Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 4,126,168 C→G A209P (GCA→CCA)  priA ← Primosome factor n' (replication factor Y)

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA4,126,1680CG100.0% 127.0 / NA 38A209P (GCA→CCA) priAPrimosome factor n' (replication factor Y)
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base G (20/18);  total (20/18)

CGATTTCCGGCACCATCACCAGCGCCTGTTTGCCCTGAGCGAGCACGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGCGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGCCAGTCGCTAAACTCTGGTGTTTCACTTGCTAAATCACACAGACCTTTTTTGCGTAGCG  >  NC_000913_3_hsa_tpiA/4126027‑4126293
                                                                                                                                             |                                                                                                                             
cGATTTCCGGCACCATGACCAGCGCCTGTTTGCCCTGAGCGAGCACGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAAcg                                                                                                                        >  1:627675/1‑149 (MQ=255)
 gATTTCCGGCACCATCACCAGCGCCTGTTTGCCCTGAGCGAGCACGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAAcgg                                                                                                                       <  1:303863/149‑1 (MQ=255)
                cACCAGCGCGTGTTTACCCTGAGCGAGCACGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCgg                                                                                                        <  2:131473/149‑1 (MQ=255)
                   catcgcCTGTTTGCCCTGAGCGAGCACGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCCATGAATTGGGCCAACGGCGGTGGCCTCTTCTGTaa                                                                                                     <  2:629219/146‑2 (MQ=255)
                   caccgcCTGTATGCCCTGATCGAGCACGGTTTCCAGCACGCCCCGAAAATCCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTAt                                                                                                     <  1:316193/146‑1 (MQ=255)
                   cAGCGCCTGGTGGCCCTGAGCGAGCACGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTAt                                                                                                     <  2:273289/149‑1 (MQ=255)
                     gcgcCTGTTGGCCCTGCGCGAGCATGTTTTCCAGTACGCTGAGATAAGCCTCCGATTTACCCGAACCGGGAACGCCCGCCAGCAGCCCGCCAGAAACAGTATGTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTAttg                                                                                                   <  2:546425/149‑2 (MQ=255)
                        ccTGTTTGCCCTGAGCGAGCACGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGCATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAAt                                                                                                >  2:478555/1‑149 (MQ=255)
                         cTGTTTGCCCTGAGCGAGCACGTTTTCCAGTACGCTGAGATAAACCACCGGTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATc                                                                                               <  2:272146/149‑1 (MQ=255)
                         cTGTTTGCCCTGAGCGAGCACGTTTTCCAGTACGCGGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATc                                                                                               >  2:629280/1‑149 (MQ=255)
                            tttGCCCTGAGCGAGCACGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTCACGCCCGCCAGCAGCCAGGCAGAAAACGTATCTGCCGCGCTATGAGTTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCa                                                                                            >  2:477670/1‑149 (MQ=255)
                                 ccTGAGCGAGCACGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGcc                                                                                                               <  1:647585/125‑1 (MQ=255)
                                 ccTGAGCGAGCACGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGcc                                                                                                               >  2:647585/1‑125 (MQ=255)
                                  cTGAGCGAGCACGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAACGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCCATCGCAACCCCt                                                                                      >  1:246565/1‑149 (MQ=255)
                                            aCGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAAc                                                                            >  2:595697/1‑149 (MQ=255)
                                             cGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACg                                                                           >  1:425712/1‑149 (MQ=255)
                                                          gCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCGATCGCAACCGCTCACCAGAAACGGCATGgttcgttc                                                              >  2:624198/1‑149 (MQ=255)
                                                          gCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAgttcgttc                                                              >  1:87846/1‑149 (MQ=255)
