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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:

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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: 25
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_99.variant44 2 rs761762082
dbSNP Clinvar 		40655563 1935.28 CC... CC... PASS 4/1 37 None None None None None None None None None SLC8A1|0.791143716|6.09%
View combined sample_99.variant44 3 rs11268633
dbSNP Clinvar 		38355176 1413.97 T TG... PASS 4/1 21 None None None None None None None None None SLC22A14|0.001081245|95%
View combined sample_99.variant44 5 rs776314286
dbSNP Clinvar 		149294595 546.05 CTTTT CT... PASS 4/1 16 None None None None None None None None None PDE6A|0.398096612|20.89%
View combined sample_99.variant44 5 rs796263180
dbSNP Clinvar 		160972443 645.31 TAA TA... PASS 4/1 78 None None None None None None None None None GABRB2|0.654745472|9.91%
View combined sample_99.variant44 9 . 33043990 3139.9 TA... TA... PASS 4/1 127 None None None None None None None None None SMU1|0.574271634|12.83%
View combined sample_99.variant44 11 rs370786608,rs754602519
dbSNP Clinvar 		124007398 586.97 CC... CC... PASS 4/1 18 None None None None None None None None None VWA5A|0.013022691|78.5%
View combined sample_99.variant44 12 . 51640388 321.98 CTG CT... PASS 4/1 43 None None None None None None None None None DAZAP2|0.313955996|26.5%,SMAGP|0.17637614|39.48%
View combined sample_99.variant44 13 . 26411561 730.11 CC... CC... PASS 4/1 20 None None None None None None None None None ATP8A2|0.338221309|24.95%
View combined sample_99.variant44 13 rs144160325
dbSNP Clinvar 		111364877 231.69 A AG... PASS 4/1 20 MOTIF[MA0062.1:Gabp] LOW None None None None None None None CARS2|0.018441874|74.99%
View combined sample_99.variant44 19 . 6763916 89.17 CTTTT CT... PASS 4/1 19 None None None None None None None None None SH2D3A|0.008626744|82%
View combined sample_99.variant44 1 rs772804337
dbSNP Clinvar 		159896866 376.13 TCA TC... PASS 4/1 7 None None None None None None None None None IGSF9|0.062403105|59.21%
View combined sample_99.variant44 1 . 175712765 584.99 GT... GT... PASS 4/1 15 None None None None None None None None None TNR|0.798250145|5.9%
View combined sample_99.variant44 9 rs878997936
dbSNP Clinvar 		38414030 863.59 TCACA TC... PASS 4/1 49 None None None None None None None None None IGFBPL1|0.012302265|79.03%
View combined sample_99.variant44 8 rs746699121
dbSNP Clinvar 		139380103 2515.49 AAC AA... PASS 4/1 83 None None None None None None None None None FAM135B|0.108331504|49.51%
View combined sample_99.variant44 12 . 54955545 741.9 CG... CG... PASS 4/1 58 None None None None None None None None None PDE1B|0.210789732|35.47%
View combined sample_99.variant44 18 . 6031810 1086.3 GTTTT GT... PASS 4/1 96 None None None None None None None None None L3MBTL4|0.063105699|59.07%
View combined sample_99.variant44 22 rs758120808
dbSNP Clinvar 		24199764 343.73 AC AC... PASS 4/1 38 None None None 0.42016 None None None None None None SLC2A11|0.006726547|83.8%
View combined sample_99.variant44 1 . 48762797 343.1 GG... GG... PASS 4/1 80 None None None None None None None None None SPATA6|0.253984716|31.22%
View combined sample_99.variant44 2 . 70189331 299.81 GA... GA... PASS 4/1 19 None None None None None None None None None ASPRV1|0.141335736|44.23%
View combined sample_99.variant44 2 rs796385577,rs149244535,rs66690846
dbSNP Clinvar 		139308397 2241.78 TTC TT... PASS 4/1 35 None None None None None None None None None SPOPL|0.571264483|12.91%
View combined sample_99.variant44 4 rs772913369
dbSNP Clinvar 		141383034 503.14 TA... TA... PASS 4/1 20 None None None None None None None None None None
View combined sample_99.variant44 10 . 31816340 649.21 AA... AA... PASS 4/1 37 None None None None None None None None None ZEB1|0.848008697|4.69%
View combined sample_99.variant44 12 rs5800087
dbSNP Clinvar 		93164772 6609.68 G GG... PASS 4/1 169 None None None 0.56969 0.56970 None None None None None None PLEKHG7|0.06024962|59.79%,EEA1|0.669678145|9.39%
View combined sample_99.variant44 19 . 17171035 124.93 TA... TA... PASS 4/1 16 None None None None None None None None None HAUS8|0.001419662|93.24%
View combined sample_99.variant44 20 . 50217346 1626.48 AA... AA... PASS 4/1 50 None None None None None None None None None ATP9A|0.17091233|40.18%
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