Table 2.
Tier 1 Mutations.*
| Annotated Gene | Mutation Type | Annotation | SIFT Prediction | Conservation Score | Base Conservation | Variant Frequency | Best Probe† | ||
|---|---|---|---|---|---|---|---|---|---|
| Skin | Tumor % | cDNA | |||||||
| CDC42 | Missense | S30L | Tolerated | 597 | 1 | 1.03 | 49.27 | 46.3 | 27,990 |
|
| |||||||||
| NRAS | Missense | G12D | Deleterious | 616 | 1 | 0.66 | 43.00 | 42.0 | 7,468 |
|
| |||||||||
| IDH1 | Missense | R132C | Deleterious | 445 | 1 | 0.81 | 46.06 | 63.9 | 11,400 |
|
| |||||||||
| IMPG2 | Missense | G834D | Deleterious | 472 | 0.018 | 0.67 | 46.22 | 0.4 | NA |
|
| |||||||||
| ANKRD26 | Missense | K1300N | Deleterious | 444 | 1 | 0.70 | 51.73 | 33.1 | 514 |
|
| |||||||||
| LTA4H | Missense | F107S | Tolerated | 539 | 0.946 | 0.68 | 45.28 | 47.9 | 12,138 |
|
| |||||||||
| FREM2 | Missense | Q2077E | Tolerated | 464 | 1 | 0.37 | 48.92 | 0‡ | NA |
|
| |||||||||
| C19orf62 | Splice-site | Exon 5-1 | NA | 444 | 1 | 0.27 | 38.71 | 38.8 | 5,021 |
|
| |||||||||
| SRRM1 | Silent | P691 | NA | 553 | 0.988 | 0.97 | 46.61 | ND | 12,858 |
|
| |||||||||
| PCDHA6 | Silent | A731 | NA | NS | 0.423 | 0.66 | 49.75 | ND | Absent |
|
| |||||||||
| CEP170 | In-frame insertion | Codon 177 in-frame ins L | NA | 513 | 1 | 0.28 | 28.57 | 52.0 | 15,298 |
|
| |||||||||
| NPM1 | Frame-shift insertion | W288fs | NA | 689 | 1 | 0 | 45.46 | 85.4 | 27,150 |
*
The term cDNA denotes complementary DNA, ins L insertion of Leu, NA not available, ND not done, NS no score, and SIFT Sorting Intolerant from Tolerant.
†
The best probe refers to the signal value for the most highly expressed probe on the Affymetrix GeneChip Human Genome U133 Plus 2.0 array, transformed by statistical algorithms (MAS 5.0).
‡
The variant frequency was calculated from cDNA subclones.