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 42 [0] [0] 42 [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 (1.200) 32/260 0.1 100% 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

GGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATC  >  NC_000913_3_hsa_tpiA/3815809‑3816088
                                                                                                                                    |                                                                                                                                                   
gccaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCaa                                                                                                                                     <  1:497045‑M2/17‑1 (MQ=255)
  taagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagccaaaaaaaaggcgcctcatccgtcgccttaaaaaacaatttaccagcgccgccttctacCGTCCCCTGCACTTCAatg                                                                                                                                   >  1:155271‑M2/131‑149 (MQ=255)
                  aaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCgg                                                                                                                   >  2:399960‑M2/115‑149 (MQ=255)
                    actggcgctgatattgtttcatgccttcgctcctcatcttacttttctaaagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGtc                                                                                                                 <  2:112675‑M2/37‑1 (MQ=255)
                    actggcgctgatagggttccatgccttcgctcctcatctaggctttatatagacaaaaaaaaggggactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGtc                                                                                                                 <  2:428429‑M2/37‑1 (MQ=255)
                         gcgctgatatggtttcatgccttcgctcctcatcttactttgctacagacaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccaccttctgcCGTCCCCTGCACTTCAATGATGTGCCCGTCTTCGGTCATCAc                                                                                                            >  1:169758‑M2/108‑149 (MQ=255)
                               tatgggtgcatgccttcgtgcctaatcttacttatctaaaaaaaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGtt                                                                                                      <  2:196256‑M2/48‑1 (MQ=255)
                                atggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagtgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTc                                                                                                     >  2:465377‑M2/101‑149 (MQ=255)
                                   gtttcatgccttcgctcctcatcttacttttctacggacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATg                                                                                                  >  1:483846‑M2/98‑149 (MQ=255)
                                     ttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTc                                                                                                >  1:96289‑M2/96‑149 (MQ=255)
                                      tcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCg                                                                                               >  2:470457‑M2/95‑149 (MQ=255)
                                            cttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCg                                                                                                                    <  1:223435‑M2/34‑1 (MQ=255)
                                            cttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCg                                                                                                                    >  2:223435‑M2/89‑122 (MQ=255)
                                                 cacctcatcttacttttctacagacaaaaaaaaggcgactcatcactcgccttagaaatgattgggccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTCCGTTCATGTCGGTCTCTGCGGc                                                                                    >  1:121625‑M2/84‑149 (MQ=255)
                                                         cttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCtt                                                                            >  2:438109‑M2/76‑149 (MQ=255)
                                                          ttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTc                                                                           <  2:478079‑M2/75‑1 (MQ=255)
                                                            actttttgacagacaaaaaaaaggcgactcatcagtcgccttaaaaatctgtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCaa                                                                         <  2:231135‑M2/77‑1 (MQ=255)
                                                              ttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACg                                                                       >  1:3904‑M2/71‑149 (MQ=255)
                                                                ttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgacagcgccgccttctgcCGTCGCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCCCTACGTTCATATCGGTCTCTGCCGCTGAGTCTTCAacgga                                                                     >  2:128657‑M2/69‑147 (MQ=255)
                                                                     cagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCCATGATGCGCCCGTCTTCGGTAATCCCTACGTTCATGTCGGTCTCTGCGGCAGATACTTCAAAGTATGCCa                                                                >  1:570080‑M2/64‑149 (MQ=255)
                                                                     cagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCa                                                                <  1:470457‑M2/86‑1 (MQ=255)
                                                                       gacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCaga                                                                                 <  1:390291‑M2/69‑1 (MQ=255)
                                                                       gacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCaga                                                                                 >  2:390291‑M2/62‑130 (MQ=255)
                                                                       gacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGa                                                              >  1:343499‑M2/62‑149 (MQ=255)
                                                                        acaaacaagaggcgcctcctccgccgccttaaaaatccgtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACCTTCATGTCGGTCTTTGCGGCAGAGTCTTCAACGTATTCCAGAt                                                             <  2:593386‑M2/89‑1 (MQ=255)
                                                                         caaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATc                                                            >  2:367075‑M2/60‑149 (MQ=255)
                                                                            aaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCa                                                         >  2:395956‑M2/57‑149 (MQ=255)
                                                                                        tcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGcc                                             >  1:470228‑M2/45‑149 (MQ=255)
                                                                                          atcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCa                                                                <  2:355656‑M2/86‑1 (MQ=255)
                                                                                          atcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCa                                                                >  1:355656‑M2/43‑128 (MQ=255)
                                                                                          atcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTAGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCACCAACCGCTTCGCCGt                                           >  2:563821‑M2/43‑149 (MQ=255)
                                                                                            cagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTc                                         <  1:95967‑M2/109‑1 (MQ=255)
                                                                                                  ccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAACCCGCTTCGCCGTTCACAAtt                                   >  1:289110‑M2/35‑149 (MQ=255)
                                                                                                      aaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGCCTTCAACGTATTCCAGATCGCAACCCGCTTCGCCGTTCACAATTCCGa                               <  1:517643‑M2/119‑1 (MQ=255)
                                                                                                         aatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTGTTCCAGATCGCAAACCGCTTCGCCGTTCACAAtttcgcacg                            >  1:375772‑M2/28‑145 (MQ=255)
                                                                                                                ttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGc                     <  2:96289‑M2/129‑1 (MQ=255)
                                                                                                                ttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGc                     <  2:155271‑M2/129‑1 (MQ=255)
                                                                                                                  gccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCgg                   <  2:289110‑M2/131‑1 (MQ=255)
                                                                                                                           gccttctgcCGTCCCCTGAACTTCAATGATGCGCCCGCCTTCGGGCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATcc          <  2:3904‑M2/140‑1 (MQ=255)
                                                                                                                            ccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATccc         >  1:455515‑M2/9‑149 (MQ=255)
                                                                                                                             cttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCt        <  2:483846‑M2/142‑1 (MQ=255)
                                                                                                                                   cCGTCCGCTGCACTTCAATACTGCGCCCGTCTTCGGCCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGACTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATc  <  1:237338‑M2/148‑1 (MQ=255)
                                                                                                                                    |                                                                                                                                                   
GGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATC  >  NC_000913_3_hsa_tpiA/3815809‑3816088

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: