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

+ Genes 5

Genes:
AFG3L2, ATP8B1, CEP192, MC5R, SEH1L,

+ Genes associated with diseases 2

Genes at Omim

AFG3L2, ATP8B1,
AFG3L2 Spastic ataxia 5, autosomal recessive, 614487 (3)
Spinocerebellar ataxia 28, 610246 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)

Genes at Clinical Genomics Database

AFG3L2, ATP8B1,
AFG3L2 Spinocerebellar ataxia 28
Spastic ataxia 5, autosomal recessive
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy

Genes at HGMD

Summary

Number of Variants: 751
Number of Genes: 5

Export to: CSV

AFG3L2
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 axiomgt1 calls 18 rs758108965
dbSNP Clinvar 		12367098 0.0 C T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.02 None None None None None None AFG3L2|0.258891122|30.83%

ATP8B1
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 axiomgt1 calls 18 . 55368279 0.0 C T . 0/1 0 SYNONYMOUS_CODING LOW SILENT None None None None None None ATP8B1|0.161108429|41.4%

CEP192
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 axiomgt1 calls 18 . 13071045 0.0 C T . 1/1 0 STOP_GAINED HIGH NONSENSE None None None None None None CEP192|0.030811627|69.03%
View axiomgt1 calls 18 . 13017191 0.0 C A . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.10 None None None None None None CEP192|0.030811627|69.03%

MC5R
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 axiomgt1 calls 18 . 13826251 0.0 T C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32 0.99 None None None None None None MC5R|0.053549563|61.61%

SEH1L
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 axiomgt1 calls 18 . 12986888 0.0 A C . 0/1 0 SYNONYMOUS_CODING LOW SILENT None None None None None None SEH1L|0.637453609|10.53%
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 axiomgt1 calls 18 . 60166556 0.0 A G . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 60057850 0.0 C A . 0/1 0 None None None None None None None None None TNFRSF11A|0.301687463|27.52%
View axiomgt1 calls 18 . 59924746 0.0 G A . 0/1 0 None None None None None None None None None KIAA1468|0.467952435|17.28%
View axiomgt1 calls 18 . 59598623 0.0 A C . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 59224311 0.0 G A . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 59200972 0.0 G A . 0/1 0 None None None None None None None None None CDH20|0.521854874|14.91%
View axiomgt1 calls 18 . 58964725 0.0 A C . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 58864004 0.0 T C . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 58432188 0.0 A C . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 57966187 0.0 T G . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 57602151 0.0 A G . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 57437748 0.0 G T . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 57399409 0.0 G A . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 57350540 0.0 C T . 0/1 0 None None None None None None None None None CCBE1|0.137723274|44.75%
View axiomgt1 calls 18 . 57252680 0.0 A G . 1/1 0 None None None None None None None None None CCBE1|0.137723274|44.75%
View axiomgt1 calls 18 . 56920132 0.0 G A . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 56843719 0.0 C T . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 56600255 0.0 T C . 0/1 0 None None None None None None None None None ZNF532|0.092736838|52.67%
View axiomgt1 calls 18 . 56560494 0.0 A C . 1/1 0 None None None None None None None None None ZNF532|0.092736838|52.67%
View axiomgt1 calls 18 . 56527214 0.0 G T . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 56376309 0.0 C A . 0/1 0 None None None None None None None None None MALT1|0.189803548|37.84%
View axiomgt1 calls 18 . 56227019 0.0 T C . 0/1 0 None None None None None None None None None ALPK2|0.002935349|88.74%
View axiomgt1 calls 18 . 56169315 0.0 T G . 0/1 0 None None None None None None None None None ALPK2|0.002935349|88.74%
View axiomgt1 calls 18 . 56066592 0.0 T G . 1/1 0 None None None None None None None None None NEDD4L|0.694589735|8.66%
View axiomgt1 calls 18 . 56065204 0.0 C T . 1/1 0 None None None None None None None None None NEDD4L|0.694589735|8.66%
View axiomgt1 calls 18 . 55858356 0.0 C T . 0/1 0 None None None None None None None None None NEDD4L|0.694589735|8.66%
View axiomgt1 calls 18 . 55729997 0.0 G T . 1/1 0 None None None None None None None None None NEDD4L|0.694589735|8.66%
View axiomgt1 calls 18 . 55724021 0.0 T C . 1/1 0 None None None None None None None None None NEDD4L|0.694589735|8.66%
View axiomgt1 calls 18 . 55690140 0.0 T G . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 55616241 0.0 A G . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 55607604 0.0 G T . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 55494997 0.0 A G . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 55392011 0.0 G A . 0/1 0 None None None None None None None None None ATP8B1|0.161108429|41.4%
View axiomgt1 calls 18 . 55307386 0.0 T G . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 55136522 0.0 T C . 1/1 0 None None None None None None None None None ONECUT2|0.569949566|12.99%
View axiomgt1 calls 18 . 55030637 0.0 C A . 0/1 0 None None None None None None None None None ST8SIA3|0.617091713|11.2%
View axiomgt1 calls 18 . 54953236 0.0 G A . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 54929924 0.0 G A . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 54763272 0.0 A G . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 54673082 0.0 G A . 0/1 0 None None None None None None None None None WDR7|0.523287964|14.85%
View axiomgt1 calls 18 . 54611719 0.0 A C . 1/1 0 None None None None None None None None None WDR7|0.523287964|14.85%
View axiomgt1 calls 18 . 54579097 0.0 A G . 0/1 0 None None None None None None None None None WDR7|0.523287964|14.85%
View axiomgt1 calls 18 . 54558763 0.0 G T . 0/1 0 None None None None None None None None None WDR7|0.523287964|14.85%
View axiomgt1 calls 18 . 54447839 0.0 A G . 1/1 0 None None None None None None None None None WDR7|0.523287964|14.85%
View axiomgt1 calls 18 . 54442725 0.0 G A . 0/1 0 None None None None None None None None None WDR7|0.523287964|14.85%
View axiomgt1 calls 18 . 53913410 0.0 T C . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 53806521 0.0 C T . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 53769252 0.0 T C . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 53736712 0.0 T C . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 53717830 0.0 A G . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 53610995 0.0 C T . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 53601406 0.0 G T . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 53551727 0.0 C A . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 53508329 0.0 G A . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 53503883 0.0 C A . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 53439316 0.0 T G . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 53439151 0.0 C A . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 53397339 0.0 T C . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 53318664 0.0 G T . 1/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 53318160 0.0 G A . 1/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 53314768 0.0 C T . 0/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 53308089 0.0 C T . 0/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 53284988 0.0 T C . 0/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 53279876 0.0 C T . 0/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 53251439 0.0 T G . 0/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 53207217 0.0 A G . 0/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 53188486 0.0 G A . 0/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 53106607 0.0 T G . 1/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 53100955 0.0 T C . 1/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 53096343 0.0 C T . 0/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 53076466 0.0 T G . 1/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 53076414 0.0 A G . 1/1 0 None None None None None None None None None TCF4|0.999272266|0.38%
View axiomgt1 calls 18 . 52859258 0.0 C T . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 52838622 0.0 A C . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 52691821 0.0 G A . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 52651551 0.0 C T . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 52561773 0.0 A C . 0/1 0 None None None None None None None None None RAB27B|0.46880526|17.22%
View axiomgt1 calls 18 . 52538349 0.0 T C . 0/1 0 None None None None None None None None None RAB27B|0.46880526|17.22%
View axiomgt1 calls 18 . 52488452 0.0 C T . 0/1 0 None None None None None None None None None RAB27B|0.46880526|17.22%
View axiomgt1 calls 18 . 52453574 0.0 G A . 0/1 0 None None None None None None None None None RAB27B|0.46880526|17.22%
View axiomgt1 calls 18 . 52430970 0.0 G A . 0/1 0 None None None None None None None None None RAB27B|0.46880526|17.22%
View axiomgt1 calls 18 . 52332087 0.0 C T . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 52331925 0.0 A G . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 52270434 0.0 A C . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 52016277 0.0 G A . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 52009423 0.0 T C . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 51978079 0.0 A G . 1/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 51905759 0.0 G T . 0/1 0 None None None None None None None None None C18orf54|0.085084944|54.16%
View axiomgt1 calls 18 . 51901761 0.0 T C . 0/1 0 None None None None None None None None None C18orf54|0.085084944|54.16%
View axiomgt1 calls 18 . 51853498 0.0 A G . 0/1 0 None None None None None None None None None STARD6|0.045715453|63.98%
View axiomgt1 calls 18 . 51785701 0.0 T C . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 . 51655116 0.0 T G . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 rs80222817
dbSNP Clinvar 		51511189 0.0 G A . 0/1 0 None None None None None None None None None None
View axiomgt1 calls 18 rs888328305
dbSNP Clinvar 		51508549 0.0 C T . 0/1 0 None None None None None None None None None None