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Genes:
A4GALT, AC002472.13, AC006547.14, AC006946.15, AC008132.13, ACO2, ACR, ADM2, AIFM3, AP000350.4, AP1B1, APOBEC3B, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, BAIAP2L2, BCL2L13, BCR, BPIFC, C1QTNF6, C22orf15, C22orf23, C22orf26, C22orf31, C22orf34, C22orf42, C22orf46, CABIN1, CACNA1I, CARD10, CBY1, CCDC116, CCDC157, CCT8L2, CDC42EP1, CECR1, CECR5, CECR6, CELSR1, CENPM, CERK, CHCHD10, CLTCL1, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CTA-299D3.8, CYP2D6, CYP2D7P, CYTH4, DENND6B, DEPDC5, DERL3, DGCR6L, DNAL4, EFCAB6, EIF4ENIF1, ELFN2, EMID1, EP300, FAM118A, FAM19A5, FAM211B, FAM230A, FAM83F, FBLN1, FBXO7, FLJ27365, FOXRED2, GAB4, GALR3, GAS2L1, GCAT, GGT1, GGT2, GGTLC2, GRAMD4, GTSE1, HDAC10, HIC2, HMGXB4, HPS4, IFT27, IGLC3, IGLJ2, IGLJ3, IGLJ5, IGLJ7, IGLL1, IGLV1-47, IGLV1-50, IGLV10-54, IGLV2-14, IGLV2-18, IGLV2-23, IGLV3-12, IGLV3-16, IGLV3-21, IGLV3-22, IGLV3-25, IGLV4-60, IGLV5-37, IGLV5-45, IGLV5-48, IGLV6-57, IGLV7-46, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1644, KIAA1671, KLHDC7B, L3MBTL2, LIMK2, LL22NC03-75H12.2, LMF2, LRP5L, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MED15, MEI1, MGAT3, MICAL3, MIEF1, MKL1, MMP11, MOV10L1, MTFP1, MTMR3, MYH9, MYO18B, NAGA, NCF4, NEFH, NIPSNAP1, NPTXR, OR11H1, OSBP2, P2RX6, PACSIN2, PANX2, PARVG, PATZ1, PHF21B, PI4KA, PIK3IP1, PIM3, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PNPLA3, PNPLA5, POM121L7, PPIL2, PPM1F, PPP6R2, PRAME, PRODH, PRR5, RAB36, RANGAP1, RBFOX2, RFPL1, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RNF215, RPL3, RRP7A, RTCB, RTDR1, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SEC14L2, SEC14L3, SEC14L6, SERPIND1, SEZ6L, SFI1, SHANK3, SLC16A8, SLC2A11, SLC35E4, SLC5A1, SLC7A4, SMARCB1, SMC1B, SMTN, SNAP29, SNRPD3, SOX10, SPECC1L, SRRD, SUN2, SUSD2, TBC1D22A, TBX1, TCF20, TCN2, TEX33, TFIP11, THAP7, THOC5, TMPRSS6, TNRC6B, TOB2, TOM1, TOP3B, TPST2, TRABD, TRIOBP, TRMT2A, TSPO, TST, TTC28, TTC38, TTLL1, TTLL12, TTLL8, TUBA8, TUBGCP6, TXNRD2, TYMP, UPK3A, USP18, USP41, WBP2NL, XKR3, XPNPEP3, YDJC, ZBED4, ZDHHC8, ZNF280A, ZNF280B, ZNRF3,

