{"disease": {"name": "Cholangiocarcinoma", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "chol"}, "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": "FGFR2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 12, "tested": 417, "frequency": 2.88, "cohort_count": 3, "frequency_range": {"min": 1.56, "max": 4.37}, "major_variants": ["Y375C (n=3)", "H167_N173del (n=1)", "N549K (n=1)", "N549S (n=1)", "M640I (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 12/417 patients (2.88%).", "Without the 4 hypermutated patients: 11/413 (2.66%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 12, "tested": 417, "frequency": 2.88, "frequency_excl_hypermutated": 2.66, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 18, "tested": 412, "frequency": 4.37, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 3, "tested": 192, "frequency": 1.56, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.2, "width": 9.37, "reference": 9.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 417, "frequency": 2.88, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "IDH1", "alteration_types": ["SNV / small indel"], "altered": 16, "tested": 417, "frequency": 3.84, "cohort_count": 3, "frequency_range": {"min": 3.84, "max": 24.48}, "major_variants": ["R132C (n=9)", "R132G (n=4)", "R132L (n=3)", "R132S (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 16/417 patients (3.84%).", "Without the 4 hypermutated patients: 16/413 (3.87%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 16, "tested": 417, "frequency": 3.84, "frequency_excl_hypermutated": 3.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 85, "tested": 412, "frequency": 20.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 47, "tested": 192, "frequency": 24.48, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.8, "width": 68.8, "reference": 12.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 417, "frequency": 3.84, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KRAS", "alteration_types": ["SNV / small indel", "amplification"], "altered": 76, "tested": 417, "frequency": 18.23, "cohort_count": 3, "frequency_range": {"min": 9.47, "max": 18.23}, "major_variants": ["G12D (n=27)", "G12V (n=17)", "Q61H (n=7)", "G13D (n=6)", "G12A (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 76/417 patients (18.23%).", "Without the 4 hypermutated patients: 75/413 (18.16%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 76, "tested": 417, "frequency": 18.23, "frequency_excl_hypermutated": 18.16, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 39, "tested": 412, "frequency": 9.47, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 23, "tested": 192, "frequency": 11.98, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.57, "width": 29.2, "reference": 60.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 76, "tested": 417, "frequency": 18.23, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TP53", "alteration_types": ["SNV / small indel"], "altered": 147, "tested": 417, "frequency": 35.25, "cohort_count": 3, "frequency_range": {"min": 16.99, "max": 35.25}, "major_variants": ["R273H (n=7)", "R273C (n=7)", "R175H (n=6)", "R306* (n=6)", "G245S (n=4)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 147/417 patients (35.25%).", "Without the 4 hypermutated patients: 144/413 (34.87%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 147, "tested": 417, "frequency": 35.25, "frequency_excl_hypermutated": 34.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 70, "tested": 412, "frequency": 16.99, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 44, "tested": 192, "frequency": 22.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 56.63, "width": 43.37, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 147, "tested": 417, "frequency": 35.25, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ERBB2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 17, "tested": 417, "frequency": 4.08, "cohort_count": 3, "frequency_range": {"min": 1.04, "max": 4.08}, "major_variants": ["R678Q (n=3)", "T862A (n=2)", "Y772_A775dup (n=2)", "V842I (n=1)", "D769H (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 17/417 patients (4.08%).", "Without the 4 hypermutated patients: 17/413 (4.12%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 17, "tested": 417, "frequency": 4.08, "frequency_excl_hypermutated": 4.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 5, "tested": 412, "frequency": 1.21, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 2, "tested": 192, "frequency": 1.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.47, "width": 10.13, "reference": 13.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 417, "frequency": 4.08, "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": "BRAF", "alteration_types": ["SNV / small indel"], "altered": 14, "tested": 417, "frequency": 3.36, "cohort_count": 3, "frequency_range": {"min": 3.36, "max": 6.31}, "major_variants": ["N581S (n=3)", "G469A (n=2)", "V600E (n=1)", "T241M (n=1)", "D594A (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 14/417 patients (3.36%).", "Without the 4 hypermutated patients: 13/413 (3.15%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 14, "tested": 417, "frequency": 3.36, "frequency_excl_hypermutated": 3.15, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 26, "tested": 412, "frequency": 6.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 9, "tested": 192, "frequency": 4.69, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.2, "width": 9.83, "reference": 11.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 417, "frequency": 3.36, "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": "BAP1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 39, "tested": 417, "frequency": 9.35, "cohort_count": 3, "frequency_range": {"min": 9.35, "max": 17.48}, "major_variants": ["X146_splice (n=2)", "N504Tfs*67 (n=2)", "Q272* (n=1)", "F81L (n=1)", "X23_splice (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 39/417 patients (9.35%).", "Without the 4 hypermutated patients: 38/413 (9.2%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 39, "tested": 417, "frequency": 9.35, "frequency_excl_hypermutated": 9.2, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 72, "tested": 412, "frequency": 17.48, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 26, "tested": 192, "frequency": 13.54, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.17, "width": 27.1, "reference": 31.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 39, "tested": 417, "frequency": 9.35, "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": 80, "tested": 417, "frequency": 19.18, "cohort_count": 3, "frequency_range": {"min": 18.93, "max": 20.83}, "major_variants": ["D1850Tfs*33 (n=3)", "G276Efs*87 (n=3)", "G2087R (n=2)", "P886Hfs*5 (n=2)", "S634* (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 80/417 patients (19.18%).", "Without the 4 hypermutated patients: 77/413 (18.64%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 80, "tested": 417, "frequency": 19.18, "frequency_excl_hypermutated": 18.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 78, "tested": 412, "frequency": 18.93, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 40, "tested": 192, "frequency": 20.83, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 63.1, "width": 6.33, "reference": 63.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 80, "tested": 417, "frequency": 19.18, "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": "CDKN2A", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 13, "tested": 417, "frequency": 3.12, "cohort_count": 3, "frequency_range": {"min": 2.08, "max": 3.12}, "major_variants": ["R80* (n=2)", "D125Efs*21 (n=1)", "X153_splice (n=1)", "R46Qfs*73 (n=1)", "A36G (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 13/417 patients (3.12%).", "Without the 4 hypermutated patients: 13/413 (3.15%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 13, "tested": 417, "frequency": 3.12, "frequency_excl_hypermutated": 3.15, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 9, "tested": 412, "frequency": 2.18, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 4, "tested": 192, "frequency": 2.08, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 6.93, "width": 3.47, "reference": 10.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 417, "frequency": 3.12, "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": "PBRM1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 29, "tested": 417, "frequency": 6.95, "cohort_count": 3, "frequency_range": {"min": 6.95, "max": 10.44}, "major_variants": ["N258Kfs*6 (n=2)", "Y417* (n=1)", "E1189Rfs*6 (n=1)", "X129_splice (n=1)", "E620K (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 29/417 patients (6.95%).", "Without the 4 hypermutated patients: 27/413 (6.54%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 29, "tested": 417, "frequency": 6.95, "frequency_excl_hypermutated": 6.54, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 43, "tested": 412, "frequency": 10.44, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 20, "tested": 192, "frequency": 10.42, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 23.17, "width": 11.63, "reference": 23.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 29, "tested": 417, "frequency": 6.95, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SMAD4", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 60, "tested": 417, "frequency": 14.39, "cohort_count": 3, "frequency_range": {"min": 2.18, "max": 14.39}, "major_variants": ["R361C (n=6)", "R361H (n=4)", "R445* (n=3)", "H530Tfs*47 (n=2)", "E330K (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 60/417 patients (14.39%).", "Without the 4 hypermutated patients: 60/413 (14.53%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 60, "tested": 417, "frequency": 14.39, "frequency_excl_hypermutated": 14.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 9, "tested": 412, "frequency": 2.18, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 16, "tested": 192, "frequency": 8.33, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.27, "width": 40.7, "reference": 47.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 60, "tested": 417, "frequency": 14.39, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CD274", "alteration_types": ["amplification"], "altered": 0, "tested": 417, "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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 0/417 patients (0.0%).", "Without the 4 hypermutated patients: 0/413 (0.0%).", "Observed in 0 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 0, "tested": 417, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 0, "tested": 412, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 0, "tested": 192, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 417, "frequency": 0.0, "is_mutation": true}, "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": "FSIP2", "alteration_types": ["SNV / small indel"], "altered": 37, "tested": 417, "frequency": 8.87, "cohort_count": 1, "frequency_range": {"min": 8.87, "max": 8.87}, "major_variants": ["K659Nfs*12 (n=2)", "K6528Nfs*5 (n=2)", "Q5369K (n=1)", "A6171G (n=1)", "I3085V (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 37/417 patients (8.87%).", "Without the 4 hypermutated patients: 33/413 (7.99%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 37, "tested": 417, "frequency": 8.87, "frequency_excl_hypermutated": 7.99, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 29.57, "width": 1.0, "reference": 29.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 37, "tested": 417, "frequency": 8.87, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EPHA2", "alteration_types": ["SNV / small indel"], "altered": 36, "tested": 417, "frequency": 8.63, "cohort_count": 1, "frequency_range": {"min": 8.63, "max": 8.63}, "major_variants": ["P460Rfs*33 (n=6)", "S419* (n=2)", "I145Nfs*5 (n=1)", "P786A (n=1)", "V755A (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 36/417 patients (8.63%).", "Without the 4 hypermutated patients: 35/413 (8.47%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 36, "tested": 417, "frequency": 8.63, "frequency_excl_hypermutated": 8.47, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 28.77, "width": 1.0, "reference": 28.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 36, "tested": 417, "frequency": 8.63, "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": "APC", "alteration_types": ["SNV / small indel", "amplification"], "altered": 33, "tested": 417, "frequency": 7.91, "cohort_count": 3, "frequency_range": {"min": 1.21, "max": 7.91}, "major_variants": ["T1556Nfs*3 (n=3)", "P1594Afs*38 (n=2)", "R2204* (n=2)", "K1593Nfs*57 (n=1)", "E1577* (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 33/417 patients (7.91%).", "Without the 4 hypermutated patients: 30/413 (7.26%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 33, "tested": 417, "frequency": 7.91, "frequency_excl_hypermutated": 7.26, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 5, "tested": 412, "frequency": 1.21, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 3, "tested": 192, "frequency": 1.56, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.03, "width": 22.34, "reference": 26.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 33, "tested": 417, "frequency": 7.91, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2D", "alteration_types": ["SNV / small indel"], "altered": 30, "tested": 417, "frequency": 7.19, "cohort_count": 3, "frequency_range": {"min": 3.16, "max": 7.19}, "major_variants": ["P2354Lfs*30 (n=2)", "P1691Hfs*31 (n=1)", "A1390Qfs*27 (n=1)", "G2265Efs*21 (n=1)", "P750L (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 30/417 patients (7.19%).", "Without the 4 hypermutated patients: 27/413 (6.54%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 30, "tested": 417, "frequency": 7.19, "frequency_excl_hypermutated": 6.54, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 13, "tested": 412, "frequency": 3.16, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 9, "tested": 192, "frequency": 4.69, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.53, "width": 13.44, "reference": 23.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 30, "tested": 417, "frequency": 7.19, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2C", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 29, "tested": 417, "frequency": 6.95, "cohort_count": 3, "frequency_range": {"min": 2.91, "max": 6.95}, "major_variants": ["K2797Rfs*26 (n=2)", "X2481_splice (n=2)", "Q2054* (n=1)", "F4496Lfs*21 (n=1)", "R2240I (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 29/417 patients (6.95%).", "Without the 4 hypermutated patients: 26/413 (6.3%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 29, "tested": 417, "frequency": 6.95, "frequency_excl_hypermutated": 6.3, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 12, "tested": 412, "frequency": 2.91, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 13, "tested": 192, "frequency": 6.77, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.7, "width": 13.47, "reference": 23.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 29, "tested": 417, "frequency": 6.95, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ELF3", "alteration_types": ["SNV / small indel", "amplification"], "altered": 29, "tested": 417, "frequency": 6.95, "cohort_count": 2, "frequency_range": {"min": 2.67, "max": 6.95}, "major_variants": ["E343* (n=2)", "N83Kfs*9 (n=1)", "R344Q (n=1)", "N357Kfs*114 (n=1)", "M324Nfs*147 (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 29/417 patients (6.95%).", "Without the 4 hypermutated patients: 28/413 (6.78%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 29, "tested": 417, "frequency": 6.95, "frequency_excl_hypermutated": 6.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 6, "tested": 225, "frequency": 2.67, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.9, "width": 14.27, "reference": 23.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 29, "tested": 417, "frequency": 6.95, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ARID2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 25, "tested": 417, "frequency": 6.0, "cohort_count": 3, "frequency_range": {"min": 2.08, "max": 6.0}, "major_variants": ["T426M (n=1)", "Q1611* (n=1)", "T663* (n=1)", "X1786_splice (n=1)", "E376K (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 25/417 patients (6.0%).", "Without the 4 hypermutated patients: 24/413 (5.81%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 25, "tested": 417, "frequency": 6.0, "frequency_excl_hypermutated": 5.81, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 14, "tested": 412, "frequency": 3.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 4, "tested": 192, "frequency": 2.08, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 6.93, "width": 13.07, "reference": 20.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 25, "tested": 417, "frequency": 6.0, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "STK11", "alteration_types": ["SNV / small indel"], "altered": 23, "tested": 417, "frequency": 5.52, "cohort_count": 3, "frequency_range": {"min": 0.97, "max": 5.52}, "major_variants": ["X288_splice (n=2)", "P281Rfs*6 (n=1)", "Q220* (n=1)", "E121* (n=1)", "Y60* (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 23/417 patients (5.52%).", "Without the 4 hypermutated patients: 22/413 (5.33%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 23, "tested": 417, "frequency": 5.52, "frequency_excl_hypermutated": 5.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 4, "tested": 412, "frequency": 0.97, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 5, "tested": 192, "frequency": 2.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.23, "width": 15.17, "reference": 18.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 23, "tested": 417, "frequency": 5.52, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PXDN", "alteration_types": ["SNV / small indel"], "altered": 23, "tested": 417, "frequency": 5.52, "cohort_count": 1, "frequency_range": {"min": 5.52, "max": 5.52}, "major_variants": ["N865Mfs*25 (n=2)", "C857Lfs*10 (n=2)", "D1212N (n=1)", "G746S (n=1)", "E1186K (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 23/417 patients (5.52%).", "Without the 4 hypermutated patients: 21/413 (5.08%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 23, "tested": 417, "frequency": 5.52, "frequency_excl_hypermutated": 5.08, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 18.4, "width": 1.0, "reference": 18.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 23, "tested": 417, "frequency": 5.52, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ATM", "alteration_types": ["SNV / small indel"], "altered": 23, "tested": 417, "frequency": 5.52, "cohort_count": 3, "frequency_range": {"min": 4.85, "max": 7.81}, "major_variants": ["R1618* (n=2)", "G2695V (n=1)", "E609* (n=1)", "G2695S (n=1)", "N6T (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 23/417 patients (5.52%).", "Without the 4 hypermutated patients: 21/413 (5.08%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 23, "tested": 417, "frequency": 5.52, "frequency_excl_hypermutated": 5.08, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 20, "tested": 412, "frequency": 4.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 15, "tested": 192, "frequency": 7.81, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.17, "width": 9.86, "reference": 18.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 23, "tested": 417, "frequency": 5.52, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "RNF43", "alteration_types": ["SNV / small indel"], "altered": 22, "tested": 417, "frequency": 5.28, "cohort_count": 3, "frequency_range": {"min": 1.56, "max": 5.28}, "major_variants": ["G659Vfs*41 (n=7)", "L82* (n=1)", "W259* (n=1)", "D465Qfs*2 (n=1)", "M55Wfs*7 (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 22/417 patients (5.28%).", "Without the 4 hypermutated patients: 20/413 (4.84%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 22, "tested": 417, "frequency": 5.28, "frequency_excl_hypermutated": 4.84, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 7, "tested": 412, "frequency": 1.7, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 3, "tested": 192, "frequency": 1.56, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.2, "width": 12.4, "reference": 17.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 22, "tested": 417, "frequency": 5.28, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ADAMTS20", "alteration_types": ["SNV / small indel"], "altered": 22, "tested": 417, "frequency": 5.28, "cohort_count": 1, "frequency_range": {"min": 5.28, "max": 5.28}, "major_variants": ["W1367R (n=1)", "G649D (n=1)", "R603* (n=1)", "K548N (n=1)", "G115R (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 22/417 patients (5.28%).", "Without the 4 hypermutated patients: 18/413 (4.36%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 22, "tested": 417, "frequency": 5.28, "frequency_excl_hypermutated": 4.36, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.6, "width": 1.0, "reference": 17.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 22, "tested": 417, "frequency": 5.28, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SF3B1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 21, "tested": 417, "frequency": 5.04, "cohort_count": 3, "frequency_range": {"min": 2.18, "max": 5.04}, "major_variants": ["R625H (n=4)", "K700E (n=3)", "G740E (n=3)", "E776G (n=1)", "M675L (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 21/417 patients (5.04%).", "Without the 4 hypermutated patients: 19/413 (4.6%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 21, "tested": 417, "frequency": 5.04, "frequency_excl_hypermutated": 4.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 9, "tested": 412, "frequency": 2.18, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 5, "tested": 192, "frequency": 2.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.27, "width": 9.53, "reference": 16.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 417, "frequency": 5.04, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "RNF213", "alteration_types": ["SNV / small indel"], "altered": 21, "tested": 417, "frequency": 5.04, "cohort_count": 1, "frequency_range": {"min": 5.04, "max": 5.04}, "major_variants": ["S2684L (n=2)", "Y2715C (n=2)", "A385T (n=1)", "R2639G (n=1)", "D5020N (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 21/417 patients (5.04%).", "Without the 4 hypermutated patients: 17/413 (4.12%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 21, "tested": 417, "frequency": 5.04, "frequency_excl_hypermutated": 4.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.8, "width": 1.0, "reference": 16.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 417, "frequency": 5.04, "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": 21, "tested": 417, "frequency": 5.04, "cohort_count": 3, "frequency_range": {"min": 4.13, "max": 6.77}, "major_variants": ["H1047R (n=3)", "H1047L (n=3)", "M1043I (n=2)", "R88Q (n=2)", "T1025A (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 21/417 patients (5.04%).", "Without the 4 hypermutated patients: 18/413 (4.36%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 21, "tested": 417, "frequency": 5.04, "frequency_excl_hypermutated": 4.36, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 17, "tested": 412, "frequency": 4.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 13, "tested": 192, "frequency": 6.77, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.77, "width": 8.8, "reference": 16.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 417, "frequency": 5.04, "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": "GNAS", "alteration_types": ["SNV / small indel", "amplification"], "altered": 21, "tested": 417, "frequency": 5.04, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 5.04}, "major_variants": ["R201H (n=10)", "R201C (n=9)", "Q227R (n=1)", "K53T (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 21/417 patients (5.04%).", "Without the 4 hypermutated patients: 19/413 (4.6%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 21, "tested": 417, "frequency": 5.04, "frequency_excl_hypermutated": 4.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 0, "tested": 412, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 1, "tested": 192, "frequency": 0.52, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 16.8, "reference": 16.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 417, "frequency": 5.04, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FAT2", "alteration_types": ["SNV / small indel"], "altered": 20, "tested": 417, "frequency": 4.8, "cohort_count": 1, "frequency_range": {"min": 4.8, "max": 4.8}, "major_variants": ["R4236Q (n=2)", "Y3462Lfs*26 (n=2)", "Q1766H (n=1)", "L1379F (n=1)", "G1710D (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 20/417 patients (4.8%).", "Without the 4 hypermutated patients: 17/413 (4.12%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 20, "tested": 417, "frequency": 4.8, "frequency_excl_hypermutated": 4.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.0, "width": 1.0, "reference": 16.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 417, "frequency": 4.8, "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": "ESX1", "alteration_types": ["SNV / small indel"], "altered": 20, "tested": 417, "frequency": 4.8, "cohort_count": 1, "frequency_range": {"min": 4.8, "max": 4.8}, "major_variants": ["P347R (n=14)", "R338P (n=4)", "V339L (n=3)", "G79S (n=1)", "A145T (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 20/417 patients (4.8%).", "Without the 4 hypermutated patients: 18/413 (4.36%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 20, "tested": 417, "frequency": 4.8, "frequency_excl_hypermutated": 4.36, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.0, "width": 1.0, "reference": 16.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 417, "frequency": 4.8, "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": "ADGRG4", "alteration_types": ["SNV / small indel"], "altered": 20, "tested": 417, "frequency": 4.8, "cohort_count": 1, "frequency_range": {"min": 4.8, "max": 4.8}, "major_variants": ["F36Lfs*8 (n=1)", "G2563W (n=1)", "K1281N (n=1)", "M927I (n=1)", "T2271M (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 20/417 patients (4.8%).", "Without the 4 hypermutated patients: 16/413 (3.87%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 20, "tested": 417, "frequency": 4.8, "frequency_excl_hypermutated": 3.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.0, "width": 1.0, "reference": 16.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 417, "frequency": 4.8, "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": "ACAN", "alteration_types": ["SNV / small indel"], "altered": 20, "tested": 417, "frequency": 4.8, "cohort_count": 1, "frequency_range": {"min": 4.8, "max": 4.8}, "major_variants": ["I1829N (n=1)", "I73M (n=1)", "G1757R (n=1)", "G1914W (n=1)", "E1907Q (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 20/417 patients (4.8%).", "Without the 4 hypermutated patients: 17/413 (4.12%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 20, "tested": 417, "frequency": 4.8, "frequency_excl_hypermutated": 4.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.0, "width": 1.0, "reference": 16.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 417, "frequency": 4.8, "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": "RASA1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 19, "tested": 417, "frequency": 4.56, "cohort_count": 3, "frequency_range": {"min": 4.13, "max": 4.69}, "major_variants": ["R789* (n=2)", "P144Wfs*28 (n=1)", "P141Lfs*33 (n=1)", "W638* (n=1)", "G83E (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 19/417 patients (4.56%).", "Without the 4 hypermutated patients: 15/413 (3.63%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 19, "tested": 417, "frequency": 4.56, "frequency_excl_hypermutated": 3.63, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 17, "tested": 412, "frequency": 4.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 9, "tested": 192, "frequency": 4.69, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.77, "width": 1.86, "reference": 15.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 417, "frequency": 4.56, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "GLI3", "alteration_types": ["SNV / small indel"], "altered": 19, "tested": 417, "frequency": 4.56, "cohort_count": 1, "frequency_range": {"min": 4.56, "max": 4.56}, "major_variants": ["I254V (n=1)", "R1010W (n=1)", "D428N (n=1)", "E1014K (n=1)", "R1189H (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 19/417 patients (4.56%).", "Without the 4 hypermutated patients: 17/413 (4.12%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 19, "tested": 417, "frequency": 4.56, "frequency_excl_hypermutated": 4.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.2, "width": 1.0, "reference": 15.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 417, "frequency": 4.56, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CTNNA2", "alteration_types": ["SNV / small indel"], "altered": 19, "tested": 417, "frequency": 4.56, "cohort_count": 1, "frequency_range": {"min": 4.56, "max": 4.56}, "major_variants": ["D113V (n=1)", "A797T (n=1)", "A365V (n=1)", "R538Q (n=1)", "T222M (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 19/417 patients (4.56%).", "Without the 4 hypermutated patients: 17/413 (4.12%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 19, "tested": 417, "frequency": 4.56, "frequency_excl_hypermutated": 4.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.2, "width": 1.0, "reference": 15.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 417, "frequency": 4.56, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ACVR2A", "alteration_types": ["SNV / small indel"], "altered": 19, "tested": 417, "frequency": 4.56, "cohort_count": 1, "frequency_range": {"min": 4.56, "max": 4.56}, "major_variants": ["K437Rfs*5 (n=12)", "V433del (n=1)", "N43Ifs*31 (n=1)", "F12Lfs*61 (n=1)", "Y388C (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 19/417 patients (4.56%).", "Without the 4 hypermutated patients: 16/413 (3.87%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 19, "tested": 417, "frequency": 4.56, "frequency_excl_hypermutated": 3.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.2, "width": 1.0, "reference": 15.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 417, "frequency": 4.56, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ROBO2", "alteration_types": ["SNV / small indel"], "altered": 18, "tested": 417, "frequency": 4.32, "cohort_count": 1, "frequency_range": {"min": 4.32, "max": 4.32}, "major_variants": ["V1079Sfs*22 (n=2)", "C293R (n=1)", "G803R (n=1)", "S737R (n=1)", "R673C (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 18/417 patients (4.32%).", "Without the 4 hypermutated patients: 16/413 (3.87%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 18, "tested": 417, "frequency": 4.32, "frequency_excl_hypermutated": 3.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.4, "width": 1.0, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 417, "frequency": 4.32, "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": "LAMA2", "alteration_types": ["SNV / small indel"], "altered": 18, "tested": 417, "frequency": 4.32, "cohort_count": 1, "frequency_range": {"min": 4.32, "max": 4.32}, "major_variants": ["E1727* (n=1)", "R499S (n=1)", "P3120Qfs*41 (n=1)", "T186A (n=1)", "A102T (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 18/417 patients (4.32%).", "Without the 4 hypermutated patients: 15/413 (3.63%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 18, "tested": 417, "frequency": 4.32, "frequency_excl_hypermutated": 3.63, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.4, "width": 1.0, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 417, "frequency": 4.32, "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"], "altered": 17, "tested": 417, "frequency": 4.08, "cohort_count": 1, "frequency_range": {"min": 4.08, "max": 4.08}, "major_variants": ["G2581* (n=1)", "T590M (n=1)", "R230H (n=1)", "G1146V (n=1)", "Q1812E (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 17/417 patients (4.08%).", "Without the 4 hypermutated patients: 15/413 (3.63%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 17, "tested": 417, "frequency": 4.08, "frequency_excl_hypermutated": 3.63, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.6, "width": 1.0, "reference": 13.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 417, "frequency": 4.08, "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": "ARID1B", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 17, "tested": 417, "frequency": 4.08, "cohort_count": 3, "frequency_range": {"min": 2.18, "max": 4.08}, "major_variants": ["S2060F (n=1)", "S1865Y (n=1)", "X1230_splice (n=1)", "P2185Rfs*8 (n=1)", "G160R (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 17/417 patients (4.08%).", "Without the 4 hypermutated patients: 16/413 (3.87%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 17, "tested": 417, "frequency": 4.08, "frequency_excl_hypermutated": 3.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 9, "tested": 412, "frequency": 2.18, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 5, "tested": 192, "frequency": 2.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.27, "width": 6.33, "reference": 13.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 417, "frequency": 4.08, "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": "ROBO3", "alteration_types": ["SNV / small indel"], "altered": 16, "tested": 417, "frequency": 3.84, "cohort_count": 1, "frequency_range": {"min": 3.84, "max": 3.84}, "major_variants": ["R191Pfs*61 (n=2)", "M501I (n=1)", "R191Afs*31 (n=1)", "A1227V (n=1)", "E1125D (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 16/417 patients (3.84%).", "Without the 4 hypermutated patients: 13/413 (3.15%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 16, "tested": 417, "frequency": 3.84, "frequency_excl_hypermutated": 3.15, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.8, "width": 1.0, "reference": 12.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 417, "frequency": 3.84, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "BSN", "alteration_types": ["SNV / small indel"], "altered": 16, "tested": 417, "frequency": 3.84, "cohort_count": 1, "frequency_range": {"min": 3.84, "max": 3.84}, "major_variants": ["R267Q (n=1)", "S693_S695del (n=1)", "S1471F (n=1)", "R2188H (n=1)", "T1327Pfs*44 (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 16/417 patients (3.84%).", "Without the 4 hypermutated patients: 14/413 (3.39%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 16, "tested": 417, "frequency": 3.84, "frequency_excl_hypermutated": 3.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.8, "width": 1.0, "reference": 12.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 417, "frequency": 3.84, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "BRCA2", "alteration_types": ["SNV / small indel"], "altered": 16, "tested": 417, "frequency": 3.84, "cohort_count": 3, "frequency_range": {"min": 0.97, "max": 3.84}, "major_variants": ["N1784Tfs*7 (n=2)", "F3328Ifs*3 (n=1)", "F3159Ifs*9 (n=1)", "R2418I (n=1)", "N1784Kfs*3 (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 16/417 patients (3.84%).", "Without the 4 hypermutated patients: 13/413 (3.15%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 16, "tested": 417, "frequency": 3.84, "frequency_excl_hypermutated": 3.15, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "altered": 4, "tested": 412, "frequency": 0.97, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "altered": 2, "tested": 192, "frequency": 1.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.23, "width": 9.57, "reference": 12.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 417, "frequency": 3.84, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ASTN1", "alteration_types": ["SNV / small indel"], "altered": 16, "tested": 417, "frequency": 3.84, "cohort_count": 1, "frequency_range": {"min": 3.84, "max": 3.84}, "major_variants": ["R184C (n=1)", "G853S (n=1)", "S69L (n=1)", "R465Q (n=1)", "R879W (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 · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "derived_insights": ["Reference cohort: Cholangiocarcinoma (ICGC, Cancer Discov 2017), 16/417 patients (3.84%).", "Without the 4 hypermutated patients: 13/413 (3.15%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "chol_icgc_2017", "cohort_name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "altered": 16, "tested": 417, "frequency": 3.84, "frequency_excl_hypermutated": 3.15, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "417/489", "coverage_note": null, "source_id": "chol_icgc_2017", "is_reference": true}, {"cohort": "ihch_msk_2021", "cohort_name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "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": "412/412", "coverage_note": null, "source_id": "ihch_msk_2021", "is_reference": false}, {"cohort": "chol_msk_2018", "cohort_name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "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": "195/195", "coverage_note": null, "source_id": "chol_msk_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.8, "width": 1.0, "reference": 12.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 417, "frequency": 3.84, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}], "variants": [], "genomic_events": [{"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": 35, "observed_status": "observed", "observed_unit": "patients", "tested": 412, "tested_status": "observed", "tested_unit": "patients", "frequency": 8.5, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["ihch_msk_2021"], "source_ids": ["ihch_msk_2021_cna"], "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": 15, "observed_status": "observed", "observed_unit": "patients", "tested": 192, "tested_status": "observed", "tested_unit": "patients", "frequency": 7.81, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["chol_msk_2018"], "source_ids": ["chol_msk_2018_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ERBB2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "ERBB2 amplification", "genomic_coordinate": null, "observed": 7, "observed_status": "observed", "observed_unit": "patients", "tested": 192, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.65, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["chol_msk_2018"], "source_ids": ["chol_msk_2018_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "GNAS", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "GNAS amplification", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 192, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.6, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["chol_msk_2018"], "source_ids": ["chol_msk_2018_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ELF3", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "ELF3 amplification", "genomic_coordinate": null, "observed": 9, "observed_status": "observed", "observed_unit": "patients", "tested": 412, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.18, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["ihch_msk_2021"], "source_ids": ["ihch_msk_2021_cna"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 3, "total_cohorts": 3}, {"modality": "Copy number (discrete)", "available_cohorts": 2, "total_cohorts": 3}, {"modality": "Structural variant (present, not read)", "available_cohorts": 2, "total_cohorts": 3}], "chromosome_summary": [], "cohorts": [{"name": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source": "cBioPortal", "accession": "chol_icgc_2017", "patients": {"value": 417, "status": "observed", "unit": "patients"}, "samples": {"value": 417, "status": "observed", "unit": "samples"}, "disease_subtype": "Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "assay_type": "exome or genome", "sequencing_method": "WES (417)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "chol_icgc_2017", "is_demo": false, "assay_coverage": {"patients_with_calls": 417, "patients_in_roster": 417, "frequencies_computed": true, "samples_sequenced": 417, "samples_in_study": 489, "hypermutated_patients": 4, "median_mutations_per_sample": 6, "reason": null}}, {"name": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source": "cBioPortal", "accession": "ihch_msk_2021", "patients": {"value": 412, "status": "observed", "unit": "patients"}, "samples": {"value": 412, "status": "observed", "unit": "samples"}, "disease_subtype": "Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "assay_type": "targeted panel", "sequencing_method": "IMPACT468 (225), IMPACT410 (147), IMPACT341 (40)", "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": "ihch_msk_2021", "is_demo": false, "assay_coverage": {"patients_with_calls": 412, "patients_in_roster": 412, "frequencies_computed": true, "samples_sequenced": 412, "samples_in_study": 412, "hypermutated_patients": 0, "median_mutations_per_sample": 3.0, "reason": null}}, {"name": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source": "cBioPortal", "accession": "chol_msk_2018", "patients": {"value": 192, "status": "observed", "unit": "patients"}, "samples": {"value": 195, "status": "observed", "unit": "samples"}, "disease_subtype": "Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "assay_type": "targeted panel", "sequencing_method": "IMPACT410 (141), IMPACT341 (54)", "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": "chol_msk_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 192, "patients_in_roster": 192, "frequencies_computed": true, "samples_sequenced": 195, "samples_in_study": 195, "hypermutated_patients": 0, "median_mutations_per_sample": 3, "reason": null}}], "sources": [{"source_name": "cBioPortal · Cholangiocarcinoma (ICGC, Cancer Discov 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_icgc_2017", "source_record_id": "chol_icgc_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}, {"source_name": "cBioPortal · Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=ihch_msk_2021", "source_record_id": "ihch_msk_2021", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Cholangiocarcinoma (MSK, Clin Cancer Res 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=chol_msk_2018", "source_record_id": "chol_msk_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}], "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 Cholangiocarcinoma (ICGC, Cancer Discov 2017) (417 sequenced patients, exome or genome), the most frequently altered of the 44 genes shown are TP53 35.25%, ARID1A 19.18%, KRAS 18.23%, SMAD4 14.39%, BAP1 9.35%. Each figure divides by the patients on whom that gene could be called.", "4 of 417 patients are hypermutated (more than 100 non-silent mutations, ten times the cohort median of 6); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 1 are altered in under 2% of this cohort (CD274): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "3 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "TP53 is mutated in 147 of 417 patients in Cholangiocarcinoma (ICGC, Cancer Discov 2017).", "numerator": 147, "denominator": 417, "frequency": 35.25, "cohorts": 3, "evidence_confidence": "moderate", "source": "chol_icgc_2017", "retrieved_at": "2026-09-18"}, {"finding": "ARID1A is mutated in 80 of 417 patients in Cholangiocarcinoma (ICGC, Cancer Discov 2017).", "numerator": 80, "denominator": 417, "frequency": 19.18, "cohorts": 3, "evidence_confidence": "moderate", "source": "chol_icgc_2017", "retrieved_at": "2026-09-18"}, {"finding": "KRAS is mutated in 76 of 417 patients in Cholangiocarcinoma (ICGC, Cancer Discov 2017).", "numerator": 76, "denominator": 417, "frequency": 18.23, "cohorts": 3, "evidence_confidence": "moderate", "source": "chol_icgc_2017", "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": "chol_icgc_2017", "region_events": [], "matrix": [{"label": "FGFR2", "kind": "SNV / small indel", "gene": "FGFR2", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 2.88, "altered": 12, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 4.37, "altered": 18, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 1.56, "altered": 3, "tested": 192, "note": null}]}, {"label": "IDH1", "kind": "SNV / small indel", "gene": "IDH1", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 3.84, "altered": 16, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 20.63, "altered": 85, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 24.48, "altered": 47, "tested": 192, "note": null}]}, {"label": "KRAS", "kind": "SNV / small indel", "gene": "KRAS", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 18.23, "altered": 76, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 9.47, "altered": 39, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 11.98, "altered": 23, "tested": 192, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 35.25, "altered": 147, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 16.99, "altered": 70, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 22.92, "altered": 44, "tested": 192, "note": null}]}, {"label": "ERBB2", "kind": "SNV / small indel", "gene": "ERBB2", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 4.08, "altered": 17, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 1.21, "altered": 5, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 1.04, "altered": 2, "tested": 192, "note": null}]}, {"label": "ERBB2", "kind": "amplification", "gene": "ERBB2", "cells": [{"cohort": "chol_icgc_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 1.7, "altered": 7, "tested": 412, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 3.65, "altered": 7, "tested": 192, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "BRAF", "kind": "SNV / small indel", "gene": "BRAF", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 3.36, "altered": 14, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 6.31, "altered": 26, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 4.69, "altered": 9, "tested": 192, "note": null}]}, {"label": "BAP1", "kind": "SNV / small indel", "gene": "BAP1", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 9.35, "altered": 39, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 17.48, "altered": 72, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 13.54, "altered": 26, "tested": 192, "note": null}]}, {"label": "ARID1A", "kind": "SNV / small indel", "gene": "ARID1A", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 19.18, "altered": 80, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 18.93, "altered": 78, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 20.83, "altered": 40, "tested": 192, "note": null}]}, {"label": "CDKN2A", "kind": "SNV / small indel", "gene": "CDKN2A", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 3.12, "altered": 13, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 2.18, "altered": 9, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 2.08, "altered": 4, "tested": 192, "note": null}]}, {"label": "CDKN2A", "kind": "deep deletion", "gene": "CDKN2A", "cells": [{"cohort": "chol_icgc_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 8.5, "altered": 35, "tested": 412, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 7.81, "altered": 15, "tested": 192, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PBRM1", "kind": "SNV / small indel", "gene": "PBRM1", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 6.95, "altered": 29, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 10.44, "altered": 43, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 10.42, "altered": 20, "tested": 192, "note": null}]}, {"label": "SMAD4", "kind": "SNV / small indel", "gene": "SMAD4", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 14.39, "altered": 60, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 2.18, "altered": 9, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 8.33, "altered": 16, "tested": 192, "note": null}]}, {"label": "CD274", "kind": "SNV / small indel", "gene": "CD274", "cells": [{"cohort": "chol_icgc_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 192, "note": null}]}, {"label": "FSIP2", "kind": "SNV / small indel", "gene": "FSIP2", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 8.87, "altered": 37, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "EPHA2", "kind": "SNV / small indel", "gene": "EPHA2", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 8.63, "altered": 36, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "APC", "kind": "SNV / small indel", "gene": "APC", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 7.91, "altered": 33, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 1.21, "altered": 5, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 1.56, "altered": 3, "tested": 192, "note": null}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 7.19, "altered": 30, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 3.16, "altered": 13, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 4.69, "altered": 9, "tested": 192, "note": null}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 6.95, "altered": 29, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 2.91, "altered": 12, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 6.77, "altered": 13, "tested": 192, "note": null}]}, {"label": "ELF3", "kind": "SNV / small indel", "gene": "ELF3", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 6.95, "altered": 29, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 2.67, "altered": 6, "tested": 225, "note": null}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ELF3", "kind": "amplification", "gene": "ELF3", "cells": [{"cohort": "chol_icgc_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 2.18, "altered": 9, "tested": 412, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "chol_msk_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 192, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ARID2", "kind": "SNV / small indel", "gene": "ARID2", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 6.0, "altered": 25, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 3.4, "altered": 14, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 2.08, "altered": 4, "tested": 192, "note": null}]}, {"label": "STK11", "kind": "SNV / small indel", "gene": "STK11", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 5.52, "altered": 23, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 0.97, "altered": 4, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 2.6, "altered": 5, "tested": 192, "note": null}]}, {"label": "PXDN", "kind": "SNV / small indel", "gene": "PXDN", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 5.52, "altered": 23, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ATM", "kind": "SNV / small indel", "gene": "ATM", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 5.52, "altered": 23, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 4.85, "altered": 20, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 7.81, "altered": 15, "tested": 192, "note": null}]}, {"label": "RNF43", "kind": "SNV / small indel", "gene": "RNF43", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 5.28, "altered": 22, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 1.7, "altered": 7, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 1.56, "altered": 3, "tested": 192, "note": null}]}, {"label": "ADAMTS20", "kind": "SNV / small indel", "gene": "ADAMTS20", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 5.28, "altered": 22, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SF3B1", "kind": "SNV / small indel", "gene": "SF3B1", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 5.04, "altered": 21, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 2.18, "altered": 9, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 2.6, "altered": 5, "tested": 192, "note": null}]}, {"label": "RNF213", "kind": "SNV / small indel", "gene": "RNF213", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 5.04, "altered": 21, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 5.04, "altered": 21, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 4.13, "altered": 17, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 6.77, "altered": 13, "tested": 192, "note": null}]}, {"label": "GNAS", "kind": "SNV / small indel", "gene": "GNAS", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 5.04, "altered": 21, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 0.52, "altered": 1, "tested": 192, "note": null}]}, {"label": "GNAS", "kind": "amplification", "gene": "GNAS", "cells": [{"cohort": "chol_icgc_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 0.97, "altered": 4, "tested": 412, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 2.6, "altered": 5, "tested": 192, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "FAT2", "kind": "SNV / small indel", "gene": "FAT2", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 4.8, "altered": 20, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ESX1", "kind": "SNV / small indel", "gene": "ESX1", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 4.8, "altered": 20, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ADGRG4", "kind": "SNV / small indel", "gene": "ADGRG4", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 4.8, "altered": 20, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ACAN", "kind": "SNV / small indel", "gene": "ACAN", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 4.8, "altered": 20, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "RASA1", "kind": "SNV / small indel", "gene": "RASA1", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 4.56, "altered": 19, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 4.13, "altered": 17, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 4.69, "altered": 9, "tested": 192, "note": null}]}, {"label": "GLI3", "kind": "SNV / small indel", "gene": "GLI3", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 4.56, "altered": 19, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CTNNA2", "kind": "SNV / small indel", "gene": "CTNNA2", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 4.56, "altered": 19, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ACVR2A", "kind": "SNV / small indel", "gene": "ACVR2A", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 4.56, "altered": 19, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ROBO2", "kind": "SNV / small indel", "gene": "ROBO2", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 4.32, "altered": 18, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "LAMA2", "kind": "SNV / small indel", "gene": "LAMA2", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 4.32, "altered": 18, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "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": "chol_icgc_2017", "status": "observed", "frequency": 4.08, "altered": 17, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ARID1B", "kind": "SNV / small indel", "gene": "ARID1B", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 4.08, "altered": 17, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 2.18, "altered": 9, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 2.6, "altered": 5, "tested": 192, "note": null}]}, {"label": "ROBO3", "kind": "SNV / small indel", "gene": "ROBO3", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 3.84, "altered": 16, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "BSN", "kind": "SNV / small indel", "gene": "BSN", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 3.84, "altered": 16, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "BRCA2", "kind": "SNV / small indel", "gene": "BRCA2", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 3.84, "altered": 16, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "observed", "frequency": 0.97, "altered": 4, "tested": 412, "note": null}, {"cohort": "chol_msk_2018", "status": "observed", "frequency": 1.04, "altered": 2, "tested": 192, "note": null}]}, {"label": "ASTN1", "kind": "SNV / small indel", "gene": "ASTN1", "cells": [{"cohort": "chol_icgc_2017", "status": "observed", "frequency": 3.84, "altered": 16, "tested": 417, "note": null}, {"cohort": "ihch_msk_2021", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "chol_msk_2018", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}]}