{"disease": {"name": "Wilms tumour", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "wt"}, "updated_at": "2026-09-18", "genome_builds": ["hg19", "hg38"], "cohort_count": 2, "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": "WT1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 4, "tested": 652, "frequency": 0.61, "cohort_count": 2, "frequency_range": {"min": 0.61, "max": 5.26}, "major_variants": ["X367_splice (n=1)", "K245* (n=1)", "S381* (n=1)", "R462W (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 4/652 patients (0.61%).", "Largest alteration is deep deletion: 2/124 (1.61%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 4, "tested": 652, "frequency": 0.61, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 2, "tested": 38, "frequency": 5.26, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.37, "width": 1.0, "reference": 5.37, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 2, "tested": 124, "frequency": 1.61, "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": "CTNNB1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 7, "tested": 652, "frequency": 1.07, "cohort_count": 2, "frequency_range": {"min": 1.07, "max": 2.63}, "major_variants": ["S45F (n=1)", "T41N (n=1)", "T3N (n=1)", "E562G (n=1)", "T41A (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 7/652 patients (1.07%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 7, "tested": 652, "frequency": 1.07, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 1, "tested": 38, "frequency": 2.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.57, "width": 5.2, "reference": 3.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 652, "frequency": 1.07, "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": "AMER1", "alteration_types": ["SNV / small indel"], "altered": 1, "tested": 652, "frequency": 0.15, "cohort_count": 2, "frequency_range": {"min": 0.15, "max": 2.63}, "major_variants": ["K166Rfs*4 (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 1/652 patients (0.15%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 1, "tested": 652, "frequency": 0.15, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 1, "tested": 38, "frequency": 2.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.5, "width": 8.27, "reference": 0.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 1, "tested": 652, "frequency": 0.15, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "IGF2", "alteration_types": ["amplification", "deep deletion"], "altered": 0, "tested": 652, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 0/652 patients (0.0%).", "Largest alteration is deep deletion: 3/124 (2.42%) in the reference cohort's copy-number profile.", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 0, "tested": 652, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.07, "width": 1.0, "reference": 8.07, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 3, "tested": 124, "frequency": 2.42, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "TRIM28", "alteration_types": ["deep deletion"], "altered": 0, "tested": 652, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 0/652 patients (0.0%).", "Largest alteration is deep deletion: 1/124 (0.81%) in the reference cohort's copy-number profile.", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 0, "tested": 652, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.7, "width": 1.0, "reference": 2.7, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 1, "tested": 124, "frequency": 0.81, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "SIX1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 4, "tested": 652, "frequency": 0.61, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.61}, "major_variants": ["Q177R (n=4)"], "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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 4/652 patients (0.61%).", "Largest alteration is deep deletion: 1/124 (0.81%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 4, "tested": 652, "frequency": 0.61, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.7, "width": 1.0, "reference": 2.7, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 1, "tested": 124, "frequency": 0.81, "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": "SIX2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 1, "tested": 652, "frequency": 0.15, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.15}, "major_variants": ["Q177R (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 1/652 patients (0.15%).", "Largest alteration is amplification: 2/124 (1.61%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 1, "tested": 652, "frequency": 0.15, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.37, "width": 1.0, "reference": 5.37, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 2, "tested": 124, "frequency": 1.61, "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": "DROSHA", "alteration_types": ["SNV / small indel"], "altered": 6, "tested": 652, "frequency": 0.92, "cohort_count": 2, "frequency_range": {"min": 0.92, "max": 2.63}, "major_variants": ["E1147K (n=3)", "D1151G (n=1)", "Q46* (n=1)", "R414* (n=1)", "D1151A (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 6/652 patients (0.92%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 6, "tested": 652, "frequency": 0.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 1, "tested": 38, "frequency": 2.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.07, "width": 5.7, "reference": 3.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 652, "frequency": 0.92, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "DGCR8", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 652, "frequency": 0.46, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.46}, "major_variants": ["E518K (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 3/652 patients (0.46%).", "Largest alteration is amplification: 1/124 (0.81%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 3, "tested": 652, "frequency": 0.