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 41 [0] [0] 40 [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)35 (1.090) 31/264 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

ACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGC  >  NC_000913_3_hsa_tpiA/3815711‑3816006
                                                                                                                                                   |                                                                                                                                                    
aCTTTAACTCCGGCTTGCTAAGCTCAAATCCAATAAACTGGCGCTGATATGTTTTCATGCCTTCGCTCCTCATCTTACTTTTCTCTTGACAAAAAAAAGGCGTCTCATCAGTTGCTTTAAAAATCAGTGTGCCAGCGCCGCCTTCTGcc                                                                                                                                                     <  1:515517/149‑2 (MQ=255)
     aaCACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtccc                                                                                                                                                <  1:395906‑M1/149‑7 (MQ=255)
                  tAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtccc                                                                                                                                                <  1:539127‑M1/136‑7 (MQ=255)
                  tAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtccc                                                                                                                                                >  2:539127‑M1/1‑130 (MQ=255)
                      cgcAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttaaatgatgc                                                                                                                               <  2:345384‑M1/149‑24 (MQ=255)
                              cAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtct                                                                                                                       <  1:491141‑M1/149‑32 (MQ=255)
                                aTAAACTGGCGCTGATATGGTTTCAGGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGGCGGCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttc                                                                                                                     <  2:351898‑M1/149‑34 (MQ=255)
                                  aaaCTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcgg                                                                                                                   <  1:574724‑M1/149‑36 (MQ=255)
                                    aCTGGCGCTGATATGGTTTCATGCCTTCGCTACTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTTAAAATCAATTTGCCAGCGCCCCCTTCTGCcgtccccttcacttcaatgctccacccgtactcggtc                                                                                                                 >  1:50682‑M1/1‑112 (MQ=255)
                                       ggCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCCGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatc                                                                                                              <  1:448366‑M1/149‑41 (MQ=255)
                                               tatGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgtt                                                                                                      >  1:205990‑M1/1‑101 (MQ=255)
                                                  gggttcatGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAATGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcat                                                                                                   <  1:47962‑M1/146‑52 (MQ=255)
                                                    tttCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgt                                                                                                 >  1:560635‑M1/1‑96 (MQ=255)
                                                                         cTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtctt                                                                            >  1:425087‑M1/1‑75 (MQ=255)
                                                                              ttttCACCAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacg                                                                       <  1:551753‑M1/149‑80 (MQ=255)
                                                                                   tACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattc                                                                  >  1:582813‑M1/1‑65 (MQ=255)
                                                                                   gacatgcaaaaaaAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattc                                                                  <  2:92483‑M1/143‑85 (MQ=255)
                                                                                    aCAGAAAAAAAAAAGGCGACTCCTCAGGCGCCTTAAAAAGCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattcc                                                                 <  2:182747‑M1/149‑86 (MQ=255)
                                                                                      aGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtct                                                                             >  2:58791‑M1/1‑62 (MQ=255)
                                                                                      aGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtct                                                                             <  1:58791‑M1/135‑74 (MQ=255)
                                                                                         cAAAAAAAAGGCGACTCAGCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatc                                                            <  1:228614‑M1/149‑91 (MQ=255)
                                                                                          aaaaaaaaGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcg                                                           >  1:82325‑M1/1‑58 (MQ=255)
                                                                                            aaaaaaGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcacccgtcttcggtcatcactacgtgcatgtcggtctctgcggcagagtcttcaacgtcttccagatcgcc                                                         >  2:127359‑M1/1‑56 (MQ=255)
                                                                                             tttaaggcGACTGATGAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaa                                                        >  2:229847‑M1/4‑55 (MQ=255)
                                                                                                     gACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttc                                                >  2:567634‑M1/1‑47 (MQ=255)
                                                                                                      cctCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagaagcttcaacgtattccagatcgcaaaccgcttcg                                               >  2:85635‑M1/2‑46 (MQ=255)
                                                                                                        tcatcaGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgcc                                             >  1:189302‑M1/1‑44 (MQ=255)
                                                                                                          atcaGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgt                                           >  1:392337‑M1/1‑42 (MQ=255)
                                                                                                            caGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttc                                         <  1:567634‑M1/149‑110 (MQ=255)
                                                                                                                    ttAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccaggtcgcaaaccgcttcgccgttcacaattcc                                 >  1:465338‑M1/1‑32 (MQ=255)
                                                                                                                    ttAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattcc                                 >  2:371812‑M1/1‑32 (MQ=255)
                                                                                                                        aaaTCCGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggactctgccgcagcggcctttacccgttgcagatcgcaaaccgcttcgccgttcacaattccgaca                             <  1:447673‑M1/149‑122 (MQ=255)
                                                                                                                         aaTCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcccaattccgacag                            >  1:96335‑M1/1‑27 (MQ=255)
                                                                                                                            cAGTTTGCCAGCGCCGCCTTCTGCcgtcctctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcgttctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaa                         <  2:568192‑M1/149‑126 (MQ=255)
                                                                                                                                  gCCAGCGCCGCCTTCTGCcgtcccctccacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcgg                   <  1:1747‑M1/149‑132 (MQ=255)
                                                                                                                                      gcgcCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccaggtcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctac               <  2:465338‑M1/149‑136 (MQ=255)
                                                                                                                                          cgccTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatc           <  1:371812‑M1/149‑140 (MQ=255)
                                                                                                                                              ttCTGCcggcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccctt       <  2:205990‑M1/149‑144 (MQ=255)
                                                                                                                                                cTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccctttc     >  2:566852‑M1/1‑4 (MQ=255)
                                                                                                                                                  gCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagctcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccctttcat   <  1:305515‑M1/149‑148 (MQ=255)
                                                                                                                                                   ccgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccctttcatc  <  1:378643‑M1/149‑149 (MQ=255)
                                                                                                                                                   |                                                                                                                                                    
ACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGC  >  NC_000913_3_hsa_tpiA/3815711‑3816006

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: