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INDIVIDUALS:

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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

APOL4, HIBCH, MTTP, SCAPER,
APOL4 {Schizophrenia}, 181500 (1)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
MTTP {Metabolic syndrome, protection against}, 605552 (3)
Abetalipoproteinemia, 200100 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)

Genes at Clinical Genomics Database

ATP6V1B1, HIBCH, MTTP,
ATP6V1B1 Renal tubular acidosis with deafness
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
MTTP Abetalipoproteinemia

Genes at HGMD

Summary

Number of Variants: 15
Number of Genes: 15

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 combined sample_99.variant44 7 rs3889573
dbSNP Clinvar
1878377 2763.88 A G PASS 0/1 136 START_LOST HIGH None 0.83646 0.83650 0.00 None None None None None None MAD1L1|0.134111219|45.25%

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 combined sample_99.variant44 22 rs6000181
dbSNP Clinvar
36598081 1103.55 A T PASS 0/1 112 START_LOST HIGH None 0.07668 0.07668 0.08435 0.00 0.40 None None None None None None APOL4|0.000586223|97.99%

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 combined sample_99.variant44 2 rs11681642
dbSNP Clinvar
71163086 3781.72 T C PASS 1/1 133 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%

C7orf33

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 combined sample_99.variant44 7 rs62624492
dbSNP Clinvar
148288020 1873.07 G T PASS 0/1 133 START_LOST HIGH None 0.02736 0.02736 0.02653 0.00 0.04 None None None None None None C7orf33|0.000614508|97.83%

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 combined sample_99.variant44 2 rs291466
dbSNP Clinvar
191184475 7267.53 A G PASS 0/1 291 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 combined sample_99.variant44 22 rs6003299
dbSNP Clinvar
23114327 1326.6 T C PASS 1/1 162 START_LOST HIGH None 0.60863 0.60860 0.00 0.95 None None None None None None None

JSRP1

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 combined sample_99.variant44 19 rs7250822
dbSNP Clinvar
2255311 1442.32 C G PASS 0/1 108 START_LOST HIGH None 0.23482 0.23480 0.15601 0.90 0.00 None None None None None None JSRP1|0.001614314|92.27%

KCNJ16

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 combined sample_99.variant44 17 rs7224070
dbSNP Clinvar
68093044 3385.84 A G PASS 1/1 108 START_LOST HIGH None 0.83107 0.83110 0.00 None None None None None None KCNJ16|0.085500733|54.06%

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 combined sample_99.variant44 17 rs61743546
dbSNP Clinvar
39346139 472.23 A G PASS 0/1 62 START_LOST HIGH None 0.14357 0.14360 0.60 0.00 None None None None None None KRTAP9-1|0.001839367|91.43%

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 combined sample_99.variant44 19 rs1981829
dbSNP Clinvar
54974774 1533.61 A T PASS 0/1 109 START_LOST HIGH None 0.59365 0.59370 0.02 0.00 None None None None None None LENG9|0.000334699|99.27%

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 combined sample_99.variant44 4 rs11944752
dbSNP Clinvar
100485255 1777.95 G A PASS 0/1 91 START_LOST HIGH None 0.25000 0.25000 0.00 None None None None None None MTTP|0.164689629|40.96%

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 combined sample_99.variant44 11 rs1905055
dbSNP Clinvar
56113516 4227.6 T C PASS 1/1 220 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%

RP11-1396O13.13

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 combined sample_99.variant44 4 rs73801256
dbSNP Clinvar
9390708 735.83 A T PASS 0/1 62 START_LOST HIGH None 0.10623 0.10620 0.00 0.02 None None None None None None None

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 combined sample_99.variant44 15 rs3812908
dbSNP Clinvar
77176158 485.66 T C PASS 0/1 62 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%

USP17L17

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 combined sample_99.variant44 4 rs758355781
dbSNP Clinvar
9245606 802.34 T G DRAGENHardSNP 0/1 193 START_LOST HIGH None 0.00 1.00 None None None None None None USP17L17|0.00170603|91.84%
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