Predicted mutation
evidence seq id position mutation annotation gene description
MC JC NC_000913_3_hsa_tpiA 3,815,859 Δ82 bp [rph][rph] [rph], [rph]

Missing coverage evidence...
   seq id start end size ←reads reads→ gene description
* * ÷ NC_000913_3_hsa_tpiA 3815859 3815940 82 59 [0] [1] 60 [rph]–[rph] [rph],[rph]

New junction evidence
  seq id position reads (cov) reads (cov) score skew freq annotation gene product
* ? NC_000913_3_hsa_tpiA = 38158580 (0.000)53 (0.980) 45/258 0.2 100% pseudogene (24/48 nt) rph ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH
?NC_000913_3_hsa_tpiA 3815941 = 0 (0.000)pseudogene (609/669 nt) rph ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH

ACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCAT  >  NC_000913_3_hsa_tpiA/3815795‑3816087
                                                                                                                                                  |                                                                                                                                                  
tttaacacctgcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTc                                                                                                                                                 >  1:870320‑M2/147‑150 (MQ=255)
  taccacccgcttgataagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttaattaaaaaaaaaaaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTccc                                                                                                                                               <  2:895830‑M2/6‑1 (MQ=255)
  taacacctgcttgctaagcgcaaattcaataaactggcgctgatatggtttcacgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTccc                                                                                                                                               >  2:611298‑M2/145‑150 (MQ=255)
     cacatgcttgctaagtgtaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttatacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTg                                                                                                                                            <  2:41924‑M2/9‑1 (MQ=255)
        ctgcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCAc                                                                                                                                         <  1:685898‑M2/12‑1 (MQ=255)
          gcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACtt                                                                                                                                       >  2:149797‑M2/137‑150 (MQ=255)
             tgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCaa                                                                                                                                    <  2:870320‑M2/17‑1 (MQ=255)
              gctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAat                                                                                                                                   <  1:149797‑M2/18‑1 (MQ=255)
              gctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcaccagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAat                                                                                                                                   <  1:437748‑M2/18‑1 (MQ=255)
              gctaagcgcaaattcaataaactggcgctgatatggtttcacgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAat                                                                                                                                   <  1:611298‑M2/18‑1 (MQ=255)
                  agcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAatgatg                                                                                                                               <  1:91045‑M2/22‑1 (MQ=255)
                        aattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCg                                                                                                                         >  2:177491‑M2/123‑150 (MQ=255)
                             aagaaactggcgctgatatggtttcatgccttggcttctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTc                                                                                                                    <  2:496686‑M2/33‑1 (MQ=255)
                              atcagctggcgctgacagggtttcatgccttcgctgctcatcttatttttctacagacaaaaacaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgcgtgctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCg                                                                                                                   <  2:641021‑M2/34‑1 (MQ=255)
                                  actggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGtca                                                                                                               >  1:920548‑M2/113‑150 (MQ=255)
                                   ctggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGtcat                                                                                                              <  2:761261‑M2/39‑1 (MQ=255)
                                             tatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTACCCTCTGCGTCAAGGATGCGCCCGTCTTCGGTCATCACTACGTTc                                                                                                    <  1:506815‑M2/49‑1 (MQ=255)
                                                  tttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTc                                                                                               >  1:226473‑M2/97‑150 (MQ=255)
                                                  tttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTc                                                                                               >  2:811318‑M2/97‑150 (MQ=255)
                                                     catgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGt                                                                                            <  1:702379‑M2/57‑1 (MQ=255)
                                                      atgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTTCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGtc                                                                                           >  2:467479‑M2/93‑150 (MQ=255)
                                                       tgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGtct                                                                                          >  1:250463‑M2/92‑150 (MQ=255)
                                                              gctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGc                                                                                   >  1:1020082‑M2/85‑150 (MQ=255)
                                                               ctccttatcttcctcttctacacacaaaaaaaaggcgactcatcaggcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCa                                                                                  <  1:629651‑M2/67‑1 (MQ=255)
                                                                 cctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCaga                                                                                <  2:250463‑M2/69‑1 (MQ=255)
                                                                  ctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCagag                                                                               >  1:869135‑M2/81‑150 (MQ=255)
                                                                  ctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCa                                                                                  >  1:154171‑M2/81‑147 (MQ=255)
                                                                  ctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCa                                                                                  <  2:154171‑M2/67‑1 (MQ=255)
                                                                  ctcactttacttttctacagacaaaaaaaaggtgactcatcagtcgccttaaaaatcggtttgccagcgccgccttctgcCGTCGCCTGCCCTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCagag                                                                               <  2:858150‑M2/70‑1 (MQ=255)
                                                                      tcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTTCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCtt                                                                           <  1:467479‑M2/74‑1 (MQ=255)
                                                                       cttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTc                                                                          <  1:83368‑M2/75‑1 (MQ=255)
                                                                         tacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCaa                                                                        <  2:308543‑M2/77‑1 (MQ=255)
                                                                          acttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaagcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATTATGCTTCCTTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAAc                                                                       <  2:117510‑M2/78‑1 (MQ=255)
                                                                            ttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAatgat                                                                                                                                <  2:440810‑M2/21‑1 (MQ=255)
                                                                            ttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAatgat                                                                                                                                >  1:440810‑M2/71‑91 (MQ=255)
                                                                                   cagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGGTCATGTCGGTCTCTGCGGCAGAGTCTCCAACGTATTCCAg                                                              >  1:320917‑M2/64‑150 (MQ=255)
                                                                                    agacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTCAGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGa                                                             >  1:728762‑M2/63‑150 (MQ=255)
                                                                                        aaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGGTCGc                                                         >  2:565957‑M2/59‑150 (MQ=255)
                                                                                        aaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGc                                                         >  1:300496‑M2/59‑150 (MQ=255)
                                                                                                ggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCt                                                                            >  2:77188‑M2/51‑123 (MQ=255)
                                                                                                ggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCt                                                                            <  1:77188‑M2/73‑1 (MQ=255)
                                                                                                        atcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGtt                                         <  1:177491‑M2/108‑1 (MQ=255)
                                                                                                            gtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCAt                                                                                                  >  1:212043‑M2/39‑89 (MQ=255)
                                                                                                            gtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCAt                                                                                                  <  2:212043‑M2/51‑1 (MQ=255)
                                                                                                                 cttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTcc                                <  1:118888‑M2/117‑1 (MQ=255)
                                                                                                                  ttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCg                               >  1:641325‑M2/33‑150 (MQ=255)
                                                                                                                   taaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGa                              <  1:167340‑M2/119‑1 (MQ=255)
                                                                                                                         tcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGaaa                        >  1:340177‑M2/26‑150 (MQ=255)
                                                                                                                         tcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAAAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCGGTTCACAATTCCAACAGaaa                        >  1:922269‑M2/26‑150 (MQ=255)
                                                                                                                                  cagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCgg                                                                                                                  >  2:743675‑M2/17‑51 (MQ=255)
                                                                                                                                  cagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCgg                                                                                                                  <  1:743675‑M2/35‑1 (MQ=255)
                                                                                                                                  cagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACGGCGGCTa               >  1:255456‑M2/17‑150 (MQ=255)
                                                                                                                                    gcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTAcc             >  1:542336‑M2/15‑150 (MQ=255)
                                                                                                                                           cttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTc                                                                 <  2:206716‑M2/84‑1 (MQ=255)
                                                                                                                                           cttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTc                                                                 >  1:206716‑M2/8‑91 (MQ=255)
                                                                                                                                            ttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCttt     >  1:600298‑M2/7‑150 (MQ=255)
                                                                                                                                             tctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGCCTCCCATCCCtctc    >  2:756498‑M2/6‑150 (MQ=255)
                                                                                                                                               tgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCAt  <  2:239789‑M2/147‑1 (MQ=255)
                                                                                                                                               tgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCAt  >  2:621351‑M2/4‑150 (MQ=255)
                                                                                                                                               tGCCGTCCCCTGCACTTCAAGGATGCGCCCGTCTTCGGTCATCACTACGTTCATTCCGGTCTCTGCGGCAGAGGCTTCAACGTATTCCAGATCGCGAACCGCTTCGCCGTTCACAATCCCGACAGAAACCGCGGCTACCACCCCTCTCAt  >  1:478179/1‑150 (MQ=255)
                                                                                                                                                  |                                                                                                                                                  
ACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCAT  >  NC_000913_3_hsa_tpiA/3815795‑3816087

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: