SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

ACADS, ACVRL1, BCL7A, CACNA2D4, CIT, GUCY2C, KRT2, KRT8, NDUFA9, PEX5, RDH5,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)
BCL7A B-cell non-Hodgkin lymphoma, high-grade (3)
CACNA2D4 Retinal cone dystrophy 4, 610478 (3)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
GUCY2C Meconium ileus, 614665 (3)
Diarrhea 6, 614616 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
KRT8 {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
Cirrhosis, cryptogenic, 215600 (3)
NDUFA9 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
PEX5 Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)
Peroxisome biogenesis disorder 2B, 202370 (3)
Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3)
RDH5 Fundus albipunctatus, 136880 (3)

Genes at Clinical Genomics Database

ACADS, ACVRL1, CACNA2D4, CD27, GUCY2C, KRT2, LRP1, NDUFA9, PEX5, POLE, RDH5,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACVRL1 Hereditary hemorrhagic telangiectasia, type 2
CACNA2D4 Retinal cone dystrophy 4
CD27 Lymphoproliferative syndrome 2
GUCY2C Meconium ileus
Diarrhea 6
KRT2 Ichthyosis exfoliativa
Ichthyosis bullosa of Siemens
LRP1 Schizophrenia
NDUFA9 Leigh syndrome
Mitochondrial complex I deficiency
PEX5 Rhizomelic chondrodysplasia punctata, type 5
Adrenoleukodystrophy, neonatal
Zellweger syndrome
Peroxisome biogenesis disorder, 5
POLE Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
Colorectal cancer, susceptibility to, 12
RDH5 Fundus albipunctatus

Genes at HGMD

Summary

Number of Variants: 6592
Number of Genes: 100

Export to: CSV

AC126614.1

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 23 recalibrated filtered postcgp gqfiltered 12 . 57810500 220317.9 T C PASS 1/1 38 SYNONYMOUS_CODING LOW SILENT 1.29 None None None None None None None

ACADS

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 23 recalibrated filtered postcgp gqfiltered 12 . 121177227 800.63 T C PASS 0/1 65 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACVRL1

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 23 recalibrated filtered postcgp gqfiltered 12 . 52314636 6082.04 G A PASS 0/1 41 SYNONYMOUS_CODING LOW -0.35 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 52306316 64917.8 C A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93 0.00 None None None None None None None

ALKBH2

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 23 recalibrated filtered postcgp gqfiltered 12 . 109526297 12307.3 C T PASS 0/1 48 SYNONYMOUS_CODING LOW None None None None None None None

ANKRD13A

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 23 recalibrated filtered postcgp gqfiltered 12 . 110451052 1634.57 C T PASS 1/1 35 STOP_GAINED+SPLICE_SITE_REGION HIGH NONSENSE None None None None None None None

ANKRD52

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 23 recalibrated filtered postcgp gqfiltered 12 . 56638439 342.17 GA G,GAA PASS 0/1 25 FRAME_SHIFT HIGH None None None None None None None

ASIC1

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 23 recalibrated filtered postcgp gqfiltered 12 . 50475338 51408.02 C T PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.79 None None None None None None None

BAZ2A

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 23 recalibrated filtered postcgp gqfiltered 12 . 56994757 92.39 CGT C PASS 0/1 50 FRAME_SHIFT HIGH None None None None None None None

BCL7A

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 23 recalibrated filtered postcgp gqfiltered 12 . 122481826 12471.64 T C PASS 0/1 6 SYNONYMOUS_CODING LOW None None None None None None None

C12orf4

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 23 recalibrated filtered postcgp gqfiltered 12 . 4627329 119940.9 C T PASS 1/1 30 SYNONYMOUS_CODING LOW 1.62 None None None None None None None

C12orf42

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 23 recalibrated filtered postcgp gqfiltered 12 . 103670940 170.36 TA T PASS 0/1 9 None None None None None None None None None None

C12orf49

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 23 recalibrated filtered postcgp gqfiltered 12 . 117158173 46621.12 A C PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 rs747392112
dbSNP
117158125 36418.82 G A PASS 0/1 49 SYNONYMOUS_CODING LOW SILENT None None None None None None None

C12orf56

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 23 recalibrated filtered postcgp gqfiltered 12 . 64697534 1089.66 T G PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17 0.72 None None None None None None None

C2CD5

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 23 recalibrated filtered postcgp gqfiltered 12 . 22625699 668.87 C T PASS 0/1 63 SYNONYMOUS_CODING LOW None None None None None None None

CACNA2D4

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 23 recalibrated filtered postcgp gqfiltered 12 . 1918725 40.39 G A PASS 0/1 3 None None None None None None None None None None

