Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_pgi 1,311,346 G→A 8.8% P86P (CCG→CCA tonB → membrane spanning protein in TonB‑ExbB‑ExbD transport complex

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_pgi1,311,3460GA 8.8% 107.4 / 3.6 46P86P (CCG→CCAtonBmembrane spanning protein in TonB‑ExbB‑ExbD transport complex
Reads supporting (aligned to +/- strand):  ref base G (21/21);  new base A (2/2);  total (23/23)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.94e-01

AACTACCTGCGCCTGCGCAGCCGATTTCTGTCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATACGGCACCGGCACGCCTGA  >  NC_000913_3_hsa_pgi/1311198‑1311488
                                                                                                                                                    |                                                                                                                                              
aaCTACCTGCGCCTGCGCAGCCGATTTCTGTCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACAGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCg                                                                                                                                                >  2:804447/1‑149 (MQ=255)
  cTACTTGCGCCTGCGCCGCCTATTTCTGTCAAGGTGGTTACGCCTGCTGTTCTCGAACCGCCACACGCCGTTCAGCCGCCCCCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCggt                                                                                                                                              <  2:17916/149‑1 (MQ=255)
   tACCTGCGCCCGCGCAGCCGATTTCTTTCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCggtg                                                                                                                                             <  1:669631/149‑1 (MQ=255)
     cccgagcctccggAGCCGATTGGTGGCATGATGGTCACGGCTGCGGATCGCGAAGGTCCAAAAGCCTTACAGCCGCCACCGGAGCCGGGGGCAGAGCCAGCACCGGAACCTGAGCCGAGCCCCGAACCGCCAAAAGAAGCACCggtggt                                                                                                                                           <  2:943911/144‑1 (MQ=255)
       ggcgcctgcgcAGCCGTTTTCTGTCACGATGGTTACGCCGGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCGAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCa                                                                                                                                         <  1:196606/148‑1 (MQ=255)
          gcctgcgcAGCCGATTTCTGTCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCAACGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTg                                                                                                                                      >  1:169514/1‑149 (MQ=255)
                cgaGCCGATTTCTTTCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAaagc                                                                                                                                <  1:313091/147‑1 (MQ=255)
                      ggtttCTGGCACGATGGTTCCGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAaagccgaagc                                                                                                                          <  2:522155/147‑1 (MQ=255)
                           cTGCCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTTGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGaaa                                                                                                                     <  1:926421/149‑1 (MQ=255)
                              tCACGATGGTTACGCCTGCTGATCTCGAACAGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAGCCGGAACCTAAACCTATCACCGGACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAACCCt                                                                                                                  >  2:239268/1‑149 (MQ=255)
                                aCGATGGTTCCGCCTGCTGTTTTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTaa                                                                                                                <  1:641596/149‑1 (MQ=255)
                                aCGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTaa                                                                                                                >  2:750465/1‑149 (MQ=255)
                                aCGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTaa                                                                                                                >  1:996962/1‑149 (MQ=255)
                                              tgctgATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAAACGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCGCAAACCTAGGCGAGAACCGaaac                                                                                                  >  2:536696/1‑147 (MQ=255)
                                                 tgctctcGACCCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAGCCGAAGCCgg                                                                                               <  2:930665/146‑1 (MQ=255)
                                                   aTCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGCACCTGAGCCGTTCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAACGACGAAGCCGAAACCTAAGCGAAAACAGAAGccaggg                                                                                             >  1:74435/1‑145 (MQ=255)
                                                   aTCTCGAACCGCCACAAGCCGTTCAGCCGCCACCAGCGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGAGGCCATTGAAAACCCGAAGCCGAAACCTAAACCAAAACCGAAACCGGTg                                                                                             >  2:816468/1‑149 (MQ=255)
                                                   aTCTCGAACCGCCACAAGCCGGGCAGCCGCCACCGGAGCCGGTGGGAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATGGAAAAGCCGAAGCCGAAACGTAAACCAAAACCGAAGCCgggg                                                                                             >  2:774424/1‑147 (MQ=255)
                                                     ctcGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAAAAGCACCGAGGGTCCTTGAAAAACCGGAGCCGAAACCTAAGCCACAACCCAAGCCGGTgca                                                                                           >  2:27259/1‑147 (MQ=255)
                                                        gAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAAAACCGGAACCTGAGCCGCTCCCCGAACCGCCAAAAGAAGCACAGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGgaaaa                                                                                        >  1:415351/1‑149 (MQ=255)
                                                         aaCCGTCACAAGCCCTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCAAAAAGAAGCATCGGTGGTCATTGATAAGCCGAAGCCGTAACCTAAGCCAAAACCGAAGCCGGTGAAAAAg                                                                                       <  1:793917/149‑1 (MQ=255)
                                                               aacgaggcGTGCAGTCGCCACCGGAGGCGGTGGTCGAGCCAGAACGGGAATCGGGGCCGAGCCCCGAACCGCCAAAAGGAGCACCGGTGGTCATGGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAGGTCGGTGAAAAAGGTACAg                                                                                 <  2:625682/142‑1 (MQ=255)
                                                                    gCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCAGTGGTCATTGAAaagc                                                                                                                                <  2:90296/97‑1 (MQ=255)
