Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 1,774,576 G→A G263E (GGG→GAG)  ydiB → quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,774,5760GA98.2% 174.1 / NA 55G263E (GGG→GAG) ydiBquinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (1/0);  new base A (30/24);  total (31/24)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.99e-01

ATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTG  >  NC_000913_3_hsa_tpiA/1774433‑1774719
                                                                                                                                               |                                                                                                                                               
aTTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTg                                                                                                                                            >  2:709849/1‑149 (MQ=255)
     ttAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAg                                                                                                                                       >  1:137932/1‑149 (MQ=255)
      tAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACACGCATATGACGAAGTTATTGCAGCAGGCGCAACACGCTGGTTGCAAGACGATTGATGGATACGGCATGTTGTTGTGGCAACAGGATGAAAAGt                                                                                                                                      >  2:417613/1‑149 (MQ=255)
       aaTGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGtt                                                                                                                                     <  2:503298/149‑1 (MQ=255)
        aTGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTc                                                                                                                                    <  1:742590/149‑1 (MQ=255)
           taatCAGTCTGTTACATCCGGGACTTCTGGTAACTGAATGCGTGTATAACACGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTcaca                                                                                                                                 <  2:2077/147‑1 (MQ=255)
           atatCAGTCTGTTACAACCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTTTGGCAAGAGGATGAACAATTcaaa                                                                                                                                 >  2:322120/1‑147 (MQ=255)
             ctCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACAtt                                                                                                                               >  1:863982/2‑149 (MQ=255)
             atCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACAtt                                                                                                                               >  2:466234/1‑149 (MQ=255)
             atCAGTCTGCTACATCCGAGACTGCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCCTGTTGTTGTGGCCAGAGGCTGAACAGTTCACttt                                                                                                                               >  2:322934/1‑149 (MQ=255)
               cAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTAt                                                                                                                             <  1:748244/149‑1 (MQ=255)
                   cTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGAc                                                                                                                         <  1:54179/149‑1 (MQ=255)
                      ttACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCTACAAGCTGATTGCAAAACAACCGATGGACACGGCATGTTGTTGTGGGAAAGGGATGACGAGTTCACATTATGGACTgg                                                                                                                      >  1:601576/1‑149 (MQ=255)
                       tACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGc                                                                                                                     <  2:232076/149‑1 (MQ=255)
                        aCATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGGCTGGCa                                                                                                                    >  1:206996/1‑149 (MQ=255)
                                 gtttCGGGTCAGTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGGAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTcc                                                                                                           <  2:527421/147‑1 (MQ=255)
                                 aCTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTcc                                                                                                           <  2:213210/149‑1 (MQ=255)
                                     cTGGTCACTGAATGCGTGTATAACCCGCGTATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACAt                                                                                                                                >  2:554088/1‑124 (MQ=255)
                                     cTGGTCACTGAATGCGTGTATAACCCGCGTATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACAt                                                                                                                                <  1:554088/124‑1 (MQ=255)
                                           agtcaaTGCGTGTATAACCGGCATATGACGAAGTTATTGCAGCAGGCGCAACTAGCTGGTTGCAAAACGATTGATGGAGACGGCGTGGTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAATGATTTCGATTTGGAata                                                                                                 <  2:720997/145‑1 (MQ=255)
                                                     tgtATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAACCAg                                                                                       >  2:85505/1‑149 (MQ=255)
                                                           acacGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCGTg                                                                                 <  2:419201/146‑1 (MQ=255)
                                                                cATATGACGAAGTTATTGCAGCAGGGGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATCCCCCGCTGGAATATGTTAAACAGGTCATGGGGtt                                                                            <  2:189585/149‑1 (MQ=255)
                                                                  tatGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCg                                                                          >  2:356344/1‑149 (MQ=255)
                                                                     gACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTg                                                                       >  1:555533/1‑149 (MQ=255)
                                                                          aGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAat                                                                                                  >  1:151377/1‑117 (MQ=255)
                                                                          aGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAat                                                                                                  <  2:151377/117‑1 (MQ=255)
                                                                              aTTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAAc                                                                                                                                         <  1:852469/74‑1 (MQ=255)
                                                                              aTTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAAc                                                                                                                                         >  2:852469/1‑74 (MQ=255)
                                                                                 gcagcaGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAata                                                                                                 >  1:539038/1‑111 (MQ=255)
                                                                                 gcagcaGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAata                                                                                                 <  2:539038/111‑1 (MQ=255)
                                                                                        gcgcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTTTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTTGACTATGTTAAGCAGGTCGTGGGGTTCGGTGCCTGACAGGCTGACcgccc                                                    >  2:794668/1‑147 (MQ=255)
                                                                                        gcgcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACcgctt                                                    >  2:354549/1‑147 (MQ=255)
                                                                                                          aaaaAGGTTGATGGATACGGGGTGTTGGTGTGGCACGAGGCTGAGCAGCTCAGAGGTGGGATTGTCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAAt                                  <  2:360041/149‑1 (MQ=255)
                                                                                                             aCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTAGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGaa                               >  1:255346/1‑149 (MQ=255)
                                                                                                                aTTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGCAAGAGTAAAAAATGAAAAc                            >  2:789102/1‑149 (MQ=255)
                                                                                                                    aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTaaa                                                                                          >  1:281056/1‑83 (MQ=255)
                                                                                                                    aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTaaa                                                                                          <  2:281056/83‑1 (MQ=255)
                                                                                                                    aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAAc                                                                                         >  1:257606/1‑84 (MQ=255)
                                                                                                                    aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAAc                                                                                         <  2:257606/84‑1 (MQ=255)
                                                                                                                    aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTa                        >  1:368238/1‑149 (MQ=255)
                                                                                                                     tGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATCATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgg                                                              <  2:390933/110‑1 (MQ=255)
                                                                                                                     tGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATCATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgg                                                              >  1:390933/1‑110 (MQ=255)
                                                                                                                        aTACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                             >  1:291910/1‑124 (MQ=255)
                                                                                                                        aTACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                             <  2:291910/124‑1 (MQ=255)
                                                                                                                               aTGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgg                                                              <  2:566412/100‑1 (MQ=255)
                                                                                                                               aTGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgg                                                              >  1:566412/1‑100 (MQ=255)
                                                                                                                                tgttgttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTAGGTGACTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAt            <  1:466234/149‑1 (MQ=255)
                                                                                                                                 gttgttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATAGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtc           >  2:565328/1‑149 (MQ=255)
                                                                                                                                   tgttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGTTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtctc         <  1:356344/149‑1 (MQ=255)
                                                                                                                                   tgttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtctc         <  1:715634/149‑1 (MQ=255)
                                                                                                                                     ttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGt       >  1:426152/1‑149 (MQ=255)
                                                                                                                                       gtgGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCa     >  2:482822/1‑149 (MQ=255)
                                                                                                                                        tgGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCAt    >  1:837255/1‑149 (MQ=255)
                                                                                                                                          gCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGATTCCCATTTTTAGGAAAGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGGCATTg  >  1:201128/1‑149 (MQ=255)
                                                                                                                                               |                                                                                                                                               
ATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTG  >  NC_000913_3_hsa_tpiA/1774433‑1774719

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: ‑