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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

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 13
Number of Genes: 0

Export to: CSV
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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 pep_0060 13 . 75900598 1315.73 TG T . 0/1 211 MOTIF[MA0058.1:Max] LOW None None None None None None None TBC1D4|0.202912973|36.39%
View pep_0060 16 . 28922135 878.73 GC G . 0/1 198 MOTIF[MA0058.1:Max] LOW None None None None None None None RABEP2|0.084786865|54.26%
View pep_0060 16 rs11646653
dbSNP Clinvar 		28922149 4629.77 C T . 1/1 202 MOTIF[MA0058.1:Max] LOW None 0.75499 0.75500 None None None None None None RABEP2|0.084786865|54.26%
View pep_0060 16 rs72523665
dbSNP Clinvar 		69951847 4953.73 C CCT . 1/1 166 MOTIF[MA0058.1:Max] LOW None 0.72644 0.72640 None None None None None None WWP2|0.488930934|16.36%
View pep_0060 X . 47518182 278.73 AC A . 0/1 51 MOTIF[MA0058.1:Max] LOW None None None None None None None UXT|0.333319662|25.22%
View pep_0060 2 rs572564751
dbSNP Clinvar 		28836881 158.73 G GT . 0/1 109 MOTIF[MA0058.1:Max] LOW None None None None None None None PLB1|0.018823638|74.77%
View pep_0060 2 . 131100482 156.73 AC A . 0/1 57 MOTIF[MA0058.1:Max] LOW None None None None None None None IMP4|0.25522724|31.11%
View pep_0060 6 rs1713862
dbSNP Clinvar 		74171467 6546.77 C G . 1/1 250 MOTIF[MA0058.1:Max] LOW None 0.91134 0.91130 None None None None None None MTO1|0.179068486|39.12%
View pep_0060 7 . 75677592 131.73 GC G . 0/1 23 MOTIF[MA0058.1:Max] LOW None None None None None None None MDH2|0.422944733|19.45%
View pep_0060 8 rs2250895
dbSNP Clinvar 		145692296 6378.77 A C . 1/1 243 MOTIF[MA0058.1:Max] MODIFIER None 0.93730 0.93730 0.00952 None None None None None None KIFC2|0.020866379|73.72%
View pep_0060 14 . 24911550 38.73 AC A . 0/1 18 MOTIF[MA0058.1:Max] LOW None None None None None None None SDR39U1|0.090184278|53.21%
View pep_0060 9 . 7799378 10543.73 CT... C . 1/1 128 MOTIF[MA0058.1:Max] LOW None None None None None None None TMEM261|0.003890901|87.18%
View pep_0060 12 . 105501498 947.73 C CG . 0/1 229 MOTIF[MA0058.1:Max] LOW None None None None None None None KIAA1033|0.517481743|15.09%
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