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_tpiA1,774,5760GA98.0% 153.3 / NA 50G263E (GGG→GAG) ydiBquinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (1/0);  new base A (25/24);  total (26/24)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

TCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTG  >  NC_000913_3_hsa_tpiA/1774431‑1774719
                                                                                                                                                 |                                                                                                                                               
tCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGc                                                                                                                                              >  2:185326/1‑149 (MQ=255)
  gttGGTTAATGATATCGGTCTGTTACGTCCGGGACGTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTg                                                                                                                                            <  2:152184/148‑1 (MQ=255)
      gTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGaaaa                                                                                                                                        >  2:678212/1‑147 (MQ=255)
       ttAATGATATCAGTCTGTTACGGGCTTGATTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAg                                                                                                                                       <  2:802229/149‑1 (MQ=255)
           tGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTca                                                                                                                                   <  2:119004/149‑1 (MQ=255)
                  aGTCTGTTACATTCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATg                                                                                                                            <  2:112262/149‑1 (MQ=255)
                             tCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAg                                                                                                                 >  1:610166/1‑149 (MQ=255)
                                gggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAtt                                                                                                              >  1:836168/1‑149 (MQ=255)
                                     ttCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGa                                                                                                                          >  1:697686/1‑132 (MQ=255)
                                     ttCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGa                                                                                                                          <  2:697686/132‑1 (MQ=255)
                                        tGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAGCAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTg                                                                                                      >  1:454005/1‑149 (MQ=255)
                                        tGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCctcgt                                                                                                      >  1:392492/1‑147 (MQ=255)
                                            cACTGAATGCGTGGATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAat                                                                                                  <  2:26517/149‑1 (MQ=255)
                                                       tatataACCCGCTTATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTTCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGATTCTGAACAGTTCACACTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAg                                                                                       <  2:797552/147‑1 (MQ=255)
                                                            aaCCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCAt                                                                                  >  1:433747/1‑149 (MQ=255)
                                                             aCCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATg                                                                                 <  2:257079/149‑1 (MQ=255)
                                                               ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATggg                                                                               <  2:433747/149‑1 (MQ=255)
                                                                cGCATATGACGAAGTTATTGCAGCAGGCGCAACAGGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATgggg                                                                              >  1:670262/1‑149 (MQ=255)
                                                                 gCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGt                                                                             >  2:235033/1‑149 (MQ=255)
                                                                 gCATATGACGAACTTATTGCAGCAGGCGCAACAAGCTGGATCCAAAACGATTGATGGATAACGCATGTTATTGTGGCAAGAGACTGAACCGTTCACATTATGGAATGGCCAAGGTTTGCCTCTGGACAAGTTTACACAGTTCATgcgtg                                                                             >  2:256232/1‑145 (MQ=255)
                                                                   atatGACGAAGGTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATCTTTTAAACAGGTCATGGGGTTc                                                                           >  1:521115/1‑149 (MQ=255)
                                                                       gACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATg                                                                                               >  2:279133/1‑125 (MQ=255)
                                                                       gACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATg                                                                                               <  1:279133/125‑1 (MQ=255)
                                                                        aCGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGATCATGGGGTTCGGGGc                                                                      >  1:25529/1‑149 (MQ=255)
                                                                         cGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGcc                                                                     >  2:424540/1‑149 (MQ=255)
                                                                                aTTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgg                                                              <  1:185326/149‑1 (MQ=255)
                                                                                      gcagGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGATGAACAGTTCACATTATGGACTGGCCACGATTTCCCTCAGGCATATGTTCAACAGGGCCGGGGGTTCGGTGCCTGACAAGCTGAcg                                                        >  2:454499/1‑148 (MQ=255)
                                                                                          gcgaAATAAGCGTGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCATATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGt                                                    <  2:800910/149‑1 (MQ=255)
                                                                                              aacaaGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAg                                                >  2:279017/1‑149 (MQ=255)
                                                                                              aacaaGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAAAAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAg                                                >  2:499560/1‑149 (MQ=255)
                                                                                                 aaGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                             >  1:264502/1‑149 (MQ=255)
                                                                                                             aaaGGATTGAAGGATAGGGCATAGTGTTGTGGCAAGAGTCTGAACGGTGCACGTTATGGACTGGCAAAGAGTTCCCTCTGGAATATGTTAACAAGGTGATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATg                                 <  2:809413/149‑1 (MQ=255)
                                                                                                             aaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATg                                 >  1:767392/1‑149 (MQ=255)
                                                                                                                 gATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAAAAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGaaaa                             <  1:499560/149‑1 (MQ=255)
                                                                                                                      aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGa                                                                  >  1:683526/1‑107 (MQ=255)
                                                                                                                      aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGa                                                                  <  2:683526/107‑1 (MQ=255)
                                                                                                                       tGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTaa                       <  2:836168/149‑1 (MQ=255)
                                                                                                                         gATACGGCATGTTGTTTTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACt                     <  1:538568/149‑1 (MQ=255)
                                                                                                                         gATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACt                     >  1:269500/1‑149 (MQ=255)
                                                                                                                         gATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACt                     >  1:179072/1‑149 (MQ=255)
                                                                                                                         gATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGACTGAAAGGATGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACt                     >  1:9815/1‑149 (MQ=255)
                                                                                                                             cGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTaa                 <  1:644671/149‑1 (MQ=255)
                                                                                                                              ggCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATg                                                                                 <  2:793141/84‑1 (MQ=255)
                                                                                                                              ggCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATg                                                                                 >  1:793141/1‑84 (MQ=255)
                                                                                                                               gCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTaaaa               <  1:264673/149‑1 (MQ=255)
                                                                                                                                cATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAg              <  2:179072/149‑1 (MQ=255)
                                                                                                                                cATGGTGTTGTGGTAGGAGGCTGAACAGTTCACATTATGGACTGGAAAAGATTTCCCTCTGGAATATGTTAAACAGGTAATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAg              <  2:333634/149‑1 (MQ=255)
                                                                                                                                    ttgttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtct          <  2:670262/149‑1 (MQ=255)
                                                                                                                                         gtgGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGCCATGGGGTTCGATCCCTGACAGGCTGACCGCCTGCCGAAAGGGAAAAAAATGAAAAACGTAACCGTGAAAGCTCCCGTcc     >  2:34217/1‑148 (MQ=255)
                                                                                                                                            gCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTg  <  1:678212/149‑1 (MQ=255)
                                                                                                                                                 |                                                                                                                                               
TCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTG  >  NC_000913_3_hsa_tpiA/1774431‑1774719

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