Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 3,903,015 C→A 23.5% G229G (GGG→GGT)  bglB ← cryptic phospho‑beta‑glucosidase B

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA3,903,0150CA23.5% 57.0 / 4.0 40G229G (GGG→GGT) bglBcryptic phospho‑beta‑glucosidase B
Reads supporting (aligned to +/- strand):  ref base C (11/19);  new base A (2/8);  total (13/27)
Fisher's exact test for biased strand distribution p-value = 4.51e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

TGATATTGTGGTCGCGGAAGAAACGCTGCATATAGCCGGGATACTGGCCACGCGCCTGAACATCACCAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGGCAACCAGTTGATGGTGGATAGCCTGATAAACTTCCGCCTCGCCACTCTCTTCTGCCAGCCCCACGCCCGTGAAT  >  NC_000913_3_hsa_tpiA/3902873‑3903162
                                                                                                                                              |                                                                                                                                                   
tGATATTGTGGTCGCGGAAGAAACGCTGCATATAGCCGGGATACTTGCCAACCGCCAGCACTTTTTCAGAGAACATCCAGCGCCGGTTCTCTTCCATCGCCTGCAACATATCCTGTGACTGCCCGGAGAGGGGGCAAACCCGCCCAccc                                                                                                                                               >  2:490612/1‑148 (MQ=255)
 gATATTGTGGTCGCGGAAGAAACGCTGCATATAGCCGGGATACTGGCCACGCGCCTGAACATCACCAAAGAACATGCAGCGCCGGTTCTCTTCCCTGGCCTGCAACATATCCTCTGGCTGGCAGGTGAGGGGGCAAACCAGCCCACCga                                                                                                                                              >  2:464879/1‑149 (MQ=255)
 gATATTGTGGTCGCGGAAGAAACGCTGCATATAGCCGGGATACTGGCCACGCGCCTGAACATCACCAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCga                                                                                                                                              <  1:33455/149‑1 (MQ=255)
               ggAAGAAACGCTGCATATAGCCGGGATACTGGCCACGCGCCTGAACATCACCAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCg                                                                                                                                >  1:538837/1‑149 (MQ=255)
                taagaaACTCTGCTTATACCCGTGATACTGGCCACGCGCCTGAACATCACAAAAGAATACCTAGCTCCGGTTCTTTTTCATGGCCTGCAACATATCCTGTGGCTTGTTGTTGATAATGATACGGCGACCACCGAGAAGCATATTGCCGa                                                                                                                               <  2:593183/148‑1 (MQ=255)
                gaagaaACGCTGCATATAGCCGGGATACTGGCCGCGCGACTGAACATCACCAAAGAACATCCAGCGCCGGGTCTCTTCCATGGCCCGCCACCCATCCTCTGGCTGGCAGGCGACGGGGCAAACCAGACCACCGAGAGGAACATCGCCgt                                                                                                                               >  2:646985/1‑148 (MQ=255)
                     aaCGTTGCATATTGCCGGGATACTGGCCACGCGCCTGAACATCCCCAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTc                                                                                                                          <  1:552644/149‑1 (MQ=255)
                       cGCTGCATATAGCCGGGATACTGGCCACGCGCCTGAACATCACCAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGc                                                                                                                        <  1:87684/149‑1 (MQ=255)
                             atatAGCCGGGATACTGGCCACGCGCCTGAACATCACCAAAGACGATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTTGTTTGCAGGTGAGAAGGTAAACGAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCggg                                                                                                                  <  2:381610/149‑1 (MQ=255)
                              tataGCCGGGATACTGGCCACGCGCCTGAAGATCACGAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTTTTTTTTTTTAATGATACGGCGACCACCGAGAAGCATATTGCCGATTTTCGCTTCgggg                                                                                                                 <  2:184140/149‑1 (MQ=255)
                               ataGCCGGGATACTGGCCACGCGCCTGAACATCACCAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGa                                                                                                                <  1:60786/149‑1 (MQ=255)
                                   ctgggATACTGGCCAGGCGCCTGAACATCACCAAAGAACATCCAGTGCCGGTTCTCTTCCATGGCTTGGAACATATCCTGTGGCGGGTTTGTGTGAGGGTTACGGAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAg                                                                                                            <  2:543894/147‑1 (MQ=255)
                                       gATACGCGCCACCCTGCTGAACATCACCAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGTAGGTGAGAGGGAAAACGCGACCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTa                                                                                                        <  2:576760/149‑1 (MQ=255)
                                            tGGCCACGCGCCTGAACATCACCAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACa                                                                                                   <  1:381067/149‑1 (MQ=255)
                                             ggCCACGCGCCTGAACATCACCAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTATAGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGCGCCGGCTATGCCAg                                                                                                  >  1:237048/1‑149 (MQ=255)
                                              gCCAGGCGCGTGAACATCACCAAAGAACAGCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAAGGAGACCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAgg                                                                                                 <  2:1860/149‑1 (MQ=255)
                                              gCCACGCGCGTTAACATCACCAAAAAACATCCAGGCCCTGCTCTCTTCCATTGCCTACACCATACCCTGTGGCTTTTATTTTTTAATGATACGGCGACCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAgg                                                                                                 <  2:423928/149‑1 (MQ=255)
                                                   gcgcCTGAACATCACCAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTa                                                                                            >  1:600618/1‑149 (MQ=255)
                                                       cTGAACATCACCAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCCATGACAGGCTTTAACTg                                                                                        >  1:520137/1‑149 (MQ=255)
                                                        tGAACATCACCAAAGAACATCCAGCGCCGGTTATCTTCCATGGCCAGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGc                                                                                       >  1:546262/1‑149 (MQ=255)
                                                          aacaacaacAAAGAACATCCAGCGCCGGTTGTCTTCCATGGCCTGCAACATATCCTGTGGCTGTTAGGTGAGGGTGTTAACGCGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGccc                                                                                     <  2:609814/149‑1 (MQ=255)
                                                           aCATCACCAAAGAACATCCAGCGCCGGTTCTGTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCcg                                                                                    <  2:573977/149‑1 (MQ=255)
                                                             aTCACCAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGGAGCCGATTCCCGATTTTCGCTTCCGGCAGCCGGCCATGCCACGCTTTAACTCCCcgcg                                                                                  >  2:361904/1‑149 (MQ=255)
                                                                  cAAAGAACATCCAGCGTCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTTGTAGTTGATGGTGTAACCCCGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACGGGCTTTAACTGCCCGCGCACTg                                                                             <  2:384568/149‑1 (MQ=255)
                                                                    caGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTAGCAGGTAAGGGGGTAAACCAGACCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAAATGCCCGCGCACTGGc                                                                           >  1:656666/2‑149 (MQ=255)
                                                                              aGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGGCAACCAGTTGa                                                                 <  2:538837/149‑1 (MQ=255)
                                                                               gcgcTGGTTCGTTTCCATCGCCTGCAACATATCCTGTGGCTGGTTTTTTTGAGTGTTACGGAGACCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGGCAACCAGTTGAt                                                                <  2:274162/149‑1 (MQ=255)
                                                                                   ccgTTCTCTCCCATGGCCAGCAACATATCCCGTGGCTGGCAGTTTAGAGTGTAAACCAGACCACCGAGAAGCATATTGCCGATCTTCCCTTCGGGGAGCAGCCTATCACAGGCTTTAACTGCCCGCGCACTGGCAACCAGTTGAtggtg                                                            <  2:163293/147‑1 (MQ=255)
                                                                                   cagTTCTCTTCCATTGCCTGCAACATATCCTGTGGCTGGTAGTTGTGAATGTAACGGAGCCCGCCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGGCAACCAGTTGAtggtg                                                            <  2:613101/147‑1 (MQ=255)
                                                                                    gcgtctcATCCAAGGCCTACAACAAATCCTGAGACTGGCAGGTTAGAAGGAAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGGCAACCAGTTGAtggtgg                                                           <  2:132114/146‑1 (MQ=255)
                                                                                         tggtCCGTGGCCTGGAACGTAGCCTGTGGGCTGCAGGTGAGGGGGAAACCCCGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACATGCTTTAACTGCCCGCGCACTGGCAACCAGTTGATGGTGGATAGc                                                      <  2:587192/146‑1 (MQ=255)
                                                                                               aTGGCCTGAAACATATCCTGTGGATGGAGGGGTAGGGGGTAAACTAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGGCAACCAGTTGATGGTGGATAGCCTGATa                                                <  2:487245/149‑1 (MQ=255)
                                                                                                   ccTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGGCAACCAGTTGATGGTGGATAGCCTGATAAACt                                            >  1:429544/1‑149 (MQ=255)
                                                                                                   ccTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGGCAACCAGTTGATGGTGGATAGCCTGATAAACt                                            >  1:307300/1‑149 (MQ=255)
                                                                                                             accccgtgGCGGGTAGTTTAGGGGGTAAAGGCGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGGCAACCATTTGATGGTGGATAGCCTGATAAACTTCCGCCTCGc                                  <  2:492145/144‑1 (MQ=255)
                                                                                                                   tggctggcGGGTGAGGGGGTAAACGCGACCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGGCAACCAGTTGATGGTGGATAGCCTGATAAACTTCCGCCTCGCCActct                            <  2:108315/149‑1 (MQ=255)
                                                                                                                        ggcAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGGCAACCAGTTGATGGTGGATAGCCTGATAAACTTCCGCCTCGCCACTCtcttct                       <  2:73008/149‑1 (MQ=255)
                                                                                                                          cAGGTGAGGGGGTAAACCAGCCAAACGAGAAGCATATCGCCGATTTTCGCTTTGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGCCAACCAGTTGATGGTGGATAGCCTGATAAACTTCCGACTCGCCACTCTCTTCTGc                     <  1:638145/149‑1 (MQ=255)
                                                                                                                                     gTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGATTCGGGGGGCAAGCTATAACAGGCTTTAACTGCCTGCGCACTGGCAACCAGGTGATGGTGCATACCCTGATAAACTCCCGCCTCGCCACTCGCGCCTGCAAGCCCCaatt          >  2:687723/1‑146 (MQ=255)
                                                                                                                                             gCCCACCGAGAAGCATATTGCCCATTTTCGCGTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGGCAACCAGTTGATGGTGGATAGCCCGATAAACTTCCGCCTCGCCACTCTCTTCTGCCAGCCCCACGCCCGTGAAt  <  1:305272/149‑1 (MQ=255)
                                                                                                                                              |                                                                                                                                                   
TGATATTGTGGTCGCGGAAGAAACGCTGCATATAGCCGGGATACTGGCCACGCGCCTGAACATCACCAAAGAACATCCAGCGCCGGTTCTCTTCCATGGCCTGCAACATATCCTGTGGCTGGCAGGTGAGGGGGTAAACCAGCCCACCGAGAAGCATATTGCCGATTTTCGCTTCGGGGAGCAGGCTATGACAGGCTTTAACTGCCCGCGCACTGGCAACCAGTTGATGGTGGATAGCCTGATAAACTTCCGCCTCGCCACTCTCTTCTGCCAGCCCCACGCCCGTGAAT  >  NC_000913_3_hsa_tpiA/3902873‑3903162

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