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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 23
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_53.variant16 1 . 27190821 1301.51 GG... GG... PASS 2/4 49 None None None None None None None None None SFN|0.879282286|3.98%
View combined sample_53.variant16 2 . 96049917 411.61 TACAC TA... PASS 2/4 20 None None None None None None None None None KCNIP3|0.160681289|41.44%
View combined sample_53.variant16 5 rs754989094,rs529614550
dbSNP Clinvar
94230572 355.86 CT CT... PASS 2/4 61 None None None 0.05411 None None None None None None MCTP1|0.904537145|3.36%
View combined sample_53.variant16 8 rs57257880,rs397783292
dbSNP Clinvar
25301759 490.71 C CT... PASS 2/4 21 None None None 0.56370 0.56370 None None None None None None KCTD9|0.393113851|21.2%
View combined sample_53.variant16 10 . 82192391 631.02 TAA T,... PASS 2/4 82 None None None None None None None None None FAM213A|0.076040489|56.08%
View combined sample_53.variant16 10 rs760189868
dbSNP Clinvar
118641909 3602.81 TAA T,... PASS 2/4 189 None None None None None None None None None ENO4|0.087748585|53.69%
View combined sample_53.variant16 11 . 75641971 52.3 TT... TT... PASS 2/4 4 None None None None None None None None None UVRAG|0.211243668|35.43%
View combined sample_53.variant16 11 rs139748612
dbSNP Clinvar
77925423 945.71 T TG... PASS 2/4 17 None None None None None None None None None USP35|0.056279827|60.83%
View combined sample_53.variant16 15 . 78792880 5893.86 CAAAA C,... PASS 2/4 242 None None None None None None None None None IREB2|0.445763934|18.38%
View combined sample_53.variant16 17 . 3512616 289.93 TG... TG... PASS 2/4 42 None None None None None None None None None SHPK|0.059841096|59.91%
View combined sample_53.variant16 3 rs67898127
dbSNP Clinvar
19988758 1087.02 CCGG CC... PASS 2/4 34 None None None None None None None None None RAB5A|0.620368662|11.08%
View combined sample_53.variant16 6 rs199947116,rs55996743,rs796265622
dbSNP Clinvar
33173748 529.56 CAGAG CA... PASS 2/4 47 None None None None None None None None None HSD17B8|0.095490496|52.02%
View combined sample_53.variant16 1 . 111970431 100.39 TA... TA... PASS 2/4 32 None None None None None None None None None None
View combined sample_53.variant16 2 . 121749583 283.97 TA... T,... PASS 2/4 20 None None None None None None None None None GLI2|0.838872157|4.89%
View combined sample_53.variant16 2 rs878890799
dbSNP Clinvar
31489627 963.84 TA... TA... PASS 2/4 42 None None None None None None None None None EHD3|0.24380399|32.13%
View combined sample_53.variant16 2 rs111979949,rs56413404
dbSNP Clinvar
183066377 972.34 C CA... PASS 2/4 37 None None None 0.50359 0.50360 None None None None None None PDE1A|0.358249613|23.57%
View combined sample_53.variant16 3 rs779131839
dbSNP Clinvar
138668233 54.04 CGT C,... PASS 2/4 21 None None None None None None None None None FOXL2NB|0.000634876|97.65%
View combined sample_53.variant16 4 . 40425669 228.26 TT... TT... PASS 2/4 9 None None None None None None None None None RBM47|0.350225343|24.09%
View combined sample_53.variant16 4 rs146639756
dbSNP Clinvar
75147041 348.61 C CG... PASS 2/4 21 None None None None None None None None None MTHFD2L|0.173905555|39.79%
View combined sample_53.variant16 4 rs5860654
dbSNP Clinvar
101946461 506.73 GT GT... PASS 2/4 109 None None None None None None None None None PPP3CA|0.82911156|5.1%
View combined sample_53.variant16 9 rs200260394
dbSNP Clinvar
91653257 395.67 TAAAA TA... PASS 2/4 29 None None None None None None None None None SHC3|0.097881186|51.55%
View combined sample_53.variant16 12 rs371687029
dbSNP Clinvar
50413478 96.85 AAAAT AA... PASS 2/4 4 None None None None None None None None None RACGAP1|0.930957279|2.75%
View combined sample_53.variant16 19 . 14492077 355.87 CG... CG... PASS 2/4 35 None None None None None None None None None ADGRE5|0.001053928|95.16%
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