{"disease": {"name": "Cervical cancer", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "cesc"}, "updated_at": "2026-09-18", "genome_builds": ["hg19"], "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": "PIK3CA", "alteration_types": ["SNV / small indel", "amplification"], "altered": 83, "tested": 291, "frequency": 28.52, "cohort_count": 2, "frequency_range": {"min": 24.86, "max": 28.52}, "major_variants": ["E545K (n=37)", "E542K (n=23)", "E726K (n=6)", "H1047R (n=2)", "E453K (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 83/291 patients (28.52%).", "Without the 10 hypermutated patients: 76/281 (27.05%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 83, "tested": 291, "frequency": 28.52, "frequency_excl_hypermutated": 27.05, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 44, "tested": 177, "frequency": 24.86, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 82.87, "width": 12.2, "reference": 95.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 83, "tested": 291, "frequency": 28.52, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TP53", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 23, "tested": 291, "frequency": 7.9, "cohort_count": 2, "frequency_range": {"min": 7.9, "max": 11.3}, "major_variants": ["E285K (n=3)", "R282W (n=1)", "R333C (n=1)", "R196* (n=1)", "S376C (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 23/291 patients (7.9%).", "Without the 10 hypermutated patients: 20/281 (7.12%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 23, "tested": 291, "frequency": 7.9, "frequency_excl_hypermutated": 7.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 20, "tested": 177, "frequency": 11.3, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 26.33, "width": 11.34, "reference": 26.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 23, "tested": 291, "frequency": 7.9, "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": "CD274", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 291, "frequency": 0.69, "cohort_count": 2, "frequency_range": {"min": 0.69, "max": 1.13}, "major_variants": ["W167C (n=1)", "K280N (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 2/291 patients (0.69%).", "Without the 10 hypermutated patients: 1/281 (0.36%).", "Largest alteration is amplification: 5/293 (1.71%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 291, "frequency": 0.69, "frequency_excl_hypermutated": 0.36, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 2, "tested": 177, "frequency": 1.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.7, "width": 1.0, "reference": 5.7, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 5, "tested": 293, "frequency": 1.71, "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": "PDCD1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 2, "tested": 291, "frequency": 0.69, "cohort_count": 2, "frequency_range": {"min": 0.69, "max": 1.13}, "major_variants": ["G270S (n=1)", "G119S (n=1)", "E136Q (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 2/291 patients (0.69%).", "Without the 10 hypermutated patients: 1/281 (0.36%).", "Largest alteration is deep deletion: 10/293 (3.41%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 291, "frequency": 0.69, "frequency_excl_hypermutated": 0.36, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 2, "tested": 177, "frequency": 1.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.37, "width": 1.0, "reference": 11.37, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 10, "tested": 293, "frequency": 3.41, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ERBB2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 13, "tested": 291, "frequency": 4.47, "cohort_count": 2, "frequency_range": {"min": 4.47, "max": 10.73}, "major_variants": ["S310F (n=4)", "S250Y (n=1)", "S974F (n=1)", "P1033Qfs*27 (n=1)", "E1079K (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 13/291 patients (4.47%).", "Without the 10 hypermutated patients: 10/281 (3.56%).", "Largest alteration is amplification: 16/293 (5.46%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 13, "tested": 291, "frequency": 4.47, "frequency_excl_hypermutated": 3.56, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 19, "tested": 177, "frequency": 10.73, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 18.2, "width": 1.0, "reference": 18.2, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 16, "tested": 293, "frequency": 5.46, "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": "KRAS", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 15, "tested": 291, "frequency": 5.15, "cohort_count": 2, "frequency_range": {"min": 5.15, "max": 11.86}, "major_variants": ["G12D (n=4)", "G13D (n=4)", "A146T (n=2)", "G12C (n=2)", "G12V (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 15/291 patients (5.15%).", "Without the 10 hypermutated patients: 15/281 (5.34%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 15, "tested": 291, "frequency": 5.15, "frequency_excl_hypermutated": 5.34, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 21, "tested": 177, "frequency": 11.86, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.17, "width": 22.36, "reference": 17.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 15, "tested": 291, "frequency": 5.15, "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": "PTEN", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 21, "tested": 291, "frequency": 7.22, "cohort_count": 2, "frequency_range": {"min": 5.65, "max": 7.22}, "major_variants": ["R130Q (n=2)", "R130* (n=2)", "R173C (n=1)", "F341V (n=1)", "R142W (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 21/291 patients (7.22%).", "Without the 10 hypermutated patients: 18/281 (6.41%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 21, "tested": 291, "frequency": 7.22, "frequency_excl_hypermutated": 6.41, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 10, "tested": 177, "frequency": 5.65, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 18.83, "width": 5.24, "reference": 24.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 291, "frequency": 7.22, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FBXW7", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 35, "tested": 291, "frequency": 12.03, "cohort_count": 2, "frequency_range": {"min": 8.47, "max": 12.03}, "major_variants": ["R505G (n=4)", "R465C (n=3)", "R224* (n=2)", "R658* (n=2)", "R465H (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 35/291 patients (12.03%).", "Without the 10 hypermutated patients: 31/281 (11.03%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 35, "tested": 291, "frequency": 12.03, "frequency_excl_hypermutated": 11.03, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 15, "tested": 177, "frequency": 8.47, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 28.23, "width": 11.87, "reference": 40.