Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_002947 2,307,317 A→T 9.4% L119Q (CTG→CAG)  PP_2029 ← von Willebrand factor type A domain‑containing protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0029472,307,3170AT 9.4% 151.6 / 6.4 53L119Q (CTG→CAG) PP_2029von Willebrand factor type A domain‑containing protein
Reads supporting (aligned to +/- strand):  ref base A (24/24);  new base T (2/3);  total (26/27)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.27e-01

CGATCTGCGCCTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAGCGGCGGCGCACAG  >  NC_002947/2307171‑2307465
                                                                                                                                                   |                                                                                                                                                    
cGATCTGCGCCTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGt                                                                                                                                                   >  2:691260/1‑150 (MQ=255)
      gcgcCTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAggc                                                                                                                                             >  1:469242/1‑150 (MQ=255)
       cgcCTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAggcg                                                                                                                                            >  1:1113924/1‑150 (MQ=255)
        gcCTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAggcgg                                                                                                                                           <  2:578340/150‑1 (MQ=255)
          cTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCt                                                                                                                                         <  1:1139057/150‑1 (MQ=255)
          cTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCAATCAG‑CGCCTTGACCAGGTCGAggcgtct                                                                                                                                         >  1:220062/1‑147 (MQ=255)
            cAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTgc                                                                                                                                       <  2:977867/150‑2 (MQ=255)
            cAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTCGACCTGGTCAAGGC‑GCTGAt                                                                                                                                      <  2:1403694/150‑1 (MQ=255)
             aaTGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAGCCGCCTCGACCTGGTCAAGGC‑GCTGAt                                                                                                                                      >  1:47874/1‑150 (MQ=255)
              aTGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATg                                                                                                                                     >  1:1128804/1‑150 (MQ=255)
                gAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAGCCGCCTCGACCTGGTCAAGGC‑GCTGATggg                                                                                                                                   <  2:47874/150‑3 (MQ=38)
                   gAAGGTGCACACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTc                                                                                                                                >  1:647553/1‑150 (MQ=255)
                                gTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGc                                                                                                                   <  2:1095781/150‑1 (MQ=255)
                                     ccGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTc                                                                                                              >  2:854608/1‑150 (MQ=255)
                                      cGGTCAAAAGTCATCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCg                                                                                                             <  1:1286883/150‑1 (MQ=255)
                                        gTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGCACAGGATCAGGCCCACGCGGTCGCATCGCCGGTCTTGCAGGAAGTCGACCCTCAG‑CGCCTTGAACATGTCGAGGCGGCTGGTGTCTTCGGTCTGCCACTGCATGTCggg                                                                                                           <  2:162678/150‑1 (MQ=255)
                                        gTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCggg                                                                                                           <  1:733469/150‑1 (MQ=255)
                                          cAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTCGACCTGGTCAAggc                                                                                                                                             >  2:253413/1‑114 (MQ=255)
                                          cAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTCGACCTGGTCAAggc                                                                                                                                             <  1:253413/114‑1 (MQ=255)
                                                tGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCATATCTAGGCGGCTTGTGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCa                                                                                                   <  1:27612/150‑1 (MQ=255)
                                                  aGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATc                                                                                                 <  2:469242/150‑1 (MQ=255)
                                                  aGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATc                                                                                                 <  1:691260/150‑1 (MQ=255)
                                                      gcgcCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGGCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGAcc                                                                                             >  2:1010939/1‑150 (MQ=255)
                                                       cgcCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGAccc                                                                                            <  2:876093/150‑1 (MQ=255)
                                                              aGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACg                                                                                     <  2:498240/150‑1 (MQ=255)
                                                                  aGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCa                                                                                 >  1:919212/1‑150 (MQ=255)
                                                                    gCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCAcc                                                                               <  1:795948/150‑1 (MQ=255)
                                                                               gAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGTTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGaa                                                                                                        >  1:811199/1‑114 (MQ=255)
                                                                               gAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGaa                                                                                                        <  2:811199/114‑1 (MQ=255)
                                                                                 aCAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGt                                                                  >  1:908647/1‑150 (MQ=255)
                                                                                 aCAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGt                                                                  >  1:908507/1‑150 (MQ=255)
                                                                                       tCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGc                                                            >  2:785369/1‑150 (MQ=255)
                                                                                             ccACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTgg                                                      <  2:647553/150‑1 (MQ=255)
                                                                                                cgcgGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTggcgg                                                   <  2:1128804/150‑1 (MQ=255)
                                                                                                     tCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACcagca                                                                     >  2:359326/1‑127 (MQ=255)
                                                                                                     tCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACcagca                                                                     <  1:359326/127‑1 (MQ=255)
                                                                                                           tCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCAcc                                        >  1:4053/1‑150 (MQ=255)
                                                                                                                   ttGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGCTTGCGGCCGCTGGCGGCGATCGGCACCGGTTCGcc                                >  2:337516/1‑150 (MQ=255)
                                                                                                                      cAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCCCCCCCAGCAGATCGCGGCCGCTGGCGGCCATCGGCACCGGTTCGCCCAg                             >  2:431960/1‑150 (MQ=255)
                                                                                                                         gAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGac                                                                                        >  1:967212/1‑88 (MQ=255)
                                                                                                                         gAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGac                                                                                        <  2:967212/88‑1 (MQ=255)
                                                                                                                         gAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGcccgcaat                          >  2:97051/1‑145 (MQ=255)
                                                                                                                           aGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCAtt                        >  2:1358408/1‑150 (MQ=255)
                                                                                                                               gCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCgg                    <  2:919212/150‑1 (MQ=255)
                                                                                                                                cccATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCggg                   >  1:1229923/1‑150 (MQ=255)
                                                                                                                                       g‑cgcCTTGACCAGGTCGAGGCGTCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAgcgg            <  2:220062/150‑1 (MQ=255)
                                                                                                                                            cTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAgcggcggc        <  1:431960/150‑1 (MQ=255)
                                                                                                                                            cTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAgcggcggc        <  1:785369/150‑1 (MQ=255)
                                                                                                                                             ttGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAgcggcggcg       >  1:699100/1‑150 (MQ=255)
                                                                                                                                                aCCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAGCGGCGGCGcac    <  2:1113924/150‑1 (MQ=255)
                                                                                                                                                 ccAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAgc              >  2:119847/1‑139 (MQ=255)
                                                                                                                                                 ccAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAgc              <  1:119847/139‑1 (MQ=255)
                                                                                                                                                  cAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGCTCGGCCGCGGGTCGCCCAGCCGTTGCGGGCGAGCGGCGGCGCAcag  >  1:672267/1‑150 (MQ=255)
                                                                                                                                                   |                                                                                                                                                    
CGATCTGCGCCTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAGCGGCGGCGCACAG  >  NC_002947/2307171‑2307465

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