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 |