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INDIVIDUALS:

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INDIVIDUALS:

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OMIM:
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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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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 at Omim

ERCC6L2, HIBCH, NHS, SCAPER,
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
NHS Cataract 40, X-linked, 302200 (3)
Nance-Horan syndrome, 302350 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)

Genes at Clinical Genomics Database

ATP6V1B1, ERCC6L2, HIBCH, NHS,
ATP6V1B1 Renal tubular acidosis with deafness
ERCC6L2 Bone marrow failure syndrome 2
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
NHS Nance-Horan syndrome
Cataract 40

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 10

Export to: CSV
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ATP6V1B1

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 044_tsvc_variants 2 rs11681642
dbSNP Clinvar
71163086 209.88 T C PASS 1/1 20 START_LOST HIGH None 0.36881 0.36880 0.41504 0.00 0.60 None None None None None None ATP6V1B1|0.123167959|46.96%

ERCC6L2

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 044_tsvc_variants 9 rs690528
dbSNP Clinvar
98638288 388.53 A G PASS 0/1 203 START_LOST HIGH None 0.25240 0.25240 0.24126 0.71 0.00 None None None None None None ERCC6L2|0.051614036|62.16%

HAS1

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 044_tsvc_variants 19 rs56166910
dbSNP Clinvar
52223180 575.1 A G PASS 0/1 288 START_LOST HIGH None 0.44169 0.44170 0.31876 0.12 0.00 None None None None None None HAS1|0.18273667|38.7%

HIBCH

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 044_tsvc_variants 2 rs291466
dbSNP Clinvar
191184475 1268.54 A G PASS 1/1 134 START_LOST HIGH None 0.43171 0.43170 0.44810 0.01 0.02 None None None None None None HIBCH|0.096813865|51.74%

KRTAP9-1

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 044_tsvc_variants 17 rs61743546
dbSNP Clinvar
39346139 82.44 A G PASS 0/1 33 START_LOST HIGH None 0.14357 0.14360 0.60 0.00 None None None None None None KRTAP9-1|0.001839367|91.43%

NHS

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 044_tsvc_variants X . 17393883 15.78 G A PASS 0/1 7 START_LOST HIGH None 0.00 0.92 None None None None None None NHS|0.894481224|3.57%

OR8K1

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 044_tsvc_variants 11 rs1905055
dbSNP Clinvar
56113516 375.71 T C PASS 1/1 39 START_LOST HIGH None 0.77995 0.78000 0.32099 0.00 0.01 None None None None None None OR8K1|0.005619396|85.08%

PRAM1

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 044_tsvc_variants 19 rs968502
dbSNP Clinvar
8567475 142.69 T C PASS 1/1 16 START_LOST HIGH None 0.31190 0.31190 0.28596 1.00 0.00 None None None None None None PRAM1|0.002623515|89.43%

SCAPER

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 044_tsvc_variants 15 rs3812908
dbSNP Clinvar
77176158 259.77 T C PASS 0/1 106 START_LOST HIGH None 0.41773 0.41770 0.29627 0.15 0.00 None None None None None None SCAPER|0.365657343|23.01%

TMPRSS11A

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 044_tsvc_variants 4 rs977728
dbSNP Clinvar
68829109 113.91 C T PASS 0/1 57 START_LOST HIGH None 0.20328 0.20330 0.15501 0.09 0.05 None None None None None None TMPRSS11A|0.035872447|67.18%
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