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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

Genes at Clinical Genomics Database

MT-ATP6, 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-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: 10

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 wes_0001 hg19 bwa gatk freebayes combined M . 8702 70632.77 G A PASS 1/1 0 MODIFIER None 0.32 0.49 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 8951 76905.77 G A PASS 1/1 0 MODIFIER None 0.00 0.31 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 wes_0001 hg19 bwa gatk freebayes combined M . 7721 87269.77 A G PASS 1/1 0 MODIFIER None 1.00 0.98 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 wes_0001 hg19 bwa gatk freebayes combined M . 9771 73076.77 T C PASS 1/1 0 MODIFIER None 0.00 0.98 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 9657 48668.77 T C PASS 1/1 0 MODIFIER None None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 9541 70159.77 C T PASS 1/1 0 MODIFIER None None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 9378 43563.77 G A PASS 1/1 0 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 wes_0001 hg19 bwa gatk freebayes combined M . 15302 99361.77 A G PASS 1/1 0 MODIFIER None 0.00 1.00 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 15455 58136.77 T C PASS 1/1 0 MODIFIER None None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 14906 65641.77 A G PASS 1/1 0 MODIFIER None 0.00 0.99 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 wes_0001 hg19 bwa gatk freebayes combined M . 4189 56293.77 A G PASS 1/1 0 MODIFIER None 0.00 1.00 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 wes_0001 hg19 bwa gatk freebayes combined M . 4641 21170.77 C A PASS 1/1 0 MODIFIER None 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 wes_0001 hg19 bwa gatk freebayes combined M . 10399 38802.77 G A PASS 1/1 0 MODIFIER None 0.09 0.00 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 wes_0001 hg19 bwa gatk freebayes combined M . 11018 44679.77 C T PASS 1/1 0 MODIFIER None None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 11723 73306.77 C T PASS 1/1 0 MODIFIER None 0.02 0.99 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 11468 116001.77 A G PASS 1/1 0 MODIFIER None 0.00 0.99 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 10820 34632.77 G A PASS 1/1 0 MODIFIER None 0.40 0.13 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 10874 30690.77 C T PASS 1/1 0 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 wes_0001 hg19 bwa gatk freebayes combined M . 14140 45902.77 A G PASS 1/1 0 MODIFIER None 0.41 0.13 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 12851 98018.77 G A PASS 1/1 0 MODIFIER None 0.00 1.00 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 13744 50866.77 T C PASS 1/1 0 MODIFIER None 0.34 0.94 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 12373 31731.77 G A PASS 1/1 0 MODIFIER None None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 12706 70502.77 T C PASS 1/1 0 MODIFIER None 0.00 0.96 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 wes_0001 hg19 bwa gatk freebayes combined M . 14581 36178.77 G A PASS 1/1 0 MODIFIER None None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 14213 29624.77 C T PASS 1/1 0 MODIFIER None 0.00 0.95 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 wes_0001 hg19 bwa gatk freebayes combined M . 12309 15892.77 A G PASS 1/1 0 MODIFIER None None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 15940 44832.73 CT... CT... PASS 1/1 0 MODIFIER None None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 5581 6046.77 C T PASS 1/1 0 MODIFIER None None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined M . 15933 71088.77 C T PASS 1/1 0 MODIFIER None None None None None None None None
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