##fileformat=VCFv4.2
##fileDate=20260425
##source=https://mitomap.org/cgi-bin/disease.cgi?format=vcf
##reference=http://www.ncbi.nlm.nih.gov/nuccore/251831106
##frequentHaplogroupCriteria=https://mitomap.org/MITOMAP/HiFreqHGcalc
##contig=<ID=MT,length=16569,assembly=B37>
##INFO=<ID=AC,Number=A,Type=Float,Description="Allele count in GenBank out of 65286 full length (FL) human chrM sequences">
##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency in full length (FL) Genbank sequence set">
##INFO=<ID=aachange,Number=A,Type=String,Description="aa change">
##INFO=<ID=homoplasmy,Number=A,Type=String,Description="homoplasmy">
##INFO=<ID=heteroplasmy,Number=A,Type=String,Description="heteroplasmy">
##INFO=<ID=PubmedIDs,Number=.,Type=Integer,Description="Pubmed IDs">
##INFO=<ID=Disease,Number=.,Type=String,Description="Putative Disease Association">
##INFO=<ID=DiseaseStatus,Number=.,Type=String,Description="Disease Association Status">
##INFO=<ID=HGFL,Number=A,Type=String,Description="Haplogroups with high variant frequency (HG:count/percent) in full length sequences">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
MT	72	.	T	C	.	.	AC=1167;AF=1.7875;aachange=noncoding;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=37793469;Disease=Protective-factor-for-stroke-risk-(hg-V);DiseaseStatus=Reported;HGFL=HV0:241/91.29|HV2:42/56.76|V1:114/82.61|V10:25/89.29|V12:9/90.00|V13:12/100.00|V15:14/87.50|V16:19/100.00|V18:21/95.45|V2:46/90.20|V22:20/95.24|V25:26/89.66|V3:47/90.38|V5:12/100.00|V7:93/81.58|V8:14/87.50|V9:25/75.76
MT	114	.	C	T	.	.	AC=273;AF=0.4182;aachange=noncoding;homoplasmy=+;heteroplasmy=-;PubmedIDs=19290059;Disease=BD-associated;DiseaseStatus=Reported;HGFL=H8:44/61.97
MT	146	.	T	C	.	.	AC=12693;AF=19.4421;aachange=noncoding;homoplasmy=+;heteroplasmy=-;PubmedIDs=29124462;Disease=Absence-of-Endometriosis;DiseaseStatus=Reported;HGFL=A2:1147/95.50|A8:19/67.86|B4:2582/77.31|H31:49/96.08|H8:71/100.00|HV14:40/67.80|K2:360/95.24|L0:975/56.16|L2:1461/87.02|L4:81/60.90|L6:14/100.00|M24:59/93.65|M44:12/100.00|M45:26/83.87|M46:16/100.00|N13:12/85.71|N3:22/100.00|P4:47/55.29|Q1:648/95.29|R21:19/100.00|X1:20/100.00|X3:22/100.00|Y1:144/96.00
MT	150	.	C	T	.	.	AC=8380;AF=12.8358;aachange=noncoding;homoplasmy=+;heteroplasmy=+;PubmedIDs=12538859+11404057+12606714+15483642+21262335+16857160+21319252+21385627+29467576+24792352+32513025;Disease=Longevity-/-Cervical-Carcinoma-/-HPV-infection-risk-/-PCOS-patient;DiseaseStatus=Conflicting-reports;HGFL=D5:422/96.79|F3:189/58.88|HV14:42/71.19|J2:819/98.56|L3:1425/55.56|M32:144/86.75|M51:73/97.33|M62:24/88.89|N11:14/63.64|N21:45/100.00|N22:21/87.50|N9:338/84.92|S1:18/56.25|U3:429/97.95|U5:1299/50.98|V22:21/100.00
MT	195	.	T	C	.	.	AC=12461;AF=19.0868;aachange=noncoding;homoplasmy=+;heteroplasmy=+;PubmedIDs=19290059+22174736+27217714;Disease=BD-associated-/-melanoma-pts;DiseaseStatus=Reported;HGFL=E2:93/100.00|H11:256/95.52|H12:10/76.92|H31:49/96.08|H44:18/69.23|H8:67/94.37|H82:9/90.00|HV0:159/60.23|HV2:43/58.11|J2:455/54.75|L0:916/52.76|L1:790/77.68|L2:1523/90.71|L5:40/71.43|M1:273/87.50|M2:195/75.58|M23:225/96.57|M24:59/93.65|M28:126/97.67|M66:14/100.00|M69:14/93.33|N21:42/93.33|Q2:71/98.61|R8:98/92.45|S2:14/58.33|T1:528/61.54|U4:751/96.65|W1:231/93.90|W3:141/89.81|W4:42/84.00|W5:59/84.29|W6:113/97.41|X2:637/97.70
MT	309	.	C	CC,CCC	.	.	AC=712,253;AF=1.0906,0.3875;aachange=noncoding,noncoding;homoplasmy=nr,nr;heteroplasmy=nr,nr;PubmedIDs=19703591,22174736;Disease=AD-weakly-associated,Higher-in-melanoma-patient-group;DiseaseStatus=Reported,Reported
MT	310	.	T	C	.	.	AC=25373;AF=38.8644;aachange=noncoding;PubmedIDs=30312593;Disease=Possible-protective-factor-for-normal-tension-glaucoma;DiseaseStatus=Reported;HGFL=A13:14/51.85|A2:729/60.70|A5:76/63.87|B2:770/66.32|C1:617/64.74|D2:56/56.57|H10:152/63.33|H101:7/50.00|H13:244/63.38|H14:57/52.29|H15:79/68.70|H2:533/56.16|H29:6/54.55|H31:26/50.98|H35:22/73.33|H40:16/69.57|H41:28/77.78|H44:16/61.54|H49:37/71.15|H52:11/50.00|H56:18/52.94|H6:283/57.64|H73:7/58.33|H79:10/62.50|H8:37/52.11|HV1:96/60.00|HV13:11/57.89|HV14:51/86.44|HV15:10/90.91|HV16:15/83.33|HV18:10/83.33|HV2:46/62.16|HV4:80/76.92|HV6:17/65.38|I3:57/71.25|L6:8/57.14|M1:166/53.21|M11:26/60.47|M12:74/51.03|M33:54/58.06|M34:7/63.64|M36:33/82.50|M38:18/64.29|M39:33/73.33|M44:8/66.67|M45:19/61.29|M46:11/68.75|M53:23/85.19|M54:6/54.55|M57:15/88.24|M61:14/53.85|M62:19/70.37|M66:7/50.00|M72:13/59.09|M8:57/51.35|M91:16/64.00|N2:7/63.64|N7:10/66.67|N9:231/58.04|P9:11/84.62|R0:194/57.91|R1:42/57.53|R2:53/66.25|R8:72/67.92|T1:436/50.82|U2:308/52.56|U7:267/54.71|U8:104/59.43|V1:101/73.19|V10:23/82.14|V12:8/80.00|V13:11/91.67|V15:11/68.75|V18:17/77.27|V2:27/52.94|V22:20/95.24|V25:16/55.17|V3:41/78.85|V5:11/91.67|V7:77/67.54|V8:12/75.00|V9:17/51.52|W3:99/63.06|W6:64/55.17|X1:11/55.00|Y1:104/69.33|Y2:38/60.32|Z1:69/60.53|Z3:78/61.90
MT	315	.	C	CC	.	.	AC=19432;AF=29.7644;aachange=noncoding;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=22174736;Disease=Melanoma-patients;DiseaseStatus=Reported;HGFL=A1:8/53.33|A14:22/57.89|D3:26/57.78|H100:12/75.00|H104:9/81.82|H12:8/61.54|H16:57/50.00|H18:25/59.52|H27:64/60.38|H28:30/51.72|H34:7/50.00|H36:15/51.72|H42:15/68.18|H61:10/83.33|H65:7/58.33|H66:7/58.33|H82:7/70.00|HV5:6/50.00|K2:218/57.67|L4:78/58.65|L5:28/50.00|M18:17/50.00|M20:58/70.73|M23:124/53.22|M26:7/63.64|M49:30/71.43|M55:8/57.14|M60:7/50.00|M68:23/65.71|M69:12/80.00|M70:8/61.54|N22:13/54.17|N3:11/50.00|R22:34/55.74
MT	351	.	A	G	.	.	AC=0;AF=0.0000;aachange=noncoding;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32504279;Disease=Patient-with-CPEO;DiseaseStatus=Reported
MT	499	.	G	A	.	.	AC=2429;AF=3.7206;aachange=noncoding;homoplasmy=+;heteroplasmy=-;PubmedIDs=23096691+29124462;Disease=Endometriosis-/-possible-protective-factor-for-high-altitude-sicknes;DiseaseStatus=Reported;HGFL=B2:1144/98.54|U4:763/98.20|U9:23/95.83
MT	547	.	A	T	.	.	AC=0;AF=0.0000;aachange=noncoding;homoplasmy=+;heteroplasmy=-;PubmedIDs=28267784;Disease=Tubulointerstitial-kidney-disease;DiseaseStatus=Reported
MT	573	.	C	CCC	.	.	AC=686;AF=1.0508;aachange=noncoding;homoplasmy=+;heteroplasmy=-;PubmedIDs=29124462;Disease=Absence-of-Endometriosis;DiseaseStatus=Reported
MT	576	.	A	G	.	.	AC=3;AF=0.0046;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	578	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=nr;heteroplasmy=+;PubmedIDs=31965079+27119776;Disease=Unspecified-patient-from-clinical-lab-/-MS;DiseaseStatus=Reported-[VUS-]
MT	582	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=14659412+19718780+17878308;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported
MT	583	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9771776+31965079+16806928+19718780+17878308;Disease=MELAS-/-MM-&-EXIT;DiseaseStatus=Cfrm-[VUS*]
MT	586	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+21060018+19718780+31687337+31463198+31534910;Disease=Extrapyramidal-disorder-with-akinesia-rigidity+-psychosis-and-SNHL;DiseaseStatus=Reported-[VUS]
MT	590	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=32419253;Disease=EXIT+ataxia+RP;DiseaseStatus=Reported-[VUS]
MT	591	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=+;PubmedIDs=34607911+40241304;Disease=Gitelman-like-syndrome;DiseaseStatus=Cfrm-[LP]
MT	593	.	T	C	.	.	AC=334;AF=0.5116;homoplasmy=+;heteroplasmy=-;PubmedIDs=22039503+22110754+31965079+28579530+33552719+34053002+34120304+36563715;Disease=Nonsyndromic-hearing-loss-/-LHON-/-PCOS-patient;DiseaseStatus=Reported
MT	602	.	C	T	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=21424749+22781547;Disease=Axial-myopathy-with-encephalopathy;DiseaseStatus=Reported
MT	606	.	A	G	.	.	AC=26;AF=0.0398;homoplasmy=+;heteroplasmy=+;PubmedIDs=9066365+31965079+14733964+10611123+17878308;Disease=Myoglobinuria;DiseaseStatus=Unclear
MT	608	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=11231339+22781547+17878308;Disease=Tubulo-interstitial-nephritis;DiseaseStatus=Reported-[VUS]
MT	611	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=15184630+20142618+19718780+17878308;Disease=MERRF;DiseaseStatus=Reported-[VUS]
MT	616	.	T	C,G	.	.	AC=1,1;AF=0.0015,0.0015;homoplasmy=+,+;heteroplasmy=+,+;PubmedIDs=31965079+20142618+28267784+31722346+35472031+34607911,20142618;Disease=Maternally-inherited-epilepsy-/-mito-tubulointerstitial-kidney-disease-(MITKD)-/-Gitelman-like-syndrome,Maternally-inherited-epilepsy;DiseaseStatus=Cfrm-[LP],Reported-[VUS]
MT	617	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=19091329;Disease=Carotid-artery-stenosis;DiseaseStatus=Reported
MT	618	.	T	C,G	.	.	AC=0,0;AF=0.0000,0.0000;homoplasmy=-,-;heteroplasmy=+,+;PubmedIDs=9636664+31965079+17878308,21882289;Disease=MM,Ptosis-CPEO-MM-&-EXIT;DiseaseStatus=Reported-[VUS],Reported
MT	622	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=16769874+19718780+17878308;Disease=EXIT-&-Deafness;DiseaseStatus=Reported-[VUS]
MT	625	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=21914246;Disease=SNHL-&-Epilepsy;DiseaseStatus=Reported
MT	628	.	C	T	.	.	AC=3;AF=0.0046;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+22979943;Disease=DEAF;DiseaseStatus=Reported
MT	636	.	A	G	.	.	AC=20;AF=0.0306;homoplasmy=+;heteroplasmy=-;PubmedIDs=23847141+27498855+18790089;Disease=DEAF;DiseaseStatus=Reported
MT	641	.	A	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31009750;Disease=Epileptic-Encephalopathy;DiseaseStatus=Reported
MT	642	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=18977334;Disease=Ataxia+-PEO+-deafness;DiseaseStatus=Reported
MT	643	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=34607911;Disease=Gitelman-like-syndrome;DiseaseStatus=Reported
MT	652	.	GG	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=28951770+29670672;Disease=Atherosclerosis-risk;DiseaseStatus=Reported
MT	653	.	G	GG	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=29670672;Disease=Atherosclerosis-study;DiseaseStatus=Reported
MT	663	.	A	G	.	.	AC=1826;AF=2.7969;homoplasmy=+;heteroplasmy=-;PubmedIDs=21099167;Disease=Coronary-atherosclerosis-risk;DiseaseStatus=Reported;HGFL=A1:15/100.00|A11:38/95.00|A12:13/100.00|A13:27/100.00|A14:37/97.37|A15:79/100.00|A17:46/95.83|A2:1199/99.83|A21:12/92.31|A5:118/99.16|A6:20/100.00|A8:28/100.00
MT	669	.	T	C	.	.	AC=121;AF=0.1853;homoplasmy=+;heteroplasmy=-;PubmedIDs=19371214+17637808+20353758+18851951;Disease=DEAF;DiseaseStatus=Reported
MT	721	.	T	C	.	.	AC=144;AF=0.2206;homoplasmy=+;heteroplasmy=-;PubmedIDs=20211276;Disease=Possibly-LVNC-associated;DiseaseStatus=Reported
MT	735	.	A	G	.	.	AC=77;AF=0.1179;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=20055758+23301511;Disease=DEAF;DiseaseStatus=Reported;HGFL=A14:38/100.00
MT	745	.	A	G	.	.	AC=39;AF=0.0597;homoplasmy=+;heteroplasmy=-;PubmedIDs=20100600;Disease=DEAF-associated;DiseaseStatus=Reported
MT	747	.	A	G	.	.	AC=11;AF=0.0168;homoplasmy=+;heteroplasmy=-;PubmedIDs=21205314;Disease=DEAF-associated;DiseaseStatus=Reported
MT	750	.	A	A	.	.	AC=936;AF=1.4337;homoplasmy=+;heteroplasmy=-;PubmedIDs=19290059;Disease=SZ-associated;DiseaseStatus=Reported
MT	773	.	T	C	.	.	AC=6;AF=0.0092;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	792	.	C	T	.	.	AC=5;AF=0.0077;homoplasmy=+;heteroplasmy=-;PubmedIDs=20100600;Disease=Increased-risk-of-nonsyndromic-deafness;DiseaseStatus=Reported
MT	801	.	A	G	.	.	AC=8;AF=0.0123;homoplasmy=+;heteroplasmy=-;PubmedIDs=20100600;Disease=DEAF-associated;DiseaseStatus=Reported
MT	827	.	A	G	.	.	AC=1679;AF=2.5718;homoplasmy=+;heteroplasmy=-;PubmedIDs=19144107+20722495+15286157+15841390+16528519+18261986+18790089+19371214+16650816+20353758+20100600+18611982+21495045+17489842+30523288+27230773+16782057+27654872;Disease=DEAF;DiseaseStatus=Conflicting-reports;HGFL=B2:1157/99.66
MT	839	.	A	G	.	.	AC=7;AF=0.0107;homoplasmy=+;heteroplasmy=-;PubmedIDs=20100600+21205314;Disease=DEAF-associated;DiseaseStatus=Reported
MT	850	.	T	C	.	.	AC=124;AF=0.1899;homoplasmy=+;heteroplasmy=-;PubmedIDs=20211276;Disease=Possibly-LVNC-associated;DiseaseStatus=Reported
MT	856	.	A	G	.	.	AC=18;AF=0.0276;homoplasmy=+;heteroplasmy=-;PubmedIDs=8728098+19703591+20100600;Disease=LHON-helper-/-AD-/-DEAF-associated;DiseaseStatus=Reported
MT	869	.	C	T	.	.	AC=93;AF=0.1425;homoplasmy=+;heteroplasmy=-;PubmedIDs=16266762;Disease=found-in-1-HCM-patient;DiseaseStatus=Reported
MT	921	.	T	C	.	.	AC=465;AF=0.7123;homoplasmy=+;heteroplasmy=-;PubmedIDs=20211276+27217714;Disease=Possibly-LVNC-associated;DiseaseStatus=Reported
MT	955	.	A	C	.	.	AC=2;AF=0.0031;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	959	.	CC	C	.	.	AC=60;AF=0.0919;homoplasmy=+;heteroplasmy=-;PubmedIDs=18851951;Disease=Possibly-DEAF-associated;DiseaseStatus=Reported
MT	960	.	C	CC	.	.	AC=405;AF=0.6203;homoplasmy=+;heteroplasmy=-;PubmedIDs=12394346+19371214+18851951+30523288+27654872;Disease=Possibly-DEAF-associated;DiseaseStatus=Reported
MT	961	.	T	C,CC,G	.	.	AC=574,0,235;AF=0.8792,0.0000,0.3600;homoplasmy=+,+,+;heteroplasmy=-,+,-;PubmedIDs=7550368+15841390+16528519+18325329+19371214+20100600+17489842+29336589+27654872,8104867+14681830+7550368+10220138+19144107+24092330+14581685+10326749+12037390+12394346+16120283+18790089+19703591+15917167+18851951+20100600+21495045+17489842+19705751+30053855+27654872,15286157+18851951+30523288+23013294+23969527+19705751+27654872;Disease=DEAF+-possibly-LVNC-associated,DEAF-/-AD-associated-/-intellectual-disability,Possibly-DEAF-associated;DiseaseStatus=Unclear,Reported-[LB],Unclear;HGFL=L6:13/92.86|M44:12/100.00,.,H11:234/87.31
MT	965	.	C	CC	.	.	AC=1;AF=0.0015;homoplasmy=+;heteroplasmy=-;PubmedIDs=14681830+14581685+14699607+10326749+12037390+12394346+15126302+15841390+16380089+20100600+30523288+19705751;Disease=DEAF;DiseaseStatus=Unclear
MT	988	.	G	A	.	.	AC=58;AF=0.0888;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=20353758;Disease=Possible-DEAF-risk-factor;DiseaseStatus=Reported
MT	990	.	T	C	.	.	AC=47;AF=0.0720;homoplasmy=+;heteroplasmy=-;PubmedIDs=18790089;Disease=DEAF;DiseaseStatus=Reported
MT	1005	.	T	C	.	.	AC=289;AF=0.4427;homoplasmy=+;heteroplasmy=-;PubmedIDs=27498855+15841390+16528519+17489842+19705751;Disease=DEAF;DiseaseStatus=Unclear;HGFL=A11:29/72.50|F2:196/98.00|N3:22/100.00
MT	1027	.	A	G	.	.	AC=23;AF=0.0352;homoplasmy=+;heteroplasmy=-;PubmedIDs=20100600+21205314;Disease=DEAF-associated;DiseaseStatus=Reported-[VUS]
MT	1095	.	T	C	.	.	AC=68;AF=0.1042;homoplasmy=+;heteroplasmy=+;PubmedIDs=11313749+11079536+16947981+19144107+15555598+15637703+15841390+16528519+18325329+20100600+21495045+17489842+16875663+30523288+19705751+27654872+21205314;Disease=SNHL;DiseaseStatus=Unclear;HGFL=M11:41/95.35
MT	1116	.	A	G	.	.	AC=10;AF=0.0153;homoplasmy=+;heteroplasmy=-;PubmedIDs=15841390+17489842;Disease=DEAF;DiseaseStatus=Reported
MT	1119	.	T	C	.	.	AC=338;AF=0.5177;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=23096691;Disease=Possible-role-in-high-altitude-sickness;DiseaseStatus=Reported
MT	1180	.	T	G	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=24092330+15286157;Disease=Possibly-DEAF-associated;DiseaseStatus=Reported
MT	1192	.	C	A,T	.	.	AC=15,15;AF=0.0230,0.0230;homoplasmy=+,+;heteroplasmy=-,-;PubmedIDs=27498855+20100600,20100600;Disease=DEAF-associated,DEAF-associated;DiseaseStatus=Reported,Reported
MT	1226	.	C	G	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=24092330+15286157;Disease=Possibly-DEAF-associated;DiseaseStatus=Reported
MT	1227	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=41184543;Disease=Translation-disruption-in-cancer-cells;DiseaseStatus=Reported
MT	1291	.	T	C	.	.	AC=56;AF=0.0858;homoplasmy=+;heteroplasmy=-;PubmedIDs=16458854+16574076+16777068;Disease=DEAF;DiseaseStatus=Unclear
MT	1310	.	C	T	.	.	AC=39;AF=0.0597;homoplasmy=+;heteroplasmy=-;PubmedIDs=20100600+21205314;Disease=DEAF-associated;DiseaseStatus=Reported
MT	1331	.	A	G	.	.	AC=20;AF=0.0306;homoplasmy=+;heteroplasmy=-;PubmedIDs=20100600;Disease=DEAF-associated;DiseaseStatus=Reported
MT	1349	.	T	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;Disease=DEAF;DiseaseStatus=Reported
MT	1374	.	A	G	.	.	AC=1;AF=0.0015;homoplasmy=+;heteroplasmy=-;PubmedIDs=24092330+20100600;Disease=DEAF-associated;DiseaseStatus=Reported
MT	1382	.	A	C	.	.	AC=202;AF=0.3094;homoplasmy=+;heteroplasmy=-;PubmedIDs=26289118+33468709;Disease=Longevity-/-T2D-susceptibility;DiseaseStatus=Reported
MT	1391	.	T	C	.	.	AC=140;AF=0.2144;homoplasmy=+;heteroplasmy=+;PubmedIDs=16266762;Disease=found-in-1-HCM-patient;DiseaseStatus=Reported;HGFL=R1:71/97.26
MT	1413	.	T	C	.	.	AC=92;AF=0.1409;homoplasmy=+;heteroplasmy=-;PubmedIDs=21205314;Disease=DEAF-associated;DiseaseStatus=Reported;HGFL=L4:68/51.13
MT	1420	.	T	G	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=+;Disease=DEAF;DiseaseStatus=Reported
MT	1438	.	A	A	.	.	AC=2910;AF=4.4573;homoplasmy=+;heteroplasmy=-;PubmedIDs=19290059;Disease=SZ-associated;DiseaseStatus=Reported
MT	1452	.	T	C	.	.	AC=55;AF=0.0842;homoplasmy=+;heteroplasmy=-;PubmedIDs=20100600;Disease=DEAF-associated;DiseaseStatus=Reported
MT	1453	.	A	G	.	.	AC=114;AF=0.1746;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=20353758;Disease=Possible-DEAF-risk-factor;DiseaseStatus=Reported
MT	1492	.	A	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;Disease=DEAF;DiseaseStatus=Reported
MT	1494	.	C	T	.	.	AC=5;AF=0.0077;homoplasmy=+;heteroplasmy=-;PubmedIDs=14681830+16947981+16826519+19144107+20860455+25838379+25837512+29253894+24092330+15126302+15722487+16380089+17434445+17698030+17698299+18308926+18325329+16458854+19687236+20100600+16890911+21495045+17489842+21047563+29707576+28901477+30523288+20209292+30693673+27654872+34467602+32400865+37988592+21205314;Disease=DEAF;DiseaseStatus=Cfrm-[LP]
MT	1517	.	A	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=18325329;Disease=DEAF;DiseaseStatus=Reported
MT	1537	.	C	T	.	.	AC=9;AF=0.0138;homoplasmy=+;heteroplasmy=-;PubmedIDs=17637808;Disease=DEAF|-intellectual-disability;DiseaseStatus=Reported
MT	1544	.	A	T	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=24092330;Disease=DEAF;DiseaseStatus=Reported
MT	1546	.	A	T	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;Disease=DEAF;DiseaseStatus=Reported
MT	1554	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;Disease=DEAF;DiseaseStatus=Reported
MT	1555	.	A	G	.	.	AC=87;AF=0.1333;homoplasmy=+;heteroplasmy=+;PubmedIDs=8285309+8414970+7689389+7649544+9040738+9490575+9164619+9391883+9831149+9777488+9887373+9915970+10414625+10521300+9779807+7550368+8800928+10788333+11388757+10220138+12031626+16947981+9315872+16826519+18154640+18674747+19144107+20860455+22341444+23774020+23847141+25838379+25837512+25313049+26404827+28049726+29253894+24092330+30369864+37587338+12711217+15179218+12372057+12655418+14699607+12370316+10905659+12011058+10326749+8817331+12955586+12054632+10915767+11230176+10577941+14755216+12394346+15286157+15126302+15708009+15841390+16375862+16168391+16152638+16406239+16528519+10760311+10854117+18308926+18325329+12920080+16132471+18386806+18215147+16513084+8797567+11174059+9950117+10739773+11857751+15542390+10633132+9111378+8973709+16631122+16458854+16574076+16777068+16955413+17999439+18820594+18282333+19026397+18790089+19371214+17637808+11215518+15292920+17341440+19370763+19687236+19818876+20353758+8687424+10424809+20100600+18775412+20064630+20123042+17452034+21456129+21162657+21495045+20111055+17489842+21621438+21725156+21838605+21504270+22475488+19376484+29182774+27308839+21047563+17723226+29348176+28951770+29707576+29336589+29340697+30272361+29670672+23395464+25834827+19082356+28320335+30523288+19705751+30693673+31540444+23301511+18930888+26361786+32991883+32867169+27654872+34467602+26741492+22567359+35614445+34732400+36292680+37737178+32400865+37988592+30671084+38465286+21205314;Disease=DEAF|-autism-spectrum-intellectual-disability|-possibly-antiatherosclerotic;DiseaseStatus=Cfrm-[P]
MT	1556	.	C	T	.	.	AC=13;AF=0.0199;homoplasmy=+;heteroplasmy=-;PubmedIDs=16266762;Disease=found-in-1-HCM-patient;DiseaseStatus=Reported
MT	1575	.	T	G	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;Disease=DEAF;DiseaseStatus=Reported
MT	1577	.	T	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;Disease=DEAF;DiseaseStatus=Reported
MT	1606	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9450773+31965079+12056939+20064630+29340697+35148219;Disease=AMDF-/-retinal-degeneration;DiseaseStatus=Cfrm-[VUS*]
MT	1607	.	T	C	.	.	AC=13;AF=0.0199;homoplasmy=+;heteroplasmy=+;PubmedIDs=31965079+23463613;Disease=Suspected-mito-disease;DiseaseStatus=Reported
MT	1608	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=37950446+38039349+38039350;Disease=Leigh-Sydrome-/-Parkinsonism-with-dystonia;DiseaseStatus=Reported
MT	1612	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=33082984;Disease=LVNC-(left-ventricular-noncompaction);DiseaseStatus=Reported-as-VUS
MT	1616	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=28893805;Disease=MELAS;DiseaseStatus=Reported
MT	1624	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=11799391+17886296+25652200+31965079+18400783+32970680;Disease=Leigh-Syndrome;DiseaseStatus=Cfrm-[LP]
MT	1630	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=19252805+29428506+31965079+21540128+23463613+30815362+31181796+30709774+30809469+40115461;Disease=MNGIE-like-disease-/-MELAS-/-epilepsy;DiseaseStatus=Cfrm-[VUS*]
MT	1636	.	A	G	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+39243325;Disease=Global-developmental-delay+-CMT-disease+-progressive-myoclonic-epilepsy+-paroxysmal-arrhythmia+-and-brain-atrophy;DiseaseStatus=Reported
MT	1640	.	A	G	.	.	AC=3;AF=0.0046;homoplasmy=+;heteroplasmy=+;PubmedIDs=23301511;Disease=MELAS;DiseaseStatus=Reported
MT	1642	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9443499+8797538;Disease=MELAS;DiseaseStatus=Reported
MT	1643	.	A	G	.	.	AC=2;AF=0.0031;homoplasmy=+;heteroplasmy=+;PubmedIDs=22638997+31965079;Disease=Late-infantile-onset-fatal-mito-disease;DiseaseStatus=Reported
MT	1644	.	G	A,T	.	.	AC=0,0;AF=0.0000,0.0000;homoplasmy=-,-;heteroplasmy=+,+;PubmedIDs=23847141+31965079+34298071+15320572+18314141+24691472,9270602;Disease=Leigh-Syndrome-/-HCM-/-MELAS,Adult-Leigh-Syndrome;DiseaseStatus=Cfrm-[LP],Reported
MT	1659	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+15465092+38973423;Disease=Movement-Disorder;DiseaseStatus=Reported-[VUS]
MT	1661	.	A	G	.	.	AC=1;AF=0.0015;homoplasmy=+;heteroplasmy=-;PubmedIDs=28027978+32715519;Disease=Charcot-Marie-Tooth-(CMT);DiseaseStatus=Reported-[VUS]
MT	2156	.	A	AA	.	.	AC=207;AF=0.3171;homoplasmy=-;heteroplasmy=+;PubmedIDs=7723627+16895436+16714301+29343773+22333566+33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported;HGFL=A5:70/58.82|M31:25/83.33
MT	2158	.	T	C	.	.	AC=253;AF=0.3875;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=23645593+30369864;Disease=Reduced-risk-PD;DiseaseStatus=Reported
MT	2336	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=30196098+24367055;Disease=Hypertrophic-cardiomyopathy;DiseaseStatus=Reported
MT	2352	.	T	C	.	.	AC=1731;AF=2.6514;homoplasmy=+;heteroplasmy=-;PubmedIDs=27498855+32658146+20211276+27217714+36563715;Disease=Possibly-LVNC-associated-/-fibromyalgia-/-PCOS-patient;DiseaseStatus=Reported;HGFL=M73:55/100.00
MT	2361	.	G	A	.	.	AC=155;AF=0.2374;homoplasmy=+;heteroplasmy=-;PubmedIDs=20211276;Disease=Possibly-LVNC-associated;DiseaseStatus=Reported;HGFL=M33:91/97.85
MT	2492	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	2639	.	C	A,T	.	.	AC=1,172;AF=0.0015,0.2635;homoplasmy=+,+;heteroplasmy=-,-;PubmedIDs=27217714,38757793+38520065;Disease=Rare-mutation-in-a-single-POAG-patient,Proposed-hg-specific-mitigation-of-APOE4-pathogenicity;DiseaseStatus=Reported,Reported
MT	2647	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	2648	.	T	C	.	.	AC=1;AF=0.0015;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32105570;Disease=Rett-Syndrome;DiseaseStatus=Reported
MT	2706	.	A	A	.	.	AC=13766;AF=21.0857;homoplasmy=+;heteroplasmy=-;PubmedIDs=29208909;Disease=Increased-risk-of-T2DM-in-haplogroup-H;DiseaseStatus=Reported
MT	2755	.	A	G	.	.	AC=283;AF=0.4335;homoplasmy=+;heteroplasmy=-;PubmedIDs=20211276+27217714+32887465+36563715;Disease=Possibly-LVNC-associated-/-PCOS-patient;DiseaseStatus=Reported;HGFL=R8:106/100.00
MT	2806	.	T	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	2835	.	C	T	.	.	AC=74;AF=0.1133;homoplasmy=-;heteroplasmy=+;PubmedIDs=9436797+10457616;Disease=Rett-Syndrome;DiseaseStatus=Reported;HGFL=M8:68/61.26
MT	3010	.	G	A	.	.	AC=9703;AF=14.8623;homoplasmy=+;heteroplasmy=-;PubmedIDs=16947981+16773565+19368653+23096691+25332060+33420243+19220304+27217714+32991883;Disease=Cyclic-Vomiting-Syndrome-with-Migraine-/-high-altitude-adaptation;DiseaseStatus=Reported;HGFL=D1:520/99.81|D2:99/100.00|D3:45/100.00|D4:1739/99.54|H1:4327/99.06|H100:13/81.25|H23:64/59.26|H71:9/81.82|J1:2292/99.57|M34:11/100.00
MT	3054	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	3090	.	G	A	.	.	AC=2;AF=0.0031;homoplasmy=-;heteroplasmy=+;PubmedIDs=17761147;Disease=Myopathy;DiseaseStatus=Reported
MT	3093	.	C	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=11455195+17660142;Disease=MELAS;DiseaseStatus=Reported
MT	3096	.	T	C	.	.	AC=18;AF=0.0276;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	3098	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	3111	.	A	T	.	.	AC=6;AF=0.0092;homoplasmy=+;heteroplasmy=-;Disease=Migraine;DiseaseStatus=Reported
MT	3196	.	G	A	.	.	AC=17;AF=0.0260;homoplasmy=+;heteroplasmy=+;PubmedIDs=8104867+19703591;Disease=ADPD;DiseaseStatus=Reported
MT	3236	.	A	G	.	.	AC=4;AF=0.0061;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079+18676632+29161289+32169613;Disease=Sporadic-bilateral-optic-neuropathy-/-hearing-loss;DiseaseStatus=Reported
MT	3242	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=+;PubmedIDs=22781753+24667782+25313049+31965079+15870203+19460299+24339796+21364701+20550934+37038312+33380464+14576046+10214753;Disease=MM-/-HCM+renal-tubular-dysfunction;DiseaseStatus=Cfrm-[LP]
