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

IBA57,
IBA57 ?Spastic paraplegia 74, autosomal recessive, 616451 (3)
Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)

Genes at Clinical Genomics Database

IBA57, TRAP1,
IBA57 Multiple mitochondrial dysfunctions syndrome 3
Spastic paraplegia 74, autosomal recessive
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 8

Export to: CSV
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CECR5

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 gpp10315_20120828021333_nucseek 22 . 17640098 15.15 C T LowQual 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.00 None None None None None None None

CLIC4

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 gpp10315_20120828021333_nucseek 1 . 25167420 6777.01 A G PASS 0/1 541 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.28 0.00 None None None None None None CLIC4|0.511630101|15.31%

IBA57

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 gpp10315_20120828021333_nucseek 1 . 228353832 15.15 G T LowQual 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None IBA57|0.009914463|80.91%

MTRF1L

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 gpp10315_20120828021333_nucseek 6 . 153312334 62.01 C A PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.08 None None None None None None MTRF1L|0.079490334|55.29%

NUDT8

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 gpp10315_20120828021333_nucseek 11 . 67397328 9.53 C A LowQual 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.42 0.01 4.77 0.01 0.33005 T None None None None NUDT8|0.011053707|80.02%

PDPR

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 gpp10315_20120828021333_nucseek 16 . 70182375 14875.01 T C PASS 0/1 1612 SYNONYMOUS_CODING LOW None 4.21 0.08 0.73571 D None None None None PDPR|0.230085015|33.36%

POLRMT

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 gpp10315_20120828021333_nucseek 19 . 621205 1168.01 G A PASS 0/1 130 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None None

TRAP1

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 gpp10315_20120828021333_nucseek 16 . 3712084 27.77 A C LowQual 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None DNASE1|0.039855019|65.82%,TRAP1|0.168599632|40.51%
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 gpp10315_20120828021333_nucseek 16 . 28503373 4.77 A C LowQual 0/1 2 None None None None None None None None None CLN3|0.080923796|55%
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