Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
MC JC	NC_000913_3_hsa_tpiA	3,815,859	Δ82 bp		[rph]–[rph]	[rph], [rph]

Missing coverage evidence...
			seq id	start	end	size	←reads	reads→	gene	description
*	*	÷	NC_000913_3_hsa_tpiA	3815859	3815940	82	31 [0]	[0] 31	[rph]–[rph]	[rph],[rph]

New junction evidence
		seq id	position	reads (cov)	reads (cov)	score	skew	freq	annotation	gene	product
*	?	NC_000913_3_hsa_tpiA	= 3815858	0 (0.000)	30 (0.670)	28/266	0.7	100%	pseudogene (24/48 nt)	rph	ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH
	?	NC_000913_3_hsa_tpiA	3815941 =	0 (0.000)					pseudogene (609/669 nt)	rph	ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH

CAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATC  >  NC_000913_3_hsa_tpiA/3815796‑3816088                                                                                                                                                  |                                                                                                                                                    ttaacacctgctggcgaagcgcaaatacaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTc                                                                                                                                                  <  2:390619‑M2/4‑1 (MQ=255)   aacacctgcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTccc                                                                                                                                                <  2:662065‑M2/6‑1 (MQ=255)            ttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTc                                                                                                                                       >  2:820295‑M2/135‑149 (MQ=255)              gctaagcgcaaattcaataaactggcgctgggatggtttcatgccttcgctcctcatcttactgttctacagacaaaaaaacgacgactcatcagtcgccttaaaaatcagtttgccagcaccaacctctgcCTACCCCCgcactacca                                                                                                                                     >  2:441318‑M2/133‑145 (MQ=255)                   gcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCaattatc                                                                                                                                >  2:599204‑M2/128‑148 (MQ=255)                             aataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGGGCCCGTCtt                                                                                                                      >  1:708138‑M2/118‑149 (MQ=255)                                    tggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGtcat                                                                                                               >  1:315866‑M2/111‑149 (MQ=255)                                                ggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCCCTACGTTCAt                                                                                                   >  1:14447‑M2/99‑149 (MQ=255)                                                  tttcatgccttcgctcctcatcttacttttgtacggacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCCGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGt                                                                                                 <  2:337566‑M2/53‑1 (MQ=255)                                                      atgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgcctcaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGt                                                                                             >  2:727863‑M2/93‑149 (MQ=255)                                                          cttcgctcatcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccaccgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCCCTACGTTCATGCCCGTctct                                                                                         >  2:105749‑M2/89‑149 (MQ=255)                                                              gctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCgg                                                                                     >  2:414297‑M2/85‑149 (MQ=255)                                                                  ctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCaga                                                                                 <  1:820295‑M2/69‑1 (MQ=255)                                                                  cctatcttacttttctacagccaaaaaaaaggcgactcatcagtctccttaaaaatcattttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCaga                                                                                 <  2:163496‑M2/69‑1 (MQ=255)                                                                       cttacttttcaacacgcaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCtt                                                                            <  2:125006‑M2/74‑1 (MQ=255)                                                                        ttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTc                                                                           >  2:548245‑M2/75‑149 (MQ=255)                                                                         tacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCa                                                                          >  1:299275‑M2/74‑149 (MQ=255)                                                                                                      tcatccgtcgccttaaaaatcagtttgccagcgccgcctcctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGcc                                             <  2:759013‑M2/105‑1 (MQ=255)                                                                                                        atgagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGt                                           <  1:36032‑M2/107‑1 (MQ=255)                                                                                                                  ttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTcc                                 <  2:33161‑M2/117‑1 (MQ=255)                                                                                                                    aaaaagcagtgggcccgcgcggccgtctgcCTGCCCCTGCACTGCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGTCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGa                               <  2:260450‑M2/119‑1 (MQ=255)                                                                                                                         tcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCCTCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCACTTCCCCGTTCACAATTCCGCCAGaa                          >  2:715107‑M2/26‑149 (MQ=255)                                                                                                                            gtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGCCAGAAACt                       >  1:137332‑M2/23‑149 (MQ=255)                                                                                                                             tttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCCAAAACCGCTTCGCCGTTCACAACTCAGACACAACCTg                      >  2:53868‑M2/22‑149 (MQ=255)                                                                                                                              ttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGc                     <  1:61926‑M2/129‑1 (MQ=255)                                                                                                                               ggccagcgccgcctgcggcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCg                    <  2:315866‑M2/130‑1 (MQ=255)                                                                                                                                 ccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGc                  >  1:771466‑M2/18‑149 (MQ=255)                                                                                                                                  cagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTGCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCt                 >  1:361038‑M2/17‑149 (MQ=255)                                                                                                                                  cagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCGCAATTCCGACAGAAACTGCGGCt                 >  1:382104‑M2/17‑149 (MQ=255)                                                                                                                                  cagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCt                 <  1:94714‑M2/133‑1 (MQ=255)                                                                                                                                                 cCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCCTCCCTTTCATc  >  1:188449‑M2/2‑149 (MQ=255)                                                                                                                                                  |                                                                                                                                                    CAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATC  >  NC_000913_3_hsa_tpiA/3815796‑3816088

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: ‑