{"disease": {"name": "Esophageal cancer", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "esca"}, "updated_at": "2026-09-18", "genome_builds": ["hg19"], "cohort_count": 3, "cohort_count_status": "observed", "cohort_count_unit": "cohorts", "evaluable_patients": null, "evaluable_patients_status": "unknown", "evaluable_patients_unit": "patients", "alteration_types": ["SNV", "small indel", "amplification", "deep deletion"], "genes": [{"gene": "TP53", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 158, "tested": 182, "frequency": 86.81, "cohort_count": 3, "frequency_range": {"min": 59.71, "max": 86.81}, "major_variants": ["R175H (n=10)", "R248Q (n=9)", "R248W (n=6)", "R273H (n=6)", "R282W (n=5)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 158/182 patients (86.81%).", "Without the 2 hypermutated patients: 158/180 (87.78%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 158, "tested": 182, "frequency": 86.81, "frequency_excl_hypermutated": 87.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 83, "tested": 139, "frequency": 59.71, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 224, "tested": 305, "frequency": 73.44, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 158, "tested": 182, "frequency": 86.81, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ERBB2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 11, "tested": 182, "frequency": 6.04, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 6.04}, "major_variants": ["V777L (n=2)", "S310F (n=2)", "A241V (n=1)", "M774dup (n=1)", "L662Q (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 11/182 patients (6.04%).", "Without the 2 hypermutated patients: 9/180 (5.0%).", "Largest alteration is amplification: 28/182 (15.38%) in the reference cohort's copy-number profile.", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 11, "tested": 182, "frequency": 6.04, "frequency_excl_hypermutated": 5.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 139, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 12, "tested": 305, "frequency": 3.93, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 51.27, "width": 1.0, "reference": 51.27, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 28, "tested": 182, "frequency": 15.38, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CD274", "alteration_types": ["amplification", "deep deletion"], "altered": 0, "tested": 182, "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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 0/182 patients (0.0%).", "Without the 2 hypermutated patients: 0/180 (0.0%).", "Largest alteration is deep deletion: 5/182 (2.75%) in the reference cohort's copy-number profile.", "Observed in 0 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 0, "tested": 182, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 0, "tested": 302, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.17, "width": 1.0, "reference": 9.17, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 5, "tested": 182, "frequency": 2.75, "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": "PDCD1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 1, "tested": 182, "frequency": 0.55, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 0.66}, "major_variants": ["T36Hfs*70 (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 1/182 patients (0.55%).", "Without the 2 hypermutated patients: 0/180 (0.0%).", "Largest alteration is deep deletion: 5/182 (2.75%) in the reference cohort's copy-number profile.", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 1, "tested": 182, "frequency": 0.55, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 2, "tested": 302, "frequency": 0.66, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.17, "width": 1.0, "reference": 9.17, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 5, "tested": 182, "frequency": 2.75, "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": 15, "tested": 182, "frequency": 8.24, "cohort_count": 3, "frequency_range": {"min": 2.88, "max": 11.15}, "major_variants": ["X153_splice (n=3)", "H83Y (n=2)", "G111Afs*8 (n=1)", "Y44* (n=1)", "P48L (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 15/182 patients (8.24%).", "Without the 2 hypermutated patients: 14/180 (7.78%).", "Largest alteration is deep deletion: 71/182 (39.01%) in the reference cohort's copy-number profile.", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 15, "tested": 182, "frequency": 8.24, "frequency_excl_hypermutated": 7.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 4, "tested": 139, "frequency": 2.88, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 34, "tested": 305, "frequency": 11.15, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 71, "tested": 182, "frequency": 39.01, "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": "NFE2L2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 18, "tested": 182, "frequency": 9.89, "cohort_count": 3, "frequency_range": {"min": 0.66, "max": 9.89}, "major_variants": ["E79Q (n=2)", "Y46H (n=1)", "E79G (n=1)", "L30F (n=1)", "E79K (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 18/182 patients (9.89%).", "Without the 2 hypermutated patients: 18/180 (10.0%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 18, "tested": 182, "frequency": 9.89, "frequency_excl_hypermutated": 10.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 8, "tested": 139, "frequency": 5.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 2, "tested": 305, "frequency": 0.66, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.2, "width": 30.77, "reference": 32.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 182, "frequency": 9.89, "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": "SOX2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 0, "tested": 182, "frequency": 0.0, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.33}, "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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 0/182 patients (0.0%).", "Without the 2 hypermutated patients: 0/180 (0.0%).", "Largest alteration is amplification: 30/182 (16.48%) in the reference cohort's copy-number profile.", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 0, "tested": 182, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 139, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 1, "tested": 305, "frequency": 0.33, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 54.93, "width": 1.0, "reference": 54.93, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 30, "tested": 182, "frequency": 16.48, "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": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EGFR", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 5, "tested": 182, "frequency": 2.75, "cohort_count": 3, "frequency_range": {"min": 0.72, "max": 2.75}, "major_variants": ["D314N (n=1)", "R574W (n=1)", "P373S (n=1)", "L1139F (n=1)", "G598E (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 5/182 patients (2.75%).", "Without the 2 hypermutated patients: 4/180 (2.22%).", "Largest alteration is amplification: 22/182 (12.09%) in the reference cohort's copy-number profile.", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 5, "tested": 182, "frequency": 2.75, "frequency_excl_hypermutated": 2.22, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 1, "tested": 139, "frequency": 0.72, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 3, "tested": 305, "frequency": 0.98, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 40.3, "width": 1.0, "reference": 40.3, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 22, "tested": 182, "frequency": 12.09, "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": "CCND1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 0, "tested": 182, "frequency": 0.0, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.33}, "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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 0/182 patients (0.0%).", "Without the 2 hypermutated patients: 0/180 (0.0%).", "Largest alteration is amplification: 63/182 (34.62%) in the reference cohort's copy-number profile.", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 0, "tested": 182, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 1, "tested": 305, "frequency": 0.33, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 63, "tested": 182, "frequency": 34.62, "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": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KRAS", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 182, "frequency": 1.1, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 9.18}, "major_variants": ["G12D (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 2/182 patients (1.1%).", "Without the 2 hypermutated patients: 2/180 (1.11%).", "Largest alteration is amplification: 13/182 (7.14%) in the reference cohort's copy-number profile.", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 182, "frequency": 1.1, "frequency_excl_hypermutated": 1.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 139, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 28, "tested": 305, "frequency": 9.18, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 23.8, "width": 1.0, "reference": 23.8, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 13, "tested": 182, "frequency": 7.14, "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": "SMAD4", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 12, "tested": 182, "frequency": 6.59, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 10.16}, "major_variants": ["R445* (n=2)", "R361H (n=1)", "R361C (n=1)", "W524L (n=1)", "G386V (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 12/182 patients (6.59%).", "Without the 2 hypermutated patients: 12/180 (6.67%).", "Largest alteration is deep deletion: 15/182 (8.24%) in the reference cohort's copy-number profile.", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 12, "tested": 182, "frequency": 6.59, "frequency_excl_hypermutated": 6.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 139, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 31, "tested": 305, "frequency": 10.16, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 27.47, "width": 1.0, "reference": 27.47, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 15, "tested": 182, "frequency": 8.24, "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": "CLDN18", "alteration_types": ["SNV / small indel", "amplification"], "altered": 1, "tested": 182, "frequency": 0.55, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.55}, "major_variants": ["Y66* (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 1/182 patients (0.55%).", "Without the 2 hypermutated patients: 1/180 (0.56%).", "Largest alteration is amplification: 12/182 (6.59%) in the reference cohort's copy-number profile.", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 1, "tested": 182, "frequency": 0.55, "frequency_excl_hypermutated": 0.56, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.97, "width": 1.0, "reference": 21.97, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 12, "tested": 182, "frequency": 6.59, "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": "KMT2D", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 21, "tested": 182, "frequency": 11.54, "cohort_count": 3, "frequency_range": {"min": 8.85, "max": 17.99}, "major_variants": ["Q4732* (n=1)", "E4731D (n=1)", "R598H (n=1)", "Q4329* (n=1)", "Q3742* (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 21/182 patients (11.54%).", "Without the 2 hypermutated patients: 20/180 (11.11%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 21, "tested": 182, "frequency": 11.54, "frequency_excl_hypermutated": 11.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 25, "tested": 139, "frequency": 17.99, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 27, "tested": 305, "frequency": 8.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 29.5, "width": 30.47, "reference": 38.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 182, "frequency": 11.54, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EYS", "alteration_types": ["SNV / small indel", "amplification"], "altered": 21, "tested": 182, "frequency": 11.54, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 11.54}, "major_variants": ["F53V (n=1)", "K1519N (n=1)", "L1666F (n=1)", "E422A (n=1)", "I256K (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 21/182 patients (11.54%).", "Without the 2 hypermutated patients: 20/180 (11.11%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 21, "tested": 182, "frequency": 11.54, "frequency_excl_hypermutated": 11.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 38.47, "reference": 38.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 182, "frequency": 11.54, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "UNC13C", "alteration_types": ["SNV / small indel"], "altered": 19, "tested": 182, "frequency": 10.44, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 10.44}, "major_variants": ["L1614M (n=1)", "L1329V (n=1)", "K1905T (n=1)", "I1418V (n=1)", "A2023G (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 19/182 patients (10.44%).", "Without the 2 hypermutated patients: 18/180 (10.0%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 19, "tested": 182, "frequency": 10.44, "frequency_excl_hypermutated": 10.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 34.8, "reference": 34.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 182, "frequency": 10.44, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PCDH15", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 19, "tested": 182, "frequency": 10.44, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 10.44}, "major_variants": ["P652H (n=2)", "L347P (n=1)", "K1508R (n=1)", "L347R (n=1)", "Q27H (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 19/182 patients (10.44%).", "Without the 2 hypermutated patients: 18/180 (10.0%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 19, "tested": 182, "frequency": 10.44, "frequency_excl_hypermutated": 10.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 34.8, "reference": 34.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 182, "frequency": 10.44, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "DYNC2H1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 19, "tested": 182, "frequency": 10.44, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 10.44}, "major_variants": ["L3038R (n=1)", "L3066R (n=1)", "I1727T (n=1)", "K1870T (n=1)", "V3597I (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 19/182 patients (10.44%).", "Without the 2 hypermutated patients: 18/180 (10.0%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 19, "tested": 182, "frequency": 10.44, "frequency_excl_hypermutated": 10.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 34.8, "reference": 34.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 182, "frequency": 10.44, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PIK3CA", "alteration_types": ["SNV / small indel", "amplification"], "altered": 17, "tested": 182, "frequency": 9.34, "cohort_count": 3, "frequency_range": {"min": 7.91, "max": 9.34}, "major_variants": ["E545K (n=6)", "H1047L (n=3)", "E726K (n=2)", "K111N (n=1)", "F909C (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 17/182 patients (9.34%).", "Without the 2 hypermutated patients: 17/180 (9.44%).", "Largest alteration is amplification: 32/182 (17.58%) in the reference cohort's copy-number profile.", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 17, "tested": 182, "frequency": 9.34, "frequency_excl_hypermutated": 9.44, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 11, "tested": 139, "frequency": 7.91, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 25, "tested": 305, "frequency": 8.2, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 58.6, "width": 1.0, "reference": 58.6, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 32, "tested": 182, "frequency": 17.58, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "LRRK2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 17, "tested": 182, "frequency": 9.34, "cohort_count": 2, "frequency_range": {"min": 2.88, "max": 9.34}, "major_variants": ["L325V (n=1)", "L744S (n=1)", "L2300F (n=1)", "E1156Q (n=1)", "L1776H (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 17/182 patients (9.34%).", "Without the 2 hypermutated patients: 16/180 (8.89%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 17, "tested": 182, "frequency": 9.34, "frequency_excl_hypermutated": 8.89, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 4, "tested": 139, "frequency": 2.88, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.6, "width": 21.53, "reference": 31.