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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: 16
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 combined sample_92.variant37 1 rs68183979
dbSNP Clinvar 		65881132 1833.54 AAC AA... PASS 4/2 42 None None None None None None None None None DNAJC6|0.217102077|34.73%
View combined sample_92.variant37 1 rs764631432
dbSNP Clinvar 		237955649 523.66 CT... CT... PASS 4/2 26 None None None None None None None None None RYR2|0.544008282|14.03%
View combined sample_92.variant37 3 . 54952359 486.51 CT... CT... PASS 4/2 66 None None None None None None None None None CACNA2D3|0.956528589|2.05%,LRTM1|0.033026592|68.14%
View combined sample_92.variant37 3 . 168542454 302.92 TCA TC... PASS 4/2 28 None None None None None None None None None None
View combined sample_92.variant37 5 . 104434339 734.57 GG... GG... PASS 4/2 6 None None None None None None None None None None
View combined sample_92.variant37 6 rs762426235
dbSNP Clinvar 		42094585 242.06 CA CA... PASS 4/2 29 None None None None None None None None None C6orf132|0.022955823|72.75%
View combined sample_92.variant37 7 . 123249024 287.51 CAAAA CA... PASS 4/2 73 None None None None None None None None None ASB15|0.249466416|31.55%
View combined sample_92.variant37 7 rs60437024,rs3838706
dbSNP Clinvar 		151049002 2758.31 A AA... PASS 4/2 77 None None None 0.55720 None None None None None None NUB1|0.07916652|55.36%
View combined sample_92.variant37 12 rs761656085
dbSNP Clinvar 		130826700 2108.94 CG... CG... PASS 4/2 120 None None None None None None None None None PIWIL1|0.097709791|51.58%
View combined sample_92.variant37 14 rs779361226
dbSNP Clinvar 		60007366 200.39 CT CT... PASS 4/2 35 None None None None None None None None None CCDC175|0.001072555|95.05%
View combined sample_92.variant37 17 rs879056714
dbSNP Clinvar 		7990577 1211.43 GACAC GA... PASS 4/2 49 None None None None None None None None None ALOX12B|0.051252104|62.25%
View combined sample_92.variant37 7 . 148504906 328.75 TA... TA... PASS 4/2 15 None None None None None None None None None EZH2|0.916729206|3.07%
View combined sample_92.variant37 10 . 78839127 491.71 AGT AG... PASS 4/2 8 None None None None None None None None None KCNMA1|0.993929534|0.89%
View combined sample_92.variant37 11 . 16777810 485.28 ATTT AT... PASS 4/2 33 None None None None None None None None None C11orf58|0.733860325|7.53%
View combined sample_92.variant37 16 rs772452731
dbSNP Clinvar 		9214530 87.1 CTTT CT... PASS 4/2 14 None None None None None None None None None C16orf72|0.401038514|20.71%
View combined sample_92.variant37 X . 133380034 2803.58 AGTGT AG... PASS 4/2 50 None None None None None None None None None CCDC160|0.006302974|84.27%
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