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INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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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
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Genes at Omim

ADAM17, AGPS, AGXT, C2orf71, CAD, CCDC88A, COL6A3, EIF2AK3, FN1, IL1B, KLF11, NBAS, NDUFA10, NEB, NLRC4, OTOF, SNRNP200, TTN, VIL1,
ADAM17 ?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3)
AGPS Rhizomelic chondrodysplasia punctata, type 3, 600121 (3)
AGXT Hyperoxaluria, primary, type 1, 259900 (3)
C2orf71 Retinitis pigmentosa 54, 613428 (3)
CAD ?Congenital disorder of glycosylation, type Iz, 616457 (3)
CCDC88A PEHO syndrome, 260565 (3)
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
FN1 Glomerulopathy with fibronectin deposits 2, 601894 (3)
Plasma fibronectin deficiency, 614101 (1)
IL1B {Gastric cancer risk after H. pylori infection}, 137215 (3)
KLF11 Maturity-onset diabetes of the young, type VII, 610508 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NDUFA10 ?Leigh syndrome, 256000 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
NLRC4 ?Familial cold autoinflammatory syndrome 4, 616115 (3)
Autoinflammation with infantile enterocolitis, 616050 (3)
OTOF Auditory neuropathy, autosomal recessive, 1, 601071 (3)
Deafness, autosomal recessive 9, 601071 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, type 2J, 608807 (3)
Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
VIL1 Cholestasis, progressive canalicular (1)

Genes at Clinical Genomics Database

ADAM17, AGPS, AGXT, ATP6V1B1, CAD, COL6A3, EIF2AK3, FN1, KLF11, NBAS, NDUFA10, NEB, NLRC4, OTOF, SNRNP200, TTN,
ADAM17 Inflammatory skin and bowel disease, neonatal 1
AGPS Rhizomelic chondrodysplasia punctata, type 3
AGXT Hyperoxaluria, primary, type 1
ATP6V1B1 Renal tubular acidosis with deafness
CAD Congenital disorder of glycosylation, type Iz
COL6A3 Dystonia 27
Bethlem myopathy 1
Ullrich congenital muscular dystrophy 1
EIF2AK3 Wolcott-Rallison syndrome
Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
FN1 Glomerulopathy with fibronectin deposits 2
KLF11 Maturity-onset diabetes of the young, type VII
NBAS Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
Infantile liver failure syndrome 2
NDUFA10 Leigh syndrome
Mitochondrial complex I deficiency
NEB Nemaline myopathy 2
NLRC4 Familial cold autoinflammatory syndrome 4
Autoinflammation with infantile enterocolitis (AIFEC)
OTOF Neuropathy, autosomal recessive, 1
Deafness, autosomal recessive 9
SNRNP200 Retinitis pigmentosa 33
TTN Cardiomyopathy, dilated, 1G
Cardiomyopathy, familial hypertrophic 9

Genes at HGMD

Summary

Number of Variants: 8558
Number of Genes: 88

Export to: CSV

AC079354.1

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 2 . 202955552 9495.22 T C PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

AC079612.1

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 2 . 240500603 26101.67 T C PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 240500392 3590.35 C A PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AC104809.3

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 23 recalibrated filtered postcgp gqfiltered 2 . 241871857 4936.03 G A PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57 0.00 1.32 None None None None None None None

ACP1

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 2 rs11553746
dbSNP
272203 19369.17 C T PASS 0/1 86 None None None 0.24341 0.24340 0.28541 1.29 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 rs79716074
dbSNP
277003 28443.2 A G PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26418 0.26420 0.30346 0.12 0.05 1.27 None None rs79716074 2 ACID_PHOSPHATASE_1,_SOLUBLE,_A/B_POLYMORPHISM_OF 0 None

ADAM17

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 2 . 9630460 956.07 G GC... PASS 0/1 63 CODON_INSERTION MODERATE None None None None None None None

AGPS

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 2 . 178285022 500.23 A G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

AGXT

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 2 . 241817000 15711.89 A G PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None

