|
0
|
1 #o_acc o_pos o_aa1 o_aa2 rsid acc pos aa1 aa2 nt1 nt2 prediction based_on effect pph2_class pph2_prob pph2_FPR pph2_TPR pph2_FDR site region PHAT dScore Score1 Score2 MSAv Nobs Nstruct Nfilt PDB_id PDB_pos PDB_ch ident length NormASA SecStr MapReg dVol dProp B-fact H-bonds AveNHet MinDHet AveNInt MinDInt AveNSit MinDSit Transv CodPos CpG MinDJxn PfamHit IdPmax IdPSNP IdQmin
|
|
|
2 Q92889 706 I T rs1800069 Q92889 706 I T T C probably damaging alignment ? deleterious 1 0.00026 0.00018 0.0109 NO NO ? +2.055 -1.216 -3.271 2 52 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 0 1 0 -100 PF02732.10 0.730 ? 14.63
|
|
|
3 Q92889 875 E G rs1800124 Q92889 875 E G A G possibly damaging alignment ? deleterious 0.937 0.0566 0.801 0.0874 NO NO ? +1.645 -1.600 -3.245 2 51 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 0 1 0 -607 NO 3.009 ? 63.97
|
|
|
4 XRCC1_HUMAN 399 R Q rs25487 P18887 399 R Q G A probably damaging alignment ? deleterious 0.979 0.0411 0.755 0.0687 NO NO ? +1.579 -1.999 -3.578 2 86 20 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 0 1 1 +4 NO 2.498 ? 46.92
|
|
|
5 NP_005792 59 L P rs3390 P41567 59 L P T C possibly damaging structure 1.1.1 deleterious 0.895 0.0631 0.82 0.0945 NO NO ? +1.235 -1.254 -2.489 2 104 4 1 2if1 72 A 1.00 113 0.007 H A -55 1.07 0.00 ? ? ? ? ? ? ? 0 1 0 +20 PF01253.17 45.533 45.533 92.04
|
|
|
6 rs1799931 ? ? ? rs1799931 P11245 286 G E G A benign alignment ? neutral 0.317 0.112 0.903 0.144 NO NO ? +1.145 -2.309 -3.454 2 59 20 2 2pfr 286 A 1.00 289 0.172 S l 78 0.75 -0.03 ? ? ? ? ? ? ? 0 1 0 -863 NO 8.156 ? 82.41
|
|
|
7 Q7RTX0 191 R H ? Q7RTX0 191 R H G A probably damaging alignment ? deleterious 0.998 0.0112 0.273 0.0274 NO NO ? +2.547 -1.839 -4.386 2 57 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 0 1 1 -164 PF01094.23 2.232 ? 72.89 # chr1:1267483|GA|uc010nyk.1+|TAS1R3|NP_689414
|
|
|
8 Q9BRK5 190 D E ? Q9BRK5 190 D E T G possibly damaging alignment ? neutral 0.454 0.0996 0.889 0.132 NO NO ? +0.793 -1.779 -2.572 2 87 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 2 0 +8 NO 7.550 7.550 41.99 # chr1:1158631|AC|uc001adh.3-|SDF4|NP_057260
|
|
|
9 Q9BRK5 190 D E ? Q9BRK5 190 D E T A possibly damaging alignment ? neutral 0.454 0.0996 0.889 0.132 NO NO ? +0.793 -1.779 -2.572 2 87 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 2 0 +8 NO 7.550 7.550 41.99 # chr1:1158631|AT|uc001adh.3-|SDF4|NP_057260
|
|
|
10 Q9BRK5-6 190 D E ? Q9BRK5-6 190 D E T G probably damaging alignment ? deleterious 0.998 0.0112 0.273 0.0274 ? ? ? +1.566 -1.300 -2.866 2 46 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 2 0 +8 ? 2.573 ? 36.21 # chr1:1158631|AC|uc001adi.3-|SDF4|NP_057631
|
|
|
11 Q9BRK5-6 190 D E ? Q9BRK5-6 190 D E T A probably damaging alignment ? deleterious 0.998 0.0112 0.273 0.0274 ? ? ? +1.566 -1.300 -2.866 2 46 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 2 0 +8 ? 2.573 ? 36.21 # chr1:1158631|AT|uc001adi.3-|SDF4|NP_057631
|
|
|
12 Q9BRK5 190 D E ? Q9BRK5 190 D E T G possibly damaging alignment ? neutral 0.454 0.0996 0.889 0.132 NO NO ? +0.793 -1.779 -2.572 2 87 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 2 0 -580 NO 7.550 7.550 41.99 # chr1:1158631|AC|uc001adj.1-|SDF4|
|
|
|
13 Q9BRK5 190 D E ? Q9BRK5 190 D E T A possibly damaging alignment ? neutral 0.454 0.0996 0.889 0.132 NO NO ? +0.793 -1.779 -2.572 2 87 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 2 0 -580 NO 7.550 7.550 41.99 # chr1:1158631|AT|uc001adj.1-|SDF4|
|
|
|
14 Q9BRK5 190 D E ? Q9BRK5 190 D E T G possibly damaging alignment ? neutral 0.454 0.0996 0.889 0.132 NO NO ? +0.793 -1.779 -2.572 2 87 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 2 0 +8 NO 7.550 7.550 41.99 # chr1:1158631|AC|uc009vjv.2-|SDF4|NP_057260
|
|
|
15 Q9BRK5 190 D E ? Q9BRK5 190 D E T A possibly damaging alignment ? neutral 0.454 0.0996 0.889 0.132 NO NO ? +0.793 -1.779 -2.572 2 87 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 2 0 +8 NO 7.550 7.550 41.99 # chr1:1158631|AT|uc009vjv.2-|SDF4|NP_057260
|
|
|
16 ## Sources:
|
|
|
17 ## Predictions: PolyPhen-2 v2.2.2r398
|
|
|
18 ## Sequences: UniProtKB/UniRef100 Release 2011_12 (14-Dec-2011)
|
|
|
19 ## Structures: PDB/DSSP Snapshot 03-Jan-2012 (78304 Structures)
|
|
|
20 ## Genes: UCSC MultiZ46Way GRCh37/hg19 (08-Oct-2009)
|
