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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

AARS2, ALDH5A1, ATXN1, C4A, CD2AP, CYP21A2, DCDC2, DSP, DST, ELOVL5, FANCE, FARS2, GCLC, GCM2, IGF2R, ITPR3, MAK, MOCS1, PHACTR1, PPP2R5D, TAP1, TFAP2A, TNXB, VARS,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (3)
CD2AP Glomerulosclerosis, focal segmental, 3, 607832 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
DCDC2 Nephronophthisis 19, 616217 (3)
Sclerosing cholangitis, neonatal, 617394 (3)
?Deafness, autosomal recessive 66, 610212 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
DST Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3)
?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FARS2 Combined oxidative phosphorylation deficiency 14, 614946 (3)
Spastic paraplegia 77, autosomal recessive, 617046 (3)
GCLC {Myocardial infarction, susceptibility to}, 608446 (3)
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3)
GCM2 Hyperparathyroidism 4, 617343 (3)
Hypoparathyroidism, familial isolated, 146200 (3)
IGF2R Hepatocellular carcinoma, somatic, 114550 (3)
ITPR3 {Diabetes, type 1, susceptibility to}, 222100 (2)
MAK Retinitis pigmentosa 62, 614181 (3)
MOCS1 Molybdenum cofactor deficiency A, 252150 (3)
PHACTR1 Epileptic encephalopathy, early infantile, 70, 618298 (3)
PPP2R5D Mental retardation, autosomal dominant 35, 616355 (3)
TAP1 Bare lymphocyte syndrome, type I, 604571 (3)
TFAP2A Branchiooculofacial syndrome, 113620 (3)
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
VARS Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3)

Genes at Clinical Genomics Database

AARS2, ALDH5A1, ATXN1, C4A, CD2AP, CYP21A2, DCDC2, DSP, DST, ELOVL5, FANCE, FARS2, GCLC, GCM2, MAK, MOCS1, PPP2R5D, TAP1, TFAP2A, TNXB,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
ATXN1 Spinocerebellar ataxia 1
C4A Blood group, Chido/Rodgers system
CD2AP Focal segmental glomerulosclerosis 3
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
DCDC2 Deafness, autosomal recessive 66
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DST Neuropathy, hereditary sensory and autonomic, type VI
ELOVL5 Spinocerebellar ataxia 39
FANCE Fanconi anemia, complementation group E
FARS2 Combined oxidative phosphorylation deficiency 14
GCLC Gamma-glutamylcysteine synthetase deficiency
GCM2 Hypoparathyroidism, familial isolated
MAK Retinitis pigmentosa 62
MOCS1 Molybdenum cofactor deficiency, type A
PPP2R5D Mental retardation, autosomal dominant 35
TAP1 Bare lymphocyte syndrome, type I
TFAP2A Branchiooculofacial sydrome
TNXB Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency

Genes at HGMD

Summary

Number of Variants: 143
Number of Genes: 103

Export to: CSV

AARS2

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 1352s 6 . 44272927 130.13 C T PASS 0/1 15 SYNONYMOUS_CODING LOW None None None None None None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%

ALDH5A1

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 1352s 6 . 24505126 334.13 G A PASS 0/1 24 SYNONYMOUS_CODING LOW SILENT None None None None None None ALDH5A1|0.036674729|66.91%

APOM

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 1352s 6 . 31624305 2497.13 C A PASS 0/1 150 SYNONYMOUS_CODING LOW SILENT None None None None None None APOM|0.162107126|41.28%

ARMC2

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 1352s 6 rs774806989
dbSNP Clinvar
109286285 1764.92 G A PASS 0/1 51 SYNONYMOUS_CODING LOW SILENT None None None None None None ARMC2|0.059551834|60.01%

ATXN1

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 1352s 6 . 16307064 390.92 C G PASS 0/1 9 SYNONYMOUS_CODING LOW SILENT None None None None None None ATXN1|0.832563526|5.05%
View 1352s 6 . 16327384 10929.9 A G PASS 1/1 107 SYNONYMOUS_CODING LOW None None None None None None ATXN1|0.832563526|5.05%

BLOC1S5

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 1352s 6 . 8015924 533.13 T G PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT None None None None None None TXNDC5|0.050039611|62.65%,BLOC1S5|0.096236628|51.89%

BTN1A1

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 1352s 6 . 26505175 3728.92 C A PASS 0/1 100 SYNONYMOUS_CODING LOW SILENT None None None None None None BTN1A1|0.010791735|80.28%
View 1352s 6 . 26501549 4332.92 C G PASS 0/1 89 SYNONYMOUS_CODING LOW None None None None None None BTN1A1|0.010791735|80.28%

C4A

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 1352s 6 . 31959565 1084.16 A G PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT None None None None None None C4A|0.012992445|78.51%

C6orf10

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 1352s 6 . 32339483 1028.92 T G PASS 0/1 37 NON_SYNONYMOUS_START LOW MISSENSE 0.07 0.99 None None None None None None C6orf10|0.001183307|94.56%

C6orf222

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 1352s 6 . 36291158 246.21 T G PASS 0/1 6 SYNONYMOUS_CODING LOW SILENT None None None None None None C6orf222|0.001542596|92.56%

C6orf47

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 1352s 6 . 31627710 3653.92 A G PASS 0/1 78 SYNONYMOUS_CODING LOW SILENT None None None None None None C6orf47|0.057785703|60.46%

CAGE1

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 1352s 6 . 7355285 1709.16 C T PASS 1/1 23 SYNONYMOUS_CODING LOW SILENT None None None None None None CAGE1|0.006487413|84.08%

CAPN11

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 1352s 6 . 44140061 988.14 T C PASS 0/1 15 SYNONYMOUS_CODING LOW None None None None None None CAPN11|0.010375422|80.57%

CD2AP

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 1352s 6 . 47522457 1320.13 A G PASS 0/1 19 SYNONYMOUS_CODING LOW None None None None None None CD2AP|0.343657419|24.58%

CDKAL1

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 1352s 6 . 20546657 1725.9 T G PASS 1/1 25 SYNONYMOUS_CODING LOW None None None None None None CDKAL1|0.850963692|4.62%
View 1352s 6 . 20846372 1406.9 C A PASS 1/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None CDKAL1|0.850963692|4.62%

CPNE5

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 1352s 6 . 36746714 546.17 G A PASS 1/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None CPNE5|0.175375504|39.59%

CSNK2B

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 1352s 6 . 31633245 1118.16 T C PASS 0/1 43 SYNONYMOUS_CODING LOW SILENT None None None None None None GPANK1|0.053434389|61.65%,CSNK2B|0.799053456|5.87%

CTGF

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 1352s 6 . 132271952 284.62 A G PASS 1/1 8 SYNONYMOUS_CODING LOW None None None None None None CTGF|0.966204314|1.83%

CYP21A2

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 1352s 6 . 32008795 1282.14 C G PASS 1/1 40 SYNONYMOUS_CODING LOW None None None None None None CYP21A2|0.039907204|65.79%

DCDC2

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 1352s 6 . 24178771 246.14 G A PASS 0/1 19 SYNONYMOUS_CODING LOW None None None None None None DCDC2|0.111169903|48.98%

DDX39B

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 1352s 6 . 31506911 3503.16 T G PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT None None None None None None DDX39B|0.561131797|13.31%

DHX16

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 1352s 6 . 30622600 104.19 T C PASS 0/1 8 SYNONYMOUS_CODING LOW SILENT None None None None None None DHX16|0.231716365|33.23%

DPCR1

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 1352s 6 . 30918044 275.93 G A PASS 0/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None DPCR1|0.000518122|98.34%
View 1352s 6 . 30917909 2732.16 T A PASS 1/1 38 SYNONYMOUS_CODING LOW None None None None None None DPCR1|0.000518122|98.34%
View 1352s 6 . 30917029 6662.16 A C PASS 1/1 117 SYNONYMOUS_CODING LOW None None None None None None DPCR1|0.000518122|98.34%
View 1352s 6 . 30916659 751.17 A G PASS 1/1 9 SYNONYMOUS_CODING LOW None None None None None None DPCR1|0.000518122|98.34%
View 1352s 6 . 30916496 349.26 A T PASS 1/1 6 SYNONYMOUS_CODING LOW SILENT None None None None None None DPCR1|0.000518122|98.34%

DSP

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 1352s 6 . 7571641 1698.16 G A PASS 0/1 77 SYNONYMOUS_CODING LOW None None None None None None DSP|0.573194355|12.87%
View 1352s 6 . 7570730 288.16 A G PASS 0/1 9 SYNONYMOUS_CODING LOW None None None None None None DSP|0.573194355|12.87%
View 1352s 6 . 7578110 696.26 G C PASS 1/1 11 SYNONYMOUS_CODING LOW SILENT None None None None None None DSP|0.573194355|12.87%

DST

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 1352s 6 . 56469796 1311.92 A T PASS 0/1 40 SYNONYMOUS_CODING LOW SILENT None None None None None None DST|0.807318345|5.62%

DUSP22

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 1352s 6 rs11242812
dbSNP Clinvar
348906 5354.92 G A PASS 0/1 135 SYNONYMOUS_CODING LOW SILENT None None None None None None DUSP22|0.182900115|38.68%

E2F3

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 1352s 6 . 20481447 2228.16 G C PASS 0/1 81 SYNONYMOUS_CODING LOW SILENT None None None None None None E2F3|0.876731315|4.05%
View 1352s 6 . 20481594 948.16 T C PASS 1/1 16 SYNONYMOUS_CODING LOW None None None None None None E2F3|0.876731315|4.05%

ELOVL5

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 1352s 6 . 53134036 5133.13 C T PASS 1/1 62 SYNONYMOUS_CODING LOW None None None None None None ELOVL5|0.228608658|33.49%

FAM8A1

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 1352s 6 . 17606182 1353.9 C T PASS 1/1 16 SYNONYMOUS_CODING LOW SILENT None None None None None None FAM8A1|0.060762759|59.66%

FANCE

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 1352s 6 . 35424010 8209.9 C T PASS 1/1 77 SYNONYMOUS_CODING LOW SILENT None None None None None None FANCE|0.052066515|62.05%

FARS2

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 1352s 6 . 5431338 1319.13 G A PASS 0/1 13 SYNONYMOUS_CODING LOW SILENT None None None None None None FARS2|0.138076128|44.7%

FKBPL

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 1352s 6 . 32096949 4036.16 T C PASS 0/1 167 SYNONYMOUS_CODING LOW SILENT None None None None None None FKBPL|0.055956498|60.92%

GCLC

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 1352s 6 . 53363566 509.16 G A PASS 0/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None GCLC|0.234993018|32.92%

GCM1

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 1352s 6 . 52995610 635.16 T C PASS 0/1 28 SYNONYMOUS_CODING LOW SILENT None None None None None None GCM1|0.03180715|68.7%
View 1352s 6 . 52995609 2004.13 T C PASS 1/1 28 SYNONYMOUS_CODING LOW None None None None None None GCM1|0.03180715|68.7%

GCM2

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 1352s 6 . 10875005 1866.92 T A PASS 0/1 53 SYNONYMOUS_CODING LOW SILENT None None None None None None SYCP2L|0.010875292|80.19%,GCM2|0.049608573|62.79%

GPLD1

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 1352s 6 . 24437410 1750.9 A T PASS 1/1 17 SYNONYMOUS_CODING LOW None None None None None None GPLD1|0.02193833|73.21%
View 1352s 6 . 24476466 1279.9 G A PASS 1/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None GPLD1|0.02193833|73.21%
View 1352s 6 . 24445955 2286.9 C T PASS 1/1 16 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None GPLD1|0.02193833|73.21%

GPR63

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 1352s 6 . 97246495 899.16 G A PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT None None None None None None GPR63|0.080645765|55.03%

HCG27

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 1352s 6 . 31170594 1988.13 G A PASS 0/1 131 SYNONYMOUS_STOP LOW None None None None None None HCG27|0.000672961|97.41%

HDGFL1

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 1352s 6 . 22569960 4276.16 T C PASS 0/1 149 SYNONYMOUS_CODING LOW SILENT None None None None None None HDGFL1|0.001317103|93.77%

HIST1H2AA

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 1352s 6 . 25726393 1370.13 C T PASS 0/1 125 SYNONYMOUS_CODING LOW SILENT None None None None None None HIST1H2AA|0.002073176|90.78%

HIST1H4C

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 1352s 6 . 26104404 2123.16 T G PASS 1/1 37 SYNONYMOUS_CODING LOW None None None None None None HIST1H4C|0.821971456|5.26%
View 1352s 6 . 26104442 939.9 A C PASS 1/1 25 SYNONYMOUS_CODING LOW SILENT None None None None None None HIST1H4C|0.821971456|5.26%
View 1352s 6 . 26104220 5482.9 A G PASS 1/1 120 SYNONYMOUS_CODING LOW SILENT None None None None None None HIST1H4C|0.821971456|5.26%

HLA-DOA

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 1352s 6 . 32975309 544.16 T A PASS 0/1 30 SYNONYMOUS_CODING LOW None None None None None None HLA-DOA|0.020809956|73.77%

HSF2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 122744043 1588.9 T C PASS 1/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None HSF2|0.322700617|25.98%

HSP90AB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 44217517 4745.92 T C PASS 0/1 108 SYNONYMOUS_CODING LOW None None None None None None HSP90AB1|0.395652538|21.03%

IER3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 30711851 16639.9 T A PASS 1/1 136 SYNONYMOUS_CODING LOW SILENT None None None None None None IER3|0.020668775|73.85%

IGF2R

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 160453705 381.13 G A PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT None None None None None None IGF2R|0.085869255|53.96%

IP6K3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 33690757 139.13 G A PASS 0/1 12 SYNONYMOUS_CODING LOW None None None None None None IP6K3|0.054862403|61.23%

ITPR3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 rs911504113
dbSNP Clinvar
33662847 449.13 C T PASS 0/1 46 SYNONYMOUS_CODING LOW SILENT None None None None None None ITPR3|0.727036054|7.77%,UQCC2|0.492991251|16.19%

JARID2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 15487551 1538.16 C G PASS 0/1 52 SYNONYMOUS_CODING LOW SILENT None None None None None None JARID2|0.58982626|12.14%
View 1352s 6 . 15513251 7938.9 G A PASS 1/1 88 SYNONYMOUS_CODING LOW None None None None None None JARID2|0.58982626|12.14%
View 1352s 6 . 15497191 1681.16 A G PASS 0/1 57 SYNONYMOUS_CODING LOW None None None None None None JARID2|0.58982626|12.14%

KDM1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 18205820 841.14 T C PASS 0/1 7 SYNONYMOUS_CODING LOW None None None None None None KDM1B|0.213036406|35.23%

KIAA0319

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 24596250 12532.9 T G PASS 1/1 143 SYNONYMOUS_CODING LOW None None None None None None KIAA0319|0.021637876|73.37%

KIF13A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 17781507 440.16 T C PASS 0/1 11 SYNONYMOUS_CODING LOW None None None None None None KIF13A|0.154932935|42.3%

LATS1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 150001075 2406.92 C T PASS 0/1 65 SYNONYMOUS_CODING LOW None None None None None None LATS1|0.653836709|9.95%
View 1352s 6 . 150005131 4041.92 A G PASS 0/1 106 SYNONYMOUS_CODING LOW None None None None None None LATS1|0.653836709|9.95%

LRRC16A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 25605085 589.92 A T PASS 0/1 12 SYNONYMOUS_CODING LOW None None None None None None LRRC16A|0.106228514|49.94%
View 1352s 6 . 25606450 342.92 C T PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None LRRC16A|0.106228514|49.94%

MAK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 10791964 2155.13 T C PASS 0/1 22 SYNONYMOUS_CODING LOW SILENT None None None None None None TMEM14B|0.019337947|74.5%,SYCP2L|0.010875292|80.19%,MAK|0.065975879|58.37%

