Table 1.
uORF-Associated Nucleotides in hg38 uAUG: 190,878 aTIS: 2,515,399 uStop: 624,157 |
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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 |
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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 |
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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 |