Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	708,225	A→G	intergenic (+468/‑109)	glnS → / → chiP	glutamyl‑tRNA synthetase/chitoporin, uptake of chitosugars

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	708,225	0	A	G	98.0%	167.6 / NA	51	intergenic (+468/‑109)	glnS/chiP	glutamyl‑tRNA synthetase/chitoporin, uptake of chitosugars
Reads supporting (aligned to +/- strand):  ref base A (0/0);  major base G (26/24);  minor base T (0/1);  total (26/25)
Fisher's exact test for biased strand distribution p-value = 4.90e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.93e-01

GAATTTCACGCTTTTATTCTTCTGCAAGCCTTTCAACCGCAAACTTAAGCCTTGTAACAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATAGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAGGATTAACCCATGCGTACGTTTAGTGGCAAACGTAGTACGCTG  >  NC_000913_3_hsa_tpiA/708084‑708366                                                                                                                                              |                                                                                                                                              gAATTTCACGCTTTTATTCTTCTGCAAGCCTTTCAACCGCAAACTTAAGCCTTGTAACAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGtt                                                                                                                                        <  1:587140/149‑1 (MQ=255)          gCTTTTATTCTTCTGCAAGCCTTTCAACCGCAAACTTAAGCCTTGTAACAAAGATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTAAAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTc                                                                                                                               >  2:988882/1‑149 (MQ=255)                   cttctGCAAGCCTTTCAACCGCAAACTTAAGCCTTGTAACAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCGGCTAGACt                                                                                                                      <  2:971005/149‑1 (MQ=255)                   cttctGCAAGCCTTTCAACCGCAAACTTAAGCCTTGTAACAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACt                                                                                                                      >  1:1037051/1‑149 (MQ=255)                       tGCAAGCCTTTCAACCGCAAACTTAAGCCTTGTAACAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTtc                                                                                                                  <  1:203768/149‑1 (MQ=255)                        gCAAGCCTTTCAACCGCAAACTTAAGCCTTGTAACAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTtct                                                                                                                 >  2:342731/1‑149 (MQ=255)                           aGCCTTTCAACCGCAAACTTAAGCCTTGTAACAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCaa                                                                                                              <  2:384535/149‑1 (MQ=255)                           aGCCGTTCAACCGCAAACTTAAGACTTGTAACAAAAATCATCAAAATACGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAACAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCaa                                                                                                              <  1:891373/149‑1 (MQ=255)                                    aCCGCAAACTTAAGCCTTGTAACAAAAATCATCAAAATATGTGCGGTTGCTCAGGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCGACGCTACttt                                                                                                     >  2:119453/1‑149 (MQ=255)                                             ttAAGCCTTGTAACAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAatttt                                                                                            >  2:130835/1‑149 (MQ=255)                                                  ccTTGTAACAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAatttttattt                                                                                       >  1:825901/1‑149 (MQ=255)                                                    ttGTAACAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAatttttattttt                                                                                     >  2:641468/1‑149 (MQ=255)                                                    ttGTAACAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAatttttattttt                                                                                     >  2:180116/1‑149 (MQ=255)                                                      gTAACAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTc                                                                                   <  2:1037051/149‑1 (MQ=255)                                                          cAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTg                                                                               <  1:242416/149‑1 (MQ=255)                                                             aaaTCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTc                                                                            <  2:772886/149‑1 (MQ=255)                                                                   tcaAAATATGTGCGGTTGCTCATGTTCTTACATTTTAGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCttt                                                                      >  2:857869/1‑149 (MQ=255)                                                                   tcaAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGt                                                                                                                                             <  1:805263/78‑1 (MQ=255)                                                                   tcaAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGt                                                                                                                                             >  2:805263/1‑78 (MQ=255)                                                                   tcaAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCttt                                                                      >  1:293486/1‑149 (MQ=255)                                                                   tcaAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCttt                                                                      >  2:49293/1‑149 (MQ=255)                                                                    caAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTg                                                                     <  2:293486/149‑1 (MQ=255)                                                                    caAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTg                                                                     >  2:938422/1‑149 (MQ=255)                                                                    caAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTg                                                                     <  1:49293/149‑1 (MQ=255)                                                                     aaaaTATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGCCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTgg                                                                    <  1:533921/149‑1 (MQ=255)                                                                       aaTATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAGGAGAATGGTAATTCTCGTAGCGATAAATGGTGTTTTTCTGTAATCTACGAGAGTTTTCGCAATTCTCCTTTTTTAATTTTTATTTTTTTGCTGTTTACTTTTGGTg                                                                  >  2:476459/1‑149 (MQ=255)                                                                        atatGTTCTGTTGCGCATGTTCTCACATTCTGGGTAGAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTgc                                                                 <  2:163185/149‑1 (MQ=255)                                                                        atatGTGCGTTTGCATATTTTCGTACATTCTGGTTACAGAAAGAGATTGAGCATTTGCGTTGCGAAAAATGGTCTGTCCCTGGAGTCGTCGATACTTTTCTCAACGCTTCTTTTTTAATTGTTATTTTTTCGCTGTTCACCTTTGGTgc                                                                 <  2:163236/149‑1 (MQ=255)                                                                         tttgtgCGGTTGCTCTTGTTGTTGGATTGTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGGTCCTGTACTTAGCGAGACTTTTCTCAACGCTGCTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTgca                                                                <  2:1000312/147‑1 (MQ=255)                                                                                ggTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCATTGGTGCAGCAAttt                                                         >  1:105387/1‑149 (MQ=255)                                                                                 gttgtagaTGTTATAACAATCTGGTTACAGAAAGAAATTAAGTTTTCGATTCGTTAAAAATTATCGGTTCCTGTAGTTAGTGAGACTTGTCTTAACGCAACTTTTTCAATTTTTAGTTTTTCACTGTTCACCTTTGGTGCAGCAATTta                                                        <  2:60109/142‑1 (MQ=255)                                                                                   tGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTtata                                                      <  1:626388/149‑1 (MQ=255)                                                                                           ttCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTAACCTTTGGTGCTGCAATTTATACGtaagag                                              >  2:718430/1‑144 (MQ=255)                                                                                            tCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCt                                                                                                                                     >  2:79079/1‑61 (MQ=255)                                                                                            tCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCt                                                                                                                                     <  1:79079/61‑1 (MQ=255)                                                                                              ttACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATAc                                                     >  2:693629/1‑139 (MQ=255)                                                                                              ttACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATAc                                                     <  1:693629/139‑1 (MQ=255)                                                                                              ttACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAgg                                           >  1:853987/1‑149 (MQ=255)                                                                                               tACAGTCTGGTTACAGAAAGGGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAGGa                                          <  1:983028/149‑1 (MQ=255)                                                                                                  aTTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAGGAt                                         <  2:453700/147‑1 (MQ=255)                                                                                                  aTTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAGGAt                                         >  1:453700/1‑147 (MQ=255)                                                                                                          tACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAGGATTAACCCATGc                               >  1:138181/1‑149 (MQ=255)                                                                                                           aCAGAAAGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAGGATTAACCCATGCg                              >  1:425684/1‑149 (MQ=255)                                                                                                               aaaGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCGAAGAGGATTAACCCATGCGTAcc                          >  2:219573/1‑148 (MQ=255)                                                                                                               aaaGAGATTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAGGATTAACCCATGCGTACg                          >  2:86699/1‑149 (MQ=255)                                                                                                                   agaTTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTTCAGCAATTTATACGTCAAAGAGGATTAACCCATGAGTACGTTTa                      >  2:281714/1‑149 (MQ=255)                                                                                                                     aTTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAGGATTAACCCATGCGTACGTTTAGt                    >  1:222653/1‑149 (MQ=255)                                                                                                                     aTTGATAATTCGCGTCGCGAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAGGATTAACCCATGCGTACGTTTAGt                    <  1:641468/149‑1 (MQ=255)                                                                                                                                gcgtcgcgAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAGGATTAACCCATGCGTACGTTTAGTGGCAAACgtag         <  1:988882/149‑1 (MQ=255)                                                                                                                                      cgAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTATTATCAACGGGACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAGGATTAACCCATGCGTACGTTTAGTGGCAAACGTAGTAcgct   <  1:463033/149‑1 (MQ=255)                                                                                                                                       gAAAAATGGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAGGATTAACCCATGCGTACGTTTAGTGGCAAACGTAGTAcgctg  <  1:86699/149‑1 (MQ=255)                                                                                                                                              |                                                                                                                                              GAATTTCACGCTTTTATTCTTCTGCAAGCCTTTCAACCGCAAACTTAAGCCTTGTAACAAAAATCATCAAAATATGTGCGGTTGCTCATGTTCTTACATTCTGGTTACAGAAAGAGATTGATAATTCGCGTCGCGAAAAATAGTCTGTTCCTGTAGTCAGCGAGACTTTTCTCAACGCTACTTTTTTAATTTTTATTTTTTCGCTGTTCACCTTTGGTGCAGCAATTTATACGTCAAAGAGGATTAACCCATGCGTACGTTTAGTGGCAAACGTAGTACGCTG  >  NC_000913_3_hsa_tpiA/708084‑708366

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: ‑