AMER3

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 2 . 131520389 5281.26 T C PASS 1/1 88 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 131521614 1234.46 A G PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 131521473 206.64 G T PASS 0/1 11 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 131520411 2636.51 G A PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 rs762042767
dbSNP
131520113 20314.64 C T PASS 1/1 219 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANAPC1

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 2 . 112588931 639.42 C T PASS 0/1 27 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 112588935 27077.71 A C PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.96 None None None None None None None

AOX1

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 2 . 201480753 1600.19 C A PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70 0.00 None None None None None None None

ARID5A

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 2 . 97217350 2116.02 A G PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.94 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 97217357 2124.75 T G PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT -0.81 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 23 recalibrated filtered postcgp gqfiltered 2 . 71189935 25979.23 G T PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.81 None None None None None None None

C2orf44

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 2 . 24261281 79667.4 T C PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.65 None None None None None None None

C2orf57

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 2 . 232458467 15438.54 T C PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

C2orf71

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 2 . 29296756 21552.95 C T PASS 1/1 25 SYNONYMOUS_CODING LOW None None None None None None None

CAD

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 2 . 27460932 29.63 CA C PASS 0/1 10 FRAME_SHIFT HIGH None None None None None None None

CAPN13

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 2 . 30966438 1236.72 T C PASS 0/1 12 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 rs775062145
dbSNP
30966370 3233.06 G A PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.85 None None None None None None None

CCDC88A

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 2 . 55646166 9005.03 T A PASS 1/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

CHST10

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 2 . 101019076 6741.91 C T PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48 0.00 None None None None None None None

COL6A3

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 2 . 238253397 561.63 A G PASS 0/1 41 SYNONYMOUS_CODING LOW -0.41 None None None None None None None

COPS7B

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 2 . 232672216 15032.5 T C PASS 0/1 125 SYNONYMOUS_CODING LOW None None None None None None None

COPS8

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 2 . 237994668 73655.2 C T PASS 1/1 39 STOP_GAINED HIGH NONSENSE None None None None None None None

CRIM1

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 2 . 36774258 735.57 C CT PASS 0/1 23 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 36774243 680.29 CT... C PASS 0/1 22 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 36774261 735.6 A G PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.95 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 36774259 735.48 A C PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.14 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 36774256 680.87 G T PASS 0/1 23 SYNONYMOUS_CODING LOW None None None None None None None

DLX2

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 2 . 172967206 7092.87 C T PASS 0/1 21 SYNONYMOUS_CODING LOW None None None None None None None

DNAH7

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 2 . 196729479 72175.97 G C PASS 0/1 50 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DUSP28

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 2 . 241500806 19051.98 G A PASS 0/1 103 SYNONYMOUS_CODING LOW SILENT None None None None None None None

EGR4

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 2 . 73519796 49355.17 C T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

EIF2AK3

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 2 . 88861810 29363.44 C G PASS 0/1 75 SYNONYMOUS_CODING LOW None None None None None None None

EML6

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 2 . 55177789 28652.22 C T PASS 0/1 59 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE None None None None None None None

FAM110C

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 2 rs4241318
dbSNP
45895 8229.45 A G PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99920 0.99920 0.00235 0.62 0.00 -0.48 None None None None None None None

FBXO36

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 2 . 230875561 36379.46 A G PASS 1/1 6 SYNONYMOUS_CODING LOW None None None None None None None

FN1

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 2 . 216257679 2320.34 T C PASS 1/1 4 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 216257687 2596.09 T C PASS 1/1 5 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None

FSIP2

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 2 . 186678500 441.64 G C PASS 0/1 10 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 186667283 26897.34 G T PASS 0/1 33 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 186665096 12628.92 ATT AT... PASS 1/1 6 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 186656533 5188.68 C A PASS 0/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 186667690 154890.4 G A PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45 2.39 None None None None None None None

GPAT2

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 2 . 96687988 1067.16 G A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

GPR113

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 2 . 26539820 1123.27 T C PASS 1/1 15 SYNONYMOUS_CODING LOW SILENT None None None None None None None