MT	3243	.	A	G,T	.	.	AC=10,0;AF=0.0153,0.0000;homoplasmy=-,-;heteroplasmy=+,+;PubmedIDs=8363469+8356881+1584755+1922812+1586140+8122891+7965431+1684568+8363452+8477849+1549215+2102678+1674297+1606473+1755869+8201329+1670860+1370535+1405464+1433821+8042948+1673015+8122892+1732728+1434521+2268345+1715668+7680123+8326463+1463007+8151636+1434520+1315123+8442706+8129854+1442494+1713858+1436526+7912129+7689068+2903249+8482977+1539604+1378759+8138807+8487499+8518790+1899574+7684581+8154867+7910800+1284550+8373389+8063037+7743754+7732778+7599217+7600089+7603515+7473662+7639309+8392410+7599199+7625445+7603513+8773598+8723687+8723071+9455929+9761239+9748738+9266470+9196933+9365365+9537417+9341162+9225833+9353631+9262546+9386859+9541428+9219161+9024220+9105898+9212310+9633820+9146825+9541116+9149827+9625453+9437322+9384601+9073028+9628277+9455930+9353617+9222976+9780603+9798744+9772417+8728705+9828917+9778452+9741403+9822126+9683591+9619647+9830283+9884447+9831303+9889270+9744809+9323566+10407850+10399093+8559168+8829651+10862082+10675533+11241464+10939569+10611124+11335700+11085913+11889254+11145497+10220138+10514449+12612863+11074292+10858457+11708999+11175302+9708761+15880407+9175737+11742413+17236134+11874423+17886296+18674747+16483543+16815877+16120315+19297390+20471050+20973690+21263444+22115768+22411789+22080835+23390135+19561330+23297368+23272214+22921075+19253345+19470619+18753147+24003133+22306605+21944974+24667782+16490799+25192935+25192510+24864317+25652200+27919073+21724600+25313049+26404827+28932107+29253894+29700325+28916769+29318513+31253706+30369864+31965079+33257573+34146515+34298071+33763872+34969639+34482029+37587338+39501914+15258237+12574954+12207817+12609508+14648149+15032978+12391367+12590018+12089377+12874464+14648337+15220216+15238271+15180810+10636741+9598702+14571459+14639582+12627331+12150714+12838523+14722523+15111665+14748908+15056184+15126302+10699169+15752543+15660201+15870203+15893315+8751860+8777986+8712800+16050991+16120283+16476929+16476925+15477393+12729737+10699170+12101407+10854117+16290150+15286228+10699115+17540956+17653689+16950816+15372523+7565871+18252214+17656376+18290960+7735877+10716261+10665488+18391161+8676159+8255441+10025431+17664998+18332310+18165269+18180872+18402672+15164188+17172609+17172605+18441172+15466086+15328490+18241671+18306232+10611123+10100521+12080997+11488279+10633132+10890789+8544626+11331900+17541738+8809026+18569490+18294221+18455161+18319067+18279408+10525672+8517674+16337222+17300999+7714102+11733107+11507652+17823937+18647627+18990125+18976726+18826862+18950542+16120317+17637808+11215518+15292920+19370763+16326995+19460299+19204268+17210904+16717204+19502062+19589463+15737668+19169492+19486129+17664050+20194621+19376555+10424809+15585516+10452273+11260383+10462141+9845835+11044204+10645055+20064630+19941338+20123042+20610441+21067488+17403843+11393411+17689757+19234880+17336924+16384802+14673589+11700163+20799154+19470628+20111055+20972245+21473984+21427669+21496500+21120938+21935892+19718780+22270878+22577219+22249460+15073091+23376095+19273755+23838278+17587249+20164463+24642831+21443929+24375076+17223431+11472454+23288206+26722549+26112752+22781547+21364701+25451262+21850008+26897329+27450679+27923514+27986282+28054208+29161289+29079678+20552288+20812177+28140742+10366077+23806424+16876129+28847973+27322764+27402860+29556788+29536171+29376197+30095618+22033022+29983856+29735722+29560378+30133155+29343702+29480536+29139113+17030784+29928977+28320335+29390138+30146801+31083203+30461153+30801962+29266179+30089816+30058726+31641105+31867706+31143779+31347509+31630688+19199242+31682520+29756269+28668821+28951556+29980632+17323145+19864902+30406307+30962477+32786181+32881886+32167396+32970680+32313153+28754700+26469001+32948797+11379873+32169613+22538251+16446307+32722320+32220313+32085658+32696575+31722256+31726383+18176143+32439810+33811417+32504279+34118021+32554818+34467602+34829316+33717984+34737295+24931247+22567359+34599203+36053827+15701731+36010669+11271374+33484420+36611807+23230016+33438095+33541179+29868447+35778412+36744444+36130631+28716227+31665838+36928678+23257519+29666206+37038312+37439868+37737178+12944725+37988592+38397113+38465286+33380464+10214753+32818253+23920046+40241304+40633301+32950272+33288335+33840574+40514671+41839886,9168904+31965079+15477393+12729737+18203188+20471262+33924034+20550934+32273537+30210801+23220830+25504047+40241304+40787093;Disease=MELAS-/-Leigh-Syndrome-/-DMDF-/-MIDD-/-SNHL-/-CPEO-/-MM-/-FSGS-/-ASD-/-Cardiac+multi-organ-dysfunction,MM-/-MELAS-/-SNHL-/-CPEO;DiseaseStatus=Cfrm-[P],Cfrm-[LP]
MT	3244	.	G	A	.	.	AC=4;AF=0.0061;homoplasmy=-;heteroplasmy=+;PubmedIDs=24667782+15870203+19460299+29161289+20550934;Disease=MELAS;DiseaseStatus=Reported
MT	3249	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=11448301+15477393+29161289+20550934+33380464;Disease=KSS;DiseaseStatus=Reported-[VUS]
MT	3250	.	T	C	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=1514779+9003864+12160969+31965079+14639582+15870203+15477393+12729737+15466077+21364701+29161289+33259687+28716227+33380464+10214753;Disease=MM-/-CPEO-/-cardiomyopathy;DiseaseStatus=Reported
MT	3251	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=8265770+8786060+31965079+29161289+30837005+38465286+33380464+41766076;Disease=MM-/-MELAS;DiseaseStatus=Cfrm-[LP]
MT	3252	.	A	G,T	.	.	AC=0,0;AF=0.0000,0.0000;homoplasmy=-,-;heteroplasmy=+,+;PubmedIDs=8111377+7603510+25192510+31965079+15477393,31965079+23463613;Disease=MELAS,EXIT;DiseaseStatus=Cfrm-[LP],Reported
MT	3253	.	T	C	.	.	AC=7;AF=0.0107;homoplasmy=+;heteroplasmy=-;PubmedIDs=28679533+29161289+27544295+34599203;Disease=Maternally-inherited-hypertension;DiseaseStatus=Reported
MT	3254	.	C	A,G,T	.	.	AC=35,0,22;AF=0.0536,0.0000,0.0337;homoplasmy=-,-,+;heteroplasmy=+,+,-;PubmedIDs=10704697,9270605+15477393+29161289+34599203,15870203+15477393+20064630+19778529+29161289;Disease=Gestational-Diabetes-(GDM),MM,CPEO-/-diabetes-/-poss.-hypertension-factor;DiseaseStatus=Reported,Reported,Reported
MT	3255	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+34969639+12868503+15477393+20064630+24134831;Disease=MERRF-/-KSS-overlap;DiseaseStatus=Cfrm-[LP]
MT	3256	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=8254046+7804130+7599217+9744809+16483543+31965079+12972383+15477393+18165269+20064630+19941338+16384802+10953207+19718780+23376095+28951770+29670672+23395464+23874496+32167396+23056349;Disease=MELAS|-possible-atherosclerosis-risk;DiseaseStatus=Cfrm-[LP]
MT	3258	.	T	C	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=11335700+23847141+12798797+15870203+15477393;Disease=MELAS-/-Myopathy;DiseaseStatus=Cfrm-[LP]
MT	3260	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=8132749+8210299+1677065+7599217+9744809+8941275+31965079+33763872+15477393+18165269+18647627+20064630+32167396+24656211+20965148+19036942+16141288+19631764;Disease=MMC-/-MELAS;DiseaseStatus=Cfrm-[LP]
MT	3261	.	A	G	.	.	AC=7;AF=0.0107;homoplasmy=+;heteroplasmy=-;PubmedIDs=35657541;Disease=Essential-hypertension;DiseaseStatus=Reported
MT	3264	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9203451+15477393+29161289;Disease=DM;DiseaseStatus=Reported
MT	3271	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=1932147+8280119+8482977+7684581+7599217+7603510+7603512+9455930+9766710+9744809+10675533+16120315+21944974+25192510+31965079+33763872+12609508+12527767+15794182+15870203+15477393+12729737+18165269+19370763+20064630+20972245+24153443+21364701+29161289+32167396+11404119+16006433+25680467+36769001+31665838+23257519+29666206+38465286+10214753;Disease=MELAS-/-DM-/-MERRF-like;DiseaseStatus=Cfrm-[P]
MT	3272	.	TT	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=7854527+30701423;Disease=PEM-/-retinal-dystrophy-in-MELAS;DiseaseStatus=Cfrm-[VUS*]
MT	3273	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=11404120+29161289;Disease=Ocular-myopathy;DiseaseStatus=Reported
MT	3273	.	TAC	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=36404555;Disease=Encephalomyopathy-with-proteinuric-kidney-disease;DiseaseStatus=Reported
MT	3274	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+16384802+11723298+24931247;Disease=Neuropsychiatric-syndrome-+-cataract;DiseaseStatus=Reported-[VUS]
MT	3275	.	C	A,T	.	.	AC=4,3;AF=0.0061,0.0046;homoplasmy=+,+;heteroplasmy=-,-;PubmedIDs=10612844+31965079+15477393+29161289,31965079+29155328+30194987+28027978+33552719+34053002+34120304;Disease=LHON,Metabolic-syndrome-and-polycystic-ovary-syndrome-/-LHON;DiseaseStatus=Reported,Reported
MT	3277	.	G	A	.	.	AC=44;AF=0.0674;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+19778529;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported
MT	3278	.	T	C	.	.	AC=18;AF=0.0276;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+19778529+24448545;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported
MT	3280	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=11335700+12402350+12798797+15870203+15477393+20064630;Disease=Myopathy;DiseaseStatus=Cfrm-[VUS*]
MT	3283	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=17363246;Disease=Late-onset-ocular-myopathy;DiseaseStatus=Reported
MT	3287	.	C	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=15670724+19718780;Disease=Encephalomyopathy;DiseaseStatus=Reported
MT	3288	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=10402027+31965079+34969639+15477393+23631826+33380464+23920046;Disease=Myopathy;DiseaseStatus=Reported-[VUS]
MT	3290	.	T	C	.	.	AC=138;AF=0.2114;homoplasmy=+;heteroplasmy=-;PubmedIDs=7600089+31965079+19778529+29161289+32167396+33380464+40514671;Disease=Poss.-hypertension-factor-/-3243G-protective;DiseaseStatus=Reported;HGFL=HV13:11/57.89
MT	3291	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=7520241+7603510+31965079+10899447+15870203+15477393+18165269+18977334+20064630+22471645+20943236+21863273+24338029+29161289+23273904+32167396+22538251+36769001;Disease=MELAS-/-Myopathy-/-Deafness+Cognitive-Impairment;DiseaseStatus=Cfrm-[LP]
MT	3302	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=8366098+7635294+31965079+16050991+15477393+7735877+17130166+19370763+20064630+29161289+26741492+15351426+28716227+34991096+35998911;Disease=MM;DiseaseStatus=Cfrm-[LP]
MT	3303	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=+;PubmedIDs=7906985+9841711+10431114+23847141+31965079+12609508+15477393+12729737+16337222+20064630+20226758+21364701+29161289+32167396+11271374+23258140+11768589+15351426+30404982+33013660+32348839+10214753;Disease=MMC;DiseaseStatus=Cfrm-[LP]
MT	3308	.	T	C,G	.	.	AC=475,6;AF=0.7276,0.0092;aachange=M1T,M1Term;homoplasmy=-,+;heteroplasmy=+,+;PubmedIDs=9299504+10371545+10521313+12160969+10519336+10070626+14960712+15972314+10924280+18194667+21457906+22777272+21625124+21968326+22777278+29987491,12160969+37777527;Disease=MELAS-/-DEAF-enhancer-/-hypertension-/-LVNC-/-putative-LHON,Sudden-Infant-Death;DiseaseStatus=Reported---possibly-synergistic|-hg-L1b-and-A2i-marker,Reported
MT	3310	.	C	T	.	.	AC=13;AF=0.0199;aachange=P2S;homoplasmy=+;heteroplasmy=+;PubmedIDs=33420243+16828917+15977098+12610069+29987491+28754700+32652755;Disease=Diabetes-/-HCM;DiseaseStatus=Reported
MT	3316	.	G	A	.	.	AC=629;AF=0.9635;aachange=A4T;homoplasmy=+;heteroplasmy=-;PubmedIDs=9384601+10395242+10520236+12436196+10636741+11238687+15972314+16409568+8858117+10704697+11961525+15338331+16477364+16331560+16414144+22949535+29987491+19199242+29387390+29464373+40181542;Disease=Diabetes-/-LHON-/-PEO-/-vascular-dementia;DiseaseStatus=Reported|-hg-D1-D2-M33-R30-marker;HGFL=D2:99/100.00|R30:57/50.00
MT	3335	.	T	C	.	.	AC=67;AF=0.1026;aachange=I10T;homoplasmy=+;heteroplasmy=-;PubmedIDs=27177320+40969215;Disease=LHON;DiseaseStatus=Reported
MT	3336	.	T	C	.	.	AC=240;AF=0.3676;aachange=I10I;homoplasmy=-;heteroplasmy=+;PubmedIDs=28951770+29670672+23874496;Disease=Carotid-atherosclerosis-risk;DiseaseStatus=Reported
MT	3337	.	G	A	.	.	AC=111;AF=0.1700;aachange=V11M;homoplasmy=+;heteroplasmy=-;PubmedIDs=18502698+29987491;Disease=Cardiomyopathy;DiseaseStatus=Reported---possibly-synergistic
MT	3340	.	C	T	.	.	AC=3;AF=0.0046;aachange=P12S;homoplasmy=+;heteroplasmy=-;PubmedIDs=15465027+29987491+32652755;Disease=Encephaloneuromyopathy;DiseaseStatus=Reported
MT	3365	.	T	C	.	.	AC=0;AF=0.0000;aachange=L20P;homoplasmy=-;heteroplasmy=+;PubmedIDs=25626417;Disease=EXIT;DiseaseStatus=Reported
MT	3376	.	G	A	.	.	AC=0;AF=0.0000;aachange=E24K;homoplasmy=+;heteroplasmy=+;PubmedIDs=15657614+22079202+20301353;Disease=LHON-MELAS-overlap;DiseaseStatus=Cfrm-[VUS*]
MT	3380	.	G	A	.	.	AC=2;AF=0.0031;aachange=R25Q;homoplasmy=-;heteroplasmy=+;PubmedIDs=18590963+36431069;Disease=MELAS;DiseaseStatus=Reported-[VUS]
MT	3388	.	C	A	.	.	AC=30;AF=0.0460;aachange=L28M;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=22241583;Disease=Materally-Inherited-Nonsyndromic-Deafness;DiseaseStatus=Reported
MT	3391	.	G	A	.	.	AC=56;AF=0.0858;aachange=G29S;homoplasmy=+;heteroplasmy=-;PubmedIDs=27177320;Disease=LHON;DiseaseStatus=Reported
MT	3394	.	T	C	.	.	AC=856;AF=1.3112;aachange=Y30H;homoplasmy=+;heteroplasmy=-;PubmedIDs=8680405+1634041+1417830+1442494+7599217+7635294+7603534+8728705+10520236+18679013+19324017+20728388+22517755+19043581+23563965+22233893+24002810+27498855+29444077+29997041+33420243+33763872+15972314+16168441+10704697+18428021+17406640+17320116+15338331+21457906+21694444+16331560+16414144+27177320+29987491+30597069+19199242+29387390+27465874+23350576+32887465+11853713+33840063+29996615+8645285+23091534+35801081+40969215;Disease=LHON-/-Diabetes-/-CPTdeficiency-/-high-altitude-adaptation;DiseaseStatus=Reported-[VUS]--population-dependent|-hg-M9-marker;HGFL=M9:358/100.00
MT	3395	.	A	G	.	.	AC=29;AF=0.0444;aachange=Y30C;homoplasmy=+;heteroplasmy=+;PubmedIDs=21144833+23847141+16060290+20643099+28139165+23301511+32011699+32652755+36431069+36827238+40969215;Disease=LHON-/-HCM-with-hearing-loss;DiseaseStatus=Reported
MT	3396	.	T	C	.	.	AC=543;AF=0.8317;aachange=Y30Y;homoplasmy=+;heteroplasmy=-;PubmedIDs=8728705+17336924;Disease=NSHL-/-MIDD;DiseaseStatus=Reported-/-Unclear;HGFL=M73:55/100.00
MT	3397	.	A	G	.	.	AC=177;AF=0.2711;aachange=M31V;homoplasmy=+;heteroplasmy=-;PubmedIDs=8104867+7599217+8741876+16523671+19043581+21263444+27498855+15972314+20211276+21457906+29987491;Disease=ADPD-/-possibly-LVNC-cardiomyopathy-associated-/-resistance-to-high-altitude-pulmonary-edema;DiseaseStatus=Reported
MT	3398	.	T	C	.	.	AC=315;AF=0.4825;aachange=M31T;homoplasmy=+;heteroplasmy=-;PubmedIDs=7599217+8723687+10704697+20211276+10894993;Disease=DMDF+HCM-/-GDM-/-possibly-LVNC-cardiomyopathy-associated;DiseaseStatus=Reported
MT	3399	.	A	T	.	.	AC=55;AF=0.0842;aachange=M31I;homoplasmy=+;heteroplasmy=-;PubmedIDs=10704697;Disease=Gestational-Diabetes-(GDM);DiseaseStatus=Reported;HGFL=M73:55/100.00
MT	3407	.	G	A	.	.	AC=1;AF=0.0015;aachange=R34H;homoplasmy=+;heteroplasmy=-;PubmedIDs=16266762+17482693+22258525+36431069;Disease=HCM-/-Muscle-involvement;DiseaseStatus=Conflicting-reports
MT	3418	.	A	G	.	.	AC=1;AF=0.0015;aachange=N38D;homoplasmy=+;heteroplasmy=-;PubmedIDs=18368068+36431069;Disease=AMegL;DiseaseStatus=Reported
MT	3421	.	G	A	.	.	AC=87;AF=0.1333;aachange=V39I;homoplasmy=+;heteroplasmy=-;PubmedIDs=16949108+29987491;Disease=MIDD;DiseaseStatus=Reported
MT	3437	.	G	A	.	.	AC=0;AF=0.0000;aachange=G44E;homoplasmy=-;heteroplasmy=+;PubmedIDs=28716227;Disease=Mitochondrial-myopathy+-EXIT;DiseaseStatus=Reported
MT	3460	.	G	A	.	.	AC=31;AF=0.0475;aachange=A52T;homoplasmy=+;heteroplasmy=+;PubmedIDs=8680405+1732158+1928099+1734726+7901141+1674640+1550131+8213820+1444915+8270249+8024249+1959619+8401538+8071952+8496715+8195807+7853025+7770132+7611298+7635294+7603534+7924787+7821467+7710535+7629530+7977345+7735876+7760326+7599218+9012411+8659512+8571959+10976107+9302261+9412783+9561832+9150158+9852675+10426140+10520236+8755941+10426138+10939569+11741983+12205655+11074292+15638829+12446713+16083845+15033723+16523671+16532388+16380918+17886296+18216301+18674747+17652639+11339587+20471050+21253496+11001192+19710181+19525327+15883259+21788663+21810891+20628600+16083844+22079202+18235013+20491810+15342361+22410442+21859767+15629832+15629831+21887510+23297368+24369379+23847141+25192510+25053773+25338955+20301353+27847334+28040497+28233183+28481993+26404827+29253894+29444077+27071925+12807863+30081212+28991104+28994349+30369864+34168607+34969639+37733737+37587338+37878684+14750573+12711217+14671420+15126312+15060117+12409182+14748908+16120372+11523562+8931573+16050984+8941270+15972314+17003408+17479363+8556281+12023431+18214789+18402672+15466086+18320530+11331900+18070226+15282189+16829155+17406640+16972023+15728653+18647627+17434142+10545708+16564802+19370763+19319978+11329546+11124301+17942074+20064630+20123042+8600429+19268652+20599858+20211598+20454697+20943885+21067478+20809775+20232220+17292333+19098324+19255150+18806273+19800080+20053576+15720387+21457906+21694444+21397051+15282179+26605371+27746671+27177320+27787713+29983856+25909222+29587845+29991444+30591017+29426449+28392196+30572950+31040363+30053855+11906302+30304398+29387390+11579587+16738010+31817256+29189152+29980632+31584786+32219779+31932089+32704028+33552719+33706792+28314831+17122117+12518276+32991883+33159657+32991388+32220313+33584522+32887465+33911213+11853713+32504279+34573281+34122299+32105823+28716668+33477675+10608675+11937919+34673906+34915201+34670133+8742999+35383288+18562849+12638016+24508359+33095398+35623556+35858578+36361994+36565700+35778412+36827238+37038312+37737178+37988592+38346855+37628761+40969215+41129129;Disease=LHON;DiseaseStatus=Cfrm-[P]
MT	3461	.	C	T	.	.	AC=0;AF=0.0000;aachange=A52V;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32355048;Disease=LHON;DiseaseStatus=Reported
MT	3472	.	T	C	.	.	AC=5;AF=0.0077;aachange=F56L;homoplasmy=+;heteroplasmy=+;PubmedIDs=24800637+27177320+27449621+28870561+28992945+28992946+28862604+41253385;Disease=LHON;DiseaseStatus=Reported
MT	3481	.	G	A	.	.	AC=0;AF=0.0000;aachange=E59K;homoplasmy=-;heteroplasmy=+;PubmedIDs=17535832+18504678+18977334+31665838+37038312;Disease=MELAS-/-Progressive-Encephalomyopathy;DiseaseStatus=Cfrm-[LP]
MT	3482	.	A	G	.	.	AC=0;AF=0.0000;aachange=E59G;homoplasmy=-;heteroplasmy=+;PubmedIDs=33300189;Disease=MELAS/LS-overlap;DiseaseStatus=Reported
MT	3488	.	T	C	.	.	AC=1;AF=0.0015;aachange=L61P;homoplasmy=+;heteroplasmy=-;PubmedIDs=27177320;Disease=LHON;DiseaseStatus=Reported
MT	3496	.	G	T	.	.	AC=11;AF=0.0168;aachange=A64S;homoplasmy=+;heteroplasmy=-;PubmedIDs=10520236+15972314+29987491;Disease=LHON;DiseaseStatus=Reported-/-Secondary
MT	3497	.	C	T	.	.	AC=218;AF=0.3339;aachange=A64V;homoplasmy=+;heteroplasmy=-;PubmedIDs=10520236+15972314+16477364+29987491+29387390+11853713;Disease=LHON;DiseaseStatus=Reported-/-Secondary
MT	3502	.	T	C	.	.	AC=0;AF=0.0000;aachange=S66P;homoplasmy=-;heteroplasmy=+;PubmedIDs=32652755;Disease=MELAS-/-MM-w-reversible-COX-deficiency;DiseaseStatus=Reported-[VUS]
MT	3548	.	T	C	.	.	AC=37;AF=0.0567;aachange=I81T;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=11853713;Disease=Possible-LHON-helper-(one-14484-patient);DiseaseStatus=Reported
MT	3551	.	C	T	.	.	AC=0;AF=0.0000;aachange=A82V;homoplasmy=+;heteroplasmy=-;PubmedIDs=27177320;Disease=LHON;DiseaseStatus=Reported
MT	3552	.	T	A	.	.	AC=2187;AF=3.3499;aachange=A82A;homoplasmy=+;heteroplasmy=-;PubmedIDs=29200319;Disease=Resistance-to-high-altitude-pulmonary-edema-(HAPE)-/-matrilineal-hypertension;DiseaseStatus=Reported|-hg-C-marker;HGFL=C1:951/99.79|C4:784/98.87|C5:218/100.00|C7:215/99.54
MT	3570	.	CC	C	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32652755;Disease=Mitochondrial-myopathy-with-reversible-cytochrome-C-oxidase-deficiency;DiseaseStatus=Cfrm-[LP]
MT	3571	.	C	T	.	.	AC=142;AF=0.2175;aachange=L89F;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=29387390+22553750+11853713+33365557;Disease=Possible-LHON-helper-mut-/-idiopathic-epilepsy;DiseaseStatus=Reported
MT	3632	.	C	T	.	.	AC=0;AF=0.0000;aachange=S109F;homoplasmy=+;heteroplasmy=-;PubmedIDs=27177320+34177762;Disease=LHON;DiseaseStatus=Reported
MT	3634	.	A	G	.	.	AC=0;AF=0.0000;aachange=S110G;homoplasmy=+;heteroplasmy=-;PubmedIDs=27613247+29467576;Disease=LHON;DiseaseStatus=Reported
MT	3635	.	G	A	.	.	AC=9;AF=0.0138;aachange=S110N;homoplasmy=+;heteroplasmy=-;PubmedIDs=11479733+25194554+20301353+29253894+34156427+15972314+19497304+21074518+19527690+23304069+27177320+29387390+31817256+32652755+33417421+35905669+38346855+39147111;Disease=LHON;DiseaseStatus=Cfrm-[LP]
MT	3644	.	T	C	.	.	AC=235;AF=0.3600;aachange=V113A;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=15533721+19290059+23563965+29987491;Disease=BD-associated;DiseaseStatus=Reported;HGFL=M13:44/57.14|N11:13/59.09
MT	3667	.	T	G	.	.	AC=0;AF=0.0000;aachange=W121G;homoplasmy=+;heteroplasmy=-;PubmedIDs=24456990;Disease=Peripheral-neuropathy-of-T2-diabetes;DiseaseStatus=Reported
MT	3685	.	T	C	.	.	AC=0;AF=0.0000;aachange=Y127H;homoplasmy=-;heteroplasmy=+;PubmedIDs=35217561;Disease=Leigh-Syndrome;DiseaseStatus=Reported-[VUS]
MT	3688	.	G	A	.	.	AC=1;AF=0.0015;aachange=A128T;homoplasmy=+;heteroplasmy=-;PubmedIDs=18977334+24642831+37038312;Disease=Leigh-Syndrome;DiseaseStatus=Cfrm-[LP]
MT	3697	.	G	A	.	.	AC=0;AF=0.0000;aachange=G131S;homoplasmy=+;heteroplasmy=+;PubmedIDs=20301353+23010433+15466014+15972314+18402672+16969869+18977334+17562939+21457906+24830958+21364701+30095618+30623604+30461153+31996177+28429146+26741492+27338358+34802141+37038312+35094435;Disease=MELAS-/-Leigh-Syndrome-/-LDYT-/-BSN;DiseaseStatus=Cfrm-[LP]
MT	3700	.	G	A	.	.	AC=3;AF=0.0046;aachange=A132T;homoplasmy=+;heteroplasmy=-;PubmedIDs=12150954+22879922+20301353+29253894+29987491+30128709;Disease=LHON;DiseaseStatus=Cfrm-[VUS*]
MT	3713	.	T	C	.	.	AC=0;AF=0.0000;aachange=V136A;homoplasmy=+;heteroplasmy=-;PubmedIDs=27177320;Disease=LHON;DiseaseStatus=Reported
MT	3733	.	G	A,C	.	.	AC=2,0;AF=0.0031,0.0000;aachange=E143K,E143Q;homoplasmy=+,-;heteroplasmy=+,+;PubmedIDs=15505787+22879922+20301353+29253894+19098324+21457906+27177320+29387390+17122117,22879922+40639784;Disease=LHON,LHON;DiseaseStatus=Cfrm-[VUS*],Reported
MT	3734	.	A	G	.	.	AC=1;AF=0.0015;aachange=E143G;homoplasmy=+;heteroplasmy=-;PubmedIDs=35892476+38582886;Disease=LHON;DiseaseStatus=Reported-[VUS]
MT	3736	.	G	A	.	.	AC=113;AF=0.1731;aachange=V144I;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=20643099+29987491;Disease=LHON;DiseaseStatus=Reported;HGFL=N11:14/63.64
MT	3745	.	G	A	.	.	AC=125;AF=0.1915;aachange=A147T;homoplasmy=+;heteroplasmy=+;PubmedIDs=24002810+29444077+29987491+27119776;Disease=LHON-/-high-altitude-variant;DiseaseStatus=Reported-/-Population-dependent
MT	3761	.	C	A	.	.	AC=0;AF=0.0000;aachange=S152Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=32158465;Disease=Deafness-w-relapsing/remitting-neurological-symptoms;DiseaseStatus=Reported-[VUS]
MT	3769	.	C	G	.	.	AC=0;AF=0.0000;aachange=L155V;homoplasmy=+;heteroplasmy=-;PubmedIDs=27177320;Disease=LHON;DiseaseStatus=Reported
MT	3781	.	T	C	.	.	AC=0;AF=0.0000;aachange=S159P;homoplasmy=+;heteroplasmy=-;PubmedIDs=27177320;Disease=LHON;DiseaseStatus=Reported
MT	3796	.	A	G	.	.	AC=299;AF=0.4580;aachange=T164A;homoplasmy=-;heteroplasmy=+;PubmedIDs=12756609+15972314+18427623+21457906+29987491;Disease=Adult-Onset-Dystonia;DiseaseStatus=Reported
MT	3833	.	T	A	.	.	AC=0;AF=0.0000;aachange=L176Q;homoplasmy=+;heteroplasmy=-;PubmedIDs=18246027+29987491;Disease=PEG;DiseaseStatus=Reported
MT	3861	.	A	C	.	.	AC=0;AF=0.0000;aachange=W185C;homoplasmy=-;heteroplasmy=+;PubmedIDs=27155156;Disease=SNHL-+-neurodevelopmental-delay;DiseaseStatus=Reported
MT	3866	.	T	C	.	.	AC=213;AF=0.3263;aachange=I187T;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=15896721+20176558+27177320+29987491+29387390+20197120+32723871;Disease=LHON-+-limb-claudication;DiseaseStatus=Reported-/-possibly-synergistic
MT	3890	.	G	A	.	.	AC=1;AF=0.0015;aachange=R195Q;homoplasmy=-;heteroplasmy=+;PubmedIDs=23246842+23847141+29253894+18504678+27798429+30095618+29987491+34390870;Disease=Progressive-Encephalomyopathy-/-Leigh-Syndrome-/-Optic-Atrophy;DiseaseStatus=Cfrm-[LP]
MT	3902	.	ACCTTGC	GCAAGGT	.	.	AC=0;AF=0.0000;aachange=DLA-GKV;homoplasmy=-;heteroplasmy=+;PubmedIDs=10775530+16492986+27290639+34135385+35234296+2125637;Disease=EXIT+myalgia-/-severe-LA+cardiac-/-3-MGA-aciduria-/-nephropathy+deafness+diabetes;DiseaseStatus=Cfrm-[LP]
MT	3919	.	T	C	.	.	AC=0;AF=0.0000;aachange=S205P;homoplasmy=+;heteroplasmy=-;PubmedIDs=27177320;Disease=LHON;DiseaseStatus=Reported
MT	3945	.	C	A	.	.	AC=0;AF=0.0000;aachange=I213M;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=28862604;Disease=Leigh-like-phenotype;DiseaseStatus=Reported
MT	3946	.	G	A	.	.	AC=1;AF=0.0015;aachange=E214K;homoplasmy=+;heteroplasmy=+;PubmedIDs=29253894+15466014+15972314+18402672+21457906+16849371+21364701+31996177+28429146+26741492+31665838+38465286+40241304;Disease=MELAS;DiseaseStatus=Cfrm-[LP]
MT	3949	.	T	C	.	.	AC=1;AF=0.0015;aachange=Y215H;homoplasmy=-;heteroplasmy=+;PubmedIDs=29253894+15466014+15972314+18402672+21457906+16849371+21364701+40400026;Disease=MELAS;DiseaseStatus=Reported-[VUS]
MT	3955	.	G	A	.	.	AC=0;AF=0.0000;aachange=A217T;homoplasmy=-;heteroplasmy=+;PubmedIDs=34656796;Disease=Leigh-Syndrome;DiseaseStatus=Reported
MT	3958	.	G	A	.	.	AC=0;AF=0.0000;aachange=G218S;homoplasmy=+;heteroplasmy=-;PubmedIDs=27177320+33706792;Disease=LHON;DiseaseStatus=Reported
MT	3959	.	G	A	.	.	AC=0;AF=0.0000;aachange=G218D;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=23834081;Disease=MELAS;DiseaseStatus=Reported
MT	3995	.	A	G	.	.	AC=21;AF=0.0322;aachange=N230S;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=23834081+29987491+29756269;Disease=MELAS;DiseaseStatus=Reported
MT	4081	.	T	C	.	.	AC=1;AF=0.0015;aachange=F259L;homoplasmy=+;heteroplasmy=-;PubmedIDs=27177320;Disease=LHON;DiseaseStatus=Reported
MT	4115	.	T	C	.	.	AC=0;AF=0.0000;aachange=F270S;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=11853713+34060999;Disease=Possible-LHON-helper-(one-11778-patient);DiseaseStatus=Reported
MT	4123	.	A	T	.	.	AC=0;AF=0.0000;aachange=I273F;homoplasmy=+;heteroplasmy=-;PubmedIDs=27177320;Disease=LHON;DiseaseStatus=Reported
MT	4132	.	G	A	.	.	AC=9;AF=0.0138;aachange=A276T;homoplasmy=+;heteroplasmy=-;PubmedIDs=17454741+29987491;Disease=NAION-associated;DiseaseStatus=Reported-[VUS]
MT	4135	.	T	C	.	.	AC=27;AF=0.0414;aachange=Y277H;homoplasmy=-;heteroplasmy=+;PubmedIDs=37274791;Disease=LHON;DiseaseStatus=Reported
MT	4136	.	A	G	.	.	AC=78;AF=0.1195;aachange=Y277C;homoplasmy=+;heteroplasmy=-;PubmedIDs=2018041+7599217+7635294+7977345+7760326+9150158+18216301+29253894+8751850+15972314+21457906+19616643+35699829;Disease=LHON;DiseaseStatus=Reported---possibly-synergistic
MT	4142	.	G	A,T	.	.	AC=0,0;AF=0.0000,0.0000;aachange=R279Q,R279L;homoplasmy=-,-;heteroplasmy=+,+;PubmedIDs=23463613+29987491+32652755;Disease=Developmental-delay+-seizure+-hypotonia,Leigh-Syndrome;DiseaseStatus=Reported-[VUS],Reported
MT	4160	.	T	C	.	.	AC=1;AF=0.0015;aachange=L285P;homoplasmy=+;heteroplasmy=-;PubmedIDs=2018041+7770132+7635294+7821467+7760326+27127184+20301353+29253894+34168607+15972314+18647627+21457906+22258525+29249004+28455970+34670133+8742999+19616643+35699829+37737178;Disease=LHON-/-LHON-plus;DiseaseStatus=Reported---possibly-synergistic
MT	4163	.	T	C	.	.	AC=1;AF=0.0015;aachange=M286T;homoplasmy=+;heteroplasmy=-;PubmedIDs=27177320;Disease=LHON;DiseaseStatus=Reported
MT	4171	.	C	A	.	.	AC=2;AF=0.0031;aachange=L289M;homoplasmy=+;heteroplasmy=+;PubmedIDs=12112111+20491810+22879922+24884847+20301353+29253894+15972314+19555656+21457906+29987491+32045392+32652755+35104579+34670133+19616643;Disease=LHON-/-Leigh-like-phenotype;DiseaseStatus=Cfrm-[VUS*]
MT	4175	.	G	A	.	.	AC=0;AF=0.0000;aachange=W290Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=25626417;Disease=EXIT;DiseaseStatus=Reported
MT	4216	.	T	C	.	.	AC=6649;AF=10.1844;aachange=Y304H;homoplasmy=+;heteroplasmy=-;PubmedIDs=8680405+1634041+1900003+1463007+8071952+7599217+7770132+7635294+7977345+7814218+7599218+7763260+8741876+9150158+9832034+9719386+8755941+11935318+12150954+15786469+16759180+11339587+23464625+24002810+27498855+29444077+30369864+8899049+8593537+16050984+15972314+10737123+16132471+15338331+10545708+10894993+10424809+21067478+21457906+29987491+30831606+29387390+20197120+28696810+32887465+11853713+34573281+29996615+36701026+34060999;Disease=LHON-/-Insulin-Resistance-/possible-adaptive-high-altitude-variant-/-miscarriage;DiseaseStatus=Conflicting-reports;HGFL=A15:46/58.23|J1:2299/99.87|J2:831/100.00|P4:77/90.59|R2:80/100.00|T1:856/99.77|T2:2207/99.73
MT	4263	.	A	G	.	.	AC=3;AF=0.0046;homoplasmy=+;heteroplasmy=-;PubmedIDs=21134354+19778529+19895710+21454794+33380464;Disease=Maternally-inherited-essential-hypertension;DiseaseStatus=Reported
MT	4267	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=12207935+15477393+17965958+19718780;Disease=MM-/-CPEO;DiseaseStatus=Reported
MT	4268	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=35071519;Disease=Maternally-inherited-hearing-loss;DiseaseStatus=Reported
MT	4269	.	A	G	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=7518448+1632786+12655007+9466989+15477393+15005711+11000270+20064630+22781547+33380464;Disease=FICP;DiseaseStatus=Reported-[VUS]