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 35, "tested": 291, "frequency": 12.03, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EGFR", "alteration_types": ["SNV / small indel", "amplification"], "altered": 7, "tested": 291, "frequency": 2.41, "cohort_count": 2, "frequency_range": {"min": 1.13, "max": 2.41}, "major_variants": ["C329Y (n=1)", "L90I (n=1)", "S811C (n=1)", "I789M (n=1)", "V1097I (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 7/291 patients (2.41%).", "Without the 10 hypermutated patients: 4/281 (1.42%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 7, "tested": 291, "frequency": 2.41, "frequency_excl_hypermutated": 1.42, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 2, "tested": 177, "frequency": 1.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.77, "width": 4.26, "reference": 8.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 291, "frequency": 2.41, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TACSTD2", "alteration_types": ["amplification"], "altered": 0, "tested": 291, "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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 0/291 patients (0.0%).", "Without the 10 hypermutated patients: 0/281 (0.0%).", "Largest alteration is amplification: 5/293 (1.71%) in the reference cohort's copy-number profile.", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 0, "tested": 291, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.7, "width": 1.0, "reference": 5.7, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 5, "tested": 293, "frequency": 1.71, "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": "TERT", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 4, "tested": 291, "frequency": 1.37, "cohort_count": 2, "frequency_range": {"min": 1.13, "max": 1.37}, "major_variants": ["R521H (n=1)", "P627H (n=1)", "R489K (n=1)", "A518V (n=1)", "L350V (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 4/291 patients (1.37%).", "Without the 10 hypermutated patients: 3/281 (1.07%).", "Largest alteration is amplification: 19/293 (6.48%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 291, "frequency": 1.37, "frequency_excl_hypermutated": 1.07, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 2, "tested": 177, "frequency": 1.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.6, "width": 1.0, "reference": 21.6, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 19, "tested": 293, "frequency": 6.48, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CDKN2A", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 5, "tested": 291, "frequency": 1.72, "cohort_count": 2, "frequency_range": {"min": 1.72, "max": 2.26}, "major_variants": ["A132V (n=1)", "D146G (n=1)", "X153_splice (n=1)", "E88K (n=1)", "L31R (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 5/291 patients (1.72%).", "Without the 10 hypermutated patients: 4/281 (1.42%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 5, "tested": 291, "frequency": 1.72, "frequency_excl_hypermutated": 1.42, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 4, "tested": 177, "frequency": 2.26, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.73, "width": 1.8, "reference": 5.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 291, "frequency": 1.72, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2C", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 54, "tested": 291, "frequency": 18.56, "cohort_count": 2, "frequency_range": {"min": 10.73, "max": 18.56}, "major_variants": ["W430* (n=2)", "Q2220* (n=2)", "Q2161* (n=2)", "R4597H (n=1)", "G2136V (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 54/291 patients (18.56%).", "Without the 10 hypermutated patients: 46/281 (16.37%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 54, "tested": 291, "frequency": 18.56, "frequency_excl_hypermutated": 16.37, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 19, "tested": 177, "frequency": 10.73, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 35.77, "width": 26.1, "reference": 61.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 54, "tested": 291, "frequency": 18.56, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2D", "alteration_types": ["SNV / small indel"], "altered": 41, "tested": 291, "frequency": 14.09, "cohort_count": 2, "frequency_range": {"min": 13.56, "max": 14.09}, "major_variants": ["R4904* (n=1)", "R5533W (n=1)", "R5229H (n=1)", "L2398V (n=1)", "Q3580* (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 41/291 patients (14.09%).", "Without the 10 hypermutated patients: 36/281 (12.81%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 41, "tested": 291, "frequency": 14.09, "frequency_excl_hypermutated": 12.81, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 24, "tested": 177, "frequency": 13.56, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 45.2, "width": 1.77, "reference": 46.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 41, "tested": 291, "frequency": 14.09, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EP300", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 35, "tested": 291, "frequency": 12.03, "cohort_count": 2, "frequency_range": {"min": 3.39, "max": 12.03}, "major_variants": ["D1399N (n=4)", "S281* (n=2)", "W1436R (n=2)", "G201E (n=1)", "R2308C (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 35/291 patients (12.03%).", "Without the 10 hypermutated patients: 31/281 (11.03%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 35, "tested": 291, "frequency": 12.03, "frequency_excl_hypermutated": 11.03, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 6, "tested": 177, "frequency": 3.39, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.3, "width": 28.8, "reference": 40.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 35, "tested": 291, "frequency": 12.03, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "HUWE1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 28, "tested": 291, "frequency": 9.62, "cohort_count": 1, "frequency_range": {"min": 9.62, "max": 9.62}, "major_variants": ["S661I (n=1)", "C955R (n=1)", "S3277L (n=1)", "S2527Y (n=1)", "X216_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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 28/291 patients (9.62%).", "Without the 10 hypermutated patients: 23/281 (8.19%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 28, "tested": 291, "frequency": 9.62, "frequency_excl_hypermutated": 8.19, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 32.07, "width": 1.0, "reference": 32.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 28, "tested": 291, "frequency": 9.62, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NAV3", "alteration_types": ["SNV / small indel"], "altered": 24, "tested": 291, "frequency": 8.25, "cohort_count": 1, "frequency_range": {"min": 8.25, "max": 8.25}, "major_variants": ["K1051Sfs*23 (n=1)", "G1031Dfs*43 (n=1)", "D1692N (n=1)", "P449S (n=1)", "E943K (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 24/291 patients (8.25%).", "Without the 10 hypermutated patients: 19/281 (6.76%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 24, "tested": 291, "frequency": 8.25, "frequency_excl_hypermutated": 6.76, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 27.5, "width": 1.0, "reference": 27.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 24, "tested": 291, "frequency": 8.25, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MDN1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 23, "tested": 291, "frequency": 7.9, "cohort_count": 1, "frequency_range": {"min": 7.9, "max": 7.9}, "major_variants": ["R1257C (n=1)", "Q4328* (n=1)", "L916I (n=1)", "A5388D (n=1)", "R873Q (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 23/291 patients (7.9%).", "Without the 10 hypermutated patients: 16/281 (5.69%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 23, "tested": 291, "frequency": 7.9, "frequency_excl_hypermutated": 5.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 26.33, "width": 1.0, "reference": 26.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 23, "tested": 291, "frequency": 7.9, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FAT1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 23, "tested": 291, "frequency": 7.9, "cohort_count": 2, "frequency_range": {"min": 6.78, "max": 7.9}, "major_variants": ["T180I (n=1)", "G407E (n=1)", "S541* (n=1)", "H2508Qfs*27 (n=1)", "S4557Y (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 23/291 patients (7.9%).", "Without the 10 hypermutated patients: 21/281 (7.47%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 23, "tested": 291, "frequency": 7.9, "frequency_excl_hypermutated": 7.47, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 12, "tested": 177, "frequency": 6.78, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 22.6, "width": 3.73, "reference": 26.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 23, "tested": 291, "frequency": 7.9, "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": "EYS", "alteration_types": ["SNV / small indel", "amplification"], "altered": 23, "tested": 291, "frequency": 7.9, "cohort_count": 1, "frequency_range": {"min": 7.9, "max": 7.9}, "major_variants": ["L1641* (n=1)", "F767V (n=1)", "E743K (n=1)", "E1482Q (n=1)", "S1648T (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 23/291 patients (7.9%).", "Without the 10 hypermutated patients: 18/281 (6.41%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 23, "tested": 291, "frequency": 7.9, "frequency_excl_hypermutated": 6.41, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 26.33, "width": 1.0, "reference": 26.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 23, "tested": 291, "frequency": 7.9, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CREBBP", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 22, "tested": 291, "frequency": 7.56, "cohort_count": 2, "frequency_range": {"min": 2.82, "max": 7.56}, "major_variants": ["R1985C (n=1)", "P2094L (n=1)", "P225L (n=1)", "P1488R (n=1)", "S1680del (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 22/291 patients (7.56%).", "Without the 10 hypermutated patients: 16/281 (5.69%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 22, "tested": 291, "frequency": 7.56, "frequency_excl_hypermutated": 5.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 5, "tested": 177, "frequency": 2.82, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.4, "width": 15.8, "reference": 25.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 22, "tested": 291, "frequency": 7.56, "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": "PRKDC", "alteration_types": ["SNV / small indel", "amplification"], "altered": 21, "tested": 291, "frequency": 7.22, "cohort_count": 1, "frequency_range": {"min": 7.22, "max": 7.22}, "major_variants": ["Q3568E (n=2)", "A1947T (n=1)", "Q1048H (n=1)", "M3449T (n=1)", "A3729T (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 21/291 patients (7.22%).", "Without the 10 hypermutated patients: 16/281 (5.69%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 21, "tested": 291, "frequency": 7.22, "frequency_excl_hypermutated": 5.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 24.07, "width": 1.0, "reference": 24.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 291, "frequency": 7.22, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "UBR4", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 20, "tested": 291, "frequency": 6.87, "cohort_count": 1, "frequency_range": {"min": 6.87, "max": 6.87}, "major_variants": ["Y3302H (n=1)", "S1737C (n=1)", "P4371L (n=1)", "E645Q (n=1)", "H4698Y (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 20/291 patients (6.87%).", "Without the 10 hypermutated patients: 17/281 (6.05%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 20, "tested": 291, "frequency": 6.87, "frequency_excl_hypermutated": 6.05, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 22.9, "width": 1.0, "reference": 22.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 291, "frequency": 6.87, "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": "NIPBL", "alteration_types": ["SNV / small indel", "amplification"], "altered": 20, "tested": 291, "frequency": 6.87, "cohort_count": 1, "frequency_range": {"min": 6.87, "max": 6.87}, "major_variants": ["V1424Cfs*6 (n=2)", "R1372Q (n=1)", "P2630L (n=1)", "E1635V (n=1)", "K1341* (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 20/291 patients (6.87%).", "Without the 10 hypermutated patients: 16/281 (5.69%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 20, "tested": 291, "frequency": 6.87, "frequency_excl_hypermutated": 5.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 22.9, "width": 1.0, "reference": 22.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 291, "frequency": 6.87, "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": "FRAS1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 20, "tested": 291, "frequency": 6.87, "cohort_count": 1, "frequency_range": {"min": 6.87, "max": 6.87}, "major_variants": ["T1322I (n=1)", "A11T (n=1)", "E3555Q (n=1)", "D2002N (n=1)", "R3070T (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 20/291 patients (6.87%).", "Without the 10 hypermutated patients: 17/281 (6.05%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 20, "tested": 291, "frequency": 6.87, "frequency_excl_hypermutated": 6.05, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 22.9, "width": 1.0, "reference": 22.