SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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EXCLUDE SAVED GENE LIST:

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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-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: 31
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 el-exome_s1 M . 8702 613.53 G A PASS 1/1 27 MODIFIER None 0.32 0.49 None None None None None None None
View el-exome_s1 M . 8837 14.92 A G LowGQ;LowGQX 1/1 6 MODIFIER None 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 el-exome_s1 M . 8473 618.99 C T PASS 1/1 28 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 el-exome_s1 M . 5988 3.16 C T LowGQX;LowQD;SB 0/1 7 MODIFIER None 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 el-exome_s1 M . 8252 390.07 G A PASS 1/1 21 MODIFIER None 1.00 0.12 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 el-exome_s1 M . 9717 6.77 T G LowGQX;LowQD 0/1 10 MODIFIER None 0.38 0.00 None None None None None None None
View el-exome_s1 M . 9541 510.81 C T PASS 1/1 24 MODIFIER None None None None None None None None
View el-exome_s1 M . 9378 230.29 G A LowGQ;LowGQX 1/1 15 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 el-exome_s1 M . 14906 566.03 A G PASS 1/1 26 MODIFIER None 0.00 0.99 None None None None None None None
View el-exome_s1 M . 15302 588.3 A G PASS 1/1 27 MODIFIER None 0.00 1.00 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 el-exome_s1 M . 3922 531.8 C A PASS 1/1 23 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 el-exome_s1 M . 5472 224.0 G A LowGQ;LowGQX 1/1 13 MODIFIER None 0.96 0.59 None None None None None None None
View el-exome_s1 M . 4918 711.72 A G PASS 1/1 32 MODIFIER None 0.02 0.69 None None None None None None None
View el-exome_s1 M . 4736 443.1 C A PASS 1/1 20 MODIFIER None None None None None None None None
View el-exome_s1 M . 4961 325.19 C T LowGQ;LowGQX 1/1 16 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 el-exome_s1 M . 10399 185.65 G A LowGQ;LowGQX 1/1 10 MODIFIER None 0.09 0.00 None None None None None None None
View el-exome_s1 M . 10239 610.35 T C PASS 1/1 28 MODIFIER None 0.04 0.18 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 el-exome_s1 M . 11929 137.95 A G LowGQ;LowGQX 1/1 7 MODIFIER None None None None None None None None
View el-exome_s1 M . 12093 666.94 C T PASS 1/1 29 MODIFIER None None None None None None None None
View el-exome_s1 M . 10820 229.45 G A LowGQ;LowGQX 1/1 13 MODIFIER None 0.40 0.13 None None None None None None None
View el-exome_s1 M . 10874 355.84 C T LowGQ;LowGQX 1/1 16 MODIFIER None None None None None None None None
View el-exome_s1 M . 11018 484.68 C T PASS 1/1 22 MODIFIER None None None None None None None None
View el-exome_s1 M . 11723 454.01 C T PASS 1/1 21 MODIFIER None 0.02 0.99 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 el-exome_s1 M . 12851 191.1 G A LowGQ;LowGQX 1/1 12 MODIFIER None 0.00 1.00 None None None None None None None
View el-exome_s1 M . 12502 588.31 G A PASS 1/1 29 MODIFIER None 0.38 0.97 None None None None None None None
View el-exome_s1 M . 12823 280.35 A G LowGQ;LowGQX 1/1 16 MODIFIER None None None None None None None None
View el-exome_s1 M . 13711 464.17 A G PASS 1/1 20 MODIFIER None None None None None None None None
View el-exome_s1 M . 13130 392.88 C T PASS 1/1 17 MODIFIER None 0.00 0.83 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 el-exome_s1 M . 14213 141.13 C T LowGQ;LowGQX 1/1 9 MODIFIER None 0.00 0.95 None None None None None None None
View el-exome_s1 M . 14581 373.79 G A PASS 1/1 16 MODIFIER None None None None None None None None
View el-exome_s1 M . 14582 392.88 T C PASS 1/1 16 MODIFIER None 1.00 0.02 None None None None None None None
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