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

GCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGC  >  NC_000913_3_hsa_tpiA/3815727‑3816006
                                                                                                                                   |                                                                                                                                                    
gccaagcgCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaa                                                                                                                                     <  1:497045‑M1/146‑18 (MQ=255)
  tAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGCCAAAAAAAAGGCGCCTCATCCGTCGCCTTAAAAAACAATTTACCAGCGCCGCCTTCTACcgtcccctgcacttcaatg                                                                                                                                   >  1:155271‑M1/1‑130 (MQ=255)
                  aaaCTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcgg                                                                                                                   >  2:399960‑M1/1‑114 (MQ=255)
                    aCTGGCGCTGATATTGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTAAAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtc                                                                                                                 <  2:112675‑M1/149‑38 (MQ=255)
                    aCTGGCGCTGATAGGGTTCCATGCCTTCGCTCCTCATCTAGGCTTTATATAGACAAAAAAAAGGGGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtc                                                                                                                 <  2:428429‑M1/149‑38 (MQ=255)
                        gcgcTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTGCTACAGACAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCACCTTCTGCcgtcccctgcacttcaatgatgtgcccgtcttcggtcatcac                                                                                                            >  1:169758‑M1/1‑107 (MQ=255)
                               tatGGGTGCATGCCTTCGTGCCTAATCTTACTTATCTAAAAAAAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgtt                                                                                                      <  2:196256‑M1/149‑49 (MQ=255)
                                atGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGTGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttc                                                                                                     >  2:465377‑M1/1‑100 (MQ=255)
                                   gTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACGGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatg                                                                                                  >  1:483846‑M1/1‑97 (MQ=255)
                                     ttCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtc                                                                                                >  1:96289‑M1/1‑95 (MQ=255)
                                      tCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcg                                                                                               >  2:470457‑M1/1‑94 (MQ=255)
                                            cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcg                                                                                                                    <  1:223435‑M1/122‑35 (MQ=255)
                                            cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcg                                                                                                                    >  2:223435‑M1/1‑88 (MQ=255)
                                                 cacctcatCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCACTCGCCTTAGAAATGATTGGGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactccgttcatgtcggtctctgcggc                                                                                    >  1:121625‑M1/3‑83 (MQ=255)
                                                         cTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtctt                                                                            >  2:438109‑M1/1‑75 (MQ=255)
                                                          ttACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttc                                                                           <  2:478079‑M1/149‑76 (MQ=255)
                                                            aCTTTTTGACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCTGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaa                                                                         <  2:231135‑M1/149‑78 (MQ=255)
                                                              ttttCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacg                                                                       >  1:3904‑M1/1‑70 (MQ=255)
                                                                ttCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGACAGCGCCGCCTTCTGCcgtcgcctgcacttcaatgatgcgcccgtcttcggtcatccctacgttcatatcggtctctgccgctgagtcttcaacgga                                                                     >  2:128657‑M1/1‑68 (MQ=255)
                                                                     cAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttccatgatgcgcccgtcttcggtaatccctacgttcatgtcggtctctgcggcagatacttcaaagtatgcca                                                                >  1:570080‑M1/1‑63 (MQ=255)
                                                                     cAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattcca                                                                <  1:470457‑M1/149‑87 (MQ=255)
                                                                       gACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccaga                                                              >  1:343499‑M1/1‑61 (MQ=255)
                                                                       gACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcaga                                                                                 >  2:390291‑M1/1‑61 (MQ=255)
                                                                       gACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcaga                                                                                 <  1:390291‑M1/130‑70 (MQ=255)
                                                                        acaaacaaGAGGCGCCTCCTCCGCCGCCTTAAAAATCCGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactaccttcatgtcggtctttgcggcagagtcttcaacgtattccagat                                                             <  2:593386‑M1/149‑90 (MQ=255)
                                                                         cAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatc                                                            >  2:367075‑M1/1‑59 (MQ=255)
                                                                            aaaaaaGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgca                                                         >  2:395956‑M1/1‑56 (MQ=255)
                                                                                        tcatcaGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgcc                                             >  1:470228‑M1/1‑44 (MQ=255)
                                                                                          atcaGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattcca                                                                <  2:355656‑M1/128‑87 (MQ=255)
                                                                                          atcaGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattcca                                                                >  1:355656‑M1/1‑42 (MQ=255)
                                                                                          atcaGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttaggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcaccaaccgcttcgccgt                                           >  2:563821‑M1/1‑42 (MQ=255)
                                                                                            caGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttc                                         <  1:95967‑M1/149‑110 (MQ=255)
                                                                                                  ccTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaacccgcttcgccgttcacaatt                                   >  1:289110‑M1/1‑34 (MQ=255)
                                                                                                      aaaaaTCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagccttcaacgtattccagatcgcaacccgcttcgccgttcacaattccga                               <  1:517643‑M1/149‑120 (MQ=255)
                                                                                                         aaTCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtgttccagatcgcaaaccgcttcgccgttcacaatttcgcacg                            >  1:375772‑M1/1‑27 (MQ=255)
                                                                                                                ttGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgc                     <  2:96289‑M1/149‑130 (MQ=255)
                                                                                                                ttGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgc                     <  2:155271‑M1/149‑130 (MQ=255)
                                                                                                                  gCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcgg                   <  2:289110‑M1/149‑132 (MQ=255)
                                                                                                                           gccTTCTGCcgtcccctgaacttcaatgatgcgcccgccttcgggcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatcc          <  2:3904‑M1/149‑141 (MQ=255)
                                                                                                                            ccTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccc         >  1:455515‑M1/1‑8 (MQ=255)
                                                                                                                             cTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccct        <  2:483846‑M1/149‑143 (MQ=255)
                                                                                                                                   ccgtccgctgcacttcaatactgcgcccgtcttcggccatcactacgttcatgtcggtctctgcggcagagacttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccctttcatc  <  1:237338‑M1/149‑149 (MQ=255)
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GCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGC  >  NC_000913_3_hsa_tpiA/3815727‑3816006

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: