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EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

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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, SCAPER,
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)

Genes at Clinical Genomics Database

ERCC6L2, HIBCH,
ERCC6L2 Bone marrow failure syndrome 2
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency

Genes at HGMD

Summary

Number of Variants: 13
Number of Genes: 13

Export to: CSV
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AC110781.3

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 goku_snps_indels 7 rs3889573
dbSNP Clinvar
1878377 1556.77 A G PASS 1/1 53 START_LOST HIGH None 0.83646 0.83650 0.00 None None None None None None MAD1L1|0.134111219|45.25%

ACTL7B

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 goku_snps_indels 9 rs17728850
dbSNP Clinvar
111618209 860.77 A G PASS 0/1 73 START_LOST HIGH None 0.06989 0.06989 0.09180 0.00 0.94 None None None None None None ACTL7B|0.043315867|64.73%

C11orf21

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 goku_snps_indels 11 rs188839109
dbSNP Clinvar
2323089 1508.77 C T PASS 0/1 111 START_LOST HIGH None 0.00559 0.00559 0.01007 0.00 0.04 None None None None None None C11orf21|0.000478003|98.55%

DPPA4

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 goku_snps_indels 3 rs16855561
dbSNP Clinvar
109056363 1896.77 A G PASS 0/1 179 START_LOST HIGH None 0.05092 0.05092 0.06120 0.03 0.00 None None None None None None DPPA4|0.001219572|94.35%

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 goku_snps_indels 9 rs690528
dbSNP Clinvar
98638288 138.77 A G PASS 0/1 16 START_LOST HIGH None 0.25240 0.25240 0.24126 0.71 0.02 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 goku_snps_indels 19 rs56166910
dbSNP Clinvar
52223180 226.77 A G PASS 0/1 18 START_LOST HIGH None 0.44169 0.44170 0.31876 0.12 0.02 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 goku_snps_indels 2 rs291466
dbSNP Clinvar
191184475 1897.77 A G PASS 1/1 66 START_LOST HIGH None 0.43171 0.43170 0.44810 0.01 0.04 None None None None None None HIBCH|0.096813865|51.74%

IGLV3-12

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 goku_snps_indels 22 rs6003299
dbSNP Clinvar
23114327 1319.77 T C PASS 0/1 102 START_LOST HIGH None 0.60863 0.60860 0.00 0.95 None None None None None None None

LENG9

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 goku_snps_indels 19 rs1981829
dbSNP Clinvar
54974774 268.77 A T PASS 0/1 22 START_LOST HIGH None 0.59365 0.59370 0.02 0.00 None None None None None None LENG9|0.000334699|99.27%

OR52H1

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 goku_snps_indels 11 rs114189564
dbSNP Clinvar
5566751 695.77 C A PASS 0/1 93 START_LOST HIGH None 0.00240 0.00240 0.00477 0.32 0.00 None None None None None None HBG2|0.024133976|72.16%,OR52H1|0.063963699|58.89%

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 goku_snps_indels 11 rs1905055
dbSNP Clinvar
56113516 8586.77 T C PASS 1/1 265 START_LOST HIGH None 0.77995 0.78000 0.32099 0.00 0.02 None None None None None None OR8K1|0.005619396|85.08%

OTOP3

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 goku_snps_indels 17 rs368367098
dbSNP Clinvar
72931898 347.77 T C PASS 0/1 34 START_LOST HIGH None 0.00040 0.00040 0.00278 0.02 0.00 None None None None None None OTOP3|0.040904802|65.46%

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 goku_snps_indels 15 rs3812908
dbSNP Clinvar
77176158 956.77 T C PASS 0/1 89 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%
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