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 182, "frequency": 9.34, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "LAMA1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 17, "tested": 182, "frequency": 9.34, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 9.34}, "major_variants": ["R2772C (n=1)", "G1621S (n=1)", "N1253T (n=1)", "T1928P (n=1)", "V1269L (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 17/182 patients (9.34%).", "Without the 2 hypermutated patients: 15/180 (8.33%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 17, "tested": 182, "frequency": 9.34, "frequency_excl_hypermutated": 8.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 31.13, "reference": 31.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 182, "frequency": 9.34, "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": "DCDC1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 16, "tested": 182, "frequency": 8.79, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 8.79}, "major_variants": ["Q85H (n=1)", "K292M (n=1)", "A282S (n=1)", "A731S (n=1)", "K347R (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 16/182 patients (8.79%).", "Without the 2 hypermutated patients: 16/180 (8.89%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 16, "tested": 182, "frequency": 8.79, "frequency_excl_hypermutated": 8.89, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 29.3, "reference": 29.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 182, "frequency": 8.79, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NAV3", "alteration_types": ["SNV / small indel", "amplification"], "altered": 15, "tested": 182, "frequency": 8.24, "cohort_count": 2, "frequency_range": {"min": 5.04, "max": 8.24}, "major_variants": ["P251T (n=1)", "K558T (n=1)", "K1694N (n=1)", "V3L (n=1)", "L827P (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 15/182 patients (8.24%).", "Without the 2 hypermutated patients: 14/180 (7.78%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 15, "tested": 182, "frequency": 8.24, "frequency_excl_hypermutated": 7.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 7, "tested": 139, "frequency": 5.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.8, "width": 10.67, "reference": 27.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 15, "tested": 182, "frequency": 8.24, "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": "RIMS1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 14, "tested": 182, "frequency": 7.69, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 7.69}, "major_variants": ["W178R (n=1)", "K1437N (n=1)", "K1591R (n=1)", "K1590R (n=1)", "L1041R (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 14/182 patients (7.69%).", "Without the 2 hypermutated patients: 13/180 (7.22%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 14, "tested": 182, "frequency": 7.69, "frequency_excl_hypermutated": 7.22, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 25.63, "reference": 25.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 182, "frequency": 7.69, "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": "PTPRD", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 14, "tested": 182, "frequency": 7.69, "cohort_count": 3, "frequency_range": {"min": 2.88, "max": 7.69}, "major_variants": ["R1674H (n=1)", "S363C (n=1)", "T820I (n=1)", "L840I (n=1)", "E675G (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 14/182 patients (7.69%).", "Without the 2 hypermutated patients: 14/180 (7.78%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 14, "tested": 182, "frequency": 7.69, "frequency_excl_hypermutated": 7.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 4, "tested": 139, "frequency": 2.88, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 17, "tested": 305, "frequency": 5.57, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.6, "width": 16.03, "reference": 25.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 182, "frequency": 7.69, "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": 14, "tested": 182, "frequency": 7.69, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 7.69}, "major_variants": ["E2012K (n=1)", "E2009Q (n=1)", "L2509Ffs*4 (n=1)", "S3059F (n=1)", "X3798_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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 14/182 patients (7.69%).", "Without the 2 hypermutated patients: 12/180 (6.67%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 14, "tested": 182, "frequency": 7.69, "frequency_excl_hypermutated": 6.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, 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"source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 14/182 patients (7.69%).", "Without the 2 hypermutated patients: 14/180 (7.78%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 14, "tested": 182, "frequency": 7.69, "frequency_excl_hypermutated": 7.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 11, "tested": 139, "frequency": 7.91, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 15, "tested": 305, "frequency": 4.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.4, "width": 9.97, "reference": 25.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 182, "frequency": 7.69, "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": "IVL", "alteration_types": ["SNV / small indel", 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"https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 14/182 patients (7.69%).", "Without the 2 hypermutated patients: 12/180 (6.67%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 14, "tested": 182, "frequency": 7.69, "frequency_excl_hypermutated": 6.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, 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"https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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}], 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false}, {"source_name": "cBioPortal · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 14/182 patients (7.69%).", "Without the 2 hypermutated patients: 13/180 (7.22%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 14, "tested": 182, "frequency": 7.69, 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{"source_name": "cBioPortal · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 14/182 patients (7.69%).", "Without the 2 hypermutated patients: 13/180 (7.22%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 14, "tested": 182, "frequency": 7.69, "frequency_excl_hypermutated": 7.22, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 25.63, "reference": 25.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 182, "frequency": 7.69, "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": "COL6A5", "alteration_types": ["SNV / small indel", "amplification"], "altered": 14, "tested": 182, "frequency": 7.69, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 7.69}, "major_variants": ["H1000N (n=1)", "T2472P (n=1)", "G337R (n=1)", "R2471* (n=1)", "W2392C (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 · Esophageal Adenocarcinoma (TCGA, PanCancer 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published).", "is_demo": false}, {"source_name": "cBioPortal · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 14/182 patients (7.69%).", "Without the 2 hypermutated patients: 13/180 (7.22%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 14, "tested": 182, "frequency": 7.69, "frequency_excl_hypermutated": 7.22, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 25.63, "reference": 25.