MT	4271	.	G	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;Disease=Suspected-mitochondrial-disease;DiseaseStatus=Reported
MT	4274	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9339712+17886296+12655007+16358336+15477393+11017193;Disease=CPEO-/-Motor-Neuron-Disease;DiseaseStatus=Reported
MT	4277	.	T	C	.	.	AC=22;AF=0.0337;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+19778529+21945886;Disease=HCM-/-Poss.-hypertension-factor;DiseaseStatus=Reported
MT	4279	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23601850;Disease=Myoclonic-epilepsy;DiseaseStatus=Reported
MT	4281	.	A	G	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=21324494;Disease=Recurrent-Myoglobinuria;DiseaseStatus=Reported
MT	4282	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=25034047;Disease=CPEO-Plus;DiseaseStatus=Reported
MT	4284	.	G	A	.	.	AC=2;AF=0.0031;homoplasmy=-;heteroplasmy=+;PubmedIDs=11782991+29253894+31965079+12655007+15477393+18977334+22781547+21766266;Disease=Varied-familial-presentation-/-spastic-paraparesis-/-MERRF-like;DiseaseStatus=Reported-[VUS]
MT	4285	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=8607814+10611124+34969639+12655007+15477393+11017193+22781547;Disease=CPEO;DiseaseStatus=Reported
MT	4289	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23696415;Disease=Retinopathy+diabetes+dysphagia+cerebral-atrophy;DiseaseStatus=Reported
MT	4290	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=+;PubmedIDs=21533077+31965079+15121771+15477393+18977334;Disease=Progressive-Encephalopathy-/-PEO+myopathy;DiseaseStatus=Reported
MT	4291	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=15498972+34607911;Disease=Hypomagnesemic-Metabolic-Syndrome-/-Gitelman-like-syndrome;DiseaseStatus=Reported-[VUS]
MT	4295	.	A	G	.	.	AC=113;AF=0.1731;homoplasmy=+;heteroplasmy=+;PubmedIDs=8889580+11406419+16947981+19043581+21263444+29253894+31965079+12655007+15477393+20064630+18177739+19778529+22241583+33398350+34991096+37789629;Disease=MHCM-/-Maternally-inherited-hypertension-/-Maternally-inherited-deafness;DiseaseStatus=Reported-[VUS]
MT	4296	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+21982779+23395828+23288206;Disease=Leigh-Syndrome;DiseaseStatus=Reported-[VUS]
MT	4298	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9473477+17886296+31965079+12655007+16120360+15477393+11017193+10611123+20064630+19718780+20164463;Disease=CPEO-/-MS;DiseaseStatus=Cfrm-[VUS*]
MT	4300	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=+;PubmedIDs=7646516+10065021+23847141+34146515+12711217+12655007+12767666+15477393+20064630+10334428+39639347+39791528;Disease=MICM;DiseaseStatus=Cfrm-[LP]
MT	4301	.	A	T	.	.	AC=1;AF=0.0015;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32504279;Disease=Patient-with-MELAS;DiseaseStatus=Reported
MT	4302	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=20149659;Disease=CPEO;DiseaseStatus=Reported
MT	4305	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;Disease=Suspected-mitochondrial-disease;DiseaseStatus=Reported
MT	4308	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+21292040+20884012;Disease=CPEO;DiseaseStatus=Cfrm-[VUS*]
MT	4309	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9808249+12655007+15477393+37038312;Disease=CPEO;DiseaseStatus=Reported
MT	4314	.	T	C	.	.	AC=49;AF=0.0751;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+19778529;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported
MT	4316	.	A	G	.	.	AC=36;AF=0.0551;homoplasmy=+;heteroplasmy=+;PubmedIDs=21144833+23847141+31965079+23301511;Disease=HCM-with-hearing-loss-/-poss.-hypertension-factor;DiseaseStatus=Reported
MT	4316	.	AA	A	.	.	AC=16;AF=0.0245;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=23847141+31965079+18384291+23463613;Disease=Ptosis+-deafness+-stroke-like-episodes;DiseaseStatus=Reported
MT	4317	.	A	G	.	.	AC=51;AF=0.0781;homoplasmy=+;heteroplasmy=-;PubmedIDs=1433821+1978914+7603519+23774020+23847141+29253894+31965079+12655007+9466989+15477393+19778529+29348176+30272361+32169613+33380464;Disease=FICP-/-poss.-Hypertension-/-DEAF-factor;DiseaseStatus=Reported
MT	4320	.	C	T	.	.	AC=10;AF=0.0153;homoplasmy=-;heteroplasmy=+;PubmedIDs=7488201+31965079+12655007+15477393+20064630+33380464;Disease=Mitochondrial-Encephalocardiomyopathy;DiseaseStatus=Reported
MT	4321	.	CC	C	.	.	AC=2;AF=0.0031;homoplasmy=+;heteroplasmy=-;PubmedIDs=29481798;Disease=mtDNA-deletion-and-depletion-with-dilated-cardiomyopathy;DiseaseStatus=Reported
MT	4322	.	C	CC	.	.	AC=3;AF=0.0046;homoplasmy=-;heteroplasmy=+;PubmedIDs=18043288;Disease=Idiopathic-Dilated-Cardiomopathy;DiseaseStatus=Reported
MT	4327	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+32419253;Disease=Ataxia++-with-RRF-and-COX-deficiency;DiseaseStatus=Reported
MT	4332	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=11335700+11171912+20064630+19718780;Disease=Encephalopathy-/-MELAS;DiseaseStatus=Cfrm-[VUS*]
MT	4336	.	T	C	.	.	AC=560;AF=0.8578;homoplasmy=+;heteroplasmy=+;PubmedIDs=8004796+8104867+7624338+8741876+10680807+8848229+11335700+15247418+9004131+16947981+11424923+15786469+16154228+16773565+15975594+19076426+30369864+31965079+10953187+8723226+15292920+19703591+10424809+17174475+29340697+32337946+37845428;Disease=ADPD-/-Hearing-Loss-&-Migraine-/-autism-spectrum-/-intellectual-disability;DiseaseStatus=Reported-[B];HGFL=H5:502/50.45
MT	4343	.	A	G	.	.	AC=55;AF=0.0842;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+19778529;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported
MT	4344	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=38730005;Disease=Developmental-delay;DiseaseStatus=Reported
MT	4345	.	C	T	.	.	AC=6;AF=0.0092;homoplasmy=+;heteroplasmy=-;PubmedIDs=19778529;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported
MT	4353	.	T	C	.	.	AC=38;AF=0.0582;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+19778529;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported
MT	4363	.	T	C	.	.	AC=55;AF=0.0842;homoplasmy=+;heteroplasmy=-;PubmedIDs=12406974+27498855+31965079+19778529+29155328+30194987+34053002+34120304;Disease=Metabolic-syndrome-and-polycystic-ovary-syndrome-/-possibly-associated-w-DEAF-+-RP-+-dev-delay-/-hypertension-/-LHON;DiseaseStatus=Reported
MT	4369	.	A	AA	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=10996779+19718780+17560547;Disease=Myopathy;DiseaseStatus=Reported-[VUS]
MT	4372	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+23463613;Disease=Suspected-mito-disease;DiseaseStatus=Reported-[VUS]
MT	4373	.	T	C	.	.	AC=11;AF=0.0168;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+20211276+33289513;Disease=Tic-disorder-/-possibly-LVNC-associated;DiseaseStatus=Reported
MT	4375	.	C	T	.	.	AC=10;AF=0.0153;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=29200319;Disease=Matrilineal-hypertension-risk-factor;DiseaseStatus=Reported
MT	4381	.	A	G	.	.	AC=4;AF=0.0061;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+17003408;Disease=LHON;DiseaseStatus=Reported
MT	4386	.	T	C	.	.	AC=196;AF=0.3002;homoplasmy=+;heteroplasmy=-;PubmedIDs=26782414+31965079+16337222+24470521;Disease=Heart-disease-/-myopathy-/-hypertension;DiseaseStatus=Conflicting-reports
MT	4387	.	C	A	.	.	AC=2;AF=0.0031;homoplasmy=+;heteroplasmy=-;PubmedIDs=19778529;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported
MT	4388	.	A	G	.	.	AC=91;AF=0.1394;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+19778529+29340697;Disease=Poss.-hypertension-factor|-intellectual-disability;DiseaseStatus=Reported
MT	4392	.	C	T	.	.	AC=19;AF=0.0291;homoplasmy=+;heteroplasmy=-;PubmedIDs=19778529;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported;HGFL=M69:15/100.00
MT	4395	.	A	G	.	.	AC=28;AF=0.0429;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+19778529;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported
MT	4401	.	A	G	.	.	AC=9;AF=0.0138;homoplasmy=+;heteroplasmy=-;PubmedIDs=19546379+18701880+31504769+33380464;Disease=Hypertension+Ventricular-Hypertrophy;DiseaseStatus=Reported
MT	4403	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=24711008;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported
MT	4409	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9633749+14648149+19941338+23376095+23838278+18835817;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported-[VUS]
MT	4410	.	C	A	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=19778529;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported
MT	4412	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31022467;Disease=Seizures-with-myopathy-&-retinopathy;DiseaseStatus=Reported
MT	4414	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31488384;Disease=Progressive-external-ophthalmoplegia-and-myopathy;DiseaseStatus=Reported
MT	4415	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=19460300;Disease=EXIT-&-APS2;DiseaseStatus=Reported
MT	4435	.	A	G	.	.	AC=61;AF=0.0934;homoplasmy=+;heteroplasmy=-;PubmedIDs=16431939+19022198+31965079+16060290+19398658+17123466+19778529+21694735+29222331+29340697+27214402+32169613+29211511+33552719+34053002+34755158+34120304+34991096;Disease=LHON-/-LHON-modulator-/-hypertension|-autism-spectrum|-intellectual-disability-/-hearing-loss;DiseaseStatus=Reported
MT	4437	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+23463613+27214402;Disease=Hypotonia+-seizure+-muscle-weakness+-lactic-acidosis+-hearing-loss;DiseaseStatus=Reported-[VUS]
MT	4440	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=29174468+29472063+29482911+32970680+29467576;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported
MT	4450	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9384601+11335700+30739820+30952460+25468263;Disease=Myopathy-/-MELAS-/-Leigh-Syndrome-/-EXIT;DiseaseStatus=Cfrm-[LP]
MT	4452	.	T	C	.	.	AC=127;AF=0.1945;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33289513;Disease=Reported-in-tic-disorder-patient;DiseaseStatus=Reported
MT	4454	.	T	C	.	.	AC=247;AF=0.3783;homoplasmy=+;heteroplasmy=-;PubmedIDs=12406974+31965079+19778529+36563715;Disease=Possible-contributor-to-mito-dysfunction-/-hypertension-/-PCOS-patient;DiseaseStatus=Reported
MT	4456	.	C	T	.	.	AC=6;AF=0.0092;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+19778529;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported
MT	4467	.	C	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=28596595;Disease=Maternally-inherited-hypertension;DiseaseStatus=Reported
MT	4491	.	G	A	.	.	AC=1031;AF=1.5792;aachange=V8I;homoplasmy=+;heteroplasmy=-;PubmedIDs=31358833;Disease=High-altitude-pulmonary-edema-susceptibility;DiseaseStatus=Reported;HGFL=E1:402/99.75|E2:93/100.00|M55:14/100.00|M9:356/99.44|R22:36/59.02
MT	4516	.	G	A	.	.	AC=0;AF=0.0000;aachange=G16D;homoplasmy=+;heteroplasmy=-;PubmedIDs=31743754;Disease=Possible-LHON-modulator;DiseaseStatus=Reported
MT	4580	.	G	A	.	.	AC=1104;AF=1.6910;aachange=M37M;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=37793469;Disease=Protective-factor-for-stroke-risk-(hg-V);DiseaseStatus=Reported;HGFL=M3:115/52.04|V1:138/100.00|V10:28/100.00|V12:10/100.00|V13:12/100.00|V15:16/100.00|V16:19/100.00|V18:22/100.00|V2:51/100.00|V22:21/100.00|V25:29/100.00|V3:52/100.00|V5:12/100.00|V7:114/100.00|V8:16/100.00|V9:33/100.00
MT	4610	.	AA	A	.	.	AC=0;AF=0.0000;aachange=M-Term;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32652755+32414374;Disease=Leigh-Syndrome;DiseaseStatus=Reported-[VUS]
MT	4633	.	C	G	.	.	AC=0;AF=0.0000;aachange=A55G;homoplasmy=+;heteroplasmy=-;PubmedIDs=2567271;Disease=LHON-candidate;DiseaseStatus=Reported
MT	4640	.	C	A	.	.	AC=251;AF=0.3845;aachange=I57M;homoplasmy=+;heteroplasmy=-;PubmedIDs=11479733+16523671+20301353+15972314+18676632+21457906+29987491+21145289;Disease=LHON-/-Epilepsy;DiseaseStatus=Reported;HGFL=U3:251/57.31
MT	4648	.	T	C	.	.	AC=1;AF=0.0015;aachange=F60S;homoplasmy=+;heteroplasmy=-;PubmedIDs=18246027+29987491;Disease=PEG;DiseaseStatus=Reported
MT	4659	.	G	A	.	.	AC=111;AF=0.1700;aachange=A64T;homoplasmy=+;heteroplasmy=-;PubmedIDs=1463007+19076426+31817256;Disease=possible-PD-risk-factor-/-LHON;DiseaseStatus=Reported
MT	4681	.	T	C	.	.	AC=1;AF=0.0015;aachange=L71P;homoplasmy=-;heteroplasmy=+;PubmedIDs=29253894+16996290+21457906+16738010;Disease=Leigh-Syndrome;DiseaseStatus=Reported-[VUS]
MT	4769	.	A	A	.	.	AC=1307;AF=2.0020;aachange=M100M;homoplasmy=+;heteroplasmy=-;PubmedIDs=19290059;Disease=SZ-associated;DiseaseStatus=Reported
MT	4810	.	G	A	.	.	AC=0;AF=0.0000;aachange=W114Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=15781840;Disease=EXIT-with-myalgia-&-ophthalmoplegia;DiseaseStatus=Cfrm-[LP]
MT	4831	.	G	A	.	.	AC=1;AF=0.0015;aachange=G121D;homoplasmy=-;heteroplasmy=+;PubmedIDs=37038312+28070494;Disease=Isolated-myopathy;DiseaseStatus=Reported
MT	4833	.	A	G	.	.	AC=653;AF=1.0002;aachange=T122A;homoplasmy=+;heteroplasmy=-;PubmedIDs=11095989+18468491+29987491+11853713;Disease=Diabetes-helper-mutation-AD+-PD;DiseaseStatus=Reported;HGFL=G1:203/98.07|G2:345/95.83|G3:60/96.77
MT	4852	.	T	A	.	.	AC=0;AF=0.0000;aachange=L128Q;homoplasmy=+;heteroplasmy=-;PubmedIDs=20454697;Disease=LHON;DiseaseStatus=Reported
MT	4883	.	C	T	.	.	AC=2891;AF=4.4282;aachange=P138P;homoplasmy=+;heteroplasmy=-;PubmedIDs=27217714+24448266;Disease=Glaucoma;DiseaseStatus=Conflicting-reports;HGFL=D1:521/100.00|D2:99/100.00|D3:45/100.00|D4:1739/99.54|D5:430/98.62|D6:34/100.00
MT	4917	.	A	G	.	.	AC=3210;AF=4.9168;aachange=N150D;homoplasmy=+;heteroplasmy=-;PubmedIDs=8680405+1550131+1900003+8071952+7599217+7770132+7635294+7977345+7599218+9150158+10936107+16759180+17684475+11339587+23563965+8899049+8593537+16050984+15972314+10737123+16132471+18445251+18461138+10545708+19383124+21457906+29987491+23920046;Disease=LHON-/-Insulin-Resistance-/-AMD-/-NRTI-PN;DiseaseStatus=Reported;HGFL=R1:52/71.23|T1:848/98.83|T2:2205/99.64
MT	4924	.	G	T	.	.	AC=0;AF=0.0000;aachange=S152I;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=11853713;Disease=Possible-LHON-helper-(one-11778-patient);DiseaseStatus=Reported
MT	4935	.	A	G	.	.	AC=0;AF=0.0000;aachange=T156A;homoplasmy=-;heteroplasmy=+;PubmedIDs=23463613+32419253+29876471;Disease=Lipomatosis+EXIT;DiseaseStatus=Reported
MT	4944	.	A	G	.	.	AC=10;AF=0.0153;aachange=I159V;homoplasmy=+;heteroplasmy=-;PubmedIDs=31358833;Disease=High-altitude-pulmonary-edema-susceptibility;DiseaseStatus=Reported
MT	4959	.	G	A	.	.	AC=73;AF=0.1118;aachange=A164T;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=11853713;Disease=Possible-LHON-helper-(one-11778-patient);DiseaseStatus=Reported
MT	4983	.	C	T	.	.	AC=0;AF=0.0000;aachange=Q172Term;homoplasmy=nr;heteroplasmy=nr;Disease=Unspecified-suspected-mitochondrial-disorder;DiseaseStatus=Reported-[VUS]
MT	5001	.	A	AA	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=23463613+23288206+32652755;Disease=Developmental-delay+-seizure+-cardiomyopathy+-lactic-acidosis;DiseaseStatus=Reported-[VUS]
MT	5095	.	T	C	.	.	AC=19;AF=0.0291;aachange=I209T;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=28187756;Disease=Proximal-muscle-weakness-and-atrophy;DiseaseStatus=Reported
MT	5132	.	AAA	A	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=12192017+16815877+23376095+19273755+23838278;Disease=Exercise-intolerance-(EXIT);DiseaseStatus=Reported-[VUS]
MT	5153	.	A	G	.	.	AC=353;AF=0.5407;aachange=L228L;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=28696810;Disease=Recurrent-pregnancy-loss;DiseaseStatus=Reported
MT	5178	.	C	A	.	.	AC=2871;AF=4.3976;aachange=L237M;homoplasmy=+;heteroplasmy=+;PubmedIDs=12391595+10996007+9449878+11735027+12782420+11573146+12375058+15126279+12384792+16271520+15211636+15262184+20555337+19667492+20306229+21319252+21385625+18468491+28951770+29670672+25834827+29987491+31488191;Disease=Longevity-/-Extraversion-/-diabetes-/-AMS-protection-/-blood-iron-metabolism-/-correlation-with-myocardial-infarction-/-atherosclerosis;DiseaseStatus=Reported;HGFL=D1:521/100.00|D2:99/100.00|D3:45/100.00|D4:1739/99.54|D5:430/98.62|D6:34/100.00
MT	5244	.	G	A	.	.	AC=0;AF=0.0000;aachange=G259S;homoplasmy=-;heteroplasmy=+;PubmedIDs=8680405+1634041+7770132+7760326+7599218+20301353+15972314+21457906;Disease=LHON;DiseaseStatus=Reported-[VUS]
MT	5366	.	CACCTCAATCACACTACTCC	C	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32652755;Disease=Unspecified-suspected-mitochondrial-disorder;DiseaseStatus=Reported-[VUS]
MT	5452	.	C	T	.	.	AC=20;AF=0.0306;aachange=T328M;homoplasmy=+;heteroplasmy=-;PubmedIDs=15286228+29987491;Disease=Progressive-Encephalomyopathy;DiseaseStatus=Reported
MT	5460	.	G	A,T	.	.	AC=4697,0;AF=7.1945,0.0000;aachange=A331T,A331S;homoplasmy=+,+;heteroplasmy=+,+;PubmedIDs=1370613+1463007+1352971+8093052+8937782+8723226+15972314+19703591+29987491+36563715,1370613+1352971+8093052+15972314+19703591;Disease=AD-/-PD-/-LHON-/-PCOS-patients,AD;DiseaseStatus=Conflicting-reports,Reported;HGFL=H41:33/91.67|M52:53/98.15|P4:78/91.76|Q1:679/99.85|Q2:71/98.61|W1:244/99.19|W3:156/99.36|W4:50/100.00|W5:70/100.00|W6:114/98.28,.
MT	5512	.	A	G	.	.	AC=6;AF=0.0092;homoplasmy=+;heteroplasmy=-;PubmedIDs=27687549;Disease=Maternally-inherited-hypertension;DiseaseStatus=Reported
MT	5513	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=29625105;Disease=Mitochondrial-encephalomyopathy-with-RP;DiseaseStatus=Reported
MT	5514	.	A	G	.	.	AC=49;AF=0.0751;homoplasmy=+;heteroplasmy=-;PubmedIDs=22638997+31965079+26741492;Disease=Neonatal-onset-mito-disease;DiseaseStatus=Reported;HGFL=A17:48/100.00
MT	5521	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9673981+10611124+23847141+29253894+31965079+23841600+31181796+37038312;Disease=Mitochondrial-myopathy;DiseaseStatus=Cfrm-[LP]
MT	5522	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23232693+30937556;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported
MT	5523	.	T	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=19349200+23301511;Disease=Leigh-Syndrome;DiseaseStatus=Reported-[VUS]
MT	5532	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=29253894+15054399+19718780+39380483;Disease=Gastrointestinal-Syndrome;DiseaseStatus=Reported-[VUS]
MT	5537	.	A	AT	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9266739+10862082+12776230+31965079+14681757+20064630+23920046;Disease=Leigh-Syndrome;DiseaseStatus=Cfrm-[LP]
MT	5538	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+20708751+32504279+41287367;Disease=Encephalomyopathy;DiseaseStatus=Reported-[VUS]
MT	5540	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=10762520+23847141+31965079+15126302;Disease=Encephalomyopathy-/-DEAF;DiseaseStatus=Reported-[VUS]
MT	5541	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23696415+33208382+26297375+29467576+37737178;Disease=MELAS+stroke-like-episodes-and-cortical-blindness+MRI-shows-occipital-lobe-infarct;DiseaseStatus=Reported
MT	5543	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+34969639+11506394+15670724+21712854+19718780+19273755+26469001+32948797;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported-[VUS]
MT	5545	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=18337306+39380483;Disease=HCM-severe-multisystem-disorder;DiseaseStatus=Reported-[VUS]
MT	5549	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=7695240+34276539;Disease=DEMCHO-/-mitochondrial-encephalomyopathy;DiseaseStatus=Reported-[VUS]
MT	5556	.	G	A,C	.	.	AC=0,0;AF=0.0000,0.0000;homoplasmy=-,-;heteroplasmy=+,+;PubmedIDs=19433277+19809478+27450679,19744136;Disease=Combined-OXPHOS-defects,Mito-encephalomyopathy;DiseaseStatus=Cfrm-[LP],Reported
MT	5558	.	A	G	.	.	AC=130;AF=0.1991;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33289513+22567359;Disease=Reported-in-tic-disorder-patient-/-NSSNHL;DiseaseStatus=Reported-[VUS];HGFL=M6:42/100.00
MT	5559	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+19349200+23301511;Disease=Leigh-Syndrome;DiseaseStatus=Reported
MT	5567	.	T	C	.	.	AC=59;AF=0.0904;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+18977334+21364701;Disease=Myopathy;DiseaseStatus=Reported
MT	5568	.	A	G	.	.	AC=17;AF=0.0260;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+15292920;Disease=DEAF;DiseaseStatus=Reported
MT	5587	.	T	C	.	.	AC=39;AF=0.0597;homoplasmy=+;heteroplasmy=+;PubmedIDs=20153673+28990081+9344764+30783460+33289513+25968158+22538251+33552719+34023389+34053002+34120304+34993838;Disease=LHON-/-possible-DEAF-modifier-/-MIDD-/-dilated-cardiomyopathy-/-hypertension-/-tic-disorder;DiseaseStatus=Reported
MT	5591	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+16476954+19718780+29139113+40241304;Disease=Myopathy;DiseaseStatus=Reported-[VUS+]
MT	5592	.	A	G	.	.	AC=35;AF=0.0536;homoplasmy=+;heteroplasmy=-;PubmedIDs=16947981+24470521;Disease=Coronary-Heart-Disease;DiseaseStatus=Reported
MT	5595	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33289513;Disease=Reported-in-tic-disorder-patient;DiseaseStatus=Reported
MT	5601	.	C	T	.	.	AC=649;AF=0.9941;homoplasmy=+;heteroplasmy=-;PubmedIDs=24470521+33289513+25968158+32169613+29211511+33552719+31939618;Disease=Possible-helper-mutation-in-maternally-inherited-hypertension-and-in-LHON;DiseaseStatus=Reported;HGFL=G2:354/98.33
MT	5610	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=25873012;Disease=Myopathy;DiseaseStatus=Reported-[VUS]
MT	5613	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=27014581;Disease=CPEO;DiseaseStatus=Reported
MT	5618	.	T	C	.	.	AC=20;AF=0.0306;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079+17085680+32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported;HGFL=H104:8/72.73
MT	5628	.	T	C	.	.	AC=137;AF=0.2098;homoplasmy=-;heteroplasmy=+;PubmedIDs=11404121+16947981+31965079+17434445+29976239+32970680+33289513;Disease=CPEO-/-DEAF-enhancer-/-gout-/-tic-disorder;DiseaseStatus=Reported
MT	5631	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=29253894+25873012;Disease=Myopathy;DiseaseStatus=Reported-[VUS]
MT	5636	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=20813205;Disease=PEO;DiseaseStatus=Reported
MT	5641	.	T	C	.	.	AC=9;AF=0.0138;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	5650	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=17825557+25652200+29253894+27626666+30250142+34050192+11715067+19718780+32970680+31181796;Disease=Myopathy;DiseaseStatus=Cfrm-[LP]
MT	5652	.	C	G	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=9344764;Disease=Dilated-Cardiomyopathy;DiseaseStatus=Reported
MT	5655	.	T	C	.	.	AC=442;AF=0.6770;homoplasmy=+;heteroplasmy=-;PubmedIDs=10371545+31965079+14960712+27544295+27161322+25968158+32169613+22538251+34991096+33380464;Disease=DEAF-enhancer-/-Hypertension-risk;DiseaseStatus=Reported;HGFL=M73:55/100.00
MT	5658	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23375258;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported
MT	5667	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23847141+30962064;Disease=Ptosis-/-CPEO;DiseaseStatus=Reported-[VUS]
MT	5669	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=32869280;Disease=Sporadic-CPEO;DiseaseStatus=Reported
MT	5670	.	A	G	.	.	AC=1;AF=0.0015;homoplasmy=+;heteroplasmy=-;PubmedIDs=39173541;Disease=Progressive-mitochondrial-myopathy;DiseaseStatus=Reported
MT	5672	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+32419253;Disease=EXIT+myalgia+CPEO-with-RRF;DiseaseStatus=Reported
MT	5690	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23696415+23847141+31181796;Disease=CPEO+ptosis+proximal-myopathy;DiseaseStatus=Cfrm-[LP]
MT	5692	.	T	C	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=8129854+7980504+9384601+11335700;Disease=CPEO-/-MM;DiseaseStatus=Reported-[VUS]
MT	5693	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+15752774;Disease=Encephalomyopathy;DiseaseStatus=Reported
MT	5698	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=11335700+18977334+15564038+20064630+39175050;Disease=CPEO-/-MM;DiseaseStatus=Reported
MT	5701	.	AA	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=32869280+39175050;Disease=Sporadic-CPEO;DiseaseStatus=Reported
MT	5702	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;Disease=External-ophthalmoplegia+ptosis;DiseaseStatus=Reported-[VUS]
MT	5703	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=8254046+9372914+10332045+26328603+14518831+20064630+19718780+31268906+30897601+32419253+32970680+38465286;Disease=CPEO-/-MM;DiseaseStatus=Cfrm-[P]
MT	5708	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=+;PubmedIDs=39175050;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported
MT	5709	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=22189266+39175050;Disease=Ophthalmoparesis+respiratory-impairment;DiseaseStatus=Reported
MT	5715	.	A	G	.	.	AC=13;AF=0.0199;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	5728	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23847141+31965079+16908752+31026515;Disease=Multiorgan-failure-/-myopathy-/-myasthenia-gravis-like;DiseaseStatus=Cfrm-[LP]
MT	5774	.	T	C	.	.	AC=68;AF=0.1042;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33289513;Disease=Reported-in-tic-disorder-patient;DiseaseStatus=Reported
MT	5780	.	G	A	.	.	AC=24;AF=0.0368;homoplasmy=-;heteroplasmy=+;PubmedIDs=12802679+31965079;Disease=SNHL;DiseaseStatus=Reported
MT	5783	.	G	A	.	.	AC=49;AF=0.0751;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+16955414+29976239+33289513+36039763;Disease=Myopathy-/-deafness-/-gout-/-tic-disorder;DiseaseStatus=Reported
MT	5789	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=35252560;Disease=Late-onset-NARP;DiseaseStatus=Reported
MT	5794	.	T	C	.	.	AC=10;AF=0.0153;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079+15338331+30430429+33289513+32169613;Disease=Hearing-loss/-tic-disorder;DiseaseStatus=Reported
MT	5802	.	T	C	.	.	AC=3;AF=0.0046;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+18386806+19818876+31868206+32010935+32003422+22538251+32400865;Disease=DEAF1555-increased-penetrance-/-obesity-risk;DiseaseStatus=Reported
MT	5809	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079+32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	5814	.	T	C	.	.	AC=243;AF=0.3722;homoplasmy=-;heteroplasmy=+;PubmedIDs=9384601+8829635+11335700+9185178+16947981+16172508+31965079+16132471+18977334+20064630+29976239+17241783;Disease=Encephalopathy-/-gout;DiseaseStatus=Reported-[LB]
MT	5816	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=17886296+25652200+17724295+37771542;Disease=Progressive-Dystonia;DiseaseStatus=Reported-[VUS]
MT	5819	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33289513;Disease=Reported-in-tic-disorder-patient;DiseaseStatus=Reported
MT	5820	.	C	A	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=34433719;Disease=MERRF;DiseaseStatus=Reported
MT	5821	.	G	A	.	.	AC=381;AF=0.5836;homoplasmy=+;heteroplasmy=-;PubmedIDs=23563965+31965079+16364244+16955413+19818876+22538251+40519988;Disease=DEAF-helper-mut./-dilated-cardiomyopathy;DiseaseStatus=Reported;HGFL=C7:211/97.69|M53:27/100.00
MT	5822	.	G	A	.	.	AC=7;AF=0.0107;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079+32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	5835	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=18384291+32504279+30643656+31355027;Disease=Patient-with-proximal-myopathy;DiseaseStatus=Reported
MT	5843	.	A	G	.	.	AC=850;AF=1.3020;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+14598342;Disease=FSGS-/-Mitochondrial-Cytopathy;DiseaseStatus=Reported;HGFL=Q1:648/95.29|Q2:72/100.00|Q3:88/100.00
MT	5874	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=11071502+6095966;Disease=EXIT;DiseaseStatus=Reported-[VUS]
MT	5877	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=11594340;Disease=CPEO;DiseaseStatus=Reported-[VUS]