Genes at Omim

A4GALT, ACO2, ACR, APOL1, APOL2, APOL4, ARSA, BCR, CHCHD10, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYP2D6, DEPDC5, DNAL4, EP300, FBLN1, FBXO7, GGT1, GGT2, HPS4, IFT27, IGLL1, IL17RA, KCTD17, MCM5, MKL1, MYH9, MYO18B, NAGA, NCF4, NEFH, PI4KA, PLA2G6, PRODH, SBF1, SCARF2, SCO2, SHANK3, SLC5A1, SMARCB1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TMPRSS6, TRIOBP, TUBA8, TUBGCP6, TXNRD2, TYMP, USP18, XPNPEP3,
A4GALT NOR polyagglutination syndrome, 111400 (3)
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)
[Blood group, P1Pk system, p phenotype], 111400 (3)
ACO2 Infantile cerebellar-retinal degeneration, 614559 (3)
?Optic atrophy 9, 616289 (3)
ACR ?Male infertility due to acrosin deficiency (2)
APOL1 {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
{End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
APOL2 {Schizophrenia}, 181500 (1)
APOL4 {Schizophrenia}, 181500 (1)
ARSA Metachromatic leukodystrophy, 250100 (3)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
CHCHD10 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3)
?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3)
Spinal muscular atrophy, Jokela type, 615048 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4 Cataract 23, 610425 (3)
CRYBB2 Cataract 3, multiple types, 601547 (3)
CRYBB3 Cataract 22, 609741 (3)
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (3)
DNAL4 ?Mirror movements 3, 616059 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
FBXO7 Parkinson disease 15, autosomal recessive, 260300 (3)
GGT1 ?Glutathioninuria, 231950 (3)
GGT2 [Gamma-glutamyltransferase, familial high serum] (2)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
IFT27 ?Bardet-Biedl syndrome 19, 615996 (3)
IGLL1 Agammaglobulinemia 2, 613500 (3)
IL17RA Immunodeficiency 51, 613953 (3)
KCTD17 Dystonia 26, myoclonic, 616398 (3)
MCM5 ?Meier-Gorlin syndrome 8, 617564 (3)
MKL1 Megakaryoblastic leukemia, acute (3)
MYH9 Deafness, autosomal dominant 17, 603622 (3)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
NAGA Kanzaki disease, 609242 (3)
Schindler disease, type I, 609241 (3)
Schindler disease, type III, 609241 (3)
NCF4 ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PLA2G6 Infantile neuroaxonal dystrophy 1, 256600 (3)
Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Parkinson disease 14, autosomal recessive, 612953 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
SBF1 Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Myopia 6, 608908 (3)
SHANK3 {Schizophrenia 15}, 613950 (3)
Phelan-McDermid syndrome, 606232 (3)
SLC5A1 Glucose/galactose malabsorption, 606824 (3)
SMARCB1 Coffin-Siris syndrome 3, 614608 (3)
{Rhabdoid tumor predisposition syndrome 1}, 609322 (3)
{Schwannomatosis-1, susceptibility to}, 162091 (3)
Rhabdoid tumors, somatic, 609322 (3)
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SOX10 PCWH syndrome, 609136 (3)
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
Waardenburg syndrome, type 4C, 613266 (3)
SPECC1L Hypertelorism, Teebi type, 145420 (3)
?Facial clefting, oblique, 1, 600251 (3)
Opitz GBBB syndrome, type II, 145410 (3)
TBX1 Conotruncal anomaly face syndrome, 217095 (3)
DiGeorge syndrome, 188400 (3)
Tetralogy of Fallot, 187500 (3)
Velocardiofacial syndrome, 192430 (3)
TCN2 Transcobalamin II deficiency, 275350 (3)
TMPRSS6 Iron-refractory iron deficiency anemia, 206200 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TUBA8 Cortical dysplasia, complex, with other brain malformations 8, 613180 (3)
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TXNRD2 ?Glucocorticoid deficiency 5, 617825 (3)
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
USP18 Pseudo-TORCH syndrome 2, 617397 (3)
XPNPEP3 Nephronophthisis-like nephropathy 1, 613159 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ARSA, BCR, CECR1, CHCHD10, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYP2D6, DEPDC5, DNAL4, EP300, FBLN1, FBXO7, HPS4, IFT27, IGLL1, IL17RA, KCTD17, MYH9, MYO18B, NAGA, NCF4, NEFH, PI4KA, PLA2G6, PRODH, SBF1, SCARF2, SCO2, SERPIND1, SHANK3, SLC5A1, SMARCB1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TMPRSS6, TRIOBP, TUBA8, TUBGCP6, TYMP, UPK3A, XPNPEP3,
A4GALT Blood group, P system
ACO2 Infantile cerebellar-retinal degeneration
Optic atrophy 9
ARSA Metachromatic leukodystrophy
BCR CML treatment, response to
CECR1 Polyarteritis nodosa, childhood-onset (ADA2 deficiency)
Sneddon syndrome
CHCHD10 Myopathy, isolated mitochondrial, autosomal dominant
COMT Medication response, association with
CRYBA4 Cataract 23
CRYBB2 Cataract, sutural, with punctate and cerulean opacities
Cataract, Coppock-like
Cataract, congenital, cerulean type, 2
CRYBB3 Cataract, congenital nuclear, autosomal recessive, 2
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5
CYP2D6 Drug metabolism, CYP2CD6-related
DEPDC5 Epilepsy, familial focal, with variable foci
DNAL4 Mirror movements 3
EP300 Rubinstein-Taybi syndrome 2
FBLN1 Synpolydactyly 2
FBXO7 Parkinson disease 15, autosomal recessive
HPS4 Hermansky-Pudlak syndrome 4
IFT27 Bardet Biedl syndrome 19
IGLL1 Agammaglobulinemia 2
IL17RA Candiasis, familial, 5
KCTD17 Dystonia 26, myoclonic
MYH9 Sebastian syndrome
May-Hegglin anomaly
Fechtner syndrome
Epstein syndrome
Macrothrombocytopenia and progressive sensorineural deafness
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
NAGA Kanzaki disease
Alpha-n-acetylgalactosaminidase deficiency
Schindler disease type I
Schindler disease type III
NCF4 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
PI4KA Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
PLA2G6 Parkinson disease 14, autosomal recessive
Neurodegeneration with brain iron accumulation 2A
Neurodegeneration with brain iron accumulation 2B
PRODH Hyperprolinemia, type I
SBF1 Charcot-Marie-Tooth disease, type 4B3
SCARF2 Van den Ende-Gupta syndrome
SCO2 Myopia 6
Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Hypertrophic cardiomyopathy
SERPIND1 Heparin cofactor II deficiency
SHANK3 Phelan-McDermid syndrome
Schizophrenia
SLC5A1 Glucose/galactose malabsorption
SMARCB1 Schwannomatosis
Rhabdoid tumor predisposition syndrome
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SOX10 Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Hirschsprung disease, susceptibility to, 10
SPECC1L Facial clefting, oblique, 1
Opitz GBBB syndrome, type II
TBX1 Conotruncal anomaly face syndrome
Tetralogy of Fallot
TCN2 Transcobalamin II deficiency
TMPRSS6 Iron-refractory iron deficiency anemia
TRIOBP Deafness, autosomal recessive 28
TUBA8 Polymicrogyria with optic nerve hypoplasia
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive 1
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UPK3A Renal/urogenital adysplasia
XPNPEP3 Nephronophthisis-like nephropathy 1

Genes at HGMD

Summary

Number of Variants: 3836
Number of Genes: 268

Export to: CSV

A4GALT

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 combined sample_66.variant27 22 rs6002904
dbSNP Clinvar
43089055 2572.37 G C PASS 0/1 168 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.34674 None None None None None None A4GALT|0.02220674|73.08%

AC002472.13

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_66.variant27 22 rs28504593
dbSNP Clinvar
21403375 224.22 C A PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.18311 0.18310 0.00 1.00 None None None None None None None
View combined sample_66.variant27 22 rs28450680
dbSNP Clinvar
21403376 224.22 C T PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.18311 0.18310 None None None None None None None

AC006547.14

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_66.variant27 22 rs175181
dbSNP Clinvar
20136263 1067.63 G A PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.19369 0.19370 None None None None None None None
View combined sample_66.variant27 22 rs73391926
dbSNP Clinvar
20138105 1529.29 T C PASS 0/1 113 SYNONYMOUS_CODING LOW None 0.46985 0.46980 None None None None None None None
View combined sample_66.variant27 22 rs139050179
dbSNP Clinvar
20137723 2032.0 C T PASS 0/1 202 SYNONYMOUS_CODING LOW None 0.22963 0.22960 None None None None None None None

AC006946.15

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_66.variant27 22 rs5992629
dbSNP Clinvar
17602839 1708.17 G A PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.87820 0.87820 None None None None None None None
View combined sample_66.variant27 22 rs5748871
dbSNP Clinvar
17603477 1942.46 A G PASS 0/1 56 None None None 0.44828 0.44830 0.00 None None None None None None None

AC008132.13

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 combined sample_66.variant27 22 rs62231276
dbSNP Clinvar
18835221 74.79 A G PASS 1/1 140 SYNONYMOUS_CODING LOW None 0.89397 0.89400 None None None None None None None
View combined sample_66.variant27 22 rs62231277
dbSNP Clinvar
18835365 1985.47 T G PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.77496 0.77500 None None None None None None None
View combined sample_66.variant27 22 . 18835163 859.28 G A PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.17 0.04 None None None None None None None
View combined sample_66.variant27 22 rs16987804
dbSNP Clinvar
18835403 343.05 A G PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None

ACO2

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_66.variant27 22 rs1799932
dbSNP Clinvar
41911525 1390.58 C T PASS 1/1 160 SYNONYMOUS_CODING LOW None 0.27037 0.27040 0.38375 None None None None None None ACO2|0.657906877|9.8%

ACR

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_66.variant27 22 rs5771002
dbSNP Clinvar
51183255 595.6 A G PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.72584 0.72580 0.57 0.02 None None None None None None ACR|0.009551139|81.19%

ADM2

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_66.variant27 22 rs2236031
dbSNP Clinvar
50921694 2196.8 C T PASS 0/1 217 SYNONYMOUS_CODING LOW None 0.22544 0.22540 None None None None None None ADM2|0.006259599|84.34%

AIFM3

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_66.variant27 22 rs7285694
dbSNP Clinvar
21330787 8156.36 C T PASS 1/1 365 SYNONYMOUS_CODING LOW None 0.19129 0.19130 0.27172 None None None None None None AIFM3|0.183569407|38.59%
View combined sample_66.variant27 22 rs178269
dbSNP Clinvar
21331043 4749.67 A T PASS 1/1 155 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None AIFM3|0.183569407|38.59%

AP000350.4

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_66.variant27 22 rs2070767
dbSNP Clinvar
24237463 1179.28 T C PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.77197 0.77200 0.00 None None None None None None None

AP1B1

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_66.variant27 22 rs2857465
dbSNP Clinvar
29727886 5890.89 T C PASS 1/1 185 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00008 1.00 0.00 None None None None None None AP1B1|0.336808042|25.03%

APOBEC3B

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_66.variant27 22 rs2076111
dbSNP Clinvar
39381999 1324.43 T C PASS 0/1 153 SYNONYMOUS_CODING LOW None None None None None None None APOBEC3B|0.000325736|99.32%
View combined sample_66.variant27 22 rs1065184
dbSNP Clinvar
39387558 1841.3 C T PASS 0/1 186 SYNONYMOUS_CODING LOW None 0.48365 None None None None None None APOBEC3B|0.000325736|99.32%
View combined sample_66.variant27 22 rs5995649
dbSNP Clinvar
39382079 2094.74 C A PASS 1/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.04888 1.00 0.00 None None None None None None APOBEC3B|0.000325736|99.32%
View combined sample_66.variant27 22 rs2076109
dbSNP Clinvar
39381826 1295.32 A G PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.64117 0.64120 0.39427 0.77 0.00 None None None None None None APOBEC3B|0.000325736|99.32%

