ENAapplication/xmlftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR195/066/SRR19577166/SRR19577166_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR195/065/SRR19577165/SRR19577165_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR195/065/SRR19577165/SRR19577165_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR195/066/SRR19577166/SRR19577166_1.fastq.gzprimaryOK200GenomicsNational cheng kung university hospitalhttps://www.ebi.ac.uk/ena/browser/view/PRJNA846951One case exhibited MSI-H but no loss in the dMMR IHC. Results of the NGS analysis in this case showed that, as compared with the non-tumorous region, the CRC tumour specimen harbored three major somatic mutations: 15% alleles with MLH1 c.2040C>T silent mutation, 31% with PMS2 c.379G>A, which results in missense mutation Ala127Thr, and 40% with MSH6 c.3152delT mutation, which results in frameshift at Val1051 and premature translation termination.ENAfalseMSH6 sequence2023-05-192022-06-16PRJNA846951