MITOMAP: mtDNA Somatic Mutations

Last Edited: Dec 30, 2021

Locus	Nucleotide Position	Nucleotide Change	Amino Acid Change	Homo-plasmy	Hetero-Plasmy	Cell or Tissue type	Note	References
1	MT-ATT,MT-CR,MT-7SDNA	G-C	Control Region	+	-	prostate tumor	.	2
52	MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	+	-	ovarian tumor	.	1
73	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	+	+	aging brains, POLG/PEO & control muscle, buccal cell, thyroid & prostate tumors	.	7
94	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	+	-	prostate tumor, normal tissues	.	3
98	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	C-del	Control Region	+	-	thyroid tumor	deletion	1
106	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	+	-	prostate tumor	.	2
107	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	G-del	Control Region	+	-	thyroid tumor	deletion	1
115	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	+	-	thyroid tumor	.	2
146	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	+	+	elderly fibroblasts, elderly/AD brains, POLG/PEO & control muscle, various tumors	.	7
150	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	+	elderly fibroblasts/leukocytes, lung, thyroid, prostate tumors	.	8
152	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	+	+	elderly brains, elderly fibroblasts, ovarian carcinoma, breast tumor	.	5
185	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	+	+	POLG/PEO muscle, thyroid tumor, glioblastoma	.	5
193	MT-HV2,MT-OHR,MT-ATT,MT-CR	A-G	Control Region	+	-	endometrial tumor	.	1
195	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-C	Control Region	+	+	elderly fibroblasts, elderly/AD brains, tumors: lung, thyroid, ovarian, prostate, glioblastoma	.	10
199	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-C	Control Region	+	+	ovarian carcinoma, POLG/MNGIE muscle	.	4
203	MT-HV2,MT-OHR,MT-ATT,MT-CR	G-A	Control Region	+	-	breast tumor, normal tissues	.	2
204	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-C	Control Region	+	+	various tumors / POLG	.	7
204	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-G	Control Region	+	-	LHON fibroblasts	.	2
205	MT-HV2,MT-OHR,MT-ATT,MT-CR	G-A	Control Region	+	-	gastric carcinoma	.	1
207	MT-HV2,MT-OHR,MT-ATT,MT-CR	G-A	Control Region	+	+	oral, prostate & thyroid tumors / OPA1 defect	.	6
215	MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR	A-G	Control Region	+	-	esophageal cancer / POLG defect	.	2
235	MT-HV2,MT-OHR,MT-CSB1,MT-TFX,MT-ATT,MT-CR	A-G	Control Region	+	-	prostate tumor / POLG and OPA1 patients	.	3
244	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	A-del	Control Region	+	+	prostate tumor	deletion	2
249	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	A-del	Control Region	+	-	ovarian control tissue	deletion	1
303:315	MT-HV2,MT-OHR,MT-TFY,MT-CSB2,MT-ATT,MT-CR	C(7-8)TC(5)	Control Region	+	+	D310 / multiple tumor types	highly variable C tract "D310" insertion deletion	22
310	MT-HV2,MT-OHR,MT-CSB2,MT-ATT,MT-CR	T-C	Control Region	+	+	normal buccal swab	.	2
310	MT-HV2,MT-OHR,MT-CSB2,MT-ATT,MT-CR	T-del	Control Region	+	-	breast tumor	deletion	1
315	MT-HV2,MT-OHR,MT-CSB2,MT-ATT,MT-CR	C-T	Control Region	+	+	POLG/PEO muscle, prostate tumor	.	3
316	MT-HV2,MT-OHR,MT-ATT,MT-CR	G-CG	(= 315 C-CC)	+	.	oral cancer	insertion	4
317	MT-HV2,MT-OHR,MT-HPR,MT-ATT,MT-CR	C-T	Control Region	+	-	ovarian tumor	.	1
325	MT-HV2,MT-OHR,MT-ATT,MT-CR	C-T	Control Region	+	-	thyroid tumor	.	2
375	MT-OHR,MT-4H,MT-ATT,MT-CR	C-CC	Control Region	+	-	colonic crypts	insertion	1
385	MT-OHR,MT-3H,MT-ATT,MT-CR	A-G	Control Region	+	-	Twinkle/PEO frontal cortex / control sample	.	2
396	MT-OHR,MT-LSP,MT-ATT,MT-CR	A-G	Control Region	+	-	pituitary oncocytoma	.	1
456	MT-HV3,MT-ATT,MT-CR	C-T	Control Region	+	-	thyroid tumor	.	2
460	MT-HV3,MT-ATT,MT-CR	T-C	Control Region	+	+	elderly Down's Syndrome fibroblasts, thyroid tumor	.	3
462	MT-HV3,MT-ATT,MT-CR	C-T	Control Region	+	-	thyroid tumor	.	2
481	MT-HV3,MT-ATT,MT-CR	C-T	Control Region	+	-	thyroid tumor	.	2
489	MT-HV3,MT-ATT,MT-CR	T-C	Control Region	+	+	ovarian carcinoma, prostate tumor	.	3
497	MT-HV3,MT-ATT,MT-CR	C-T	Control Region	+	-	thyroid tumor	.	2
499	MT-HV3,MT-ATT,MT-CR	G-A	Control Region	+	-	thyroid & prostate tumors	.	3
514	MT-HV3,MT-CR	C-CCG	Control Region	+	-	head/neck tumor	insertion	1
514:523	MT-HV3,MT-TFH,MT-CR	(CA)(5-7)	Control Region	+	+	ovarian carcinoma & control tissue, thyroid, prostate & breast tumors	variable CA repeat region insertion deletion	5
549	MT-HV3,MT-TFH,MT-HSP1,MT-CR	C-T	Control Region	+	-	thyroid tumor	.	2
559	MT-HV3,MT-HSP1,MT-CR	C-T	Control Region	+	+	Twinkle/PEO skeletal muscle, pituitary oncocytoma	.	2
565	MT-HV3,MT-HSP1,MT-CR	A-G	Control Region	+	-	ovarian tumor	.	1
573	MT-HV3,MT-CR	C-CCC	Control Region	+	-	multiple tumor types	insertion	3
586	MT-TF	G-A	tRNA	+	+	colonic crypts, ovarian tumor	.	2
664	MT-RNR1	G-A	rRNA	+	-	ovarian carcinoma, breast tumor	.	3
687	MT-RNR1	G-A	rRNA	+	-	pancreatic cancer cell line	.	1
710	MT-RNR1	T-C	rRNA	+	-	colorectal tumor	.	2
943	MT-RNR1	G-A	rRNA	+	-	colonic crypts	.	1
1097	MT-RNR1	G-A	rRNA	+	-	colonic crypts	.	1
1243	MT-RNR1	T-C	rRNA	+	-	pancreatic cancer cell line	.	1
1289	MT-RNR1	G-C	rRNA	+	-	colonic crypts	.	1
1401	MT-RNR1	G-A	rRNA	+	-	ovarian carcinoma	.	2
1406	MT-RNR1	T-C	rRNA	+	-	pancreatic cancer cell line	.	1
1676	MT-RNR2	A-G	rRNA	+	-	pancreatic cancer cell line	.	1
1721	MT-RNR2	C-T	rRNA	+	+	acute leukemia platelets, leukocytes & bone marrow	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	1
1738	MT-RNR2	T-C	rRNA	+	-	colorectal tumor	.	2
1811	MT-RNR2	A-G	rRNA	+	-	head/neck tumor	.	2
1952	MT-RNR2	T-C	rRNA	+	-	ovarian carcinoma	.	2
2015	MT-RNR2	G-A	rRNA	+	-	pancreatic cancer cell line	.	1
2056	MT-RNR2	G-A	rRNA	+	+	bladder tumor, acute leukemia platelets/leukocytes/bone marrow	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	3
2222	MT-RNR2	T-C	rRNA	+	-	pancreatic cancer cell line	.	1
2445	MT-RNR2	T-C	rRNA	+	-	bladder tumor	.	2
2664	MT-RNR2,MT-Hum	T-C	rRNA	+	-	lung tumor	.	2
2805	MT-RNR2	A-T	rRNA	+	-	pancreatic cancer cell line xenograf, MNGIE fibroblasts	.	2
2905	MT-RNR2	A-G	rRNA	+	-	pancreatic cancer cell line	.	1
2923	MT-RNR2	G-A	rRNA	+	-	prostate tumor	.	2
2998	MT-RNR2	T-TT	rRNA	+	-	lung tumor	insertion	1
3014	MT-RNR2	G-A	rRNA	+	-	colonic crypts	.	1
3054	MT-RNR2	G-A	rRNA	+	-	bladder tumor	.	2
3243	MT-TER,MT-TL1	A-G	tRNA	+	+	elderly brain, elderly muscle, colon tumor, oncocytoma	.	6
3244	MT-TER,MT-TL1	G-A	tRNA	+	+	elderly brain,gastric carcinoma, lung tumor, thyroid oncocytoma	.	4
3308	MT-ND1	T-C	M-T	+	-	colorectal tumor	.	2
3357	MT-ND1	G-A	M-M	+	-	prostate tumor	.	2
3394	MT-ND1	T-C	Y-H	+	+	acute leukemia platelets, leukocytes & bone marrow, various tumors	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	2
3398	MT-ND1	T-C	M-T	+	-	colon cancer	.	1
3421	MT-ND1	G-A	V-I	+	-	pancreatic cancer cell line	.	1
3434	MT-ND1	A-G	Y-C	+	-	prostate tumor	.	2
3480	MT-ND1	A-G	K-K	+	-	prostate tumor	.	2
3497	MT-ND1	C-T	A-V	+	-	adenocarcinoma, squamous cell carcinoma, colon cancer, lung cancer		1
3505	MT-ND1	A-G	T-A	+	-	pancreatic cancer cell line, prostate tumor	.	3
3526	MT-ND1	G-A	A-T	+	-	thyroid tumor	.	2
3571	MT-ND1	C-del	frameshift	+	-	oncocytoma	deletion	1
3594	MT-ND1	C-T	V-V	+	-	thyroid tumor	.	2
3654	MT-ND1	C-T	I-I	+	-	pancreatic cancer cell line	.	1
3670	MT-ND1	G-A	A-T	+	-	pancreatic cancer cell line xenograft / endometrial tumor	.	2
3689	MT-ND1	C-G	A-G	+	+	adenocarcinoma, colon cancer, lung cancer		1
3709	MT-ND1	G-A	A-T	+	+	adenocarcinoma, lung cancer		1
3910	MT-ND1	G-A	E-K	+	-	thyroid tumor	.	2
3922	MT-ND1	G-A	E-K	+	-	various tumors	.	2
3955	MT-ND1	G-A	A-T	+	+	adenocarcinoma, colon cancer		1
3992	MT-ND1	C-T	T-M	+	-	thyroid tumor	.	2
4188	MT-ND1	A-G	L-L	+	-	breast cyst	.	1
4216	MT-ND1	T-C	Y-H	+	+	acute leukemia platelets, leukocytes & bone marrow	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	1
4296	MT-TI	G-A	tRNA	+	-	pituitary oncocytoma	.	1
4312	MT-TI	C-T	tRNA	+	-	thyroid tumor	.	2
4399	MT-TQ	T-C	tRNA	+	-	colonic crypts	.	1
4550	MT-ND2	T-C	F-F	+	-	colonic crypts	.	1
4580	MT-ND2	G-A	M-M	+	-	pancreatic cancer cell line	.	1
4613	MT-ND2	A-G	M-M	+	-	thyroid tumor	.	2
4646	MT-ND2	T-C	Y-Y	+	-	glioblastoma	.	1
4811	MT-ND2	A-G	W-W	+	-	pancreatic cancer cell line	.	1
4831	MT-ND2	G-A	G-D	+	+	oncocytomas	.	3
4940	MT-ND2	C-T	L-L	+	-	thyroid tumor	.	2
4985	MT-ND2	A-G	Q-Q	+	-	thyroid tumor	.	2
5132:5135	MT-ND2	AA-del	frameshift	+	-	skeletal muscle - myopathy	deletion	3
5140	MT-ND2	G-A	S-N	+	-	colonic crypts	.	1
5198	MT-ND2	A-G	L-L	+	-	glioblastoma	.	1
5212	MT-ND2	T-C	L-P	+	-	endometrial tumor	.	1
5231	MT-ND2	G-A	L-L	+	-	endometrium control tissue	Normal in paired tumor tissue	1
5251	MT-ND2	T-del	frameshift	+	-	parotid oncocytoma	deletion	1
5260	MT-ND2	G-A	W-Ter	+	-	parotid oncocytoma	.	1
5298	MT-ND2	A-G	I-V	+	-	papillary thyroid carcinoma	.	1
5411	MT-ND2	A-del	frameshift	+	-	papillary thyroid carcinoma	deletion	1
5521	MT-TW	G-A	tRNA	+	-	lung tumor, oncocytoma	.	3
5633	MT-TA	C-T	tRNA	+	-	thyroid tumor	.	2
5843	MT-TY	A-G	tRNA	+	+	acute leukemia platelets, leukocytes & bone marrow	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	1
5892	MT-NC5	T-C	Control Region	+	-	colonic crypts	.	1
5918	MT-CO1	T-C	R-R	+	-	pancreatic cancer cell line	.	1
5920	MT-CO1	G-A	W-Ter	+	-	skeletal muscle - myopathy	.	1
5958	MT-CO1	T-C	Y-H	+	-	colonic crypt clone		1
5973	MT-CO1	G-A	A-T	+	-	pancreatic cancer cell line	.	1
5999	MT-CO1	T-C	A-A	+	-	pancreatic cancer cell line, glioblastoma	.	2
6047	MT-CO1	A-G	L-L	+	-	pancreatic cancer cell line, glioblastoma	.	2
6129	MT-CO1	G-A	G-Ter	+	+	endometrial tumor, renal oncocytoma	.	2
6146	MT-CO1	A-G	W-W	+	-	pancreatic cancer cell line	.	1
6264	MT-CO1	G-A	G-Ter	+	-	colorectal tumor	.	1
6267	MT-CO1	G-A	A-T	+	-	pancreatic cancer cell line	.	1
6277	MT-CO1	G-A	G-D	+	-	colonic crypts	.	2
6473	MT-CO1	C-T	I-I	+	-	thyroid tumor	.	2
6650	MT-CO1	A-C	P-P	+	-	thyroid tumor	.	2
6698	MT-CO1	A-del	frameshift	+	-	colonic crypts	deletion	1
6776	MT-CO1	T-C	H-H	+	-	breast cystic masses	.	1
6849	MT-CO1	A-G	T-A	+	+	lymphoblast cell line	.	1
6869	MT-CO1	C-T	S-S	+	-	pancreatic cancer cell line	.	1
6937	MT-CO1	T-C	I-T	+	-	colonic crypts	.	1
7053	MT-CO1	G-A	G-Ter	+	-	colonic crypts	.	1
7065	MT-CO1	G-A	A-T	+	-	colonic crypts	.	1
7090	MT-CO1	G-A	W-Ter	+	-	colonic crypts	.	1
7103	MT-CO1	C-T	F-F	+	-	thyroid tumor	.	2
7151	MT-CO1	C-T	I-I	+	-	pancreatic cancer cell line	.	1
7275	MT-CO1	T-C	S-P	+	-	colonic crypts	.	1
7476	MT-TS1	C-T	tRNA	+	-	thyroid hyperplasia	.	1
7521	MT-TD	G-A	tRNA	+	-	thyroid tumor	.	2
7627:8195	MT-CO2	[AGCT](569)	stop codon	+	-	thyroid tumor	deletion	1
7631:8203	MT-CO2	[AGCT](569)	del 191 aa	+	-	thyroid tumor	deletion	1
7775	MT-CO2	G-A	V-I	+	+	colonic crypts, thyroid tumor	.	2
7785	MT-CO2	T-C	I-T	+	-	thyroid tumor	.	2
7819	MT-CO2	C-A	L-L	+	-	thyroid tumor	.	2
7873	MT-CO2	C-T	T-T	+	-	thyroid tumor	.	2
7901	MT-CO2	T-C	W-R	+	-	colonic crypts	.	1
7986	MT-CO2	G-T	R-L	+	-	pancreatic cancer cell line	.	1
8009	MT-CO2	G-A	V-M	+	-	colorectal tumor	.	3
8154	MT-CO2	G-A	G-E	+	-	colonic crypts	.	1
8545	MT-ATP8,MT-ATP6	G-A	ATP8:S-S ATP6:A-T	+	-	endometrial tumor	.	1
8557	MT-ATP8,MT-ATP6	G-A	ATP8:L-L ATP6:A-T	+	-	colonic crypts	.	1
8572	MT-ATP8,MT-ATP6	G-A	ATP8:Ter-Ter ATP6:G-S	+	-	colonic crypts, hyperplastic thyroid nodule	.	1
8617	MT-ATP6	A-G	I-V	+	+	acute leukemia platelets, leukocytes & bone marrow	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	1
8696	MT-ATP6	T-C	M-T	+	-	pancreatic cancer cell line	.	1
8697	MT-ATP6	G-A	M-M	+	-	thyroid tumor	.	2
8701	MT-ATP6	A-G	T-A	+	-	thyroid tumors	.	3
8706	MT-ATP6	A-G	M-M	+	-	thyroid tumor	.	2
8716	MT-ATP6	A-G	K-E	+	-	thyroid tumor	.	2
8803	MT-ATP6	A-G	T-A	+	-	head/neck tumor	.	1
9030	MT-ATP6	C-T	H-H	+	-	thyroid tumor	.	2
9070	MT-ATP6	T-G	S-A	+	-	pancreatic cancer cell line	.	1
9078	MT-ATP6	T-C	I-I	+	-	pancreatic cancer cell line	.	1
9137	MT-ATP6	T-C	I-T	+	-	thyroid tumor	.	2
9254	MT-CO3	A-G	W-W	+	-	pancreatic cancer cell line	.	1
9296	MT-CO3	C-T	G-G	+	-	thyroid tumor	.	2
9368	MT-CO3	A-G	M-M	+	-	pancreatic cancer cell line	.	1
9477	MT-CO3	G-T	V-F	+	-	thyroid tumor	.	2
9477	MT-CO3	G-A	V-I	+	-	thyroid tumor	.	3
9489	MT-CO3	G-A	A-T	+	-	colonic crypts	.	1
9537	MT-CO3	C-CC	frameshift	+	-	colonic crypts	insertion	1
9537	MT-CO3	C-del	frameshift	+	-	colonic crypts	deletion	1
9544	MT-CO3	G-A	G-E	+	-	colonic crypts / OPA1 sample	.	2
9547	MT-CO3	G-A	G-E	+	-	cloned platelet mtDNA	.	1
9575	MT-CO3	G-C	P-P	+	-	thyroid tumor	.	2
9655	MT-CO3	G-A	S-N	+	-	thyroid tumor	.	2
9691	MT-CO3	C-T	A-V	+	-	thyroid tumor	.	2
9746	MT-CO3	G-A	E-E	+	-	thyroid tumor	.	2
9774	MT-CO3	G-A	D-N	+	-	colonic crypts	.	1
9804	MT-CO3	G-A	A-T	+	-	pancreatic cancer cell line	.	1
9942	MT-CO3	G-A	D-N	+	-	endometrial tumor	.	1
9948	MT-CO3	G-A	V-I	+	-	papillary thyroid carcinoma, colorectal tumor	.	2
10071	MT-ND3	T-C	L-L	+	-	bladder tumor	.	2
10176	MT-ND3	G-A	G-S	+	-	pancreatic cancer cell line	.	1
10181	MT-ND3	C-T	F-F	+	-	thyroid tumor	.	2
10197	MT-ND3	G-C	A-P	+	-	thyroid tumor	.	2
10269	MT-ND3	C-T	L-F	+	-	thyroid tumor	.	2
10272	MT-ND3	C-T	L-F	+	-	thyroid tumor	.	2
10290	MT-ND3	G-A	A-T	+	-	endometrial tumor	.	1
10320	MT-ND3	G-A	V-I	+	-	thyroid tumor	.	2
10321	MT-ND3	T-C	V-A	+	-	bladder tumor	.	2
10363	MT-ND3	T-C	L-P	+	+	adenocarcinoma, lung cancer		1
10398	MT-ND3	A-G	T-A	+	-	various tumors	.	4
10463	MT-TR	T-C	tRNA	+	-	endometrium tumor	.	1
10550	MT-ND4L	A-G	M-M	+	-	endometrium control tissue	Normal in paired tumor tissue	1
10551	MT-ND4L	T-C	S-P	+	-	endometrium tumor	.	1
10563	MT-ND4L	T-C	C-R	+	-	colorectal tumor	.	3
10591	MT-ND4L	T-C	F-S	+	-	colonic crypts	.	1
10608	MT-ND4L	A-G	M-V	+	-	endometrial tumor	.	1
10639	MT-ND4L	A-G	N-S	+	-	thyroid tumor	.	2
10640	MT-ND4L	T-C	N-N	+	-	endometrium tumor	.	1
10691	MT-ND4L	C-G	G-G	+	-	thyroid tumor	.	2
10715	MT-ND4L	C-T	S-S	+	-	pancreatic cancer cell line	.	1
10792	MT-ND4	A-G	L-L	+	-	bladder tumor	.	2
10793	MT-ND4	C-T	L-L	+	-	thyroid tumor, bladder tumor	.	3
10822	MT-ND4	C-T	H-H	+	-	bladder tumor, head/neck tumor	.	2
10952	MT-ND4	C-CC	frameshift	+	-	oncocytoma	insertion	3
10970	MT-ND4	T-C	W-R	+	-	pancreatic cancer cell line	.	1
10978	MT-ND4	A-G	L-L	+	-	bladder tumor	.	2
11009	MT-ND4	T-C	L-L	+	-	pancreatic cancer cell line	.	2
11016	MT-ND4	G-A	S-N	+	-	thyroid tumor	.	1
11065	MT-ND4	A-G	L-L	+	-	bladder tumor	.	2
11126	MT-ND4	G-A	E-K	+	-	papillary thyroid carcinoma	.	1
11150	MT-ND4	G-A	A-T	+	-	head/neck tumor	.	2
11152	MT-ND4	T-C	A-A	+	-	pancreatic cancer cell line	.	1
11237	MT-ND4	C-CC	frameshift	+	-	pituitary oncocytoma	insertion	1
11332	MT-ND4	C-T	A-A	+	-	thyroid tumor	.	2
11409	MT-ND4	C-T	P-L	+	+	adenocarcinoma, lung cancer		1
11475	MT-ND4	G-A	G-D	+	-	oncocytomas	.	1
11518	MT-ND4	G-A	L-L	+	-	bladder tumor	.	2
11534	MT-ND4	T-C	Y-H	+	-	endometrial tumor	.	1
11674	MT-ND4	C-T	T-T	+	-	pancreatic cancer cell line, prostate tumor	.	3
11703	MT-ND4	T-C	L-P	+	-	pancreatic cancer cell line	.	1
11781	MT-ND4	T-C	I-T	+	-	pancreatic cancer cell line, MNGIE fibroblasts	.	2
11840	MT-ND4	C-T	L-L	+	-	thyroid tumor	.	2
11947	MT-ND4	A-G	T-T	+	-	prostate tumor	.	2
11974	MT-ND4	A-G	L-L	+	-	pancreatic cancer cell line	.	1
12049	MT-ND4	C-T	F-F	+	-	bladder tumor	.	2
12196	MT-TH	C-T	tRNA	+	+	acute leukemia platelets, leukocytes & bone marrow	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	1
12236	MT-TS2	G-A	tRNA	+	-	thyroid tumor	.	2
12278	MT-TL2	T-C	tRNA	+	-	ovary tumor	absent in paired tumor sample	1
12308	MT-TL2	A-G	tRNA	+	-	endometrium control tissue, lung tumor, prostate tumor	absent in paired end. tumor sample, haplogroup U marker	3
12334	MT-TL2	G-A	tRNA	+	+	skeletal muscle - myopathy, EXIT	.	2
12338	MT-ND5	T-C	M-T	+	-	colon cancer		1
12345	MT-ND5	G-A	M-M	+	-	lung tumor	.	2
12372	MT-ND5	G-A	L-L	+	-	prostate tumor	.	2
12384	MT-ND5	T-TT	frameshift	+	-	oncocytoma	insertion	1
12414	MT-ND5	T-C	P-P	+	-	pancreatic cancer cell line, prostate tumor	.	3
12425	MT-ND5	A-AA	frameshift = 12418insA	+	+	colorectal tumor, normal tissues, endometrial and ovarian tumors	insertion	7
12519	MT-ND5	T-C	V-V	+	-	bladder tumor	.	2
12561	MT-ND5	G-A	Q-Q	+	-	pancreatic cancer cell line	.	1
12705	MT-ND5	C-T	I-I	+	-	prostate tumor	.	3
12717	MT-ND5	C-T	T-T	+	-	pancreatic cancer cell line	.	1
12813	MT-ND5	C-A	Y-Ter	+	+	adenocarcinoma, lung cancer		1
12918	MT-ND5	C-T	N-N	+	-	thyroid tumor	.	2
12936	MT-ND5	A-G	Q-Q	+	-	glioblastoma	.	1
12954	MT-ND5	T-C	A-A	+	-	pancreatic cancer cell line	.	1
12967	MT-ND5	A-C	T-P	+	-	thyroid tumor	.	2
13103	MT-ND5	G-A	G-E	+	+	squamous cell carcinoma, lung cancer, breast tumor		2
13124	MT-ND5	T-C	F-S	+	-	glioblastoma	.	1
13493	MT-ND5	T-C	L-P	+	-	oncocytoma	.	1
13500	MT-ND5	T-C	G-G	+	-	pancreatic cancer cell line	.	1
13514	MT-ND5	A-G	D-G	+	-	papillary thyroid carcinoma	.	2
13708	MT-ND5	G-A	A-T	+	+	acute leukemia platelets, leukocytes & bone marrow, breast tumor	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	3
13714	MT-ND5	G-A	G-Ter	+	-	head/neck tumor	.	1
13718	MT-ND5	G-A	S-N	+	-	endometrial tumor	.	1
13889	MT-ND5	G-A	C-Y	+	-	head/neck tumor	.	1
13943	MT-ND5	C-T	T-M	+	-	thyroid tumor	.	2
14053	MT-ND5	A-G	T-A	+	-	prostate tumor	.	2
14138	MT-ND5	T-C	L-P	+	+	colon cancer		1
14279	MT-ND6	G-A	S-L	+	-	endometrial tumor	.	1
14417	MT-ND6	A-G	V-A	+	-	papillary thyroid carcinoma	.	1
14498	MT-ND6	T-A	Y-F	+	-	thyroid tumor	.	2
14510	MT-ND6	A-del	frameshift	+	-	adenocarcinoma, colon cancer	deletion	2
14552	MT-ND6	A-G	V-A	+	-	pancreatic cancer cell line	.	1
14560	MT-ND6	G-T	V-V	+	-	thyroid tumor	.	2
14603	MT-ND6	G-A	S-F	+	-	pancreatic cancer cell line xenograft	.	1
14620	MT-ND6	C-T	G-G	+	-	glioblastoma	.	1
14650	MT-ND6	C-T	L-L	+	-	pancreatic cancer cell line	.	1
14687	MT-TE	A-G	tRNA	+	-	mitochondrial myopathy w respiratory failure	"nearly homoplasmic"	1
14798	MT-CYB	T-C	F-L	+	-	glioblastoma	.	1
14846	MT-CYB	G-A	G-S	+	-	skeletal muscle - myopathy	.	1
14866	MT-CYB	C-T	C-C	+	-	pancreatic cancer cell line	.	1
14927:14941	MT-CYB	[AGCT](15)	del TAFSS	+	-	thyroid tumor	deletion	1
14985	MT-CYB	G-A	R-H	+	-	colorectal tumor	.	3
15084	MT-CYB	G-A	W-Ter	+	+	colonic crypts, skeletal myopathic muscle	.	2
15168	MT-CYB	G-A	W-Ter	+	-	skeletal muscle - myopathy	.	1
15179	MT-CYB	G-A	V-M	+	-	thyroid tumor	.	2
15182	MT-CYB	A-G	I-V	+	-	thyroid tumor	.	2
15247	MT-CYB	C-T	G-G	+	-	endometrial and ovarian tumors	.	1
15280	MT-CYB	C-T	F-F	+	-	thyroid tumor	.	2
15312	MT-CYB	T-G	I-S	+	-	thyroid tumor	.	2
15572	MT-CYB	T-C	F-L	+	-	colorectal tumor	.	3
15646	MT-CYB	C-T	I-I	+	-	pancreatic cancer cell line, breast tumor	.	2
15784	MT-CYB	T-C	P-P	+	-	pancreatic cancer cell line, breast tumor	.	2
15884	MT-CYB	G-C	A-P	+	-	pancreatic cancer cell line	.	1
15983	MT-TP,MT-ATT	T-C	tRNA	+	-	pancreatic cancer cell line xenograft	.	1
15995	MT-TP,MT-ATT	G-A	tRNA	+	-	endometrial tumor	.	1
16093	MT-HV1,MT-TAS2,MT-ATT,MT-CR	T-C	Control Region	+	-	breast & prostate tumors, normal tissues	.	4
16111	MT-HV1,MT-TAS2,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	colonic crypts, colonic mucosa, prostate tumor	.	3
16126	MT-HV1,MT-TAS2,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	+	-	glioblastoma, colonic mucosa, normal tissues	.	3
16134	MT-HV1,MT-TAS2,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	glioblastoma	.	2
16182	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-C	Control Region	+	+	prostate tumor	.	2
16183	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-C	Control Region	+	-	lung tumor back-mutation, prostate tumor, colon tumor	.	4
16183	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-del	Control Region	+	-	colonic crypts	deletion	1
16183	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	+	-	prostate tumor	.	2
16187	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	lung tumor	.	2
16188	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-CC	Control Region	+	-	hair	insertion	1
16189	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	+	+	prostate tumor,normal buccal swab	.	5
16189	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	T-TT	Control Region	+	-	bladder tumor	insertion	1
16193	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	ovarian tumor	.	1
16205	MT-HV1,MT-5,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	+	normal buccal swab	.	2
16217	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	+	-	prostate tumor, colonic mucosa	.	2
16218	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	ovarian tumor	.	3
16248	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	ovarian tumor	.	1
16260	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	gastric carcinoma	.	1
16265	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-C	Control Region	+	-	bladder tumor	.	2
16278	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	ovarian control tissue, colon tumor	.	3
16291	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	+	normal tissues	.	1
16292	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	breast, ovarian, head/neck tumor	.	4
16293	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	+	-	glioblastoma	.	2
16298	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	+	+	prostate tumor	.	2
16300	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	+	-	head/neck tumor	.	2
16304	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	+	+	esophageal, breast & prostate tumors	.	4
16309	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	+	+	normal buccal swab	.	2
16324	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	+	-	esophageal cancer	.	1
16355	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	+	normal tissues, various tumors	.	3
16356	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	+	-	glioblastoma	.	2
16357	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	+	-	hair	.	1
16365	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	ovarian carcinoma	.	2
16390	MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	+	+	breast, ovarian tumor	.	2
16391	MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	+	-	ovarian tumor	.	1
16403	MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	prostate tumor	.	2
16459	MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	prostate tumor	.	2
16465	MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	ovarian tumor	.	1
16519	MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	+	+	glioblastoma, gastric, lung, ovarian, prostate tumors	.	6
16527	MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	pancreatic cancer cell line	.	1
16537	MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	+	-	pancreatic cancer cell line	.	1
32	MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	POLG/PEO patient	.	1
45	MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	control skeletal muscle	.	1
46	MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	-	+	control skeletal muscle	.	1
55	MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	-	+	control skeletal muscle	.	1
59	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	-	+	control skeletal muscle	.	1
60	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	-	+	normal tissues	.	1
62	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	G-C	Control Region	-	+	aging brains	.	1
64	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	C-A	Control Region	-	+	POLG/PEO muscle, normal tissues	.	2
64	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	aging brains	.	2
66	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	POLG/PEO muscle, normal tissues	.	2
67	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	POLG/PEO muscle, normal tissues	.	2
71	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	G-GG	Control Region	-	+	various tumors	insertion	1
71	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	G-del	Control Region	-	+	normal tissues	deletion	1
72	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	-	+	aging brains, POLG/PEO & control muscle, normal tissues	.	4
74	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	T-A	Control Region	-	+	POLG/PEO muscle	.	1
74	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	T-G	Control Region	-	+	POLG/PEO muscle	.	2
80	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	C-A	Control Region	-	+	POLG/PEO muscle	.	1
84	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	POLG/PEO muscle	.	1
91	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	control skeletal muscle	.	1
92	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	aging brains	.	1
97	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	POLG/PEO muscle	.	1
100	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	POLG/PEO muscle	.	1
103	MT-HV2,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	colonic mucosa		1
112	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	control skeletal muscle	.	1
114	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	POLG/PEO muscle, bladder tumor back-mutation	.	3
117	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	-	+	control skeletal muscle	.	1
121	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	POLG/PEO muscle	.	1
122	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	POLG/PEO muscle	.	1
124	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	POLG/PEO muscle	.	1
125	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	-	+	POLG/PEO & control muscle	.	1
137	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	POLG/PEO muscle	.	1
148	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	control skeletal muscle	.	1
159	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	T-A	Control Region	-	+	POLG/PEO muscle	.	1
162	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	C-G	Control Region	-	+	POLG/PEO muscle	.	2
168	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	-	+	control skeletal muscle	.	1
174	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	POLG/PEO muscle	.	4
178	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	POLG/PEO muscle	.	1
180	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	-	+	POLG/PEO muscle	.	1
182	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	POLG/PEO muscle	.	2
183	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	POLG/PEO muscle	.	2
185	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	G-C	Control Region	-	+	POLG/PEO muscle	.	1
186	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	POLG/PEO & MNGIE muscle	.	3
187	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	POLG/PEO muscle	.	1
188	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	A-C	Control Region	-	+	POLG/PEO muscle	.	1
188	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	breast tumor	.	2
189	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	elderly muscle & brains, myocyte, POLG/PEO muscle & fibroblasts, various tumors	.	18
190	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	POLG/PEO muscle	.	1
191	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	A-AA	Control Region	-	+	POLG/PEO muscle	insertion	1
191	MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	POLG/PEO muscle	.	1
192	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-A	Control Region	-	+	POLG/PEO muscle	.	1
192	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-del	Control Region	-	+	POLG/PEO muscle	deletion	1
194	MT-HV2,MT-OHR,MT-ATT,MT-CR	C-T	Control Region	-	+	POLG/PEO muscle	.	2
202	MT-HV2,MT-OHR,MT-ATT,MT-CR	A-G	Control Region	-	+	POLG/PEO muscle	.	1
204	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-TT	Control Region	-	+	POLG/PEO muscle	insertion	1
206	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-C	Control Region	-	+	POLG/PEO & POLG/MNGIE muscle, prostate tumor	.	2
209	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-G	Control Region	-	+	POLG/PEO muscle	.	1
211	MT-HV2,MT-OHR,MT-ATT,MT-CR	A-C	Control Region	-	+	POLG/MNGIE muscle	.	1
211	MT-HV2,MT-OHR,MT-ATT,MT-CR	A-G	Control Region	-	+	POLG/PEO muscle	.	1
213	MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR	T-C	Control Region	-	+	POLG/PEO muscle	.	1
214	MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR	A-G	Control Region	-	+	buccal cell / POLG and OPA1 patients	.	2
214	MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR	A-T	Control Region	-	+	POLG/PEO muscle	.	2
215	MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR	A-C	Control Region	-	+	control skeletal muscle	.	1
223	MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR	T-C	Control Region	-	+	POLG/PEO muscle	.	1
229	MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR	G-A	Control Region	-	+	control skeletal muscle	.	1
239	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	T-C	Control Region	-	+	POLG/PEO muscle, ovarian tumor	.	2
240	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	A-G	Control Region	-	+	POLG/PEO muscle	.	2
242	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	C-T	Control Region	-	+	POLG/PEO muscle	.	1
244	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	A-C	Control Region	-	+	POLG/PEO muscle	.	1
249	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	A-G	Control Region	-	+	elderly fibroblasts, POLG/PEO muscle	.	3
251	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	G-A	Control Region	-	+	POLG/PEO muscle / control sample	.	2
251	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	G-C	Control Region	-	+	buccal cell	.	1
252	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	T-C	Control Region	-	+	buccal cell	.	1
253	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	C-A	Control Region	-	+	POLG/PEO muscle	.	1
253	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	C-T	Control Region	-	+	POLG/PEO & control muscle	.	2
254	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	T-A	Control Region	-	+	POLG/PEO muscle	.	1
260	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	G-C	Control Region	-	+	POLG/MNGIE muscle	.	2
261	MT-HV2,MT-OHR,MT-ATT,MT-CR	C-G	Control Region	-	+	POLG/PEO muscle, pituitary adenoma	.	1
262	MT-HV2,MT-OHR,MT-ATT,MT-CR	C-T	Control Region	-	+	POLG/PEO muscle	.	1
263	MT-HV2,MT-OHR,MT-ATT,MT-CR	A-G	Control Region	-	+	POLG/MNGIE muscle / control sample	.	2
266	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-G	Control Region	-	+	POLG/PEO muscle	.	1
270	MT-HV2,MT-OHR,MT-ATT,MT-CR	A-T	Control Region	-	+	elderly Down's Syndrome fibroblasts	.	1
273	MT-HV2,MT-OHR,MT-ATT,MT-CR	C-T	Control Region	-	+	POLG/PEO muscle	.	2
277	MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR	C-T	Control Region	-	+	POLG and control samples	.	2
285	MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR	C-T	Control Region	-	+	elderly fibroblasts	.	2
290	MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR	AA-TT	Control Region	-	+	MNGIE fibroblasts	insertion	1
291	MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR	A-del	Control Region	-	+	MNGIE fibroblasts	deletion	1
291	MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR	A-G	Control Region	-	+	POLG/PEO & control muscle, MNGIE fibroblasts	.	2
291	MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR	A-T	Control Region	-	+	MNGIE fibroblasts	.	1
292	MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR	T-C	Control Region	-	+	POLG/PEO muscle, MNGIE fibroblasts	.	2
295	MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR	C-T	Control Region	-	+	POLG/MNGIE muscle, glioblastoma	.	4
297	MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR	A-G	Control Region	-	+	POLG/PEO muscle / control sample	.	2
297:348	MT-HV2,MT-OHR,MT-TFY,MT-CSB2,MT-HPR,MT-CSB3,MT-ATT,MT-CR	50 bp deletion	Control Region	-	+	gastric cancer; healthy saliva, blood, & hair; elderly brains	deletion also reported as 306:357	2
298	MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR	C-G	Control Region	-	+	control skeletal muscle	.	1
303:493	MT-HV2,MT-OHR,MT-TFY,MT-CSB2,MT-HPR,MT-CSB3,MT-4H,MT-3H,MT-LSP,MT-TFL,MT-HV3,MT-ATT,MT-CR	~200 bp duplication	Control Region	-	+	elderly muscle	insertion	1
303:568	MT-HV2,MT-OHR,MT-TFY,MT-CSB2,MT-HPR,MT-CSB3,MT-4H,MT-3H,MT-LSP,MT-TFL,MT-HV3,MT-TFH,MT-HSP1,MT-ATT,MT-CR	~260 bp duplication & triplication	Control Region	-	+	multiple tumor types, aging muscle, myopathic muscle	insertion	4
309	MT-HV2,MT-OHR,MT-CSB2,MT-ATT,MT-CR	C-Cn	Control Region	-	+	buccal cell, colonic crypt	insertion deletion	3
309	MT-HV2,MT-OHR,MT-CSB2,MT-ATT,MT-CR	C-T	Control Region	-	+	POLG/PEO muscle	.	1
313	MT-HV2,MT-OHR,MT-CSB2,MT-ATT,MT-CR	C-T	Control Region	-	+	prostate tumor	.	2
318	MT-HV2,MT-OHR,MT-HPR,MT-ATT,MT-CR	T-C	Control Region	-	+	POLG/PEO muscle	.	1
320	MT-HV2,MT-OHR,MT-HPR,MT-ATT,MT-CR	C-T	Control Region	-	+	POLG/PEO muscle	.	1
324	MT-HV2,MT-OHR,MT-ATT,MT-CR	C-G	Control Region	-	+	POLG/MNGIE muscle	.	1
333	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-C	Control Region	-	+	control skeletal muscle	.	1
334	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-C	Control Region	-	+	POLG/PEO muscle	.	1
335	MT-HV2,MT-OHR,MT-ATT,MT-CR	A-G	Control Region	-	+	elderly Down's Syndrome fibroblasts	.	1
368	MT-HV2,MT-OHR,MT-ATT,MT-CR	A-G	Control Region	-	+	colonic mucosa, elderly fibroblasts	.	2
383	MT-OHR,MT-ATT,MT-CR	T-TT	Control Region	-	+	elderly fibroblasts	insertion	1
386	MT-OHR,MT-3H,MT-ATT,MT-CR	C-A	Control Region	-	+	bladder tumor	.	2
408	MT-OHR,MT-LSP,MT-ATT,MT-CR	T-del	Control Region	-	+	Twinkle/PEO frontal cortex	deletion	1
408	MT-OHR,MT-LSP,MT-ATT,MT-CR	T-A	Control Region	-	+	elderly muscle, POLG/PEO, Twinkle/PEO frontal cortex and muscle, normal tissues	.	10
410	MT-OHR,MT-LSP,MT-ATT,MT-CR	G-A	Control Region	-	+	Twinkle/PEO eye muscle	.	1
412	MT-OHR,MT-LSP,MT-ATT,MT-CR	G-A	Control Region	-	+	Twinkle/PEO eye muscle	.	1
414	MT-OHR,MT-LSP,MT-ATT,MT-CR	T-C	Control Region	-	+	AD brains / POLG OPA1 and control samples	.	2
414	MT-OHR,MT-LSP,MT-ATT,MT-CR	T-G	Control Region	-	+	elderly fibroblasts, elderly muscle, POLG/PEO, Down's Syndrome, AD brains,oocytes, normal tissues	.	18
415	MT-OHR,MT-LSP,MT-ATT,MT-CR	A-G	Control Region	-	+	Twinkle/PEO eye muscle	.	1
426	MT-OHR,MT-LSP,MT-TFL,MT-ATT,MT-CR	A-G	Control Region	-	+	elderly Down's Syndrome fibroblasts	.	1
429	MT-OHR,MT-LSP,MT-TFL,MT-ATT,MT-CR	G-A	Control Region	-	+	Twinkle/PEO eye muscle	.	1
455	MT-HV3,MT-ATT,MT-CR	T-del	Control Region	-	+	various tumors	deletion	1
460	MT-HV3,MT-ATT,MT-CR	T-A	Control Region	-	+	elderly Down's Syndrome fibroblasts	.	1
466	MT-HV3,MT-ATT,MT-CR	T-C	Control Region	-	+	alcoholic fatty liver	.	1
477	MT-HV3,MT-ATT,MT-CR	T-C	Control Region	-	+	AD brains, ovarian tumor	.	2
486	MT-HV3,MT-ATT,MT-CR	C-T	Control Region	-	+	elderly Down's Syndrome fibroblasts	.	1
507	MT-HV3,MT-CR	T-A	Control Region	-	+	Twinkle/PEO skeletal muscle	.	1
516	MT-HV3,MT-CR	C-T	Control Region	-	+	normal breast	.	1
523:524	MT-HV3,MT-TFH,MT-CR	AC-del	Control Region	-	+	Twinkle/PEO eye muscle	deletion	1
538	MT-HV3,MT-TFH,MT-CR	A-G	Control Region	-	+	Twinkle/PEO skeletal muscle	.	1
540	MT-HV3,MT-TFH,MT-CR	A-G	Control Region	-	+	Twinkle/PEO skeletal & eye muscle	.	1
556	MT-HV3,MT-HSP1,MT-CR	A-G	Control Region	-	+	Twinkle/PEO eye muscle	.	1
564	MT-HV3,MT-HSP1,MT-CR	G-A	Control Region	-	+	Twinkle/PEO skeletal muscle, pituitary oncocytoma, normal tissues, colonic crypts	.	4
567	MT-HV3,MT-HSP1,MT-CR	A-C	Control Region	-	+	ovarian tumor	.	1
573	MT-HV3,MT-CR	C-CC	Control Region	-	+	Twinkle/PEO frontal cortex	insertion	1
584:4442	MT-TF,MT-HSP2,MT-RNR1,MT-TV,MT-RNR2,MT-Hum,MT-RNR3,MT-TER,MT-TL1,MT-NC1,MT-ND1,MT-TI,MT-TQ,MT-NC2,MT-TM	(N)ins	multiple	-	+	elderly muscle	3857-bp 'HSP' deletion	1
616	MT-TF	T-C	tRNA	-	+	MNGIE fibroblasts	.	1
879	MT-RNR1	T-C	rRNA	-	+	colonic crypts	.	1
1320	MT-RNR1	G-A	rRNA	-	+	normal breast	.	1
1474	MT-RNR1	G-A	rRNA	-	+	endometrial and ovarian tumors	.	1
1586	MT-RNR1	G-A	rRNA	-	+	colonic crypts	.	1
1831	MT-RNR2	G-A	rRNA	-	+	colonic crypts	.	1
1843	MT-RNR2	T-C	rRNA	-	+	fibroblast cybrid cell line	.	1
1900	MT-RNR2	A-G	rRNA	-	+	various tumors		1
1924	MT-RNR2	T-C	rRNA	-	+	colon tumor	.	1
1940	MT-RNR2	A-G	rRNA	-	+	fibroblast cybrid cell line	.	1
1967	MT-RNR2	T-C	rRNA	-	+	colorectal tumor	.	2
2275	MT-RNR2	T-C	rRNA	-	+	colonic crypts	.	1
2299	MT-RNR2	T-A	rRNA	-	+	colorectal tumor	.	2
2623	MT-RNR2	A-G	rRNA	-	+	fibroblast cybrid cell line	.	1
2643	MT-RNR2,MT-Hum	G-C	rRNA	-	+	colonic crypts	.	1
2675	MT-RNR2,MT-Hum	G-A	rRNA	-	+	breast tumor	.	1
2680	MT-RNR2,MT-Hum	T-C	rRNA	-	+	endometrial and ovarian tumors	.	1
2699	MT-RNR2,MT-Hum	C-G	rRNA	-	+	breast tumor	.	1
2724	MT-RNR2	G-C	rRNA	-	+	breast tumor	.	1
2815	MT-RNR2	G-A	rRNA	-	+	colonic crypts	.	1
2916	MT-RNR2	G-A	rRNA	-	+	colonic crypts	.	1
3094	MT-RNR2	G-A	rRNA	-	+	colonic crypts	.	1
3232:3236	MT-TER,MT-TL1	TAAG-T	tRNA	-	+	elderly muscle	3-bp deletion	1
3323:3588	MT-ND1	(N)ins	multiple	-	+	renal cell carcinoma	264-bp deletion, alternate position 3326:3591	1
3386	MT-ND1	T-C	I-T	-	+	MNGIE tissues	.	1
3425	MT-ND1	T-C	V-A	-	+	endometrial tumor	.	1
3436	MT-ND1	G-A	G-Ter	-	+	head/neck tumor	.	1
3470	MT-ND1	T-C	L-P	-	+	endometrial tumor	.	1
3571	MT-ND1	C-CC	frameshift	-	+	various tumors	insertion	4
3679	MT-ND1	T-C	S-P	-	+	head/neck tumor	.	1
3730	MT-ND1	T-C	Y-H	-	+	endometrial tumor	.	1
3931	MT-ND1	T-C	S-P	-	+	head/neck tumor	.	1
4048	MT-ND1	G-A	D-N	-	+	colon tumor	.	1
4370	MT-TQ	T-C	tRNA	-	+	MNGIE fibroblasts	.	1
4398:14822	MT-TQ,MT-NC2,MT-TM,MT-ND2,MT-TW,MT-NC3,MT-TA,MT-NC4,MT-TN,MT-OLR,MT-TC,MT-TY,MT-NC5,MT-CO1,MT-TS1,MT-NC6,MT-TD,MT-CO2,MT-NC7,MT-TK,MT-NC8,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-NC9,MT-CYB	(N)ins	multiple	-	+	elderly muscle	10422-bp deletion	2
4421	MT-TM	G-A	tRNA	-	+	elderly muscle	.	1
4429	MT-TM	G-A	tRNA	-	+	various tumors		1
4446	MT-TM	G-A	tRNA	-	+	colonic crypts	.	1
4460	MT-TM	T-C	tRNA	-	+	elderly muscle	.	1
4569	MT-ND2	G-A	E-K	-	+	various tumors		1
4722	MT-ND2	A-G	T-A	-	+	endometrial and ovarian tumors	.	1
4788	MT-ND2	G-A	G-Ter	-	+	colonic crypts	.	1
4969	MT-ND2	G-C	W-S	-	+	various tumors		1
4986	MT-ND2	A-G	T-A	-	+	colonic crypts	.	1
4986	MT-ND2	A-C	T-P	-	+	oral cancer	.	1
5026	MT-ND2	A-G	H-R	-	+	oral cancer	.	1
5164	MT-ND2	G-A	R-H	-	+	colonic crypts	.	1
5480	MT-ND2	A-C	L-L	-	+	aged substantia nigra neurons	.	1
5567	MT-TW	T-C	tRNA	-	+	endometrial and ovarian tumors	.	1
5738	MT-OLR	G-C	OLR	-	+	various tumors		1
5767	MT-OLR,MT-TC	C-T	tRNA	-	+	various tumors		1
5788:16071	MT-OLR,MT-TC,MT-TY,MT-NC5,MT-CO1,MT-TS1,MT-NC6,MT-TD,MT-CO2,MT-NC7,MT-TK,MT-NC8,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-NC9,MT-CYB,MT-TT,MT-NC10,MT-TP,MT-HV1,MT-ATT,MT-CR	(N)ins	multiple	-	+	elderly muscle	10282-bp deletion	1
5814	MT-TC	T-C	tRNA	-	+	MNGIE tissues	.	2
5888	MT-TY	T-del	tRNA	-	+	CPEO muscle	single nucleotide deletion	1
5949	MT-CO1	G-A	G-Ter	-	+	prostate tumor	.	1
6124	MT-CO1	T-C	M-T	-	+	prostate tumor / simvastatin resistance	.	3
6173:16078	MT-CO1,MT-TS1,MT-NC6,MT-TD,MT-CO2,MT-NC7,MT-TK,MT-NC8,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-NC9,MT-CYB,MT-TT,MT-NC10,MT-TP,MT-HV1,MT-ATT,MT-CR	(N)ins	multiple	-	+	elderly muscle	9904-bp deletion	1
6210	MT-CO1	T-C	W-R	-	+	head/neck tumor	.	1
6490	MT-CO1	T-C	L-P	-	+	various tumors		1
6495	MT-CO1	T-C	S-P	-	+	colon tumor		1
6562	MT-CO1	T-C	F-S	-	+	endometrial tumor, colonic mucosa	.	1
6563	MT-CO1	C-T	F-F	-	+	colonic mucosa		1
6564	MT-CO1	G-A	D-N	-	+	colonic mucosa		1
6564	MT-CO1	G-T	D-Y	-	+	colonic mucosa		1
6565	MT-CO1	A-G	D-G	-	+	colonic mucosa		1
6569	MT-CO1	C-del	frameshift	-	+	colonic mucosa	deletion	1
6721	MT-CO1	T-C	M-T	-	+	bone marrow, whole blood, platelets, granulocytes	AISA (acquired idiopathic sideroblastic anemia) patient	3
6742	MT-CO1	T-C	I-T	-	+	bone marrow, whole blood, platelets, granulocytes	AISA patient	3
6822	MT-CO1	T-A	S-T	-	+	endometrial tumor	.	1
6924	MT-CO1	G-T	A-S	-	+	prostate tumor	.	2
6991	MT-CO1	T-C	L-P	-	+	endometrial tumor	.	1
7013	MT-CO1	G-A	T-T	-	+	colonic crypts	.	1
7222	MT-CO1	A-G	Y-C	-	+	muscle- pt with weakness, peripheral neuropathy, ptosis	.	1
7406	MT-CO1	C-CCCC	P-PP	-	+	head/neck tumor	insertion	1
7842:13904	MT-CO2,MT-NC7,MT-TK,MT-NC8,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5	(N)ins	multiple	-	+	aging liver	6063-bp deletion	2
7962	MT-CO2	T-C	L-S	-	+	endometrial tumor	.	1
8102	MT-CO2	G-A	D-N	-	+	colon tumor	.	1
8344	MT-TK	A-G	tRNA	-	+	bone marrow, elderly muscle	AISA patient	3
8469:13447	MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5	(N)ins	multiple	-	+	CPEO, elderly brain, elderly muscle, elderly temporal bone, deafness, myopathic muscle, kidney disease, sunbed exposure, photoaged skin, breast cancer	the 'common' deletion. Also reported as 8482:13460	41
8483:16084	MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-NC9,MT-CYB,MT-TT,MT-NC10,MT-TP,MT-HV1,MT-TAS2,MT-ATT,MT-CR	(N)ins	multiple	-	+	aging liver, muscle, testis	7436-bp deletion	2
8723:9215	MT-ATP6,MT-CO3	(N)ins	multiple	-	+	alcoholic blood	deletion	1
8783	MT-ATP6	G-A	G-E	-	+	colon tumor	.	1
9058	MT-ATP6	A-G	T-A	-	+	breast tumor	.	1
9196	MT-ATP6	G-A	D-N	-	+	colon tumor		1
9398	MT-CO3	A-G	E-E	-	+	breast tumor	.	1
9436:15913	MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-NC9,MT-CYB,MT-TT	(N)ins	multiple	-	+	elderly muscle	6476-bp deletion	1
9543	MT-CO3	G-A	G-Ter	-	+	colonic crypts	.	1
9651	MT-CO3	C-T	H-Y	-	+	various tumors		1
9921	MT-CO3	G-A	A-T	-	+	colonic crypts	.	1
9985	MT-CO3	G-A	G-E	-	+	colonic crypts	.	1
10020	MT-TG	T-C	tRNA	-	+	colonic crypts	.	1
10158	MT-ND3	T-C	S-P	-	+	MNGIE tissues	.	1
10160	MT-ND3	C-T	S-S	-	+	colon tumor	.	1
10221	MT-ND3	T-C	F-L	-	+	MNGIE tissues	.	1
10386	MT-ND3	G-A	G-Ter	-	+	pituitary oncocytoma	.	1
10407	MT-TR	G-A	tRNA	-	+	breast tumor	.	1
10495	MT-ND4L	T-C	M-T	-	+	normal tissues	.	1
10657	MT-ND4L	T-C	M-T	-	+	breast tumor	.	1
10806	MT-ND4	G-A	W-Ter	-	+	various tumors		1
10844	MT-ND4	A-C	T-P	-	+	endometrial tumor	.	1
10914	MT-ND4	G-A	C-Y	-	+	colon tumor	.	1
11040	MT-ND4	T-C	L-P	-	+	breast tumor	.	1
11100	MT-ND4	A-G	E-G	-	+	colonic crypts	.	1
11621	MT-ND4	TA-del	frameshift-Ter	-	+	head/neck tumor	deletion	1
11770	MT-ND4	T-C	T-T	-	+	colonic crypts	.	1
11794	MT-ND4	T-C	S-S	-	+	oral cancer	.	1
11872	MT-ND4	C-CC	frameshift	-	+	pituitary oncocytoma, various tumors	insertion	2
11874	MT-ND4	C-CC	frameshift	-	+	endometrial and ovarian tumors	insertion	1
12220	MT-TS2	A-G	tRNA	-	+	aging liver & heart	.	1
12233	MT-TS2	C-del	tRNA	-	+	control colon tissue	deletion absent in paired tumor sample	1
12258	MT-TS2	C-G	tRNA	-	+	endometrium tumor	DMDF mutation	1
12300	MT-TL2	G-A	tRNA	-	+	lung-carcinoma cybrid	spontaneous leucine suppressor mutant	3
12301	MT-TL2	G-A	tRNA	-	+	bone marrow, whole blood, platelets, colonic mucosa, granulocytes	AISA patient	3
12390	MT-ND5	C-CC	frameshift	-	+	colonic crypts, omcocytoma	insertion	2
12390	MT-ND5	C-del	frameshift	-	+	various tumors	deletion	1
12425	MT-ND5	A-del	frameshift	-	+	pituitary oncocytoma, normal tissues	deletion	2
12439	MT-ND5	T-C	Y-H	-	+	endometrial tumor	.	1
12448	MT-ND5	T-C	S-P	-	+	colonic mucosa	.	1
12581	MT-ND5	T-C	L-P	-	+	colon tumor	.	1
12731	MT-ND5	T-C	V-A	-	+	colonic mucosa		1
12940	MT-ND5	G-A	A-T	-	+	breast tumor	.	1
12991	MT-ND5	G-A	A-T	-	+	colonic mucosa		1
13083	MT-ND5	A-AC	frameshift	-	+	pituitary oncocytoma	insertion	1
13132	MT-ND5	C-del	frameshift	-	+	various tumors	deletion	1
13178	MT-ND5	G-A	G-D	-	+	head/neck tumor	.	1
13237	MT-ND5	A-del	frameshift	-	+	colonic mucosa	deletion	1
13274	MT-ND5	T-C	M-T	-	+	normal tissues	.	1
13333	MT-ND5	G-A	A-T	-	+	breast tumor	.	1
13366	MT-ND5	G-A	G-Ter	-	+	head/neck tumor, adenocarcinoma, colon cancer	.	2
13537	MT-ND5	A-del	frameshift	-	+	various tumors	deletion	1
13540	MT-ND5	T-C	S-P	-	+	head/neck tumor	.	1
13711	MT-ND5	G-A	A-T	-	+	normal tissues	.	1
13994	MT-ND5	T-C	L-P	-	+	endometrial and ovarian tumors	.	1
14050	MT-ND5	T-C	S-P	-	+	endometrial tumor	.	1
14080	MT-ND5	G-GA	frameshift	-	+	pituitary oncocytoma	insertion	1
14137	MT-ND5	C-T	L-L	-	+	colonic mucosa		1
14159	MT-ND6	C-A	R-L	-	+	various tumors		1
14167	MT-ND6	C-T	E-E	-	+	colonic mucosa		1
14182	MT-ND6	T-A	V-V	-	+	colonic mucosa		1
14419	MT-ND6	C-T	G-G	-	+	colonic mucosa		1
14815	MT-CYB	C-T	T-T	-	+	endometrial tumor	.	1
14920	MT-CYB	C-T	D-D	-	+	colonic crypts	.	1
14963	MT-CYB	G-A	V-M	-	+	colonic crypts	.	1
15246	MT-CYB	G-A	G-del	-	+	colonic mucosa		1
15540	MT-CYB	C-CC	frameshift	-	+	colonic crypts	insertion	1
15573	MT-CYB	T-C	F-S	-	+	endometrial and ovarian tumors	.	1
15642:15662	MT-CYB	[AGCT](21)	del ILAMIPI	-	+	bladder tumor	deletion	2
15756	MT-CYB	G-A	W-Ter	-	+	colonic crypts	.	1
15761	MT-CYB	G-A	G-Ter	-	+	ovarian carcinoma	.	1
15767	MT-CYB	C-T	Q-Ter	-	+	head/neck tumor, breast tumor	.	2
15956	MT-TP,MT-ATT	T-C	tRNA	-	+	MNGIE tissues	.	2
15984	MT-TP,MT-ATT	T-C	tRNA	-	+	colonic mucosa		1
16028	MT-HV1,MT-ATT,MT-CR	T-C	Control Region	-	+	myocyte	.	1
16029	MT-HV1,MT-ATT,MT-CR	T-C	Control Region	-	+	myocyte	.	1
16033	MT-HV1,MT-ATT,MT-CR	G-A	Control Region	-	+	myocyte	.	1
16034	MT-HV1,MT-ATT,MT-CR	G-A	Control Region	-	+	ovarian tumor, myocyte, normal tissues	.	3
16035	MT-HV1,MT-ATT,MT-CR	G-A	Control Region	-	+	myocyte, normal tissues	.	2
16036	MT-HV1,MT-ATT,MT-CR	G-A	Control Region	-	+	myocyte, normal tissues	.	2
16043	MT-HV1,MT-ATT,MT-CR	A-G	Control Region	-	+	MNGIE tissues	.	1
16049	MT-HV1,MT-ATT,MT-CR	G-A	Control Region	-	+	myocyte, normal tissues	.	2
16053	MT-HV1,MT-ATT,MT-CR	C-del	Control Region	-	+	myocyte	deletion	1
16054	MT-HV1,MT-ATT,MT-CR	A-G	Control Region	-	+	myocyte	.	1
16059	MT-HV1,MT-ATT,MT-CR	A-T	Control Region	-	+	colonic mucosa		1
16069	MT-HV1,MT-ATT,MT-CR	C-T	Control Region	-	+	colonic mucosa		1
16070	MT-HV1,MT-ATT,MT-CR	A-G	Control Region	-	+	colonic mucosa		1
16071	MT-HV1,MT-ATT,MT-CR	C-T	Control Region	-	+	colonic mucosa		1
16104	MT-HV1,MT-TAS2,MT-ATT,MT-CR	C-T	Control Region	-	+	colonic mucosa		1
16114	MT-HV1,MT-TAS2,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	colonic mucosa		1
16125	MT-HV1,MT-TAS2,MT-ATT,MT-CR,MT-7SDNA	G-T	Control Region	-	+	colonic mucosa		1
16141	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	breast tumor	.	1
16156	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	various tumors		1
16172	MT-HV1,MT-TAS,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	-	+	MNGIE tissues, colonic mucosa, head/neck tumor back-mutation	.	3
16184	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	colonic mucosa		1
16192	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-A	Control Region	-	+	colonic mucosa		1
16192	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	colonic mucosa		1
16193	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-CC(n)	Control Region	-	+	colonic mucosa, ovarian & prostate tumors, normal buccal swabs	insertion	4
16204	MT-HV1,MT-5,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	colonic mucosa		1
16216	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-C	Control Region	-	+	colonic mucosa		1
16232	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-A	Control Region	-	+	prostate tumor	.	2
16240	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	endometrial tumor	.	1
16244	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	colonic mucosa		1
16249	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	-	+	prostate tumor	.	2
16251	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	colonic mucosa		1
16254	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-T	Control Region	-	+	colonic mucosa		1
16265	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	colonic mucosa		1
16274	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	prostate tumor	.	2
16290	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	breast tumor	.	1
16311	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	-	+	colonic mucosa, prostate tumor	.	1
16318	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	colonic mucosa		1
16327	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	-	+	colonic mucosa		1
16352	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	T-C	Control Region	-	+	MNGIE fibroblasts	.	1
16389	MT-ATT,MT-CR,MT-7SDNA	G-T	Control Region	-	+	colonic mucosa		1
16394	MT-ATT,MT-CR,MT-7SDNA	C-A	Control Region	-	+	colonic mucosa		1
16399	MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	-	+	various tumors	.	2
16426	MT-ATT,MT-CR,MT-7SDNA	C-A	Control Region	-	+	various tumors		1
16438	MT-ATT,MT-CR,MT-7SDNA	G-A	Control Region	-	+	gastric carcinoma	.	1
16474	MT-ATT,MT-CR,MT-7SDNA	G-C	Control Region	-	+	prostate tumor	.	2
16532	MT-ATT,MT-CR,MT-7SDNA	A-T	Control Region	-	+	bladder tumor	.	1
192	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-C	Control Region	.	+	POLG sample	Payne 2013	1
196	MT-HV2,MT-OHR,MT-ATT,MT-CR	T-C	Control Region	.	+	POLG sample	Payne 2013	1
217	MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR	T-C	Control Region	.	+	OPA1 sample	Payne 2013	1
238	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	A-G	Control Region	.	+	POLG sample	Payne 2013	1
241	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	A-G	Control Region	.	+	POLG sample	Payne 2013	1
246	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	T-C	Control Region	.	+	POLG sample	Payne 2013	1
255	MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR	G-A	Control Region	.	+	POLG sample	Payne 2013	1
261	MT-HV2,MT-OHR,MT-ATT,MT-CR	C-T	Control Region	.	.	Pituitary adenoma	.	1
279	MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR	T-C	Control Region	.	+	OPA1 sample	Payne 2013	1
299	MT-HV2,MT-OHR,MT-TFY,MT-CSB2,MT-ATT,MT-CR	C-T	Control Region	.	+	POLG and control samples	Payne 2013	1
365	MT-HV2,MT-OHR,MT-ATT,MT-CR	A-G	Control Region	.	+	control sample	Payne 2013	1
411	MT-OHR,MT-LSP,MT-ATT,MT-CR	C-T	Control Region	.	+	POLG OPA1 and control samples	Payne 2013	1
437	MT-OHR,MT-TFL,MT-ATT,MT-CR	C-T	Control Region	.	.	prostate tumor	.	1
487	MT-HV3,MT-ATT,MT-CR	A-G	Control Region	.	.	prostate tumor	.	1
531	MT-HV3,MT-TFH,MT-CR	T-C	Control Region	.	.	ovarian tumor	.	1
709	MT-RNR1	G-A	rRNA	.	.	thyroid carcinoma (NI-EFVPTC)	.	1
1040	MT-RNR1	T-C	rRNA	.	.	MNGIE fibroblasts	.	1
2233	MT-RNR2	T-A	rRNA	.	.	MNGIE fibroblasts	.	1
2756	MT-RNR2	C-T	rRNA	.	.	Pituitary adenoma	.	1
3487	MT-ND1	C-T	L-L	.	.	pituitary oncocytoma	.	1
3653	MT-ND1	T-C	I-T	.	.	MNGIE fibroblasts	.	1
3901	MT-ND1	G-A	D-N	.	.	thyroid carcinoma (NI-EFVPTC)	.	1
3918	MT-ND1	G-A	E-E	.	.	breast tumor	.	2
3949	MT-ND1	T-C	Y-H	.	.	thyroid oncocytoma	.	1
3951	MT-ND1	C-T	Y-Y	.	.	pituitary oncocytoma	.	1
4028	MT-ND1	T-C	I-T	.	.	MNGIE fibroblasts	.	1
4160	MT-ND1	T-A	L-H	.	.	MNGIE fibroblasts	.	1
4309	MT-TI	G-A	tRNA	.	.	thyroid oncocytoma	.	1
4605	MT-ND2	A-G	K-E	.	.	head/neck tumor	.	1
5412	MT-ND2	T-C	W-R	.	.	thyroid carcinoma (NI-EFVPTC)	.	1
5517	MT-TW	T-C	tRNA	.	.	MNGIE fibroblasts	.	1
5628	MT-TA	T-A	tRNA	.	.	MNGIE tissues	.	1
5628	MT-TA	T-C	tRNA	.	.	MNGIE fibroblasts	.	1
6707	MT-CO1	T-C	F-F	.	.	pituitary adenoma	.	1
6852	MT-CO1	G-A	G-S	.	.	colonic crypts	.	1
6855	MT-CO1	G-A	V-I	.	.	pituitary oncocytoma	.	1
6930	MT-CO1	G-A	G-Ter	.	.	thyroid carcinoma (NI-EFVPTC)	.	1
7055	MT-CO1	A-G	G-G	.	.	MNGIE fibroblasts	.	1
7440	MT-CO1	T-C	S-P	.	.	MNGIE fibroblasts	.	1
8108	MT-CO2	A-G	I-V	.	.	MNGIE fibroblasts	.	1
8367	MT-ATP8	T-C	M-T	.	.	MNGIE fibroblasts	.	1
8374	MT-ATP8	A-G	Q-Q	.	.	pituitary adenoma	.	1
8832	MT-ATP6	A-G	L-L	.	.	pituitary adenoma	.	1
8930	MT-ATP6	C-T	T-M	.	.	pituitary adenoma	.	1
9060	MT-ATP6	C-T	T-T	.	.	pituitary tumors	.	1
9261	MT-CO3	A-G	T-A	.	.	pituitary adenoma	.	1
9342	MT-CO3	G-A	G-S	.	+	OPA1 sample	Payne 2013	1
9377	MT-CO3	A-G	W-W	.	+	control sample	Payne 2013	1
9384	MT-CO3	G-A	D-N	.	+	OPA1 sample	Payne 2013	1
9386	MT-CO3	T-C	D-D	.	+	control sample	Payne 2013	1
9540	MT-CO3	T-C	L-L	.	.	tumor / OPA1 and control samples	.	2
9545	MT-CO3	A-G	G-G	.	+	POLG OPA1 and control samples	Payne 2013	1
9548	MT-CO3	G-A	G-G	.	+	POLG and OPA1 samples	Payne 2013	1
9565	MT-CO3	G-A	G-D	.	+	OPA1 sample	Payne 2013	1
9758	MT-CO3	T-C	S-S	.	.	MNGIE fibroblasts	.	1
10432	MT-TR	A-G	tRNA	.	.	MNGIE fibroblasts	.	1
10646	MT-ND4L	G-C	V-V	.	.	pituitary oncocytoma	.	1
10695	MT-ND4L	G-A	A-T	.	.	head/neck tumor	.	2
11038	MT-ND4	A-del	frameshift	.	.	thyroid, prostate tumors, oncocytoma	deletion	3
11090	MT-ND4	A-T	T-S	.	.	pituitary adenoma	.	1
11315	MT-ND4	C-T	L-L	.	.	pituitary adenoma	.	1
11324	MT-ND4	T-C	S-P	.	.	MNGIE fibroblasts	.	1
11390	MT-ND4	G-A	G-Ter	.	.	thyroid carcinoma (NI-EFVPTC)	.	1
11900	MT-ND4	G-A	V-M	.	.	breast tumor	.	2
12228	MT-TS2	T-C	tRNA	.	.	thyroid carcinoma (NI-EFVPTC)	.	1
15622	MT-CYB	T-G	L-L	.	.	breast tumor	.	1
12310	MT-TL2	A-G	tRNA	.	.	MNGIE fibroblasts	.	1
12344	MT-ND5	T-A	M-K	.	.	breast tumor	.	2
12569	MT-ND5	T-C	L-P	.	.	thyroid carcinoma (NI-EFVPTC)	.	1
12778	MT-ND5	G-A	G-Ter	.	.	pituitary oncocytoma	.	1
13879	MT-ND5	T-C	S-P	.	.	MNGIE fibroblasts	.	1
14166	MT-ND6	T-C	I-V	.	.	MNGIE fibroblasts	.	1
14491	MT-ND6	C-T	G-G	.	.	pituitary oncocytoma	.	1
14869	MT-CYB	G-A	L-L	.	.	breast tumor	.	2
14880	MT-CYB	T-A	I-N	.	.	MNGIE fibroblasts	.	1
15013	MT-CYB	A-G	M-M	.	.	pituitary adenoma	.	1
15172	MT-CYB	G-A	G-G	.	.	endometrial tumor	.	1
15301	MT-CYB	G-A	L-L	.	.	tumor	.	1
15531	MT-CYB	T-del	frameshift	.	.	breast tumor	deletion	1
15535	MT-CYB	C-CG	frameshift	.	.	breast tumor	insertion	1
15535	MT-CYB	C-G	N-K	.	.	breast tumor	.	1
15536	MT-CYB	A-G	T-A	.	.	breast tumor	.	1
15537	MT-CYB	C-A	T-N	.	.	breast tumor	.	1
15538	MT-CYB	C-T	T-T	.	.	breast tumor	.	1
15539	MT-CYB	C-CA	frameshift	.	.	breast tumor	insertion	1
15541	MT-CYB	T-del	frameshift	.	.	breast tumor	deletion	1
15541	MT-CYB	T-A	P-P	.	.	breast tumor	.	1
15541	MT-CYB	T-C	P-P	.	.	breast tumor	.	1
15546	MT-CYB	A-C	H-P	.	.	breast tumor	.	1
15547	MT-CYB	C-del	frameshift	.	.	breast tumor	deletion	1
15548	MT-CYB	A-AG	frameshift	.	.	breast tumor	insertion	1
15548	MT-CYB	A-G	I-V	.	.	breast tumor	.	1
15550	MT-CYB	C-del	frameshift	.	.	breast tumor	deletion	1
15550	MT-CYB	C-T	I-I	.	.	breast tumor	.	1
15553	MT-CYB	G-A	K-K	.	.	breast tumor	.	1
15554	MT-CYB	C-A	P-T	.	.	breast tumor	.	1
15556	MT-CYB	C-G	P-P	.	.	breast tumor	.	1
15556	MT-CYB	C-T	P-P	.	.	breast tumor	.	1
15558	MT-CYB	A-C	E-A	.	.	breast tumor	.	1
15558	MT-CYB	A-G	E-G	.	.	breast tumor	.	1
15559	MT-CYB	A-T	E-D	.	.	breast tumor	.	1
15560	MT-CYB	T-TT	frameshift	.	.	breast tumor	insertion	1
15561	MT-CYB	G-T	W-L	.	.	breast tumor	.	1
15562	MT-CYB	A-AA	frameshift	.	.	breast tumor	insertion	1
15562	MT-CYB	A-del	frameshift	.	.	breast tumor	deletion	1
15563	MT-CYB	T-TG	frameshift	.	.	breast tumor	insertion	1
15563	MT-CYB	T-A	Y-N	.	.	breast tumor	.	1
15564	MT-CYB	A-G	Y-C	.	.	breast tumor	.	1
15564	MT-CYB	A-C	Y-S	.	.	breast tumor	.	1
15565	MT-CYB	T-TC	frameshift	.	.	breast tumor	insertion	1
15568	MT-CYB	C-T	F-F	.	.	breast tumor	.	1
15569	MT-CYB	C-del	frameshift	.	.	breast tumor	deletion	1
15569	MT-CYB	C-T	L-L	.	.	breast tumor	.	1
15571	MT-CYB	A-G	L-L	.	.	breast tumor	.	1
15572	MT-CYB	T-G	F-V	.	.	breast tumor	.	1
15574	MT-CYB	C-T	F-F	.	.	breast tumor	.	1
15574	MT-CYB	C-G	F-L	.	.	breast tumor	.	1
15577	MT-CYB	C-del	frameshift	.	.	breast tumor	deletion	1
15577	MT-CYB	C-A	frameshift	.	.	breast tumor	.	1
15580	MT-CYB	C-CG	frameshift	.	.	breast tumor	insertion	1
15580	MT-CYB	C-T	Y-Y	.	.	breast tumor	.	1
15581	MT-CYB	A-G	T-A	.	.	breast tumor	.	1
15586	MT-CYB	T-del	frameshift	.	.	breast tumor	deletion	1
15586	MT-CYB	T-TT	frameshift	.	.	breast tumor	insertion	1
15588	MT-CYB	T-TT	frameshift	.	.	breast tumor	insertion	1
15588	MT-CYB	T-TTA	frameshift	.	.	breast tumor	insertion	1
15588	MT-CYB	T-G	L-R	.	.	breast tumor	.	1
15589	MT-CYB	C-A	L-L	.	.	breast tumor	.	1
15590	MT-CYB	C-A	R-Ter	.	.	breast tumor	.	1
15591	MT-CYB	G-del	frameshift	.	.	breast tumor	deletion	1
15592	MT-CYB	A-AG	frameshift	.	.	breast tumor	insertion	1
15592	MT-CYB	A-del	frameshift	.	.	breast tumor	deletion	1
15592	MT-CYB	A-G	R-R	.	.	breast tumor	.	1
15595	MT-CYB	C-T	S-S	.	.	breast tumor	.	1
15596	MT-CYB	G-A	V-I	.	.	breast tumor	.	1
15601	MT-CYB	T-A	P-P	.	.	breast tumor	.	1
15602	MT-CYB	A-G	N-D	.	.	breast tumor	.	1
15604	MT-CYB	C-T	N-N	.	.	breast tumor	.	1
15607	MT-CYB	A-G	K-K	.	.	breast tumor	.	1
15608	MT-CYB	C-A	L-M	.	.	breast tumor	.	1
15608	MT-CYB	C-G	L-V	.	.	breast tumor	.	1
15609	MT-CYB	T-A	L-Q	.	.	breast tumor	.	1
15612	MT-CYB	G-GG	frameshift	.	.	breast tumor	insertion	1
15613	MT-CYB	A-AA	frameshift	.	.	breast tumor	insertion	1
15613	MT-CYB	A-G	G-G	.	.	breast tumor	.	1
15614	MT-CYB	G-A	G-S	.	.	breast tumor	.	1
15616	MT-CYB	C-del	frameshift	.	.	breast tumor	deletion	1
15616	MT-CYB	C-G	G-G	.	.	breast tumor	.	1
15619	MT-CYB	C-A	V-V	.	.	breast tumor	.	1
15620	MT-CYB	C-G	L-V	.	.	breast tumor	.	1
15621	MT-CYB	T-G	L-R	.	.	breast tumor	.	1
15628	MT-CYB	A-C	L-L	.	.	breast tumor	.	1
15629	MT-CYB	T-C	L-L	.	.	breast tumor	.	1
15629	MT-CYB	T-G	L-V	.	.	breast tumor	.	1
15630	MT-CYB	T-G	L-W	.	.	breast tumor	.	1
15631	MT-CYB	A-AG	frameshift	.	.	breast tumor	insertion	1
15631	MT-CYB	A-G	L-L	.	.	breast tumor	.	1
15636	MT-CYB	C-T	S-F	.	.	breast tumor	.	1
15637	MT-CYB	C-G	S-S	.	.	breast tumor	.	1
15637	MT-CYB	C-T	S-S	.	.	breast tumor	.	1
15640	MT-CYB	C-T	I-I	.	.	breast tumor	.	1
15641	MT-CYB	C-T	L-F	.	.	breast tumor	.	1
15641	MT-CYB	C-G	L-V	.	.	breast tumor	.	1
15643	MT-CYB	C-T	L-L	.	.	breast tumor	.	1
15647	MT-CYB	C-A	L-M	.	.	breast tumor	.	1
15653	MT-CYB	A-G	M-V	.	.	breast tumor	.	1
15654	MT-CYB	T-C	M-T	.	.	breast tumor	.	1
15655	MT-CYB	A-C	M-I	.	.	breast tumor	.	1
15657	MT-CYB	T-del	frameshift	.	.	breast tumor	deletion	1
15658	MT-CYB	C-A	I-M	.	.	breast tumor	.	1
15659	MT-CYB	C-G	P-A	.	.	breast tumor	.	1
15660	MT-CYB	C-CT	frameshift	.	.	breast tumor	insertion	1
15661	MT-CYB	C-del	frameshift	.	.	breast tumor	deletion	1
15661	MT-CYB	C-G	P-P	.	.	breast tumor	.	1
15662	MT-CYB	A-del	frameshift	.	.	breast tumor	deletion	1
15662	MT-CYB	A-G	I-V	.	.	breast tumor	.	1
15663	MT-CYB	T-del	frameshift	.	.	breast tumor	deletion	1
15663	MT-CYB	T-TG	frameshift	.	.	breast tumor	insertion	1
15664	MT-CYB	C-CA	frameshift	.	.	breast tumor	insertion	1
15664	MT-CYB	C-T	I-I	.	.	breast tumor	.	1
15664	MT-CYB	C-A	I-M	.	.	breast tumor	.	1
15666	MT-CYB	T-del	frameshift	.	.	breast tumor	deletion	1
15667	MT-CYB	C-T	L-L	.	.	breast tumor	.	1
15668	MT-CYB	C-del	frameshift	.	.	breast tumor	deletion	1
15669	MT-CYB	A-AA	frameshift	.	.	breast tumor	insertion	1
15669	MT-CYB	A-T	H-L	.	.	breast tumor	.	1
15670	MT-CYB	T-del	frameshift	.	.	breast tumor	deletion	1
15670	MT-CYB	T-C	H-H	.	.	breast tumor	.	1
15670	MT-CYB	T-G	H-Q	.	.	breast tumor	.	1
15671	MT-CYB	A-C	M-L	.	.	breast tumor	.	1
15672	MT-CYB	T-TC	frameshift	.	.	breast tumor	insertion	1
15672	MT-CYB	T-C	M-T	.	.	breast tumor	.	1
15674	MT-CYB	T-C	S-P	.	.	breast tumor, thyroid adenoma	.	1
15676	MT-CYB	C-T	S-S	.	.	breast tumor	.	1
15679	MT-CYB	A-C	K-N	.	.	breast tumor	.	1
15682	MT-CYB	A-G	Q-Q	.	.	breast tumor	.	1
15688	MT-CYB	C-T	S-S	.	.	breast tumor	.	1
15689	MT-CYB	A-T	M-L	.	.	breast tumor	.	1
15693	MT-CYB	T-C	M-T	.	.	breast tumor	.	1
15695	MT-CYB	T-A	F-I	.	.	breast tumor	.	1
15697	MT-CYB	T-C	F-F	.	.	breast tumor	.	1
15697	MT-CYB	T-A	F-L	.	.	breast tumor	.	1
15698	MT-CYB	C-G	R-G	.	.	breast tumor	.	1
15700	MT-CYB	C-T	R-R	.	.	breast tumor	.	1
15703	MT-CYB	A-T	P-P	.	.	breast tumor	.	1
15704	MT-CYB	C-T	L-L	.	.	breast tumor	.	1
15704	MT-CYB	C-A	L-M	.	.	breast tumor	.	1
15708	MT-CYB	G-A	S-N	.	.	breast tumor	.	1
15709	MT-CYB	C-T	S-S	.	.	breast tumor	.	1
15709	MT-CYB	C-A	S-Ter	.	.	breast tumor	.	1
15714	MT-CYB	C-del	frameshift	.	.	breast tumor	deletion	1
15714	MT-CYB	C-A	S-Ter	.	.	breast tumor	.	1
15716	MT-CYB	C-T	L-F	.	.	breast tumor	.	1
15716	MT-CYB	C-A	L-I	.	.	breast tumor	.	1
15718	MT-CYB	T-TA	frameshift	.	.	breast tumor	insertion	1
15718	MT-CYB	T-C	L-L	.	.	breast tumor	.	1
15719	MT-CYB	T-C	Y-H	.	.	breast tumor	.	1
15720	MT-CYB	A-del	frameshift	.	.	breast tumor	deletion	1
15721	MT-CYB	T-C	Y-Y	.	.	breast tumor	.	1
15723	MT-CYB	G-GG	frameshift	.	.	breast tumor	insertion	1
15725	MT-CYB	C-G	L-V	.	.	breast tumor	.	1
15726	MT-CYB	T-del	frameshift	.	.	breast tumor	deletion	1
15726	MT-CYB	T-C	L-P	.	.	breast tumor	.	1
15729	MT-CYB	T-TT	frameshift	.	.	breast tumor	insertion	1
15729	MT-CYB	T-C	L-P	.	.	thyroid carcinoma (NI-EFVPTC)	.	1
15729	MT-CYB	T-G	L-R	.	.	breast tumor	.	1
15730	MT-CYB	A-T	L-L	.	.	breast tumor	.	1
15731	MT-CYB	G-GT	frameshift	.	.	breast tumor	insertion	1
15732	MT-CYB	C-G	A-G	.	.	breast tumor	.	1
15732	MT-CYB	C-T	A-V	.	.	breast tumor	.	1
15732	MT-CYB	C-CA	frameshift	.	.	breast tumor	insertion	1
15734	MT-CYB	G-A	A-T	.	.	breast tumor	.	1
15734	MT-CYB	G-del	frameshift	.	.	breast tumor	deletion	1
15737	MT-CYB	G-del	frameshift	.	.	breast tumor	deletion	1
15738	MT-CYB	A-G	D-G	.	.	breast tumor	.	1
15740	MT-CYB	C-del	frameshift	.	.	breast tumor	deletion	1
15741	MT-CYB	T-G	L-R	.	.	breast tumor	.	1
15742	MT-CYB	C-A	L-L	.	.	breast tumor	.	1
15743	MT-CYB	C-T	L-F	.	.	breast tumor	.	1
15744	MT-CYB	T-TT	frameshift	.	.	breast tumor	insertion	1
15744	MT-CYB	T-A	L-H	.	.	breast tumor	.	1
15745	MT-CYB	C-A	L-L	.	.	breast tumor	.	1
15746	MT-CYB	A-C	I-L	.	.	breast tumor	.	1
15748	MT-CYB	T-C	I-I	.	.	breast tumor	.	1
15749	MT-CYB	C-T	L-L	.	.	breast tumor	.	1
15750	MT-CYB	T-A	L-Q	.	.	breast tumor	.	1
15751	MT-CYB	A-T	L-L	.	.	breast tumor	.	1
15752	MT-CYB	A-G	T-A	.	.	breast tumor	.	1
15754	MT-CYB	C-A	T-T	.	.	breast tumor	.	1
15754	MT-CYB	C-T	T-T	.	.	breast tumor	.	1
15755	MT-CYB	T-C	W-R	.	.	breast tumor	.	1
15760	MT-CYB	C-G	I-M	.	.	breast tumor	.	1
15763	MT-CYB	A-G	G-G	.	.	breast tumor	.	1
15766	MT-CYB	A-G	G-G	.	.	breast tumor	.	1
15767	MT-CYB	C-A	Q-K	.	.	breast tumor	.	1
15769	MT-CYB	A-G	Q-Q	.	.	breast tumor	.	1
15773	MT-CYB	G-del	frameshift	.	.	breast tumor	deletion	1
15774	MT-CYB	T-A	V-E	.	.	breast tumor	.	1
15777	MT-CYB	G-GG	frameshift	.	.	breast tumor	insertion	1
15778	MT-CYB	C-del	frameshift	.	.	breast tumor	deletion	1
15778	MT-CYB	C-A	S-Ter	.	.	breast tumor	.	1
15779	MT-CYB	T-G	Y-D	.	.	breast tumor	.	1
15779	MT-CYB	T-C	Y-H	.	.	breast tumor	.	1
15781	MT-CYB	C-CT	frameshift	.	.	breast tumor	insertion	1
15781	MT-CYB	C-G	Y-Ter	.	.	breast tumor	.	1
15782	MT-CYB	C-T	P-S	.	.	breast tumor	.	1
15784	MT-CYB	T-TG	frameshift	.	.	breast tumor	insertion	1
15784	MT-CYB	T-G	P-P	.	.	breast tumor	.	1
15785	MT-CYB	T-G	F-V	.	.	breast tumor	.	1
15786	MT-CYB	T-G	F-C	.	.	breast tumor	.	1
15787	MT-CYB	T-del	frameshift	.	.	breast tumor	deletion	1
15787	MT-CYB	T-G	F-L	.	.	breast tumor	.	1
15789	MT-CYB	C-T	T-I	.	.	breast tumor	.	1
15789	MT-CYB	C-A	T-N	.	.	breast tumor	.	1
15790	MT-CYB	C-T	T-T	.	.	breast tumor	.	1
15792	MT-CYB	T-C	I-T	.	.	breast tumor	.	1
15796	MT-CYB	T-A	I-M	.	.	breast tumor	.	1
15797	MT-CYB	G-A	G-Ter	.	.	breast tumor	.	1
15804	MT-CYB	T-A	V-E	.	.	breast tumor	.	1
15807	MT-CYB	C-T	A-V	.	.	breast tumor	.	1
15808	MT-CYB	A-G	A-A	.	.	breast tumor	.	1
15808	MT-CYB	A-T	A-A	.	.	breast tumor	.	1
15811	MT-CYB	C-G	S-S	.	.	breast tumor	.	1
15811	MT-CYB	C-T	S-S	.	.	breast tumor	.	1
15812	MT-CYB	G-del	frameshift	.	.	breast tumor	deletion	1
15814	MT-CYB	A-AA	frameshift	.	.	breast tumor	insertion	1
15814	MT-CYB	A-del	frameshift	.	.	breast tumor	deletion	1
15814	MT-CYB	A-T	V-V	.	.	breast tumor	.	1
15815	MT-CYB	C-A	L-M	.	.	breast tumor	.	1
15815	MT-CYB	C-G	L-V	.	.	breast tumor	.	1
15816	MT-CYB	T-TT	frameshift	.	.	breast tumor	insertion	1
15820	MT-CYB	C-A	Y-Ter	.	.	breast tumor	.	1
15824	MT-CYB	A-G	T-A	.	.	breast tumor	.	1
15826	MT-CYB	A-T	T-T	.	.	breast tumor	.	1
15828	MT-CYB	C-T	T-M	.	.	breast tumor	.	1
15829	MT-CYB	A-G	T-T	.	.	breast tumor	.	1
15830	MT-CYB	A-G	I-V	.	.	breast tumor	.	1
15831	MT-CYB	T-C	I-T	.	.	MNGIE fibroblasts / endometrial tumor	.	3
15832	MT-CYB	C-T	I-I	.	.	breast tumor	.	1
15834	MT-CYB	T-G	L-R	.	.	breast tumor	.	1
15835	MT-CYB	A-T	L-L	.	.	breast tumor	.	1
15836	MT-CYB	A-T	I-F	.	.	breast tumor	.	1
15836	MT-CYB	A-C	I-L	.	.	breast tumor	.	1
15838	MT-CYB	C-T	I-I	.	.	breast tumor	.	1
15839	MT-CYB	C-CC	frameshift	.	.	breast tumor	insertion	1
15839	MT-CYB	C-T	L-L	.	.	breast tumor	.	1
15839	MT-CYB	C-G	L-V	.	.	breast tumor	.	1
15841	MT-CYB	A-T	L-L	.	.	breast tumor	.	1
15842	MT-CYB	A-del	frameshift	.	.	breast tumor	deletion	1
15842	MT-CYB	A-T	M-L	.	.	breast tumor	.	1
15844	MT-CYB	A-C	M-I	.	.	breast tumor	.	1
15849	MT-CYB	C-T	T-I	.	.	breast tumor	.	1
15849	MT-CYB	C-A	T-N	.	.	breast tumor	.	1
16223	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	.	.	colonic mucosa, tumors	.	1
16247	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	A-G	Control Region	.	.	MNGIE fibroblasts	.	1
9110	MT-ATP6	T-C	I-T			MNGIE fibroblasts	.	1
3242	MT-TER,MT-TL1	G-A	tRNA	nr	nr	elderly brain	.	1
16148	MT-HV1,MT-ATT,MT-CR,MT-7SDNA	C-T	Control Region	nr	nr	aging brains	.	1

Notes:

For an extensive list of reported mtDNA deletions, click here.