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 291, "frequency": 6.87, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "RB1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 19, "tested": 291, "frequency": 6.53, "cohort_count": 2, "frequency_range": {"min": 5.08, "max": 6.53}, "major_variants": ["R418Sfs*9 (n=1)", "G836C (n=1)", "W563S (n=1)", "X500_splice (n=1)", "G449V (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 19/291 patients (6.53%).", "Without the 10 hypermutated patients: 17/281 (6.05%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 19, "tested": 291, "frequency": 6.53, "frequency_excl_hypermutated": 6.05, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 9, "tested": 177, "frequency": 5.08, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.93, "width": 4.84, "reference": 21.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 291, "frequency": 6.53, "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": "NOTCH1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 19, "tested": 291, "frequency": 6.53, "cohort_count": 2, "frequency_range": {"min": 2.82, "max": 6.53}, "major_variants": ["S2467L (n=1)", "E569K (n=1)", "G1250S (n=1)", "N982S (n=1)", "H2018Lfs*9 (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 19/291 patients (6.53%).", "Without the 10 hypermutated patients: 16/281 (5.69%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 19, "tested": 291, "frequency": 6.53, "frequency_excl_hypermutated": 5.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 5, "tested": 177, "frequency": 2.82, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.4, "width": 12.37, "reference": 21.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 291, "frequency": 6.53, "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": "MKI67", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 19, "tested": 291, "frequency": 6.53, "cohort_count": 1, "frequency_range": {"min": 6.53, "max": 6.53}, "major_variants": ["V729A (n=1)", "A1826D (n=1)", "S94P (n=1)", "P1112S (n=1)", "A3210V (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG 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"assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.77, "width": 1.0, "reference": 21.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 291, "frequency": 6.53, "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": "CHD7", "alteration_types": ["SNV / small indel", "amplification"], "altered": 19, "tested": 291, "frequency": 6.53, "cohort_count": 1, "frequency_range": {"min": 6.53, "max": 6.53}, "major_variants": ["D1755G (n=1)", "P1705S (n=1)", "R459H (n=1)", "R2027* (n=1)", "R2303T (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 19/291 patients (6.53%).", "Without the 10 hypermutated patients: 15/281 (5.34%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer 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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": "BSN", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 19, "tested": 291, "frequency": 6.53, "cohort_count": 1, "frequency_range": {"min": 6.53, "max": 6.53}, "major_variants": ["A3430T (n=1)", "A2565T (n=1)", "V2701I (n=1)", "D2642N (n=1)", "E2590K (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 19/291 patients (6.53%).", "Without the 10 hypermutated patients: 12/281 (4.27%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 19, "tested": 291, "frequency": 6.53, "frequency_excl_hypermutated": 4.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.77, "width": 1.0, "reference": 21.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 291, "frequency": 6.53, "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": "VPS13B", "alteration_types": ["SNV / small indel", "amplification"], "altered": 18, "tested": 291, "frequency": 6.19, "cohort_count": 1, "frequency_range": {"min": 6.19, "max": 6.19}, "major_variants": ["R1462C (n=1)", "D1593G (n=1)", "F1430L (n=1)", "D361N (n=1)", "Q331* (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware 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"headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 291, "frequency": 6.19, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TAF1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 18, "tested": 291, "frequency": 6.19, "cohort_count": 1, "frequency_range": {"min": 6.19, "max": 6.19}, "major_variants": ["R996C (n=2)", "K1412N (n=1)", "R997H (n=1)", "N483K (n=1)", "I1270M (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 18/291 patients (6.19%).", "Without the 10 hypermutated patients: 13/281 (4.63%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 18, "tested": 291, "frequency": 6.19, "frequency_excl_hypermutated": 4.63, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.63, "width": 1.0, "reference": 20.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 291, "frequency": 6.19, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PKD1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 18, "tested": 291, "frequency": 6.19, "cohort_count": 1, "frequency_range": {"min": 6.19, "max": 6.19}, "major_variants": ["V1687M (n=1)", "R3115W (n=1)", "S2715N (n=1)", "T3134A (n=1)", "L544I (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 18/291 patients (6.19%).", "Without the 10 hypermutated patients: 13/281 (4.63%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 18, "tested": 291, "frequency": 6.19, "frequency_excl_hypermutated": 4.63, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.63, "width": 1.0, "reference": 20.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 291, "frequency": 6.19, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NSD1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 18, "tested": 291, "frequency": 6.19, "cohort_count": 2, "frequency_range": {"min": 2.82, "max": 6.19}, "major_variants": ["S1679* (n=2)", "R1471* (n=1)", "R2199C (n=1)", "F1711S (n=1)", "Y905C (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 18/291 patients (6.19%).", "Without the 10 hypermutated patients: 14/281 (4.98%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 18, "tested": 291, "frequency": 6.19, "frequency_excl_hypermutated": 4.98, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 5, "tested": 177, "frequency": 2.82, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.4, "width": 11.23, "reference": 20.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 291, "frequency": 6.19, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "GOLGB1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 18, "tested": 291, "frequency": 6.19, "cohort_count": 1, "frequency_range": {"min": 6.19, "max": 6.19}, "major_variants": ["A3102V (n=1)", "L1618V (n=1)", "H2802D (n=1)", "E2853Q (n=1)", "D2436H (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 18/291 patients (6.19%).", "Without the 10 hypermutated patients: 11/281 (3.91%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 18, "tested": 291, "frequency": 6.19, "frequency_excl_hypermutated": 3.