Patient ID | Group | Variant type | Mutation protein change | Mutant allele fraction | Function affected | Oncomorphic? | Detection method |
---|---|---|---|---|---|---|---|
LTS-001 | LT | Nonsense | p.S183* | 0.47 | Â | no | Mutect |
LTS-002 | ST | Missense | p.E224D | 0.27 | Â | no | Mutect |
LTS-003 | ST | Missense | p.R175H | 0.83 | Structural Change | yes | Mutect |
LTS-004 | LT | Frame Shift Del | p.P223fs | 0.45 | Â | no | Strelka |
LTS-005 | ST | Missense | p.D281E | 0.75 | Â | no | Mutect |
LTS-006 | ST | Missense | p.Y220C | 0.46 | Structural Change | yes | Mutect |
LTS-007 | LT | Missense | p.I195T | 0.15 | Â | no | Strelka SNV/None by targeted seq |
LTS-008 | ST | Missense | p.C242F | 0.64 | Â | no | Mutect |
LTS-009 | ST | Missense | p.M237I | 0.57 | Â | no | Mutect |
LTS-010 | ST | Missense | p.Y220C | 0.89 | Structural Change | yes | Mutect |
LTS-011 | LT | Missense | p.R248Q | 0.51 | Structural Change | yes | Mutect |
LTS-012 | LT | Missense | p.R248Q | 0.76 | Structural Change | yes | Mutect |
LTS-013 | LT | Frame Shift Del | p.A70fs | 0.57 | Â | no | Varscan2/Targeted Sequencing |
LTS-014 | LT | Splice Site | c.e7+1 | 0.89 |  | no | Strelka SNV/Targeted Sequencing (g.chr17:7577498C > A) |
LTS-015 | ST | Splice Site | c.e8+1 | 0.74 | Â | no | Mutect/Strelka SNV |
LTS-016 | LT | Missense | p.R248Q | 0.82 | Structural Change | yes | Mutect |
LTS-017 | LT | Missense | p.I195T | 0.7 | Â | no | Mutect |
LTS-018 | ST | Missense | p.G266E | 0.73 | Â | no | Mutect |
LTS-019 | LT | Missense/Frame shift Ins | p.K139Q/ p.V143fs | 0.72 | Â | no | Mutect/Strelka |
LTS-020 | LT | Splice Site | p.Q331Q | 0.62 | Â | no | Mutect |
LTS-021 | LT | Missense | p.R248W | 0.39 | DNA binding | yes | Mutect |
LTS-022 | LT | Missense | p.G245S | 0.72 | Structural Change | no | Mutect |
LTS-023 | LT | Missense | p.T125P | 1 | Â | no | Exome & Targeted sequencing |
LTS-024 | ST | Missense | p.R282W | 0.6 | Structural Change | no | Mutect |
LTS-025 | LT | Missense | p.R273H | 0.91 | DNA binding | yes | Targeted Sequencing |
LTS-026 | ST | Nonsense | p.E349* | 0.46 | Â | no | Mutect |
LTS-027 | LT | Nonsense | p.R196* | 0.56 | Â | no | Mutect |
LTS-028 | ST | Nonsense | p.G266* | 0.93 | Â | no | Mutect |
LTS-029 | LT | Missense | p.Y163H | 0.73 | Â | no | Mutect |
LTS-030 | LT | Missense | p.R273C | 0.67 | DNA binding | yes | Mutect |
LTS-031 | LT | Not detected | Not detected | – |  | no | None detected by WES on all callers/poor RNAseq |
LTS-032 | LT | Nonsense | p.W146* | 0.86 | Â | no | Mutect |
LTS-033 | ST | Missense | p.R175H | 0.4 | Structural Change | yes | Mutect |
LTS-034 | ST | Missense | p.R273L | 0.8 | Â | yes | Also found in normal (transformed adjacent normal) |
LTS-035 | ST | In Frame Insertion | p.266_267insLG | 0.18 | DNA binding | no | Strelka Exome & RNAseq |
LTS-037 | ST | Frame Shift Del | p.P87fs | 0.77 | Â | no | Strelka |
LTS-038 | ST | Missense | p.R175H | 0.63 | Structural Change | yes | Mutect |
LTS-039 | ST | Missense | p.F270S | 0.68 | Â | no | Strelka SNV |
LTS-040 | ST | Nonsense | p.E204* | 0.51 | Â | no | Mutect |