Predicted mutation
evidence	seq id	position	mutation	freq	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	1,756,430	G→T	32.4%	G245C (GGC→TGC)	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	1,756,430	0	G	T	32.4%	57.4 / 33.9	40	G245C (GGC→TGC)	pykF	pyruvate kinase I
Reads supporting (aligned to +/- strand):  ref base G (12/15);  new base T (5/8);  total (17/23)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.80e-01

TAAGCGTTCTGACGTTATCGAAATCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGATCAAAAACCCACGCCCGACTCGCGC  >  NC_000913_3_hsa_tpiA/1756282‑1756575                                                                                                                                                     |                                                                                                                                                  tAAGCGTTCTGACGTTATCGAAATCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTgg                                                                                                                                                  <  1:348146/150‑1 (MQ=255)    gCGTTCTGACGTTATCGAAATCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGa                                                                                                                                               <  2:448490/150‑1 (MQ=255)             cGTTATCGAAATCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGGAAACCAGGAAGGCCTCAACCACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGgtgt                                                                                                                                      <  3:39489/150‑1 (MQ=255)               ttATCGAAATCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCGCATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAg                                                                                                                                    >  2:388826/1‑150 (MQ=255)                     aaaTCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACTGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATcc                                                                                                                              >  3:327452/1‑150 (MQ=255)                       aTCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCg                                                                                                                            <  3:234018/150‑1 (MQ=255)                       aTCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCg                                                                                                                            <  4:361763/150‑1 (MQ=255)                       aTCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCg                                                                                                                            <  1:389053/150‑1 (MQ=255)                            tGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTaga                                                                                                                       >  4:152331/1‑150 (MQ=255)                                 aCCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGaagaag                                                                                                                  <  1:323065/150‑1 (MQ=255)                                  ccTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGt                                                                                                                 <  3:227980/150‑1 (MQ=255)                                   cTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGtt                                                                                                                >  4:358218/1‑150 (MQ=255)                                   cTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGtt                                                                                                                >  3:175222/1‑150 (MQ=255)                                         gcgcACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTc                                                                                                          >  4:114641/1‑150 (MQ=255)                                           gcACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGc                                                                                                        <  2:1888/150‑1 (MQ=255)                                                     gAAAACATCCACATCATCTCCAAAAGCGAGAACCAGGAAGGCCTCAACAACTGCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCCGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAgatg                                                                                              <  2:34456/150‑1 (MQ=255)                                                         aCATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAgatgatga                                                                                          <  1:248145/150‑1 (MQ=255)                                                                           aaaTCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGGAGATGATGATCGAAAAATGTATCCGTg                                                                        <  1:420389/150‑1 (MQ=255)                                                                             aTCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCa                                                                      >  4:236529/1‑150 (MQ=255)                                                                             aTCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCa                                                                      <  2:504333/150‑1 (MQ=255)                                                                             aTCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCa                                                                      >  1:508735/1‑150 (MQ=255)                                                                                      cAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGACCGAAAAATGTATCCGTGCACGTAAAGTc                                                             >  2:174936/1‑150 (MQ=255)                                                                                        ggAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGt                                                           >  1:112499/1‑150 (MQ=255)                                                                                             gCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCa                                                      <  2:380794/150‑1 (MQ=255)                                                                                             gCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCa                                                      <  3:372929/150‑1 (MQ=255)                                                                                               cTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACt                                                    >  1:399406/1‑150 (MQ=255)                                                                                               cTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACt                                                    <  4:81215/150‑1 (MQ=255)                                                                                                    caacTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGAc                                               >  3:381640/1‑150 (MQ=255)                                                                                                        ttCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGCGGACCTGGGTGTAGAAATCCCGGTCGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAg                                           <  2:396682/150‑1 (MQ=255)                                                                                                                      cGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCAt                             <  2:51582/150‑1 (MQ=255)                                                                                                                         aGCCTCTTACGGCATCATGGGTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGAt                          <  4:266170/150‑1 (MQ=255)                                                                                                                         aGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGAt                          <  1:388826/150‑1 (MQ=255)                                                                                                                             tctGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGATCaaa                      >  2:124183/1‑150 (MQ=255)                                                                                                                              ctGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGATCaaaa                     >  3:112770/1‑150 (MQ=255)                                                                                                                                      atcatGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGATCAAAAACCCACGc             >  2:141972/1‑150 (MQ=255)                                                                                                                                        catGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGATCAAAAACCCACGccc           <  2:48215/150‑1 (MQ=255)                                                                                                                                        catGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGATCAAAAACCCACGccc           >  4:379366/1‑150 (MQ=255)                                                                                                                                         atGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCAATGATAAAAAACCCACGCCCg          <  4:12858/150‑1 (MQ=255)                                                                                                                                           ggTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAATATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGATCAAAAACCCACGCCCGAc        >  1:42244/1‑150 (MQ=255)                                                                                                                                               gcgcGTTGCGACCCGGGTGTAGAAATCCCGTTAGAAGAAGTTATCTTCCCCCACAAGATGATGATCGAAAAATGTATCCGTGCACGTAAATTCGTTATCACTCCGACCCAGATGCTGGATTCCATGATCAAAAACCCACGCCCGCCTcgc    <  4:169469/150‑1 (MQ=255)                                                                                                                                                 gcgTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGATCAAAAACCCACGCCCGACTCgcgc  <  1:213953/150‑1 (MQ=255)                                                                                                                                                     |                                                                                                                                                  TAAGCGTTCTGACGTTATCGAAATCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGATCAAAAACCCACGCCCGACTCGCGC  >  NC_000913_3_hsa_tpiA/1756282‑1756575

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