Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	1,755,792	G→T	R32L (CGT→CTT)	pykF →	pyruvate kinase I

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	1,755,792	0	G	T	100.0%	211.0 / NA	59	R32L (CGT→CTT)	pykF	pyruvate kinase I
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base T (27/32);  total (27/32)

CAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGG  >  NC_000913_3_hsa_tpiA/1755649‑1755929                                                                                                                                                |                                                                                                                                          cAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGaa                                                                                                                                     <  1:120525/150‑1 (MQ=255)    aaaGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTGATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACtt                                                                                                                                  <  1:567316/150‑1 (MQ=255)          aGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCa                                                                                                                            <  3:296691/150‑1 (MQ=255)                   cATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTCATGCTTCTGATCTGCTCTCCTGGTGACTa                                                                                                                   >  2:551439/1‑150 (MQ=255)                    aTCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTAt                                                                                                                  <  2:810704/150‑1 (MQ=255)                     tCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATg                                                                                                                 >  4:333828/1‑150 (MQ=255)                       cTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCa                                                                                                               >  1:355887/1‑150 (MQ=255)                       cTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCa                                                                                                               <  2:709107/150‑1 (MQ=255)                        ttCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAg                                                                                                              >  1:488975/1‑150 (MQ=255)                         tctcAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCAGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGa                                                                                                             <  4:400651/150‑1 (MQ=255)                           tcAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTCGCACCATCGGACCGAAAACCGAAGCTGAAGAGATGTGAGCGAAAATGGTGTACGCTGGCATGAACGTTATGCTTCTGAAATTCTCTCATGGTGACTATGCAGaaa                                                                                                           >  2:92048/1‑149 (MQ=255)                                        taagactGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCAt                                                                                              >  1:600454/1‑150 (MQ=255)                                           gactGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCa                                                                                           <  3:15497/150‑1 (MQ=255)                                              tctCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGaa                                                                                        <  3:610408/148‑1 (MQ=255)                                                tCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGaacc                                                                                      >  3:514555/1‑148 (MQ=255)                                                  aTGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTg                                                                                    >  3:345708/1‑150 (MQ=255)                                                    gAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTgcg                                                                                  >  1:695509/1‑150 (MQ=255)                                                    gAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTgcg                                                                                  <  4:424881/150‑1 (MQ=255)                                                    gAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTgcg                                                                                  >  1:988099/1‑150 (MQ=255)                                                     aaaaaTACCAACATTGTTTGCACCATCGGACCGAAAACCTAATCTGAAGAGATGTTAGCGAAAATGCAGGACGCTGGAATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTgcgc                                                                                 <  2:271365/150‑1 (MQ=255)                                                             cAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGtgat                                                                         <  4:345708/150‑1 (MQ=255)                                                              aaaaTTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGtgatg                                                                        >  2:684705/1‑150 (MQ=255)                                                               aaaTTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGtgatga                                                                       <  2:118285/150‑1 (MQ=255)                                                                       tGCACAATCGGACCGAAGACCGAATCTGAATAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATCGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACt                                                               <  4:569296/150‑1 (MQ=255)                                                                        gCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTg                                                              <  3:333828/150‑1 (MQ=255)                                                                            cATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGaa                                                                                                            <  3:379829/100‑1 (MQ=255)                                                                            cATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGaa                                                                                                            >  4:379829/1‑100 (MQ=255)                                                                                    cGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAAccgccg                                                  >  1:412963/1‑150 (MQ=255)                                                                                     gAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACcgccgc                                                 >  3:589989/1‑150 (MQ=255)                                                                                      aaaaCCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCt                                                >  1:363355/1‑150 (MQ=255)                                                                                          ccGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGaa                                                                                                                                     >  1:514244/1‑61 (MQ=255)                                                                                          ccGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGaa                                                                                                                                     <  2:514244/61‑1 (MQ=255)                                                                                           cGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAgc                                                                                                  >  4:295305/1‑95 (MQ=255)                                                                                           cGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAgc                                                                                                  <  3:295305/95‑1 (MQ=255)                                                                                               tCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCtt                                       <  4:589989/150‑1 (MQ=255)                                                                                               tCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCtt                                       <  1:684705/150‑1 (MQ=255)                                                                                                cTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAGCTGGTAAATCCGCCGCTATCCTGCTTg                                      <  4:448637/150‑1 (MQ=255)                                                                                                  gAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGAt                                    <  1:20954/150‑1 (MQ=255)                                                                                                    agagATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCt                                                                                                                                        >  4:48418/1‑48 (MQ=255)                                                                                                    agagATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCt                                                                                                                                        <  3:48418/48‑1 (MQ=255)                                                                                                    agagATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTCCTCACATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATAc                                  <  1:986370/150‑1 (MQ=255)                                                                                                     gagaTGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATAcc                                 >  1:602109/1‑150 (MQ=255)                                                                                                      agaTGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCa                                <  2:355887/150‑1 (MQ=255)                                                                                                        aTGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCaaa                              >  1:15207/1‑150 (MQ=255)                                                                                                               cTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCgg                       <  2:988099/150‑1 (MQ=255)                                                                                                                 aaaaTGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGaa                     >  4:337147/1‑150 (MQ=255)                                                                                                                  aaaTGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGaaa                    >  3:190847/1‑150 (MQ=255)                                                                                                                     tGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATcc                 <  2:412963/150‑1 (MQ=255)                                                                                                                      gCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACcgccgc                                                 >  2:449807/1‑117 (MQ=255)                                                                                                                      gCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACcgccgc                                                 <  1:449807/117‑1 (MQ=255)                                                                                                                          gACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCAcc            >  2:850876/1‑150 (MQ=255)                                                                                                                          gACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCAcc            <  1:850876/150‑1 (MQ=255)                                                                                                                                ggCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGaaa      <  3:105512/150‑1 (MQ=255)                                                                                                                                   aTGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCGGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTg   <  1:551439/150‑1 (MQ=255)                                                                                                                                   aTGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTg   <  2:488975/150‑1 (MQ=255)                                                                                                                                   aTGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTg   >  2:914143/1‑150 (MQ=255)                                                                                                                                    tGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTgg  >  2:481074/1‑150 (MQ=255)                                                                                                                                     gAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACATGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCa              >  4:153671/1‑137 (MQ=255)                                                                                                                                     gAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACATGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCa              <  3:153671/137‑1 (MQ=255)                                                                                                                                                |                                                                                                                                          CAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGG  >  NC_000913_3_hsa_tpiA/1755649‑1755929

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