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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
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 GROUPS:

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GENE LIST:
INDIVIDUALS:

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SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
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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: 8
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 62408779_s7 mvar 62408779_S7.FREEBAYES 1 rs3120045
dbSNP Clinvar 		43697968 302.77 G A PASS 0/1 38 MOTIF[MA0058.1:Max] LOW None 0.46745 0.46750 None None None None None None EBNA1BP2|0.247979458|31.72%,CFAP57|0.107626694|49.67%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 8 rs2250895
dbSNP Clinvar 		145692296 2915.77 A C PASS 1/1 106 MOTIF[MA0058.1:Max] MODIFIER None 0.93730 0.93730 0.00952 None None None None None None KIFC2|0.020866379|73.72%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 11 rs769440
dbSNP Clinvar 		64889416 493.77 G C PASS 0/1 32 MOTIF[MA0058.1:Max] MODIFIER None 0.44868 0.44870 None None None None None None FAU|0.593719693|11.99%,SYVN1|0.210771547|35.48%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 1 rs2253831
dbSNP Clinvar 		237923053 264.77 C T PASS 0/1 39 MOTIF[MA0058.1:Max] LOW None 0.76158 0.76160 0.27402 None None None None None None RYR2|0.544008282|14.03%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 5 rs226198
dbSNP Clinvar 		81573992 344.77 C T PASS 1/1 13 MOTIF[MA0058.1:Max] LOW None 0.89896 0.89900 None None None None None None RPS23|0.200487295|36.72%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 6 rs3828916
dbSNP Clinvar 		31465915 6650.77 G C PASS 1/1 195 MOTIF[MA0058.1:Max] LOW None 0.85064 0.85060 None None None None None None MICB|0.000655639|97.5%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 16 rs11646653
dbSNP Clinvar 		28922149 1683.77 C T PASS 1/1 57 MOTIF[MA0058.1:Max] LOW None 0.75499 0.75500 None None None None None None RABEP2|0.084786865|54.26%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 21 rs2839203
dbSNP Clinvar 		47716389 157.77 C A PASS 0/1 15 MOTIF[MA0058.1:Max] LOW None 0.53275 0.53270 None None None None None None YBEY|0.008142838|82.51%
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