SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

Genes at Clinical Genomics Database

MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND4, MT-ND4L, MT-ND5,
MT-ATP6 Myopathy, lactic acidosis, and sideroblastic anemia 3
MT-ATP8 Brain pseudoatrophy, reversible, valproate-induced, susceptibility to
MT-CO1 Deafness, mitochondrial
MT-CO2 Cytochrome c oxidase deficiency
MT-CO3 Myoglobinuria, recurrent
MT-ND1 Deafness, mitochondrial
MT-ND2 Leber hereditary optic neuropathy
Mitochondrial complex I deficiency
MT-ND4 Leber hereditary optic neuropathy
Leber optic atrophy and dystonia
Mitochondrial complex I deficiency
MT-ND4L Leber hereditary optic neuropathy
MT-ND5 Myoclonic epilepsy with ragged red fibers
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
Leber hereditary optic neuropathy
Mitochondrial complex I deficiency

Genes at HGMD

Summary

Number of Variants: 139
Number of Genes: 11

Export to: CSV

MT-ATP6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View controlcomb_anno_vep M . 8860 0.0 A G PASS 1 0 MODIFIER 0.10 0.00 None None None None None None None
View controlcomb_anno_vep M . 9098 0.0 T C PASS 0 0 MODIFIER 0.10 0.98 None None None None None None None

MT-ATP8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View controlcomb_anno_vep M . 8388 0.0 T C PASS 0 0 MODIFIER 0.01 0.96 None None None None None None None

MT-CO1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View controlcomb_anno_vep M . 7385 0.0 A G PASS 0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 7028 0.0 C T PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 6518 0.0 C T PASS 0/1 0 MODIFIER None None None None None None None

MT-CO2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View controlcomb_anno_vep M . 7768 0.0 A G PASS 0 0 MODIFIER None None None None None None None

MT-CO3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View controlcomb_anno_vep M . 9938 0.0 T C PASS 0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 9266 0.0 G A PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 9477 0.0 G T PASS 0/0/0 0 MODIFIER 0.00 0.12 None None None None None None None
View controlcomb_anno_vep M . 9477 0.0 G A PASS 0/0/0 0 MODIFIER 0.00 0.12 None None None None None None None
View controlcomb_anno_vep M . 9254 0.0 A G PASS 0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 9932 0.0 G A PASS 0/1 0 MODIFIER None None None None None None None

MT-CYB

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View controlcomb_anno_vep M . 15326 0.0 A G PASS 1 0 MODIFIER 0.28 0.01 None None None None None None None
View controlcomb_anno_vep M . 14766 0.0 C T PASS 0/1 0 MODIFIER 0.04 0.00 None None None None None None None
View controlcomb_anno_vep M . 15454 0.0 T C PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 15346 0.0 G T PASS 0/0/0 0 MODIFIER 0.01 1.00 None None None None None None None
View controlcomb_anno_vep M . 15452 0.0 C G PASS 0/0/0 0 MODIFIER 0.07 0.10 None None None None None None None
View controlcomb_anno_vep M . 15452 0.0 C A PASS 0/0/0 0 MODIFIER 0.07 0.10 None None None None None None None
View controlcomb_anno_vep M . 15346 0.0 G A PASS 0/0/0 0 MODIFIER 0.01 1.00 None None None None None None None
View controlcomb_anno_vep M . 15157 0.0 A G PASS 0 0 MODIFIER None None None None None None None

MT-ND1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View controlcomb_anno_vep M . 3705 0.0 G A PASS 0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 3526 0.0 G A PASS 0/1 0 MODIFIER 0.45 0.80 None None None None None None None

MT-ND2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View controlcomb_anno_vep M . 4561 0.0 T C PASS 0 0 MODIFIER 0.29 0.01 None None None None None None None
View controlcomb_anno_vep M . 5460 0.0 G T PASS 0/0/0 0 MODIFIER 0.10 0.00 None None None None None None None
View controlcomb_anno_vep M . 5460 0.0 G A PASS 0/0/0 0 MODIFIER 0.10 0.00 None None None None None None None
View controlcomb_anno_vep M . 5348 0.0 C T PASS 0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 4994 0.0 A G PASS 0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 4802 0.0 T C PASS 0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 4769 0.0 A G PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 4703 0.0 T C PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 4562 0.0 A G PASS 0 0 MODIFIER None None None None None None None

MT-ND4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View controlcomb_anno_vep M . 11719 0.0 G A PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 11467 0.0 A G PASS 0/1 0 MODIFIER None None None None None None None

MT-ND4L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View controlcomb_anno_vep M . 10506 0.0 A G PASS 0/1 0 MODIFIER 0.27 0.00 None None None None None None None

MT-ND5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View controlcomb_anno_vep M . 13674 0.0 T C PASS 0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 13434 0.0 A G PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 13015 0.0 T C PASS 0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 12633 0.0 C A PASS 0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 14139 0.0 A G PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 12417 0.0 CA C PASS 0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 12372 0.0 G A PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 14148 0.0 A G PASS 0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 12417 0.0 C CA PASS 0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 13934 0.0 C T PASS 0/1 0 MODIFIER 0.90 0.02 None None None None None None None
View controlcomb_anno_vep M . 13928 0.0 G C PASS 0 0 MODIFIER 1.00 0.18 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View controlcomb_anno_vep M . 567 0.0 A ACCCC PASS 0/0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 567 0.0 A AC... PASS 0/0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 567 0.0 A AC... PASS 0/0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 567 0.0 A AC... PASS 0/0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 513 0.0 G GCA PASS 0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 513 0.0 G GCACA PASS 0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 513 0.0 G GC... PASS 0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 513 0.0 G GAC PASS 0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 513 0.0 GCA G PASS 0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 513 0.0 G A PASS 0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 324 0.0 C T PASS 0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 311 0.0 C CT PASS 0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 310 0.0 T TTC PASS 0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 310 0.0 T TC PASS 0/1/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 310 0.0 T TC PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 310 0.0 T TCC PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 310 0.0 T TA PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 310 0.0 T TA PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 310 0.0 T G PASS 0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 310 0.0 T C PASS 0/0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 309 0.0 C T PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 309 0.0 CT C PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 309 0.0 C CT PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 309 0.0 C CCT PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 309 0.0 C CCCT PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 309 0.0 C CCCCT PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 309 0.0 C CC... PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 308 0.0 C CCT PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 308 0.0 C CCT PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 307 0.0 C CCCT PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 306 0.0 C CCCCT PASS 0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 302 0.0 A C PASS 0/0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 302 0.0 A AC PASS 0/0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 302 0.0 A ACC PASS 0/0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 302 0.0 A ACCC PASS 0/0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 302 0.0 A ACCCC PASS 0/0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 302 0.0 A AC... PASS 0/0/0/0/0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 263 0.0 A G PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 251 0.0 G C PASS 0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 251 0.0 G A PASS 0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 248 0.0 A G PASS 0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 247 0.0 G T PASS 0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 247 0.0 GA G PASS 0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 247 0.0 GA G PASS 0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 150 0.0 C T PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 73 0.0 A G PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 16519 0.0 T C PASS 1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 16 0.0 A T PASS 0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 16390 0.0 G A PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 16356 0.0 T C PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 16343 0.0 A G PASS 0/1 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 16318 0.0 A T PASS 0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 16318 0.0 A C PASS 0/0/0 0 MODIFIER None None None None None None None
View controlcomb_anno_vep M . 16259 0.0 C G PASS 0/0/0 0 MODIFIER None None None None None None None