976e5f5a2582e99913f82839e86efccdca88d814
angie
  Fri Mar 22 13:12:51 2013 -0700
Adding information from the Database of Non-Synonymous Functional Prediction(dbNSFP, https://sites.google.com/site/jpopgen/dbNSFP,
http://dbnsfp.houstonbioinformatics.org/dbNSFPzip/dbNSFP2.0.readme.txt).
dbNSFP2.0 contains precomputed predictions from a variety of tools of the
effects of all possible missense variants on protein-coding Gencode rel 9
(Ens 64) transcripts.  For example, it contains scores and predictions
from SIFT, PolyPhen2 and similar tools (MutationTaster, MutationAssessor,
LRT), as well as GERP scores at CDS positions and associated domain
information from InterPro and IDs from UniProt.  Each subset is
extracted into a bigBed or bigWig file so that users of the Variant
Annotation Integrator will be able to apply one or more of these
prediction methods to their variants.
refs #6152

diff --git src/hg/lib/dbNsfpPolyPhen2.as src/hg/lib/dbNsfpPolyPhen2.as
new file mode 100644
index 0000000..ebd5a5d
--- /dev/null
+++ src/hg/lib/dbNsfpPolyPhen2.as
@@ -0,0 +1,24 @@
+table dbNsfpPolyPhen2
+"PolyPhen2 scores provided by dbNSFP (http://dbnsfp.houstonbioinformatics.org/)"
+    (
+    string chrom;      "Reference sequence chromosome or scaffold"
+    uint   chromStart; "Start position in chromosome"
+    uint   chromEnd;   "End position in chromosome"
+    enum('A','C','G','T') refAl;       "Allele found in reference assembly"
+    string uniProtAaPos;               "Offset of changed amino acid (1-based) in UniProt sequence; can be comma-sep'd list parallel to UniProt IDs in dbNsfpUniProt"
+    enum('A','C','G','T') altAl1;  "alternate allele #1"
+    string hDivScore1;                 "Probability score for altAl1 from HumDiv training set, or '.' if n/a"
+    enum('D','P','B','.') hDivPred1;   "Prediction for altAl1 from HumDiv: Damaging, Possibly damaging, Benign, not given"
+    string hVarScore1;                 "Probability score for altAl1 from HumVar training set, or '.' if n/a"
+    enum('D','P','B','.') hVarPred1;   "Prediction for altAl1 from HumVar: Damaging, Possibly damaging, Benign, not given"
+    enum('A','C','G','T','.') altAl2;  "alternate allele #2"
+    string hDivScore2;                 "Probability score for altAl2 from HumDiv training set, or '.' if n/a"
+    enum('D','P','B','.') hDivPred2;   "Prediction for altAl2 from HumDiv: Damaging, Possibly damaging, Benign, not given"
+    string hVarScore2;                 "Probability score for altAl2 from HumVar training set, or '.' if n/a"
+    enum('D','P','B','.') hVarPred2;   "Prediction for altAl2 from HumVar: Damaging, Possibly damaging, Benign, not given"
+    enum('A','C','G','T','.') altAl3;  "alternate allele #3"
+    string hDivScore3;                 "Probability score for altAl3 from HumDiv training set, or '.' if n/a"
+    enum('D','P','B','.') hDivPred3;   "Prediction for altAl3 from HumDiv: Damaging, Possibly damaging, Benign, not given"
+    string hVarScore3;                 "Probability score for altAl3 from HumVar training set, or '.' if n/a"
+    enum('D','P','B','.') hVarPred3;   "Prediction for altAl3 from HumVar: Damaging, Possibly damaging, Benign, not given"
+    )