                                                          gCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGCGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAACCGGCACActtcgttc                                                              >  2:581781/1‑149 (MQ=255)
                                                           cTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGttcgttcg                                                             <  1:462815/149‑1 (MQ=255)
                                                            tGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGc                                                            >  1:489251/1‑149 (MQ=255)
                                                            tGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACCGCATATTTCGTTCGc                                                            >  2:223914/1‑149 (MQ=255)
                                                            tGAGATAAACCGCCGTTTTCCCGGCCCCGGTAACTCCCTCACGAAGACGATGAGAAAAAGTATCTGCAGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGc                                                            <  1:346221/149‑1 (MQ=255)
                                                                    aCCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCCGAACAAATATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCACTCGCAACCGCTCACCGGCACCGGCGTAGTTCCTTCGCCAGTctct                                                    >  2:202771/1‑149 (MQ=255)
                                                                    aCCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGCCAggccct                                                    >  2:279062/1‑144 (MQ=255)
                                                                    aCCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGCCAGTCGCt                                                    >  1:445468/1‑149 (MQ=255)
                                                                       tCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGCCAGTCGCTaaa                                                 >  2:589113/1‑149 (MQ=255)
                                                                       tCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGCCAGTCGCTaaa                                                 <  2:87846/149‑1 (MQ=255)
                                                                             ttACCGGAACCGGCAACGCCCGCCATCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCACAGAGCGTTAGATTGTTCTTGTGTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGCCAGTCGCTAAACTCTgg                                           <  1:707547/149‑1 (MQ=255)
                                                                                  ggAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGCCAGTCGCTAAACTCTGGTGttt                                      <  1:670510/149‑1 (MQ=255)
                                                                                         gTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTGGCCAGTCGCTAAACTCTGGTGTTTCACTTGc                               >  1:157727/1‑149 (MQ=255)
                                                                                                 cgccAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGCCAGTCGCTAAACTCTGGTGTTTCACTTGCTAAATcac                       <  2:237870/149‑1 (MQ=255)
                                                                                                  gccAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTACTTCAGTCGCTAAACTCTGGTGTTTCACTTGCTAAATcaca                      <  1:710489/149‑1 (MQ=255)
                                                                                                  gccAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCAACAGAAACGGCATAGTTCGTTCGCCAGTCGCTAAACTCTGGTGTTTCACTTGCTAAATcaca                      <  2:627675/149‑1 (MQ=255)
                                                                                                   ccAGAAGGCAGGAAGAAAGATTAGCTGCCGTTGTATGATTTGGGCTAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGCCAGTCGCTAAACTCTGGTGTTTCACTTGCTAAATcacac                     <  2:398396/149‑1 (MQ=255)
                                                                                                              gCAGAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGCCAGTCGCTAAACTCTGGTGTTTCACTTGCTAAATCACACAGACCtttttt          >  2:373469/1‑149 (MQ=255)
                                                                                                                 gAAAAAGTATCTGCCGCGCTATGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGCCAGTCGCTAAACTCTGGTGTTTCACTTGCTAAATCACACAGACCTTTTTTGCg       >  1:96039/1‑149 (MQ=255)
                                                                                                                      aggaTCTGCCGCGCTAGGAATTGGGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGCCAGTCGCTAAACTCTGGTGTTTCACTTGCTAAATCACACAGACCTTTTTTGCGTAgcg  <  2:90918/146‑1 (MQ=255)
                                                                                                                                             |                                                                                                                             
CGATTTCCGGCACCATCACCAGCGCCTGTTTGCCCTGAGCGAGCACGTTTTCCAGTACGCTGAGATAAACCTCCGTTTTACCGGAACCGGTAACGCCCGCCAGCAGCCAGGCAGAAAAAGTATCTGCCGCGCTATGAATTGCGCCAACGGCGGTGGCCTGTTCGGTATTCAATCGCAACCGCTCACCAGAAACGGCATAGTTCGTTCGCCAGTCGCTAAACTCTGGTGTTTCACTTGCTAAATCACACAGACCTTTTTTGCGTAGCG  >  NC_000913_3_hsa_tpiA/4126027‑4126293

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: