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INDIVIDUALS:

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 GROUPS:

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SELECT YOUR DISEASES:
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MUTATION TYPE:
 CHR:

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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
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SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 1

Genes:
RAB26,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 16
Number of Genes: 1

Export to: CSV
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RAB26
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 16hpc01703_s1 genome 16 . 2203707 9.8 C A LowGQ;LowGQX;SB 1/1 1 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00 None None None None None None RAB26|0.036057941|67.1%
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 16hpc01703_s1 genome 11 . 65803324 7.08 G T LowGQ;LowGQX;SB 1/1 1 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View 16hpc01703_s1 genome 13 rs67765306
dbSNP Clinvar 		40229842 485.52 A AG PASS 0/1 43 MOTIF[MA0139.1:CTCF] LOW None 0.44369 0.44370 0.38268 None None None None None None COG6|0.303873453|27.36%
View 16hpc01703_s1 genome 16 . 15069093 7.08 G A LowGQ;LowGQX;SB 1/1 1 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None PDXDC1|0.09983334|51.21%
View 16hpc01703_s1 genome 17 rs55715426
dbSNP Clinvar 		73760820 102.84 G A SB 0/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09984 0.09984 0.10000 None None None None None None GALK1|0.289083483|28.42%
View 16hpc01703_s1 genome 17 rs820387
dbSNP Clinvar 		73746146 1569.67 T C PASS 1/1 52 MOTIF[MA0139.1:CTCF] MODIFIER None 0.74062 0.74060 0.21313 None None None None None None ITGB4|0.346553835|24.38%
View 16hpc01703_s1 genome 7 rs74824159
dbSNP Clinvar 		143043349 2324.12 C T PASS 0/1 194 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00879 0.00879 0.02107 None None None None None None CLCN1|0.158802473|41.75%
View 16hpc01703_s1 genome 8 rs4841558
dbSNP Clinvar 		11415597 434.27 C T PASS 0/1 41 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.38867 None None None None None None BLK|0.095762795|51.98%
View 16hpc01703_s1 genome 8 rs1042701
dbSNP Clinvar 		11422045 85.91 G A LowGQ;LowGQX;SB 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.24002 0.24000 None None None None None None BLK|0.095762795|51.98%
View 16hpc01703_s1 genome 8 rs11784716
dbSNP Clinvar 		11872723 9.8 A G LowGQ;LowGQX;SB 1/1 1 MOTIF[MA0139.1:CTCF] MODIFIER None 0.99701 0.99700 None None None None None None None
View 16hpc01703_s1 genome 8 rs56279307
dbSNP Clinvar 		11872732 9.8 G C LowGQ;LowGQX;SB 1/1 1 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00260 0.33510 None None None None None None None
View 16hpc01703_s1 genome 8 rs55907235
dbSNP Clinvar 		11872734 9.8 C T LowGQ;LowGQX;SB 1/1 1 MOTIF[MA0139.1:CTCF] MODIFIER None 0.33566 0.33570 None None None None None None None
View 16hpc01703_s1 genome 14 rs4982856
dbSNP Clinvar 		24563212 7.08 T C LowGQ;LowGQX;SB 1/1 1 MOTIF[MA0139.1:CTCF] MODIFIER None 0.41154 0.41150 None None None None None None NRL|0.215034879|34.98%
View 16hpc01703_s1 genome 1 rs61810914
dbSNP Clinvar 		144621555 8.93 A G LowGQX;LowQD;SB 0/1 10 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View 16hpc01703_s1 genome 11 rs2074039
dbSNP Clinvar 		44092880 2979.95 C T PASS 1/1 106 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09345 0.09345 0.11203 None None None None None None ACCS|0.034927707|67.49%
View 16hpc01703_s1 genome 16 . 322814 4.97 G T LowGQX;SB 0/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None RGS11|0.01269963|78.72%,ARHGDIG|0.014045307|77.85%
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