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 182, "frequency": 7.69, "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", "amplification", "deep deletion"], "altered": 13, "tested": 182, "frequency": 7.14, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 7.14}, "major_variants": ["F2041L (n=1)", "K320I (n=1)", "R3111Q (n=1)", "L718P (n=1)", "L2962H (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among 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false}, {"source_name": "cBioPortal · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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 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"patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 23.8, "reference": 23.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 182, "frequency": 7.14, "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": "TRRAP", "alteration_types": ["SNV / small indel", "amplification"], "altered": 13, "tested": 182, "frequency": 7.14, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 7.14}, "major_variants": ["E3477K (n=1)", "W3444C (n=1)", "A1923V (n=1)", "T654M (n=1)", "R2917C (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 · Esophageal Adenocarcinoma 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"esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 13, "tested": 182, "frequency": 7.14, "frequency_excl_hypermutated": 6.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 36.63, "width": 1.0, "reference": 36.63, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 20, "tested": 182, "frequency": 10.99, "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": "TENM4", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 13, "tested": 182, "frequency": 7.14, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 7.14}, "major_variants": ["R2662S (n=1)", "D1805N (n=1)", "R1832Q (n=1)", "R1371C (n=1)", "R1018H (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 13/182 patients (7.14%).", "Without the 2 hypermutated patients: 12/180 (6.67%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 13, "tested": 182, "frequency": 7.14, "frequency_excl_hypermutated": 6.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell 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"frequency": 7.14, "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": "SI", "alteration_types": ["SNV / small indel", "amplification"], "altered": 13, "tested": 182, "frequency": 7.14, "cohort_count": 2, "frequency_range": {"min": 6.47, "max": 7.14}, "major_variants": ["L1167V (n=1)", "G676Wfs*8 (n=1)", "G1199C (n=1)", "V1450G (n=1)", "F1616I (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 13/182 patients (7.14%).", "Without the 2 hypermutated patients: 13/180 (7.22%).", "Largest alteration is amplification: 29/182 (15.93%) in the reference cohort's copy-number profile.", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 13, "tested": 182, "frequency": 7.14, "frequency_excl_hypermutated": 7.22, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 9, "tested": 139, "frequency": 6.47, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 53.1, "width": 1.0, "reference": 53.1, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 29, "tested": 182, "frequency": 15.93, "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": "PREX2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 13, "tested": 182, "frequency": 7.14, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 12.12}, "major_variants": ["N137Tfs*3 (n=1)", "V416L (n=1)", "E127G (n=1)", "R281W (n=1)", "L50V (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 13/182 patients (7.14%).", "Without the 2 hypermutated patients: 12/180 (6.67%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 13, "tested": 182, "frequency": 7.14, "frequency_excl_hypermutated": 6.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 4, "tested": 33, "frequency": 12.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 40.4, "reference": 23.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 182, "frequency": 7.14, "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": "ERBB4", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 13, "tested": 182, "frequency": 7.14, "cohort_count": 3, "frequency_range": {"min": 4.32, "max": 8.2}, "major_variants": ["S449Y (n=1)", "S430R (n=1)", "E928* (n=1)", "C293Y (n=1)", "N1305Ifs*57 (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 13/182 patients (7.14%).", "Without the 2 hypermutated patients: 11/180 (6.11%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 13, "tested": 182, "frequency": 7.14, "frequency_excl_hypermutated": 6.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 6, "tested": 139, "frequency": 4.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 25, "tested": 305, "frequency": 8.2, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.4, "width": 12.93, "reference": 23.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 182, "frequency": 7.14, "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": "CDH11", "alteration_types": ["SNV / small indel", "amplification"], "altered": 13, "tested": 182, "frequency": 7.14, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 20.0}, "major_variants": ["F488V (n=1)", "T219S (n=1)", "A551T (n=1)", "D596N (n=1)", "F358V (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 13/182 patients (7.14%).", "Without the 2 hypermutated patients: 12/180 (6.67%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 13, "tested": 182, "frequency": 7.14, "frequency_excl_hypermutated": 6.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 1, "tested": 5, "frequency": 20.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 66.67, "reference": 23.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 182, "frequency": 7.14, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ARID1A", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 13, "tested": 182, "frequency": 7.14, "cohort_count": 3, "frequency_range": {"min": 1.44, "max": 13.77}, "major_variants": ["Y560* (n=1)", "Q1346* (n=1)", "N791K (n=1)", "G2087R (n=1)", "W1073Mfs*32 (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 13/182 patients (7.14%).", "Without the 2 hypermutated patients: 12/180 (6.67%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 13, "tested": 182, "frequency": 7.14, "frequency_excl_hypermutated": 6.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 2, "tested": 139, "frequency": 1.44, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 42, "tested": 305, "frequency": 13.77, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.8, "width": 41.1, "reference": 23.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 182, "frequency": 7.14, "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": "SMARCA4", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 12, "tested": 182, "frequency": 6.59, "cohort_count": 3, "frequency_range": {"min": 0.72, "max": 6.59}, "major_variants": ["T910M (n=2)", "R874H (n=1)", "E1211A (n=1)", "G235D (n=1)", "R966W (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 12/182 patients (6.59%).", "Without the 2 hypermutated patients: 11/180 (6.11%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 12, "tested": 182, "frequency": 6.59, "frequency_excl_hypermutated": 6.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 1, "tested": 139, "frequency": 0.72, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 14, "tested": 305, "frequency": 4.59, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.4, "width": 19.57, "reference": 21.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 182, "frequency": 6.59, "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": "PTPRT", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 12, "tested": 182, "frequency": 6.59, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 7.54}, "major_variants": ["L668V (n=2)", "F664C (n=1)", "S647P (n=1)", "R359P (n=1)", "G411S (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 12/182 patients (6.59%).", "Without the 2 hypermutated patients: 11/180 (6.11%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 12, "tested": 182, "frequency": 6.59, "frequency_excl_hypermutated": 6.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "altered": 23, "tested": 305, "frequency": 7.54, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 25.13, "reference": 21.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 182, "frequency": 6.59, "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": "PEG3", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 12, "tested": 182, "frequency": 6.59, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 6.59}, "major_variants": ["A1395S (n=1)", "L1010V (n=1)", "V1413A (n=1)", "G1338V (n=1)", "E1398D (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 12/182 patients (6.59%).", "Without the 2 hypermutated patients: 11/180 (6.11%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 12, "tested": 182, "frequency": 6.59, "frequency_excl_hypermutated": 6.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 0, "tested": 20, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 21.97, "reference": 21.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 182, "frequency": 6.59, "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": "PDZD2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 12, "tested": 182, "frequency": 6.59, "cohort_count": 2, "frequency_range": {"min": 2.88, "max": 6.59}, "major_variants": ["A162D (n=1)", "V2477M (n=1)", "T1060A (n=1)", "L2671F (n=1)", "T1425A (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 12/182 patients (6.59%).", "Without the 2 hypermutated patients: 12/180 (6.67%).", "Largest alteration is amplification: 14/182 (7.69%) in the reference cohort's copy-number profile.", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 12, "tested": 182, "frequency": 6.59, "frequency_excl_hypermutated": 6.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 4, "tested": 139, "frequency": 2.88, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 25.63, "width": 1.0, "reference": 25.63, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 14, "tested": 182, "frequency": 7.69, "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": "PCDH9", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 12, "tested": 182, "frequency": 6.59, "cohort_count": 2, "frequency_range": {"min": 3.6, "max": 6.59}, "major_variants": ["F1161C (n=1)", "E36D (n=1)", "E1072G (n=1)", "E699K (n=1)", "S905G (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 · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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: Esophageal Adenocarcinoma (TCGA, PanCancer Atlas), 12/182 patients (6.59%).", "Without the 2 hypermutated patients: 11/180 (6.11%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "esca_tcga_pan_can_atlas_2018", "cohort_name": "Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "altered": 12, "tested": 182, "frequency": 6.59, "frequency_excl_hypermutated": 6.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "182/182", "coverage_note": null, "source_id": "esca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "escc_ucla_2014", "cohort_name": "Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "altered": 5, "tested": 139, "frequency": 3.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "139/139", "coverage_note": null, "source_id": "escc_ucla_2014", "is_reference": false}, {"cohort": "egc_msk_2017", "cohort_name": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "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": "341/341", "coverage_note": null, "source_id": "egc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.0, 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{"event_type": "copy_number", "gene": "SOX2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "SOX2 amplification", "genomic_coordinate": null, "observed": 30, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 16.48, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SI", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "SI amplification", "genomic_coordinate": null, "observed": 29, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 15.93, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ERBB2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "ERBB2 amplification", "genomic_coordinate": null, "observed": 28, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 15.38, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_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": 22, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 12.09, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TRRAP", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "TRRAP amplification", "genomic_coordinate": null, "observed": 20, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 10.99, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "KRAS", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "KRAS amplification", "genomic_coordinate": null, "observed": 27, "observed_status": "observed", "observed_unit": "patients", "tested": 305, "tested_status": "observed", "tested_unit": "patients", "frequency": 8.85, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["egc_msk_2017"], "source_ids": ["egc_msk_2017_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SMAD4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "SMAD4 deep deletion", "genomic_coordinate": null, "observed": 15, "observed_status": "observed", "observed_unit": 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"Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "KRAS amplification", "genomic_coordinate": null, "observed": 13, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 7.14, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_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": 21, "observed_status": "observed", "observed_unit": "patients", "tested": 305, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.89, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["egc_msk_2017"], "source_ids": ["egc_msk_2017_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CCND1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CCND1 amplification", "genomic_coordinate": null, "observed": 21, "observed_status": "observed", "observed_unit": "patients", "tested": 305, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.89, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["egc_msk_2017"], "source_ids": ["egc_msk_2017_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CLDN18", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CLDN18 amplification", "genomic_coordinate": null, "observed": 12, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.59, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CDKN2A", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "CDKN2A deep deletion", "genomic_coordinate": null, "observed": 20, "observed_status": "observed", "observed_unit": "patients", "tested": 305, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.56, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["egc_msk_2017"], "source_ids": ["egc_msk_2017_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PTPRD", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "PTPRD deep deletion", "genomic_coordinate": null, "observed": 11, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.04, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "DCC", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "DCC