                                                                    gCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCAGTGGTCATTGAAaagc                                                                                                                                >  1:90296/1‑97 (MQ=255)
                                                                    gCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCAGTGGTCATTGAAaagc                                                                                                                                >  1:93991/1‑97 (MQ=255)
                                                                    gCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCAGTGGTCATTGAAaagc                                                                                                                                <  2:93991/97‑1 (MQ=255)
                                                                      cGTGCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGagcagc                                                                          <  1:838065/149‑1 (MQ=255)
                                                                                ccACCGGAGCCGGTGGTAGAGCCAGAACGCGAAACTGAGCCGATCCCCGAACCCCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGTTGAAAAAGGTACAGGAGCAGCCAAAACGCGa                                                                <  2:323634/149‑1 (MQ=255)
                                                                                ccACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAACAGGTACAGGAGCAGCCAAAACGCGa                                                                >  2:722401/1‑149 (MQ=255)
                                                                                  aCCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAACAAGGCACAGGAGCAGCCAAAACACGATg                                                              >  1:434536/1‑149 (MQ=255)
                                                                                        gCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAAc                                                        <  1:750465/149‑1 (MQ=255)
                                                                                          cGGTGTGAGACCCAGACCCACACCCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTGAGCGAAGTCCTAAGCCGGTGAAAAAGGTACTGGAGCAGCCAAAACGCGATGTCAAAccc                                                      <  1:447484/149‑1 (MQ=255)
                                                                                           ggtggtAGAGCCAGAACCGGAACTTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCg                                                     <  1:566995/149‑1 (MQ=255)
                                                                                            gtggtAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGACAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGt                                                    >  2:588642/1‑149 (MQ=255)
                                                                                               gtacggCCAGAAGCGGCACCTGAGCAGATCCGCAAACCGCCAAAAGAAGCACCGGCGGTCATTGAAATGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTaga                                                 <  2:700076/144‑1 (MQ=255)
                                                                                                 agagCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGt                                               <  1:79753/149‑1 (MQ=255)
                                                                                                  gatccAGAACCTGAACCTGAGCCGAGCCCCGCACCGCCAAAAGATGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCTGTGAAAAAGGTACAGTAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTc                                              <  1:609073/146‑1 (MQ=255)
                                                                                                  gagaCAAAACCGGACCCTGGGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAATCCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTc                                              <  1:341780/149‑1 (MQ=255)
                                                                                                    gCCAGAATCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTcgc                                            <  1:619401/149‑1 (MQ=255)
                                                                                                         aaCCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCAAAAACGCGATGTCAAAACAGTGGAGTCGCGTCCg                                       >  2:395547/1‑149 (MQ=255)
                                                                                                           ccGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGCTGCCAAACCCGTAGAGTCGCGTCCGGc                                     >  2:400495/1‑149 (MQ=255)
                                                                                                           ccGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGc                                     <  1:804447/149‑1 (MQ=255)
                                                                                                                   tGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGt                             <  1:633097/149‑1 (MQ=255)
                                                                                                                          attcccGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACGGAAGCCGGTGAAAACGGTACAGGAGCACACAAAACGCGAGGCCAAACCCGTAGAGTCGCGTCCGCCGTCACCGTTTTaaaa                      >  2:175961/4‑149 (MQ=255)
                                                                                                                             cccGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCCAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATAc                   >  1:810767/1‑149 (MQ=255)
                                                                                                                             cccGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATAc                   >  2:420318/1‑149 (MQ=255)
                                                                                                                              ccGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATAcg                  >  1:966590/1‑149 (MQ=255)
                                                                                                                                       cAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATAcggcaccggca         >  1:15290/1‑149 (MQ=255)
                                                                                                                                         aaaGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGGTTGAAAATACGGCACCGGcgcg       >  2:21413/1‑149 (MQ=255)
                                                                                                                                              cgCACCGGTGGTCATTGAGAAGCCGACGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATACGGCACCGGCACGCCCGa  <  2:14571/148‑1 (MQ=255)
                                                                                                                                                    |                                                                                                                                              
AACTACCTGCGCCTGCGCAGCCGATTTCTGTCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATACGGCACCGGCACGCCTGA  >  NC_000913_3_hsa_pgi/1311198‑1311488

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: