Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	3,486,397	G→C	C93S (TGT→TCT)	crp →	cAMP‑activated global transcription factor, mediator of catabolite repression

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	3,486,397	0	G	C	100.0%	149.9 / NA	46	C93S (TGT→TCT)	crp	cAMP‑activated global transcription factor, mediator of catabolite repression
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base C (22/24);  total (22/24)

AAAGGCTCTGTGGCAGTGCTGATCAAAGACGAAGAGGGTAAAGAAATGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTGTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCAAGTCACTTCAGAGAAAGTGGGCAACCTGGCGTTCCTCGACGTGA  >  NC_000913_3_hsa_tpiA/3486252‑3486540                                                                                                                                                  |                                                                                                                                                aaaGGCTCTGTGGCAGTGCTGATCAAAGACGAAGAGGGTAAAGAAATGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGa                                                                                                                                              >  1:60245/1‑149 (MQ=255)  aaGGCTCTGTGGCAGTGCTGATCAAAGACGAAGAGGGTACAGAAATGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGCGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGaa                                                                                                                                             <  1:558273/149‑1 (MQ=255)   aGGCTTTGTGGCAGTGCTGATCAAAGACGAAGAGCGTAAAGAAATGATCCTCTCCGATCTGAATCAGGGTGATTTTAGTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAg                                                                                                                                            <  1:648747/149‑1 (MQ=255)               aGTGCTGATCAAAGACGAAGAGGGTAAAGATATGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAAttt                                                                                                                                >  2:594452/1‑149 (MQ=255)                gttcTGATTACAGACTAAGAGGGTAAAGAAATGACCCTTTCCTATCTGAACCAGGGTGATTTTATTGGCGAACTGAGCCTGTTTCAAGAGGGCCAGGAACGTATCGCATGGGCACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTc                                                                                                                               <  1:130202/146‑1 (MQ=255)                 tGCTGATCAAAGACGAAGAGGGTAAAGAAATGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCg                                                                                                                              >  2:112726/1‑149 (MQ=255)                      aTCAAAGACGAAGAGGGTAAAGAAATGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGCACGTAATGCTTGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATATCGTACaa                                                                                                                         >  1:684355/1‑149 (MQ=255)                      aTCAAAGACGAAGAGGGTAAAGAAATGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACaa                                                                                                                         >  1:244478/1‑149 (MQ=255)                              cGAAGAGGGGAAAGAAATGATCCTCCGCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATAGGCACGTGGGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTc                                                                                                                 <  2:489449/149‑1 (MQ=255)                                aaGGGGGTAAAGAACTGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCCGGGACCGACAGCATAGTGACCTGGAAATGGCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGc                                                                                                               <  2:343748/149‑1 (MQ=255)                                     ggTAAAGAAATGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAAtt                                                                                                          >  2:499052/1‑149 (MQ=255)                                       gaaaGAAATGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAAATTCGCCAATTGa                                                                                                        >  2:618643/2‑149 (MQ=255)                                         aaGAAATGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGAtt                                                                                                      >  1:168886/1‑149 (MQ=255)                                          aGAAATGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTc                                                                                                     <  2:128013/149‑1 (MQ=255)                                            aaaTGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAg                                                                                                   <  2:168886/149‑1 (MQ=255)                                                    ctctCCTATTTGAATTAGGGGGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAAccc                                                                                           <  2:96531/149‑1 (MQ=255)                                                               gAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGa                                                                                <  1:261371/149‑1 (MQ=255)                                                                aaTCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAATCCGGACATTCTGAt                                                                               <  2:596798/149‑1 (MQ=255)                                                                      ggTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGttt                                                                         <  2:54929/149‑1 (MQ=255)                                                                      ggTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGttt                                                                         <  2:284884/149‑1 (MQ=255)                                                                           ttttATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTTATTCAGGTAAACCCGGACACTCTGATGCGTTTATCTg                                                                    >  1:88496/1‑149 (MQ=255)                                                                             ttATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGca                                                                  <  2:60245/149‑1 (MQ=255)                                                                                 