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Genes at Omim

ABCA7, ABCC8, AFG3L2, ALOXE3, ALPL, AMACR, AMH, AMPD3, AQP3, AQP7, ASPM, ATM, ATXN1, C3, C4A, C4B, CACNA1E, CCT5, CLCN7, COL4A3BP, CYP21A2, DDX58, DNAH11, DNAH5, DNAI1, DSP, ECE1, EED, ELMO2, EXOSC3, FANCE, FGFR3, FOXC1, FREM1, FUT3, FUT6, FYCO1, GCNT2, GHR, GPX4, GRHPR, GUCY2C, HMCN1, HTT, IL7R, INSR, KLC2, KMT2A, KRT9, LAMA1, LARS2, LIFR, LMNB2, MAFA, MTRR, NDUFA11, NDUFS7, NDUFV2, NEU1, NHLRC1, NUP155, PIEZO2, PKD1L1, PPP2R5D, PRX, SDHA, SH3BP2, SH3GL1, SHPK, SKIV2L, SLC17A3, SLC6A5, SPTA1, SRCAP, TBXA2R, TEK, TICAM1, TNXB, TOPORS, TRIO, TRIT1, TRPM7, TUBB2B, VCP,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ABCC8 Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
AFG3L2 Spastic ataxia 5, autosomal recessive, 614487 (3)
Spinocerebellar ataxia 28, 610246 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ALPL Hypophosphatasia, adult, 146300 (3)
Hypophosphatasia, childhood, 241510 (3)
Hypophosphatasia, infantile, 241500 (3)
Odontohypophosphatasia, 146300 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 (3)
AQP3 [Blood group GIL], 607457 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
C3 deficiency, 613779 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (3)
C4B C4B deficiency, 614379 (3)
CACNA1E Epileptic encephalopathy, early infantile, 69, 618285 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)
COL4A3BP Mental retardation, autosomal dominant 34, 616351 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
DDX58 Singleton-Merten syndrome 2, 616298 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (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)
ECE1 {Hypertension, essential, susceptibility to}, 145500 (3)
?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
EED Cohen-Gibson syndrome, 617561 (3)
ELMO2 Vascular malformation, primary intraosseous, 606893 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Hypochondroplasia, 146000 (3)
Achondroplasia, 100800 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FOXC1 Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)
Axenfeld-Rieger syndrome, type 3, 602482 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GCNT2 Adult i phenotype without cataract, 110800 (3)
Cataract 13 with adult i phenotype, 116700 (3)
[Blood group, Ii], 110800 (3)
GHR {Hypercholesterolemia, familial, modifier of}, 143890 (3)
Growth hormone insensitivity, partial, 604271 (3)
Increased responsiveness to growth hormone, 604271 (3)
Laron dwarfism, 262500 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
GUCY2C Diarrhea 6, 614616 (3)
Meconium ileus, 614665 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
INSR Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Leprechaunism, 246200 (3)
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Rabson-Mendenhall syndrome, 262190 (3)
KLC2 Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3)
KMT2A Leukemia, myeloid/lymphoid or mixed-lineage (2)
Wiedemann-Steiner syndrome, 605130 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LARS2 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
Perrault syndrome 4, 615300 (3)
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LMNB2 {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
?Epilepsy, progressive myoclonic, 9, 616540 (3)
MAFA Insulinomatosis and diabetes mellitus, 147630 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
NDUFA11 Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)
NDUFS7 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NDUFV2 Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NEU1 Sialidosis, type I, 256550 (3)
Sialidosis, type II, 256550 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NUP155 ?Atrial fibrillation 15, 615770 (3)
PIEZO2 Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
?Marden-Walker syndrome, 248700 (3)
PKD1L1 Heterotaxy, visceral, 8, autosomal, 617205 (3)
PPP2R5D Mental retardation, autosomal dominant 35, 616355 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SH3BP2 Cherubism, 118400 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SHPK [Sedoheptulokinase deficiency], 617213 (3)
SKIV2L Trichohepatoenteric syndrome 2, 614602 (3)
SLC17A3 {Gout susceptibility 4}, 612671 (3)
[Uric acid concentration, serum, QTL4], 612671 (3)
SLC6A5 Hyperekplexia 3, 614618 (3)
SPTA1 Elliptocytosis-2, 130600 (3)
Pyropoikilocytosis, 266140 (3)
Spherocytosis, type 3, 270970 (3)
SRCAP Floating-Harbor syndrome, 136140 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TEK Glaucoma 3, primary congenital, E, 617272 (3)
Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TICAM1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TOPORS Retinitis pigmentosa 31, 609923 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)
TRIT1 Combined oxidative phosphorylation deficiency 35, 617873 (3)
TRPM7 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
TUBB2B Cortical dysplasia, complex, with other brain malformations 7, 610031 (3)
VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)
Charcot-Marie-Tooth disease, type 2Y, 616687 (3)
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)

Genes at Clinical Genomics Database

ABCC8, AFG3L2, ALOXE3, ALPL, AMACR, AMH, AMPD3, AQP3, ASPM, ATM, ATXN1, BCAM, C3, C4A, C4B, CCT5, CLCN7, COL4A3BP, CYP21A2, DDX58, DNAH11, DNAH5, DNAI1, DSP, ECE1, EXOSC3, FANCE, FGFR3, FOXC1, FREM1, FUT3, FUT6, FYCO1, GCNT2, GHR, GPX4, GRHPR, GUCY2C, HMCN1, HTT, IL7R, INSR, KLC2, KMT2A, KRT9, LAMA1, LARS2, LIFR, LMNB2, MTRR, NDUFA11, NDUFS7, NDUFV2, NEU1, NHLRC1, NUP155, PIEZO2, PPP2R5D, PRX, SDHA, SH3BP2, SKIV2L, SLC6A5, SPTA1, SRCAP, TBXA2R, TEK, TICAM1, TNXB, TOPORS, TUBB2B, VCP,
ABCC8 Diabetes mellitus, transient neonatal, 2
Diabetes, permanent neonatal
Hyperinsulinemic hypoglycemia, familial, 1
Hypoglycemia, leucine-induced
AFG3L2 Spinocerebellar ataxia 28
Spastic ataxia 5, autosomal recessive
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
ALPL Hypophosphatasia, infantile
Odontohypophosphatasia
AMACR Bile acid synthesis defect, congenital, 4
Alpha-methylacyl-CoA racemase deficiency
AMH Persistent Mullerian duct syndrome, type I
AMPD3 Erythrocytic AMP deaminase deficiency
AQP3 Blood group, GIL
ASPM Microcephaly, primary autosomal recessive, 5
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
ATXN1 Spinocerebellar ataxia 1
BCAM Blood group, Lutheran system
Blood group, Auberger system
Lutheran, null
C3 Complement component 3 deficiency, autosomal recessive
Hemolytic uremic syndrome, atypical, susceptibility to, 5
C4A Blood group, Chido/Rodgers system
C4B Complement component 4B deficiency
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CLCN7 Osteopetrosis, autosomal dominant 2
Osteopetrosis, autosomal recessive 4
COL4A3BP Mental retardation, autosomal dominant 34
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
DDX58 Singleton-Merten syndrome 2
DNAH11 Ciliary dyskinesia, primary, 7
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAI1 Ciliary dyskinesia, primary, 1
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction
EXOSC3 Pontocerebellar hypoplasia type 1B
FANCE Fanconi anemia, complementation group E
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
FOXC1 Peters anomaly
Axenfeld-Rieger syndrome, type 3
Iridogoiodysgenesis, type 1
FREM1 Bifid nose with or without anorectal and renal anomalies
Trigonocephaly 2
Manitoba oculotrichoanal syndrome
Congenital diaphragmatic hernia, autosomal recessive
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
FYCO1 Cataract, autosomal recessive congenital 2
GCNT2 Blood group, Ii
Adult i phenotype without cataract
Cataract 13 with adult i phenotype
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GRHPR Hyperoxaluria, primary, type II
GUCY2C Diarrhea 6
Meconium ileus
HMCN1 Macular degeneration, age-related, 1
HTT Huntington disease
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
KLC2 Spastic paraplegia, optic atrophy, and neuropathy
KMT2A Wiedemann-Steiner syndrome
KRT9 Palmoplantar keratoderma, epidermolytic
Knuckle pads
LAMA1 Poretti-Boltshauser syndrome
LARS2 Perrault syndrome 4
LIFR Stuve-Wiedemann syndrome
LMNB2 Liopdystrophy, partial, acquired
Epilepsy, progressive myoclonic, 9
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
NDUFA11 Mitochondrial complex I deficiency
NDUFS7 Mitochondrial complex I deficiency
Leigh syndrome
NDUFV2 Mitochondrial complex I deficiency
NEU1 Sialidosis, type I
Sialidosis, type II
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
NUP155 Atrial fibrillation 15
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
PPP2R5D Mental retardation, autosomal dominant 35
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
SDHA Paragangliomas 5
Gastrointestinal stromal tumors
Cardiomyopathy, dilated, 1GG
Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SH3BP2 Cherubism
SKIV2L Trichohepatoenteric syndrome 2
SLC6A5 Hyperekplexia 3
SPTA1 Spherocytosis, type 3
Pyropoikilocytosis , hereditary
Ellipsocytosis 2
SRCAP Floating-Harbor syndrome
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TEK Venous malformations, multiple cutaneous and mucosal
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TNXB Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TOPORS Retitinis pigmentosa 31
TUBB2B Polymicrogyria, asymmetric
VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
Charcot-Marie-Tooth disease type, axonal type, 2Y
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1

Genes at HGMD

Summary

Number of Variants: 8452
Number of Genes: 200

Export to: CSV

ABCA7

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 552017_ngs_ex 19 . 1051215 0.0 A G PASS 0/1 59 None None None None None None None None None ABCA7|0.007770288|82.8%
View 552017_ngs_ex 19 . 1049270 0.0 G A PASS 0/1 76 None None None 0.33 0.15 None None None None None None ABCA7|0.007770288|82.8%
View 552017_ngs_ex 19 . 1047162 0.0 A G PASS 1/1 146 None None None None None None None None None ABCA7|0.007770288|82.8%
View 552017_ngs_ex 19 . 1047003 0.0 A G PASS 1/1 101 None None None 0.00 1.00 None None None None None None ABCA7|0.007770288|82.8%
View 552017_ngs_ex 19 . 1042810 0.0 A G PASS 0/1 62 None None None None None None None None None ABCA7|0.007770288|82.8%
View 552017_ngs_ex 19 . 1065019 0.0 G T sbF 0/1 77 None None None 0.10 0.27 None None None None None None ABCA7|0.007770288|82.8%
View 552017_ngs_ex 19 . 1064194 0.0 G A PASS 0/1 81 None None None 0.00 0.35 None None None None None None ABCA7|0.007770288|82.8%
View 552017_ngs_ex 19 . 1058212 0.0 C T PASS 0/1 110 None None None 0.02 0.97 None None None None None None ABCA7|0.007770288|82.8%
View 552017_ngs_ex 19 . 1056493 0.0 G C PASS 0/1 133 None None None None None None None None None ABCA7|0.007770288|82.8%

ABCC8

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 552017_ngs_ex 11 . 17498195 0.0 C G sbF 0/1 44 None None None None None None None None None ABCC8|0.967482639|1.79%

ADAMTS16

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 552017_ngs_ex 5 . 5146264 0.0 T C PASS 0/1 137 None None None 0.07 1.00 None None None None None None ADAMTS16|0.017832591|75.4%
View 552017_ngs_ex 5 . 5146282 0.0 A G PASS 0/1 146 None None None None None None None None None ADAMTS16|0.017832591|75.4%

ADCYAP1

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 552017_ngs_ex 18 . 909560 0.0 A G PASS 0/1 138 None None None 0.06 0.61 None None None None None None None
View 552017_ngs_ex 18 . 907674 0.0 G A PASS 0/1 124 None None None 0.01 0.10 None None None None None None None

AFG3L2

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 552017_ngs_ex 18 . 12348286 0.0 T C PASS 0/1 77 None None None 0.00 0.94 None None None None None None AFG3L2|0.258891122|30.83%
View 552017_ngs_ex 18 . 12351343 0.0 C T PASS 0/1 64 None None None 0.00 1.00 None None None None None None AFG3L2|0.258891122|30.83%

ALDH16A1

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 552017_ngs_ex 19 . 49973614 0.0 C G PASS 0/1 104 None None None None None None None None None ALDH16A1|0.021103617|73.62%

ALDH9A1

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 552017_ngs_ex 1 . 165649842 0.0 C T sbF 0/1 42 None None None 0.00 1.00 None None None None None None ALDH9A1|0.055569137|61.04%

ALOXE3

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 552017_ngs_ex 17 . 8012602 0.0 G A PASS 0/1 46 None None None None None None None None None ALOXE3|0.073088496|56.77%

ALPL

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 552017_ngs_ex 1 . 21890615 0.0 G A PASS 1/1 70 None None None None None None None None None ALPL|0.999977593|0.11%

AMACR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 552017_ngs_ex 5 . 33998778 0.0 A G PASS 0/1 131 None None None 0.00 0.92 None None None None None None AMACR|0.038358163|66.34%
View 552017_ngs_ex 5 . 33989413 0.0 C T PASS 0/1 130 None None None None None None None None None AMACR|0.038358163|66.34%

AMH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 552017_ngs_ex 19 . 2251513 0.0 T A PASS 0/1 45 None None None 0.52 0.02 None None None None None None AMH|0.062219269|59.26%
View 552017_ngs_ex 19 . 2251818 0.0 T C PASS 1/1 82 None None None None None None None None None AMH|0.062219269|59.26%
View 552017_ngs_ex 19 . 2249478 0.0 G T PASS 1/1 105 None None None None None None None None None AMH|0.062219269|59.26%

AMPD3

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 552017_ngs_ex 11 . 10500217 0.0 T C PASS 0/1 60 None None None None None None None None None AMPD3|0.504907229|15.58%

ANKRD9

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 552017_ngs_ex 14 . 102974136 0.0 G C PASS 1/1 139 None None None 0.01 0.05 None None None None None None ANKRD9|0.023646247|72.35%

APOBEC3B

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 552017_ngs_ex 22 . 39381817 0.0 C CCAA PASS 0/1 88 None None None None None None None None None APOBEC3B|0.000325736|99.32%

AQP3

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 552017_ngs_ex 9 . 33447426 0.0 C G sbF 0/1 91 None None None None None None None None None AQP3|0.497451011|15.96%
View 552017_ngs_ex 9 . 33442954 0.0 G A PASS 0/1 92 None None None None None None None None None AQP3|0.497451011|15.96%

AQP7

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 552017_ngs_ex 9 . 33395198 0.0 A G PASS 1/1 63 None None None None None None None None None AQP7|0.012677613|78.76%

ARFRP1

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 552017_ngs_ex 20 . 62338071 0.0 A G PASS 0/1 92 None None None 0.00 0.99 None None None None None None ARFRP1|0.101604996|50.84%

ARHGEF11

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 552017_ngs_ex 1 . 156913754 0.0 A G PASS 0/1 109 None None None 0.00 0.85 None None None None None None ARHGEF11|0.107056542|49.78%

ARVCF

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 552017_ngs_ex 22 . 19968739 0.0 G GC PASS 1/1 46 None None None None None None None None None ARVCF|0.083030294|54.56%

ASGR2

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 552017_ngs_ex 17 . 7010333 0.0 G A PASS 0/1 42 None None None None None None None None None ASGR2|0.003649861|87.52%

ASPM

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 552017_ngs_ex 1 . 197061071 0.0 T C PASS 0/1 59 None None None 0.05 0.99 None None None None None None ASPM|0.161871432|41.31%

ATM

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 552017_ngs_ex 11 . 108121619 0.0 G C sbF 0/1 95 None None None 0.29 0.00 None None None None None None ATM|0.992666029|0.97%
View 552017_ngs_ex 11 . 108121598 0.0 T A sbF 0/1 100 None None None 1.00 0.00 None None None None None None ATM|0.992666029|0.97%

ATP2B4

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 552017_ngs_ex 1 . 203683316 0.0 A G PASS 1/1 159 None None None None None None None None None ATP2B4|0.129216879|45.98%

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 552017_ngs_ex 6 . 16306627 0.0 G A PASS 0/1 138 None None None 0.00 1.00 None None None None None None ATXN1|0.832563526|5.05%
View 552017_ngs_ex 6 . 16327384 0.0 A G PASS 0/1 79 None None None None None None None None None ATXN1|0.832563526|5.05%
View 552017_ngs_ex 6 . 16327684 0.0 A C PASS 0/1 128 None None None None None None None None None ATXN1|0.832563526|5.05%
View 552017_ngs_ex 6 . 16327633 0.0 G GTGC PASS 0/1 124 None None None None None None None None None ATXN1|0.832563526|5.05%

BCAM

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 552017_ngs_ex 19 . 45315577 0.0 A G PASS 1/1 83 None None None None None None None None None BCAM|0.011093426|79.98%

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 552017_ngs_ex 6 . 26505175 0.0 C A PASS 0/1 70 None None None None None None None None None BTN1A1|0.010791735|80.28%

BX255923.1

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 552017_ngs_ex 9 . 69252898 0.0 G A PASS 0/1 35 None None None None None None None None None CBWD6|0.011508605|79.59%

C1orf111

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 552017_ngs_ex 1 . 162343945 0.0 C T PASS 0/1 65 None None None 0.10 0.55 None None None None None None NOS1AP|0.368787002|22.78%,C1orf226|0.034731923|67.54%,C1orf111|0.035704326|67.23%

C3

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 552017_ngs_ex 19 . 6709837 0.0 C T PASS 0/1 44 None None None 0.18 0.01 None None None None None None C3|0.038713281|66.19%
View 552017_ngs_ex 19 . 6710771 0.0 G T sbF 0/1 82 None None None 0.04 0.95 None None None None None None C3|0.038713281|66.19%
View 552017_ngs_ex 19 . 6681980 0.0 G A sbF 0/1 82 None None None 0.00 0.98 None None None None None None C3|0.038713281|66.19%
View 552017_ngs_ex 19 . 6713251 0.0 G A PASS 0/1 175 None None None 0.01 0.42 None None None None None None C3|0.038713281|66.19%
View 552017_ngs_ex 19 . 6718376 0.0 G C PASS 0/1 54 None None None 0.04 0.02 None None None None None None C3|0.038713281|66.19%
View 552017_ngs_ex 19 . 6690733 0.0 A G PASS 0/1 81 None None None None None None None None None C3|0.038713281|66.19%
View 552017_ngs_ex 19 . 6678463 0.0 G A PASS 0/1 21 None None None 0.01 0.94 None None None None None None C3|0.038713281|66.19%
View 552017_ngs_ex 19 . 6690731 0.0 A G PASS 0/1 79 None None None 0.21 0.03 None None None None None None C3|0.038713281|66.19%
View 552017_ngs_ex 19 . 6690735 0.0 A G PASS 0/1 80 None None None None None None None None None C3|0.038713281|66.19%
View 552017_ngs_ex 19 . 6697395 0.0 A G sbF 0/1 97 None None None 0.24 0.00 None None None None None None C3|0.038713281|66.19%
View 552017_ngs_ex 19 . 6702587 0.0 G A PASS 0/1 63 None None None 0.05 0.16 None None None None None None C3|0.038713281|66.19%

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 552017_ngs_ex 6 . 31961237 0.0 A C PASS 0/1 70 None None None 0.00 1.00 None None None None None None C4A|0.012992445|78.51%
View 552017_ngs_ex 6 . 31967087 0.0 G A PASS 0/1 121 None None None None None None None None None C4A|0.012992445|78.51%
View 552017_ngs_ex 6 . 31968891 0.0 T C PASS 0/1 172 None None None 0.00 0.96 None None None None None None C4A|0.012992445|78.51%
View 552017_ngs_ex 6 . 31968902 0.0 C T PASS 0/1 185 None None None 0.00 0.89 None None None None None None C4A|0.012992445|78.51%

C4B

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 552017_ngs_ex 6 . 31993949 0.0 G A PASS 0/1 16 None None None None None None None None None C4B|0.020653435|73.86%
View 552017_ngs_ex 6 . 31996009 0.0 C A PASS 0/1 77 None None None 0.02 0.99 None None None None None None C4B|0.020653435|73.86%

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 552017_ngs_ex 6 . 36293081 0.0 C T PASS 1/1 57 None None None 0.18 0.65 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 552017_ngs_ex 6 . 31626851 0.0 T A PASS 0/1 85 None None None None None None None None None C6orf47|0.057785703|60.46%

C7orf60

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 552017_ngs_ex 7 . 112462300 0.0 T G PASS 0/1 71 None None None None None None None None None C7orf60|0.553008383|13.59%

CACNA1E

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 552017_ngs_ex 1 . 181732663 0.0 T A PASS 1/1 86 None None None 0.00 0.98 None None None None None None CACNA1E|0.552106709|13.63%

CCNA2

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 552017_ngs_ex 4 . 122743764 0.0 A G PASS 0/1 48 None None None 0.23 0.00 None None None None None None CCNA2|0.718963702|7.99%

CCT5

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 552017_ngs_ex 5 . 10262628 0.0 C A PASS 1/1 18 None None None None None None None None None CCT5|0.365250197|23.05%

CD72

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 552017_ngs_ex 9 . 35612981 0.0 G A PASS 0/1 75 None None None 0.00 0.99 None None None None None None CD72|0.003265069|88.17%

CDC42BPG

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 552017_ngs_ex 11 . 64607727 0.0 G T PASS 0/1 36 None None None None None None None None None CDC42BPG|0.040902186|65.46%

CDH12

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 552017_ngs_ex 5 . 21751947 0.0 A G sbF 1/1 168 None None None 0.00 0.66 None None None None None None CDH12|0.569953447|12.98%
View 552017_ngs_ex 5 . 21751941 0.0 A G sbF 1/1 165 None None None 0.03 0.68 None None None None None None CDH12|0.569953447|12.98%

CDH7

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 552017_ngs_ex 18 . 63489373 0.0 G C PASS 1/1 49 None None None None None None None None None CDH7|0.157743367|41.9%

CHRD

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 552017_ngs_ex 3 . 184105788 0.0 T C sbF 1/1 32 None None None 0.27 0.17 None None None None None None EIF2B5|0.736636231|7.47%,CHRD|0.912759797|3.17%

CLCN7

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 552017_ngs_ex 16 . 1524862 0.0 G A PASS 0/1 117 None None None None None None None None None CLCN7|0.061996172|59.31%

CLTCL1

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 552017_ngs_ex 22 . 19196584 0.0 T C PASS 1/1 39 None None None 0.03 1.00 None None None None None None CLTCL1|0.022666116|72.86%