MT	5887	.	TT	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=11756614;Disease=CPEO;DiseaseStatus=Reported-[VUS]
MT	5889	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+33279411;Disease=Multisystem-mitochondrial-disorder;DiseaseStatus=Reported
MT	5906	.	G	A	.	.	AC=0;AF=0.0000;aachange=M1M;homoplasmy=-;heteroplasmy=+;PubmedIDs=39460813;Disease=MELAS/Leigh-overlap-Syndrome;DiseaseStatus=Reported
MT	5911	.	C	T	.	.	AC=266;AF=0.4074;aachange=A3V;homoplasmy=+;heteroplasmy=-;PubmedIDs=15647368+36563715;Disease=Prostate-Cancer-/-PCOS-patient;DiseaseStatus=Reported
MT	5913	.	G	A	.	.	AC=560;AF=0.8578;aachange=D4N;homoplasmy=+;heteroplasmy=-;PubmedIDs=15647368+25701779+22949535;Disease=Prostate-Cancer-/-hypertension;DiseaseStatus=Reported;HGFL=F3:316/98.44
MT	5920	.	G	A	.	.	AC=0;AF=0.0000;aachange=W6Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=10980727+14520667+11506394+11782982;Disease=Myoglobinuria-/-EXIT;DiseaseStatus=Cfrm-[LP]
MT	5935	.	A	G	.	.	AC=1;AF=0.0015;aachange=N11S;homoplasmy=+;heteroplasmy=-;PubmedIDs=15647368;Disease=Prostate-Cancer;DiseaseStatus=Reported
MT	5973	.	G	A	.	.	AC=16;AF=0.0245;aachange=A24T;homoplasmy=+;heteroplasmy=-;PubmedIDs=15647368;Disease=Prostate-Cancer;DiseaseStatus=Reported
MT	6019	.	CCGAGC	C	.	.	AC=0;AF=0.0000;aachange=AELGQ-AGPATerm;homoplasmy=-;heteroplasmy=+;PubmedIDs=9450776;Disease=Motor-Neuron-Disease;DiseaseStatus=Reported
MT	6020	.	C	A	.	.	AC=0;AF=0.0000;aachange=A39A;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	6081	.	G	A	.	.	AC=1;AF=0.0015;aachange=A60T;homoplasmy=+;heteroplasmy=-;PubmedIDs=15647368;Disease=Prostate-Cancer;DiseaseStatus=Reported
MT	6145	.	G	A	.	.	AC=0;AF=0.0000;aachange=W81Term;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32652755;Disease=Unspecified-suspected-mitochondrial-disorder;DiseaseStatus=Reported-[VUS]
MT	6150	.	G	A	.	.	AC=257;AF=0.3937;aachange=V83I;homoplasmy=+;heteroplasmy=-;PubmedIDs=29610859+15647368+27217714;Disease=Prostate-Cancer-/-POAG-(primary-open-angle-glaucoma)-risk-factor;DiseaseStatus=Reported
MT	6253	.	T	C	.	.	AC=623;AF=0.9543;aachange=M117T;homoplasmy=+;heteroplasmy=-;PubmedIDs=16892079+15647368+27217714+36563715;Disease=Prostate-Cancer-/-enriched-in-POAG-cohort-/-PCOS-patient;DiseaseStatus=Reported;HGFL=H15:114/99.13|M13:77/100.00|M46:16/100.00|M61:26/100.00|P3:21/55.26
MT	6261	.	G	A	.	.	AC=518;AF=0.7934;aachange=A120T;homoplasmy=+;heteroplasmy=-;PubmedIDs=16892079+15647368+17003408+31817256;Disease=Prostate-Cancer-/-LHON;DiseaseStatus=Reported
MT	6267	.	G	A	.	.	AC=106;AF=0.1624;aachange=A122T;homoplasmy=+;heteroplasmy=-;PubmedIDs=15647368;Disease=Prostate-Cancer;DiseaseStatus=Reported
MT	6285	.	G	A	.	.	AC=136;AF=0.2083;aachange=V128I;homoplasmy=+;heteroplasmy=-;PubmedIDs=15647368;Disease=Prostate-Cancer;DiseaseStatus=Reported
MT	6307	.	A	G	.	.	AC=3;AF=0.0046;aachange=N135S;homoplasmy=.;heteroplasmy=+;PubmedIDs=23712756;Disease=Asthenozoospermic-infertility;DiseaseStatus=Reported
MT	6328	.	C	T	.	.	AC=0;AF=0.0000;aachange=S142F;homoplasmy=+;heteroplasmy=-;PubmedIDs=16284789+21457906;Disease=EXIT-(Exercise-Intolerance);DiseaseStatus=Reported-[VUS]
MT	6340	.	C	T	.	.	AC=107;AF=0.1639;aachange=T146I;homoplasmy=+;heteroplasmy=-;PubmedIDs=16892079+15647368;Disease=Prostate-Cancer;DiseaseStatus=Reported
MT	6367	.	T	C	.	.	AC=24;AF=0.0368;aachange=V155A;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	6459	.	T	C	.	.	AC=0;AF=0.0000;aachange=W186R;homoplasmy=+;heteroplasmy=-;PubmedIDs=30207067+30334343;Disease=Sepsis-susceptibility;DiseaseStatus=Reported
MT	6474	.	A	G	.	.	AC=0;AF=0.0000;aachange=T191A;homoplasmy=+;heteroplasmy=-;PubmedIDs=30831263;Disease=Maternally-inherited-childhood-epilepsy-and-ataxia;DiseaseStatus=Reported
MT	6480	.	G	A	.	.	AC=164;AF=0.2512;aachange=V193I;homoplasmy=+;heteroplasmy=-;PubmedIDs=19022198+15647368+21457906+27217714;Disease=Prostate-Cancer-/-enriched-in-POAG-cohort;DiseaseStatus=Reported
MT	6489	.	C	A	.	.	AC=90;AF=0.1379;aachange=L196I;homoplasmy=-;heteroplasmy=+;PubmedIDs=12140182+29253894+21457906;Disease=CO1-deficiency-with-epilepsia-partialis-continua;DiseaseStatus=Reported
MT	6526	.	T	C	.	.	AC=0;AF=0.0000;aachange=M208T;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32652755;Disease=Developmental-delay+-hypotonia+-myopathy+-failure-to-thrive;DiseaseStatus=Reported-[VUS]
MT	6544	.	A	C	.	.	AC=0;AF=0.0000;aachange=N214T;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	6547	.	T	C	.	.	AC=4;AF=0.0061;aachange=L215P;homoplasmy=-;heteroplasmy=+;PubmedIDs=2025303+2124116+38465286;Disease=Leigh-Syndrome;DiseaseStatus=Reported
MT	6579	.	G	A	.	.	AC=0;AF=0.0000;aachange=G226Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=30743023;Disease=Leigh-Syndrome;DiseaseStatus=Reported
MT	6597	.	C	A	.	.	AC=0;AF=0.0000;aachange=Q232K;homoplasmy=-;heteroplasmy=+;PubmedIDs=22832341;Disease=MELAS-like-syndrome;DiseaseStatus=Reported
MT	6649	.	C	T	.	.	AC=0;AF=0.0000;aachange=P249L;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	6663	.	A	G	.	.	AC=215;AF=0.3293;aachange=I254V;homoplasmy=+;heteroplasmy=-;PubmedIDs=16892079+15647368+27217714;Disease=Prostate-Cancer;DiseaseStatus=Reported-(~3%-AF-Lineage-L)
MT	6697	.	AA	A	.	.	AC=0;AF=0.0000;aachange=K-K_frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=18977334;Disease=Myopathy;DiseaseStatus=Reported
MT	6708	.	G	A	.	.	AC=0;AF=0.0000;aachange=G269Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=15751226;Disease=MM-&-Rhabdomyolysis;DiseaseStatus=Reported
MT	6721	.	T	C	.	.	AC=0;AF=0.0000;aachange=M273T;homoplasmy=-;heteroplasmy=+;PubmedIDs=9389715+21457906;Disease=Acquired-Idiopathic-Sideroblastic-Anemia;DiseaseStatus=Reported-[VUS]
MT	6742	.	T	C	.	.	AC=0;AF=0.0000;aachange=I280T;homoplasmy=-;heteroplasmy=+;PubmedIDs=9389715+21457906;Disease=Acquired-Idiopathic-Sideroblastic-Anemia;DiseaseStatus=Reported-[VUS]
MT	6853	.	G	C	.	.	AC=1;AF=0.0015;aachange=G317A;homoplasmy=-;heteroplasmy=+;PubmedIDs=40241304;Disease=Seizures-+myopathy-+-speech-delay;DiseaseStatus=Reported
MT	6860	.	A	C	.	.	AC=0;AF=0.0000;aachange=K319N;homoplasmy=+;heteroplasmy=-;PubmedIDs=9344764;Disease=Dilated-Cardiomyopathy;DiseaseStatus=Reported
MT	6930	.	G	A	.	.	AC=0;AF=0.0000;aachange=G343Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=10441567+20547844+11595737;Disease=Multisystem-Disorder;DiseaseStatus=Cfrm-[LP]
MT	6955	.	G	A	.	.	AC=1;AF=0.0015;aachange=G351D;homoplasmy=+;heteroplasmy=+;PubmedIDs=18484665;Disease=Mild-EXIT-and-MR;DiseaseStatus=Reported
MT	6962	.	G	A	.	.	AC=1586;AF=2.4293;aachange=L353L;homoplasmy=+;heteroplasmy=-;PubmedIDs=24470521;Disease=Possible-helper-variant-for-15927A;DiseaseStatus=Reported;HGFL=F1:1449/99.72|M50:23/69.70
MT	7023	.	G	A	.	.	AC=1;AF=0.0015;aachange=V374M;homoplasmy=-;heteroplasmy=+;PubmedIDs=19568996;Disease=MELAS-like-syndrome;DiseaseStatus=Reported
MT	7041	.	G	A	.	.	AC=6;AF=0.0092;aachange=V380I;homoplasmy=+;heteroplasmy=-;PubmedIDs=15647368;Disease=Prostate-Cancer;DiseaseStatus=Reported
MT	7065	.	G	A	.	.	AC=0;AF=0.0000;aachange=A388T;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	7080	.	T	C	.	.	AC=69;AF=0.1057;aachange=F393L;homoplasmy=+;heteroplasmy=-;PubmedIDs=15647368+36563715;Disease=Prostate-Cancer-/-PCOS-patient;DiseaseStatus=Reported
MT	7083	.	A	G	.	.	AC=16;AF=0.0245;aachange=I394V;homoplasmy=+;heteroplasmy=-;PubmedIDs=15647368;Disease=Prostate-Cancer;DiseaseStatus=Reported
MT	7158	.	A	G	.	.	AC=61;AF=0.0934;aachange=I419V;homoplasmy=+;heteroplasmy=-;PubmedIDs=15647368;Disease=Prostate-Cancer;DiseaseStatus=Reported;HGFL=N22:24/100.00
MT	7222	.	A	G	.	.	AC=0;AF=0.0000;aachange=Y440C;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32652755+22632780;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported-[VUS]
MT	7299	.	A	G	.	.	AC=88;AF=0.1348;aachange=M466V;homoplasmy=+;heteroplasmy=-;PubmedIDs=32358433;Disease=LHON;DiseaseStatus=Reported
MT	7305	.	A	C	.	.	AC=0;AF=0.0000;aachange=M468L;homoplasmy=+;heteroplasmy=-;PubmedIDs=15647368;Disease=Prostate-Cancer;DiseaseStatus=Reported
MT	7379	.	G	A	.	.	AC=24;AF=0.0368;aachange=L492L;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	7401	.	CC	C	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=24667782;Disease=Isolated-complex-IV-deficiency;DiseaseStatus=Reported
MT	7443	.	A	G	.	.	AC=1;AF=0.0015;aachange=Term514G;homoplasmy=+;heteroplasmy=-;PubmedIDs=10577941+16361254+10739773+20064630;Disease=DEAF;DiseaseStatus=Reported-[VUS]
MT	7444	.	G	A	.	.	AC=237;AF=0.3630;aachange=Term514K;homoplasmy=+;heteroplasmy=-;PubmedIDs=8680405+1732158+1322638+7901141+8240356+8060346+7770132+7603534+7710535+7599218+10520236+10803467+12749053+16895436+29253894+10577941+16152638+16500624+16528519+16361254+17698030+10739773+19026397+17406640+19267350+19371214+17659260+19818876+20064630+8600429+21056478+17489842+21621438+19705751+31152278+25968158+32169613+22538251+32377700;Disease=LHON-/-SNHL-/-DEAF-modulator;DiseaseStatus=Reported-[LB];HGFL=V7:112/98.25
MT	7445	.	A	C,G,T	.	.	AC=17,1,4;AF=0.0260,0.0015,0.0061;aachange=Term514S,Term514Term,;homoplasmy=+,+,+;heteroplasmy=-,+,-;PubmedIDs=29253894+10577941+16361254+18402672+10739773+20064630+19705751+25968158+32169613,8019558+7987332+7994888+9247714+9450881+9742104+10936107+10220138+18674747+29253894+31965079+12655418+10905659+10577941+8572257+15126302+15694374+10760311+16361254+11691920+15477393+18402672+16132471+11175301+10633132+18537605+18639500+11215518+15292920+20064630+17489842+21621438+29605341+29921456+29934116+25968158+32169613+22538251+22567359+15987292+11069477+15620132+16092542+23525847+30035268,18639500;Disease=DEAF,SNHL,SNHL;DiseaseStatus=Reported-[VUS],Cfrm-[P],Reported-[VUS]
MT	7451	.	A	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23696415;Disease=CPEO+ptosis;DiseaseStatus=Reported
MT	7453	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=+;PubmedIDs=22453297+24667782+32313153+33279600;Disease=Fatal-neonatal-lactic-acidosis-/-Neonatal-lactic-acidosis+-exercise-intolerance+-mild-ID;DiseaseStatus=Cfrm-[LP]
MT	7456	.	A	G	.	.	AC=36;AF=0.0551;homoplasmy=+;heteroplasmy=-;PubmedIDs=15292920;Disease=DEAF;DiseaseStatus=Unclear
MT	7458	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=20186009;Disease=PEO;DiseaseStatus=Reported
MT	7462	.	C	T	.	.	AC=6;AF=0.0092;homoplasmy=+;heteroplasmy=-;PubmedIDs=20722495;Disease=DEAF;DiseaseStatus=Reported-[VUS]
MT	7470	.	CC	C	.	.	AC=30;AF=0.0460;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=25968158+31776834+32169613;Disease=Maternally-inherited-hypertension-/-deafness;DiseaseStatus=Reported-[VUS](=7466d)
MT	7471	.	C	CC	.	.	AC=7;AF=0.0107;homoplasmy=+;heteroplasmy=+;PubmedIDs=7581383+9708714+9778262+9832034+9778273+11378827+11919191+10220138+20722495+23847141+31965079+34969639+10094190+10905659+15126302+15382008+10760311+15477393+16368237+15833431+15482956+18398437+10545608+18977334+17637808+11215518+15292920+20064630+17489842+19718780+22538251+32504279+34467602+38465286;Disease=PEM-/-AMDF-/-Motor-neuron-disease-like;DiseaseStatus=Cfrm-[P]
MT	7472	.	A	C,CA	.	.	AC=11,0;AF=0.0168,0.0000;homoplasmy=+,+;heteroplasmy=+,+;PubmedIDs=16368237+15833431+18398437+22538251;Disease=MM-/-DMDF-modulator,PEM-/-AMDF-/-Motor-neuron-disease-like;DiseaseStatus=Reported,See-7471insC
MT	7473	.	AA	A	.	.	AC=4;AF=0.0061;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=19073569;Disease=Hearing-loss-and-epilepsy;DiseaseStatus=Reported-(=7474d)
MT	7474	.	A	G	.	.	AC=5;AF=0.0077;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	7480	.	T	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=15210164+15477393+19718780;Disease=MM;DiseaseStatus=Reported
MT	7484	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=36836911;Disease=MERRF;DiseaseStatus=Reported
MT	7486	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=29398297;Disease=CPEO;DiseaseStatus=Reported
MT	7492	.	C	T	.	.	AC=12;AF=0.0184;homoplasmy=+;heteroplasmy=-;PubmedIDs=26782414+32377700;Disease=Hypertension-/-hearing-loss-risk-factor;DiseaseStatus=Reported
MT	7496	.	T	C	.	.	AC=3;AF=0.0046;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=28027978+25968158;Disease=Hearing-Loss;DiseaseStatus=Reported
MT	7497	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=+;heteroplasmy=+;PubmedIDs=9778262+29253894+31965079+14605505+15477393+16199753+20064630+22781547;Disease=MM-/-EXIT;DiseaseStatus=Cfrm-[LP]
MT	7501	.	T	A	.	.	AC=1;AF=0.0015;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=24491108+25088491+23735083;Disease=Cardiovascular-disease|-renal-disease-patient;DiseaseStatus=Reported
MT	7502	.	C	T	.	.	AC=4;AF=0.0061;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33289513;Disease=Reported-in-tic-disorder-patient;DiseaseStatus=Reported-[VUS]
MT	7505	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=20153673+30336267+25968158+32169613+22538251+33638616;Disease=Maternally-inherited-hearing-loss;DiseaseStatus=Reported-[VUS]
MT	7506	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=17614276;Disease=PEO-with-hearing-loss;DiseaseStatus=Reported
MT	7510	.	T	C	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=10978361+12471220+10905659+15126302+16361254+18252214+11215518+15292920+20064630+17489842+22781547+23430555+29299381+32970680;Disease=SNHL;DiseaseStatus=Cfrm-[LP]
MT	7511	.	T	C	.	.	AC=2;AF=0.0031;homoplasmy=+;heteroplasmy=+;PubmedIDs=10371545+12461693+31965079+10905659+14960712+15126302+15670746+10760311+16361254+15477393+18340555+12172268+17637808+11215518+15292920+20064630+17489842+29257206+28320335+26279247+25968158+32169613+22538251;Disease=SNHL/Deafness;DiseaseStatus=Cfrm-[LP]
MT	7512	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=+;PubmedIDs=7669057+9778262+9832034+31965079+15126302+16361254+15477393+16199753+11215518+15292920+20064630+17894844;Disease=PEM-/-MERME-/-MELAS;DiseaseStatus=Cfrm-[LP]
MT	7518	.	AA	A	.	.	AC=5;AF=0.0077;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33045734+32169613;Disease=Deafness-associated;DiseaseStatus=Reported
MT	7520	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079+18676632;Disease=Sporadic-bilateral-optic-neuropathy;DiseaseStatus=Reported
MT	7526	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=16059939;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported-[VUS]
MT	7530	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;Disease=Suspected-mitochondrial-disease;DiseaseStatus=Reported
MT	7539	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+25447692;Disease=Multisystemic-mitochondrial-disorder;DiseaseStatus=Reported
MT	7543	.	A	G	.	.	AC=54;AF=0.0827;homoplasmy=-;heteroplasmy=+;PubmedIDs=10488907+27119776+32970680;Disease=MEPR;DiseaseStatus=Reported
MT	7551	.	A	G	.	.	AC=2;AF=0.0031;homoplasmy=+;heteroplasmy=-;PubmedIDs=30592262+27544295+27536005+32169613+37789629;Disease=DEAF-increased-penetrance-(1555G-helper);DiseaseStatus=Reported
MT	7554	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23696415+32970680;Disease=Myopathy+ataxia+nystagmus+migraines+lactic-acidosis;DiseaseStatus=Reported
MT	7560	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=39056263;Disease=Focal-segmental-glomerulosclerosis-(FSGS)-with-cortical-blindness-+-pancreatitis;DiseaseStatus=Reported
MT	7566	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079;Disease=Unspecified-patient-from-clinical-lab;DiseaseStatus=Reported-[VUS]
MT	7587	.	T	C	.	.	AC=0;AF=0.0000;aachange=M1T;homoplasmy=-;heteroplasmy=+;PubmedIDs=10205264+21457906;Disease=Mitochondrial-Encephalomyopathy;DiseaseStatus=Cfrm-[LP]
MT	7598	.	G	A	.	.	AC=685;AF=1.0492;aachange=A5T;homoplasmy=-;heteroplasmy=+;PubmedIDs=16418878+27498855;Disease=Possible-LHON-helper-variant;DiseaseStatus=Reported;HGFL=E1:402/99.75|E2:93/100.00
MT	7623	.	C	T	.	.	AC=0;AF=0.0000;aachange=T13I;homoplasmy=+;heteroplasmy=-;PubmedIDs=17003408;Disease=LHON;DiseaseStatus=Reported
MT	7629	.	CT	C	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=18245391;Disease=MELAS;DiseaseStatus=Reported
MT	7637	.	G	A	.	.	AC=2;AF=0.0031;aachange=E18K;homoplasmy=-;heteroplasmy=+;PubmedIDs=19076426+38465286;Disease=PD-risk-factor-/-neurological-impairment;DiseaseStatus=Reported-[VUS]
MT	7671	.	T	A	.	.	AC=0;AF=0.0000;aachange=M29K;homoplasmy=-;heteroplasmy=+;PubmedIDs=10486321+21457906;Disease=MM;DiseaseStatus=Reported-[VUS]
MT	7695	.	T	C	.	.	AC=0;AF=0.0000;aachange=L37P;homoplasmy=-;heteroplasmy=+;PubmedIDs=30831263;Disease=Cerebellar-and-pyramidal-syndrome-with-cognitive-impairment;DiseaseStatus=Reported
MT	7697	.	G	A	.	.	AC=314;AF=0.4810;aachange=V38I;homoplasmy=+;heteroplasmy=-;PubmedIDs=19473338+23563965+27498855+33420243+27465874;Disease=Possible-HCM-susceptibility+-high-altitude-adaptation;DiseaseStatus=Reported
MT	7706	.	G	A	.	.	AC=11;AF=0.0168;aachange=A41T;homoplasmy=+;heteroplasmy=+;PubmedIDs=12612282+32652755;Disease=Alpers-Huttenlocher-like;DiseaseStatus=Reported
MT	7749	.	T	C	.	.	AC=2;AF=0.0031;aachange=I55T;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	7859	.	G	A	.	.	AC=187;AF=0.2864;aachange=D92N;homoplasmy=+;heteroplasmy=-;PubmedIDs=15286228;Disease=Progressive-Encephalomyopathy;DiseaseStatus=Reported;HGFL=H53:6/54.55|M4:26/72.22|Y2:63/100.00
MT	7868	.	C	T	.	.	AC=14;AF=0.0214;aachange=L95F;homoplasmy=+;heteroplasmy=-;PubmedIDs=19497304;Disease=LHON;DiseaseStatus=Reported---possibly-synergistic
MT	7877	.	A	C	.	.	AC=0;AF=0.0000;aachange=K98Q;homoplasmy=+;heteroplasmy=-;PubmedIDs=18246027;Disease=PEG-glaucoma;DiseaseStatus=Reported
MT	7887	.	G	A	.	.	AC=0;AF=0.0000;aachange=G101D;homoplasmy=-;heteroplasmy=+;PubmedIDs=34325999;Disease=Cerebellar-ataxia-+-neuropathy-+-exercise-intolerance;DiseaseStatus=Reported
MT	7896	.	G	A	.	.	AC=0;AF=0.0000;aachange=W104Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=11558799+22342700+31514455;Disease=Multisystem-Disorder;DiseaseStatus=Cfrm-[P]
MT	7943	.	T	C	.	.	AC=0;AF=0.0000;aachange=S120P;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	7965	.	T	C	.	.	AC=1;AF=0.0015;aachange=F127S;homoplasmy=.;heteroplasmy=+;PubmedIDs=30461153+28802248;Disease=Hepatic-failure-/-COX-deficiency;DiseaseStatus=Reported
MT	7970	.	G	T	.	.	AC=0;AF=0.0000;aachange=E129Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=16288875;Disease=Encephalopathy;DiseaseStatus=Reported
MT	7989	.	T	C	.	.	AC=0;AF=0.0000;aachange=L135P;homoplasmy=-;heteroplasmy=+;PubmedIDs=17886296+14733964;Disease=Rhabdomyolysis;DiseaseStatus=Reported-[VUS]
MT	8010	.	T	C	.	.	AC=4;AF=0.0061;aachange=V142A;homoplasmy=-;heteroplasmy=+;PubmedIDs=23463613;Disease=Developmental-delay+-ataxia+-seizure+-hypotonia+-lactic-acidosis;DiseaseStatus=Reported
MT	8021	.	A	G	.	.	AC=4;AF=0.0061;aachange=I146V;homoplasmy=+;heteroplasmy=-;PubmedIDs=24931671;Disease=Asthenozoospermia;DiseaseStatus=Reported
MT	8024	.	G	A	.	.	AC=1;AF=0.0015;aachange=E147K;homoplasmy=-;heteroplasmy=+;Disease=Bioenergetic-deficiency-with-optic-atrophy;DiseaseStatus=Reported
MT	8041	.	AAT	A	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=11471180;Disease=Lactic-Acidosis;DiseaseStatus=Reported-[VUS]
MT	8078	.	G	A	.	.	AC=28;AF=0.0429;aachange=V165I;homoplasmy=+;heteroplasmy=-;PubmedIDs=17637808+22241583;Disease=DEAF;DiseaseStatus=Reported
MT	8087	.	TT	T	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=30315213;Disease=Mitochondrial-myopathy-with-complex-IV-deficiency;DiseaseStatus=Cfrm-[LP]
MT	8108	.	A	G	.	.	AC=79;AF=0.1210;aachange=I175V;homoplasmy=+;heteroplasmy=-;PubmedIDs=15637703;Disease=SNHL;DiseaseStatus=Reported;HGFL=M11:43/100.00
MT	8118	.	GT	G	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=29343773;Disease=Biliary-atresia;DiseaseStatus=Reported
MT	8155	.	GG	G	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=28521807;Disease=Multi-system-mitochondrial-disorder;DiseaseStatus=Reported
MT	8163	.	A	G	.	.	AC=0;AF=0.0000;aachange=Y193C;homoplasmy=-;heteroplasmy=+;PubmedIDs=31167410;Disease=Late-onset-cerebellar-ataxia;DiseaseStatus=Reported
MT	8231	.	C	A	.	.	AC=0;AF=0.0000;aachange=L216M;homoplasmy=-;heteroplasmy=+;PubmedIDs=32096057;Disease=Coronary-artery-disease-risk-factor;DiseaseStatus=Reported
MT	8241	.	T	G	.	.	AC=0;AF=0.0000;aachange=F219C;homoplasmy=-;heteroplasmy=+;PubmedIDs=28890306+27422531;Disease=MIDD+retinopathy;DiseaseStatus=Conflicting-reports
MT	8249	.	G	A	.	.	AC=0;AF=0.0000;aachange=G222Term;homoplasmy=+;heteroplasmy=-;PubmedIDs=2624428+23841600;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported
MT	8296	.	A	G	.	.	AC=38;AF=0.0582;homoplasmy=+;heteroplasmy=+;PubmedIDs=9571188+9802769+9932960+10220138+11406419+29253894+31965079+12504210+15126302+15477393+15100439+18651333+10525672+15554876+10737988+11857739+19370763+24689073+32970680+32169613+37573175+20143911;Disease=DMDF-/-MERRF-/-HCM-/-epilepsy-/-hearing-loss;DiseaseStatus=Reported-[VUS]
MT	8299	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+22326363;Disease=PEO-+-respiratory-impairment;DiseaseStatus=Reported-[VUS]
MT	8302	.	A	T	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=11335700;Disease=Encephalopathy;DiseaseStatus=Unclear
MT	8304	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23696415;Disease=Epilepsy+ataxia+visual-disturbance+deafness;DiseaseStatus=Reported
MT	8305	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=29174468+29472063+29482911+29467576;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported
MT	8306	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23847141+22925535+29663531;Disease=Severe-adult-onset-multisymptom-myopathy-/-Myoclonic-epilepsy;DiseaseStatus=Cfrm-[VUS*]
MT	8311	.	T	C	.	.	AC=76;AF=0.1164;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+19778529;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported;HGFL=M54:9/81.82
MT	8313	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=9380435+29253894+12737626+15477393+15100439+17620140+19618438+35778412+34557026+41839886;Disease=MNGIE-like-/-Progressive-mito-cytopathy;DiseaseStatus=Cfrm-[LP]
MT	8315	.	A	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=35886028;Disease=MERRF;DiseaseStatus=Reported
MT	8316	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=15477393+15100439+10996780;Disease=MELAS;DiseaseStatus=Reported
MT	8319	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+23463613;Disease=Kearns-Sayre-syndrome;DiseaseStatus=Reported-[VUS]
MT	8326	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=12406974+12400067+15477393;Disease=Mitochondrial-Cytopathy;DiseaseStatus=Reported
MT	8328	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=10090475+15477393+15100439+17410322+19718780+32970680+40241304;Disease=Encephalopathy-/-EXIT-with-myopathy-and-ptosis|-multi-symptom-pt;DiseaseStatus=Reported
MT	8332	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=19930207;Disease=Dystonia-and-stroke-like-episodes;DiseaseStatus=Reported
MT	8337	.	T	C	.	.	AC=175;AF=0.2681;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+19778529;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported
MT	8339	.	A	G	.	.	AC=1;AF=0.0015;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	8340	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=28729369+34969639+19941338+23376095+23838278+24161205+29501485+32970680+36982871+36999085+34969639;Disease=Myopathy+-Exercise-Intolerance+-CPEO-like-/childhood-epilepsy-with-SNHL-&-eye-disease;DiseaseStatus=Cfrm-[LP]
MT	8342	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=10220860+15477393+15100439+19718780+32970680;Disease=PEO-and-Myoclonus;DiseaseStatus=Reported-[VUS]
MT	8343	.	A	G	.	.	AC=68;AF=0.1042;homoplasmy=+;heteroplasmy=-;PubmedIDs=19076426+31965079+16120352+19818876+29155328+30194987+33289513+25968158+32400865;Disease=Metabolic-syndrome-and-polycystic-ovary-syndrome-/-possible-PD-risk-factor-/-deafness;DiseaseStatus=Reported
MT	8344	.	A	G	.	.	AC=4;AF=0.0061;homoplasmy=-;heteroplasmy=+;PubmedIDs=1678125+8041403+8198140+8454287+8386419+8388680+8513395+1674297+1606473+8447321+1709275+1487239+8492942+8428629+1910259+8228033+1324294+1661776+2112427+1962048+8170567+1431990+8133313+1910341+8006688+3180221+8139569+2124116+1899320+1334369+7850981+7837776+7647790+7603535+1463006+7603509+7739567+7882812+7603536+9365365+9541428+9384601+9798744+9883816+9818878+9851442+8602753+10426322+11160915+8622733+10862082+10675533+10939569+10611124+11335700+11074292+16947981+15619607+15317755+15164143+15683723+17236134+17886296+17053148+18674747+16483543+16815877+16120315+22411789+23390135+23297368+25192510+25652200+26995359+26404827+29253894+30674338+31965079+34146515+34969639+12471464+12661941+12876264+14639582+14748908+15893315+15477393+15100439+10699170+10942580+17275787+17653689+7565871+7735877+17989367+15466086+8809026+18319067+18647627+19370763+16326995+19266142+19486129+10753928+20064630+19941338+20123042+20581069+18848389+21473984+8559379+21935892+19718780+22577219+22249460+23376095+23838278+10716764+24642831+22781547+29288969+29139113+23006856+29390138+30146801+31178486+31178476+29650490+31345444+17323145+24961732+28754700+30797798+22538251+25559684+32504279+24931247+35922766+36675808+36744444+28716227+31665838+36928678+23257519+37038312+37439868+37737178+23635963+37988592+38465286+39380483+32818253+34536563+35094435;Disease=MERRF|-Other---LD-/-depressive-mood-disorder-/-leukoencephalopathy-/-HiCM-/-lipomas;DiseaseStatus=Cfrm-[P]
MT	8345	.	CC	C	.	.	AC=7;AF=0.0107;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32105570;Disease=Rett-Syndrome;DiseaseStatus=Reported
MT	8347	.	A	G	.	.	AC=22;AF=0.0337;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+19778529+24689073;Disease=Poss.-hypertension-factor;DiseaseStatus=Reported
MT	8348	.	A	G	.	.	AC=148;AF=0.2267;homoplasmy=+;heteroplasmy=+;PubmedIDs=11446509+31965079+15477393+15100439+18252214+16337222+20064630+19778529+20111055;Disease=Cardiomyopathy-/-SNHL-/-poss.-hypertension-factor;DiseaseStatus=Reported
MT	8355	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=11335700+15477393;Disease=Myopathy;DiseaseStatus=Reported
MT	8356	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=1361099+8069654+7739567+16483543+25192510+31965079+15477393+15100439+16132471+20064630+20610441+22538251;Disease=MERRF;DiseaseStatus=Cfrm-[LP]
MT	8357	.	T	C	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=31912494+40834966;Disease=Multiple-symmetric-lipomatosis-/-multiorgan-disease;DiseaseStatus=Reported
MT	8361	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=25192510+14681892+15477393;Disease=MERRF;DiseaseStatus=Reported-[VUS]
MT	8362	.	T	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=11335700+23847141+31965079+15477393+15100439+29663531;Disease=Myopathy-/-ataxia-deafness-diabetes-mellitus;DiseaseStatus=Reported-[VUS]
MT	8363	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=8651277+9052804+9932960+21263444+25192510+31965079+10868777+11108511+15477393+15100439+18176892+18319067+15554876+10102446+19278689+19370763+16326995+20064630+19718780+29983856+25909222+22538251+35821181+39600123;Disease=MICM+DEAF-/-MERRF-/-Autism-/-Leigh-Syndrome-/-Ataxia-/-Lipomatosis;DiseaseStatus=Cfrm-[LP]
MT	8381	.	A	G	.	.	AC=17;AF=0.0260;aachange=T6A;homoplasmy=+;heteroplasmy=-;PubmedIDs=11062027+15452396+37340059+40112238;Disease=MIDD-/-LVNC-cardiomyopathy-assoc./-ATP6/8-deficiency;DiseaseStatus=Reported
MT	8382	.	C	T	.	.	AC=9;AF=0.0138;aachange=T6I;homoplasmy=-;heteroplasmy=+;PubmedIDs=32858252+38465286+37340059;Disease=Suspected-mito-disease-/-optic-neuropathy;DiseaseStatus=Reported
MT	8391	.	G	A	.	.	AC=0;AF=0.0000;aachange=W9Term;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=40112238;Disease=ATP6/8-deficiency;DiseaseStatus=Reported
MT	8393	.	C	T	.	.	AC=315;AF=0.4825;aachange=P10S;homoplasmy=-;heteroplasmy=+;PubmedIDs=17101920+21457906;Disease=Reversible-brain-pseudoatrophy;DiseaseStatus=Reported
