Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	2,817,170	C→A	E112* (GAA→TAA)	yqaB ←	fructose‑1‑P and 6‑phosphogluconate phosphatase

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	2,817,170	0	C	A	100.0%	107.2 / NA	38	E112* (GAA→TAA)	yqaB	fructose‑1‑P and 6‑phosphogluconate phosphatase
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (21/17);  total (21/17)

CGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGC  >  NC_000913_3_hsa_tpiA/2817027‑2817314                                                                                                                                                |                                                                                                                                                 cGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTcc                                                                                                                                             <  2:322973/149‑1 (MQ=255)        aCGCCCATACGCTGCGCGCACAACAAAAATGTGTCCGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGATGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTcc                                                                                                                                      >  2:662298/1‑149 (MQ=255)            ccATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACa                                                                                                                                  >  1:451334/1‑149 (MQ=255)            ccATACGCTGCGCGCACAACAAAAATGTGGCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACa                                                                                                                                  <  2:424004/149‑1 (MQ=255)             cATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAg                                                                                                                                 <  2:451334/149‑1 (MQ=255)                         gcACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgac                                                                                                                     >  2:264817/1‑149 (MQ=255)                               aaaaaaTGTGTCTGGCGCGGGTTCATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCTTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTATAACTCCCCGTTCCTACAGCGATTGGGCGACGACCAt                                                                                                               >  2:699389/2‑149 (MQ=255)                                           tGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTca                                                                                                   <  1:306450/149‑1 (MQ=255)                                                        tGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCGCATCAACAag                                                                                      >  2:604239/1‑149 (MQ=255)                                                         ggtggtTGACGTGAGCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGGGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAaga                                                                                     <  2:151774/149‑1 (MQ=255)                                                           tgtTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAgg                                                                                   >  1:679756/1‑149 (MQ=255)                                                             tttGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTGCCCGTTCCTACAGCCACTGGGCGGCGACCATGACACCTTTTCACGACATCGACAAGAGGaa                                                                                 >  1:441733/1‑149 (MQ=255)                                                              ttGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAg                                                                                <  1:264817/149‑1 (MQ=255)                                                                 aCGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCgg                                                                             >  1:510587/1‑149 (MQ=255)                                                                   gTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCGTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCCACTATTCACCACATCAACAAGCGGAAGGGGtt                                                                           >  2:703999/1‑149 (MQ=255)                                                                    tGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGGTGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCCCCACATGAACAAGAGGAAGCGGTTc                                                                          >  1:206022/1‑149 (MQ=255)                                                                      aTCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAAc                                                                                                                                                >  1:267522/1‑77 (MQ=255)                                                                      aTCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAAc                                                                                                                                                <  2:267522/77‑1 (MQ=255)                                                                       tCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTACCTCCCCGTTCCTACAGCCATTGGGCGCCGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGAc                                                                       >  2:716487/1‑149 (MQ=255)                                                                        cGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACg                                                                      <  2:510587/149‑1 (MQ=255)                                                                                  gccgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca                                                            <  1:243570/147‑1 (MQ=255)                                                                                              agaatGGCGTAATTCCAGTTGCGCGAGCAATGCCGCAGGGATGTCGCTTTAACTCCCCGTTCCTACAGGCATTGGGCGCCGACCATGCCAACTTTTCACCACATCCACAAGAGGAAGCGGTTCGACGCTATCCAGCCGCAGACTTCTTa                                                <  2:393299/147‑1 (MQ=255)                                                                                                 atGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTAAAGCCATTGGGCGACGGCCATGCCAACTTTTCACCCCATCAACAGGGGGCAGAGGTTCGGCGGTATTCGGCGGCATGCTTCTTGCTg                                             >  2:148271/1‑149 (MQ=255)                                                                                                    gCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCtt                                          >  1:429399/1‑149 (MQ=255)                                                                                                      gTAATCCCAGGTGAGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCACCATACATCTTACTGCTTCt                                        >  2:134752/1‑149 (MQ=255)                                                                                                          tCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca                                                            <  1:460200/125‑1 (MQ=255)                                                                                                          tCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca                                                            >  2:460200/1‑125 (MQ=255)                                                                                                              aGGTGCGCCATCAATCCCTCAGCGTTGGCGCTTTAACTCCCCGTCCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTc                                <  2:356851/149‑1 (MQ=255)                                                                                                                gTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCAc                              <  1:504226/149‑1 (MQ=255)                                                                                                                    gcCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACgcgc                          <  1:257547/149‑1 (MQ=255)                                                                                                                      cAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTa                        >  1:109409/1‑149 (MQ=255)                                                                                                                          aaTGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGc                    >  1:81325/1‑149 (MQ=255)                                                                                                                           aTGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCCTACTTCTTACTGCTTCTACCTTTTCACGCTCTAACGCa                   >  2:308090/1‑149 (MQ=255)                                                                                                                                tCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACCCATGCgg              >  2:537785/1‑149 (MQ=255)                                                                                                                                     gATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGTAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCga         <  2:458866/149‑1 (MQ=255)                                                                                                                                       tGGCGCTTCAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCgaga       <  1:508466/149‑1 (MQ=255)                                                                                                                                          cgcTTTAACTCCCCGTTCCTACAGCCATTGGCCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAACCGGTTCGACGCTATCCAGCAGCATACTTCTTACTCCTTCTGTTTATTCACGCGCTCACCCATGCGGGCCGAGATCg    >  2:17874/1‑149 (MQ=255)                                                                                                                                            cTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGc  <  1:318724/149‑1 (MQ=255)                                                                                                                                                |                                                                                                                                                 CGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGC  >  NC_000913_3_hsa_tpiA/2817027‑2817314

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: ‑