Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_002947 2,695,023 A→T 10.9% Q424L (CAG→CTG)  PP_2362 → usher protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0029472,695,0230AT10.9% 147.7 / 7.7 54Q424L (CAG→CTG) PP_2362usher protein
Reads supporting (aligned to +/- strand):  ref base A (27/20);  new base T (4/2);  total (31/23)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

CTCAGTGACATGTTCACCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAAGCAGCGAACAGGTCACCCTCAGT  >  NC_002947/2694875‑2695168
                                                                                                                                                     |                                                                                                                                                 
cTCAGTGACATGTTCACCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAg                                                                                                                                                  <  2:775626/150‑1 (MQ=255)
 tCAGTGACATGTTCACCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAgg                                                                                                                                                 >  1:373292/1‑150 (MQ=255)
     tGACATGTTCACCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGcc                                                                                                                                            >  1:513166/1‑150 (MQ=255)
      gACATGTTCACCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGcc                                                                                                                                            >  2:56687/1‑150 (MQ=255)
          tGTTCACCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTg                                                                                                                                        <  1:734516/150‑1 (MQ=255)
           gTTCACCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTgg                                                                                                                                       >  2:506252/1‑150 (MQ=255)
               aCCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGCCGAGGGCCACCAGGTCGCCCTTGGCTAc                                                                                                                                   >  1:280503/1‑150 (MQ=255)
                  cTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCaa                                                                                                                                <  1:362521/150‑1 (MQ=255)
                   tGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCaac                                                                                                                               >  1:547830/1‑149 (MQ=255)
                    ggAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGCGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACATGGGCCACCAGGTCGCCCTTGGCTACCAATa                                                                                                                              <  2:656047/150‑1 (MQ=255)
                          ccACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAAcag                                                                                                                        >  2:113032/1‑150 (MQ=255)
                            aCGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACACAGGAGCAGAGATCGGCCGTGGCTACCAATACAAcagcc                                                                                                                      >  2:986232/1‑150 (MQ=255)
                                         ggAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTAGAGGGCGAAAACGGCCATCTTGTCTCCCTTTGCTACCAATACAACAGCCAGCGCATCGGCtt                                                                                                         >  1:1097638/1‑150 (MQ=255)
                                               gCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTa                                                                                                   >  1:1080625/1‑150 (MQ=255)
                                                     gCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACg                                                                                             >  2:158516/1‑150 (MQ=255)
                                                               ctgggcGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAACACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGc                                                                                   <  2:547830/150‑1 (MQ=255)
                                                                           aTGCGCGTGGGCAACTTCGGCGTGATCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTAt                                                                       <  2:239635/150‑1 (MQ=255)
                                                                               gcgTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCg                                                                   >  1:1002991/1‑150 (MQ=255)
                                                                               gcgTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAACGCAACGGCAACAACAACACCCACCCGCAACGCCATGGCGATGATGCCg                                                                   >  2:10151/1‑150 (MQ=255)
                                                                                  tGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATAGCGATTAAGCCGAcc                                                                >  1:1077384/1‑150 (MQ=255)
                                                                                    ggCAACTTCTGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCGATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTg                                                              >  2:322593/1‑150 (MQ=255)
                                                                                        aCTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGcc                                                          <  1:1120689/150‑1 (MQ=255)
                                                                                         cTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCg                                                         >  1:767645/1‑150 (MQ=255)
                                                                                          ttCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTg                                                                                         >  2:69443/1‑117 (MQ=255)
                                                                                          ttCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTg                                                                                         <  1:69443/117‑1 (MQ=255)
                                                                                           tCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCggg                                                       <  1:87103/150‑1 (MQ=255)
                                                                                             ggCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGggtg                                                     <  2:373292/150‑1 (MQ=255)
                                                                                               cGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAGAGGAGTGCTCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGACTATGCCGCCCCGAGCCgtgcggg                                                   >  1:346862/1‑144 (MQ=255)
                                                                                                  gCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGtctc                                                >  2:158172/1‑150 (MQ=255)
                                                                                                    tCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCCACCTGAGCCGGGTGGTCTccc                                              >  2:92323/1‑150 (MQ=255)
                                                                                                     cAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTcccc                                             >  1:330695/1‑150 (MQ=255)
                                                                                                      aaCGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTTCGAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCg                                            >  1:290981/1‑150 (MQ=255)
                                                                                                      aaCGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCg                                            >  2:1011300/1‑150 (MQ=255)
                                                                                                            gCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATg                                      <  1:506252/150‑1 (MQ=255)
                                                                                                              cTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGc                                                           >  1:823004/1‑127 (MQ=255)
                                                                                                              cTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGc                                                           <  2:823004/127‑1 (MQ=255)
                                                                                                               ttGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACTAGTCCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCaa                                   <  1:10151/150‑1 (MQ=255)
                                                                                                                   cgcAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGCCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGa                               <  2:767645/150‑1 (MQ=255)
                                                                                                                     cAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGc                             >  1:702778/1‑150 (MQ=255)
                                                                                                                      aaaGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCa                            <  2:1097638/150‑1 (MQ=255)
                                                                                                                              ttCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAagcagc                    <  1:1011300/150‑1 (MQ=255)
                                                                                                                              ttCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAagcagc                    >  2:629716/1‑150 (MQ=255)
                                                                                                                                 gAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAAGCAGCGaa                 >  2:801658/1‑150 (MQ=255)
                                                                                                                                    ggCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAAGCAGCGAACAg              <  1:113032/150‑1 (MQ=255)
                                                                                                                                      cGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAAGCAGCGAACAGGt            <  2:1080625/150‑1 (MQ=255)
                                                                                                                                      cGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAAGCAGCGAACAGGt            <  2:827735/150‑1 (MQ=255)
                                                                                                                                      cGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGGCTCCCCGGACATGCAACTGAGCAAAAGCAGCGAACAGGt            >  1:624918/1‑150 (MQ=255)
                                                                                                                                        ccAAGGGCGACCTGGTGGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGc                                                                     <  2:1033717/90‑1 (MQ=39)
                                                                                                                                        ccAAGGGCGACCTGGTGGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGc                                                                     >  1:1033717/2‑91 (MQ=39)
                                                                                                                                        aCAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAAGCAGCGAACAGGTCa          <  1:23404/150‑1 (MQ=255)
                                                                                                                                         cAAGGGCGACCTGGTGGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGa                               <  2:273855/128‑1 (MQ=255)
                                                                                                                                         cAAGGGCGACCTGGTGGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGa                               >  1:273855/1‑128 (MQ=255)
                                                                                                                                         cAAGGGCGACCTGGTGGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAAGCAGCGAACAGGTCAc         >  1:774963/1‑150 (MQ=255)
                                                                                                                                          aaGGGACACCCGGTCTTCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAATCAGCGAACAGGTCAcc        <  2:253248/150‑1 (MQ=255)
                                                                                                                                                ccaccaGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCgg                                                        <  1:286293/97‑1 (MQ=255)
                                                                                                                                                ccaccaGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCgg                                                        >  2:286293/1‑97 (MQ=255)
                                                                                                                                                 caccaGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAAGCAGCGAACAGGTCACCCTCAgt  <  2:280503/150‑1 (MQ=255)
                                                                                                                                                  acctGGTGGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGAt                                                                          >  1:485779/1‑77 (MQ=255)
                                                                                                                                                     |                                                                                                                                                 
CTCAGTGACATGTTCACCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAAGCAGCGAACAGGTCACCCTCAGT  >  NC_002947/2694875‑2695168

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: