SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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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 at Omim

ASS1, COQ4, CRAT, FBP1, PMPCA, SARDH,
ASS1 Citrullinemia, 215700 (3)
COQ4 Coenzyme Q10 deficiency, primary, 7, 616276 (3)
CRAT ?Neurodegeneration with brain iron accumulation 8, 617917 (3)
FBP1 Fructose-1,6-bisphosphatase deficiency, 229700 (3)
PMPCA Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
SARDH [Sarcosinemia], 268900 (3)

Genes at Clinical Genomics Database

ASS1, COQ4, FBP1, PMPCA,
ASS1 Citrullinemia
COQ4 Coenzyme Q10 deficiency 7
FBP1 Fructose-1,6-bisphosphatase deficiency
PMPCA Spinocerebellar ataxia, autosomal recessive 2

Genes at HGMD

Summary

Number of Variants: 35
Number of Genes: 16

Export to: CSV
  • Page 1 of 1

ACO1

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 gpp10314_20120828021333_nucseek 9 rs3780473
dbSNP Clinvar
32425910 2461.01 A G PASS 0/1 165 SYNONYMOUS_CODING LOW None 0.35383 0.35380 0.32693 None None None None None None ACO1|0.412115925|20.03%

ALDH1B1

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 gpp10314_20120828021333_nucseek 9 rs2228094
dbSNP Clinvar
38395940 26885.01 T C PASS 1/1 951 SYNONYMOUS_CODING LOW None 0.93670 0.93670 0.07919 None None None None None None ALDH1B1|0.096225216|51.9%
View gpp10314_20120828021333_nucseek 9 rs4878199
dbSNP Clinvar
38396502 7291.01 G A PASS 1/1 307 NON_SYNONYMOUS_CODING MODERATE None 0.93850 0.93850 0.07812 1.00 0.00 None None None None None None ALDH1B1|0.096225216|51.9%
View gpp10314_20120828021333_nucseek 9 rs2073478
dbSNP Clinvar
38396065 6980.01 G T PASS 0/1 397 NON_SYNONYMOUS_CODING MODERATE None 0.39497 0.39500 0.49669 0.00 0.13 None None None None None None ALDH1B1|0.096225216|51.9%

ASS1

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 gpp10314_20120828021333_nucseek 9 rs1057484
dbSNP Clinvar
133364757 5164.01 T C PASS 0/1 461 SYNONYMOUS_CODING LOW None 0.07668 0.07668 0.10288 None None None None None None ASS1|0.463790404|17.47%

COQ4

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 gpp10314_20120828021333_nucseek 9 rs3003601
dbSNP Clinvar
131085373 13928.01 G C PASS 1/1 511 NON_SYNONYMOUS_CODING MODERATE None 0.99800 0.99800 0.00295 1.00 0.00 None None None None None None COQ4|0.009066035|81.6%

CRAT

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 gpp10314_20120828021333_nucseek 9 rs3118635
dbSNP Clinvar
131860901 14443.01 G T PASS 1/1 639 NON_SYNONYMOUS_CODING MODERATE None 0.99641 0.99640 0.00400 1.00 0.00 None None None None None None CRAT|0.115517986|48.2%

ENDOG

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 gpp10314_20120828021333_nucseek 9 rs2293969
dbSNP Clinvar
131580998 594.0 C T PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.59784 0.59780 0.72 0.00 None None None None None None ENDOG|0.26176531|30.59%

FBP1

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 gpp10314_20120828021333_nucseek 9 rs1769257
dbSNP Clinvar
97365720 15845.01 T C PASS 1/1 400 SYNONYMOUS_CODING LOW None 0.90715 0.90710 0.11472 None None None None None None FBP1|0.199003275|36.83%
View gpp10314_20120828021333_nucseek 9 rs1042144
dbSNP Clinvar
97369151 4061.01 G A PASS 0/1 422 SYNONYMOUS_CODING LOW None 0.35244 0.35240 0.31147 None None None None None None FBP1|0.199003275|36.83%
View gpp10314_20120828021333_nucseek 9 rs1769259
dbSNP Clinvar
97369149 9458.01 C T PASS 1/1 422 NON_SYNONYMOUS_CODING MODERATE None 0.97644 0.97640 0.04559 1.00 0.00 None None None None None None FBP1|0.199003275|36.83%

FPGS

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 gpp10314_20120828021333_nucseek 9 rs10760502
dbSNP Clinvar
130565267 381.0 A G PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.78115 0.78120 0.21572 0.52 0.00 None None None None None None FPGS|0.103779441|50.46%

NDUFA8

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 gpp10314_20120828021333_nucseek 9 rs4679
dbSNP Clinvar
124914613 13230.01 C T PASS 0/1 1316 SYNONYMOUS_CODING LOW None 0.33786 0.33790 0.45879 None None None None None None NDUFA8|0.281361868|29.02%

NIPSNAP3A

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 gpp10314_20120828021333_nucseek 9 rs2274870
dbSNP Clinvar
107515214 5725.01 G A PASS 0/1 579 NON_SYNONYMOUS_CODING MODERATE None 0.63758 0.63760 0.32431 0.05 0.50 None None None None None None NIPSNAP3A|0.053276864|61.72%

NIPSNAP3B

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 gpp10314_20120828021333_nucseek 9 rs3739741
dbSNP Clinvar
107533175 7804.01 C G PASS 0/1 629 NON_SYNONYMOUS_CODING MODERATE None 0.17612 0.17610 0.14070 0.00 0.65 None None None None None None NIPSNAP3B|0.0143573|77.59%
View gpp10314_20120828021333_nucseek 9 rs10761084
dbSNP Clinvar
107531152 8016.01 G C PASS 0/1 666 NON_SYNONYMOUS_CODING MODERATE None 0.17772 0.17770 0.14086 0.00 0.96 None None None None None None NIPSNAP3B|0.0143573|77.59%

PMPCA

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 gpp10314_20120828021333_nucseek 9 rs10870144
dbSNP Clinvar
139306467 7276.01 C T PASS 0/1 534 SYNONYMOUS_CODING LOW None 0.13898 0.13900 0.13286 None None None None None None PMPCA|0.048027366|63.32%

PTGES2

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 gpp10314_20120828021333_nucseek 9 rs2040004
dbSNP Clinvar
130883511 2604.0 C T PASS 1/1 117 SYNONYMOUS_CODING LOW None 0.93510 0.93510 0.06963 None None None None None None PTGES2|0.069133036|57.69%

PTRH1

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 gpp10314_20120828021333_nucseek 9 rs150422298
dbSNP Clinvar
130476540 1152.01 C A PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None PTRH1|0.053972613|61.48%,C9orf117|0.003242017|88.26%

SARDH

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 gpp10314_20120828021333_nucseek 9 rs886016
dbSNP Clinvar
136555629 332.01 T C PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.55451 0.55450 0.48247 1.00 0.00 None None None None None None SARDH|0.055038461|61.17%
View gpp10314_20120828021333_nucseek 9 rs2073817
dbSNP Clinvar
136559460 8692.01 C T PASS 0/1 698 NON_SYNONYMOUS_CODING MODERATE None 0.37061 0.37060 0.32080 0.19 0.02 None None None None None None SARDH|0.055038461|61.17%
View gpp10314_20120828021333_nucseek 9 rs2502740
dbSNP Clinvar
136561367 13710.01 G A PASS 0/1 1164 SYNONYMOUS_CODING LOW None 0.27587 None None None None None None SARDH|0.055038461|61.17%
View gpp10314_20120828021333_nucseek 9 rs2073815
dbSNP Clinvar
136573412 381.01 G A PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.42392 0.42390 0.47455 None None None None None None SARDH|0.055038461|61.17%

SLC25A25

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 gpp10314_20120828021333_nucseek 9 rs947624
dbSNP Clinvar
130860866 24198.01 T C PASS 1/1 788 None None None 0.95427 0.95430 0.05451 None None None None None None SLC25A25|0.261649443|30.61%
View gpp10314_20120828021333_nucseek 9 rs7859709
dbSNP Clinvar
130864676 32767.01 T C PASS 1/1 1580 SYNONYMOUS_CODING LOW None 0.95427 0.95430 0.05451 None None None None None None SLC25A25|0.261649443|30.61%
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 gpp10314_20120828021333_nucseek 9 rs2488553
dbSNP Clinvar
136599315 11112.01 G A PASS 0/1 1159 START_GAINED LOW None 0.60264 0.60260 0.33633 None None None None None None SARDH|0.055038461|61.17%
View gpp10314_20120828021333_nucseek 9 rs6822
dbSNP Clinvar
124906456 1509.01 C T PASS 0/1 99 None None None 0.25899 0.25900 None None None None None None NDUFA8|0.281361868|29.02%
View gpp10314_20120828021333_nucseek 9 rs2228098
dbSNP Clinvar
6533010 4630.01 C G PASS 0/1 519 None None None 0.75519 0.75520 0.34807 None None None None None None None
View gpp10314_20120828021333_nucseek 9 rs5843
dbSNP Clinvar
113006420 93.97 A G PASS 1/1 6 None None None 0.69229 0.69230 0.42663 None None None None None None TXN|0.913573379|3.14%
View gpp10314_20120828021333_nucseek 9 rs9695
dbSNP Clinvar
97365642 3905.01 G A PASS 0/1 249 None None None 0.48702 0.48700 0.49439 None None None None None None FBP1|0.199003275|36.83%
View gpp10314_20120828021333_nucseek 9 rs2229419
dbSNP Clinvar
131857630 5495.01 C T PASS 0/1 512 None None None 0.37740 0.37740 0.36094 None None None None None None CRAT|0.115517986|48.2%
View gpp10314_20120828021333_nucseek 9 rs2490582
dbSNP Clinvar
79009106 1118.0 A C PASS 1/1 37 START_GAINED LOW None 0.99940 0.99940 0.00094 None None None None None None RFK|0.049264247|62.87%
View gpp10314_20120828021333_nucseek 9 rs11278777,rs869199847
dbSNP Clinvar
131872847 25138.0 GC... G PASS 0/1 669 None None None 0.37181 0.37180 0.35679 None None None None None None CRAT|0.115517986|48.2%
View gpp10314_20120828021333_nucseek 9 rs3118624
dbSNP Clinvar
131872975 2775.0 A C PASS 1/1 72 START_GAINED LOW None 0.99641 0.99640 None None None None None None CRAT|0.115517986|48.2%
View gpp10314_20120828021333_nucseek 9 rs664357
dbSNP Clinvar
35100002 7602.01 T C PASS 1/1 182 None None None 0.98343 0.98340 0.01907 None None None None None None STOML2|0.651061922|10.07%
  • Page 1 of 1