Mutation Assessor
Skin Cutaneous Melanoma (Metastatic)
Due to issues with GAF 3.0, we strongly advise caution in the use of these results.
23 September 2013
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analyses__2013_09_23
Maintainer Information
Citation Information
Maintained by David Heiman
(Broad Institute)
Cite as
Broad Institute TCGA Genome Data Analysis Center
(2013):
Mutation Assessor.
Broad Institute of MIT and Harvard.
doi:10.7908/C1CJ8BVC
Overview
Introduction
Summary
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High Functional Impact Missense Mutations: 7407
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Medium Functional Impact Missense Mutations: 37647
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Low Functional Impact Missense Mutations: 38052
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Neutral Functional Impact Mutations: 26412
Results
Functional Impact by Gene
Table 1. Get Full Table A gene-level breakdown of missense mutation functional impact, ordered by MutSig rank. Includes missense mutation counts broken down by level of functional impact (high, medium, low, neutral), median functional impact score and level, and most common level(s) of functional impact (mode) per gene.
| Gene |
MutSig Rank |
High Functional Impact Count |
Medium Functional Impact Count |
Low Functional Impact Count |
Neutral Functional Impact Count |
Median Functional Impact Score |
Median Functional Impact Level |
Mode Functional Impact Level |
|---|---|---|---|---|---|---|---|---|
| C15orf23 | 1 | 0 | 0 | 4 | 10 | 0.000 | neutral | neutral |
| CDKN2A | 4 | 0 | 1 | 4 | 0 | 1.815 | low | low |
| NRAS | 5 | 36 | 28 | 0 | 0 | 3.625 | high | high |
| BRAF | 6 | 7 | 6 | 88 | 5 | 1.320 | low | low |
| OXA1L | 7 | 0 | 0 | 0 | 7 | 0.695 | neutral | neutral |
| TTN | 8 | 78 | 272 | 350 | 249 | 1.505 | low | low |
| UGT2B15 | 9 | 7 | 8 | 0 | 4 | 2.710 | medium | medium |
| TP53 | 10 | 0 | 22 | 0 | 1 | 3.145 | medium | medium |
| STK19 | 11 | 0 | 1 | 1 | 11 | 0.695 | neutral | neutral |
| PTEN | 12 | 3 | 4 | 0 | 0 | 3.475 | medium | medium |
Methods & Data
Copyright © 2013
Broad Institute TCGA GDAC as part of the TCGA Research Network.
All rights reserved.