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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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Genes at Omim

ANLN, ARID1B, ASCL1, ASPN, ATXN1, BPTF, CACNA1A, CPS1, DDHD1, EIF2AK3, FOXE1, GREB1L, KIF1A, KRT4, LHCGR, LOR, MCC, NIPA1, PDE11A, PRDM6, RTTN, SYNJ1, TMIE, TSPYL1,
ANLN Focal segmental glomerulosclerosis 8, 616032 (3)
ARID1B Coffin-Siris syndrome 1, 135900 (3)
ASCL1 Central hypoventilation syndrome, congenital, 209880 (3)
Haddad syndrome, 209880 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
BPTF Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CPS1 Carbamoylphosphate synthetase I deficiency, 237300 (3)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
{Venoocclusive disease after bone marrow transplantation} (3)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
FOXE1 Bamforth-Lazarus syndrome, 241850 (3)
{Thyroid cancer, nonmedullary, 4}, 616534 (3)
GREB1L Renal hypodysplasia/aplasia 3, 617805 (3)
KIF1A Mental retardation, autosomal dominant 9, 614255 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Spastic paraplegia 30, autosomal recessive, 610357 (3)
KRT4 White sponge nevus 1, 193900 (3)
LHCGR Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)
Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3)
Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3)
Luteinizing hormone resistance, female, 238320 (3)
Precocious puberty, male, 176410 (3)
LOR Vohwinkel syndrome with ichthyosis, 604117 (3)
MCC Colorectal cancer, somatic, 114500 (3)
NIPA1 Spastic paraplegia 6, autosomal dominant, 600363 (3)
PDE11A Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PRDM6 Patent ductus arteriosus 3, 617039 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SYNJ1 Epileptic encephalopathy, early infantile, 53, 617389 (3)
Parkinson disease 20, early-onset, 615530 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)

Genes at Clinical Genomics Database

ANLN, ARID1B, ASCL1, ATXN1, CACNA1A, CPS1, EIF2AK3, FOXE1, KIF1A, KRT4, LHCGR, LOR, NIPA1, PDE11A, RTTN, TMIE, TSPYL1,
ANLN Focal segmental glomerulosclerosis 8
ARID1B Mental retardation, autosomal dominant, 12
Coffin-Siris syndrome 1
ASCL1 Central hypoventilation syndrome, congenital (Haddad syndrome)
ATXN1 Spinocerebellar ataxia 1
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CPS1 Carbamoylphosphate synthetase I deficiency
EIF2AK3 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Wolcott-Rallison syndrome
FOXE1 Thyroid cancer, nonmedullary 4
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Congenital hypothyroidism
KIF1A Mental retardation, autosomal dominant 9
Neuropathy, hereditary sensory, type IIC
Spastic paraplegia 30, autosomal recessive
KRT4 White sponge nevus 1
LHCGR Leydig cell hypoplasia type I
Leydig cell hypoplasia type II
Luteinizing hormone resistance, female
Precocious puberty, male
LOR Vohwinkel syndrome, variant form
NIPA1 Spastic paraplegia 6
PDE11A Pigmented nodular adrenocortical disease, primary, 2
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
TMIE Deafness, autosomal recessive 6
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome
46, XY disorder of sex development

Genes at HGMD

Summary

Number of Variants: 100
Number of Genes: 92

Export to: CSV
  • Page 1 of 1

AC110771.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 4 rs146592367,rs67422809
dbSNP Clinvar
187112347 885.98 C CGTT PASS 1/1 124 CODON_INSERTION MODERATE None None None None None None None None

ADAMTS8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 11 rs10548872
dbSNP Clinvar
130298117 1186.28 GGCA GG... PASS 2/1 69 CODON_INSERTION MODERATE None 0.07728 0.47700 0.51250 None None None None None None ADAMTS8|0.042125202|65.07%

AFAP1L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 10 rs74928179
dbSNP Clinvar
116085784 1365.3 C CCCG PASS 1/1 109 CODON_INSERTION MODERATE None None None None None None None AFAP1L2|0.092781823|52.66%

ANLN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 7 rs61549495
dbSNP Clinvar
36447349 1558.75 A ACTT PASS 1/1 88 CODON_INSERTION MODERATE None 0.44948 0.44950 0.38393 None None None None None None ANLN|0.180116375|39.04%

ARID1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 6 rs572236007,rs587779738,rs587779739
dbSNP Clinvar
157100396 486.54 G GCGC PASS 0/1 22 CODON_INSERTION MODERATE None 0.02516 0.02516 0.03586 None None None None None None ARID1B|0.540737445|14.17%

ART5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 11 rs3062849
dbSNP Clinvar
3661585 5482.67 A ATGG PASS 1/1 190 CODON_INSERTION MODERATE None 0.96745 0.96750 0.03526 None None None None None None ART5|0.101580058|50.85%

ASCL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 12 rs794726916
dbSNP Clinvar
103352171 3275.08 CG... CG... PASS 0/1 49 CODON_INSERTION MODERATE None None None None None None None PAH|0.397123463|20.97%,ASCL1|0.898371145|3.46%

ASPN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 9 rs878983183
dbSNP Clinvar
95237024 3443.09 CT... CT... PASS 0/4 93 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

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 combined sample_59.variant21 6 rs754954093
dbSNP Clinvar
16327864 1033.1 GT... GT... PASS 0/2 105 CODON_INSERTION MODERATE None None None None None None None ATXN1|0.832563526|5.05%

BAIAP2L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 22 rs142739979
dbSNP Clinvar
38483155 2620.46 T TT... PASS 1/1 146 CODON_INSERTION MODERATE None 0.30052 0.30050 0.33270 None None None None None None BAIAP2L2|0.045525826|64.05%

BARHL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 1 . 91182391 2592.4 G GG... PASS 0/1 137 CODON_INSERTION MODERATE None None None None None None None BARHL2|0.609319607|11.48%

BPTF

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 17 rs139709271
dbSNP Clinvar
65955758 683.68 T TC... PASS 0/2 25 CODON_INSERTION MODERATE None None None None None None None BPTF|0.199279409|36.79%

C16orf3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 16 rs71137702
dbSNP Clinvar
90095597 1623.67 T TG... PASS 0/1 122 CODON_INSERTION MODERATE None None None None None None None GAS8|0.279441552|29.14%,GAS8-AS1|0.000409624|98.88%

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 combined sample_59.variant21 2 rs139768554
dbSNP Clinvar
29287926 837.84 C CGCT PASS 1/1 121 CODON_INSERTION MODERATE None 0.37360 0.37360 0.31822 None None None None None None C2orf71|0.006399925|84.18%

C8orf59

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 8 rs112611553
dbSNP Clinvar
86126827 3436.37 C CA... PASS 1/1 88 CODON_INSERTION MODERATE None 0.99720 0.99720 0.00399 None None None None None None E2F5|0.388960651|21.48%,C8orf59|0.106330723|49.9%

CACNA1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 19 rs765169827
dbSNP Clinvar
13318672 1195.33 CC... CC... PASS 0/3 26 CODON_INSERTION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%

CCDC66

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 3 rs77152637
dbSNP Clinvar
56650051 1683.46 A ACTT PASS 0/1 99 CODON_INSERTION MODERATE None 0.41017 None None None None None None CCDC66|0.050930369|62.39%

CDC27

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 17 . 45232085 52.42 T TCTC PASS 0/1 48 CODON_INSERTION MODERATE None None None None None None None CDC27|0.658499283|9.78%

CDK11A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 1 rs144636354,rs199866927
dbSNP Clinvar
1647893 6300.47 C CT... PASS 0/1 292 CODON_INSERTION MODERATE None None None None None None None CDK11A|0.02662445|71.07%

CENPV

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 17 rs539910742
dbSNP Clinvar
16256686 235.32 G GC... PASS 0/1 17 CODON_INSERTION MODERATE None 0.53375 0.53370 0.27741 None None None None None None CENPV|0.053229738|61.73%

CNDP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 18 rs10663835,rs60017744
dbSNP Clinvar
72223591 1528.36 G GT... PASS 1/2 86 CODON_INSERTION MODERATE None None None None None None None CNDP1|0.024865105|71.86%

CPEB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 4 rs534266090
dbSNP Clinvar
15005738 2961.47 A AGCG PASS 0/1 155 CODON_INSERTION MODERATE None 0.04932 0.04932 None None None None None None CPEB2|0.386116633|21.67%

CPS1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 2 rs61509952
dbSNP Clinvar
211421452 2426.92 A ATCT PASS 1/1 120 CODON_INSERTION MODERATE None 0.47704 0.47700 0.46149 None None None None None None CPS1|0.827402852|5.16%

DDHD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 14 rs140904345,rs55671452
dbSNP Clinvar
53619480 4854.0 T TG... PASS 1/1 89 CODON_INSERTION MODERATE None 0.78534 0.78530 None None None None None None DDHD1|0.165614738|40.86%

DENND4B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 1 rs3835302
dbSNP Clinvar
153907278 4841.32 CC... C,... PASS 0/1 200 CODON_INSERTION MODERATE None None None None None None None DENND4B|0.160276064|41.5%

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 combined sample_59.variant21 2 rs72416210
dbSNP Clinvar
88926729 175.73 CCAG C,... PASS 0/1 49 CODON_INSERTION MODERATE None 0.79653 0.79650 None None None None None None EIF2AK3|0.850003581|4.63%

FAM120B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 6 . 170627695 2906.1 A AC... PASS 0/1 220 CODON_INSERTION MODERATE None None None None None None None FAM120B|0.011045549|80.03%

FAM187A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 17 rs35098586
dbSNP Clinvar
42981239 1425.25 G GAGT PASS 0/1 110 CODON_INSERTION MODERATE None 0.25599 0.25600 None None None None None None CCDC103|0.035653539|67.25%,FAM187A|0.067468693|58.02%

FAM46A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 6 rs771239762
dbSNP Clinvar
82461727 782.37 AC... A,... PASS 2/2 28 CODON_INSERTION MODERATE None None None None None None None FAM46A|0.523803147|14.83%

FAM83G

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 17 rs538676818
dbSNP Clinvar
18874685 1453.17 C CGGT PASS 1/1 111 CODON_INSERTION MODERATE None 0.65176 0.65180 0.40464 None None None None None None SLC5A10|0.040169483|65.72%,FAM83G|0.025838834|71.41%

FOXD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 1 rs3046924,rs71053113
dbSNP Clinvar
47904668 2466.02 T TC... PASS 1/1 73 CODON_INSERTION MODERATE None 0.96446 0.96450 0.09483 None None None None None None FOXD2|0.222136789|34.18%

FOXE1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 9 rs755911172
dbSNP Clinvar
100616700 440.75 AG... AG... PASS 0/1 46 CODON_INSERTION MODERATE None None None None None None None FOXE1|0.190679781|37.73%

GOLGA6L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 15 rs149459090
dbSNP Clinvar
23686010 785.46 T TCTC PASS 0/1 164 CODON_INSERTION MODERATE None None None None None None None GOLGA6L2|0.000844228|96.42%
View combined sample_59.variant21 15 rs765966759
dbSNP Clinvar
23686045 364.11 A AT... PASS 0/1 162 CODON_INSERTION MODERATE None None None None None None None GOLGA6L2|0.000844228|96.42%
View combined sample_59.variant21 15 rs34879341
dbSNP Clinvar
23685004 816.11 G GCAT PASS 1/1 71 CODON_INSERTION MODERATE None None None None None None None GOLGA6L2|0.000844228|96.42%
View combined sample_59.variant21 15 rs748500078
dbSNP Clinvar
23685922 1142.86 C CC... PASS 0/1 127 CODON_INSERTION MODERATE None None None None None None None GOLGA6L2|0.000844228|96.42%

GOLGA8R

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 15 rs372647671
dbSNP Clinvar
30700168 423.68 C CTTG PASS 0/1 266 CODON_INSERTION MODERATE None None None None None None None GOLGA8R|0.001465898|92.97%

GPRIN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 10 rs112620425
dbSNP Clinvar
46999591 1634.41 C CA... PASS 0/1 295 CODON_INSERTION MODERATE None 0.47903 0.47900 0.49369 None None None None None None GPRIN2|0.008107767|82.54%

GREB1L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 18 rs34960489,rs10654340
dbSNP Clinvar
19100758 3957.64 A ATCT PASS 1/1 74 CODON_INSERTION MODERATE None 0.99541 0.99540 0.00367 None None None None None None GREB1L|0.672050705|9.33%

GRIN2C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 17 rs139495021,rs56348130
dbSNP Clinvar
72839130 1847.01 A AG... PASS 0/1 61 CODON_INSERTION MODERATE None 0.00060 0.79630 0.16903 None None None None None None GRIN2C|0.081131764|54.96%

GSPT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 16 rs749531224
dbSNP Clinvar
12009530 1983.6 CC... CC... PASS 0/1 129 CODON_INSERTION MODERATE None 0.24168 None None None None None None GSPT1|0.477722435|16.86%

HEG1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 3 rs557156973
dbSNP Clinvar
124774665 540.47 G GCAT PASS 0/1 64 CODON_INSERTION MODERATE None 0.08906 0.08906 0.16810 None None None None None None HEG1|0.04030264|65.66%

HOXD8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 2 rs544054860
dbSNP Clinvar
176995302 958.17 G GC... PASS 0/1 68 CODON_INSERTION MODERATE None 0.02776 0.02776 0.03864 None None None None None None HOXD8|0.521258999|14.96%

HSPBP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 19 rs3040014
dbSNP Clinvar
55790886 4749.11 A AG... PASS 0/1 114 CODON_INSERTION MODERATE None None None None None None None HSPBP1|0.08555301|54.04%

KCNN3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 1 . 154842199 2072.81 GG... GG... PASS 0/5 69 CODON_INSERTION MODERATE None None None None None None None KCNN3|0.329640894|25.51%

KIAA2018

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 3 rs749467269
dbSNP Clinvar
113376110 2390.91 TT... TT... PASS 2/2 136 CODON_INSERTION MODERATE None None None None None None None KIAA2018|0.1345024|45.17%

KIF1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 2 rs778420481
dbSNP Clinvar
241696840 1205.32 AT... AT... PASS 1/1 178 CODON_INSERTION MODERATE None None None None None None None KIF1A|0.102859335|50.62%

KRT4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 12 rs11267392
dbSNP Clinvar
53207583 3194.68 C CC... PASS 0/1 114 CODON_INSERTION MODERATE None 0.00080 0.87900 None None None None None None KRT4|0.094749162|52.19%

KRTAP4-3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 17 rs770530211
dbSNP Clinvar
39324346 178.66 G GTTT DRAGENHardINDEL 0/1 401 CODON_INSERTION MODERATE None None None None None None None KRTAP4-3|0.001216731|94.35%

KRTAP4-5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 17 rs535144703,rs878860917,rs58117746
dbSNP Clinvar
39305775 2935.58 T TG... PASS 0/1 325 CODON_INSERTION MODERATE None 0.42312 0.42310 None None None None None None KRTAP4-5|0.004149252|86.8%

KRTAP5-5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 11 rs748171191,rs71025763
dbSNP Clinvar
1651199 178.71 A AG... PASS 0/2 61 CODON_INSERTION MODERATE None None None None None None None KRTAP5-5|0.016124954|76.4%

KRTAP9-1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 17 . 39346595 2090.86 T TG... PASS 1/1 135 CODON_INSERTION MODERATE None 0.90715 None None None None None None KRTAP9-1|0.001839367|91.43%

LHCGR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 2 rs376653903
dbSNP Clinvar
48982755 1975.13 G GG... PASS 0/1 89 CODON_INSERTION MODERATE None 0.14457 0.14460 0.19675 None None None None None None STON1-GTF2A1L|0.070736992|57.3%,LHCGR|0.657366853|9.81%

LOR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 1 rs561634896,rs11272549
dbSNP Clinvar
153233991 862.95 A AC... PASS 0/1 87 CODON_INSERTION MODERATE None 0.64836 0.64840 0.40271 None None None None None None LOR|0.059509519|60.04%

MAGI1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 3 rs142043619,rs773463513
dbSNP Clinvar
65425560 887.64 T TCTG PASS 1/1 65 CODON_INSERTION MODERATE None 0.00340 None None None None None None MAGI1|0.767705528|6.67%

MCC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 5 rs531679771,rs35336557
dbSNP Clinvar
112824048 2248.11 T TGCC PASS 1/1 178 CODON_INSERTION MODERATE None 0.33207 0.33210 None None None None None None MCC|0.469013944|17.21%

MED15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 22 rs780625319,rs878910304,rs539945336,rs361923
dbSNP Clinvar
20920813 1380.31 A AC... PASS 1/2 59 CODON_INSERTION MODERATE None 0.14460 None None None None None None MED15|0.346152585|24.41%

MUC12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 7 rs150485202
dbSNP Clinvar
100612955 613.19 A ACTG PASS 0/1 113 CODON_INSERTION MODERATE None 0.22312 None None None None None None MUC12|0.000890812|96.07%

MUC13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 3 rs10630030,rs397759224
dbSNP Clinvar
124646705 7170.94 A AAAG PASS 1/1 111 CODON_INSERTION MODERATE None 0.98602 0.98600 0.01334 None None None None None None MUC13|0.000146036|99.87%

MUC22

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 6 rs28994679
dbSNP Clinvar
30997500 2106.76 A AA... PASS 0/1 234 CODON_INSERTION MODERATE None None None None None None None MUC22|0.000197145|99.78%

MUC3A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 7 rs112753297,rs374444410
dbSNP Clinvar
100551637 6512.0 C CCAA PASS 0/1 486 CODON_INSERTION MODERATE None 0.39046 None None None None None None MUC3A|0.001683398|91.94%

MUC4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 3 rs771345062
dbSNP Clinvar
195508108 294.53 G GA... PASS 0/1 917 CODON_INSERTION MODERATE None None None None None None None MUC4|0.005441696|85.29%
View combined sample_59.variant21 3 . 195513413 3258.69 G GG... PASS 0/1 458 CODON_INSERTION MODERATE None None None None None None None MUC4|0.005441696|85.29%
View combined sample_59.variant21 3 . 195507262 2124.46 T TG... PASS 0/1 306 CODON_INSERTION MODERATE None None None None None None None MUC4|0.005441696|85.29%
View combined sample_59.variant21 3 . 195507242 3026.37 C CT... PASS 0/1 51 CODON_INSERTION MODERATE None None None None None None None MUC4|0.005441696|85.29%
View combined sample_59.variant21 3 . 195513398 11904.8 C CG... PASS 0/3 300 CODON_INSERTION MODERATE None None None None None None None MUC4|0.005441696|85.29%

NADK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 1 rs150880809,rs71578334,rs765479702
dbSNP Clinvar
1684347 3716.21 C CCCT PASS 0/1 228 CODON_INSERTION MODERATE None None None None None None None NADK|0.029857865|69.48%

NCOR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 12 rs143952466
dbSNP Clinvar
124824721 9151.22 C CG... PASS 1/1 216 CODON_INSERTION MODERATE None 0.95088 0.95090 None None None None None None NCOR2|0.460506037|17.66%
View combined sample_59.variant21 12 rs35831183,rs879061669
dbSNP Clinvar
124887058 520.97 G GG... PASS 1/1 46 CODON_INSERTION MODERATE None 0.09205 0.30650 None None None None None None NCOR2|0.460506037|17.66%

NIPA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 15 rs531550505
dbSNP Clinvar
23086364 3665.84 GGCC G,... PASS 0/1 146 CODON_INSERTION MODERATE None 0.06190 0.06190 None None None None None None NIPA1|0.380603066|22%

NOTCH4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 6 rs150280230
dbSNP Clinvar
32191658 401.66 TA... TA... PASS 0/1 91 CODON_INSERTION MODERATE None None None None None None None NOTCH4|0.816387806|5.41%

NOX4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 11 rs34495256,rs398115612
dbSNP Clinvar
89224131 2284.39 T TCTC PASS 0/1 58 CODON_INSERTION MODERATE None 0.42073 0.42070 None None None None None None NOX4|0.381098798|21.97%

OFCC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 6 rs59046538,rs397956158
dbSNP Clinvar
9900599 2377.73 T TGAG PASS 0/1 100 CODON_INSERTION MODERATE None 0.25539 0.25540 0.23255 None None None None None None OFCC1|0.246098637|31.92%

OTUD7A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 15 rs199744400
dbSNP Clinvar
31776210 6640.03 TGGC T,... PASS 0/1 129 CODON_INSERTION MODERATE None 0.77137 0.77140 0.32143 None None None None None None OTUD7A|0.076054445|56.07%

PDE11A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 2 rs3830637,rs397723704
dbSNP Clinvar
178494173 2557.68 G GGGA PASS 0/1 79 CODON_INSERTION MODERATE None 0.58766 0.58770 0.40711 None None None None None None PDE11A|0.740114937|7.36%

PODXL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 7 rs11277659,rs532078953
dbSNP Clinvar
131241029 3379.89 GG... GG... PASS 0/1 232 CODON_INSERTION MODERATE None 0.31330 None None None None None None PODXL|0.000589481|97.98%

PRDM2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 1 rs2308040,rs59028030
dbSNP Clinvar
14106394 1862.76 A ACTC PASS 0/1 104 CODON_INSERTION MODERATE None 0.46980 None None None None None None PRDM2|0.168607975|40.49%

PRDM6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 5 rs199942027,rs70988558
dbSNP Clinvar
122425971 31.49 A AC... PASS 0/1 57 CODON_INSERTION MODERATE None 0.22284 0.22280 0.27323 None None None None None None PRDM6|0.551616057|13.65%

RALY

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 20 rs10649600
dbSNP Clinvar
32664864 1543.89 C CCAG PASS 0/1 101 CODON_INSERTION MODERATE None None None None None None None RALY|0.302394222|27.46%

RBM23

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 14 rs61680322,rs397812315
dbSNP Clinvar
23371255 2708.61 G GGGC PASS 1/1 157 CODON_INSERTION MODERATE None 0.52240 None None None None None None RBM23|0.17375413|39.82%

RBMXL3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 X rs782097222,rs55659078
dbSNP Clinvar
114425181 3099.16 A AG... PASS 1/1 172 CODON_INSERTION MODERATE None 0.00053 0.91890 0.09940 None None None None None None LRCH2|0.349596138|24.16%,RBMXL3|0.001057182|95.12%

RPL14

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 3 . 40503520 1210.71 ACTG AC... PASS 1/1 103 CODON_INSERTION MODERATE None None None None None None None RPL14|0.064797243|58.69%

RTTN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 18 rs74941514
dbSNP Clinvar
67863850 3796.02 T TCTC PASS 1/1 73 CODON_INSERTION MODERATE None 0.95268 0.95270 0.04596 None None None None None None RTTN|0.045017499|64.2%

SAMD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 19 . 14201181 410.94 T TGGA PASS 0/1 26 CODON_INSERTION MODERATE None None None None None None None SAMD1|0.030324021|69.27%