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.7, "width": 1.0, "reference": 2.7, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 1, "tested": 124, "frequency": 0.81, "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": "DICER1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 1, "tested": 652, "frequency": 0.15, "cohort_count": 2, "frequency_range": {"min": 0.15, "max": 2.63}, "major_variants": ["Y1874* (n=1)", "D1709N (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 1/652 patients (0.15%).", "Largest alteration is amplification: 1/124 (0.81%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 1, "tested": 652, "frequency": 0.15, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 1, "tested": 38, "frequency": 2.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.7, "width": 1.0, "reference": 2.7, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 1, "tested": 124, "frequency": 0.81, "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": 15, "tested": 652, "frequency": 2.3, "cohort_count": 2, "frequency_range": {"min": 2.3, "max": 34.21}, "major_variants": ["R342P (n=3)", "R175H (n=3)", "R248W (n=2)", "R342* (n=2)", "R337C (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 15/652 patients (2.3%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 15, "tested": 652, "frequency": 2.3, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 13, "tested": 38, "frequency": 34.21, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.67, "width": 92.33, "reference": 7.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 15, "tested": 652, "frequency": 2.3, "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": "MYCN", "alteration_types": ["SNV / small indel", "amplification"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["P44L (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is amplification: 16/124 (12.9%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 43.0, "width": 1.0, "reference": 43.0, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 16, "tested": 124, "frequency": 12.9, "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": "HLA-DQB1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 7, "tested": 652, "frequency": 1.07, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.07}, "major_variants": ["G102R (n=4)", "R199H (n=3)", "G45A (n=3)", "F41Y (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 7/652 patients (1.07%).", "Largest alteration is amplification: 2/124 (1.61%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 7, "tested": 652, "frequency": 1.07, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.37, "width": 1.0, "reference": 5.37, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 2, "tested": 124, "frequency": 1.61, "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": "CDK11A", "alteration_types": ["SNV / small indel"], "altered": 6, "tested": 652, "frequency": 0.92, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.92}, "major_variants": ["V97A (n=4)", "C109R (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 6/652 patients (0.92%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 6, "tested": 652, "frequency": 0.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 3.07, "reference": 3.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 652, "frequency": 0.92, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TMPRSS13", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 4, "tested": 652, "frequency": 0.61, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.61}, "major_variants": ["A77G (n=3)", "Q78R (n=1)", "Q83_A87del (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 4/652 patients (0.61%).", "Largest alteration is deep deletion: 1/124 (0.81%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 4, "tested": 652, "frequency": 0.61, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.7, "width": 1.0, "reference": 2.7, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 1, "tested": 124, "frequency": 0.81, "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": "MAP3K4", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 652, "frequency": 0.61, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.61}, "major_variants": ["A1199del (n=2)", "P639R (n=1)", "G1366R (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 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"patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 4/652 patients (0.61%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 4, "tested": 652, "frequency": 0.61, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 2.03, "reference": 2.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 652, "frequency": 0.61, "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": "ADCK5", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 4, "tested": 652, "frequency": 0.61, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.61}, "major_variants": ["R17S (n=4)"], "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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 4/652 patients (0.61%).", "Largest alteration is deep deletion: 3/124 (2.42%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 4, "tested": 652, "frequency": 0.61, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.07, "width": 1.0, "reference": 8.07, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 3, "tested": 124, "frequency": 2.42, "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": "MADCAM1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 3, "tested": 652, "frequency": 0.46, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.46}, "major_variants": ["P262Q (n=1)", "P232S (n=1)", "S248P (n=1)", "P246Q (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 3/652 patients (0.46%).", "Largest alteration is deep deletion: 1/124 (0.81%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 3, "tested": 652, "frequency": 0.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.7, "width": 1.0, "reference": 2.7, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 1, "tested": 124, "frequency": 0.81, "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": "AGRN", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 652, "frequency": 0.46, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.46}, "major_variants": ["P828S (n=1)", "R1656W (n=1)", "C901S (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 3/652 patients (0.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 3, "tested": 652, "frequency": 0.