Table 1.
Summary of the highly confident mutations used for ddPCR fluorescent probes
| Probe | Sample | Gene | Chromosome | Position | Mutation type | Number of tools that called the mutation | Tumor |
Normal |
||
|---|---|---|---|---|---|---|---|---|---|---|
| Reference allele reads (%) | Mutant allelle reads (%) | Reference allele reads (%) | Mutant allelle reads (%) | |||||||
| 1 | Case 1 | XKR7 | chr20 | 30585194 | Nonsynonymous | 4/4 | 63 (62%) | 39 (38%) | 59 (97%) | 2 (3%) |
| 2 | Case 1 | GPR112 | chrX | 135443724 | Nonsynonymous | 4/4 | 65 (76%) | 20 (24%) | 67 (100%) | 0 (0%) |
| 3 | Case 1 | OR5AC2 | chr3 | 97806176 | Nonsynonymous | 4/4 | 142 (75%) | 48 (25%) | 128 (100%) | 0 (0%) |
| 4 | Case 1 | GPR112 | chrX | 135429739 | Nonsynonymous | 4/4 | 60 (67%) | 29 (33%) | 59 (100%) | 0 (0%) |
| 5 | Case 1 | DDX41 | chr5 | 176943308 | Synonymous | 4/4 | 61 (59%) | 43 (41%) | 65 (100%) | 0 (0%) |
| 6 | Case 2 | FSCB | chrl4 | 44974189 | Nonsynonymous | 4/4 | 53 (56%) | 42 (44%) | 96 (96%) | 4 (4%) |
| 7 | Case 3 | CDH5 | chrl6 | 66426221 | Nonsynonymous | 4/4 | 24 (41%) | 34 (59%) | 46 (100%) | 0 (0%) |
| 8 | Case 3 | PICALM | chrll | 85692828 | Not exonic | 4/4 | 21 (57%) | 16 (43%) | 44 (100%) | 0 (0%) |
The gene for probe four (bolded), GPR112, was listed in the COSMIC database (COSM363149)