deep deletion", "genomic_coordinate": null, "observed": 8, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.4, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "NOTCH1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "NOTCH1 amplification", "genomic_coordinate": null, "observed": 7, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.85, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "IVL", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "IVL amplification", "genomic_coordinate": null, "observed": 7, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.85, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "COL6A5", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "COL6A5 amplification", "genomic_coordinate": null, "observed": 7, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.85, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "NBEA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "NBEA amplification", "genomic_coordinate": null, "observed": 7, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.85, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SMAD4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "SMAD4 deep deletion", "genomic_coordinate": null, "observed": 11, "observed_status": "observed", "observed_unit": "patients", "tested": 305, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.61, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["egc_msk_2017"], "source_ids": ["egc_msk_2017_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "NFE2L2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "NFE2L2 amplification", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.3, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TENM4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "TENM4 amplification", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.3, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PTPRT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PTPRT amplification", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.3, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CD274", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "CD274 deep deletion", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.75, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PDCD1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "PDCD1 deep deletion", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.75, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "DYNC2H1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "DYNC2H1 amplification", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.75, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "HUWE1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "HUWE1 deep deletion", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.75, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PREX2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PREX2 amplification", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.75, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ERBB4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "ERBB4 deep deletion", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.75, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CD274", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CD274 amplification", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.2, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": ["esca_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "EYS", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "EYS amplification", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 182, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.2, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["esca_tcga_pan_can_atlas_2018"], "source_ids": 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"status": "observed", "unit": "patients"}, "samples": {"value": 341, "status": "observed", "unit": "samples"}, "disease_subtype": "Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "assay_type": "targeted panel", "sequencing_method": "IMPACT410 (178), IMPACT341 (127), IMPACT468 (28), IMPACT300 (8)", "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": "egc_msk_2017", "is_demo": false, "assay_coverage": {"patients_with_calls": 305, "patients_in_roster": 305, "frequencies_computed": true, "samples_sequenced": 341, "samples_in_study": 341, "hypermutated_patients": 0, "median_mutations_per_sample": 5, "reason": null}}], "sources": [{"source_name": "cBioPortal · Esophageal Adenocarcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=esca_tcga_pan_can_atlas_2018", "source_record_id": "esca_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 · Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=escc_ucla_2014", "source_record_id": "escc_ucla_2014", "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 · Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=egc_msk_2017", "source_record_id": "egc_msk_2017", "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 Esophageal Adenocarcinoma (TCGA, PanCancer Atlas) (182 sequenced patients, exome or genome), the most frequently altered of the 48 genes shown are TP53 86.81%, CDKN2A 39.01% (deep deletion), CCND1 34.62% (amplification), PIK3CA 17.58% (amplification), SOX2 16.48% (amplification). Each figure divides by the patients on whom that gene could be called.", "2 of 182 patients are hypermutated (more than 1040 non-silent mutations, ten times the cohort median of 104); every gene's frequency without them is beside the headline.", "3 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "TP53 is mutated in 158 of 182 patients in Esophageal Adenocarcinoma (TCGA, PanCancer Atlas).", "numerator": 158, "denominator": 182, "frequency": 86.81, "cohorts": 3, "evidence_confidence": "moderate", "source": "esca_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "CDKN2A is deleted in 71 of 182 patients in Esophageal Adenocarcinoma (TCGA, PanCancer Atlas).", "numerator": 71, "denominator": 182, "frequency": 39.01, "cohorts": 3, "evidence_confidence": "moderate", "source": "esca_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "CCND1 is amplified in 63 of 182 patients in Esophageal Adenocarcinoma (TCGA, PanCancer Atlas).", "numerator": 63, "denominator": 182, "frequency": 34.62, "cohorts": 1, "evidence_confidence": "moderate", "source": "esca_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": "esca_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 86.81, "altered": 158, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 59.71, "altered": 83, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 73.44, "altered": 224, "tested": 305, "note": null}]}, {"label": "ERBB2", "kind": "SNV / small indel", "gene": "ERBB2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.04, "altered": 11, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 3.93, "altered": 12, "tested": 305, "note": null}]}, {"label": "ERBB2", "kind": "amplification", "gene": "ERBB2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 15.38, "altered": 28, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 24.59, "altered": 75, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CD274", "kind": "SNV / small indel", "gene": "CD274", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 302, "note": null}]}, {"label": "CD274", "kind": "amplification", "gene": "CD274", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.2, "altered": 4, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 0.33, "altered": 1, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CD274", "kind": "deep deletion", "gene": "CD274", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.75, "altered": 5, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 0.33, "altered": 1, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PDCD1", "kind": "SNV / small indel", "gene": "PDCD1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.55, "altered": 1, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 