered": 15, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 1.5, "altered": 6, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 0.8, "altered": 10, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "FAT1", "kind": "SNV / small indel", "gene": "FAT1", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.95, "altered": 49, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 12.03, "altered": 48, "tested": 399, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 12.14, "altered": 151, "tested": 1244, "note": null}]}, {"label": "FAT1", "kind": "deep deletion", "gene": "FAT1", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.94, "altered": 12, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 1.0, "altered": 4, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 1.21, "altered": 15, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SPTAN1", "kind": "SNV / small indel", "gene": "SPTAN1", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.22, "altered": 46, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "KMT2A", "kind": "SNV / small indel", "gene": "KMT2A", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.22, "altered": 46, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 9.52, "altered": 38, "tested": 399, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 11.58, "altered": 144, "tested": 1244, "note": null}]}, {"label": "AKAP9", "kind": "SNV / small indel", "gene": "AKAP9", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.22, "altered": 46, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PDE4DIP", "kind": "SNV / small indel", "gene": "PDE4DIP", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.49, "altered": 43, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PDE4DIP", "kind": "amplification", "gene": "PDE4DIP", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.07, "altered": 37, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ERBB3", "kind": "SNV / small indel", "gene": "ERBB3", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.49, "altered": 43, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 8.75, "altered": 35, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 11.58, "altered": 144, "tested": 1244, "note": null}]}, {"label": "MDN1", "kind": "SNV / small indel", "gene": "MDN1", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.0, "altered": 41, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "UBR4", "kind": "SNV / small indel", "gene": "UBR4", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.76, "altered": 40, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "BRCA2", "kind": "SNV / small indel", "gene": "BRCA2", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.76, "altered": 40, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 7.5, "altered": 30, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 8.28, "altered": 103, "tested": 1244, "note": null}]}, {"label": "CDKN1A", "kind": "SNV / small indel", "gene": "CDKN1A", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.51, "altered": 39, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 16.54, "altered": 66, "tested": 399, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 12.3, "altered": 153, "tested": 1244, "note": null}]}, {"label": "USP34", "kind": "SNV / small indel", "gene": "USP34", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.27, "altered": 38, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "USP34", "kind": "amplification", "gene": "USP34", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.7, "altered": 11, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TRRAP", "kind": "SNV / small indel", "gene": "TRRAP", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.27, "altered": 38, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FREM2", "kind": "SNV / small indel", "gene": "FREM2", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.27, "altered": 38, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FREM2", "kind": "deep deletion", "gene": "FREM2", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.43, "altered": 14, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ERCC2", "kind": "SNV / small indel", "gene": "ERCC2", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.27, "altered": 38, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "observed", "frequency": 7.0, "altered": 28, "tested": 400, "note": null}, {"cohort": "paired_bladder_2022", "status": "observed", "frequency": 11.82, "altered": 147, "tested": 1244, "note": null}]}, {"label": "UTRN", "kind": "SNV / small indel", "gene": "UTRN", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.02, "altered": 37, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "RNF213", "kind": "SNV / small indel", "gene": "RNF213", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.02, "altered": 37, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MYCBP2", "kind": "SNV / small indel", "gene": "MYCBP2", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.02, "altered": 37, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "VCAN", "kind": "SNV / small indel", "gene": "VCAN", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.78, "altered": 36, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MKI67", "kind": "SNV / small indel", "gene": "MKI67", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.78, "altered": 36, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "LAMA3", "kind": "SNV / small indel", "gene": "LAMA3", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.78, "altered": 36, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "LAMA3", "kind": "amplification", "gene": "LAMA3", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.21, "altered": 9, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "HERC2", "kind": "SNV / small indel", "gene": "HERC2", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.78, "altered": 36, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DMXL2", "kind": "SNV / small indel", "gene": "DMXL2", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.78, "altered": 36, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "VPS13D", "kind": "SNV / small indel", "gene": "VPS13D", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.54, "altered": 35, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MED13", "kind": "SNV / small indel", "gene": "MED13", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.54, "altered": 35, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MED13", "kind": "amplification", "gene": "MED13", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.45, "altered": 10, "tested": 408, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "bladder_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 400, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "paired_bladder_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1244, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "DIDO1", "kind": "SNV / small indel", "gene": "DIDO1", "cells": [{"cohort": "blca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.54, "altered": 35, "tested": 410, "note": null}, {"cohort": "bladder_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "paired_bladder_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}]}