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.63, "width": 1.0, "reference": 20.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 291, "frequency": 6.19, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ABCA12", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 18, "tested": 291, "frequency": 6.19, "cohort_count": 1, "frequency_range": {"min": 6.19, "max": 6.19}, "major_variants": ["N752D (n=1)", "R1912H (n=1)", "P700S (n=1)", "Y1150* (n=1)", "S2118L (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 18/291 patients (6.19%).", "Without the 10 hypermutated patients: 14/281 (4.98%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 18, "tested": 291, "frequency": 6.19, "frequency_excl_hypermutated": 4.98, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.63, "width": 1.0, "reference": 20.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 291, "frequency": 6.19, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "WDFY4", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 17, "tested": 291, "frequency": 5.84, "cohort_count": 1, "frequency_range": {"min": 5.84, "max": 5.84}, "major_variants": ["E332K (n=1)", "D2664N (n=1)", "S1957Y (n=1)", "Y1032H (n=1)", "Y1392C (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 17/291 patients (5.84%).", "Without the 10 hypermutated patients: 12/281 (4.27%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 17, "tested": 291, "frequency": 5.84, "frequency_excl_hypermutated": 4.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.47, "width": 1.0, "reference": 19.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 291, "frequency": 5.84, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TG", "alteration_types": ["SNV / small indel", "amplification"], "altered": 17, "tested": 291, "frequency": 5.84, "cohort_count": 1, "frequency_range": {"min": 5.84, "max": 5.84}, "major_variants": ["Q515R (n=1)", "Q829H (n=1)", "E2240Q (n=1)", "R2489H (n=1)", "G1195R (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 17/291 patients (5.84%).", "Without the 10 hypermutated patients: 14/281 (4.98%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 17, "tested": 291, "frequency": 5.84, "frequency_excl_hypermutated": 4.98, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.47, "width": 1.0, "reference": 19.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 291, "frequency": 5.84, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SRCAP", "alteration_types": ["SNV / small indel"], "altered": 17, "tested": 291, "frequency": 5.84, "cohort_count": 1, "frequency_range": {"min": 5.84, "max": 5.84}, "major_variants": ["R940Q (n=1)", "R1025* (n=1)", "R2721Q (n=1)", "R2398H (n=1)", "S351C (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 17/291 patients (5.84%).", "Without the 10 hypermutated patients: 13/281 (4.63%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 17, "tested": 291, "frequency": 5.84, "frequency_excl_hypermutated": 4.63, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.47, "width": 1.0, "reference": 19.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 291, "frequency": 5.84, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SPEN", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 17, "tested": 291, "frequency": 5.84, "cohort_count": 2, "frequency_range": {"min": 3.95, "max": 5.84}, "major_variants": ["R1137C (n=1)", "T3048M (n=1)", "E2183K (n=1)", "S1109* (n=1)", "Q3304E (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 17/291 patients (5.84%).", "Without the 10 hypermutated patients: 11/281 (3.91%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 17, "tested": 291, "frequency": 5.84, "frequency_excl_hypermutated": 3.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": 7, "tested": 177, "frequency": 3.95, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.17, "width": 6.3, "reference": 19.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 291, "frequency": 5.84, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SMG1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 17, "tested": 291, "frequency": 5.84, "cohort_count": 1, "frequency_range": {"min": 5.84, "max": 5.84}, "major_variants": ["X1412_splice (n=1)", "R903H (n=1)", "S1907F (n=1)", "S3184Y (n=1)", "H2754N (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 17/291 patients (5.84%).", "Without the 10 hypermutated patients: 15/281 (5.34%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 17, "tested": 291, "frequency": 5.84, "frequency_excl_hypermutated": 5.34, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.47, "width": 1.0, "reference": 19.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 291, "frequency": 5.84, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MYH15", "alteration_types": ["SNV / small indel", "amplification"], "altered": 17, "tested": 291, "frequency": 5.84, "cohort_count": 1, "frequency_range": {"min": 5.84, "max": 5.84}, "major_variants": ["A660V (n=1)", "E876D (n=1)", "S254P (n=1)", "K1105* (n=1)", "E1796K (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 17/291 patients (5.84%).", "Without the 10 hypermutated patients: 10/281 (3.56%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 17, "tested": 291, "frequency": 5.84, "frequency_excl_hypermutated": 3.56, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.47, "width": 1.0, "reference": 19.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 291, "frequency": 5.84, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "HSPG2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 17, "tested": 291, "frequency": 5.84, "cohort_count": 1, "frequency_range": {"min": 5.84, "max": 5.84}, "major_variants": ["R4174H (n=1)", "R1716W (n=1)", "R624H (n=1)", "G2775D (n=1)", "G2775S (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 17/291 patients (5.84%).", "Without the 10 hypermutated patients: 12/281 (4.27%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 17, "tested": 291, "frequency": 5.84, "frequency_excl_hypermutated": 4.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "177/177", "coverage_note": null, "source_id": "cervix_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.47, "width": 1.0, "reference": 19.