Supplementary Tables S1-S16 from Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes

Supplementary Tables Supplementary Table S1. Clinical and Tumoral Data from CCHD-PPGL patients. Supplementary Table S2. Selection inference in the PPGL (TCGA, non-CCHD) and CCHD-PPGL cohort. Supplementary Table S3. Cancer Cell Fraction of EPAS1 mutations in CCHD-PPGL and PPGL patients. Supplementary Table S4. Clonal Clustering of CCHD-PPGL tumor mutations, highlighting EPAS1 mutation, using Conipher. Supplementary Table S5. Clonal Clustering of PPGL tumor mutations (TCGA), highlighting EPAS1 mutation, using Conipher. Supplementary Table S6. Parallelism of EPAS1 genetic variant selection in high-altitude populations and human tumors. Supplementary Table S7. EPAS1 Frequencies of Denisovan AGGAA haplotype from 4,000 Han Chinese Population (https://www.biosino.org/pgghan2/index) compared with gnomAD cohort around the world. Supplementary Table S8. Genetic Instability Characteristics (MSI, CNA, TMB) from CCHD-PPGL and PPGL (TCGA) tumors. Supplementary Table S9. Data of 354 differentially expressed mitochondrial genes (from Human Mitocarta Database) between EPAS1MUT and EPAS1WT samples in patients with PPGL (TCGA). Supplementary Table S10. Gene expression profiling analysis from patients with hemoglobin disorders and 52 paragangliomas with various genotypes including 19 EPAS1 (including one tumor in duplicate), 6 SDHx, 2 SLC25A11, 6 VHL, 3 RET, 3 NF1, 1 MAX, 1 MAML3 and 11 unmutated paragangliomas (Mancini M et al. Br J Haematol, 2023). Supplementary Table S11. RNAseq Raw Counts from PC12 Cell line cultured under normoxia/hypoxia conditions. Supplementary Table S12. Tumor type and hypoxia onset in patients with CCHD-PPGL. Supplementary Table S13. O2 Saturation in CCHD patients with or without PPGL tumors. Supplementary Table S14. Heart surgery influence in tumor development in patients with CCHD-PPGL. Supplementary Table S15. Clinical features of tumors developed under hypoxia (CCHD-PPGL) and normoxia (non-CCHD-PPGL). Supplementary Table S16. Representation of clinical variables in patients with PPGL and CCHD-PPGL.

补充表格：补充表S1：CCHD-PPGL患者的临床及肿瘤相关数据；补充表S2：PPGL（TCGA、非CCHD）队列与CCHD-PPGL队列的遗传选择推断结果；补充表S3：CCHD-PPGL与PPGL患者的EPAS1突变癌细胞分数数据；补充表S4：基于Conipher工具对CCHD-PPGL肿瘤突变进行克隆聚类分析的结果，重点标注EPAS1突变；补充表S5：基于Conipher工具对PPGL肿瘤突变（TCGA队列）进行克隆聚类分析的结果，重点标注EPAS1突变；补充表S6：高海拔人群与人类肿瘤中EPAS1遗传变异选择的平行性分析数据；补充表S7：来自4000名中国汉族人群（https://www.biosino.org/pgghan2/index）的丹尼索瓦人AGGAA单倍型EPAS1频率数据，并与全球gnomAD队列进行对比；补充表S8：CCHD-PPGL与PPGL（TCGA）肿瘤的遗传不稳定性特征（微卫星不稳定性(MSI)、拷贝数变异(CNA)、肿瘤突变负荷(TMB)）数据；补充表S9：PPGL（TCGA队列）患者中EPAS1突变型与野生型样本间的354个差异表达线粒体基因数据（源自Human Mitocarta数据库）；补充表S10：血红蛋白病患者与52例不同基因型副神经节瘤患者的基因表达谱分析数据，该队列包含19例EPAS1突变型副神经节瘤（含1例肿瘤的重复样本）、6例SDHx突变型、2例SLC25A11突变型、6例VHL突变型、3例RET突变型、3例NF1突变型、1例MAX突变型、1例MAML3突变型以及11例野生型副神经节瘤（数据来源：Mancini M等，《英国血液学杂志》，2023年）；补充表S11：常氧/低氧条件下培养的PC12细胞系的RNA测序原始计数数据；补充表S12：CCHD-PPGL患者的肿瘤类型与低氧发作情况数据；补充表S13：伴或不伴PPGL肿瘤的CCHD患者的血氧饱和度数据；补充表S14：心脏手术对CCHD-PPGL患者肿瘤发生发展的影响数据；补充表S15：低氧环境下发生的肿瘤（CCHD-PPGL队列）与常氧环境下发生的肿瘤（非CCHD-PPGL队列）的临床特征数据；补充表S16：PPGL与CCHD-PPGL患者的临床变量表征数据