Predicted mutation
evidence seq id position mutation freq annotation gene description
RA ACB143 5,095,398 A→T 7.4% I66F (ATC→TTC)  phhA → Phenylalanine‑4‑hydroxylase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*ACB1435,095,3980AT 7.4% 176.1 / 4.6 54I66F (ATC→TTC) phhAPhenylalanine‑4‑hydroxylase
Reads supporting (aligned to +/- strand):  ref base A (30/20);  new base T (2/2);  total (32/22)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.65e-01

GCAAGAGCATGCGGTGTGGAACACCCTGATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCAGACCTTCTTCGAATTGCTGGCCAGCAAGCGCTTTCCGGTCGCCACCTTCATCCGCACCCCGG  >  ACB143/5095265‑5095527
                                                                                                                                     |                                                                                                                                 
gcaAGAGCATGCGGTGTGGAACACCCTGATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATc                                                                                                                                 <  7:18335/136‑1 (MQ=255)
 caAGAGCATGCGGTGTGGAACACCCTGATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATca                                                                                                                                <  3:257775/136‑1 (MQ=255)
 caAGAGCATGCGGTGTGGAACACCCTGATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATca                                                                                                                                <  2:109160/136‑1 (MQ=255)
            ggTGTGGAACACCCTGATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTg                                                                                                                     >  8:56499/1‑136 (MQ=255)
            ggTGTGGAACACCCTGATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTg                                                                                                                     >  5:1907/1‑136 (MQ=255)
                   aaCACCCTGATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATca                                                                                                                                >  8:57678/1‑118 (MQ=255)
                   aaCACCCTGATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATca                                                                                                                                <  7:57678/118‑1 (MQ=255)
                   aaCACCCTGATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGcca                                                                                                              >  3:63404/1‑136 (MQ=255)
                           gATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGTTCAACAAGGTGCTGGGTGCCACCACCGGc                                                                                                      >  5:31344/1‑136 (MQ=255)
                           gATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGTTCAACAAGGTGCTGGGTGCCACCACCGGc                                                                                                      >  5:27543/1‑136 (MQ=255)
                           gATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACGAGGTGCTGGGTGCCACCACCGGc                                                                                                      >  3:149423/1‑136 (MQ=255)
                           gATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGc                                                                                                      >  1:6376/1‑136 (MQ=255)
                           gATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGc                                                                                                      >  6:184081/1‑136 (MQ=255)
                           gATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGc                                                                                                      >  5:53840/1‑136 (MQ=255)
                           gATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGc                                                                                                      >  3:98467/1‑136 (MQ=255)
                             tCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGCCCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTg                                                                                                    >  8:285037/1‑136 (MQ=255)
                             tCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTg                                                                                                    >  4:26228/1‑136 (MQ=255)
                             tCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTg                                                                                                    >  5:196157/1‑136 (MQ=255)
                             tCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTg                                                                                                    >  3:279662/1‑136 (MQ=255)
                             tCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTg                                                                                                    >  3:168589/1‑136 (MQ=255)
                                    ccAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGtt                                                                                             >  7:109840/1‑136 (MQ=255)
                                    ccAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGtt                                                                                             >  4:307192/1‑136 (MQ=255)
                                    ccAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGtt                                                                                             >  5:67615/1‑136 (MQ=255)
                                    ccAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGtt                                                                                             >  5:294726/1‑136 (MQ=255)
                                     cAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTg                                                                                            >  1:38070/1‑136 (MQ=255)
                                           aaaGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCggg                                                                                      <  1:210922/136‑1 (MQ=255)
                                                gATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCg                                                                                 >  6:110993/1‑136 (MQ=255)
                                                 aTCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCg                                                                                 <  1:232445/135‑1 (MQ=255)
                                                 aTCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCg                                                                                 <  2:234462/135‑1 (MQ=255)
