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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

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 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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 EXCLUDE GROUPS:

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SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
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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 1

Genes:
ATP10D,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

ATP10D
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs33995001
dbSNP Clinvar 		47514685 19788.93 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.30491 0.30490 0.38967 0.05 0.07 None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs7683838
dbSNP Clinvar 		47525054 7598.93 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.09285 0.09285 0.13986 0.48 0.06 None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs34208443
dbSNP Clinvar 		47560002 12318.93 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.07728 0.07728 0.14232 0.22 0.10 None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 47565780 78.15 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 0/1 62 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.05 0.07 None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4145944
dbSNP Clinvar 		47593283 15233.93 G C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.37700 0.37700 0.43957 1.00 0.00 None None None None None None ATP10D|0.06998296|57.49%
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