Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 4,365,594 C→T 8.2% V388I (GTT→ATT)  dcuA ← C4‑dicarboxylate antiporter

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA4,365,5940CT 8.2% 135.0 / 2.6 49V388I (GTT→ATT) dcuAC4‑dicarboxylate antiporter
Reads supporting (aligned to +/- strand):  ref base C (22/23);  new base T (2/2);  total (24/25)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.45e-01

ATTGATCATTACAGCATGAAGCTACCCAGCACGAAGCCGAAGCAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGCCAGAGCCATCGGCATCAGTGCTTTTGCGGTTGCAGCCTGAGAGTACAGCAGAGCAGAAGCAAA  >  NC_000913_3_hsa_tpiA/4365446‑4365741
                                                                                                                                                    |                                                                                                                                                   
aTTGATCATTACAGCATGAAGCTACCCAGCACGAAGCCGAAGCAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTAATCCATCTGTACCGCAGCAAc                                                                                                                                                     >  2:497145/1‑149 (MQ=255)
         tACAGCAGGAAGCTACCCAGCACGAAGCCGAAGCAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCgg                                                                                                                                            <  1:252043/149‑1 (MQ=255)
            aGCATGAAGCGACCCAGCACGAAGTCGAACGAAACGGCAAGGGCTACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACCGGTAGTACCCGTCTCATCCATCTGTACCGCAGCAACCAGCGTCGGTTa                                                                                                                                         <  2:447938/149‑1 (MQ=255)
              cATGAAGCTACCCAGCACGAAGCCGAAGCAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACAGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAgg                                                                                                                                       >  1:653076/1‑149 (MQ=255)
                    gCTACCCAGCACGAAGCCGAAGCAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCa                                                                                                                                 <  1:473967/149‑1 (MQ=255)
                       aCCCAGCACGAAGCCGAAGCAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGaa                                                                                                                              <  1:283522/149‑1 (MQ=255)
                            gCACGAAGCCTAAGCAAACGGCCATGGCAACCCCCAGAGTACCCTGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAAc                                                                                                                         <  1:177639/149‑1 (MQ=255)
                              aCGAAGCCGAAGCAAGCGGCCACGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGGAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACTGCACCAACCAGCGTCGGGTAGACCGACCGACTGAAcag                                                                                                                       >  2:673881/1‑149 (MQ=255)
                                  agccgaagcAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAAcagacca                                                                                                                   <  2:467073/149‑1 (MQ=255)
                                      gaagcAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCAATACGGGTAGTACCCGTGTCATCCATATGTACCGCAGCAACAAGCGTCGGGTACGTCGGCAGAATAAAAAGAGCAGcca                                                                                                               >  1:318191/1‑149 (MQ=255)
                                       aagcAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAATCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGacac                                                                                                              >  2:631660/1‑149 (MQ=255)
                                       aagcAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAATCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGacac                                                                                                              >  2:631606/1‑149 (MQ=255)
                                       aagcAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTGGGGTAGGTCGGCAGAATGAACCGACCAGacac                                                                                                              >  1:470329/1‑149 (MQ=255)
                                       aagcAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGacac                                                                                                              >  1:668791/1‑149 (MQ=255)
                                       aagcAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGacac                                                                                                              >  1:265516/1‑149 (MQ=255)
                                       aagcAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATGTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGacac                                                                                                              >  1:470318/1‑149 (MQ=255)
                                            aaCGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGAAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGAAACCGCAg                                                                                                         >  2:263683/1‑149 (MQ=255)
                                                      gCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGc                                                                                               <  2:618760/149‑1 (MQ=255)
                                                            cccAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGGCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAAcagc                                                                                         >  1:575515/1‑149 (MQ=255)
                                                               agagTACCCGGTATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAAcagcggt                                                                                      <  1:47215/149‑1 (MQ=255)
                                                                    aCCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAAcagcggtcagcg                                                                                 <  1:30783/149‑1 (MQ=255)
                                                                      ccGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAAcagcggtcagcggt                                                                               <  1:396503/149‑1 (MQ=255)
                                                                      ccGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAAcagcggtcagcggt                                                                               <  1:189028/149‑1 (MQ=255)
                                                                      ccGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAAcagcggtcagcggt                                                                               >  1:181033/1‑149 (MQ=255)
                                                                           aTGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGGACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAAc                                                                          <  1:116241/149‑1 (MQ=255)
                                                                           aTGAAAAACGGATAGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTATGTCGGCAGAATGAACAGACCAGACACCGCATCTAAAGAAGCAACAGCGGTCAGCGGTGAAAc                                                                          <  1:214934/149‑1 (MQ=255)
                                                                              aagaaCGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGtt                                                                       >  1:119830/1‑149 (MQ=255)
                                                                                gaaCGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCa                                                                     <  1:578557/149‑1 (MQ=255)
                                                                                  aCGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGt                                                                   <  1:510804/149‑1 (MQ=255)
                                                                                     gATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGCACACGCTAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGcc                                                                <  1:657016/149‑1 (MQ=255)
                                                                                      aTGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAATCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGCCa                                                               <  1:631606/149‑1 (MQ=255)
                                                                                      aTGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAATCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGCCa                                                               <  1:631660/149‑1 (MQ=255)
                                                                                      aTGGTGGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGCCa                                                               <  2:453176/149‑1 (MQ=255)
                                                                                        ggTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGCCaga                                                             <  1:403751/149‑1 (MQ=255)
                                                                                         gTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAGCGTTCAGTGCCagag                                                            >  1:10574/1‑149 (MQ=255)
                                                                                         gTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGATCAGTGCCagcg                                                            >  1:52504/1‑147 (MQ=255)
                                                                                             aaGACGAATTTACCGATACGGGTAGTACCCGTGTCAGCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGCCAGAGCCAt                                                        <  1:205708/149‑1 (MQ=255)
                                                                                                aCGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGCCAAAGCCAACgg                                                     >  2:515686/1‑149 (MQ=255)
                                                                                                     tttACGGGTACGGGTAGGACCTGTGTGATTCGACTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGCTTAAACGTTCAGTGCCAGAGCCATCGGCATCa                                                <  2:318191/149‑1 (MQ=255)
                                                                                                       gaCCGAAACGGTCAGTACCCGTGCCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCATACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGCCAGAGCCATCGGCATCAGt                                              <  1:189030/148‑1 (MQ=255)
                                                                                                            aTACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGGGCCAGAGCCATCGGCATCAGTGCttt                                         >  1:117704/1‑149 (MQ=255)
                                                                                                            aTACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGACGACAGAATGAACAGACCAGACACCGCAGCGAAAGGAGCAACCGCGGACACCGGCGAAACGTTCAGTGCCAGAGCCATCGGCCTACGTGCttt                                         >  2:479475/1‑149 (MQ=255)
                                                                                                                gggTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGCCAGAGCCATCGGCATCCGTGCTTTTGCg                                     >  2:328639/1‑149 (MQ=255)
                                                                                                                      taCCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACGCCGCAGCGAAAAAAGCAACAGCGGTAAGCGGTGAAACGTTCAGTGCAAAAGCCATCGGCATCAGTGCTTTTGCGGTTGCa                               >  2:129400/1‑149 (MQ=255)
                                                                                                                              tCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAACCGTTCAGTGCCAGAGCCATCGGCATCAGTGCTTTTGCAGCTGCAGCCTgaga                       >  2:92380/1‑149 (MQ=255)
                                                                                                                                    accttaaCCGCAGCAACCAGCGTCGGGTAGGTCCGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGCCAGAGCCATCGGCATCAGTGCTTTTGCGGTTGCAGCCTGAGAGTAcag                 <  2:50761/143‑1 (MQ=255)
                                                                                                                                       tGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGTAACATTCAGTGCCAGAGCCATCGGCATCAGTGCTTTTGCGGTTGCAGCCTGAGAGTAcagcag              >  2:642752/1‑149 (MQ=255)
                                                                                                                                       tGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACAAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGCCAGAGCCATCGGCCTCAGTGCTTTTGCGGTTGCAGGCTGAGAGTActgctg              >  2:681521/1‑147 (MQ=255)
                                                                                                                                              cagcaACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGCCAGAGCCATCGGCATCAGTGCTTTTGCGGTTGCAGCCTGAGAGTACAGCAGAGCAGaa       <  2:571963/149‑1 (MQ=255)
                                                                                                                                                   aCCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTAGGCGGTGAAACGTTCAGTGCCAGAGCCATCGGCATCAGTGCTTTTGCGGTTGCAGCCTGAGAGTACAGCAGAGCAGAAGCaaa  >  1:272488/1‑149 (MQ=255)
                                                                                                                                                    |                                                                                                                                                   
ATTGATCATTACAGCATGAAGCTACCCAGCACGAAGCCGAAGCAAACGGCCAGGGCAACACCCAGAGTACCCGGGATGAAGAACGGATGGTTGAAGACGAATTTACCGATACGGGTAGTACCCGTGTCATCCATCTGTACCGCAGCAACCAGCGTCGGGTAGGTCGGCAGAATGAACAGACCAGACACCGCAGCGAAAGAAGCAACAGCGGTCAGCGGTGAAACGTTCAGTGCCAGAGCCATCGGCATCAGTGCTTTTGCGGTTGCAGCCTGAGAGTACAGCAGAGCAGAAGCAAA  >  NC_000913_3_hsa_tpiA/4365446‑4365741

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