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET 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0.46, "max": 2.63}, "major_variants": ["G146V (n=1)", "I282del (n=1)", "R147L (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 3/652 patients (0.46%).", "Largest alteration is amplification: 2/124 (1.61%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": 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"altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "USP36", "alteration_types": ["SNV / small indel", "amplification"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["K959_K960del (n=1)", "R828C (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is amplification: 1/124 (0.81%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.7, "width": 1.0, "reference": 2.7, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 1, "tested": 124, "frequency": 0.81, "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": "SPTBN4", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["A2527V (n=1)", "K2030R (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is amplification: 3/124 (2.42%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.07, "width": 1.0, "reference": 8.07, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 3, "tested": 124, "frequency": 2.42, "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": "SLC75A1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 2, "frequency_range": {"min": 0.31, "max": 2.63}, "major_variants": ["A349T (n=1)", "G334R (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is amplification: 11/124 (8.87%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 1, "tested": 38, "frequency": 2.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 29.57, "width": 1.0, "reference": 29.57, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 11, "tested": 124, "frequency": 8.87, "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": "SLC22A1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["F32L (n=1)", "X426_splice (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent 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"not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.03, "reference": 1.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 652, "frequency": 0.31, "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": "SALL1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["G160S (n=1)", "A951T (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.03, "reference": 1.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 652, "frequency": 0.31, "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": "PRUNE2", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["L2714_T2718del (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware 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"altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.03, "reference": 1.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 652, "frequency": 0.31, "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": "POLR1G", "alteration_types": ["SNV / small indel", "amplification"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["K428del (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is amplification: 2/124 (1.61%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, 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"derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is deep deletion: 1/124 (0.81%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.7, "width": 1.0, "reference": 2.7, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 1, "tested": 124, "frequency": 0.81, "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": "MAX", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["R60Q (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is deep deletion: 1/124 (0.81%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.7, "width": 1.0, "reference": 2.7, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 1, "tested": 124, "frequency": 0.81, "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": "KRTAP10-7", "alteration_types": ["SNV / small indel", "amplification"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["S50_P54del (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is amplification: 1/124 (0.81%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.7, "width": 1.0, "reference": 2.7, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 1, "tested": 124, "frequency": 0.81, "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": "KRI1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["T5A (n=1)", "R219Gfs*6 (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.03, "reference": 1.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 652, "frequency": 0.31, "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": "IRF5", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["R191_L200del (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is amplification: 3/124 (2.42%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.07, "width": 1.0, "reference": 8.07, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 3, "tested": 124, "frequency": 2.42, "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": "HSD17B4", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["R659C (n=1)", "R131H (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is amplification: 1/124 (0.81%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.7, "width": 1.0, "reference": 2.7, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 1, "tested": 124, "frequency": 0.81, "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": "HLA-DRB1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["Y61H (n=1)", "Q178H (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is amplification: 6/124 (4.84%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.13, "width": 1.0, "reference": 16.13, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 6, "tested": 124, "frequency": 4.84, "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": "GPRIN1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["D234Efs*44 (n=1)", "R231Sfs*238 (n=1)", "E233V (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 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"assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.03, "reference": 1.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 652, "frequency": 0.31, "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": "GIGYF2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["Q1237del (n=1)", "Q1005del (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is amplification: 1/124 (0.81%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.7, "width": 1.0, "reference": 2.7, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 1, "tested": 124, "frequency": 0.81, "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": "FMN2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["P958L (n=1)", "G59del (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is amplification: 5/124 (4.03%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.43, "width": 1.0, "reference": 13.43, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 5, "tested": 124, "frequency": 4.03, "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": "FGFR1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["K687E (n=1)", "N577K (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.03, "reference": 1.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 652, "frequency": 0.31, "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": "FAM50A", "alteration_types": ["SNV / small indel", "amplification"], "altered": 2, "tested": 652, "frequency": 0.31, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.31}, "major_variants": ["R180Q (n=1)", "R273Q (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 · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Wilms' Tumor (TARGET, 2018), 2/652 patients (0.31%).", "Largest alteration is amplification: 1/124 (0.81%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "wt_target_2018_pub", "cohort_name": "Pediatric Wilms' Tumor (TARGET, 2018)", "altered": 2, "tested": 652, "frequency": 0.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "657/657", "coverage_note": null, "source_id": "wt_target_2018_pub", "is_reference": true}, {"cohort": "wt_target_gdc", "cohort_name": "Wilms' Tumor (TARGET GDC, 2025)", "altered": 0, "tested": 38, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "42/132", "coverage_note": null, "source_id": "wt_target_gdc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.7, "width": 1.0, "reference": 2.7, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 1, "tested": 124, "frequency": 0.81, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}], "variants": [], "genomic_events": [{"event_type": "copy_number", "gene": "MYCN", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MYCN amplification", "genomic_coordinate": null, "observed": 16, "observed_status": "observed", "observed_unit": "patients", "tested": 124, "tested_status": "observed", "tested_unit": "patients", "frequency": 12.9, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["wt_target_2018_pub"], "source_ids": ["wt_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SLC75A1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "SLC75A1 amplification", "genomic_coordinate": null, "observed": 11, "observed_status": "observed", "observed_unit": "patients", "tested": 124, "tested_status": "observed", "tested_unit": "patients", "frequency": 8.87, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["wt_target_2018_pub"], "source_ids": ["wt_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "HLA-DRB1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "HLA-DRB1 amplification", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 124, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.84, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["wt_target_2018_pub"], "source_ids": ["wt_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "HLA-DRB1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "HLA-DRB1 deep deletion", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 124, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.03, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["wt_target_2018_pub"], "source_ids": ["wt_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FMN2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "FMN2 amplification", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 124, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.03, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["wt_target_2018_pub"], "source_ids": ["wt_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "IGF2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "IGF2 deep deletion", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 124, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.42, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["wt_target_2018_pub"], "source_ids": ["wt_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ADCK5", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "ADCK5 deep deletion", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 124, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.42, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["wt_target_2018_pub"], "source_ids": ["wt_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SPTBN4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "SPTBN4 amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 124, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.42, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["wt_target_2018_pub"], "source_ids": ["wt_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "IRF5", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "IRF5 amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 124, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.42, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["wt_target_2018_pub"], "source_ids": ["wt_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Copy number (discrete)", "available_cohorts": 1, "total_cohorts": 2}, {"modality": "Structural variant (present, not read)", "available_cohorts": 0, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "Pediatric Wilms' Tumor (TARGET, 2018)", "source": "cBioPortal", "accession": "wt_target_2018_pub", "patients": {"value": 652, "status": "observed", "unit": "patients"}, "samples": {"value": 657, "status": "observed", "unit": "samples"}, "disease_subtype": "Pediatric Wilms' Tumor (TARGET, 2018)", "assay_type": "exome or genome", "sequencing_method": "WES (657)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "wt_target_2018_pub", "is_demo": false, "assay_coverage": {"patients_with_calls": 652, "patients_in_roster": 652, "frequencies_computed": true, "samples_sequenced": 657, "samples_in_study": 657, "hypermutated_patients": 0, "median_mutations_per_sample": 0, "reason": null}}, {"name": "Wilms' Tumor (TARGET GDC, 2025)", "source": "cBioPortal", "accession": "wt_target_gdc", "patients": {"value": 38, "status": "observed", "unit": "patients"}, "samples": {"value": 42, "status": "observed", "unit": "samples"}, "disease_subtype": "Wilms' Tumor (TARGET GDC, 2025)", "assay_type": "exome or genome", "sequencing_method": "WES (42)", "genome_build": "hg38", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "wt_target_gdc", "is_demo": false, "assay_coverage": {"patients_with_calls": 38, "patients_in_roster": 38, "frequencies_computed": true, "samples_sequenced": 42, "samples_in_study": 132, "hypermutated_patients": 0, "median_mutations_per_sample": 6.0, "reason": null}}], "sources": [{"source_name": "cBioPortal · Pediatric Wilms' Tumor (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_2018_pub", "source_record_id": "wt_target_2018_pub", "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 · Wilms' Tumor (TARGET GDC, 2025)", "source_url": "https://www.cbioportal.org/study/summary?id=wt_target_gdc", "source_record_id": "wt_target_gdc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg38", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "limitations": ["A cBioPortal public-API snapshot retrieved 2026-09-18; the page does not refresh source data at request time.", "Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.", "For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.", "Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.", "Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.", "Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.", "The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide."], "answer_block": ["In Pediatric Wilms' Tumor (TARGET, 2018) (652 sequenced patients, exome or genome), the most frequently altered of the 45 genes shown are MYCN 12.9% (amplification), SLC75A1 8.87% (amplification), HLA-DRB1 4.84% (amplification), FMN2 4.03% (amplification), IGF2 2.42% (deep deletion). Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 9 are altered in under 2% of this cohort (WT1, CTNNB1, AMER1, TRIM28, SIX1, SIX2, DROSHA, DGCR8, DICER1): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "2 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "MYCN is amplified in 16 of 124 patients in Pediatric Wilms' Tumor (TARGET, 2018).", "numerator": 16, "denominator": 124, "frequency": 12.9, "cohorts": 1, "evidence_confidence": "moderate", "source": "wt_target_2018_pub", "retrieved_at": "2026-09-18"}, {"finding": "SLC75A1 is amplified in 11 of 124 patients in Pediatric Wilms' Tumor (TARGET, 2018).", "numerator": 11, "denominator": 124, "frequency": 8.87, "cohorts": 2, "evidence_confidence": "moderate", "source": "wt_target_2018_pub", "retrieved_at": "2026-09-18"}, {"finding": "HLA-DRB1 is amplified in 6 of 124 patients in Pediatric Wilms' Tumor (TARGET, 2018).", "numerator": 6, "denominator": 124, "frequency": 4.84, "cohorts": 1, "evidence_confidence": "moderate", "source": "wt_target_2018_pub", "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": "wt_target_2018_pub", "region_events": [], "matrix": [{"label": "WT1", "kind": "SNV / small indel", "gene": "WT1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.61, "altered": 4, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "observed", "frequency": 5.26, "altered": 2, "tested": 38, "note": null}]}, {"label": "CTNNB1", "kind": "SNV / small indel", "gene": "CTNNB1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 1.07, "altered": 7, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "observed", "frequency": 2.63, "altered": 1, "tested": 38, "note": null}]}, {"label": "AMER1", "kind": "SNV / small indel", "gene": "AMER1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.15, "altered": 1, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "observed", "frequency": 2.63, "altered": 1, "tested": 38, "note": null}]}, {"label": "IGF2", "kind": "SNV / small indel", "gene": "IGF2", "cells": [{"cohort": "wt_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "IGF2", "kind": "deep deletion", "gene": "IGF2", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 2.42, "altered": 3, "tested": 124, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "wt_target_gdc", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "TRIM28", "kind": "SNV / small indel", "gene": "TRIM28", "cells": [{"cohort": "wt_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "SIX1", "kind": "SNV / small indel", "gene": "SIX1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.61, "altered": 4, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "SIX2", "kind": "SNV / small indel", "gene": "SIX2", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.15, "altered": 1, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "DROSHA", "kind": "SNV / small indel", "gene": "DROSHA", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.92, "altered": 6, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "observed", "frequency": 2.63, "altered": 1, "tested": 38, "note": null}]}, {"label": "DGCR8", "kind": "SNV / small indel", "gene": "DGCR8", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.46, "altered": 3, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "DICER1", "kind": "SNV / small indel", "gene": "DICER1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.15, "altered": 1, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "observed", "frequency": 2.63, "altered": 1, "tested": 38, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 2.3, "altered": 15, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "observed", "frequency": 34.21, "altered": 13, "tested": 38, "note": null}]}, {"label": "MYCN", "kind": "SNV / small indel", "gene": "MYCN", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "MYCN", "kind": "amplification", "gene": "MYCN", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 12.9, "altered": 16, "tested": 124, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "wt_target_gdc", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "HLA-DQB1", "kind": "SNV / small indel", "gene": "HLA-DQB1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 1.07, "altered": 7, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "CDK11A", "kind": "SNV / small indel", "gene": "CDK11A", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.92, "altered": 6, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "TMPRSS13", "kind": "SNV / small indel", "gene": "TMPRSS13", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.61, "altered": 4, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "MAP3K4", "kind": "SNV / small indel", "gene": "MAP3K4", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.61, "altered": 4, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "ADCK5", "kind": "SNV / small indel", "gene": "ADCK5", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.61, "altered": 4, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "ADCK5", "kind": "deep deletion", "gene": "ADCK5", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 2.42, "altered": 3, "tested": 124, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "wt_target_gdc", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "MADCAM1", "kind": "SNV / small indel", "gene": "MADCAM1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.46, "altered": 3, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "AGRN", "kind": "SNV / small indel", "gene": "AGRN", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.46, "altered": 3, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "ACTB", "kind": "SNV / small indel", "gene": "ACTB", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.46, "altered": 3, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "observed", "frequency": 2.63, "altered": 1, "tested": 38, "note": null}]}, {"label": "USP36", "kind": "SNV / small indel", "gene": "USP36", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "SPTBN4", "kind": "SNV / small indel", "gene": "SPTBN4", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "SPTBN4", "kind": "amplification", "gene": "SPTBN4", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 2.42, "altered": 3, "tested": 124, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "wt_target_gdc", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "SLC75A1", "kind": "SNV / small indel", "gene": "SLC75A1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "observed", "frequency": 2.63, "altered": 1, "tested": 38, "note": null}]}, {"label": "SLC75A1", "kind": "amplification", "gene": "SLC75A1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 8.87, "altered": 11, "tested": 124, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "wt_target_gdc", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "SLC22A1", "kind": "SNV / small indel", "gene": "SLC22A1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "SALL1", "kind": "SNV / small indel", "gene": "SALL1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "PRUNE2", "kind": "SNV / small indel", "gene": "PRUNE2", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "POLR1G", "kind": "SNV / small indel", "gene": "POLR1G", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "PHLDA1", "kind": "SNV / small indel", "gene": "PHLDA1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "PHF2", "kind": "SNV / small indel", "gene": "PHF2", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "PARD3", "kind": "SNV / small indel", "gene": "PARD3", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "PALM2AKAP2", "kind": "SNV / small indel", "gene": "PALM2AKAP2", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "NPC1", "kind": "SNV / small indel", "gene": "NPC1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "NEFH", "kind": "SNV / small indel", "gene": "NEFH", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "NCOR2", "kind": "SNV / small indel", "gene": "NCOR2", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "MAX", "kind": "SNV / small indel", "gene": "MAX", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "KRTAP10-7", "kind": "SNV / small indel", "gene": "KRTAP10-7", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "KRI1", "kind": "SNV / small indel", "gene": "KRI1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "IRF5", "kind": "SNV / small indel", "gene": "IRF5", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "IRF5", "kind": "amplification", "gene": "IRF5", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 2.42, "altered": 3, "tested": 124, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "wt_target_gdc", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "HSD17B4", "kind": "SNV / small indel", "gene": "HSD17B4", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "HLA-DRB1", "kind": "SNV / small indel", "gene": "HLA-DRB1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "HLA-DRB1", "kind": "amplification", "gene": "HLA-DRB1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 4.84, "altered": 6, "tested": 124, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "wt_target_gdc", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "HLA-DRB1", "kind": "deep deletion", "gene": "HLA-DRB1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 4.03, "altered": 5, "tested": 124, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "wt_target_gdc", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "GPRIN1", "kind": "SNV / small indel", "gene": "GPRIN1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "GIGYF2", "kind": "SNV / small indel", "gene": "GIGYF2", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "FMN2", "kind": "SNV / small indel", "gene": "FMN2", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "FMN2", "kind": "amplification", "gene": "FMN2", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 4.03, "altered": 5, "tested": 124, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "wt_target_gdc", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "FGFR1", "kind": "SNV / small indel", "gene": "FGFR1", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}, {"label": "FAM50A", "kind": "SNV / small indel", "gene": "FAM50A", "cells": [{"cohort": "wt_target_2018_pub", "status": "observed", "frequency": 0.31, "altered": 2, "tested": 652, "note": null}, {"cohort": "wt_target_gdc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 38, "note": null}]}]}