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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

APOL4, ERCC6L2, HIBCH,
APOL4 {Schizophrenia}, 181500 (1)
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)

Genes at Clinical Genomics Database

ATP6V1B1, ERCC6L2, HIBCH, MTTP,
ATP6V1B1 Renal tubular acidosis with deafness
ERCC6L2 Bone marrow failure syndrome 2
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
MTTP Abetalipoproteinemia

Genes at HGMD

Summary

Number of Variants: 17
Number of Genes: 17

Export to: CSV

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 mm170241ct 7 rs3889573
dbSNP
1878377 505.77 A G . 0/1 34 START_LOST HIGH MISSENSE 0.83646 0.83650 0.00 None None None None None None None

ANXA9

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 mm170241ct 1 rs267731
dbSNP
150955582 172.77 A G . 0/1 16 START_LOST HIGH MISSENSE 0.00699 0.00699 0.02760 0.03 0.99 None None None None None None None

APOL4

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 mm170241ct 22 rs6000181
dbSNP
36598081 1335.77 A T . 1/1 43 START_LOST HIGH MISSENSE 0.07668 0.07668 0.08435 0.00 0.40 None None None None None None None

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 mm170241ct 2 rs11681642
dbSNP
71163086 386.77 T C . 0/1 31 START_LOST HIGH MISSENSE 0.36881 0.36880 0.41504 0.00 0.60 None None None None None None None

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 mm170241ct 3 rs16855561
dbSNP
109056363 1545.77 A G . 0/1 99 START_LOST HIGH MISSENSE 0.05092 0.05092 0.06120 0.03 0.00 None None None None None None None

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 mm170241ct 9 rs690528
dbSNP
98638288 137.77 A G . 0/1 21 START_LOST HIGH MISSENSE 0.25240 0.25240 0.24126 0.71 0.02 None None None None None None None

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 mm170241ct 2 rs291466
dbSNP
191184475 546.77 A G . 0/1 57 START_LOST HIGH MISSENSE 0.43171 0.43170 0.44810 0.01 0.04 None None None None None None None

IGHV3-23

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 mm170241ct 14 rs781968724
dbSNP
106725653 105.77 A T . 0/1 95 START_LOST HIGH MISSENSE 0.00 0.96 None None None None None None None

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 mm170241ct 22 rs6003299
dbSNP
23114327 198.77 T C . 0/1 15 START_LOST HIGH MISSENSE 0.60863 0.60860 0.00 0.95 None None None None None None None

MTTP

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 mm170241ct 4 rs11944752
dbSNP
100485255 378.77 G A . 0/1 23 START_LOST HIGH MISSENSE 0.25000 0.25000 0.00 None None None None None None None

NAIF1

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 mm170241ct 9 . 130829378 458.77 C T . 0/1 30 START_LOST HIGH MISSENSE 0.02 0.01 None None None None None None None

NCCRP1

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 mm170241ct 19 rs767664580
dbSNP
39687624 12.77 T G LowQual 1/1 1 START_LOST HIGH MISSENSE 0.00 0.23 None None None None None None None

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 mm170241ct 11 rs1905055
dbSNP
56113516 2198.77 T C . 0/1 168 START_LOST HIGH MISSENSE 0.77995 0.78000 0.32099 0.00 0.02 None None None None None None None

PPP5D1

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 mm170241ct 19 rs117306460
dbSNP
47104226 610.77 T C . 0/1 48 START_LOST HIGH MISSENSE 0.00359 0.00359 0.00 0.02 None None None None None None None

RP11-351M8.1

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 mm170241ct 15 rs28450224
dbSNP
81201994 576.77 T C . 0/1 41 START_LOST HIGH MISSENSE 0.07927 0.07927 0.00 None None None None None None None

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 mm170241ct 4 rs977728
dbSNP
68829109 10296.77 C T . 1/1 310 START_LOST HIGH MISSENSE 0.20328 0.20330 0.15501 0.09 0.00 None None None None None None None

ZNF211

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 mm170241ct 19 rs9749449
dbSNP
58144715 475.77 A G . 0/1 25 START_LOST HIGH MISSENSE 0.21446 0.21450 0.15526 1.00 0.00 None None None None None None None