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 291, "frequency": 5.84, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FLNA", "alteration_types": ["SNV / small indel", "amplification"], "altered": 17, "tested": 291, "frequency": 5.84, "cohort_count": 1, "frequency_range": {"min": 5.84, "max": 5.84}, "major_variants": ["A1205V (n=1)", "A2274V (n=1)", "A1141T (n=1)", "A1082V (n=1)", "R1272C (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 · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 17/291 patients (5.84%).", "Without the 10 hypermutated patients: 14/281 (4.98%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "cohort_name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 17, "tested": 291, "frequency": 5.84, "frequency_excl_hypermutated": 4.98, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "291/297", "coverage_note": null, "source_id": "cesc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "cervix_msk_2023", "cohort_name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's 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"percent", "cohorts": ["cesc_tcga_pan_can_atlas_2018"], "source_ids": ["cesc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "RB1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "RB1 deep deletion", "genomic_coordinate": null, "observed": 9, "observed_status": "observed", "observed_unit": "patients", "tested": 293, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.07, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["cesc_tcga_pan_can_atlas_2018"], "source_ids": ["cesc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FLNA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "FLNA amplification", "genomic_coordinate": null, "observed": 9, "observed_status": "observed", "observed_unit": "patients", "tested": 293, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.07, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["cesc_tcga_pan_can_atlas_2018"], "source_ids": ["cesc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "COL6A3", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "COL6A3 deep deletion", "genomic_coordinate": null, "observed": 9, "observed_status": "observed", "observed_unit": "patients", "tested": 293, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.07, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["cesc_tcga_pan_can_atlas_2018"], "source_ids": ["cesc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "EGFR", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "EGFR amplification", "genomic_coordinate": null, "observed": 7, "observed_status": "observed", "observed_unit": "patients", "tested": 293, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.39, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["cesc_tcga_pan_can_atlas_2018"], "source_ids": ["cesc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TG", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "TG amplification", "genomic_coordinate": null, "observed": 7, "observed_status": "observed", "observed_unit": "patients", "tested": 293, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.39, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["cesc_tcga_pan_can_atlas_2018"], "source_ids": ["cesc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PIK3CA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PIK3CA amplification", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 177, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.26, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["cervix_msk_2023"], "source_ids": ["cervix_msk_2023_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ABCA12", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "ABCA12 deep deletion", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 293, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.05, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["cesc_tcga_pan_can_atlas_2018"], "source_ids": ["cesc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Copy number (discrete)", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Structural variant (present, not read)", "available_cohorts": 2, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source": "cBioPortal", "accession": "cesc_tcga_pan_can_atlas_2018", "patients": {"value": 291, "status": "observed", "unit": "patients"}, "samples": {"value": 291, "status": "observed", "unit": "samples"}, "disease_subtype": "Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (291)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 291, "patients_in_roster": 291, "frequencies_computed": true, "samples_sequenced": 291, "samples_in_study": 297, "hypermutated_patients": 10, "median_mutations_per_sample": 83, "reason": null}}, {"name": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "source": "cBioPortal", "accession": "cervix_msk_2023", "patients": {"value": 177, "status": "observed", "unit": "patients"}, "samples": {"value": 177, "status": "observed", "unit": "samples"}, "disease_subtype": "Cervical Cancer (MSK, Clin Cancer Res 2023)", "assay_type": "targeted panel", "sequencing_method": "IMPACT468 (130), IMPACT410 (33), IMPACT341 (14)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "panel genes only; per-gene denominators", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "cervix_msk_2023", "is_demo": false, "assay_coverage": {"patients_with_calls": 177, "patients_in_roster": 177, "frequencies_computed": true, "samples_sequenced": 177, "samples_in_study": 177, "hypermutated_patients": 0, "median_mutations_per_sample": 4, "reason": null}}], "sources": [{"source_name": "cBioPortal · Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=cesc_tcga_pan_can_atlas_2018", "source_record_id": "cesc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cervical Cancer (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=cervix_msk_2023", "source_record_id": "cervix_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "limitations": ["A cBioPortal public-API snapshot retrieved 2026-09-18; the page does not refresh source data at request time.", "Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.", "For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.", "Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.", "Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.", "Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.", "The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide."], "answer_block": ["In Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) (291 sequenced patients, exome or genome), the most frequently altered of the 48 genes shown are PIK3CA 28.52%, KMT2C 18.56%, KMT2D 14.09%, FBXW7 12.03%, EP300 12.03%. Each figure divides by the patients on whom that gene could be called.", "10 of 291 patients are hypermutated (more than 830 non-silent mutations, ten times the cohort median of 83); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 3 are altered in under 2% of this cohort (CD274, TACSTD2, CDKN2A): 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": "PIK3CA is mutated in 83 of 291 patients in Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas).", "numerator": 83, "denominator": 291, "frequency": 28.52, "cohorts": 2, "evidence_confidence": "moderate", "source": "cesc_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "KMT2C is mutated in 54 of 291 patients in Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas).", "numerator": 54, "denominator": 291, "frequency": 18.56, "cohorts": 2, "evidence_confidence": "moderate", "source": "cesc_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "KMT2D is mutated in 41 of 291 patients in Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas).", "numerator": 41, "denominator": 291, "frequency": 14.09, "cohorts": 2, "evidence_confidence": "moderate", "source": "cesc_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}], "research_gaps": [{"kind": "Structural variants", "text": "Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases."}, {"kind": "Context", "text": "Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four."}, {"kind": "Interpretation", "text": "Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts."}], "observations": [], "data_status": "PUBLIC SOURCE SNAPSHOT", "is_demo": false, "reference_cohort": "cesc_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 28.52, "altered": 83, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 24.86, "altered": 44, "tested": 177, "note": null}]}, {"label": "PIK3CA", "kind": "amplification", "gene": "PIK3CA", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 15.02, "altered": 44, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 2.26, "altered": 4, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.9, "altered": 23, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 11.3, "altered": 20, "tested": 177, "note": null}]}, {"label": "CD274", "kind": "SNV / small indel", "gene": "CD274", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.69, "altered": 2, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 1.13, "altered": 2, "tested": 177, "note": null}]}, {"label": "PDCD1", "kind": "SNV / small indel", "gene": "PDCD1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.69, "altered": 2, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 1.13, "altered": 2, "tested": 177, "note": null}]}, {"label": "PDCD1", "kind": "deep deletion", "gene": "PDCD1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.41, "altered": 10, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ERBB2", "kind": "SNV / small indel", "gene": "ERBB2", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.47, "altered": 13, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 10.73, "altered": 19, "tested": 177, "note": null}]}, {"label": "ERBB2", "kind": "amplification", "gene": "ERBB2", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.46, "altered": 16, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 3.95, "altered": 7, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KRAS", "kind": "SNV / small indel", "gene": "KRAS", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.15, "altered": 15, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 11.86, "altered": 21, "tested": 177, "note": null}]}, {"label": "PTEN", "kind": "SNV / small indel", "gene": "PTEN", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.22, "altered": 21, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 5.65, "altered": 10, "tested": 177, "note": null}]}, {"label": "PTEN", "kind": "deep deletion", "gene": "PTEN", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.78, "altered": 14, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 1.13, "altered": 2, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "FBXW7", "kind": "SNV / small indel", "gene": "FBXW7", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.03, "altered": 35, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 8.47, "altered": 15, "tested": 177, "note": null}]}, {"label": "EGFR", "kind": "SNV / small indel", "gene": "EGFR", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.41, "altered": 7, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 1.13, "altered": 2, "tested": 177, "note": null}]}, {"label": "EGFR", "kind": "amplification", "gene": "EGFR", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.39, "altered": 7, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TACSTD2", "kind": "SNV / small indel", "gene": "TACSTD2", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TERT", "kind": "SNV / small indel", "gene": "TERT", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.37, "altered": 4, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 1.13, "altered": 2, "tested": 177, "note": null}]}, {"label": "TERT", "kind": "amplification", "gene": "TERT", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.48, "altered": 19, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 0.56, "altered": 1, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CDKN2A", "kind": "SNV / small indel", "gene": "CDKN2A", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.72, "altered": 5, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 2.26, "altered": 4, "tested": 177, "note": null}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 18.56, "altered": 54, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 10.73, "altered": 19, "tested": 177, "note": null}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 14.09, "altered": 41, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 13.56, "altered": 24, "tested": 177, "note": null}]}, {"label": "EP300", "kind": "SNV / small indel", "gene": "EP300", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.03, "altered": 35, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 3.39, "altered": 6, "tested": 177, "note": null}]}, {"label": "HUWE1", "kind": "SNV / small indel", "gene": "HUWE1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.62, "altered": 28, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NAV3", "kind": "SNV / small indel", "gene": "NAV3", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.25, "altered": 24, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MDN1", "kind": "SNV / small indel", "gene": "MDN1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.9, "altered": 23, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FAT1", "kind": "SNV / small indel", "gene": "FAT1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.9, "altered": 23, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 6.78, "altered": 12, "tested": 177, "note": null}]}, {"label": "FAT1", "kind": "deep deletion", "gene": "FAT1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.41, "altered": 10, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 0.56, "altered": 1, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "EYS", "kind": "SNV / small indel", "gene": "EYS", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.9, "altered": 23, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CREBBP", "kind": "SNV / small indel", "gene": "CREBBP", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.56, "altered": 22, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 2.82, "altered": 5, "tested": 177, "note": null}]}, {"label": "PRKDC", "kind": "SNV / small indel", "gene": "PRKDC", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.22, "altered": 21, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "UBR4", "kind": "SNV / small indel", "gene": "UBR4", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.87, "altered": 20, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NIPBL", "kind": "SNV / small indel", "gene": "NIPBL", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.87, "altered": 20, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NIPBL", "kind": "amplification", "gene": "NIPBL", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.46, "altered": 16, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "FRAS1", "kind": "SNV / small indel", "gene": "FRAS1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.87, "altered": 20, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "RB1", "kind": "SNV / small indel", "gene": "RB1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.53, "altered": 19, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 5.08, "altered": 9, "tested": 177, "note": null}]}, {"label": "RB1", "kind": "deep deletion", "gene": "RB1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.07, "altered": 9, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "NOTCH1", "kind": "SNV / small indel", "gene": "NOTCH1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.53, "altered": 19, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 2.82, "altered": 5, "tested": 177, "note": null}]}, {"label": "MKI67", "kind": "SNV / small indel", "gene": "MKI67", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.53, "altered": 19, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CHD7", "kind": "SNV / small indel", "gene": "CHD7", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.53, "altered": 19, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "BSN", "kind": "SNV / small indel", "gene": "BSN", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.53, "altered": 19, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "VPS13B", "kind": "SNV / small indel", "gene": "VPS13B", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.19, "altered": 18, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TAF1", "kind": "SNV / small indel", "gene": "TAF1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.19, "altered": 18, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PKD1", "kind": "SNV / small indel", "gene": "PKD1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.19, "altered": 18, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NSD1", "kind": "SNV / small indel", "gene": "NSD1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.19, "altered": 18, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 2.82, "altered": 5, "tested": 177, "note": null}]}, {"label": "GOLGB1", "kind": "SNV / small indel", "gene": "GOLGB1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.19, "altered": 18, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "GOLGB1", "kind": "amplification", "gene": "GOLGB1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.46, "altered": 16, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ABCA12", "kind": "SNV / small indel", "gene": "ABCA12", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.19, "altered": 18, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ABCA12", "kind": "deep deletion", "gene": "ABCA12", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.05, "altered": 6, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "WDFY4", "kind": "SNV / small indel", "gene": "WDFY4", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.84, "altered": 17, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TG", "kind": "SNV / small indel", "gene": "TG", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.84, "altered": 17, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TG", "kind": "amplification", "gene": "TG", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.39, "altered": 7, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SRCAP", "kind": "SNV / small indel", "gene": "SRCAP", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.84, "altered": 17, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SPEN", "kind": "SNV / small indel", "gene": "SPEN", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.84, "altered": 17, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "observed", "frequency": 3.95, "altered": 7, "tested": 177, "note": null}]}, {"label": "SMG1", "kind": "SNV / small indel", "gene": "SMG1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.84, "altered": 17, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MYH15", "kind": "SNV / small indel", "gene": "MYH15", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.84, "altered": 17, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MYH15", "kind": "amplification", "gene": "MYH15", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.1, "altered": 12, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "HSPG2", "kind": "SNV / small indel", "gene": "HSPG2", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.84, "altered": 17, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FLNA", "kind": "SNV / small indel", "gene": "FLNA", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.84, "altered": 17, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FLNA", "kind": "amplification", "gene": "FLNA", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.07, "altered": 9, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "FAT2", "kind": "SNV / small indel", "gene": "FAT2", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.84, "altered": 17, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DYNC1H1", "kind": "SNV / small indel", "gene": "DYNC1H1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.84, "altered": 17, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DCHS1", "kind": "SNV / small indel", "gene": "DCHS1", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.84, "altered": 17, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "COL6A3", "kind": "SNV / small indel", "gene": "COL6A3", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.84, "altered": 17, "tested": 291, "note": null}, {"cohort": "cervix_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "COL6A3", "kind": "deep deletion", "gene": "COL6A3", "cells": [{"cohort": "cesc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.07, "altered": 9, "tested": 293, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "cervix_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 177, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}]}