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 46 [0] [0] 46 [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)38 (1.030) 34/260 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

TACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATCG  >  NC_000913_3_hsa_tpiA/3815794‑3816089
                                                                                                                                                   |                                                                                                                                                    
cttaaactcgtgcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGt                                                                                                                                                    <  2:567401‑M2/3‑1 (MQ=255)
   taacacctgcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTccc                                                                                                                                                 <  1:30316‑M2/6‑1 (MQ=255)
       acctgcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGc                                                                                                                                             >  1:148343‑M2/141‑150 (MQ=255)
              tgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCaa                                                                                                                                      <  1:351314‑M2/17‑1 (MQ=255)
               gctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAat                                                                                                                                     <  1:415994‑M2/18‑1 (MQ=255)
                  aagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagttggccagcgccgccttctgcCGGCCCCTGCACTTCAatgat                                                                                                                                  >  1:423970‑M2/130‑150 (MQ=255)
                    gcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATgc                                                                                                                                >  1:84597‑M2/128‑150 (MQ=255)
                      gcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagacgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATgcgc                                                                                                                              <  2:610361‑M2/25‑1 (MQ=255)
                        aaattcaataaactggcgctgatatgggttcatgccttacctcctcctgttacttttctacggacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagccccgccttctgcCGTCCCCTGCCATTCATTGATGCGccc                                                                                                                            >  2:118393‑M2/124‑150 (MQ=255)
                           ttcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaatatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGGGCCCGTc                                                                                                                         >  2:6099‑M2/121‑150 (MQ=255)
                                  aactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggccactcatcagtcgccttaaaaatcagtttgccatcgccgccttctgcCGTCCCCTGCACTTCAATGATCCGCCCGTCTTCGGtc                                                                                                                  >  1:676576‑M2/114‑150 (MQ=255)
                                     tggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGtcatc                                                                                                               >  2:651953‑M2/111‑150 (MQ=255)
                                     tggcgctgatatggtttcatgccttcgctcctcatcttacgtttctacagacaaaaaaaaggcgaagcagcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGtcatc                                                                                                               <  1:515497‑M2/40‑1 (MQ=255)
                                              tttggtttcatgccttcgctccgcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGCTGCGCCCCTGTTAGGTCATCACTACGTTc                                                                                                      <  2:589241‑M2/49‑1 (MQ=255)
                                                      catgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGt                                                                                              >  1:697669‑M2/94‑150 (MQ=255)
                                                         gccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGtatc                                                                                           >  1:680438‑M2/91‑150 (MQ=255)
                                                         gccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGCCGGtctc                                                                                           >  1:680431‑M2/91‑150 (MQ=255)
                                                             tcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAatgat                                                                                                                                  <  1:181821‑M2/21‑1 (MQ=255)
                                                             tcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAatgat                                                                                                                                  >  2:181821‑M2/87‑107 (MQ=255)
                                                                    tcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcattttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGt                                                                                >  1:135099‑M2/80‑150 (MQ=255)
                                                                        cttacttttaaaaagaaaaaaaaaaggcggctcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTc                                                                            <  2:517731‑M2/75‑1 (MQ=255)
                                                                         ttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCa                                                                           >  1:525969‑M2/75‑150 (MQ=255)
                                                                         ttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCa                                                                           >  1:460478‑M2/75‑150 (MQ=255)
                                                                          tacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCaa                                                                          <  2:525969‑M2/77‑1 (MQ=255)
                                                                                    cagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAg                                                                >  1:451494‑M2/64‑150 (MQ=255)
                                                                                      gacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGAt                                                              <  2:460478‑M2/89‑1 (MQ=255)
                                                                                      aacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTCCGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGAt                                                              <  2:148238‑M2/89‑1 (MQ=255)
                                                                                       acaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATc                                                             >  1:676343‑M2/61‑150 (MQ=255)
                                                                                        caaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCg                                                            >  2:392934‑M2/60‑150 (MQ=255)
                                                                                        caaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGATCTCTGCGGCCGAGTCTTCAACGTATTCCCGAtcc                                                            >  2:201288‑M2/60‑149 (MQ=255)
                                                                                          aaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGCCTTCAACGTATTCCAGATCGCa                                                          >  2:638682‑M2/58‑150 (MQ=255)
                                                                                                  gcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCtt                                                  <  1:392934‑M2/101‑1 (MQ=255)
                                                                                                    gactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTc                                                 >  2:437859‑M2/48‑149 (MQ=255)
                                                                                                    gactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTc                                                 <  1:437859‑M2/102‑1 (MQ=255)
                                                                                                                   ttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCg                                 >  2:32466‑M2/33‑150 (MQ=255)
                                                                                                                     aaaaatcagtttgccagcgccgcctcctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGAc                               <  1:628941‑M2/120‑1 (MQ=255)
                                                                                                                              tttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGc                      <  2:135099‑M2/129‑1 (MQ=255)
                                                                                                                                 gccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGc                   <  2:637833‑M2/132‑1 (MQ=255)
                                                                                                                                         cgccttctgcCTTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATcc           <  1:575812‑M2/140‑1 (MQ=255)
                                                                                                                                          gccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATccc          <  1:32466‑M2/141‑1 (MQ=255)
                                                                                                                                           ccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAAAAGCTTGGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCt         >  1:306666‑M2/9‑150 (MQ=255)
                                                                                                                                            cttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCCTGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCACACCGCTTCGCCGATCACAATTCCGAAAGACACTGCTGCTACCATCCCtt        >  1:48636‑M2/8‑150 (MQ=255)
                                                                                                                                              cccgcCGGCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCTCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTc      <  2:697669‑M2/145‑1 (MQ=255)
                                                                                                                                                 gcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGCGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGCAACTGCGGCTCCCATCCCtttcctg   >  2:169633‑M2/3‑147 (MQ=255)
                                                                                                                                                 gcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATc   >  2:1412‑M2/3‑150 (MQ=255)
                                                                                                                                                  cCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATCg  >  1:307680‑M2/2‑150 (MQ=255)
                                                                                                                                                   |                                                                                                                                                    
TACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATCG  >  NC_000913_3_hsa_tpiA/3815794‑3816089

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: