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. 2021 May 29;9(6):618. doi: 10.3390/biomedicines9060618

Table 1.

Summary of screened uORF-associated genomic positions, analyzed types of cancer, and identified SNVs affecting uAUG, aTIS, and uStop codons.

uORF-Associated Nucleotides in hg38
uAUG: 190,878 aTIS: 2,515,399 uStop: 624,157
Type of Cancer BRCA COAD LUAD PRAD SKCM LAML All
Patients, n 1044 433 569 498 470 149 3163
filters to identify SNVs
≥10 sequencing reads in tumor and normal BAM file
≥3 alternative reads in tumor VCF file
SNV alters/deletes uAUG or aTIS or deletes uStop codon
≥1 TV includes the SNV
All SNVs 7278 8756 8161 2017 26051 1913 48491
Affected patients, % 99.8 99.1 100 99.6 100 100 99.7
additional filters to identify somatic SNVs
≥4 x higher alt/ref read ratio in tumor
≥2 patients with same somatic mutation
Recurrent somatic SNVs 1029 339 494 114 3748 258 5277
Affected patients, % 68.0 67.4 68.0 38.8 86.8 75.2 66.5
Variants in ≥1% of pts. 94 37 75 14 241 258 567
Affected patients, % 35.1 40.4 31.1 20.9 61.7 75.2 38.7
SNVs w/o dbSNP entry 80 45 56 3 2112 72 2363
% of recurrent som. SNVs 7.5 13.3 11.3 2.6 56.4 27.9 44.8