CMYA5

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 552017_ngs_ex 5 . 79030927 0.0 G C PASS 0/1 99 None None None None None None None None None CMYA5|0.014181606|77.74%
View 552017_ngs_ex 5 . 79032737 0.0 G A sbF 0/1 68 None None None 0.02 0.03 None None None None None None CMYA5|0.014181606|77.74%
View 552017_ngs_ex 5 . 79028529 0.0 A G PASS 0/1 69 None None None 0.91 0.00 None None None None None None CMYA5|0.014181606|77.74%
View 552017_ngs_ex 5 . 79028659 0.0 T C sbR 0/1 28 None None None None None None None None None CMYA5|0.014181606|77.74%

COL4A3BP

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 552017_ngs_ex 5 . 74685445 0.0 T C PASS 1/1 147 None None None 0.03 0.91 None None None None None None COL4A3BP|0.526131539|14.73%

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 552017_ngs_ex 6 . 32007374 0.0 T G sbF 0/1 22 None None None 0.70 0.01 None None None None None None CYP21A2|0.039907204|65.79%
View 552017_ngs_ex 6 . 32007336 0.0 G C sbF 0/1 22 None None None 0.01 0.02 None None None None None None CYP21A2|0.039907204|65.79%

DDX58

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 552017_ngs_ex 9 . 32457191 0.0 T C PASS 0/1 93 None None None 0.76 0.05 None None None None None None DDX58|0.150707503|42.88%

DNAH11

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 552017_ngs_ex 7 . 21784504 0.0 G A PASS 0/1 36 None None None 0.42 0.04 None None None None None None DNAH11|0.38215847|21.9%

DNAH5

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 552017_ngs_ex 5 . 13844998 0.0 A G PASS 0/1 78 None None None None None None None None None DNAH5|0.235040337|32.91%
View 552017_ngs_ex 5 . 13864619 0.0 C A PASS 0/1 69 None None None 0.01 0.97 None None None None None None DNAH5|0.235040337|32.91%
View 552017_ngs_ex 5 . 13829690 0.0 G A PASS 0/1 84 None None None 0.47 0.36 None None None None None None DNAH5|0.235040337|32.91%
View 552017_ngs_ex 5 . 13865871 0.0 T C PASS 0/1 26 None None None 0.05 0.16 None None None None None None DNAH5|0.235040337|32.91%
View 552017_ngs_ex 5 . 13762863 0.0 T C PASS 0/1 43 None None None 0.00 0.49 None None None None None None DNAH5|0.235040337|32.91%
View 552017_ngs_ex 5 . 13867994 0.0 TA T PASS 0/1 26 None None None None None None None None None DNAH5|0.235040337|32.91%
View 552017_ngs_ex 5 . 13701427 0.0 T C PASS 0/1 97 None None None 0.00 1.00 None None None None None None DNAH5|0.235040337|32.91%
View 552017_ngs_ex 5 . 13701416 0.0 T C PASS 0/1 98 None None None None None None None None None DNAH5|0.235040337|32.91%
View 552017_ngs_ex 5 . 13886135 0.0 CAA C PASS 0/1 26 None None None None None None None None None DNAH5|0.235040337|32.91%
View 552017_ngs_ex 5 . 13894785 0.0 T A PASS 0/1 145 None None None 0.73 0.16 None None None None None None DNAH5|0.235040337|32.91%

DNAI1

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 552017_ngs_ex 9 . 34500823 0.0 G A PASS 0/1 68 None None None None None None None None None DNAI1|0.605349786|11.63%

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 552017_ngs_ex 6 . 7584384 0.0 C T PASS 0/1 73 None None None 0.04 1.00 None None None None None None DSP|0.573194355|12.87%

ECE1

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 552017_ngs_ex 1 . 21563291 0.0 CG C PASS 0/1 68 None None None None None None None None None ECE1|0.516649738|15.12%