MAP3K5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 137017139 5465.9 A G PASS 1/1 53 SYNONYMOUS_CODING LOW SILENT None None None None None None MAP3K5|0.68531338|8.95%

MOCS1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 39883903 2719.16 A G PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT None None None None None None MOCS1|0.123918217|46.83%

MRS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 24403331 2136.16 C T PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT None None None None None None MRS2|0.24396514|32.1%

MYLK4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 2749427 1645.16 A G PASS 0/1 68 SYNONYMOUS_CODING LOW SILENT None None None None None None MYLK4|0.069271127|57.67%

NEDD9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 11190393 10799.13 A G PASS 0/1 126 SYNONYMOUS_CODING LOW None None None None None None NEDD9|0.274702468|29.54%
View 1352s 6 . 11185734 4485.13 T C PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT None None None None None None NEDD9|0.274702468|29.54%

NFKBIE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 44233216 340.16 A G PASS 0/1 11 SYNONYMOUS_CODING LOW None None None None None None NFKBIE|0.048539434|63.09%

NOL7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 13618366 291.26 G T PASS 0/1 9 SPLICE_SITE_REGION LOW None None None None None None NOL7|0.137891067|44.72%

NOTCH4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 32166879 6299.92 T C PASS 0/1 156 SYNONYMOUS_CODING LOW SILENT None None None None None None NOTCH4|0.816387806|5.41%
View 1352s 6 . 32180254 3768.16 A G PASS 0/1 122 SYNONYMOUS_CODING LOW None None None None None None NOTCH4|0.816387806|5.41%

NUP153

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 17665574 1034.13 C T PASS 1/1 12 SYNONYMOUS_CODING LOW None None None None None None NUP153|0.346309412|24.4%
View 1352s 6 . 17629385 12335.9 G A PASS 1/1 122 SYNONYMOUS_CODING LOW SILENT None None None None None None NUP153|0.346309412|24.4%

NUP43

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 150064841 1304.92 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None None None None None None NUP43|0.61394766|11.33%

PBX2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 32156174 1141.9 T C PASS 1/1 10 SYNONYMOUS_CODING LOW None None None None None None PBX2|0.372933502|22.53%
View 1352s 6 . 32156196 346.96 C G PASS 0/1 5 SYNONYMOUS_CODING LOW SILENT None None None None None None PBX2|0.372933502|22.53%

PHACTR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 13278556 563.18 T C PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None PHACTR1|0.446358533|18.33%,TBC1D7|0.263256496|30.46%

POU5F1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 31138114 20483.9 A G PASS 1/1 187 SYNONYMOUS_CODING LOW None None None None None None POU5F1|0.885010143|3.84%

PPP1R3G

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 5085836 14221.9 A G PASS 1/1 132 SYNONYMOUS_CODING LOW SILENT None None None None None None PPP1R3G|0.003846588|87.25%
View 1352s 6 . 5086324 14115.9 C A PASS 1/1 145 SYNONYMOUS_CODING LOW None None None None None None PPP1R3G|0.003846588|87.25%

PPP2R5D

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 42975041 3806.9 A G PASS 1/1 69 SYNONYMOUS_CODING LOW SILENT None None None None None None PPP2R5D|0.417285911|19.74%
View 1352s 6 . 42978916 3901.16 C G PASS 0/1 134 SYNONYMOUS_CODING LOW None None None None None None PPP2R5D|0.417285911|19.74%

PRDM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 106553706 2447.9 T C PASS 1/1 30 SYNONYMOUS_CODING LOW None None None None None None PRDM1|0.584785722|12.37%
View 1352s 6 . 106553581 7438.9 A T PASS 1/1 73 SYNONYMOUS_CODING LOW None None None None None None PRDM1|0.584785722|12.37%
View 1352s 6 . 106553272 1200.91 C T PASS 1/1 18 SYNONYMOUS_CODING LOW None None None None None None PRDM1|0.584785722|12.37%

PRL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 22294758 1765.92 A T PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT None None None None None None PRL|0.950039902|2.27%

PRPF4B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1352s 6 . 4032831 3103.16 A G PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT None None None None None None PRPF4B|0.903242153|3.38%