SAMD4A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 14 rs142168866,rs75516264
dbSNP Clinvar
55169050 2503.12 C CCAG PASS 0/1 148 CODON_INSERTION MODERATE None 0.04073 0.04073 0.06447 None None None None None None SAMD4A|0.668629366|9.41%

SCAF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 19 rs565149093
dbSNP Clinvar
50155361 762.72 GC... GC... PASS 0/1 15 CODON_INSERTION MODERATE None 0.00120 0.00120 None None None None None None SCAF1|0.031761925|68.71%

SERINC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 1 rs3050461,rs5773362
dbSNP Clinvar
31905889 6543.73 A ACAG PASS 0/1 176 CODON_INSERTION MODERATE None 0.73902 0.73900 None None None None None None SERINC2|0.042418006|64.98%

SGK223

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 8 rs150979349,rs59372311
dbSNP Clinvar
8234868 3843.69 C CG... PASS 1/1 262 CODON_INSERTION MODERATE None 0.59505 0.59500 None None None None None None None

SKIDA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 10 rs112207161,rs754441279
dbSNP Clinvar
21805466 1900.68 C CC... PASS 1/1 75 CODON_INSERTION MODERATE None 0.54074 0.54070 0.37238 None None None None None None SKIDA1|0.439515262|18.69%

SOX1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 13 rs137969745
dbSNP Clinvar
112723111 1742.43 C CG... PASS 0/1 69 CODON_INSERTION MODERATE None 0.10683 0.10680 0.07293 None None None None None None SOX1|0.483654388|16.56%

SYNJ1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 21 rs71640263
dbSNP Clinvar
34003928 5632.95 A AA... PASS 0/1 131 CODON_INSERTION MODERATE None 0.57109 0.57110 0.43913 None None None None None None SYNJ1|0.15926278|41.69%

TMEM52

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 1 rs575852588
dbSNP Clinvar
1850627 356.51 CA... C,... PASS 0/1 34 CODON_INSERTION MODERATE None 0.35903 0.35900 0.28098 None None None None None None TMEM52|0.00312833|88.44%

TMIE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 3 rs10578999,rs397817178
dbSNP Clinvar
46751073 1086.91 TAAG T,... PASS 1/1 151 CODON_INSERTION MODERATE None 0.75320 None None None None None None TMIE|0.142194222|44.12%

TRBV5-4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 7 rs750253795
dbSNP Clinvar
142168502 2001.1 T TTTC PASS 0/1 308 CODON_INSERTION MODERATE None None None None None None None None

TRBV6-7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 7 rs746590828
dbSNP Clinvar
142143703 429.7 T TC... PASS 0/1 259 CODON_INSERTION MODERATE None None None None None None None None

TSPYL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 6 rs78371471,rs397735194
dbSNP Clinvar
116600465 538.12 T TCAC PASS 0/1 107 CODON_INSERTION MODERATE None 0.87220 0.87220 0.27113 None None None None None None DSE|0.823278071|5.23%,TSPYL1|0.00455159|86.36%

ZIC5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 13 . 100622837 309.33 C CC... PASS 0/1 6 CODON_INSERTION MODERATE None 0.00220 0.01931 None None None None None None ZIC5|0.189825813|37.83%

ZNF714

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 19 rs36125838,rs57999210
dbSNP Clinvar
21299774 3656.77 T TATA PASS 1/1 72 CODON_INSERTION MODERATE None 0.84145 0.84150 0.14029 None None None None None None ZNF714|0.001187991|94.48%

ZNF814

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_59.variant21 19 rs10687775
dbSNP Clinvar
58385869 3365.05 C CATA PASS 1/1 82 CODON_INSERTION MODERATE None 0.50739 0.50740 None None None None None None ZNF814|0.001599534|92.34%

ZNF816

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 combined sample_59.variant21 19 rs33949217
dbSNP Clinvar
53454475 1593.4 C CACT PASS 0/1 75 CODON_INSERTION MODERATE None 0.46506 0.46510 0.45550 None None None None None None ZNF816|0.000923354|95.92%,ZNF321P|0.001360128|93.55%
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