MT	8403	.	T	C	.	.	AC=4;AF=0.0061;aachange=I13T;homoplasmy=+;heteroplasmy=-;PubmedIDs=24153443+37340059+40112238;Disease=Episodic-weakness-and-progressive-neuropathy-/-ATP6/8-deficiency;DiseaseStatus=Reported
MT	8411	.	A	G	.	.	AC=2;AF=0.0031;aachange=M16V;homoplasmy=+;heteroplasmy=-;PubmedIDs=20207608+37340059;Disease=Severe-mitochondrial-disorder;DiseaseStatus=Reported
MT	8412	.	T	C	.	.	AC=22;AF=0.0337;aachange=M16T;homoplasmy=+;heteroplasmy=-;PubmedIDs=31817256;Disease=Possible-LHON-helper-mutation;DiseaseStatus=Reported
MT	8414	.	C	T	.	.	AC=2397;AF=3.6715;aachange=L17F;homoplasmy=+;heteroplasmy=-;PubmedIDs=33420243+18468491+24498190;Disease=Increased-risk-of-T2DM-and-high-altitude-polycythemia-(HAPC)-in-hg-D4|-longevity|-reduced-risk-of-esophageal-cancer-[D1-D2-D3-D4-marker];DiseaseStatus=Reported;HGFL=D1:520/99.81|D2:99/100.00|D3:45/100.00|D4:1726/98.80
MT	8418	.	T	C	.	.	AC=1;AF=0.0015;aachange=L18P;homoplasmy=+;heteroplasmy=-;PubmedIDs=28027978+37340059;Disease=Severe-bilateral-optic-neuropathy;DiseaseStatus=Reported-[VUS]
MT	8424	.	T	C	.	.	AC=0;AF=0.0000;aachange=L20P;homoplasmy=96%;heteroplasmy=-;PubmedIDs=32858252+37340059+40241304;Disease=LS-/-failure-to-thrive-/-hypotonia-/-seizures|-Suspected-mito-disease;DiseaseStatus=Reported
MT	8481	.	C	T	.	.	AC=15;AF=0.0230;aachange=P39L;homoplasmy=+;heteroplasmy=-;PubmedIDs=23735083+37340059;Disease=Tetralogy-of-Fallot-patient;DiseaseStatus=Reported
MT	8490	.	T	C	.	.	AC=25;AF=0.0383;aachange=M42T;homoplasmy=+;heteroplasmy=-;PubmedIDs=18682780+18691441+24456990+37340059;Disease=Peripheral-neuropathy-of-T2DM;DiseaseStatus=Reported
MT	8519	.	G	A	.	.	AC=165;AF=0.2527;aachange=E52K;homoplasmy=+;heteroplasmy=-;PubmedIDs=25941154+31824475;Disease=Possible-susceptibility-to-bullous-pemphigoid;DiseaseStatus=Reported;HGFL=I4:151/100.00
MT	8527	.	A	G	.	.	AC=273;AF=0.4182;aachange=ATP8:K54K ATP6:M1M;homoplasmy=+;heteroplasmy=-;PubmedIDs=26993169;Disease=Neuromuscular-disorder+-possible-helper-mutation;DiseaseStatus=Reported
MT	8528	.	T	C	.	.	AC=0;AF=0.0000;aachange=ATP8:W55R ATP6:M1T;homoplasmy=+;heteroplasmy=+;PubmedIDs=19188198+34298071+21457906+26803244+30763462+33180048+30642647+26741492+27409572+40112238;Disease=Infantile-cardiomyopathy-/-hyperammonemia-/-ATP6/8-deficiency;DiseaseStatus=Cfrm-[LP]
MT	8529	.	G	A	.	.	AC=0;AF=0.0000;aachange=ATP8:W55Term ATP6:M1M;homoplasmy=+;heteroplasmy=-;PubmedIDs=17954552+18620007;Disease=Apical-HCM;DiseaseStatus=Reported-[VUS]
MT	8535	.	A	G	.	.	AC=0;AF=0.0000;aachange=ATP8:K57Term ATP6:E3E;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=40112238;Disease=ATP6/8-deficiency;DiseaseStatus=Reported
MT	8551	.	T	C	.	.	AC=18;AF=0.0276;aachange=ATP8:H62H ATP6:F9L;homoplasmy=+;heteroplasmy=-;PubmedIDs=31817256;Disease=Possible-LHON-helper-mutation;DiseaseStatus=Reported
MT	8558	.	C	T	.	.	AC=15;AF=0.0230;aachange=ATP8:P65S ATP6:A11V;homoplasmy=+;heteroplasmy=-;PubmedIDs=20211276;Disease=Possibly-LVNC-cardiomyopathy-associated;DiseaseStatus=Reported
MT	8561	.	C	G,T	.	.	AC=0,0;AF=0.0000,0.0000;aachange=ATP8:P66A ATP6:P12R,ATP8:P66S ATP6:P12L;homoplasmy=+,-;heteroplasmy=+,+;PubmedIDs=27502083,31788426;Disease=Ataxia-w-neuropathy+-DM+-SNHL+-and-hypogonadism,Ataxia-w-psychomotor-delay;DiseaseStatus=Reported,Reported
MT	8570	.	T	C	.	.	AC=0;AF=0.0000;aachange=ATP8:Term69Q ATP6:L15P;homoplasmy=-;heteroplasmy=+;PubmedIDs=31123110+40241304+40112238+40367733;Disease=Congenital-sideroblastic-anemia-(CSA)-/-ATP6/8-deficiency-/-MILS;DiseaseStatus=Reported-[VUS]
MT	8572	.	G	A	.	.	AC=273;AF=0.4182;aachange=ATP8:Term69Term ATP6:G16S;homoplasmy=+;heteroplasmy=-;PubmedIDs=34037856;Disease=Spinocerebellar-ataxia;DiseaseStatus=Reported;HGFL=P2:91/98.91
MT	8573	.	G	A	.	.	AC=67;AF=0.1026;aachange=G16D;homoplasmy=+;heteroplasmy=-;PubmedIDs=30763462;Disease=Patient-with-suspected-mitochondrial-disease;DiseaseStatus=Reported-by-paper-as-Benign
MT	8578	.	C	T	.	.	AC=31;AF=0.0475;aachange=P18S;homoplasmy=+;heteroplasmy=-;PubmedIDs=34037856;Disease=Spinocerebellar-ataxia;DiseaseStatus=Reported;HGFL=H36:28/96.55
MT	8579	.	C	T	.	.	AC=0;AF=0.0000;aachange=P18L;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=40112238;Disease=ATP6/8-deficiency;DiseaseStatus=Reported
MT	8597	.	T	C	.	.	AC=17;AF=0.0260;aachange=I24T;homoplasmy=-;heteroplasmy=+;PubmedIDs=30763462+22348497;Disease=Leigh-Syndrome;DiseaseStatus=Reported
MT	8606	.	C	T	.	.	AC=0;AF=0.0000;aachange=P27L;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	8608	.	C	T	.	.	AC=1;AF=0.0015;aachange=P28S;homoplasmy=+;heteroplasmy=-;PubmedIDs=30763462;Disease=Patient-with-suspected-mitochondrial-disease;DiseaseStatus=Reported
MT	8611	.	C	A,CC	.	.	AC=5,0;AF=0.0077,0.0000;aachange=L29M,frameshift;homoplasmy=+,-;heteroplasmy=-,+;PubmedIDs=40241304,23847141+28412374+40112238;Disease=Neurodevelopmental-delay-+cerebellar-atrophy-+strabismus,Ataxia+-microcephaly+-developmental-delay+-intellectual-disability-/-ATP6/8-deficiency;DiseaseStatus=Reported,Reported
MT	8612	.	T	C	.	.	AC=0;AF=0.0000;aachange=L29P;homoplasmy=+;heteroplasmy=-;PubmedIDs=30763462+35303589+40112238;Disease=Arm-and-leg-weakness+-incontinence+-developmental-delay+-autism+-epilepsy-/-ATP6/8-deficiency;DiseaseStatus=Reported
MT	8618	.	T	TT	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=19124644+30763462+32042910+34732400;Disease=NARP/cognitive-decline+abnormal-brain-MRI+impaired-kidney-function;DiseaseStatus=Cfrm-[LP]
MT	8639	.	T	C	.	.	AC=26;AF=0.0398;aachange=I38T;homoplasmy=+;heteroplasmy=-;PubmedIDs=23463613+32858252+31743754;Disease=Possible-LHON-modulator;DiseaseStatus=Reported
MT	8668	.	T	C	.	.	AC=39;AF=0.0597;aachange=W48R;homoplasmy=+;heteroplasmy=-;PubmedIDs=20454697;Disease=LHON;DiseaseStatus=Reported
MT	8672	.	T	C	.	.	AC=0;AF=0.0000;aachange=L49P;homoplasmy=-;heteroplasmy=+;PubmedIDs=40400026;Disease=lntrauterine-growth-retardation+truncal-hypotonia+microcephaly+developmental-delay+left-ventricular-noncompaction+WPW;DiseaseStatus=Reported
MT	8691	.	A	G	.	.	AC=7;AF=0.0107;aachange=K55K;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=30763462+26053701;Disease=Infantile-mito-disease-w-subclinical-hypothyroidism;DiseaseStatus=Reported
MT	8716	.	A	TA	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=40112238;Disease=ATP6/8-deficiency;DiseaseStatus=Reported-as-8716dupT
MT	8719	.	G	A	.	.	AC=0;AF=0.0000;aachange=G65Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=23463613+32652755;Disease=Suspected-mito-disease;DiseaseStatus=Reported-[VUS]
MT	8723	.	G	T	.	.	AC=0;AF=0.0000;aachange=R66L;homoplasmy=99%;heteroplasmy=-;PubmedIDs=30763462+40112238;Disease=Patient-with-suspected-mitochondrial-disease-/-ATP6/8-deficiency;DiseaseStatus=Reported
MT	8741	.	T	G	.	.	AC=0;AF=0.0000;aachange=L72R;homoplasmy=-;heteroplasmy=+;PubmedIDs=19433277;Disease=MILS-protective-factor;DiseaseStatus=Reported
MT	8746	.	T	C	.	.	AC=0;AF=0.0000;aachange=S74P;homoplasmy=.;heteroplasmy=.;PubmedIDs=40112238;Disease=ATP6/8-deficiency;DiseaseStatus=Reported
MT	8777	.	T	C	.	.	AC=0;AF=0.0000;aachange=L84P;homoplasmy=-;heteroplasmy=+;PubmedIDs=38755691;Disease=Adult-onset-cerebellar-ataxia-;DiseaseStatus=Reported
MT	8779	.	C	T	.	.	AC=1;AF=0.0015;aachange=L85F;homoplasmy=+;heteroplasmy=-;PubmedIDs=31743754;Disease=Possible-LHON-modulator;DiseaseStatus=Reported
MT	8782	.	G	A	.	.	AC=0;AF=0.0000;aachange=G86Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=32042910+40112238;Disease=Cerebellar-ataxia+diabetes+kidney-disease-/-ataxia+myoclonic-epilepsy-/-ATP6/8-deficiency;DiseaseStatus=Reported
MT	8783	.	G	A	.	.	AC=2;AF=0.0031;aachange=G86E;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32652755;Disease=Unspecified-suspected-mitochondrial-disorder;DiseaseStatus=Reported-[VUS]
MT	8794	.	C	T	.	.	AC=1817;AF=2.7831;aachange=H90Y;homoplasmy=+;heteroplasmy=-;PubmedIDs=15126279+21099167;Disease=Exercise-Endurance-/-Coronary-Atherosclerosis-risk;DiseaseStatus=Reported;HGFL=A1:15/100.00|A11:40/100.00|A12:13/100.00|A13:27/100.00|A14:38/100.00|A15:79/100.00|A17:48/100.00|A2:1198/99.75|A21:13/100.00|A5:119/100.00|A6:20/100.00|A8:28/100.00
MT	8795	.	A	G	.	.	AC=0;AF=0.0000;aachange=H90R;homoplasmy=-;heteroplasmy=+;PubmedIDs=19433277;Disease=MILS-protective-factor;DiseaseStatus=Reported
MT	8797	.	T	C	.	.	AC=0;AF=0.0000;aachange=S91P;homoplasmy=-;heteroplasmy=+;PubmedIDs=40241304;Disease=Leigh-syndrome-spectrum;DiseaseStatus=Reported
MT	8806	.	C	G	.	.	AC=0;AF=0.0000;aachange=P94A;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32858252;Disease=Suspected-mito-disease;DiseaseStatus=Reported
MT	8812	.	A	G	.	.	AC=78;AF=0.1195;aachange=T96A;homoplasmy=-;heteroplasmy=+;PubmedIDs=34037856+36563715;Disease=Spinocerebellar-ataxia-/-PCOS-patient;DiseaseStatus=Reported;HGFL=H104:8/72.73
MT	8821	.	T	G	.	.	AC=0;AF=0.0000;aachange=S99A;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=15896721;Disease=Possible-LHON-helper-variant;DiseaseStatus=Reported
MT	8836	.	A	G	.	.	AC=184;AF=0.2818;aachange=M104V;homoplasmy=+;heteroplasmy=-;PubmedIDs=17003408+21457906+32887465;Disease=LHON;DiseaseStatus=Reported
MT	8839	.	G	C	.	.	AC=0;AF=0.0000;aachange=A105P;homoplasmy=-;heteroplasmy=+;PubmedIDs=30763462+24118886+29467576;Disease=NARP-syndrome;DiseaseStatus=Reported-[VUS]
MT	8843	.	T	C	.	.	AC=232;AF=0.3554;aachange=I106T;homoplasmy=+;heteroplasmy=-;PubmedIDs=30763462+37083953+36563715;Disease=Patient-with-suspected-mitochondrial-disease-/-PCOS-patient;DiseaseStatus=Reported-by-paper-as-Likely-Benign;HGFL=A11:31/77.50|H45:26/100.00
MT	8851	.	T	C	.	.	AC=4;AF=0.0061;aachange=W109R;homoplasmy=+;heteroplasmy=+;PubmedIDs=8554662+24002810+29253894+21457906+21470976+23206802+30763462+18620007+32652755;Disease=BSN-/-Leigh-syndrome;DiseaseStatus=Cfrm-[VUS*]
MT	8858	.	G	A	.	.	AC=0;AF=0.0000;aachange=G111D;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=40112238;Disease=ATP6/8-deficiency;DiseaseStatus=Reported
MT	8879	.	G	T	.	.	AC=0;AF=0.0000;aachange=R118L;homoplasmy=-;heteroplasmy=+;PubmedIDs=38755691;Disease=Adult-onset-cerebellar-ataxia---possible-helper-mutant-for-m.8777C;DiseaseStatus=Reported
MT	8881	.	T	C	.	.	AC=3;AF=0.0046;aachange=S119P;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=30763462;Disease=Patient-with-suspected-mitochondrial-disease;DiseaseStatus=Reported
MT	8890	.	A	G	.	.	AC=0;AF=0.0000;aachange=K122E;homoplasmy=-;heteroplasmy=+;PubmedIDs=23921547;Disease=Juvenile-onset-metabolic-syndrome;DiseaseStatus=Reported
MT	8902	.	G	A	.	.	AC=9;AF=0.0138;aachange=A126T;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32858252;Disease=Suspected-mito-disease;DiseaseStatus=Reported
MT	8909	.	T	C	.	.	AC=0;AF=0.0000;aachange=F128S;homoplasmy=+;heteroplasmy=-;PubmedIDs=32971864;Disease=Recurrent-severe-kidney-disease-and-multiple-systemic-dysfunctions;DiseaseStatus=Reported
MT	8921	.	G	A	.	.	AC=9;AF=0.0138;aachange=G132D;homoplasmy=+;heteroplasmy=-;PubmedIDs=30763462;Disease=Patient-with-suspected-mitochondrial-disease;DiseaseStatus=Reported
MT	8932	.	C	T	.	.	AC=273;AF=0.4182;aachange=P136S;homoplasmy=+;heteroplasmy=-;PubmedIDs=18850577+15647368+26993169;Disease=Prostate-tumor-/-Neuromuscular-disorder;DiseaseStatus=Reported-[B]
MT	8936	.	T	A	.	.	AC=1;AF=0.0015;aachange=L137H;homoplasmy=-;heteroplasmy=+;PubmedIDs=29929013;Disease=Atypical-Leigh-syndrome;DiseaseStatus=Reported-[VUS]
MT	8938	.	A	G	.	.	AC=51;AF=0.0781;aachange=I138V;homoplasmy=+;heteroplasmy=-;PubmedIDs=30763462;Disease=Patient-with-suspected-mitochondrial-disease;DiseaseStatus=Reported
MT	8950	.	G	A	.	.	AC=86;AF=0.1317;aachange=V142I;homoplasmy=+;heteroplasmy=-;PubmedIDs=16196519+18495510+30763462+34037856+37083953;Disease=LDYT-/-Spinocerebellar-Ataxia;DiseaseStatus=Reported
MT	8951	.	T	C	.	.	AC=10;AF=0.0153;aachange=V142A;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32504279;Disease=Patient-with-ataxia;DiseaseStatus=Reported
MT	8959	.	G	A	.	.	AC=4;AF=0.0061;aachange=E145K;homoplasmy=+;heteroplasmy=+;PubmedIDs=29307858+29480377+40112238;Disease=Developmental-delay+-intellectual-disability+-low-citrilline-/-ATP6/8-deficiency;DiseaseStatus=Reported
MT	8969	.	G	A,C	.	.	AC=1,0;AF=0.0015,0.0000;aachange=S148N,S148T;homoplasmy=-,nr;heteroplasmy=+,nr;PubmedIDs=25037980+27450679+29350304+27812026+30763462+34732400+37988592+40241304+40112238,32858252;Disease=Mitochondrial-myopathy+-lactic-acidosis-and-sideroblastic-anemia-(MLASA)-/-IgG-nephropathy-/-ATP6/8-deficiency,Suspected-mito-disease;DiseaseStatus=Cfrm-[LP],Reported
MT	8975	.	T	C	.	.	AC=23;AF=0.0352;aachange=L150P;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32858252;Disease=Suspected-mito-disease;DiseaseStatus=Reported
MT	8989	.	G	C	.	.	AC=0;AF=0.0000;aachange=A155P;homoplasmy=-;heteroplasmy=+;PubmedIDs=34969639+30763462+23266623;Disease=NARP-syndrome;DiseaseStatus=Reported
MT	8993	.	T	C,G	.	.	AC=2,6;AF=0.0031,0.0092;aachange=L156P,L156R;homoplasmy=-,+;heteroplasmy=+,+;PubmedIDs=8395787+8190310+9568930+9701486+9762610+9870208+8687192+8602753+10417290+10862082+11074292+23297368+25192510+26404827+29253894+14748908+15324306+10222646+17568559+18402672+15466086+18496570+18055910+16532470+20064630+20123042+19747204+17403843+21457906+24153443+16049925+24642831+30095618+29512743+19875463+10467733+30128709+30763462+32042921+31996241+31187502+18620007+17323145+32858252+19160410+29101127+33717984+28429146+31665838+37038312+38897591+40241304+35094435+40112238,8095070+1539598+2137962+1442494+8240109+8042671+8435424+8250532+1436530+1550128+8476414+8078883+8505474+7529982+7605802+7798979+7603783+9199572+9329425+9568930+9222207+9556461+9686360+9870208+8687192+8602753+8830176+10426322+10417290+10092618+10862082+10889120+10611124+11925565+12372991+11074292+14998933+16639504+17886296+17545557+17257906+18261463+18413591+17518546+17170133+18674747+18850577+16483543+20471050+20854934+21550418+20138159+22080835+23297368+19891062+25192510+27919073+28385334+28385333+26404827+29253894+30369864+34080141+11076946+10660580+14748908+15647368+8751860+16050991+9858860+16402916+16525806+17452590+17568559+18256697+18402672+18241671+10611123+11331900+18496570+16337222+18647627+19370763+19433277+16532470+20064630+20123042+19747204+15753359+17403843+21457906+8858707+11453454+21120938+15282179+24642831+25009317+25152966+27450679+27206685+27209570+30095618+29983856+29587845+29452638+27466392+30379275+30726454+30768233+29307858+19875463+10590437+10669202+29602698+25240982+27450367+27000225+29224958+30461153+29980632+30763462+32042921+31996241+31187502+18620007+17323145+26725255+32858252+15694179+27129022+17276738+19667215+19160410+8750605+16546428+12404959+32313153+12134275+11751691+11730668+11371515+11843698+10676807+22241703+23301511+29850888+17276742+19669818+19144360+29101127+31276579+28754700+16542579+32220313+34829316+33717984+28429146+33600551+31665838+37038312+37439868+37737178+38465286+34536563+40241304+35094435+31017045+40112238;Disease=NARP-/-Leigh-Disease-/-MILS-/-ATP6/8-deficiency-/-other,NARP-/-Leigh-Disease-/-MILS-/-ATP6/8-deficiency-/-other;DiseaseStatus=Cfrm-[P],Cfrm-[P]
MT	8993	.	TG	CA	.	.	AC=0;AF=0.0000;aachange=L156P;homoplasmy=+;heteroplasmy=+;PubmedIDs=32652755;Disease=Developmental-delay-&-myopathy;DiseaseStatus=Cfrm-[LP]
MT	8999	.	T	C	.	.	AC=9;AF=0.0138;aachange=V158A;homoplasmy=+;heteroplasmy=-;PubmedIDs=30763462+32858252;Disease=Patient-with-suspected-mitochondrial-disease;DiseaseStatus=Reported
MT	9005	.	T	C	.	.	AC=2;AF=0.0031;aachange=L160P;homoplasmy=.;heteroplasmy=.;PubmedIDs=40112238;Disease=ATP6/8-deficiency;DiseaseStatus=Reported
MT	9008	.	C	G	.	.	AC=2;AF=0.0031;aachange=T161S;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32858252;Disease=Suspected-mito-disease;DiseaseStatus=Reported
MT	9010	.	G	A	.	.	AC=28;AF=0.0429;aachange=A162T;homoplasmy=-;heteroplasmy=+;PubmedIDs=30227252;Disease=Unspecified-neurological-disorder;DiseaseStatus=Reported
MT	9016	.	A	G	.	.	AC=13;AF=0.0199;aachange=I164V;homoplasmy=-;heteroplasmy=+;PubmedIDs=16050984+17123466+37083953;Disease=LHON;DiseaseStatus=Reported
MT	9017	.	T	C	.	.	AC=14;AF=0.0214;aachange=I164T;homoplasmy=-;heteroplasmy=+;PubmedIDs=30227252;Disease=Unspecified-neurological-disorder;DiseaseStatus=Reported
MT	9019	.	A	G	.	.	AC=0;AF=0.0000;aachange=T165A;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32858252;Disease=Suspected-mito-disease;DiseaseStatus=Reported
MT	9025	.	G	A	.	.	AC=46;AF=0.0705;aachange=G167S;homoplasmy=+;heteroplasmy=-;PubmedIDs=24986921+30763462+37083953;Disease=Motor-neuropathy+-Leigh-like+-colon-cancer;DiseaseStatus=Reported-[VUS]
MT	9026	.	G	A	.	.	AC=3;AF=0.0046;aachange=G167D;homoplasmy=-;heteroplasmy=+;PubmedIDs=24448545+30763462+34037856;Disease=Spinocerebellar-ataxia-/-patient-with-suspected-mitochondrial-disease;DiseaseStatus=Reported-[VUS]
MT	9029	.	A	G	.	.	AC=1;AF=0.0015;aachange=H168R;homoplasmy=+;heteroplasmy=+;PubmedIDs=23463613+24986921+30763462+32652755+37083953;Disease=LHON-like;DiseaseStatus=Reported
MT	9032	.	T	C	.	.	AC=0;AF=0.0000;aachange=L169P;homoplasmy=-;heteroplasmy=+;PubmedIDs=24986921+30763462+32931937+32581362+40112238;Disease=NARP-/-Complex-phenotype-with-microcephaly+-ataxia+-hearing-loss+-lactic-acidosis-/-ATP6/8-deficiency;DiseaseStatus=Reported-[VUS]
MT	9035	.	T	C	.	.	AC=0;AF=0.0000;aachange=L170P;homoplasmy=+;heteroplasmy=+;PubmedIDs=34969639+19626676+22577227+30763462+31187502+32858252+29467576+35159298+40112238+41222985;Disease=Ataxia-syndromes-/-ATP6/8-deficiency;DiseaseStatus=Cfrm-[LP]
MT	9041	.	A	G	.	.	AC=52;AF=0.0796;aachange=H172R;homoplasmy=-;heteroplasmy=+;PubmedIDs=30763462;Disease=Patient-with-suspected-mitochondrial-disease;DiseaseStatus=Reported
MT	9049	.	G	A	.	.	AC=0;AF=0.0000;aachange=G175Term;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32652755+40112238;Disease=Unspecified-suspected-mitochondrial-disorder-/-ATP6/8-deficiency;DiseaseStatus=Reported-[VUS]
MT	9055	.	G	A	.	.	AC=2639;AF=4.0422;aachange=A177T;homoplasmy=+;heteroplasmy=-;PubmedIDs=12618962;Disease=PD-protective-factor;DiseaseStatus=Reported;HGFL=K1:1909/99.32|K2:377/99.74
MT	9058	.	A	G	.	.	AC=41;AF=0.0628;aachange=T178A;homoplasmy=+;heteroplasmy=-;PubmedIDs=20211276+37083953+36563715;Disease=Patients-with-(1)-LVNC-cardiomyopathy|-(2)-autism+-intellectual-disability+-epilepsy|-(3)-PCOS;DiseaseStatus=Reported-as-(1)-possible-association-or-as-(2)-benign
MT	9071	.	C	T	.	.	AC=16;AF=0.0245;aachange=S182L;homoplasmy=+;heteroplasmy=-;PubmedIDs=23304069;Disease=Potentially-functional-variant-cosegregating-with-LHON3635A;DiseaseStatus=Reported
MT	9088	.	T	C	.	.	AC=25;AF=0.0383;aachange=S188P;homoplasmy=-;heteroplasmy=+;PubmedIDs=30763462;Disease=Patient-with-suspected-mitochondrial-disease;DiseaseStatus=Reported-by-paper-as-Likely-Benign
MT	9098	.	T	C	.	.	AC=69;AF=0.1057;aachange=I191T;homoplasmy=+;heteroplasmy=-;PubmedIDs=19947808;Disease=Predisposition-to-anti-retroviral-mito-disease;DiseaseStatus=Reported
MT	9101	.	T	C	.	.	AC=67;AF=0.1026;aachange=I192T;homoplasmy=+;heteroplasmy=-;PubmedIDs=7726182+20301353+27498855+16132471+21457906+30763462+18620007+35773337;Disease=LHON;DiseaseStatus=Reported
MT	9115	.	A	G	.	.	AC=33;AF=0.0505;aachange=I197V;homoplasmy=+;heteroplasmy=-;PubmedIDs=17320116+30763462;Disease=Patient-with-suspected-mitochondrial-disease;DiseaseStatus=Reported;HGFL=M46:8/50.00
MT	9126	.	TAT	T	.	.	AC=0;AF=0.0000;aachange=IL-PTerm;homoplasmy=-;heteroplasmy=+;PubmedIDs=29054413;Disease=NARP;DiseaseStatus=Reported
MT	9133	.	G	A	.	.	AC=4;AF=0.0061;aachange=E203K;homoplasmy=+;heteroplasmy=-;PubmedIDs=30763462;Disease=Patient-with-suspected-mitochondrial-disease;DiseaseStatus=Reported
MT	9134	.	A	G	.	.	AC=0;AF=0.0000;aachange=E203G;homoplasmy=-;heteroplasmy=+;PubmedIDs=22231385+30763462+32652755+40241304;Disease=Hypotonia+-lactic-acidosis+-HCM+-IUGR;DiseaseStatus=Reported-[VUS]
MT	9139	.	G	A	.	.	AC=52;AF=0.0796;aachange=A205T;homoplasmy=+;heteroplasmy=-;PubmedIDs=18216301+37083953;Disease=LHON;DiseaseStatus=Reported---possibly-synergistic
MT	9152	.	T	C	.	.	AC=17;AF=0.0260;aachange=I209T;homoplasmy=-;heteroplasmy=+;PubmedIDs=30763462;Disease=Patient-with-suspected-mitochondrial-disease;DiseaseStatus=Reported-[VUS]
MT	9154	.	C	T	.	.	AC=0;AF=0.0000;aachange=Q210Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=34418069+34635923+37737178;Disease=Peripheral-neuropathy-ataxia-IgA-nephropathy;DiseaseStatus=Reported
MT	9155	.	A	G,T	.	.	AC=0,0;AF=0.0000,0.0000;aachange=Q210R,Q210L;homoplasmy=-,+;heteroplasmy=+,+;PubmedIDs=27450679+27966441+34961688,29307858;Disease=MIDD+-renal-insufficiency,Developmental-delay+-intellectual-disability+-low-citrilline;DiseaseStatus=Cfrm-[LP],Reported
MT	9166	.	T	C	.	.	AC=0;AF=0.0000;aachange=F214L;homoplasmy=+;heteroplasmy=+;PubmedIDs=32419253+28027978;Disease=EXIT+more-/-bilateral-optic-neuropathy;DiseaseStatus=Reported
MT	9176	.	T	C,G	.	.	AC=3,1;AF=0.0046,0.0015;aachange=L217P,L217R;homoplasmy=+,+;heteroplasmy=+,+;PubmedIDs=7668837+9270604+9501263+9631394+10862082+20074547+29253894+16120341+18402672+19370763+20064630+19747204+20056103+15753359+20656066+21457906+21819970+24153443+24642831+30136164+30128709+29756269+30763462+32042921+31996241+31187502+18620007+29038134+31625254+32858252+19160410+32686207+34037856+28429146+31424416+32348839+22971232+35094435+40112238+40140764,11119722+11382202+29253894+18402672+11731285+29307858+11245730+15176724+19875463+30763462+19160410+38465286+40112238;Disease=FBSN-/-Leigh-Disease-/-Spinocerebellar-Ataxia-/-ATP6/8-deficiency,Leigh-Disease-/-Spastic-Paraplegia-/-Spinocerebellar-Ataxia-/-ATP6/8-deficiency;DiseaseStatus=Cfrm-[P],Cfrm-[LP]
MT	9185	.	T	C	.	.	AC=3;AF=0.0046;aachange=L220P;homoplasmy=+;heteroplasmy=+;PubmedIDs=16217706+23847141+29253894+18461509+17352390+19747204+21473984+21457906+22577227+24153443+20546952+25548692+27290639+22933740+29228836+30128709+30461153+29756269+30763462+32042921+31996241+31187502+18620007+32858252+24316278+28754700+29116603+31500933+27783406+28132834+34329598+33717984+28429146+29467576+36137325+37737178+35094435+40112238;Disease=Leigh-Disease-/-Ataxia-syndromes-/-NARP-like-disease-/-Episodic-weakness-and-Charcot-Marie-Tooth-/-ATP6/8-deficiency;DiseaseStatus=Cfrm-[P]
MT	9191	.	T	C	.	.	AC=0;AF=0.0000;aachange=L222P;homoplasmy=-;heteroplasmy=+;PubmedIDs=16217706+39843744+30763462+18620007+32708436+24316278;Disease=Leigh-Disease;DiseaseStatus=Cfrm-[LP]
MT	9203	.	CAT	C	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=.;heteroplasmy=.;PubmedIDs=40112238;Disease=ATP6/8-deficiency;DiseaseStatus=Reported
MT	9204	.	ATA	A	.	.	AC=0;AF=0.0000;aachange=Term-M;homoplasmy=+;heteroplasmy=-;PubmedIDs=24667782+12915481+18221507+14585098+16326995+8739943+15265003+30763462+18620007+25588698;Disease=Encephalopathy-/-Seizures-/-Lacticacidemia;DiseaseStatus=Cfrm-[LP]
MT	9237	.	G	A	.	.	AC=0;AF=0.0000;aachange=V11M;homoplasmy=na;heteroplasmy=na;PubmedIDs=28027978;Disease=Mitochondrial-Respiratory-Chain-Disorder;DiseaseStatus=Reported-[VUS]
MT	9247	.	G	C	.	.	AC=0;AF=0.0000;aachange=S14T;homoplasmy=nr;heteroplasmy=nr;Disease=MELAS;DiseaseStatus=Reported
MT	9266	.	G	T	.	.	AC=1;AF=0.0015;aachange=G20G;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	9267	.	G	C	.	.	AC=0;AF=0.0000;aachange=A21P;homoplasmy=-;heteroplasmy=+;PubmedIDs=25701779;Disease=MIDD;DiseaseStatus=Reported
MT	9331	.	T	C	.	.	AC=1;AF=0.0015;aachange=L42P;homoplasmy=+;heteroplasmy=-;PubmedIDs=30831263;Disease=Failure-to-thrive-with-metabolic-acidosis+-cognitive-impairment+-optic-atrophy;DiseaseStatus=Reported
MT	9379	.	G	A	.	.	AC=0;AF=0.0000;aachange=W58Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=12414820;Disease=MM-w-lactic-acidosis;DiseaseStatus=Reported-[VUS]
MT	9387	.	G	A	.	.	AC=0;AF=0.0000;aachange=V61M;homoplasmy=-;heteroplasmy=+;PubmedIDs=23645088;Disease=Asthenozoospermia;DiseaseStatus=Reported
MT	9399	.	A	G	.	.	AC=1;AF=0.0015;aachange=S65G;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32504279;Disease=Patient-with-epilepsy+-myopathy+-hypoacusis+-psychiatric-disorders;DiseaseStatus=Reported
MT	9403	.	C	A	.	.	AC=0;AF=0.0000;aachange=T66K;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	9415	.	A	G	.	.	AC=0;AF=0.0000;aachange=H70R;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	9438	.	G	A	.	.	AC=805;AF=1.2330;aachange=G78S;homoplasmy=+;heteroplasmy=-;PubmedIDs=8037217+8037201+8240356+7804416+8053461+7710535+7599218+7573056+10520236+16132471+18161625+21457906+29976239;Disease=LHON-/-gout;DiseaseStatus=Conflicting-reports;HGFL=M23:231/99.14
MT	9444	.	C	T	.	.	AC=1;AF=0.0015;aachange=R80W;homoplasmy=+;heteroplasmy=-;PubmedIDs=31817256;Disease=Possible-LHON-helper-mutation;DiseaseStatus=Reported
MT	9478	.	T	C	.	.	AC=22;AF=0.0337;aachange=V91A;homoplasmy=-;heteroplasmy=+;PubmedIDs=29253894+20525945+23301511;Disease=Leigh-Disease;DiseaseStatus=Reported-[VUS]
MT	9479	.	TTTTTTCTTCGCAGGA	T	.	.	AC=0;AF=0.0000;aachange=FFFAG-del;homoplasmy=-;heteroplasmy=+;PubmedIDs=8630495+20854934+11506394+10788526+11782982;Disease=Myoglobinuria;DiseaseStatus=Cfrm-[LP]+-alt-locus-at-9487del15
MT	9486	.	TTCGCAGGATTTTTCT	T	.	.	AC=0;AF=0.0000;aachange=FFAGFF-del;homoplasmy=-;heteroplasmy=+;PubmedIDs=8630495;Disease=Myoglobinuria;DiseaseStatus=alt-loc-to-9480del15-[LP]
MT	9490	.	C	T	.	.	AC=25;AF=0.0383;aachange=A95V;homoplasmy=+;heteroplasmy=-;PubmedIDs=29976239;Disease=Gout;DiseaseStatus=Reported
MT	9537	.	C	CC	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=+;heteroplasmy=-;PubmedIDs=11063732+18977334;Disease=Leigh-Disease;DiseaseStatus=Cfrm-[LP]
MT	9544	.	G	A	.	.	AC=0;AF=0.0000;aachange=G113E;homoplasmy=-;heteroplasmy=+;PubmedIDs=18676632+41679129;Disease=Sporadic-bilateral-optic-neuropathy-/-rhabdomyolysis;DiseaseStatus=Reported
MT	9553	.	G	A	.	.	AC=0;AF=0.0000;aachange=W116Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=33863631;Disease=Adult-onset-MELAS;DiseaseStatus=Reported
MT	9558	.	CC	C	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=21163656;Disease=Rhabdomyolysis;DiseaseStatus=Reported
MT	9660	.	A	C	.	.	AC=0;AF=0.0000;aachange=M152L;homoplasmy=+;heteroplasmy=-;PubmedIDs=17003408;Disease=LHON;DiseaseStatus=Reported
MT	9738	.	G	A,T	.	.	AC=231,0;AF=0.3538,0.0000;aachange=A178T,A178S;homoplasmy=nr,+;heteroplasmy=nr,-;PubmedIDs=7804416;Disease=Marfan-Syndrome-patients,LHON;DiseaseStatus=Reported,Reported
MT	9789	.	T	C	.	.	AC=0;AF=0.0000;aachange=S195P;homoplasmy=-;heteroplasmy=+;PubmedIDs=16288875;Disease=Myopathy;DiseaseStatus=Reported
MT	9804	.	G	A	.	.	AC=193;AF=0.2956;aachange=A200T;homoplasmy=+;heteroplasmy=+;PubmedIDs=8240356+7710535+7599218+10520236+11339587+20301353+16132471+21457906+23735083+30831606+11579587+27119776;Disease=LHON-/-MS;DiseaseStatus=Reported-[VUS]
MT	9856	.	T	C	.	.	AC=21;AF=0.0322;aachange=I217T;homoplasmy=+;heteroplasmy=-;PubmedIDs=23465694+29976239;Disease=LVNC-cardiomyopathy-/-gout;DiseaseStatus=Reported
MT	9861	.	T	C	.	.	AC=136;AF=0.2083;aachange=F219L;homoplasmy=+;heteroplasmy=-;PubmedIDs=16358358;Disease=AD;DiseaseStatus=Reported
MT	9907	.	G	A	.	.	AC=0;AF=0.0000;aachange=G234D;homoplasmy=-;heteroplasmy=+;PubmedIDs=37038312;Disease=Cavitating-leukodystrophy;DiseaseStatus=Reported
MT	9921	.	G	A	.	.	AC=68;AF=0.1042;aachange=A239T;homoplasmy=+;heteroplasmy=-;PubmedIDs=31817256;Disease=Possible-LHON-helper-mutation;DiseaseStatus=Reported
MT	9952	.	G	A	.	.	AC=0;AF=0.0000;aachange=W249Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=9634511;Disease=Mitochondrial-Encephalopathy;DiseaseStatus=Cfrm-[LP]
MT	9957	.	T	C	.	.	AC=50;AF=0.0766;aachange=F251L;homoplasmy=-;heteroplasmy=+;PubmedIDs=7496173+10065021+15823923+18587274+21249588+15282179+29976239+32652755;Disease=PEM-/-MELAS-/-NAION-/-HCM-/-gout;DiseaseStatus=Reported
