SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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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-ND3, MT-ND4, MT-ND5, MT-ND6,
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-ND3 Leber optic atrophy and dystonia
Mitochondrial complex I deficiency
MT-ND4 Leber hereditary optic neuropathy
Leber optic atrophy and dystonia
Mitochondrial complex I deficiency
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
MT-ND6 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
Oncocytoma
Leber hereditary optic neuropathy
Leber optic atrophy and dystonia
Mitochondrial complex I deficiency

Genes at HGMD

Summary

Number of Variants: 29
Number of Genes: 12

Export to: CSV
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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 15ac02301_s1 genome M . 8837 393.91 A G PASS 1/1 17 MODIFIER None None None None None None None None
View 15ac02301_s1 genome M . 8702 639.81 G A PASS 1/1 25 MODIFIER None 0.32 0.49 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 15ac02301_s1 genome M . 8473 809.17 C T PASS 1/1 36 MODIFIER None 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 15ac02301_s1 genome M . 7279 579.02 T C LowGQ;LowGQX 1/1 26 MODIFIER None 0.13 0.77 3.02 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 15ac02301_s1 genome M . 8252 504.1 G A PASS 1/1 23 MODIFIER None 1.00 0.15 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 15ac02301_s1 genome M . 9336 862.27 C T PASS 1/1 33 MODIFIER None None None None None None None None
View 15ac02301_s1 genome M . 9378 699.54 G A PASS 1/1 34 MODIFIER None None None None None None None None
View 15ac02301_s1 genome M . 9453 1123.34 G A PASS 1/1 47 MODIFIER None None None None None None None None
View 15ac02301_s1 genome M . 9541 702.11 C T PASS 1/1 29 MODIFIER None 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 15ac02301_s1 genome M . 15302 792.53 A G PASS 1/1 25 MODIFIER None 0.00 0.67 None None None None None None None
View 15ac02301_s1 genome M . 14906 894.33 A G PASS 1/1 31 MODIFIER None 0.00 0.44 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 15ac02301_s1 genome M . 3922 818.01 C A PASS 1/1 29 MODIFIER None 0.00 0.98 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 15ac02301_s1 genome M . 4961 493.46 C T PASS 1/1 19 MODIFIER None None None None None None None None
View 15ac02301_s1 genome M . 4968 483.44 T C PASS 1/1 18 MODIFIER None 0.00 1.00 3.54 None None None None None None None
View 15ac02301_s1 genome M . 5472 651.62 G A PASS 1/1 27 MODIFIER None 0.96 0.89 None None None None None None None

MT-ND3

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 15ac02301_s1 genome M . 10399 616.92 G A PASS 1/1 24 MODIFIER None 0.09 0.07 None None None None None None None
View 15ac02301_s1 genome M . 10239 700.96 T C PASS 1/1 24 MODIFIER None 0.04 1.00 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 15ac02301_s1 genome M . 11018 643.06 C T PASS 1/1 23 MODIFIER None None None None None None None None
View 15ac02301_s1 genome M . 11363 426.73 A G PASS 1/1 16 MODIFIER None None None None None None None None
View 15ac02301_s1 genome M . 11723 994.85 C T PASS 1/1 37 MODIFIER None 0.02 0.99 None None None None None None None
View 15ac02301_s1 genome M . 12008 774.83 G A PASS 1/1 28 MODIFIER None 0.01 0.99 4.28 None None None None None None None
View 15ac02301_s1 genome M . 10820 787.38 G A PASS 1/1 30 MODIFIER None 0.40 0.13 None None None None None None None
View 15ac02301_s1 genome M . 10874 632.08 C T PASS 1/1 22 MODIFIER None 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 15ac02301_s1 genome M . 12851 650.79 G A PASS 1/1 22 MODIFIER None 0.00 1.00 None None None None None None None
View 15ac02301_s1 genome M . 12823 348.53 A G LowGQ;LowGQX 0/1 18 MODIFIER None None None None None None None None
View 15ac02301_s1 genome M . 12502 700.96 G A PASS 1/1 25 MODIFIER None 0.38 0.97 None None None None None None None

MT-ND6

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 15ac02301_s1 genome M . 14213 755.29 C T PASS 1/1 30 MODIFIER None 0.00 0.95 None None None None None None None
View 15ac02301_s1 genome M . 14411 376.36 G A LowGQ;LowGQX 0/1 16 MODIFIER None None None None None None None None
View 15ac02301_s1 genome M . 14581 462.87 G A PASS 1/1 19 MODIFIER None None None None None None None None
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