                                                  tCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGgc                                                                               <  6:85844/136‑1 (MQ=255)
                                                  tCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGgc                                                                               <  6:116627/136‑1 (MQ=255)
                                                      aGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGTTCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTg                                                                           <  6:31344/136‑1 (MQ=255)
                                                      aGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGTTCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTg                                                                           <  6:27543/136‑1 (MQ=255)
                                                      aGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTg                                                                           <  2:182896/136‑1 (MQ=255)
                                                       ggCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGa                                                                          <  5:235354/136‑1 (MQ=255)
                                                       ggCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGa                                                                          <  1:316825/136‑1 (MQ=255)
                                                       ggCCGTGCGTGCCAGGAATACCTGGACGGAATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGa                                                                          <  7:208740/136‑1 (MQ=255)
                                                               gtgcCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTc                                                                  >  3:182601/1‑136 (MQ=255)
                                                               gtgcCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTc                                                                  >  8:208200/1‑136 (MQ=255)
                                                               gtgcCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTc                                                                  >  2:41555/1‑136 (MQ=255)
                                                                  ccAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCa                                                                <  4:72692/135‑1 (MQ=255)
                                                                  ccAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCa                                                                <  2:284418/135‑1 (MQ=255)
                                                                         tACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCAGACcttct                                                        <  8:126947/136‑1 (MQ=255)
                                                                               gACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCAGACCTTCTTCGaa                                                   <  2:97882/135‑1 (MQ=255)
                                                                                       cGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCAGACCTTCTTCGAATTGCTGGc                                           >  7:227789/1‑135 (MQ=255)
                                                                                         aCCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCAGACCTTCTTCGAATTGCTGGCCAg                                        >  4:309991/1‑136 (MQ=255)
                                                                                            agatGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTCCCCGGGTTCCGGCGCTGATCCCCTTCCAGACCTTCTGCGAATTGCTGCCCAGc                                       >  2:147234/4‑134 (MQ=255)
                                                                                            aGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATca                                                                                                                                >  4:64756/1‑45 (MQ=255)
                                                                                            aGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATca                                                                                                                                <  3:64756/45‑1 (MQ=255)
                                                                                            aGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCAGACCTTCTTCGAATTGCTGGCCAGc                                       >  2:147239/1‑134 (MQ=255)
                                                                                                           aTGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCAGACCTTCTTCGAATTGCTGGCCAGCAAGCGCTTTCCGGTCGc                      >  5:207852/1‑136 (MQ=255)
                                                                                                                    ttCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCAGACCTTCTTCGAATTGCTGGCCAGCAAGCGCTTTCCGGTCGCCACCTTCAt             <  6:196605/136‑1 (MQ=255)
                                                                                                                       cGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCAGACCTTCTTCGAATTGCTGGCCAGCAAGCGCTTTCCGGTCGCCACCTTCATCCg          <  1:41555/136‑1 (MQ=255)
                                                                                                                               ggCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCAGACCTTCTTCGAATTGCTGGCCAGCAAGCGCTTTCCGGTCGCCCCCTTCATCCGCACCCCg   >  6:104695/1‑135 (MQ=255)
                                                                                                                                  gagaTCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCAGACCTTCTTCGAATTGCTGGCCAGCAAGCGCTTTCCGGTCGCCACCTTCATCCGCACCCCgg  >  6:132088/1‑133 (MQ=255)
                                                                                                                                  gagaTCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCAGACCTTCTTCGAATTGCTGGCCAGCAAGCGCTTTCCGGTCGCCACCTTCATCCGCACCCCgg  >  8:213054/1‑133 (MQ=255)
                                                                                                                                     |                                                                                                                                 
GCAAGAGCATGCGGTGTGGAACACCCTGATCACCCGCCAGCTGAAAGTGATCGAAGGCCGTGCGTGCCAGGAATACCTGGACGGCATCGACCAGCTGAAATTGCCGCATGACCGCATTCCGCAACTGGGCGAGATCAACAAGGTGCTGGGTGCCACCACCGGCTGGCAGGTTGCCCGGGTTCCGGCGCTGATCCCCTTCCAGACCTTCTTCGAATTGCTGGCCAGCAAGCGCTTTCCGGTCGCCACCTTCATCCGCACCCCGG  >  ACB143/5095265‑5095527

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