GRB14

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 2 . 165365059 8434.71 TGG TG,T PASS 0/1 5 None None None None None None None None None None

HDLBP

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 2 . 242169649 204.13 A G PASS 0/1 12 SYNONYMOUS_CODING LOW None None None None None None None

HNRNPLL

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 2 . 38818743 7096.11 C T PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

IGKV3D-15

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 2 . 90154172 23297.05 G A VQSRTrancheSNP99.90to100.00 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.73 None None None None None None None

IL1B

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 2 . 113588954 723.64 A G PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 113588990 851.79 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.13 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 113588907 481.1 C T PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.87 None None None None None None None

INPP4A

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 2 . 99156102 1637.16 C T PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 99162522 199379.15 T C PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25 0.70 None None None None None None None

KLF11

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 2 . 10192413 263.84 A G PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None

MAP4K4

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 2 . 102452374 16536.86 T A PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 102503720 18201.94 C T PASS 0/1 52 None None None None None None None None None None

MEMO1

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 2 . 32235279 40282.6 A G PASS 1/1 4 None None None None None None None None None None

MFSD6

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 2 . 191362182 23205.63 G C,A PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 1.00 None None None None None None None

MLTK

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 2 . 174123461 1603.34 C T PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

NBAS

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 2 . 15536579 2693.39 TA TA... PASS 0/1 9 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 15613358 7961.85 C G PASS 0/1 31 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 15536562 166347.8 G A PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 15467889 19734.51 C A PASS 1/1 6 SYNONYMOUS_CODING LOW None None None None None None None

NDUFA10

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 2 . 240929539 1320.7 G A PASS 0/1 8 SYNONYMOUS_CODING LOW SILENT None None None None None None None

NEB

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 2 . 152521945 76855.11 T C PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 None None None None None None None

NFE2L2

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 2 . 178129290 829.8 T C PASS 0/1 25 SYNONYMOUS_CODING LOW None None None None None None None

NIF3L1

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 2 . 201761902 4483.03 A C PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.87 None None None None None None None

NLRC4

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 2 . 32477493 7085.57 G A PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.94 None None None None None None None

NMI

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 2 . 152132096 35643.63 C CT PASS 0/1 75 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 152135401 888.43 AT A PASS 0/1 9 FRAME_SHIFT HIGH None None None None None None None

NOL10

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 2 . 10797917 11826.74 T G PASS 0/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.00 None None None None None None None

NRBP1

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 2 . 27664167 55736.57 C A PASS 1/1 104 SYNONYMOUS_CODING LOW -0.68 None None None None None None None

NRP2

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 2 . 206587427 43216.61 GT G PASS 1/1 25 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 206562377 2911.57 A T PASS 0/1 13 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 206607959 1063.24 C CTA PASS 1/1 19 FRAME_SHIFT HIGH None None None None None None None

ORC2

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 2 . 201807420 22095.19 G GA PASS 0/1 16 FRAME_SHIFT HIGH None None None None None None None

OTOF

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 2 . 26781366 1141.39 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None None None None None None None

PKDCC

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 2 . 42284763 29618.56 A G PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.82 None None None None None None None

PLB1

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 2 . 28829390 35832.03 T C PASS 1/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.44 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 28752241 768.31 G C PASS 0/1 35 SYNONYMOUS_CODING LOW None None None None None None None

PLCD4

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 2 . 219498177 4450.49 C G PASS 1/1 130 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 219492872 5925.19 C A PASS 0/1 93 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 219499195 779.36 G A PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

PMS1

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 2 . 190670585 9849.26 T C PASS 0/1 11 None None None None None None None None None None

PROM2

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 2 . 95941237 269.9 T C PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 95953965 36.25 C A PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21 0.32 6.20 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 rs115224562
dbSNP
95953986 1766.7 C T PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.10 1.00 0.73 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 95941250 266.82 C T PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 95953987 1147.77 A G PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 95954026 4420.05 G A PASS 0/1 182 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 95941255 236.56 G A PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None