Predicted mutation
evidence	seq id	position	mutation	freq	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	1,755,792	G→T	35.0%	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	35.0%	74.8 / 51.1	54	R32L (CGT→CTT)	pykF	pyruvate kinase I
Reads supporting (aligned to +/- strand):  ref base G (15/20);  new base T (15/4);  total (30/24)
Fisher's exact test for biased strand distribution p-value = 2.06e-02
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

CGCCCAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAAC  >  NC_000913_3_hsa_tpiA/1755645‑1755940                                                                                                                                                    |                                                                                                                                                     cgcCCAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTc                                                                                                                                                    >  1:89097/1‑150 (MQ=255) cgcCCAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTc                                                                                                                                                    >  3:386534/1‑150 (MQ=255)     cAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGaa                                                                                                                                                <  4:283045/150‑1 (MQ=255)     cAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGaa                                                                                                                                                <  2:296117/150‑1 (MQ=255)     cAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGaa                                                                                                                                                <  1:586302/150‑1 (MQ=255)        aaaGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACtt                                                                                                                                             <  3:176369/150‑1 (MQ=255)          aGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAGGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTtct                                                                                                                                           <  3:314475/150‑1 (MQ=255)           gCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTtctc                                                                                                                                          >  1:341446/1‑150 (MQ=255)            cAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTtctct                                                                                                                                         <  1:20468/150‑1 (MQ=255)                     cccATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGAc                                                                                                                                >  1:330966/1‑150 (MQ=255)                         tCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATg                                                                                                                            <  1:588235/150‑1 (MQ=255)                             tctcAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGa                                                                                                                        >  2:37330/1‑150 (MQ=255)                               tcAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGACGAGATGCTAGCTAAAATGCTCGACGCTGGCATGAACGTTACGCTTCTGAACTTCTCTCATGGTGACTATGCAGAac                                                                                                                      >  4:157703/1‑150 (MQ=255)                               tcAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAac                                                                                                                      >  2:204405/1‑150 (MQ=255)                                  aCTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACg                                                                                                                   >  3:185970/1‑150 (MQ=255)                                    ttAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGt                                                                                                                 >  1:583672/1‑150 (MQ=255)                                        agactaagactGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAgc                                                                                                             <  1:45578/150‑1 (MQ=255)                                          actaagactGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAgcgc                                                                                                           >  2:222305/1‑150 (MQ=255)                                           ctaagactGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCa                                                                                                          <  3:156350/150‑1 (MQ=255)                                            taagactGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCAt                                                                                                         >  3:97262/1‑150 (MQ=255)                                                 ctGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGa                                                                                                    <  1:202988/150‑1 (MQ=255)                                                      aTGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTg                                                                                               >  1:181328/1‑150 (MQ=255)                                                                ccAAAATTGTGTGCACCATCGGACCGAGGACCGAATCTGAAGGGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGGATCTGCGCAACGtga                                                                                     <  2:470600/150‑1 (MQ=255)                                                                   aaaTTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGtgatga                                                                                  <  2:89097/150‑1 (MQ=255)                                                                   aaaTTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGtgatga                                                                                  <  4:386534/150‑1 (MQ=255)                                                                   aaaTTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTAAGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCCACGtgatga                                                                                  >  2:434035/1‑150 (MQ=255)                                                                      ttGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCa                                                                               >  1:283707/1‑150 (MQ=255)                                                                              aCCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTTGt                                                                       >  1:538403/1‑150 (MQ=255)                                                                                  tCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTaaaa                                                                   >  3:64417/1‑150 (MQ=255)                                                                                     gACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAAccg                                                                >  4:35198/1‑150 (MQ=255)                                                                                          aaaaCCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCt                                                           >  4:354267/1‑150 (MQ=255)                                                                                            aaCCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTAt                                                         >  3:169595/1‑150 (MQ=255)                                                                                             aCCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTCCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATc                                                        <  2:184252/150‑1 (MQ=255)                                                                                                gAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTg                                                     <  2:157171/150‑1 (MQ=255)                                                                                                gAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTg                                                     <  4:185970/150‑1 (MQ=255)                                                                                                 aaTCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGc                                                    <  1:37330/150‑1 (MQ=255)                                                                                                 aaTCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGATTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGGGATGAGCAAAACTGGTAAAACCGCCGCTAACCTGc                                                    >  4:387547/1‑150 (MQ=255)                                                                                                    cTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTg                                                 <  4:32026/150‑1 (MQ=255)                                                                                                     tGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGa                                                >  2:524779/1‑150 (MQ=255)                                                                                                      gAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGAt                                               <  3:24999/150‑1 (MQ=255)                                                                                                      gAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGAt                                               >  2:104756/1‑150 (MQ=255)                                                                                                      gAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGAt                                               >  2:548774/1‑150 (MQ=255)                                                                                                       aaGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATa                                              >  3:235935/1‑150 (MQ=255)                                                                                                                      aaaTGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGaaa                               >  4:234690/1‑150 (MQ=255)                                                                                                                      aaaTGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGaaa                               >  2:177093/1‑150 (MQ=255)                                                                                                                      aaaTGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGaaa                               >  3:14198/1‑150 (MQ=255)                                                                                                                             ggACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCAc                        <  1:499914/150‑1 (MQ=255)                                                                                                                                   tGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGaa                  >  3:39250/1‑150 (MQ=255)                                                                                                                                         aaaCTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGGa            <  2:503757/149‑1 (MQ=255)                                                                                                                                              ttATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGGAAGGCg       <  2:260904/150‑1 (MQ=255)                                                                                                                                                 tGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTa    >  3:206587/1‑150 (MQ=255)                                                                                                                                                 tGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTa    >  3:256106/1‑150 (MQ=255)                                                                                                                                                  gCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTaa   <  1:204405/150‑1 (MQ=255)                                                                                                                                                   cGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAac  <  2:558189/150‑1 (MQ=255)                                                                                                                                                    |                                                                                                                                                     CGCCCAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAAC  >  NC_000913_3_hsa_tpiA/1755645‑1755940

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