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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 1

Genes:
ECHDC3,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 1

Export to: CSV
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ECHDC3
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.SAMTOOLS 10 rs11558855
dbSNP Clinvar 		11784633 495.77 C T PASS 0/1 21 None None None 0.09185 0.09185 0.10550 0.03 0.45 3.14 None None None None None None ECHDC3|0.029496468|69.61%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4750090
dbSNP Clinvar 		11789382 626.77 G A PASS 1/1 14 None None None 0.91354 0.91350 0.08927 0.06 0.85 4.98 None None None None None None ECHDC3|0.029496468|69.61%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4750091
dbSNP Clinvar 		11789405 616.77 G A PASS 1/1 15 None None None 0.92232 0.92230 0.07550 None None None None None None ECHDC3|0.029496468|69.61%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7899215
dbSNP Clinvar 		11797436 3581.77 T C PASS 1/1 82 None None None 0.93131 0.93130 0.06366 None None None None None None ECHDC3|0.029496468|69.61%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7910140
dbSNP Clinvar 		11797467 4126.77 G A PASS 1/1 97 None None None 0.91594 0.91590 0.08781 1.00 0.02 1.55 None None None None None None ECHDC3|0.029496468|69.61%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs61739577
dbSNP Clinvar 		11805249 1993.77 T C PASS 0/1 132 None None None 0.14657 0.14660 0.22436 None None None None None None ECHDC3|0.029496468|69.61%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs17850531
dbSNP Clinvar 		11805339 1912.77 C T PASS 0/1 136 None None None 0.19709 0.19710 0.15501 None None None None None None ECHDC3|0.029496468|69.61%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs12258196
dbSNP Clinvar 		11805354 8255.77 A G PASS 1/1 128 None None None 0.51518 0.51520 0.45518 None None None None None None ECHDC3|0.029496468|69.61%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs10906011
dbSNP Clinvar 		11805357 8255.77 G A PASS 1/1 129 None None None 0.51578 0.51580 0.45548 None None None None None None ECHDC3|0.029496468|69.61%
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