MT	9966	.	G	A	.	.	AC=427;AF=0.6540;aachange=V254I;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=15896721;Disease=LHON-possible-helper-variant;DiseaseStatus=Reported
MT	9972	.	A	C	.	.	AC=2;AF=0.0031;aachange=I256L;homoplasmy=-;heteroplasmy=+;PubmedIDs=19460300;Disease=EXIT-&-APS2---possible-link;DiseaseStatus=Reported
MT	9984	.	G	A	.	.	AC=0;AF=0.0000;aachange=G260Term;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=17403843+32652755;Disease=Suspected-mito-disease;DiseaseStatus=Reported
MT	9997	.	T	A,C	.	.	AC=0,1;AF=0.0000,0.0015;homoplasmy=nr,-;heteroplasmy=nr,+;PubmedIDs=31965079,8079988+10090480+29253894+15477393+20064630;Disease=Unspecified-patient-from-clinical-lab,MHCM;DiseaseStatus=Reported-[VUS],Reported-[VUS]
MT	9998	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;Disease=Suspected-mitochondrial-disease;DiseaseStatus=Reported
MT	10000	.	G	A	.	.	AC=2;AF=0.0031;homoplasmy=-;heteroplasmy=+;PubmedIDs=35432167;Disease=Multisystem-mitochondrial-disorder;DiseaseStatus=Reported
MT	10003	.	T	C	.	.	AC=12;AF=0.0184;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+27544295+26134044+32169613+25615420;Disease=Hypertension-/-maternally-inherited-diabetes-/-hearing-loss;DiseaseStatus=Reported
MT	10005	.	A	G	.	.	AC=23;AF=0.0352;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079+24470521+32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	10006	.	A	G	.	.	AC=18;AF=0.0276;homoplasmy=+;heteroplasmy=-;PubmedIDs=1709275+8129854+11335700+31965079+15477393;Disease=CIPO-/-Encephalopathy;DiseaseStatus=Unclear
MT	10010	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9199564+17886296+23847141+25652200+16120360+11971101+15477393+10611123+20064630+26469001+32948797;Disease=PEM;DiseaseStatus=Cfrm-[VUS*]
MT	10014	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=11335700+31965079;Disease=Myopathy;DiseaseStatus=Unclear
MT	10019	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	10044	.	A	G	.	.	AC=192;AF=0.2941;homoplasmy=-;heteroplasmy=+;PubmedIDs=8888049+12160969+16947981+16773565+29253894+31965079+15477393+10598821+15466077;Disease=SIDS;DiseaseStatus=Unclear
MT	10055	.	A	G	.	.	AC=12;AF=0.0184;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079+23463613+33289513+32169613;Disease=Tic-disorder-patient-/-hearing-loss-patient;DiseaseStatus=Reported
MT	10057	.	T	C	.	.	AC=6;AF=0.0092;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	10086	.	A	G	.	.	AC=516;AF=0.7904;aachange=N10D;homoplasmy=+;heteroplasmy=-;PubmedIDs=23563965+11532685+27217714+29987491;Disease=Hypertensive-end-stage-renal-disease;DiseaseStatus=Reported
MT	10134	.	C	A	.	.	AC=0;AF=0.0000;aachange=Q26K;homoplasmy=-;heteroplasmy=+;PubmedIDs=25118196;Disease=Leigh-Disease;DiseaseStatus=Reported-[VUS]
MT	10142	.	C	T	.	.	AC=733;AF=1.1228;aachange=N28N;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=28696810;Disease=Recurrent-pregnancy-loss;DiseaseStatus=Reported;HGFL=M23:222/95.28|U7:485/99.39
MT	10158	.	T	C	.	.	AC=0;AF=0.0000;aachange=S34P;homoplasmy=+;heteroplasmy=+;PubmedIDs=22115768+14764913+14684687+14705112+15972314+17152068+18402672+15576045+15372108+18977334+20064630+20972245+21457906+24642831+21364701+28050007+28883258+30095618+29237403+27742419+27914863+28522224+28916229+29054334+29500099+29987491+30128709+31996177+32371897+32504279+28429146+26741492+34732400+37038312+35094435+41623499;Disease=Leigh-Disease-/-MELAS-/-mito-encephalomyopathy;DiseaseStatus=Cfrm-[P]
MT	10189	.	T	C	.	.	AC=1;AF=0.0015;aachange=M44T;homoplasmy=-;heteroplasmy=+;PubmedIDs=30831263;Disease=Behavior-alteration-with-dilated-cardiomyopathy;DiseaseStatus=Reported
MT	10191	.	T	C	.	.	AC=0;AF=0.0000;aachange=S45P;homoplasmy=-;heteroplasmy=+;PubmedIDs=11456298+17535832+23847141+34969639+14684687+14705112+15972314+17152068+17413873+18402672+15576045+18977334+19617458+20064630+20226758+20972245+21457906+16044424+24642831+21364701+21850008+27450679+16023078+30095618+29987491+30128709+30461153+31261379+28429146+26741492+35715829+37196589+37038312+38437941+35094435;Disease=Leigh-Disease-/-ESOC;DiseaseStatus=Cfrm-[P]
MT	10197	.	G	A,C	.	.	AC=3,0;AF=0.0046,0.0000;aachange=A47T,A47P;homoplasmy=+,-;heteroplasmy=+,+;PubmedIDs=11130070+12509511+19458970+29253894+17152068+17413873+15372108+18800376+18977334+20064630+20972245+21978175+21364701+30095618+30899856+30128709+30461153+30978515+30978516+30199507+32045392+28429146+35715829+37038312+38465286+39923090+35907985+35094435+41839886,38437941;Disease=Leigh-Disease-/-Dystonia-/-Stroke-/-LDYT,Leigh-Disease;DiseaseStatus=Cfrm-[P],Reported
MT	10237	.	T	C	.	.	AC=105;AF=0.1608;aachange=I60T;homoplasmy=+;heteroplasmy=-;PubmedIDs=12227465+20301353+29987491+35773337;Disease=LHON;DiseaseStatus=Reported
MT	10254	.	G	A	.	.	AC=0;AF=0.0000;aachange=D66N;homoplasmy=-;heteroplasmy=+;PubmedIDs=20202874;Disease=Leigh-Disease;DiseaseStatus=Cfrm-[LP]
MT	10350	.	C	A	.	.	AC=0;AF=0.0000;aachange=L98M;homoplasmy=+;heteroplasmy=-;PubmedIDs=34177762;Disease=LHON;DiseaseStatus=Reported
MT	10372	.	A	G	.	.	AC=0;AF=0.0000;aachange=E105G;homoplasmy=-;heteroplasmy=+;PubmedIDs=33732874;Disease=Sensorimotor-axonal-polyneuropathy;DiseaseStatus=Reported
MT	10398	.	A	A,G	.	.	AC=37107,28146;AF=56.8376,43.1118;aachange=T114T,T114A;homoplasmy=+,+;heteroplasmy=-,-;PubmedIDs=16140977+16892079+16895436+17081685+25199876+26782384+29997041+30369864+34045735+14604458+15234467+17701054+17288645+18262047+15211636+18177933+17066297+17390150+16452251+27217714+19763141,12618962+15827561+15786469+16140977+15483642+16895436+15975594+17510395+18679013+23111160+25199876+28648514+17620498+34045735+12670626+17701054+17288645+18262047+18286226+18226984+18177933+20067846+19390621+15488317+17627010+17886251+20043118+18709563+21457906+17174475+27217714+28793231+29987491+31797714+24917144+31358833+34120353+35146807;Disease=Invasive-Breast-Cancer-risk-factor-AD-PD-BD-lithium-response-Type-2-DM,PD-protective-factor-/-longevity-/-altered-cell-pH-/-metabolic-syndrome-/-breast-cancer-risk-/-Leigh-Syndrome-risk-/-ADHD-/-cognitive-decline-/-SCA2-age-of-onset-/-Fuchs-endothelial-corneal-dystrophy;DiseaseStatus=Reported|-lineage-N-marker-except-hg-IJK,Reported|-lineage-L-&-M-marker+-also-hg-IJK;HGFL=.,B5:851/99.77|C1:951/99.79|C4:791/99.75|C5:218/100.00|C7:216/100.00|D1:518/99.42|D2:99/100.00|D3:45/100.00|D4:1734/99.26|D5:432/99.08|D6:34/100.00|E1:402/99.75|E2:93/100.00|G1:207/100.00|G2:360/100.00|G3:62/100.00|I1:329/99.40|I2:239/100.00|I3:80/100.00|I4:151/100.00|I5:112/99.12|J1:2223/96.57|J2:830/99.88|K1:1906/99.17|L0:1673/96.37|L1:932/91.64|L2:1674/99.70|L3:2435/94.93|L4:132/99.25|L5:56/100.00|L6:14/100.00|M1:311/99.68|M10:78/100.00|M11:42/97.67|M12:145/100.00|M13:77/100.00|M17:67/100.00|M18:33/97.06|M2:254/98.45|M20:82/100.00|M21:134/100.00|M22:13/100.00|M23:233/100.00|M24:63/100.00|M26:11/100.00|M27:157/99.37|M28:129/100.00|M29:25/100.00|M3:220/99.55|M30:156/98.73|M31:30/100.00|M32:166/100.00|M33:93/100.00|M34:11/100.00|M35:115/100.00|M36:40/100.00|M37:39/100.00|M38:28/100.00|M39:45/100.00|M4:36/100.00|M40:31/100.00|M41:12/100.00|M42:75/100.00|M44:12/100.00|M45:31/100.00|M46:16/100.00|M49:42/100.00|M5:249/100.00|M50:33/100.00|M51:75/100.00|M52:54/100.00|M53:27/100.00|M54:11/100.00|M55:10/71.43|M57:17/100.00|M6:42/100.00|M60:14/100.00|M61:26/100.00|M62:27/100.00|M65:56/100.00|M66:14/100.00|M68:35/100.00|M69:15/100.00|M7:1634/99.69|M70:13/100.00|M71:115/100.00|M72:22/100.00|M73:55/100.00|M74:134/98.53|M76:35/100.00|M8:110/99.10|M9:358/100.00|M91:25/100.00|N8:21/100.00|P4:85/100.00|Q1:678/99.71|Q2:72/100.00|Q3:88/100.00|R11:35/55.56|R21:19/100.00|Y1:150/100.00|Y2:63/100.00|Z1:114/100.00|Z3:126/100.00|Z4:40/100.00
MT	10406	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=21263444+31965079+17588757;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported-[VUS]
MT	10408	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079;Disease=Unspecified-patient-from-clinical-lab;DiseaseStatus=Reported-[VUS]
MT	10410	.	T	C	.	.	AC=292;AF=0.4473;homoplasmy=+;heteroplasmy=-;PubmedIDs=33625761;Disease=Possible-maternally-inherited-hypertension-risk-factor;DiseaseStatus=Reported
MT	10411	.	A	T	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=9344764;Disease=Dilated-Cardiomyopathy;DiseaseStatus=Reported
MT	10415	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=9344764;Disease=Dilated-Cardiomyopathy;DiseaseStatus=Reported
MT	10437	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=22781096;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported
MT	10438	.	A	G,T	.	.	AC=0,0;AF=0.0000,0.0000;homoplasmy=-,-;heteroplasmy=+,+;PubmedIDs=15286228,30430429;Disease=Progressive-Encephalopathy,Non-dystrophic-myopathy;DiseaseStatus=Reported-[VUS],Reported
MT	10450	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=19809478;Disease=Combined-OXPHOS-defects-&-severe-multisystem-disorder;DiseaseStatus=Reported-[VUS]
MT	10454	.	T	C	.	.	AC=245;AF=0.3753;homoplasmy=+;heteroplasmy=-;PubmedIDs=27498855+31965079+16955413+19818876+22538251+33625761;Disease=Possible-deafness-or-maternally-inherited-hypertension-risk-factor;DiseaseStatus=Reported
MT	10460	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079;Disease=Unspecified-patient-from-clinical-lab;DiseaseStatus=Reported-[VUS]
MT	10543	.	A	G	.	.	AC=0;AF=0.0000;aachange=H25R;homoplasmy=-;heteroplasmy=+;PubmedIDs=17003408;Disease=LHON;DiseaseStatus=Reported
MT	10591	.	T	G	.	.	AC=0;AF=0.0000;aachange=F41C;homoplasmy=-;heteroplasmy=+;PubmedIDs=17003408;Disease=LHON;DiseaseStatus=Reported
MT	10609	.	T	C	.	.	AC=1549;AF=2.3726;aachange=M47T;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=24568867+33402819;Disease=Type-2-diabetes-patients-with-underlying-3243G-/-LHON-patient-with-10663C;DiseaseStatus=Reported;HGFL=F1:1436/98.83|R22:61/100.00
MT	10652	.	T	C	.	.	AC=57;AF=0.0873;aachange=I61I;homoplasmy=-;heteroplasmy=+;PubmedIDs=19290059;Disease=BD-/-MDD-associated;DiseaseStatus=Reported
MT	10663	.	T	C	.	.	AC=2;AF=0.0031;aachange=V65A;homoplasmy=+;heteroplasmy=-;PubmedIDs=8680405+11935318+16523671+22879922+24568867+20301353+29253894+28991104+15972314+17003408+18402672+21457906+29210930+29987491+31817256+35778412+36381806;Disease=LHON;DiseaseStatus=Cfrm-[LP]
MT	10676	.	C	G	.	.	AC=1;AF=0.0015;aachange=C69W;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33402819;Disease=Type-2-cataract-patients-with-underlying-3243G;DiseaseStatus=Reported
MT	10680	.	G	A	.	.	AC=18;AF=0.0276;aachange=A71T;homoplasmy=+;heteroplasmy=-;PubmedIDs=29444077+19394449+20643099+29987491+22400981+40969215;Disease=LHON-/-synergistic-combo-10680A-+-12033G-+-14258A;DiseaseStatus=Reported-/-possibly-synergistic
MT	11042	.	T	C	.	.	AC=0;AF=0.0000;aachange=Y95H;homoplasmy=-;heteroplasmy=+;PubmedIDs=29343773;Disease=Biliary-atresia;DiseaseStatus=Reported
MT	11047	.	CT	C	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=29343773;Disease=Biliary-atresia;DiseaseStatus=Reported
MT	11084	.	A	G	.	.	AC=229;AF=0.3508;aachange=T109A;homoplasmy=+;heteroplasmy=+;PubmedIDs=1323207+8213827+23563965+15972314+21457906+18468491+29987491;Disease=AD+-PD-MELAS;DiseaseStatus=Conflicting-reports
MT	11150	.	G	A	.	.	AC=165;AF=0.2527;aachange=A131T;homoplasmy=+;heteroplasmy=-;PubmedIDs=31798871;Disease=Found-in-a-Multiple-Sclerosis-patient;DiseaseStatus=Reported
MT	11232	.	T	C	.	.	AC=0;AF=0.0000;aachange=L158P;homoplasmy=-;heteroplasmy=+;PubmedIDs=41705724+14581685+15972314+29987491+32652755;Disease=CPEO;DiseaseStatus=Reported
MT	11240	.	C	T	.	.	AC=0;AF=0.0000;aachange=L161F;homoplasmy=-;heteroplasmy=+;PubmedIDs=27761019+29987491;Disease=Leigh-Syndrome;DiseaseStatus=Reported
MT	11251	.	A	G	.	.	AC=6199;AF=9.4951;aachange=L164L;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=23645593+30369864+34060999;Disease=Reduced-risk-of-PD;DiseaseStatus=Reported;HGFL=J1:2289/99.44|J2:830/99.88|T1:855/99.65|T2:2206/99.68
MT	11253	.	T	C	.	.	AC=336;AF=0.5147;aachange=I165T;homoplasmy=+;heteroplasmy=-;PubmedIDs=12150954+12271374+20301353+29253894+10737123+29987491+36827238+33652663;Disease=LHON-PD;DiseaseStatus=Reported
MT	11365	.	T	C	.	.	AC=143;AF=0.2190;aachange=A202A;homoplasmy=+;heteroplasmy=-;PubmedIDs=16266762;Disease=found-in-HCM-patient;DiseaseStatus=Reported;HGFL=M69:15/100.00|N22:24/100.00
MT	11375	.	A	C	.	.	AC=0;AF=0.0000;aachange=K206Q;homoplasmy=+;heteroplasmy=-;PubmedIDs=24667788;Disease=found-in-sCJD-patient;DiseaseStatus=Reported
MT	11406	.	T	A	.	.	AC=0;AF=0.0000;aachange=L216H;homoplasmy=-;heteroplasmy=+;PubmedIDs=32659360;Disease=MELAS;DiseaseStatus=Reported
MT	11467	.	A	G	.	.	AC=8158;AF=12.4958;aachange=L236L;homoplasmy=+;heteroplasmy=-;PubmedIDs=19290059+24667788+31743754+34060999;Disease=Altered-brain-pH-/-sCJD-patients;DiseaseStatus=Reported-[B];HGFL=K1:1910/99.38|K2:377/99.74|U1:226/98.26|U2:582/99.32|U3:436/99.54|U4:770/99.10|U5:2541/99.73|U6:600/99.83|U7:487/99.80|U8:175/100.00|U9:24/100.00
MT	11470	.	A	C	.	.	AC=0;AF=0.0000;aachange=K237N;homoplasmy=-;heteroplasmy=+;PubmedIDs=21850008;Disease=MELAS;DiseaseStatus=Reported
MT	11519	.	A	C	.	.	AC=0;AF=0.0000;aachange=T254P;homoplasmy=+;heteroplasmy=-;PubmedIDs=31798871;Disease=ND4-mutation-set-found-in-a-Multiple-Sclerosis-patient;DiseaseStatus=Reported
MT	11523	.	A	C	.	.	AC=0;AF=0.0000;aachange=K255T;homoplasmy=+;heteroplasmy=-;PubmedIDs=31798871;Disease=ND4-mutation-set-found-in-a-Multiple-Sclerosis-patient;DiseaseStatus=Reported
MT	11527	.	C	T	.	.	AC=25;AF=0.0383;aachange=H256H;homoplasmy=+;heteroplasmy=-;PubmedIDs=31798871;Disease=ND4-mutation-set-found-in-a-Multiple-Sclerosis-patient;DiseaseStatus=Reported
MT	11620	.	ATA	A	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=23463613+32652755;Disease=CPEO+-exercise-intolerance;DiseaseStatus=Reported-[VUS]
MT	11696	.	G	A	.	.	AC=374;AF=0.5729;aachange=V313I;homoplasmy=+;heteroplasmy=+;PubmedIDs=8644732+27159682+20301353+29253894+16364244+15972314+17300996+19818876+17123466+17922426+21482521+21457906+17723226+29987491+29387390+35104579;Disease=LHON-/-LDYT-/-DEAF-/-hypertension-helper-mut.;DiseaseStatus=Reported-/-possibly-synergistic
MT	11777	.	C	A	.	.	AC=0;AF=0.0000;aachange=R340S;homoplasmy=-;heteroplasmy=+;PubmedIDs=29428506+16120329+12707444+15972314+18402672+15576045+18977334+20064630+20502985+21457906+24642831+30095618+37038312;Disease=Leigh-Disease;DiseaseStatus=Cfrm-[LP]
MT	11778	.	G	A	.	.	AC=191;AF=0.2926;aachange=R340H;homoplasmy=+;heteroplasmy=+;PubmedIDs=2390098+8680405+1937476+8448903+1866007+8240101+8457609+8255489+1895564+2575667+2817063+1734726+8023847+8118464+7901141+2286378+1770665+8320863+2222273+1900003+8213820+1444915+8240103+8270249+8024249+8023848+1763894+2346190+1959619+8250088+8103501+1353825+8474822+1635296+8449667+8489411+2039048+8053461+2346203+7916404+8101084+8401538+8071952+1575231+8071960+1770533+2566116+8240102+8195807+1977373+1532593+1352537+2757028+3201231+8489402+2566021+1346348+7617199+7926004+7707093+7853025+7770132+7611298+7635294+7603534+7924787+7821467+7832241+7601652+7649539+7823072+8165962+7710535+7629530+7617193+7977345+7639060+7735876+7760326+7814218+7599218+7801223+7763260+7612556+9012411+8659512+10976107+9125387+9302261+9541428+9412783+9685604+9561832+9541429+9150158+8662757+10413253+4003041+10520236+8755941+10426138+11169561+11754070+10939569+11741983+10611124+12402249+12402246+12436196+12560876+11074292+12446713+12464729+12379308+16083845+9175737+15033723+16431939+16532388+16380918+17886296+18216301+18674747+18771762+11339587+20728388+17197509+20471050+21253496+11001192+17573650+17296905+19710181+19525327+19936068+20837795+20435583+15883259+21414825+21788663+21810891+20628600+20625049+16083844+18235013+20491810+22039503+22110754+22194643+15342361+20019878+22410442+21859767+15629832+15629831+22523243+21887510+23297368+7745422+24369379+23847141+25192510+25053773+26438859+26647310+25338955+25342621+24457989+24525545+27127184+26410888+27159682+27426279+20301353+22669418+26959136+27847334+28040497+28233183+28481993+28093355+26404827+29253894+27071925+12807863+30081212+29428506+28991104+28994349+30369864+31727544+26892229+32516135+32969847+34168607+34146515+33298565+34969639+37587338+37878684+37217751+39699886+14750573+12711217+15026512+14671420+15126312+15060117+12409182+14620678+14748908+16120371+15707996+11523562+8931573+15896721+16050984+8941270+15972314+16617593+16624503+16528519+17003408+17366829+17460303+17479363+17724295+8556281+12464728+17072496+18363168+18214789+18320530+15804271+11331900+12185132+15548492+10636656+11162998+16120433+18070226+18676632+19026397+15282189+16829155+17406640+16972023+15838728+15728653+18647627+16120317+10545708+17300996+16564802+18619472+19370763+19319978+10216058+12888043+11124301+17942074+18775412+20064630+20123042+8600429+8867076+19268652+20599858+20211598+20676915+20454697+20943885+21067478+20809775+20232220+19726426+17292333+19098324+16148621+11754915+19255150+16705513+18806273+20691156+16477364+20407791+19800080+19247386+21063443+21482521+15720387+20111055+18848389+21457906+12815198+16044424+17204919+21694444+21397051+20632027+15282179+22108605+24404670+26605371+27746671+27177320+29049835+27787713+29116953+29047345+27721048+26606867+28219504+29890302+29983856+25909222+29587845+30558558+29427840+28392196+30572950+31040363+29133642+30304398+30936345+30516647+29955763+30831606+19015050+27427386+30597069+21145289+29387390+28640805+11579587+31226990+31817256+28650878+29189152+27119776+31718067+29980632+31584786+28768321+30968497+32740724+31932089+32723871+31776719+32704028+27749593+33552719+33706792+28314831+29554000+17122117+12518276+33185792+33709232+32991883+33159657+32991388+32096343+32220313+32277753+33584522+32887465+16331570+33911213+34108929+33451738+32284191+29649796+11853713+32504279+32259370+31896800+34573281+34467602+34122299+34310464+34584057+34415266+34417770+32105823+28716668+28647203+33477675+11937918+29454364+10087740+27631475+34667002+34673906+34915201+35190400+35104579+34670133+8742999+35723074+12638016+24508359+33095398+35623556+35858578+35791239+35690699+36361994+36358916+36565700+36565701+35778412+36350566+36827238+37038312+23091534+37737178+31939618+37988592+38346855+38768545+38710404+23920046+34060999+37628761+29346803+29346802+40969215;Disease=LHON-/-Progressive-Dystonia;DiseaseStatus=Cfrm-[P]
MT	11832	.	G	A	.	.	AC=0;AF=0.0000;aachange=W358Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=10360780+15972314+18402672+11506394+11782982+20028790;Disease=EXIT-/-oncocytoma;DiseaseStatus=Reported
MT	11874	.	C	A	.	.	AC=0;AF=0.0000;aachange=T372N;homoplasmy=+;heteroplasmy=-;PubmedIDs=17003408+29987491;Disease=LHON;DiseaseStatus=Reported
MT	11914	.	G	A	.	.	AC=6784;AF=10.3912;aachange=T385T;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31824475;Disease=Possible-susceptibility-to-bullous-pemphigoid;DiseaseStatus=Reported;HGFL=B6:70/100.00|C1:953/100.00|C4:791/99.75|C5:218/100.00|C7:215/99.54|L0:1732/99.77|L2:1267/75.46|M20:82/100.00
MT	11919	.	C	T	.	.	AC=1;AF=0.0015;aachange=S387F;homoplasmy=+;heteroplasmy=-;PubmedIDs=15608681+29987491;Disease=Thyroid-Cancer-Cell-Line;DiseaseStatus=Reported
MT	11984	.	T	C	.	.	AC=65;AF=0.0996;aachange=Y409H;homoplasmy=+;heteroplasmy=-;PubmedIDs=19043581+17022785;Disease=Leigh-Syndrome;DiseaseStatus=Reported
MT	11994	.	C	T	.	.	AC=0;AF=0.0000;aachange=T412I;homoplasmy=+;heteroplasmy=-;PubmedIDs=17517394+17069814+29987491;Disease=Oligoasthenoteratozoospermia-(OAT);DiseaseStatus=Conflicting-reports
MT	12015	.	T	C	.	.	AC=3;AF=0.0046;aachange=L419P;homoplasmy=-;heteroplasmy=+;PubmedIDs=30949164+31293567;Disease=Atypical-MELAS;DiseaseStatus=Reported
MT	12026	.	A	G	.	.	AC=279;AF=0.4274;aachange=I423V;homoplasmy=+;heteroplasmy=-;PubmedIDs=9519725+15972314+29987491+19199242;Disease=DM;DiseaseStatus=Reported;HGFL=D5:235/53.90
MT	12027	.	T	C	.	.	AC=2;AF=0.0031;aachange=I423T;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=19290059+14623372;Disease=SZ-associated;DiseaseStatus=Reported
MT	12033	.	A	G	.	.	AC=23;AF=0.0352;aachange=N425S;homoplasmy=+;heteroplasmy=-;PubmedIDs=29444077;Disease=LHON-synergistic-combo-10680A-+-12033G-+-14258A;DiseaseStatus=Reported:-individually-neutral-variants-causing-LHON-in-combination
MT	12063	.	C	T	.	.	AC=45;AF=0.0689;aachange=T435I;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=28696810;Disease=Recurrent-pregnancy-loss;DiseaseStatus=Reported;HGFL=P5:28/90.32
MT	12141	.	A	G	.	.	AC=9;AF=0.0138;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33289513;Disease=Reported-in-tic-disorder-patient;DiseaseStatus=Reported
MT	12146	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=+;PubmedIDs=21704194;Disease=MELAS;DiseaseStatus=Reported
MT	12147	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=16483543+31965079+14967777+15111688+20064630+19718780;Disease=MERRF-MELAS-/-Encephalopathy;DiseaseStatus=Cfrm-[LP]
MT	12148	.	T	C	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+23463613+37961166;Disease=Developmental-delay+-optic-atrophy+-cataract+-hearing-loss+-myopathy;DiseaseStatus=Reported-[VUS]
MT	12158	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=35092007+24931247;Disease=MELAS;DiseaseStatus=Reported
MT	12167	.	T	C	.	.	AC=2;AF=0.0031;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	12182	.	A	G	.	.	AC=2;AF=0.0031;homoplasmy=+;heteroplasmy=-;PubmedIDs=30831263;Disease=Sclerosis-like-symptoms-+-white-matter-alterations;DiseaseStatus=Author-considered-as-VUS
MT	12183	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=12682337+29253894+19718780;Disease=RP-+-DEAF;DiseaseStatus=Reported-[VUS]
MT	12187	.	C	A	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=24931671;Disease=Asthenozoospermia;DiseaseStatus=Reported
MT	12188	.	T	C	.	.	AC=42;AF=0.0643;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079+16738010+32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	12192	.	G	A	.	.	AC=144;AF=0.2206;homoplasmy=+;heteroplasmy=-;PubmedIDs=10621222+12560876+31965079+30854964+33552719;Disease=MICM-/-possible-G15927A-deafness-modulator;DiseaseStatus=Reported;HGFL=H45:14/53.85
MT	12197	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=+;PubmedIDs=40241304;Disease=Congenital-sideroblastic-anemia-(CSA)-+SNHL-+motor-delay;DiseaseStatus=Reported
MT	12198	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=40241304;Disease=Congenital-sideroblastic-anemia-(CSA);DiseaseStatus=Reported
MT	12201	.	T	C	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+21931169+23463613+31819004+24920829+33064405+32169613+22538251+34991096;Disease=Maternally-inherited-non-syndromic-deafness;DiseaseStatus=Cfrm-[LP]
MT	12206	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23696415;Disease=MELAS-like-encephalopathy+bilateral-optic-atrophy;DiseaseStatus=Reported
MT	12207	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=12406974+16950817+27450679+36967720;Disease=Myopathy-/-Encephalopathy;DiseaseStatus=Reported-[VUS]
MT	12224	.	C	T	.	.	AC=4;AF=0.0061;homoplasmy=+;heteroplasmy=-;PubmedIDs=19818876+22538251;Disease=DEAF-helper-mutation;DiseaseStatus=Reported
MT	12235	.	T	C	.	.	AC=231;AF=0.3538;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079+32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	12236	.	G	A	.	.	AC=494;AF=0.7567;homoplasmy=+;heteroplasmy=-;PubmedIDs=23563965+23847141+31965079+17637808+22241583+36563715;Disease=DEAF-/-PCOS-patient;DiseaseStatus=Reported;HGFL=L5:38/67.86|M51:54/72.00
MT	12244	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31123110+41692888;Disease=MELAS;DiseaseStatus=Reported
MT	12246	.	C	A	.	.	AC=4;AF=0.0061;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=1709275+8129854;Disease=CIPO;DiseaseStatus=Reported
MT	12258	.	C	A,T	.	.	AC=1,0;AF=0.0015,0.0000;homoplasmy=-,nr;heteroplasmy=+,nr;PubmedIDs=9792552+10090882+11938495+15983868+25652200+29253894+15126302+17653689+19718780,31965079;Disease=DMDF-/-RP+SNHL,Unspecified-patient-from-clinical-lab;DiseaseStatus=Cfrm-[LP],Reported-[VUS]
MT	12261	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=22378285;Disease=Myopathy+epilepsy+retinal-degeneration+DEAF;DiseaseStatus=Reported
MT	12262	.	C	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=21257182+32504279;Disease=Progressive-MM+Deafness+Seizures;DiseaseStatus=Reported
MT	12264	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=+;PubmedIDs=22369973+31965079+22378285+23920046;Disease=Multisystem-Disease-with-Cataracts-/-Myopathy+epilepsy+DEAF+atypical-autism;DiseaseStatus=Reported-[VUS]
MT	12265	.	A	G	.	.	AC=2;AF=0.0031;homoplasmy=+;heteroplasmy=-;PubmedIDs=40519988;Disease=Dilated-cardiomyopathy;DiseaseStatus=Reported
MT	12271	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=nr;heteroplasmy=nr;Disease=Unspecified-mitochondrial-disease;DiseaseStatus=Reported-[VUS]
MT	12276	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=23847141+31965079+15591266+15649400;Disease=CPEO;DiseaseStatus=Cfrm-[LP]
MT	12278	.	T	C	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+38397113+30671084;Disease=MODY-diabetes-mellitus;DiseaseStatus=Reported
MT	12279	.	A	G	.	.	AC=262;AF=0.4013;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33289513;Disease=Reported-in-tic-disorder-patient;DiseaseStatus=Reported;HGFL=M23:233/100.00
MT	12280	.	A	G	.	.	AC=107;AF=0.1639;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+30783460;Disease=Hypertension;DiseaseStatus=Reported
MT	12283	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=25652200+19853445;Disease=CPEO;DiseaseStatus=Reported-[VUS]
MT	12293	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+25223649+32419253;Disease=Axial-mitochondrial-myopathy-/-EXIT+myalgia+ptosis;DiseaseStatus=Reported
MT	12294	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=14581685+29052516;Disease=CPEO-/-EXIT+Ophthalmoplegia;DiseaseStatus=Cfrm-[VUS*]
MT	12297	.	T	C	.	.	AC=50;AF=0.0766;homoplasmy=+;heteroplasmy=+;PubmedIDs=21882289+31965079+11313776+20064630+19062322+10602359;Disease=Dilated-Cardiomyopathy-/-Leigh-Syndrome-/-Failure-to-Thrive-&-LA;DiseaseStatus=Reported
MT	12299	.	A	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=17092464;Disease=MELAS;DiseaseStatus=Reported
MT	12300	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9537417+9817933+10628996+15328906+32970680+22538251+16446307;Disease=3243-suppressor-mutant;DiseaseStatus=Reported
MT	12308	.	A	G	.	.	AC=8143;AF=12.4728;homoplasmy=+;heteroplasmy=+;PubmedIDs=8155739+1709275+1757091+8079988+8254046+1910259+1542564+9384601+11145497+11406419+16947981+16773565+16406974+19290059+18502698+24667788+31965079+14571278+11313776+18709563;Disease=CPEO-/-Stroke-/-CM-/-Breast-&-Renal-&-Prostate-Cancer-Risk-/-Altered-brain-pH-/sCJD;DiseaseStatus=Reported-[B]-in-hg-K+U;HGFL=K1:1915/99.64|K2:377/99.74|U1:228/99.13|U2:576/98.29|U3:435/99.32|U4:773/99.49|U5:2533/99.41|U6:598/99.50|U7:486/99.59|U8:170/97.14|U9:24/100.00
MT	12311	.	T	C	.	.	AC=78;AF=0.1195;homoplasmy=+;heteroplasmy=+;PubmedIDs=7525879+7804130+16947981+31965079;Disease=CPEO;DiseaseStatus=Reported
MT	12313	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=18343111;Disease=FSHD;DiseaseStatus=Reported
MT	12315	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9361028+8923013+10332036+31965079+12398839+18977334+20064630+19718780+28951770+23631826+29670672+23395464+23874496+25834827+31540444;Disease=CPEO-/-KSS-/-possible-carotid-atherosclerosis-risk+-trend-toward-myocardial-infarction-risk;DiseaseStatus=Cfrm-[LP]
MT	12316	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23847141+18603265+20163808;Disease=CPEO-/-mitochondrial-myopathy;DiseaseStatus=Cfrm-[VUS*]
MT	12317	.	T	C	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=23696415;Disease=CPEO+ptosis+myopathy+exercise-intolerance+diabetes;DiseaseStatus=Reported
MT	12320	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=9012410+9207784+17886296+25652200+10611123+19718780+23631826;Disease=MM;DiseaseStatus=Reported-[VUS]
MT	12324	.	CC	C	.	.	AC=0;AF=0.0000;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported-[VUS]
MT	12334	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=32310184;Disease=CPEO;DiseaseStatus=Reported
MT	12335	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31965079;Disease=Unspecified-patient-from-clinical-lab;DiseaseStatus=Reported
MT	12338	.	T	C	.	.	AC=227;AF=0.3477;aachange=M1T;homoplasmy=+;heteroplasmy=-;PubmedIDs=21131053+29579248+15278763+18386806+19818876+21482521+21724059+21419139+29987491+29387390+34993838;Disease=DEAF1555-increased-penetrance-/-LHON-/-MIDD;DiseaseStatus=Conflicting-reports;HGFL=F2:200/100.00
MT	12350	.	C	A	.	.	AC=0;AF=0.0000;aachange=T5N;homoplasmy=-;heteroplasmy=+;PubmedIDs=27155156;Disease=SNHL-+-neurodevelopmental-delay;DiseaseStatus=Reported
MT	12361	.	A	G	.	.	AC=435;AF=0.6663;aachange=T9A;homoplasmy=+;heteroplasmy=-;PubmedIDs=22153811+29987491;Disease=Non-alcoholic-fatty-liver-disease;DiseaseStatus=Reported;HGFL=G1:117/56.52|M76:25/71.43
MT	12372	.	G	A	.	.	AC=8803;AF=13.4837;aachange=L12L;homoplasmy=+;heteroplasmy=-;PubmedIDs=19290059+24667788+36127429;Disease=Altered-brain-pH-/-sCJD-patients|-AD-risk-in-certain-haplogroups;DiseaseStatus=Reported-[B];HGFL=K1:1915/99.64|K2:377/99.74|M12:145/100.00|N9:343/86.18|U1:227/98.70|U2:583/99.49|U3:435/99.32|U4:773/99.49|U5:2538/99.61|U6:600/99.83|U7:486/99.59|U8:174/99.43|U9:24/100.00
MT	12397	.	A	G	.	.	AC=394;AF=0.6035;aachange=T21A;homoplasmy=+;heteroplasmy=-;PubmedIDs=21457906+18524835+29987491;Disease=PD+-early-onset;DiseaseStatus=Reported;HGFL=H79:16/100.00
MT	12413	.	CT	C	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=23847141;Disease=EXIT;DiseaseStatus=Reported
MT	12424	.	AA	A	.	.	AC=2;AF=0.0031;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=20018511;Disease=Mitochondrial-myopathy-&-renal-failure;DiseaseStatus=Cfrm-[LP]
MT	12477	.	T	C	.	.	AC=359;AF=0.5499;aachange=S47S;homoplasmy=+;heteroplasmy=-;PubmedIDs=16266762+36563715;Disease=Possible-HCM-susceptibility-/-PCOS-patients;DiseaseStatus=Reported;HGFL=H73:8/66.67|M5:181/72.69
MT	12622	.	G	A	.	.	AC=10;AF=0.0153;aachange=V96I;homoplasmy=+;heteroplasmy=+;PubmedIDs=17400793+29987491+32652755;Disease=Leigh-Disease;DiseaseStatus=Conflicting-reports
MT	12631	.	T	A	.	.	AC=0;AF=0.0000;aachange=S99T;homoplasmy=+;heteroplasmy=-;PubmedIDs=24667788+23735083;Disease=found-in-2-sCJD-patients;DiseaseStatus=Reported
MT	12634	.	A	G	.	.	AC=248;AF=0.3799;aachange=I100V;homoplasmy=+;heteroplasmy=+;PubmedIDs=27498855+15608681+29987491;Disease=Thyroid-Cancer-Cell-Line;DiseaseStatus=Reported
MT	12662	.	A	G	.	.	AC=86;AF=0.1317;aachange=N109S;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=28696810;Disease=Recurrent-pregnancy-loss;DiseaseStatus=Reported
MT	12686	.	T	A	.	.	AC=0;AF=0.0000;aachange=F117Y;homoplasmy=+;heteroplasmy=-;PubmedIDs=9344764;Disease=Dilated-Cardiomyopathy;DiseaseStatus=Reported
MT	12705	.	C	T	.	.	AC=26330;AF=40.3302;aachange=I123I;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=30312593;Disease=Possible-protective-factor-for-normal-tension-glaucoma;DiseaseStatus=Reported;HGFL=A1:15/100.00|A11:40/100.00|A12:13/100.00|A13:27/100.00|A14:38/100.00|A15:79/100.00|A17:48/100.00|A2:1194/99.42|A21:12/92.31|A5:119/100.00|A6:20/100.00|A8:27/96.43|C1:951/99.79|C4:775/97.73|C5:218/100.00|C7:216/100.00|D1:516/99.04|D2:99/100.00|D3:45/100.00|D4:1740/99.60|D5:435/99.77|D6:34/100.00|E1:403/100.00|E2:93/100.00|G1:207/100.00|G2:358/99.44|G3:62/100.00|I1:329/99.40|I2:238/99.58|I3:80/100.00|I4:150/99.34|I5:112/99.12|L0:1719/99.02|L1:1012/99.51|L2:1679/100.00|L3:2560/99.81|L4:132/99.25|L5:56/100.00|L6:14/100.00|M1:311/99.68|M10:78/100.00|M11:43/100.00|M12:145/100.00|M13:77/100.00|M17:67/100.00|M18:33/97.06|M2:239/92.64|M20:82/100.00|M21:134/100.00|M22:13/100.00|M23:232/99.57|M24:63/100.00|M26:11/100.00|M27:158/100.00|M28:129/100.00|M29:25/100.00|M3:220/99.55|M30:148/93.67|M31:30/100.00|M32:166/100.00|M33:92/98.92|M34:11/100.00|M35:115/100.00|M36:40/100.00|M37:39/100.00|M38:28/100.00|M39:45/100.00|M4:36/100.00|M40:30/96.77|M41:12/100.00|M42:74/98.67|M44:12/100.00|M45:31/100.00|M46:16/100.00|M49:42/100.00|M5:244/97.99|M50:32/96.97|M51:75/100.00|M52:49/90.74|M53:27/100.00|M54:11/100.00|M55:14/100.00|M57:17/100.00|M6:41/97.62|M60:14/100.00|M61:26/100.00|M62:26/96.30|M65:56/100.00|M66:14/100.00|M68:35/100.00|M69:15/100.00|M7:1636/99.82|M70:13/100.00|M71:114/99.13|M72:22/100.00|M73:55/100.00|M74:136/100.00|M76:35/100.00|M8:111/100.00|M9:358/100.00|M91:25/100.00|N1:375/99.21|N10:32/100.00|N11:22/100.00|N13:14/100.00|N2:11/100.00|N21:45/100.00|N22:24/100.00|N3:22/100.00|N7:15/100.00|N8:21/100.00|N9:397/99.75|Q1:679/99.85|Q2:72/100.00|Q3:88/100.00|S1:32/100.00|S2:24/100.00|W1:245/99.59|W3:156/99.36|W4:49/98.00|W5:70/100.00|W6:115/99.14|X1:20/100.00|X2:651/99.85|X3:22/100.00|Y1:150/100.00|Y2:63/100.00|Z1:114/100.00|Z3:126/100.00|Z4:40/100.00
MT	12706	.	T	C	.	.	AC=0;AF=0.0000;aachange=F124L;homoplasmy=-;heteroplasmy=+;PubmedIDs=23847141+14684687+11938446+15972314+18402672+20064630+21457906+17317336+21364701+30095618+31996177+32652755;Disease=Leigh-Disease;DiseaseStatus=Cfrm-[LP]
MT	12770	.	A	G	.	.	AC=1;AF=0.0015;aachange=E145G;homoplasmy=-;heteroplasmy=+;PubmedIDs=29253894+12509858+15972314+18332249+21457906;Disease=MELAS;DiseaseStatus=Reported-[VUS]
MT	12778	.	G	C	.	.	AC=0;AF=0.0000;aachange=G148R;homoplasmy=+;heteroplasmy=-;PubmedIDs=9344764;Disease=Dilated-Cardiomyopathy;DiseaseStatus=Reported
MT	12782	.	T	G	.	.	AC=0;AF=0.0000;aachange=I149S;homoplasmy=-;heteroplasmy=+;PubmedIDs=17003408;Disease=LHON;DiseaseStatus=Reported
MT	12811	.	T	C	.	.	AC=741;AF=1.1350;aachange=Y159H;homoplasmy=+;heteroplasmy=-;PubmedIDs=7901141+19022198+20301353+29253894+19026397+8600429+23304069+29987491+29387390+33493461;Disease=Possible-LHON-factor;DiseaseStatus=Reported-[B]
MT	12814	.	G	T	.	.	AC=3;AF=0.0046;aachange=A160S;homoplasmy=+;heteroplasmy=-;PubmedIDs=38741249;Disease=LHON;DiseaseStatus=Reported
MT	12848	.	C	T	.	.	AC=0;AF=0.0000;aachange=A171V;homoplasmy=-;heteroplasmy=+;PubmedIDs=16240359+20301353+21457906;Disease=LHON;DiseaseStatus=Reported-[VUS]
MT	12858	.	C	A	.	.	AC=0;AF=0.0000;aachange=Y174Term;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32652755;Disease=Unspecified-suspected-mitochondrial-disorder;DiseaseStatus=Reported
MT	12923	.	G	A	.	.	AC=0;AF=0.0000;aachange=W196Term;homoplasmy=nr;heteroplasmy=nr;Disease=LHON/MELAS/LS;DiseaseStatus=Reported
MT	12955	.	A	G	.	.	AC=0;AF=0.0000;aachange=N207D;homoplasmy=-;heteroplasmy=+;PubmedIDs=26014388;Disease=EXIT-and-developmental-delay;DiseaseStatus=Reported
MT	13042	.	G	A	.	.	AC=2;AF=0.0031;aachange=A236T;homoplasmy=-;heteroplasmy=+;PubmedIDs=29253894+15382008+16816025+18332249+15767514+17400793+21457906+31996177+35778412;Disease=Optic-neuropathy/-retinopathy/-LD;DiseaseStatus=Cfrm-[LP]
MT	13045	.	A	C,G	.	.	AC=1,0;AF=0.0015,0.0000;aachange=M237L,M237V;homoplasmy=-,-;heteroplasmy=+,+;PubmedIDs=12509858+15972314+18332249+21457906,31639449;Disease=MELAS-/-LHON-/-Leigh-overlap-syndrome,MELAS;DiseaseStatus=Reported-[VUS],Reported
MT	13046	.	T	C	.	.	AC=0;AF=0.0000;aachange=M237T;homoplasmy=-;heteroplasmy=+;PubmedIDs=34969639+26894521+21850008+31996177+32652755;Disease=LHON/MELAS-overlap-syndrome;DiseaseStatus=Cfrm-[LP]
MT	13051	.	G	A	.	.	AC=0;AF=0.0000;aachange=G239S;homoplasmy=+;heteroplasmy=-;PubmedIDs=12736867+27164671+32652755+38357617;Disease=LHON;DiseaseStatus=Cfrm-[VUS*]
MT	13063	.	G	A	.	.	AC=2;AF=0.0031;aachange=V243I;homoplasmy=-;heteroplasmy=+;PubmedIDs=17535832+18332249+18977334+32652755;Disease=Adult-onset-Encephalopathy-/-Ataxia;DiseaseStatus=Reported-[VUS]
MT	13084	.	A	T	.	.	AC=0;AF=0.0000;aachange=S250C;homoplasmy=-;heteroplasmy=+;PubmedIDs=12796552+15972314+21457906+37038312+33062892;Disease=MELAS-/-Leigh-Disease;DiseaseStatus=Reported-[VUS]
MT	13091	.	T	C	.	.	AC=0;AF=0.0000;aachange=M252T;homoplasmy=-;heteroplasmy=+;PubmedIDs=31996177;Disease=MELAS+Migraine;DiseaseStatus=Reported
MT	13094	.	T	C	.	.	AC=1;AF=0.0015;aachange=V253A;homoplasmy=+;heteroplasmy=+;PubmedIDs=33763872+18977334+22577219+22249460+21364701+29479304+29506874+29987491+31226990+28429146+34135385+31665838+37038312+35094435;Disease=Ataxia+PEO-/-MELAS+-LD+-LHON+-myoclonus+-fatigue;DiseaseStatus=Cfrm-[P]
MT	13135	.	G	A	.	.	AC=659;AF=1.0094;aachange=A267T;homoplasmy=+;heteroplasmy=-;PubmedIDs=19473338+29987491+36563715;Disease=Possible-HCM-susceptibility-/-PCOS-patients;DiseaseStatus=Reported;HGFL=M18:30/88.24|M76:24/68.57|P4:77/90.59
MT	13138	.	G	A	.	.	AC=0;AF=0.0000;aachange=E268K;homoplasmy=+;heteroplasmy=-;PubmedIDs=31743754;Disease=Possible-LHON-modulator;DiseaseStatus=Reported
MT	13204	.	G	A	.	.	AC=46;AF=0.0705;aachange=V290I;homoplasmy=+;heteroplasmy=-;PubmedIDs=20454697+21281460+24456990;Disease=Peripheral-neuropathy-of-T2-diabetes;DiseaseStatus=Reported
MT	13268	.	G	A	.	.	AC=0;AF=0.0000;aachange=G311E;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=40181542;Disease=Possible-ROS-inducer-triggered-lung-cancer-cell-death;DiseaseStatus=Reported
MT	13271	.	T	C	.	.	AC=1;AF=0.0015;aachange=L312P;homoplasmy=-;heteroplasmy=+;PubmedIDs=23065728+18396045;Disease=Exercise-intolerance-(EXIT);DiseaseStatus=Reported
MT	13276	.	A	G	.	.	AC=1714;AF=2.6254;aachange=M314V;homoplasmy=+;heteroplasmy=-;PubmedIDs=28890306+27422531;Disease=MIDD+retinopathy;DiseaseStatus=Conflicting-reports;HGFL=L0:1711/98.56
MT	13289	.	G	A	.	.	AC=0;AF=0.0000;aachange=G318D;homoplasmy=nr;heteroplasmy=nr;Disease=MELAS;DiseaseStatus=Reported
MT	13340	.	T	C	.	.	AC=1;AF=0.0015;aachange=F335S;homoplasmy=+;heteroplasmy=-;PubmedIDs=34177762;Disease=LHON;DiseaseStatus=Reported
MT	13345	.	G	A	.	.	AC=0;AF=0.0000;aachange=A337T;homoplasmy=+;heteroplasmy=-;Disease=LHON;DiseaseStatus=Reported
MT	13376	.	T	C	.	.	AC=1;AF=0.0015;aachange=I347T;homoplasmy=+;heteroplasmy=-;PubmedIDs=31689606+31830610;Disease=MELAS-w-medial-temporal-lobe-atrophy;DiseaseStatus=Reported
MT	13379	.	A	C,G	.	.	AC=0,0;AF=0.0000,0.0000;aachange=H348P,H348R;homoplasmy=+,+;heteroplasmy=-,-;PubmedIDs=39843744+17003408,31669237+34177762;Disease=LHON,LHON;DiseaseStatus=Reported-[VUS],Cfrm-[VUS*]
MT	13511	.	A	T	.	.	AC=0;AF=0.0000;aachange=K392M;homoplasmy=-;heteroplasmy=+;PubmedIDs=17400793+27450679+29987491;Disease=Leigh-like-syndrome;DiseaseStatus=Reported
MT	13513	.	G	A	.	.	AC=1;AF=0.0015;aachange=D393N;homoplasmy=-;heteroplasmy=+;PubmedIDs=9299505+10589546+11198278+12624137+10908920+18674747+16483543+24667782+23847141+25192510+27919073+29428506+34146515+34298071+23010433+14520659+14730434+15382008+15972314+18332249+18402672+15576045+18977334+19370763+19617458+20064630+19268652+17400793+18495510+19054921+20408961+21174521+20972245+21457906+24642831+21364701+21850008+27450679+28951770+30095618+29228836+29670672+23874496+30128709+30461153+31669237+31996177+30950033+32220313+33746872+33717984+28429146+24931247+26741492+34670906+35778412+37038312+36975485+37737178+38465286+31687263+23920046+35094435+40400026;Disease=Leigh-Disease-/-MELAS-/-LHON-MELAS-Overlap-Syndrome-/-negative-association-w-Carotid-Atherosclerosis;DiseaseStatus=Cfrm-[P]
MT	13514	.	A	G	.	.	AC=0;AF=0.0000;aachange=D393G;homoplasmy=-;heteroplasmy=+;PubmedIDs=11198278+23847141+14684687+15521990+15972314+18332249+18402672+15576045+18977334+20064630+20972245+21712854+30095618+29987491+26206091+32504279+37038312;Disease=Leigh-Disease-/-MELAS-/-Ca2+-downregulation;DiseaseStatus=Cfrm-[LP]
MT	13528	.	A	G	.	.	AC=76;AF=0.1164;aachange=T398A;homoplasmy=+;heteroplasmy=-;PubmedIDs=11102991+11938495+15972314+19370763+19103152+22589247+17940288+18477584+29987491+32094358+32652755+34599203+26735972+28419775+31594508;Disease=LHON-like+-LHON+-MELAS;DiseaseStatus=Reported-[LB]
MT	13565	.	C	T	.	.	AC=77;AF=0.1179;aachange=S410F;homoplasmy=+;heteroplasmy=-;PubmedIDs=11938495+19370763+17940288+18477584+26735972+27110715;Disease=Found-in-MELAS-patient;DiseaseStatus=Reported
MT	13580	.	C	G	.	.	AC=0;AF=0.0000;aachange=A415G;homoplasmy=-;heteroplasmy=+;PubmedIDs=15608681;Disease=Thyroid-Cancer;DiseaseStatus=Reported
MT	13590	.	G	A	.	.	AC=3595;AF=5.5065;aachange=L418L;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=23096691+36563715;Disease=Possible-protective-factor-for-high-altitude-sickness-/-PCOS-patient;DiseaseStatus=Reported;HGFL=B2:1159/99.83|L2:1662/98.99|M32:148/89.16
MT	13615	.	A	G	.	.	AC=10;AF=0.0153;aachange=I427V;homoplasmy=-;heteroplasmy=+;PubmedIDs=38741249;Disease=LHON;DiseaseStatus=Reported
MT	13637	.	A	G	.	.	AC=611;AF=0.9359;aachange=Q434R;homoplasmy=+;heteroplasmy=-;PubmedIDs=7901141+24319328+20301353+29253894;Disease=Possible-LHON-factor;DiseaseStatus=Reported
MT	13702	.	C	G	.	.	AC=20;AF=0.0306;aachange=R456G;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=11853713;Disease=Possible-LHON-helper-(one-14484-patient);DiseaseStatus=Reported
MT	13708	.	G	A	.	.	AC=4793;AF=7.3415;aachange=A458T;homoplasmy=+;heteroplasmy=+;PubmedIDs=8680405+1634041+1732158+8163275+1550131+1900003+8213820+1764087+1417830+8024249+1463007+8053461+8071952+7770132+7635294+7710535+7977345+7814218+7599218+7763260+8741876+8978068+9561330+9150158+10520236+8755941+11935318+12618962+12150954+11339587+27498855+30369864+36322731+16050984+15972314+10737123+18270557+10545708+18619472+10424809+10216058+8600429+21067478+21288980+21457906+21694444+28341142+29987491+27119776+32887465+34573281+36563715;Disease=LHON-/-Increased-MS-risk-/-higher-freq-in-PD-ADS-/-PCOS-patient;DiseaseStatus=Conflicting-reports;HGFL=F2:199/99.50|H18:41/97.62|J1:2288/99.39|J2:829/99.76|M26:11/100.00|M32:149/89.76|M62:26/96.30|P3:22/57.89
MT	13712	.	C	T	.	.	AC=11;AF=0.0168;aachange=A459V;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=11853713;Disease=Possible-LHON-helper-(one-11778-patient);DiseaseStatus=Reported
MT	13730	.	G	A	.	.	AC=0;AF=0.0000;aachange=G465E;homoplasmy=-;heteroplasmy=+;PubmedIDs=8213825+7760326+20301353+8899049+8593537+15972314+21457906+12638016;Disease=LHON;DiseaseStatus=Reported-[VUS]
MT	13759	.	G	A	.	.	AC=2229;AF=3.4142;aachange=A475T;homoplasmy=+;heteroplasmy=-;PubmedIDs=16331570;Disease=Possible-LHON-factor;DiseaseStatus=Reported;HGFL=F1:1084/74.60|H11:266/99.25|V9:27/81.82
MT	13831	.	C	A	.	.	AC=3;AF=0.0046;aachange=L499M;homoplasmy=-;heteroplasmy=+;PubmedIDs=15608681+29987491;Disease=Thyroid-Cancer-Cell-Line;DiseaseStatus=Reported
MT	13849	.	A	C	.	.	AC=2;AF=0.0031;aachange=N505H;homoplasmy=+;heteroplasmy=-;PubmedIDs=18587274+29987491;Disease=MELAS;DiseaseStatus=Reported---possibly-secondary
MT	13966	.	A	G	.	.	AC=886;AF=1.3571;aachange=T544A;homoplasmy=+;heteroplasmy=-;PubmedIDs=38858654;Disease=Greater-risk-with-hg-X-of-end-stage-kidney-disease;DiseaseStatus=Reported;HGFL=M6:24/57.14|X1:20/100.00|X2:652/100.00|X3:22/100.00
MT	13967	.	C	T	.	.	AC=201;AF=0.3079;aachange=T544M;homoplasmy=+;heteroplasmy=-;PubmedIDs=7901141+2567271+8600429+29987491;Disease=Possible-LHON-factor;DiseaseStatus=Reported
MT	14002	.	A	G	.	.	AC=147;AF=0.2252;aachange=T556A;homoplasmy=+;heteroplasmy=-;PubmedIDs=31358833;Disease=High-altitude-pulmonary-edema-susceptibility;DiseaseStatus=Reported
MT	14063	.	T	C	.	.	AC=26;AF=0.0398;aachange=I576T;homoplasmy=+;heteroplasmy=-;PubmedIDs=23304069+29987491;Disease=Potentially-functional-variant-cosegregating-with-LHON3635A;DiseaseStatus=Reported
MT	14091	.	A	T	.	.	AC=0;AF=0.0000;aachange=K585N;homoplasmy=-;heteroplasmy=+;PubmedIDs=23463613+29987491;Disease=Developmental-delay+-seizure+-hearing-loss+-diabetes;DiseaseStatus=Reported
MT	14163	.	C	T	.	.	AC=13;AF=0.0199;aachange=A171T;homoplasmy=+;heteroplasmy=-;PubmedIDs=21838605+21504270+29987491;Disease=Possible-deafness-factor;DiseaseStatus=Conflicting-reports
MT	14179	.	A	G	.	.	AC=348;AF=0.5330;aachange=Y165Y;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=28696810;Disease=Recurrent-pregnancy-loss;DiseaseStatus=Reported;HGFL=U6:329/54.74
MT	14258	.	G	A	.	.	AC=39;AF=0.0597;aachange=P139L;homoplasmy=+;heteroplasmy=-;PubmedIDs=29444077;Disease=LHON-synergistic-combo-10680A-+-12033G-+-14258A-also-combo-14258A-+-14582G;DiseaseStatus=Reported:-individually-neutral-variants-causing-LHON-in-combination
MT	14263	.	C	T	.	.	AC=7;AF=0.0107;aachange=E137E;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=28696810;Disease=Recurrent-pregnancy-loss;DiseaseStatus=Reported
MT	14279	.	G	A	.	.	AC=7;AF=0.0107;aachange=S132L;homoplasmy=+;heteroplasmy=-;PubmedIDs=15922297+19047048+20301353+18806273+29987491+32652755+26735972;Disease=LHON;DiseaseStatus=Reported
MT	14319	.	T	C	.	.	AC=81;AF=0.1241;aachange=N119D;homoplasmy=+;heteroplasmy=-;PubmedIDs=21457906+18524835+29987491;Disease=PD+-early-onset;DiseaseStatus=Reported
MT	14325	.	T	C	.	.	AC=61;AF=0.0934;aachange=N117D;homoplasmy=+;heteroplasmy=-;PubmedIDs=12736867+20301353+29987491;Disease=LHON;DiseaseStatus=Reported
MT	14340	.	C	T	.	.	AC=24;AF=0.0368;aachange=V112M;homoplasmy=+;heteroplasmy=-;PubmedIDs=15637703+29987491;Disease=SNHL;DiseaseStatus=Reported;HGFL=M11:24/55.81
MT	14342	.	C	A	.	.	AC=0;AF=0.0000;aachange=G111V;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	14351	.	T	C	.	.	AC=2;AF=0.0031;aachange=E108G;homoplasmy=-;heteroplasmy=+;PubmedIDs=27155156;Disease=SNHL-+-neurodevelopmental-delay;DiseaseStatus=Reported
MT	14430	.	A	C,G	.	.	AC=0,0;AF=0.0000,0.0000;aachange=W82G,W82R;homoplasmy=-,+;heteroplasmy=+,-;PubmedIDs=38571879,15608681+32432562;Disease=Leigh-Syndrome,Thyroid-Cancer-/-Leigh-Syndrome;DiseaseStatus=Reported,Reported
MT	14439	.	G	A	.	.	AC=0;AF=0.0000;aachange=P79S;homoplasmy=+;heteroplasmy=-;PubmedIDs=25356405+29987491+28429146;Disease=LS-/-Mitochondrial-Respiratory-Chain-Disorder;DiseaseStatus=Reported
MT	14441	.	T	C	.	.	AC=0;AF=0.0000;aachange=Y78C;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=28862604;Disease=Leigh-like-phenotype;DiseaseStatus=Reported
MT	14453	.	G	A	.	.	AC=0;AF=0.0000;aachange=A74V;homoplasmy=-;heteroplasmy=+;PubmedIDs=11781695+15972314+21457906+24642831+21364701+29987491+32552696+33644659+32652755+34933128;Disease=MELAS-/-Leigh-Disease;DiseaseStatus=Cfrm-[LP]
MT	14459	.	G	A	.	.	AC=3;AF=0.0046;aachange=A72V;homoplasmy=+;heteroplasmy=+;PubmedIDs=8680405+8016139+7654063+8622678+7760326+10072046+10426138+10894222+12205655+18674747+22879922+23847141+24398099+20301353+29253894+29408632+37587338+15126312+14520659+14735585+14735584+15972314+18402672+20064630+19268652+21067478+21457906+21364701+28951770+30095618+29670672+23874496+25834827+19714555+21749722+29987491+30128709+30461153+31221418+32045392+32220313+33717984+28429146+26741492+37038312+34536563;Disease=LDYT-/-Leigh-Disease-/-dystonia-/-carotid-atherosclerosis-risk;DiseaseStatus=Cfrm-[P]
MT	14465	.	G	A	.	.	AC=0;AF=0.0000;aachange=T70I;homoplasmy=-;heteroplasmy=+;PubmedIDs=34264415+32652755+34536563+37628761;Disease=LHON-/-various-supected-mitochondrial-disease;DiseaseStatus=Cfrm-[LP]
MT	14482	.	C	A,G	.	.	AC=2,0;AF=0.0031,0.0000;aachange=M64I,M64I;homoplasmy=+,+;heteroplasmy=+,+;PubmedIDs=12112086+12150954+16532388+22879922+20301353+29253894+15972314+11931086+18402672+19319978+21457906+29987491+17122117,9443868+21887510+20301353+15972314+18402672+20064630+29987491+8742999;Disease=LHON,LHON;DiseaseStatus=Cfrm-[LP],Cfrm-[LP]
MT	14484	.	T	C	.	.	AC=71;AF=0.1088;aachange=M64V;homoplasmy=+;heteroplasmy=+;PubmedIDs=8680405+1732158+2018041+8470982+8213820+1417830+1463007+8071952+7853025+7770132+7611298+7604366+7635294+7603534+7821467+7823072+7977345+7735876+7760326+7599218+7612556+9012411+8659531+8659512+10976107+9484365+9339703+9302261+9412783+9561832+9150158+9177303+9852675+8533781+10072046+10520236+7877803+8755941+10426138+11754070+11741983+11938495+12112086+12205655+12436196+12446713+12464729+12749053+12827453+12379308+16083845+15033723+16523671+16532388+16380918+17886296+18674747+19047048+20074547+11339587+20471050+21253496+11001192+19710181+19525327+19936068+15883259+21788663+21810891+20628600+17894548+18235013+20491810+22194643+15342361+22410442+21859767+15629832+15629831+21887510+24369379+23111160+22749828+25192510+25053773+25338955+24398099+27127184+20301353+27847334+28040497+28233183+28481993+26404827+29253894+27071925+12807863+30081212+29428506+28991104+28994349+30369864+31619779+31619780+34168607+33360266+37587338+37878684+12711217+14671420+15126312+12724691+15060117+14748908+15467980+11523562+8931573+16050984+15954041+8941270+15972314+17479363+12464728+15635488+17334960+18214789+18344382+18402672+15483043+18320530+11331900+15548492+11504997+11450909+16120433+18070226+15282189+16829155+17406640+16972023+19394449+18440284+16120317+16806060+10545708+16564802+19370763+19319978+11124301+17942074+20064630+20123042+19268652+20599858+20211598+20943885+21067478+20809775+17292333+19733221+17403843+19098324+17452034+15272763+19255150+18806273+19800080+20976138+19247386+15720387+21457906+21694444+21397051+15282179+21685233+22258525+23674761+26605371+27746671+27177320+27787713+27721048+29336589+29983856+25909222+28392196+31040363+29133642+30597069+29249004+29387390+11579587+31817256+29189152+29980632+31932089+31776719+32704028+33552719+33706792+28314831+17122117+12518276+32991883+33159657+32991388+32220313+33584522+33911213+28455970+11853713+34573281+34122299+34415266+32105823+28716668+33477675+29454364+34673906+34915201+35104579+34670133+8742999+33101779+34732400+35723074+12638016+36051150+24508359+10631164+35773337+29996615+27741086+35567411+33095398+35623556+35130313+30881859+23063736+27803870+30201499+8582049+28944608+31605306+30008192+17899121+32861874+28761322+21928272+27582625+30712826+30822445+31482278+23665487+32111141+31566038+35858578+36361994+36565700+36565701+36737829+36827238+37038312+37537557+37988592+38346855+39264244+23920046+37628761+40969215+30872186;Disease=LHON;DiseaseStatus=Cfrm-[P]
MT	14487	.	T	C	.	.	AC=0;AF=0.0000;aachange=M63V;homoplasmy=-;heteroplasmy=+;PubmedIDs=17535832+24126373+23847141+23010433+14595656+14520668+14684687+15972314+18402672+15576045+18977334+20064630+20019223+19062322+16337195+20972245+21457906+21196529+15625630+16044424+19103152+21364701+30095618+29987491+30128709+30461153+28122886+23813926+33706792+26530508+32162843+34223155+28429146+26741492+30741831+27338358+35715829+31665838+37038312+35094435;Disease=Dystonia-/-Leigh-Disease-/-ataxia-/-ptosis-/-epilepsy;DiseaseStatus=Cfrm-[P]
MT	14495	.	A	G	.	.	AC=2;AF=0.0031;aachange=L60S;homoplasmy=-;heteroplasmy=+;PubmedIDs=11133798+16380918+22879922+20301353+29253894+15972314+21457906+21397051+17122117+33779865;Disease=LHON;DiseaseStatus=Cfrm-[LP]
MT	14498	.	T	C	.	.	AC=0;AF=0.0000;aachange=Y59C;homoplasmy=+;heteroplasmy=+;PubmedIDs=9177303+8854108+20301353+15972314;Disease=LHON;DiseaseStatus=Reported
MT	14502	.	T	C	.	.	AC=223;AF=0.3416;aachange=I58V;homoplasmy=+;heteroplasmy=-;PubmedIDs=24398099+15896721+18440284+20691156+19732751+29987491+27427386+29387390+32045392+33858285+40969215;Disease=LHON;DiseaseStatus=Reported---possibly-synergistic;HGFL=M10:78/100.00
MT	14511	.	CTA	C	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=32158465;Disease=EXIT-w-mild-myopathy-&-hyperCKaemia;DiseaseStatus=Cfrm-[LP]
MT	14535	.	C	CC	.	.	AC=1;AF=0.0015;aachange=frameshift;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=23847141;Disease=DMDF;DiseaseStatus=Reported
MT	14538	.	A	G	.	.	AC=0;AF=0.0000;aachange=F46L;homoplasmy=+;heteroplasmy=-;PubmedIDs=34177762+37628761;Disease=LHON;DiseaseStatus=Reported
MT	14568	.	C	T	.	.	AC=6;AF=0.0092;aachange=G36S;homoplasmy=+;heteroplasmy=-;PubmedIDs=9177303+10447650+12150954+22879922+20301353+29253894+12324878+15972314+19319978+20064630;Disease=LHON;DiseaseStatus=Cfrm-[LP]
MT	14577	.	T	C	.	.	AC=451;AF=0.6908;aachange=I33V;homoplasmy=-;heteroplasmy=+;PubmedIDs=10909988;Disease=MIDM;DiseaseStatus=Reported;HGFL=E1:402/99.75
MT	14582	.	A	G	.	.	AC=363;AF=0.5560;aachange=V31A;homoplasmy=+;heteroplasmy=-;PubmedIDs=29444077;Disease=LHON-synergistic-combo-14258A-+-14582G;DiseaseStatus=Reported:-individually-neutral-variants-causing-LHON-in-combination;HGFL=H4:344/90.77
MT	14596	.	A	T	.	.	AC=0;AF=0.0000;aachange=I26M;homoplasmy=+;heteroplasmy=-;PubmedIDs=8644732+20301353+15972314+17123466+29987491;Disease=LHON-with-hereditary-spastic-dystonia;DiseaseStatus=Reported-[VUS]
MT	14597	.	A	G	.	.	AC=0;AF=0.0000;aachange=I26T;homoplasmy=-;heteroplasmy=+;PubmedIDs=31669237+34045482;Disease=LHON-/-LS;DiseaseStatus=Cfrm-[LP]
MT	14598	.	T	C	.	.	AC=7;AF=0.0107;aachange=I26V;homoplasmy=+;heteroplasmy=-;PubmedIDs=24002810+23463613;Disease=PD-/-LS;DiseaseStatus=Reported-[VUS]
MT	14600	.	G	A	.	.	AC=0;AF=0.0000;aachange=P25L;homoplasmy=+;heteroplasmy=+;PubmedIDs=17535832+23129651+33536343+40036074+18977334+37038312+33514727+28708239;Disease=Leigh-Disease-w/optic-atrophy-/-mouse-model;DiseaseStatus=Reported
MT	14668	.	C	T	.	.	AC=2516;AF=3.8538;aachange=M2M;homoplasmy=+;heteroplasmy=-;PubmedIDs=19290059;Disease=Depressive-disorder-associated|-reduced-risk-of-esophageal-cancer-[D1-D2-D3-D4-marker];DiseaseStatus=Reported;HGFL=D1:521/100.00|D2:99/100.00|D3:45/100.00|D4:1740/99.60|N7:15/100.00
MT	14674	.	T	C,G	.	.	AC=10,0;AF=0.0153,0.0000;homoplasmy=+,+;heteroplasmy=-,-;PubmedIDs=8155739+29253894+31965079+16150714+19720722+21194154+32970680+33128823+34732400+34806237+33832841+21931168+31333056+23814040+25407320,21194154+23814040+25407320;Disease=Reversible-COX-deficiency-myopathy,Reversible-COX-deficiency-myopathy;DiseaseStatus=Cfrm-[LP],Reported-[VUS]
MT	14677	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=40770229;Disease=CPEO;DiseaseStatus=Reported
MT	14680	.	C	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=17715279;Disease=Mitochondrial-encephalomyopathy;DiseaseStatus=Reported
MT	14685	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23334599;Disease=Cataracts-w-spastic-paraparesis-&-ataxia;DiseaseStatus=Reported
MT	14687	.	A	G	.	.	AC=393;AF=0.6020;homoplasmy=+;heteroplasmy=-;PubmedIDs=16773565+31965079+12760436+29340697+28429146;Disease=Mito-myopathy-w-respiratory-failure|-intellectual-disability;DiseaseStatus=Reported;HGFL=M51:74/98.67
MT	14692	.	A	G	.	.	AC=25;AF=0.0383;homoplasmy=+;heteroplasmy=-;PubmedIDs=8728098+27544295+27519417+33289513+32169613+34991096;Disease=LHON-helper-/-Maternally-inherited-diabetes-&-deafness-/tic-disorder;DiseaseStatus=Reported-[VUS]
MT	14693	.	A	G	.	.	AC=355;AF=0.5438;homoplasmy=+;heteroplasmy=+;PubmedIDs=16947981+23563965+31965079+14571459+16364244+16955413+18708405+17434142+19818876+19376484+16331560+16414144+29387390+22538251+33552719+34053002+33840063+34120304+39264244;Disease=MELAS-/-LHON-/-DEAF-/-hypertension-helper;DiseaseStatus=Reported;HGFL=Y1:149/99.33|Y2:63/100.00
MT	14696	.	A	G	.	.	AC=110;AF=0.1685;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+15286228;Disease=Progressive-Encephalopathy;DiseaseStatus=Reported;HGFL=P4:48/56.47
MT	14701	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=34400372;Disease=Reversible-infantile-respiratory-chain-deficiency-(RIRCD);DiseaseStatus=Reported
MT	14709	.	T	C	.	.	AC=1;AF=0.0015;homoplasmy=+;heteroplasmy=+;PubmedIDs=7726154+7726155+9353617+11938495+12393175+10392369+10220138+15880407+15983868+17886296+25652200+29253894+31965079+15126302+11437868+15048886+15607216+17653689+20045353+20064630+22577219+22249460+19199242+32313153+23301511+26469001+32948797+22538251;Disease=MM+DMDF-/-Encephalomyopathy-/-Dementia+diabetes+ophthalmoplegia;DiseaseStatus=Cfrm-[LP]
MT	14710	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23847141+31965079+11506394+15670724+20064630+19718780;Disease=Encephalomyopathy-+-Retinopathy;DiseaseStatus=Cfrm-[VUS*]
MT	14721	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=24667782;Disease=Isolated-complex-I-deficiency;DiseaseStatus=Reported
MT	14723	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=20810132+22258525;Disease=CPEO-+-Myopathy;DiseaseStatus=Reported
MT	14724	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23847141+17266923+19718780;Disease=Mito-Leukoencephalopathy;DiseaseStatus=Reported-[VUS]
MT	14728	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=17897888;Disease=Late-onset-mitochondrial-encephalomyopathy;DiseaseStatus=Reported
MT	14739	.	G	A	.	.	AC=4;AF=0.0061;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+17056256+19718780;Disease=EXIT;DiseaseStatus=Reported-[VUS]
MT	14783	.	T	C	.	.	AC=13773;AF=21.0964;aachange=L13L;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33420243;Disease=Possible-role-in-high-altitude-sickness;DiseaseStatus=Reported;HGFL=C1:953/100.00|C4:792/99.87|C5:218/100.00|C7:216/100.00|D1:498/95.59|D2:99/100.00|D3:45/100.00|D4:1740/99.60|D5:435/99.77|D6:34/100.00|E1:401/99.50|E2:93/100.00|G1:207/100.00|G2:359/99.72|G3:60/96.77|M1:312/100.00|M10:78/100.00|M11:43/100.00|M12:145/100.00|M13:77/100.00|M17:67/100.00|M18:34/100.00|M2:251/97.29|M20:82/100.00|M21:134/100.00|M22:13/100.00|M23:233/100.00|M24:63/100.00|M26:11/100.00|M27:158/100.00|M28:129/100.00|M29:25/100.00|M3:221/100.00|M30:157/99.37|M31:30/100.00|M32:166/100.00|M33:93/100.00|M34:11/100.00|M35:113/98.26|M36:40/100.00|M37:38/97.44|M38:28/100.00|M39:45/100.00|M4:36/100.00|M40:31/100.00|M41:12/100.00|M42:74/98.67|M44:12/100.00|M45:31/100.00|M46:16/100.00|M49:42/100.00|M5:246/98.80|M50:33/100.00|M51:74/98.67|M52:52/96.30|M53:26/96.30|M54:11/100.00|M55:14/100.00|M57:17/100.00|M6:42/100.00|M60:14/100.00|M61:26/100.00|M62:27/100.00|M65:56/100.00|M66:14/100.00|M68:35/100.00|M69:15/100.00|M7:1637/99.88|M70:13/100.00|M71:115/100.00|M72:22/100.00|M73:55/100.00|M74:136/100.00|M76:35/100.00|M8:111/100.00|M9:358/100.00|M91:25/100.00|Q1:679/99.85|Q2:72/100.00|Q3:88/100.00|Z1:114/100.00|Z3:126/100.00|Z4:40/100.00
MT	14786	.	ATTAA	A	.	.	AC=0;AF=0.0000;aachange=frameshift;homoplasmy=-;heteroplasmy=+;PubmedIDs=9894888;Disease=PD-/-MELAS;DiseaseStatus=Cfrm-[LP]
MT	14831	.	G	A	.	.	AC=120;AF=0.1838;aachange=A29T;homoplasmy=+;heteroplasmy=-;PubmedIDs=12150954+20301353;Disease=LHON;DiseaseStatus=Reported;HGFL=H50:11/100.00
MT	14841	.	A	G	.	.	AC=21;AF=0.0322;aachange=N32S;homoplasmy=-;heteroplasmy=+;PubmedIDs=19555656;Disease=LHON-helper-mut.;DiseaseStatus=Reported
MT	14846	.	G	A	.	.	AC=0;AF=0.0000;aachange=G34S;homoplasmy=-;heteroplasmy=+;PubmedIDs=10502593+14520667+11506394+11782982+21457906+28951770+29670672+23874496+25834827;Disease=EXIT-/-possibly-antiatherogenic+-poss.-myocardial-infarction-association;DiseaseStatus=Reported-[VUS]
MT	14849	.	T	C	.	.	AC=0;AF=0.0000;aachange=S35P;homoplasmy=-;heteroplasmy=+;PubmedIDs=11891837+21457906+20544923;Disease=EXIT-/-Septo-Optic-Dysplasia;DiseaseStatus=Cfrm-[VUS*]
MT	14864	.	T	C	.	.	AC=3;AF=0.0046;aachange=C40R;homoplasmy=-;heteroplasmy=+;PubmedIDs=22638077;Disease=MELAS;DiseaseStatus=Reported
MT	14894	.	T	C	.	.	AC=12;AF=0.0184;aachange=F50L;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=10663786;Disease=LHON;DiseaseStatus=Reported
MT	14970	.	A	G	.	.	AC=7;AF=0.0107;aachange=Y75C;homoplasmy=nr;heteroplasmy=nr;Disease=LHON;DiseaseStatus=Reported
MT	15024	.	G	A	.	.	AC=40;AF=0.0613;aachange=C93Y;homoplasmy=+;heteroplasmy=-;PubmedIDs=20153673+37562966;Disease=Possible-DEAF-modifier;DiseaseStatus=Reported
MT	15043	.	G	A	.	.	AC=15281;AF=23.4062;aachange=G99G;homoplasmy=+;heteroplasmy=-;PubmedIDs=19290059+33420243+36563715;Disease=MDD-associated-/-possible-factor-in-high-altitude-sickness-/-PCOS-patient;DiseaseStatus=Reported;HGFL=C1:950/99.69|C4:792/99.87|C5:218/100.00|C7:211/97.69|D1:521/100.00|D2:99/100.00|D3:45/100.00|D4:1741/99.66|D5:435/99.77|D6:34/100.00|E1:402/99.75|E2:92/98.92|G1:207/100.00|G2:357/99.17|G3:62/100.00|I1:328/99.09|I2:239/100.00|I3:80/100.00|I4:150/99.34|I5:113/100.00|M1:310/99.36|M10:78/100.00|M11:43/100.00|M12:145/100.00|M13:77/100.00|M17:67/100.00|M18:32/94.12|M2:252/97.67|M20:82/100.00|M21:134/100.00|M22:13/100.00|M23:233/100.00|M24:63/100.00|M26:11/100.00|M27:158/100.00|M28:129/100.00|M29:25/100.00|M3:219/99.10|M30:157/99.37|M31:30/100.00|M32:166/100.00|M33:91/97.85|M34:11/100.00|M35:115/100.00|M36:40/100.00|M37:39/100.00|M38:28/100.00|M39:44/97.78|M4:34/94.44|M40:31/100.00|M41:12/100.00|M42:73/97.33|M44:12/100.00|M45:31/100.00|M46:16/100.00|M49:42/100.00|M5:245/98.39|M50:32/96.97|M51:75/100.00|M52:48/88.89|M53:27/100.00|M54:11/100.00|M55:14/100.00|M57:17/100.00|M6:42/100.00|M60:14/100.00|M61:26/100.00|M62:27/100.00|M65:56/100.00|M66:14/100.00|M68:35/100.00|M69:15/100.00|M7:1638/99.94|M70:13/100.00|M71:115/100.00|M72:22/100.00|M73:55/100.00|M74:136/100.00|M76:35/100.00|M8:111/100.00|M9:358/100.00|M91:25/100.00|Q1:680/100.00|Q2:72/100.00|Q3:88/100.00|Z1:114/100.00|Z3:126/100.00|Z4:40/100.00
MT	15059	.	G	A	.	.	AC=0;AF=0.0000;aachange=G105Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=9894887+10502593+28951770+29670672+23395464+23874496+23158979;Disease=MM-/-carotid-atherosclerosis-risk-/-essential-hypertension;DiseaseStatus=Reported
MT	15060	.	G	A	.	.	AC=0;AF=0.0000;aachange=G105E;homoplasmy=+;heteroplasmy=-;PubmedIDs=28027978;Disease=Mitochondrial-Respiratory-Chain-Disorder;DiseaseStatus=Reported
MT	15077	.	G	A	.	.	AC=163;AF=0.2497;aachange=E111K;homoplasmy=+;heteroplasmy=-;PubmedIDs=17637808+22241583+31817256+34346491+36563715;Disease=DEAF-/-LHON-/-helper-mutation-for-maternally-inherited-hypertension-/-PCOS-patient;DiseaseStatus=Reported
MT	15084	.	G	A	.	.	AC=0;AF=0.0000;aachange=W113Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=10502593+14520667;Disease=EXIT;DiseaseStatus=Reported
MT	15092	.	G	A	.	.	AC=0;AF=0.0000;aachange=G116S;homoplasmy=-;heteroplasmy=+;PubmedIDs=25125337;Disease=MELAS;DiseaseStatus=Reported
MT	15150	.	G	A	.	.	AC=0;AF=0.0000;aachange=W135Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=11464242;Disease=EXIT;DiseaseStatus=Cfrm-[LP]
MT	15153	.	G	A	.	.	AC=6;AF=0.0092;aachange=G136D;homoplasmy=-;heteroplasmy=+;PubmedIDs=27450679;Disease=Suspected-mito-disease;DiseaseStatus=Reported
MT	15158	.	A	G	.	.	AC=0;AF=0.0000;aachange=M138V;homoplasmy=-;heteroplasmy=+;PubmedIDs=27450679;Disease=Suspected-mito-disease;DiseaseStatus=Reported
MT	15168	.	G	A	.	.	AC=0;AF=0.0000;aachange=W141Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=10502593+14520667;Disease=EXIT;DiseaseStatus=Reported
MT	15170	.	G	A	.	.	AC=0;AF=0.0000;aachange=G142Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=14506725;Disease=EXIT;DiseaseStatus=Reported
MT	15197	.	T	C	.	.	AC=0;AF=0.0000;aachange=S151P;homoplasmy=-;heteroplasmy=+;PubmedIDs=11464242+21457906;Disease=EXIT;DiseaseStatus=Reported-[VUS]
MT	15200	.	G	T	.	.	AC=0;AF=0.0000;aachange=A152S;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-factor-in-sepsis;DiseaseStatus=Reported
MT	15209	.	T	C	.	.	AC=8;AF=0.0123;aachange=Y155H;homoplasmy=+;heteroplasmy=-;PubmedIDs=24771578;Disease=Prader-Willi-syndrome;DiseaseStatus=Reported
MT	15215	.	G	A	.	.	AC=0;AF=0.0000;aachange=G157Term;homoplasmy=nr;heteroplasmy=nr;Disease=MELAS;DiseaseStatus=Reported
MT	15218	.	A	G	.	.	AC=1137;AF=1.7416;aachange=T158A;homoplasmy=+;heteroplasmy=-;PubmedIDs=31743754;Disease=Possible-LHON-modulator;DiseaseStatus=Reported;HGFL=HV1:156/97.50|M10:65/83.33
MT	15234	.	G	A	.	.	AC=0;AF=0.0000;aachange=W163Term;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=23847141;Disease=Leigh-stroke-like-leukodystrophy;DiseaseStatus=Reported
MT	15236	.	A	G	.	.	AC=945;AF=1.4475;aachange=I164V;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=11853713;Disease=Possible-LHON-helper-(one-11778-patient);DiseaseStatus=Reported
MT	15237	.	T	C	.	.	AC=7;AF=0.0107;aachange=I164T;homoplasmy=+;heteroplasmy=-;PubmedIDs=23304069;Disease=Potentially-functional-variant-cosegregating-with-LHON3635A;DiseaseStatus=Reported
MT	15242	.	G	A	.	.	AC=0;AF=0.0000;aachange=G166Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=9643969+11047755;Disease=Mitochondrial-Encephalomyopathy;DiseaseStatus=Cfrm-[LP]
MT	15243	.	G	A	.	.	AC=0;AF=0.0000;aachange=G166E;homoplasmy=-;heteroplasmy=+;PubmedIDs=10453733+34969639+20064630;Disease=HCM;DiseaseStatus=Reported
MT	15246	.	G	A	.	.	AC=0;AF=0.0000;aachange=G167D;homoplasmy=-;heteroplasmy=+;PubmedIDs=28027978;Disease=Mitochondrial-Respiratory-Chain-Disorder;DiseaseStatus=Reported
MT	15256	.	A	G	.	.	AC=3;AF=0.0046;aachange=V170V;homoplasmy=+;heteroplasmy=-;PubmedIDs=24456990;Disease=Peripheral-neuropathy-of-T2-diabetes;DiseaseStatus=Reported
MT	15257	.	G	A	.	.	AC=964;AF=1.4766;aachange=D171N;homoplasmy=+;heteroplasmy=-;PubmedIDs=8680405+1634041+1732158+8163275+8240104+8417984+7901141+8213820+1764087+8321540+1463007+8053461+8076942+7770132+7635294+7733466+7710535+7977345+7760326+7814218+7599218+9561330+9302261+9150158+9719386+10520236+8755941+11464242+11935318+12483296+12150954+18931934+11339587+23563965+30369864+15060117+8899049+16050984+18647627+10545708+10424809+8600429+21067478+21457906+32887465;Disease=LHON;DiseaseStatus=Conflicting-reports;HGFL=J2:830/99.88
MT	15287	.	T	C	.	.	AC=120;AF=0.1838;aachange=F181L;homoplasmy=-;heteroplasmy=+;PubmedIDs=17999439+32887465;Disease=Possible-DEAF-helper-mut.;DiseaseStatus=Reported|-hg-I6a-&-H10c-marker
MT	15301	.	G	A	.	.	AC=18375;AF=28.1454;aachange=L185L;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33420243+16331570;Disease=Possible-factor-in-high-altitude-sickness+-LHON;DiseaseStatus=Reported;HGFL=C1:953/100.00|C4:791/99.75|C5:218/100.00|C7:216/100.00|D1:520/99.81|D2:99/100.00|D3:45/100.00|D4:1741/99.66|D5:435/99.77|D6:34/100.00|E1:402/99.75|E2:93/100.00|G1:207/100.00|G2:357/99.17|G3:62/100.00|L2:1665/99.17|L3:2559/99.77|L4:133/100.00|L6:14/100.00|M1:312/100.00|M10:77/98.72|M11:43/100.00|M12:145/100.00|M13:77/100.00|M17:67/100.00|M18:32/94.12|M2:252/97.67|M20:82/100.00|M21:134/100.00|M22:13/100.00|M23:233/100.00|M24:63/100.00|M26:11/100.00|M27:158/100.00|M28:129/100.00|M29:25/100.00|M3:219/99.10|M30:155/98.10|M31:30/100.00|M32:165/99.40|M33:91/97.85|M34:11/100.00|M35:114/99.13|M36:40/100.00|M37:39/100.00|M38:28/100.00|M39:44/97.78|M4:33/91.67|M40:30/96.77|M41:12/100.00|M42:73/97.33|M44:12/100.00|M45:31/100.00|M46:16/100.00|M49:41/97.62|M5:241/96.79|M50:33/100.00|M51:75/100.00|M52:51/94.44|M53:27/100.00|M54:11/100.00|M55:14/100.00|M57:17/100.00|M6:40/95.24|M60:14/100.00|M61:26/100.00|M62:27/100.00|M65:56/100.00|M66:14/100.00|M68:35/100.00|M69:15/100.00|M7:1639/100.00|M70:13/100.00|M71:114/99.13|M72:22/100.00|M73:55/100.00|M74:136/100.00|M76:35/100.00|M8:111/100.00|M9:358/100.00|M91:25/100.00|Q1:680/100.00|Q2:72/100.00|Q3:88/100.00|Z1:114/100.00|Z3:125/99.21|Z4:39/97.50
MT	15324	.	C	G	.	.	AC=0;AF=0.0000;aachange=A193G;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=11853713;Disease=Possible-LHON-helper-(one-11778-patient);DiseaseStatus=Reported
MT	15347	.	C	T	.	.	AC=0;AF=0.0000;aachange=H201Y;homoplasmy=-;heteroplasmy=+;PubmedIDs=40241304;Disease=HCM-+LA-+elevated-CSF-lactate;DiseaseStatus=Reported
MT	15350	.	G	A	.	.	AC=0;AF=0.0000;aachange=E202K;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-sepsis-factor;DiseaseStatus=Reported
MT	15395	.	A	G	.	.	AC=3;AF=0.0046;aachange=K217E;homoplasmy=+;heteroplasmy=-;PubmedIDs=19022198;Disease=Possible-LHON-factor;DiseaseStatus=Reported
MT	15436	.	C	A	.	.	AC=3;AF=0.0046;aachange=L230L;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=23096691;Disease=Possible-role-in-high-altitude-sickness;DiseaseStatus=Reported
MT	15453	.	T	C	.	.	AC=12;AF=0.0184;aachange=L236P;homoplasmy=+;heteroplasmy=-;PubmedIDs=24667782;Disease=Isolated-complex-III-deficiency;DiseaseStatus=Reported
MT	15485	.	C	T	.	.	AC=0;AF=0.0000;aachange=P247S;homoplasmy=nr;heteroplasmy=nr;Disease=Suspected-mitochondrial-disorder;DiseaseStatus=Reported
MT	15497	.	G	A	.	.	AC=344;AF=0.5269;aachange=G251S;homoplasmy=+;heteroplasmy=-;PubmedIDs=12905068+15126279+15052619+21457906+17015183;Disease=EXIT-/-Obesity;DiseaseStatus=Reported;HGFL=G1:207/100.00
MT	15498	.	G	A	.	.	AC=35;AF=0.0536;aachange=G251D;homoplasmy=-;heteroplasmy=+;PubmedIDs=10960495+29253894+15126279+20064630+20111055+18848389+21457906+32652755;Disease=DEAF-/-Infantile-histiocytoid-cardiomyopathy;DiseaseStatus=Reported
MT	15579	.	A	G	.	.	AC=0;AF=0.0000;aachange=Y278C;homoplasmy=-;heteroplasmy=+;PubmedIDs=11601507+21457906+23376095+23418307+32652755;Disease=Multisystem-Disorder+-EXIT;DiseaseStatus=Cfrm-[VUS*]
MT	15615	.	G	A	.	.	AC=0;AF=0.0000;aachange=G290D;homoplasmy=-;heteroplasmy=+;PubmedIDs=8910895+8988236+21457906+32652755;Disease=EXIT-/-Antimycin-resistance;DiseaseStatus=Reported-[VUS]
MT	15620	.	C	A	.	.	AC=0;AF=0.0000;aachange=L292I;homoplasmy=-;heteroplasmy=+;PubmedIDs=24062162;Disease=Leigh-Syndrome-helper-mut;DiseaseStatus=Reported
MT	15635	.	T	C	.	.	AC=2;AF=0.0031;aachange=S297P;homoplasmy=+;heteroplasmy=+;PubmedIDs=19563916;Disease=Polyvisceral-failure-/-adult-Leigh-syndrome;DiseaseStatus=Reported
MT	15662	.	A	G	.	.	AC=212;AF=0.3247;aachange=I306V;homoplasmy=+;heteroplasmy=+;PubmedIDs=10894993;Disease=Complex-mitochondriopathy-associated;DiseaseStatus=Reported
MT	15674	.	T	C	.	.	AC=193;AF=0.2956;aachange=S310P;homoplasmy=+;heteroplasmy=-;PubmedIDs=17003408+21196529;Disease=LHON;DiseaseStatus=Reported;HGFL=R0:190/56.72
MT	15693	.	T	C	.	.	AC=774;AF=1.1856;aachange=M316T;homoplasmy=+;heteroplasmy=-;PubmedIDs=20211276;Disease=Possibly-LVNC-cardiomyopathy-associated;DiseaseStatus=Reported;HGFL=U4:769/98.97
MT	15699	.	G	C	.	.	AC=0;AF=0.0000;aachange=R318P;homoplasmy=-;heteroplasmy=+;PubmedIDs=23847141+16008558;Disease=Muscle-Weakness-SNHL-and-Migraine;DiseaseStatus=Reported
MT	15723	.	G	A	.	.	AC=0;AF=0.0000;aachange=W326Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=10502593;Disease=EXIT;DiseaseStatus=Reported
MT	15761	.	G	A	.	.	AC=0;AF=0.0000;aachange=G339Term;heteroplasmy=+;PubmedIDs=12686403;Disease=MM;DiseaseStatus=Reported
MT	15762	.	G	A	.	.	AC=0;AF=0.0000;aachange=G339E;homoplasmy=-;heteroplasmy=+;PubmedIDs=9818877;Disease=MM;DiseaseStatus=Reported
MT	15773	.	G	A	.	.	AC=83;AF=0.1271;aachange=V343M;homoplasmy=+;heteroplasmy=-;PubmedIDs=18216301;Disease=LHON;DiseaseStatus=Reported---possibly-synergistic
MT	15784	.	T	C	.	.	AC=2186;AF=3.3483;aachange=P346P;homoplasmy=+;heteroplasmy=-;PubmedIDs=24694284+27217714+24102601;Disease=POAG---potential-for-association;DiseaseStatus=Reported;HGFL=F3:216/67.29|H65:12/100.00|L2:1209/72.01|V13:12/100.00|W3:110/70.06|Z1:114/100.00|Z3:124/98.41|Z4:40/100.00
MT	15800	.	C	T	.	.	AC=0;AF=0.0000;aachange=Q352Term;homoplasmy=-;heteroplasmy=+;PubmedIDs=11731284+18977334;Disease=EXIT-/-Myopathy;DiseaseStatus=Reported
MT	15804	.	T	C	.	.	AC=39;AF=0.0597;aachange=V353A;homoplasmy=+;heteroplasmy=-;PubmedIDs=26566881+32652755;Disease=Fibromyalgia;DiseaseStatus=Reported
MT	15812	.	G	A	.	.	AC=527;AF=0.8072;aachange=V356M;homoplasmy=+;heteroplasmy=-;PubmedIDs=8680405+1634041+7901141+1764087+1463007+7770132+7635294+7977345+7599218+9561330+9150158+30369864+15060117+8899049+16050984+10894993+8600429+21067478+21457906+27217714+32887465;Disease=LHON;DiseaseStatus=Reported-/-Secondary
MT	15894	.	G	A	.	.	AC=42;AF=0.0643;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+29976239;Disease=Gout;DiseaseStatus=Reported
MT	15897	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+32083134;Disease=Maternally-inherited-diabetes-(MID);DiseaseStatus=Reported
MT	15901	.	A	G	.	.	AC=11;AF=0.0168;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	15902	.	A	G	.	.	AC=10;AF=0.0153;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	15904	.	C	T	.	.	AC=1024;AF=1.5685;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=37793469;Disease=Protective-factor-for-stroke-risk-(hg-V);DiseaseStatus=Reported;HGFL=V1:138/100.00|V10:28/100.00|V12:10/100.00|V13:12/100.00|V15:16/100.00|V16:19/100.00|V18:22/100.00|V2:51/100.00|V22:21/100.00|V25:29/100.00|V3:52/100.00|V5:12/100.00|V7:112/98.25|V8:16/100.00|V9:33/100.00
MT	15908	.	T	C	.	.	AC=277;AF=0.4243;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+16955413+19818876+22538251;Disease=DEAF-helper-mutation;DiseaseStatus=Reported;HGFL=M74:88/64.71
MT	15909	.	A	G	.	.	AC=6;AF=0.0092;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+29129694+27544295;Disease=Hypertension;DiseaseStatus=Reported
MT	15910	.	C	T	.	.	AC=34;AF=0.0521;homoplasmy=+;heteroplasmy=-;PubmedIDs=33289513+32169613+31842766;Disease=Tic-disorder-patient-/-hearing-loss-patient-/-coronary-heart-disease;DiseaseStatus=Reported
MT	15915	.	G	A	.	.	AC=1;AF=0.0015;homoplasmy=-;heteroplasmy=+;PubmedIDs=8769114+9367299+31965079+32970680;Disease=Encephalomyopathy;DiseaseStatus=Reported-[VUS]
MT	15923	.	A	G	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=+;PubmedIDs=1379415+1645537+8511015+22638997+30236074;Disease=LIMM-/-MERRF-/-mito-disease;DiseaseStatus=Cfrm-[LP]
MT	15924	.	A	G	.	.	AC=2294;AF=3.5138;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=1379415+2043137+1645537+10680807+16773565+27498855+31965079+37845428+36563715;Disease=LIMM-/-PCOS-patients;DiseaseStatus=Reported;HGFL=A15:46/58.23|I1:325/98.19|I2:239/100.00|I3:80/100.00|I4:143/94.70|I5:112/99.12|M13:53/68.83|M69:12/80.00
MT	15926	.	C	T	.	.	AC=9;AF=0.0138;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=23847141+32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	15927	.	G	A	.	.	AC=629;AF=0.9635;homoplasmy=+;heteroplasmy=-;PubmedIDs=9113500+10680807+23563965+23736300+26782414+31965079+8899049+18386806+18820594+19818876+24470521+29225014+30541130+30854964+18930888+22538251+33552719+34053002+34120304+34991096+37845428;Disease=LHON-/-Multiple-Sclerosis-/-DEAF1555-increased-penetrance-/-CHD;DiseaseStatus=Reported
MT	15928	.	G	A	.	.	AC=3306;AF=5.0639;homoplasmy=+;heteroplasmy=+;PubmedIDs=9113500+10377009+10680807+16773565+23563965+31965079+8899049;Disease=Multiple-Sclerosis-/-idiopathic-repeat-miscarriage-/-AD-protection;DiseaseStatus=Reported;HGFL=M35:64/55.65|T1:857/99.88|T2:2201/99.46|Z3:69/54.76
MT	15930	.	G	A	.	.	AC=1366;AF=2.0923;homoplasmy=+;heteroplasmy=-;PubmedIDs=32400865+36563715;Disease=Possible-DEAF-risk-factor-/-PCOS-patients;DiseaseStatus=Reported
MT	15933	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=+;heteroplasmy=-;PubmedIDs=28187756;Disease=Suspected-mito-disease;DiseaseStatus=Reported
MT	15942	.	T	C	.	.	AC=453;AF=0.6939;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+20211276;Disease=Possibly-LVNC-associated;DiseaseStatus=Reported
MT	15943	.	TT	T	.	.	AC=938;AF=1.4368;homoplasmy=+;heteroplasmy=-;PubmedIDs=9832049+31965079+18178636;Disease=MM;DiseaseStatus=Conflicting-reports
MT	15948	.	A	G	.	.	AC=8;AF=0.0123;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33289513;Disease=Reported-in-tic-disorder-patient;DiseaseStatus=Reported
MT	15950	.	G	A	.	.	AC=4;AF=0.0061;homoplasmy=+;heteroplasmy=+;PubmedIDs=31965079+10369889+33289513+35808913;Disease=LHON-/-LHON-MS-/-dopaminergic-nerve-cell-death-(PD)-/-tic-disorder;DiseaseStatus=Reported
MT	15951	.	A	G	.	.	AC=424;AF=0.6495;homoplasmy=+;heteroplasmy=-;PubmedIDs=19022198+23563965+31965079+16624503+26000946+21983721+29387390+33552719+34053002+34120304;Disease=LHON-/-LHON-modulator;DiseaseStatus=Conflicting-reports;HGFL=D3:45/100.00
MT	15952	.	C	T	.	.	AC=6;AF=0.0092;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=33289513;Disease=Reported-in-tic-disorder-patient;DiseaseStatus=Reported
MT	15954	.	A	G	.	.	AC=91;AF=0.1394;homoplasmy=+;heteroplasmy=+;Disease=Maternally-inherited-DM2;DiseaseStatus=Reported;HGFL=M40:31/100.00
MT	15958	.	A	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=32419253+27816331;Disease=Severe-myopathy-/-EXIT;DiseaseStatus=Reported-[VUS]
MT	15965	.	A	G	.	.	AC=12;AF=0.0184;homoplasmy=+;heteroplasmy=-;PubmedIDs=31965079+10369889;Disease=Dopaminergic-nerve-cell-death-(PD);DiseaseStatus=Reported
MT	15967	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+19273760+19718780;Disease=MERRF-like-disease;DiseaseStatus=Reported-[VUS]
MT	15975	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=19223931;Disease=Ataxia+RP+deafness;DiseaseStatus=Reported
MT	15986	.	G	GG	.	.	AC=0;AF=0.0000;PubmedIDs=33552719+31743754+32991883;Disease=LHON-modulator;DiseaseStatus=Reported
MT	15990	.	C	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=8190311+7689388+9421512+19718780+32305257;Disease=MM-/-PEO;DiseaseStatus=Cfrm-[LP]
MT	15992	.	A	G,T	.	.	AC=5,1;AF=0.0077,0.0015;homoplasmy=nr,+;heteroplasmy=nr,-;PubmedIDs=33289513+32169613+34346491,32802947;Disease=Maternally-inherited-hypertension-/-tic-disorder-patient-/-hearing-loss-patient,Exercise-induced-muscle-swelling-and-fatigue;DiseaseStatus=Reported,Reported
MT	15995	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=12406974+31965079+12400067;Disease=Mitochondrial-cytopathy;DiseaseStatus=Reported
MT	15997	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=32169613;Disease=Hearing-loss-patient;DiseaseStatus=Reported
MT	15998	.	A	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=27536729;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported
MT	16002	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+11196116;Disease=Mitochondrial-cytopathy;DiseaseStatus=Reported-[VUS]
MT	16015	.	T	C	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=27536729;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported
MT	16018	.	T	TTCTCTGTTCTTTCAT	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=31965079+22954281;Disease=Dilated-cardiomyopathy-(15-bp-dup)+-alternate-notation;DiseaseStatus=Reported
MT	16020	.	TCT	T	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=27536729;Disease=Mitochondrial-myopathy;DiseaseStatus=Reported
MT	16023	.	G	A	.	.	AC=0;AF=0.0000;homoplasmy=-;heteroplasmy=+;PubmedIDs=23696415+34969639+30876822+40241304;Disease=Migraine-/pigmentary-retinopathy-/deafness-/leukoarilosis|-seizures-/-failure-to-thrive+-neutropenia-/anemia;DiseaseStatus=Reported
MT	16032	.	T	TTCTCTGTTCTTTCAT	.	.	AC=2;AF=0.0031;homoplasmy=-;heteroplasmy=+;PubmedIDs=22954281;Disease=Dilated-cardiomyopathy-(15-bp-dup)+-alternate-notation;DiseaseStatus=Reported
MT	16051	.	A	G	.	.	AC=1666;AF=2.5518;aachange=noncoding;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31824475+32513025;Disease=Possible-susceptibility-to-bullous-pemphigoid-/-PCOS-patients;DiseaseStatus=Reported;HGFL=B6:39/55.71|E2:93/100.00|M53:27/100.00|U2:565/96.42|U9:14/58.33
MT	16081	.	A	G	.	.	AC=2;AF=0.0031;aachange=noncoding;homoplasmy=-;heteroplasmy=+;PubmedIDs=15368478+32513025;Disease=Cyclic-Vomiting-Syndrome/-PCOS-patients;DiseaseStatus=Reported
MT	16093	.	T	C	.	.	AC=3795;AF=5.8129;aachange=noncoding;homoplasmy=-;heteroplasmy=+;PubmedIDs=15368478+31143779+37798736;Disease=Cyclic-Vomiting-Syndrome-/-Increased-risk-of-breast-cancer;DiseaseStatus=Reported;HGFL=A11:23/57.50|C5:133/61.01|H34:8/57.14|H52:14/63.64
MT	16129	.	G	A	.	.	AC=8834;AF=13.5312;aachange=noncoding;homoplasmy=-;heteroplasmy=+;PubmedIDs=15368478;Disease=Cyclic-Vomiting-Syndrome-with-Migraine;DiseaseStatus=Reported;HGFL=D2:99/100.00|F1:1077/74.12|H17:62/87.32|H27:96/90.57|I1:314/94.86|I2:226/94.56|I3:78/97.50|I4:148/98.01|I5:110/97.35|L0:925/53.28|L1:562/55.26|L5:54/96.43|M1:264/84.62|M12:96/66.21|M20:82/100.00|M28:117/90.70|M5:238/95.58|M50:26/78.79|M91:18/72.00|N11:14/63.64|N7:15/100.00|Q1:673/98.97|Q2:72/100.00|Q3:83/94.32|R6:25/78.12|Z1:108/94.74
MT	16162	.	A	G	.	.	AC=1203;AF=1.8427;aachange=noncoding;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31824475;Disease=Possible-susceptibility-to-bullous-pemphigoid;DiseaseStatus=Reported
MT	16176	.	C	T	.	.	AC=755;AF=1.1565;aachange=noncoding;homoplasmy=-;heteroplasmy=+;PubmedIDs=15368478+32513025;Disease=Cyclic-Vomiting-Syndrome-with-Migraine-/-PCOS-patient;DiseaseStatus=Reported;HGFL=M4:19/52.78|P1:407/87.90
MT	16183	.	A	C	.	.	AC=8405;AF=12.8741;aachange=noncoding;homoplasmy=nr;heteroplasmy=+;PubmedIDs=22174736;Disease=Melanoma-patients;DiseaseStatus=Reported;HGFL=B2:1069/92.08|B4:2647/79.25|B5:665/77.96|B6:69/98.57|D5:246/56.42|M1:197/63.14|M29:21/84.00|M53:19/70.37|M76:25/71.43|N10:27/84.38|R11:53/84.13|U1:145/63.04|U2:304/51.88|X1:14/70.00|X3:15/68.18
MT	16188	.	C	CC	.	.	AC=30;AF=0.0460;aachange=noncoding;homoplasmy=-;heteroplasmy=+;PubmedIDs=33504965;Disease=Possible-association-with-sepsis;DiseaseStatus=Reported
MT	16189	.	T	C	.	.	AC=16039;AF=24.5673;aachange=noncoding;homoplasmy=+;heteroplasmy=-;PubmedIDs=9820026+12045211+12421439+11418155+9498630+15880407+12872259+16271646+15972579+16892079+19397801+23702607+16142453+18679013+21146361+23465694+12147150+17066297+17390150+22281886+22174736+11472454+16784794+21298061+17535991+16331560+15965046+11798951+17032725+16414144+18251004+29182103+29765483;Disease=Diabetes-/-Cardiomyopathy-/cancer-risk-/-mtDNA-copy-nbr-/-Metabolic-Syndrome-/-Melanoma-patients;DiseaseStatus=Reported;HGFL=A12:12/92.31|B2:1113/95.87|B4:2936/87.90|B5:738/86.52|B6:70/100.00|D5:352/80.73|D6:22/64.71|H55:24/77.42|HV18:12/100.00|L0:1555/89.57|L1:946/93.02|L5:31/55.36|M1:247/79.17|M29:25/100.00|M45:22/70.97|M53:25/92.59|M54:8/72.73|M76:34/97.14|N10:26/81.25|N3:22/100.00|R11:58/92.06|T1:771/89.86|U1:166/72.17|U2:377/64.33|V9:17/51.52|X1:18/90.00|X2:580/88.96|X3:21/95.45|Y1:103/68.67
MT	16192	.	C	T	.	.	AC=2845;AF=4.3577;aachange=noncoding;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=22174736+32513025;Disease=Melanoma-patients-/-PCOS-patients;DiseaseStatus=Reported;HGFL=M54:9/81.82|U5:1324/51.96|W6:90/77.59
MT	16217	.	T	C	.	.	AC=4682;AF=7.1715;aachange=noncoding;homoplasmy=+;heteroplasmy=-;PubmedIDs=29124462;Disease=Endometriosis;DiseaseStatus=Reported;HGFL=B2:1132/97.50|B4:3283/98.29|HV2:74/100.00|M55:14/100.00|N3:20/90.91
MT	16263	.	T	C	.	.	AC=624;AF=0.9558;aachange=noncoding;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=31824475;Disease=Possible-susceptibility-to-bullous-pemphigoid;DiseaseStatus=Reported;HGFL=M23:223/95.71|M50:33/100.00|N8:20/95.24
MT	16270	.	C	T	.	.	AC=3206;AF=4.9107;aachange=noncoding;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=22174736+32513025;Disease=Melanoma-patients-/-PCOS-patients;DiseaseStatus=Reported;HGFL=N11:14/63.64|U5:2305/90.46
MT	16298	.	T	C	.	.	AC=4272;AF=6.5435;aachange=noncoding;homoplasmy=nr;heteroplasmy=nr;PubmedIDs=37793469;Disease=Protective-factor-for-stroke-risk-(hg-V);DiseaseStatus=Reported;HGFL=C1:902/94.65|C4:777/97.98|C5:214/98.17|C7:209/96.76|F3:318/99.07|HV0:219/82.95|M8:106/95.50|V1:127/92.03|V10:28/100.00|V12:10/100.00|V13:12/100.00|V15:15/93.75|V16:19/100.00|V18:21/95.45|V2:49/96.08|V22:21/100.00|V25:27/93.10|V3:52/100.00|V5:12/100.00|V7:97/85.09|V8:14/87.50|Z1:112/98.25|Z3:124/98.41|Z4:39/97.50
MT	16300	.	A	G	.	.	AC=338;AF=0.5177;aachange=noncoding;homoplasmy=+;heteroplasmy=-;PubmedIDs=19290059+20837494;Disease=BD-associated;DiseaseStatus=Reported;HGFL=M45:21/67.74|M46:8/50.00
MT	16318	.	A	C	.	.	AC=117;AF=0.1792;aachange=noncoding;homoplasmy=nr;heteroplasmy=nr;Disease=Non-alcoholic-steatohepatitis---potential-for-association;DiseaseStatus=Reported
MT	16390	.	G	A	.	.	AC=3614;AF=5.5356;aachange=noncoding;homoplasmy=+;heteroplasmy=-;PubmedIDs=24694284+27217714+24102601;Disease=POAG---potential-for-association;DiseaseStatus=Reported;HGFL=E1:401/99.50|E2:93/100.00|L2:1599/95.24|M52:33/61.11|R22:36/59.02|R9:140/56.45
MT	16519	.	T	T	.	.	AC=24944;AF=38.2073;aachange=noncoding;homoplasmy=+;heteroplasmy=-;PubmedIDs=19368653+25332060+19220304+22174736;Disease=Cyclic-Vomiting-Syndrome-with-Migraine-/metastasis;DiseaseStatus=Reported