0.66, "altered": 2, "tested": 302, "note": null}]}, {"label": "PDCD1", "kind": "deep deletion", "gene": "PDCD1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.75, "altered": 5, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 0.33, "altered": 1, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CDKN2A", "kind": "SNV / small indel", "gene": "CDKN2A", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.24, "altered": 15, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 2.88, "altered": 4, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 11.15, "altered": 34, "tested": 305, "note": null}]}, {"label": "CDKN2A", "kind": "deep deletion", "gene": "CDKN2A", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 39.01, "altered": 71, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 6.56, "altered": 20, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "NFE2L2", "kind": "SNV / small indel", "gene": "NFE2L2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.89, "altered": 18, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 5.76, "altered": 8, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 0.66, "altered": 2, "tested": 305, "note": null}]}, {"label": "NFE2L2", "kind": "amplification", "gene": "NFE2L2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.3, "altered": 6, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SOX2", "kind": "SNV / small indel", "gene": "SOX2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 0.33, "altered": 1, "tested": 305, "note": null}]}, {"label": "SOX2", "kind": "amplification", "gene": "SOX2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.48, "altered": 30, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "EGFR", "kind": "SNV / small indel", "gene": "EGFR", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.75, "altered": 5, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 0.72, "altered": 1, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 0.98, "altered": 3, "tested": 305, "note": null}]}, {"label": "EGFR", "kind": "amplification", "gene": "EGFR", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.09, "altered": 22, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 6.89, "altered": 21, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CCND1", "kind": "SNV / small indel", "gene": "CCND1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 0.33, "altered": 1, "tested": 305, "note": null}]}, {"label": "CCND1", "kind": "amplification", "gene": "CCND1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 34.62, "altered": 63, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 6.89, "altered": 21, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KRAS", "kind": "SNV / small indel", "gene": "KRAS", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.1, "altered": 2, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 9.18, "altered": 28, "tested": 305, "note": null}]}, {"label": "KRAS", "kind": "amplification", "gene": "KRAS", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.14, "altered": 13, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 8.85, "altered": 27, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SMAD4", "kind": "SNV / small indel", "gene": "SMAD4", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.59, "altered": 12, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 10.16, "altered": 31, "tested": 305, "note": null}]}, {"label": "SMAD4", "kind": "deep deletion", "gene": "SMAD4", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.24, "altered": 15, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 3.61, "altered": 11, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CLDN18", "kind": "SNV / small indel", "gene": "CLDN18", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.55, "altered": 1, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CLDN18", "kind": "amplification", "gene": "CLDN18", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.59, "altered": 12, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.54, "altered": 21, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 17.99, "altered": 25, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 8.85, "altered": 27, "tested": 305, "note": null}]}, {"label": "EYS", "kind": "SNV / small indel", "gene": "EYS", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.54, "altered": 21, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "EYS", "kind": "amplification", "gene": "EYS", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.2, "altered": 4, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "UNC13C", "kind": "SNV / small indel", "gene": "UNC13C", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.44, "altered": 19, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PCDH15", "kind": "SNV / small indel", "gene": "PCDH15", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.44, "altered": 19, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DYNC2H1", "kind": "SNV / small indel", "gene": "DYNC2H1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.44, "altered": 19, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DYNC2H1", "kind": "amplification", "gene": "DYNC2H1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.75, "altered": 5, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.34, "altered": 17, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 7.91, "altered": 11, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 8.2, "altered": 25, "tested": 305, "note": null}]}, {"label": "PIK3CA", "kind": "amplification", "gene": "PIK3CA", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 17.58, "altered": 32, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "LRRK2", "kind": "SNV / small indel", "gene": "LRRK2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.34, "altered": 17, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 2.88, "altered": 4, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "LAMA1", "kind": "SNV / small indel", "gene": "LAMA1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.34, "altered": 17, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DCDC1", "kind": "SNV / small indel", "gene": "DCDC1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.79, "altered": 16, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DCDC1", "kind": "amplification", "gene": "DCDC1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.2, "altered": 4, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "NAV3", "kind": "SNV / small indel", "gene": "NAV3", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.24, "altered": 15, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 5.04, "altered": 7, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "RIMS1", "kind": "SNV / small indel", "gene": "RIMS1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.69, "altered": 14, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PTPRD", "kind": "SNV / small indel", "gene": "PTPRD", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.69, "altered": 14, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 2.88, "altered": 4, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 5.57, "altered": 17, "tested": 305, "note": null}]}, {"label": "PTPRD", "kind": "deep deletion", "gene": "PTPRD", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.04, "altered": 11, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 0.98, "altered": 3, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PRKDC", "kind": "SNV / small indel", "gene": "PRKDC", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.69, "altered": 14, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NOTCH1", "kind": "SNV / small indel", "gene": "NOTCH1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.69, "altered": 14, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 7.91, "altered": 11, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 4.92, "altered": 15, "tested": 305, "note": null}]}, {"label": "NOTCH1", "kind": "amplification", "gene": "NOTCH1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.85, "altered": 7, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 0.33, "altered": 1, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "IVL", "kind": "SNV / small indel", "gene": "IVL", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.69, "altered": 14, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "IVL", "kind": "amplification", "gene": "IVL", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.85, "altered": 7, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "HUWE1", "kind": "SNV / small indel", "gene": "HUWE1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.69, "altered": 14, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 4.32, "altered": 6, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "HUWE1", "kind": "deep deletion", "gene": "HUWE1", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.75, "altered": 5, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "FMN2", "kind": "SNV / small indel", "gene": "FMN2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.69, "altered": 14, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 3.6, "altered": 5, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DCHS2", "kind": "SNV / small indel", "gene": "DCHS2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.69, "altered": 14, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "COL6A5", "kind": "SNV / small indel", "gene": "COL6A5", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.69, "altered": 14, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "COL6A5", "kind": "amplification", "gene": "COL6A5", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.85, "altered": 7, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "WDFY4", "kind": "SNV / small indel", "gene": "WDFY4", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.14, "altered": 13, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TRRAP", "kind": "SNV / small indel", "gene": "TRRAP", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.14, "altered": 13, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TRRAP", "kind": "amplification", "gene": "TRRAP", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.99, "altered": 20, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TENM4", "kind": "SNV / small indel", "gene": "TENM4", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.14, "altered": 13, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TENM4", "kind": "amplification", "gene": "TENM4", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.3, "altered": 6, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SI", "kind": "SNV / small indel", "gene": "SI", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.14, "altered": 13, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 6.47, "altered": 9, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SI", "kind": "amplification", "gene": "SI", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 15.93, "altered": 29, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PREX2", "kind": "SNV / small indel", "gene": "PREX2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.14, "altered": 13, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 12.12, "altered": 4, "tested": 33, "note": null}]}, {"label": "PREX2", "kind": "amplification", "gene": "PREX2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.75, "altered": 5, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ERBB4", "kind": "SNV / small indel", "gene": "ERBB4", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.14, "altered": 13, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 4.32, "altered": 6, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 8.2, "altered": 25, "tested": 305, "note": null}]}, {"label": "ERBB4", "kind": "deep deletion", "gene": "ERBB4", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.75, "altered": 5, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CDH11", "kind": "SNV / small indel", "gene": "CDH11", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.14, "altered": 13, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 20.0, "altered": 1, "tested": 5, "note": null}]}, {"label": "ARID1A", "kind": "SNV / small indel", "gene": "ARID1A", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.14, "altered": 13, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 1.44, "altered": 2, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 13.77, "altered": 42, "tested": 305, "note": null}]}, {"label": "SMARCA4", "kind": "SNV / small indel", "gene": "SMARCA4", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.59, "altered": 12, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 0.72, "altered": 1, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 4.59, "altered": 14, "tested": 305, "note": null}]}, {"label": "PTPRT", "kind": "SNV / small indel", "gene": "PTPRT", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.59, "altered": 12, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 7.54, "altered": 23, "tested": 305, "note": null}]}, {"label": "PTPRT", "kind": "amplification", "gene": "PTPRT", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.3, "altered": 6, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 0.98, "altered": 3, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PEG3", "kind": "SNV / small indel", "gene": "PEG3", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.59, "altered": 12, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PDZD2", "kind": "SNV / small indel", "gene": "PDZD2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.59, "altered": 12, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 2.88, "altered": 4, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PDZD2", "kind": "amplification", "gene": "PDZD2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.69, "altered": 14, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PCDH9", "kind": "SNV / small indel", "gene": "PCDH9", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.59, "altered": 12, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 3.6, "altered": 5, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NBEA", "kind": "SNV / small indel", "gene": "NBEA", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.59, "altered": 12, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 4.32, "altered": 6, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NBEA", "kind": "amplification", "gene": "NBEA", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.85, "altered": 7, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.59, "altered": 12, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "observed", "frequency": 7.91, "altered": 11, "tested": 139, "note": null}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 3.61, "altered": 11, "tested": 305, "note": null}]}, {"label": "KMT2C", "kind": "deep deletion", "gene": "KMT2C", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.2, "altered": 4, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "observed", "frequency": 0.33, "altered": 1, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "DOCK2", "kind": "SNV / small indel", "gene": "DOCK2", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.59, "altered": 12, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DCC", "kind": "SNV / small indel", "gene": "DCC", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.59, "altered": 12, "tested": 182, "note": null}, {"cohort": "escc_ucla_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 20, "note": null}, {"cohort": "egc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DCC", "kind": "deep deletion", "gene": "DCC", "cells": [{"cohort": "esca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.4, "altered": 8, "tested": 182, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "escc_ucla_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "egc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 305, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}]}