tGGCTAACTGGGCCTGGTTGAAGAGGGCCATGAACGTAGCGCATTGTGACGTTCGATAACCGCCTCTGAAGTGGCTGAAAGTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGa                                                              <  1:338571/149‑1 (MQ=255)                                                                                   gCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGCCATTCTGATGCGTTTGTCTGCAAAGATg                                                            >  1:459755/1‑149 (MQ=255)                                                                                   gCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATg                                                            >  1:526279/1‑149 (MQ=255)                                                                                     gAACTGGGCCTGGTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGgc                                                          <  1:295844/149‑1 (MQ=255)                                                                                        cTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGcgcg                                                       <  2:127659/149‑1 (MQ=255)                                                                                          gggCCTGTTGGAAGAGGGCCAGGAACGTAGCGGATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGcgtc                                                     <  2:500215/149‑1 (MQ=255)                                                                                              cTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGcaca                                                                >  2:59308/1‑134 (MQ=255)                                                                                              cTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGcaca                                                                <  1:59308/134‑1 (MQ=255)                                                                                                    gAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCACGt                                           >  1:670257/1‑149 (MQ=255)                                                                                                         gggCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCAAGTCACtt                                      <  1:258582/149‑1 (MQ=255)                                                                                                                    gTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCACGTCACTTCAGAGAAAggg                           <  2:457525/149‑3 (MQ=255)                                                                                                                    gTAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCAAGTCACTTCAGAGAAAGTg                           >  2:18146/1‑149 (MQ=255)                                                                                                                     tAGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCAAGTCACTTCAGAGAAAGTgg                          <  1:18146/149‑1 (MQ=255)                                                                                                                      aGCGCATGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCAAGTCACTTCAGAGAAAGTggg                         <  1:499052/149‑1 (MQ=255)                                                                                                                           aTGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCAAGTCACTTCAGAGAAAGTGGGCAAcc                    >  1:546127/1‑149 (MQ=255)                                                                                                                           aTGGGTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCAAGTCACTTCAGAGAAAGTGGGCAAcc                    >  1:696828/1‑149 (MQ=255)                                                                                                                               gTACGTGCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCAAGTCACTTCAGAGAAAGTGGGCAACCTGGc                <  1:112726/149‑1 (MQ=255)                                                                                                                                     gCGAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTCGTCTGCACAGATGGCGCGTCGTCTGCAAGTCACTTCAGAGAAAGTGGGCAACCTGGCGTTCCt          >  1:647878/1‑149 (MQ=255)                                                                                                                                       gAAAACCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCAAGTCACTTCAGAGAAAGTGGGCAACCTGGCTTTCCTct        >  1:262201/1‑148 (MQ=255)                                                                                                                                          aaCCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGAtt                                                                                                      >  2:479564/1‑52 (MQ=255)                                                                                                                                          aaCCGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGAtt                                                                                                      <  1:479564/52‑1 (MQ=255)                                                                                                                                             cGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCAAGTCACTTCAGAGAAAGTGGGCAACCTGGCGTTCCTCGACGTGa  >  2:520284/1‑149 (MQ=255)                                                                                                                                             cGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGAAAGTCACTTCAGAGAAAGTGGGCAACCTGGCGTTCCTCGACGTGa  >  1:652549/1‑149 (MQ=255)                                                                                                                                             cGCCTCTGAAGTGGCTGAAATTTCGTACAAAAAATTTCACCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCAAGTCACTTCAGGGAACGTTCACAACCTGCCTTTCCCCGACGTGa  >  2:130744/1‑149 (MQ=255)                                                                                                                                                  |                                                                                                                                                AAAGGCTCTGTGGCAGTGCTGATCAAAGACGAAGAGGGTAAAGAAATGATCCTCTCCTATCTGAATCAGGGTGATTTTATTGGCGAACTGGGCCTGTTTGAAGAGGGCCAGGAACGTAGCGCATGGGTACGTGCGAAAACCGCCTGTGAAGTGGCTGAAATTTCGTACAAAAAATTTCGCCAATTGATTCAGGTAAACCCGGACATTCTGATGCGTTTGTCTGCACAGATGGCGCGTCGTCTGCAAGTCACTTCAGAGAAAGTGGGCAACCTGGCGTTCCTCGACGTGA  >  NC_000913_3_hsa_tpiA/3486252‑3486540

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: ‑