Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 2,304,636 C→G 11.8% intergenic (+243/+472) eco → / ← mqo ecotin, a serine protease inhibitor/malate dehydrogenase, FAD/NAD(P)‑binding domain

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,304,6360CG11.8% 90.9 / 6.4 41intergenic (+243/+472)eco/mqoecotin, a serine protease inhibitor/malate dehydrogenase, FAD/NAD(P)‑binding domain
Reads supporting (aligned to +/- strand):  ref base C (17/19);  new base G (2/3);  total (19/22)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.76e-01

GCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATCTAACGCCCAAGCCGGTTGCCTGATGCGACGCTGGCGCGTCT  >  NC_000913_3_hsa_tpiA/2304487‑2304720
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gcgcGGCTTATCAGGCCTACACCGCTGTGAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTc                                                                                      <  2:155853/150‑1 (MQ=255)
     tCTTATCAGGCCTACACCGCTGTGAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTAACAGGCCTCCACCGCTGTCCAGTCCCCCAccc                                                                                 >  3:165302/1‑150 (MQ=17)
       ttATCAGGCCTACACCGCTGTGAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTTACGGAGCGGCCGAGATCCGAGGCGGGAGCCGGTTGCCTCTTACGAGTATGTCGCGGCGGATGCCGCCTACTCCACAGTAAAGTGCTCCACCCCg                                                                               >  2:240139/1‑150 (MQ=9)
        gatcggcccTACACCGCTGTGAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGt                                                                              <  4:48293/143‑1 (MQ=255)
            aGGCCTACACCGCTGTGAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGt                                                                          >  1:153398/1‑150 (MQ=255)
              gCCTACACCGCTGTGAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCg                                                                        >  1:515036/1‑150 (MQ=255)
              gCCTACACCGCTGTGAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCg                                                                        >  1:584138/1‑150 (MQ=255)
              cccTAAACCGCTGTGAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCg                                                                        <  4:29130/149‑1 (MQ=255)
                 tACACCGCTGTGAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGCTGCGAGGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGGGGTGCTCCACCCCGTAGGTCGGaa                                                                     >  2:167740/1‑149 (MQ=255)
                   aactgccgtgAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTc                                                                         >  1:2921/8‑144 (MQ=11)
                   aactgccgtgAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTc                                                                         <  2:2921/137‑1 (MQ=11)
                            gAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCTAACGCCCAAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATTAGGCCTACACCGCTGTGAAGTGCTc                                                                                      >  2:64972/1‑122 (MQ=9)
                            gAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCTAACGCCCAAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATTAGGCCTACACCGCTGTGAAGTGCTc                                                                                      <  1:64972/122‑1 (MQ=9)
                             aaGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCCCCCCGTAGGTCGGATAAGGCGGTTAcg                                                         >  3:170598/1‑150 (MQ=255)
                               gTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGCAGTGCCCCACCCCGTAGGTCGGCTAAGGCGGTTAcgcc                                                       >  1:379693/1‑150 (MQ=255)
                               gTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCGGCACCCCGTAGGTTGGATAAGGCGGTTAcgcc                                                       <  3:70656/150‑1 (MQ=255)
                                tGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGAGAACGCGGGTAcgccc                                                      >  3:215440/1‑149 (MQ=255)
                                    gCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTGCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATc                                                  >  2:553434/1‑150 (MQ=38)
                                       ccccGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGa                                               <  1:553434/150‑1 (MQ=255)
                                           gTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCACCGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATc                                           <  1:141677/150‑1 (MQ=255)
                                              ggTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATCTaa                                        <  4:165070/150‑1 (MQ=255)
                                               gTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCg                                                                               >  3:278192/1‑110 (MQ=38)
                                               gTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCg                                                                               <  4:278192/110‑1 (MQ=38)
                                               gTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTTGGATAAGGCGGTTACGCCGCATCCGACATCCAAc                                       <  2:333842/150‑1 (MQ=255)
                                                  aGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATCTAACGcc                                    >  3:300241/1‑150 (MQ=39)
                                                      aaGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCgg                                                              >  1:102808/1‑120 (MQ=38)
                                                      aaGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCgg                                                              >  4:155683/1‑120 (MQ=38)
                                                      aaGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCgg                                                              <  2:102808/120‑1 (MQ=37)
                                                       aGGCGGTCACGCCGCATCCGCCATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATCTAACGCCCAAGc                               <  1:412075/150‑1 (MQ=25)
                                                       aGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCGGCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCg                                                >  2:502004/1‑133 (MQ=12)
                                                       aGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCGGCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCg                                                <  1:502004/133‑1 (MQ=16)
                                                         gCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTa                                                           <  2:410109/120‑1 (MQ=35)
                                                         gCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTa                                                           >  1:410109/1‑120 (MQ=38)
                                                              gaCGCCGCATCCGCCGTCCAACGCCCGAGCCGGTTGCCTGATGCGCCGCTGGCGCCTCTTCTCAGGCCTACACCGCCGTGAAGTGCTGCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATCTAACGCCCAAGCCGGTTGc                        <  4:125160/149‑1 (MQ=11)
                                                               aggccgcAGCGGACATCGAGCGCCCGAGCGGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATCTAACGCCCAAGCCGGTTGcc                       <  2:230404/148‑1 (MQ=11)
                                                               aCGCCGCATCCGACATCCATCGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATCTAACGCCCAAGCCGGTTGcc                       <  3:56550/150‑1 (MQ=17)
                                                                       cccGACACCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATCTAACGCCCAAGCCGGTTGCCTGATGCGa               <  1:222922/149‑1 (MQ=17)
                                                                         ggACATCCAACGCGCGAGCCGGTTGCCTGATGCGAAGCTGGCGCGTCTTCTCAGGCCTACACCGCTGTGAAGTGCACCACCCCGTAGGTCAGATAAGGCGGTTACGCCGCATCCGACATCTAACGCCCAAGCCGGTTGCCTGATGCGACg             <  4:9846/149‑1 (MQ=11)
                                                                         cGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGt                                                             >  4:76455/1‑102 (MQ=33)
                                                                          gACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTc                                                                         >  2:251423/1‑89 (MQ=35)
                                                                          gACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTc                                                                         <  1:251423/89‑1 (MQ=35)
                                                                             aTCCAACGCCCGCGCCGGTTGCCCGATGCGCTGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATCTAACGCCCAAGCCGGTTGCCTGATGCGACGCTgg         <  4:165302/150‑1 (MQ=255)
                                                                                  ccGCCCGCGCCGCTTGCCTGATGCGTCGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATCTAACGCCCAAGCCGGTTGCCTGATGCGACGCTGGCGCGt    <  4:308845/149‑1 (MQ=12)
                                                                                    gCCCGTGCCGGTTGCGGGATGCGACGCTGGCGCGTCTGATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATCTAACGCCCAAGCCGGTTGCCTGATGCGACGCTGGCGCGTCt  <  2:268708/150‑1 (MQ=9)
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GCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCGGCACCCCGTAGGTCAGACAAGGCGGTCACGCCGCATCCGACATCCAACGCCCGAGCCGGTTGCCTGATGCGACGCTGGCGCGTCTTATCAGGCCTACACCGCTGTGAAGTGCTCCACCCCGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATCTAACGCCCAAGCCGGTTGCCTGATGCGACGCTGGCGCGTCT  >  NC_000913_3_hsa_tpiA/2304487‑2304720

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