CCDC38

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 23 recalibrated filtered postcgp gqfiltered 12 . 96282279 2327.78 T G PASS 0/1 11 SYNONYMOUS_CODING LOW None None None None None None None

CD27

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 23 recalibrated filtered postcgp gqfiltered 12 . 6560091 29102.48 T C PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.72 None None None None None None None

CDK2

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 23 recalibrated filtered postcgp gqfiltered 12 . 56362612 329.47 A C PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CIT

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 23 recalibrated filtered postcgp gqfiltered 12 . 120196486 2744.11 T C PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14 0.04 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 120151356 54996.99 A G PASS 1/1 27 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 120151048 59551.66 A G PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 120168359 87761.99 T C PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23 0.04 None None None None None None None

CLSTN3

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 23 recalibrated filtered postcgp gqfiltered 12 . 7310645 13377.52 A T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.69 None None None None None None None

COPS7A

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 23 recalibrated filtered postcgp gqfiltered 12 . 6839862 4863.03 A G PASS 1/1 124 SYNONYMOUS_CODING LOW None None None None None None None

CORO1C

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 23 recalibrated filtered postcgp gqfiltered 12 . 109052621 1406.16 C CC... PASS 0/1 37 CODON_INSERTION MODERATE None None None None None None None

DGKA

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 23 recalibrated filtered postcgp gqfiltered 12 . 56332734 168302.04 G A PASS 1/1 41 SYNONYMOUS_CODING LOW SILENT None None None None None None None

EP400

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 23 recalibrated filtered postcgp gqfiltered 12 . 132490757 251.61 A G PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE -1.03 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 132508387 266.61 G A PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None

FAIM2

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 23 recalibrated filtered postcgp gqfiltered 12 . 50283317 716.29 C A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.93 None None None None None None None

FICD

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 23 recalibrated filtered postcgp gqfiltered 12 . 108910914 1473.98 T A PASS 0/1 64 SYNONYMOUS_CODING LOW SILENT None None None None None None None

FKBP4

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 23 recalibrated filtered postcgp gqfiltered 12 . 2907936 350.07 G A PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.93 None None None None None None None

GABARAPL1

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 23 recalibrated filtered postcgp gqfiltered 12 . 10373141 183632.03 C T PASS 0/1 51 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 10373279 2472.57 G A PASS 0/1 7 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 10373045 61519.03 A G PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.14 None None None None None None None

GPR162

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 23 recalibrated filtered postcgp gqfiltered 12 . 6935484 57197.98 A AG PASS 1/1 43 FRAME_SHIFT HIGH None None None None None None None

GPRC5A

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 23 recalibrated filtered postcgp gqfiltered 12 . 13061603 74673.72 A G PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None None

GUCY2C

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 23 recalibrated filtered postcgp gqfiltered 12 . 14840920 98944.52 A G PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.91 None None None None None None None

HCAR1

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 23 recalibrated filtered postcgp gqfiltered 12 . 123214653 116764.83 GTTT G PASS 1/1 5 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

HIP1R

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 23 recalibrated filtered postcgp gqfiltered 12 . 123340842 13868.29 T C PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.86 None None None None None None None

HSD17B6

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 23 recalibrated filtered postcgp gqfiltered 12 . 57167668 16642.21 C T PASS 0/1 5 SYNONYMOUS_CODING LOW None None None None None None None

IKZF4

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 23 recalibrated filtered postcgp gqfiltered 12 . 56420786 53627.16 T G PASS 0/1 69 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 56428594 30563.38 T A PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.08 0.14 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 56428857 101397.89 G C PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.02 None None None None None None None

ITFG2

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 23 recalibrated filtered postcgp gqfiltered 12 . 2930863 9505.14 C T PASS 0/1 8 SYNONYMOUS_CODING LOW SILENT None None None None None None None

KCNH3

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 23 recalibrated filtered postcgp gqfiltered 12 . 49951193 3247.79 G A PASS 0/1 66 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 49951482 1561.58 A G PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 49951423 1509.19 G A PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.97 None None None None None None None

KIAA1467

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 23 recalibrated filtered postcgp gqfiltered 12 . 13211434 1153.63 AG A PASS 0/1 68 FRAME_SHIFT HIGH None None None None None None None

KLRB1

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 23 recalibrated filtered postcgp gqfiltered 12 . 9752400 1820.39 C T PASS 1/1 44 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 9752414 2921.94 A ACT PASS 1/1 48 FRAME_SHIFT HIGH None None None None None None None

KRT2

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 23 recalibrated filtered postcgp gqfiltered 12 . 53045572 2515.25 TG T PASS 1/1 38 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 53045355 2272.46 T A PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

KRT8

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 23 recalibrated filtered postcgp gqfiltered 12 . 53293603 4256.45 A G PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45 0.99 None None None None None None None

KRT82

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 23 recalibrated filtered postcgp gqfiltered 12 . 52790775 2509.01 C T PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 52790686 213.19 G A PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None

KRT84

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 23 recalibrated filtered postcgp gqfiltered 12 . 52777487 18126.51 G A PASS 1/1 19 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 52775260 71313.38 T C PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.80 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 52772156 83679.08 C T PASS 1/1 142 SYNONYMOUS_CODING LOW 4.63 None None None None None None None

LAG3

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 23 recalibrated filtered postcgp gqfiltered 12 . 6883871 831.79 A C PASS 0/1 14 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 6883987 3233.06 G T PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40 0.46 None None None None None None None

LEPREL2

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 23 recalibrated filtered postcgp gqfiltered 12 . 6946697 18604.91 T C PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

LPAR5

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 23 recalibrated filtered postcgp gqfiltered 12 . 6730222 859.22 G A PASS 0/1 3 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 6730287 28902.24 G A PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

LRP1

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 23 recalibrated filtered postcgp gqfiltered 12 . 57574955 8047.9 G A PASS 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 57584599 100.46 ACACG A PASS 0/1 11 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 57567711 13560.59 T C PASS 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 57591421 39367.86 C T PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 57522759 921.53 A AC... PASS 1/1 18 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

LTBR

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 23 recalibrated filtered postcgp gqfiltered 12 . 6494247 1874.16 A G PASS 0/1 185 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 6494307 125.25 TT... T,... PASS 1/2 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 6495252 48657.77 C T PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.47 None None None None None None None

MDM1

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 23 recalibrated filtered postcgp gqfiltered 12 . 68709888 2983.46 CA C,CAA PASS 0/1 11 FRAME_SHIFT HIGH None None None None None None None

MMP17

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 23 recalibrated filtered postcgp gqfiltered 12 . 132335595 854.71 CGTGT C PASS 1/1 7 FRAME_SHIFT HIGH None None None None None None None

NANOGNB

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 23 recalibrated filtered postcgp gqfiltered 12 . 7923089 10695.52 A G PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.02 None None None None None None None

NCAPD2

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 23 recalibrated filtered postcgp gqfiltered 12 . 6635698 1624.21 G C PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 6638129 35498.9 G A PASS 1/1 197 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29 0.46 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 6639927 11391.87 A G PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36 0.06 None None None None None None None

NDUFA4L2

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 23 recalibrated filtered postcgp gqfiltered 12 . 57630843 21023.61 G C PASS 1/1 81 SYNONYMOUS_CODING LOW None None None None None None None

NDUFA9

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 23 recalibrated filtered postcgp gqfiltered 12 . 4763997 60648.81 G T PASS 0/1 65 SYNONYMOUS_CODING LOW -0.06 None None None None None None None

NELL2

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 23 recalibrated filtered postcgp gqfiltered 12 . 44913850 597.08 T C PASS 0/1 31 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 45270430 2328.94 G A PASS 1/1 22 SYNONYMOUS_CODING LOW None None None None None None None

NR4A1

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 23 recalibrated filtered postcgp gqfiltered 12 . 52449882 61660.84 G A PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 52449904 16033.48 T C PASS 0/1 17 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 52448952 38630.34 T C PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT -1.38 None None None None None None None

NXPH4

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 23 recalibrated filtered postcgp gqfiltered 12 . 57619392 905.86 G A PASS 1/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None None

OR6C6

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 23 recalibrated filtered postcgp gqfiltered 12 . 55689001 23373.64 C G PASS 1/1 157 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 55688722 5353.03 CAAA CA... PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 55688736 854.85 A G PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 55688617 13.72 G A PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

ORMDL2

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 23 recalibrated filtered postcgp gqfiltered 12 . 56213205 16.04 G GT PASS 0/1 3 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 rs775355921
dbSNP
56214143 74987.73 C T PASS 1/1 59 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 56213233 50.44 C T PASS 0/1 2 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

PAN2

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 23 recalibrated filtered postcgp gqfiltered 12 . 56712876 221388.09 A T PASS 1/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 56720523 44202.84 A T PASS 1/1 40 SYNONYMOUS_CODING LOW SILENT 1.34 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 56718096 374.37 GG... G PASS 1/1 9 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 56718853 26816.84 G A PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

PEX5

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 23 recalibrated filtered postcgp gqfiltered 12 . 7354865 3213.11 A G PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.01 None None None None None None None

PITPNM2

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 23 recalibrated filtered postcgp gqfiltered 12 . 123471298 1676.6 C T PASS 0/1 74 STOP_GAINED HIGH NONSENSE None None None None None None None