APOBEC3F

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_66.variant27 22 rs2020390
dbSNP Clinvar
39441096 451.81 G T PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.53375 0.53370 0.15 1.00 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View combined sample_66.variant27 22 rs5750728
dbSNP Clinvar
39440149 1279.17 C T PASS 0/1 124 None None None 0.50000 0.50000 0.43758 0.44 0.01 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View combined sample_66.variant27 22 rs4821862
dbSNP Clinvar
39441203 775.49 C T PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.59345 0.59350 0.46363 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View combined sample_66.variant27 22 rs2076101
dbSNP Clinvar
39445554 2199.02 G A PASS 0/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.49541 0.49540 0.43426 0.16 0.90 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%

APOBEC3G

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_66.variant27 22 rs5757465
dbSNP Clinvar
39477123 2947.29 T C PASS 1/1 156 SYNONYMOUS_CODING LOW None 0.28455 0.28450 0.31755 None None None None None None APOBEC3G|0.000537592|98.25%

APOBEC3H

Omim - GeneCards - NCBI
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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_66.variant27 22 rs139300
dbSNP Clinvar
39497509 773.62 A G PASS 1/1 22 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None APOBEC3H|0.000715686|97.18%

APOL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs2239785
dbSNP Clinvar
36661330 3830.68 G A PASS 1/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.67812 0.67810 0.34715 0.16 0.89 None None None None None None APOL1|0.000329557|99.31%
View combined sample_66.variant27 22 rs136174
dbSNP Clinvar
36661536 2976.43 C A PASS 1/1 183 SYNONYMOUS_CODING LOW None 0.86422 0.86420 0.15324 None None None None None None APOL1|0.000329557|99.31%
View combined sample_66.variant27 22 rs136175
dbSNP Clinvar
36661566 3803.85 G A PASS 1/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.86422 0.86420 0.15308 0.04 0.00 None None None None None None APOL1|0.000329557|99.31%
View combined sample_66.variant27 22 rs136176
dbSNP Clinvar
36661646 4841.1 G A PASS 1/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.86262 0.86260 0.15101 1.00 0.00 None None None None None None APOL1|0.000329557|99.31%
View combined sample_66.variant27 22 rs136177
dbSNP Clinvar
36661842 1850.89 G A PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.85324 0.85320 0.16023 None None None None None None APOL1|0.000329557|99.31%

APOL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs132760
dbSNP Clinvar
36623731 3966.55 T C PASS 1/1 166 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.66 0.00 None None None None None None APOL2|0.000262519|99.56%
View combined sample_66.variant27 22 rs2010499
dbSNP Clinvar
36629466 919.85 T A PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.17053 0.17050 0.03 0.16 None None None None None None APOL2|0.000262519|99.56%

APOL3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs61731692
dbSNP Clinvar
36537725 2131.27 G A PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.09425 0.09425 0.13140 None None None None None None APOL3|0.000202491|99.75%
View combined sample_66.variant27 22 rs3827346
dbSNP Clinvar
36537893 1823.28 A G PASS 0/1 142 SYNONYMOUS_CODING LOW None 0.25919 0.25920 0.13940 None None None None None None APOL3|0.000202491|99.75%
View combined sample_66.variant27 22 rs132642
dbSNP Clinvar
36545137 1072.51 A T PASS 1/1 124 None None None 0.94169 0.94170 0.11710 0.00 None None None None None None APOL3|0.000202491|99.75%
View combined sample_66.variant27 22 rs132653
dbSNP Clinvar
36556823 1656.19 G T PASS 1/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.78474 0.78470 0.28410 0.31 None None None None None None APOL3|0.000202491|99.75%

APOL4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs2227168
dbSNP Clinvar
36587511 3084.54 C T PASS 0/1 238 NON_SYNONYMOUS_CODING MODERATE None 0.65316 0.65320 0.44114 0.58 0.00 None None None None None None APOL4|0.000586223|97.99%
View combined sample_66.variant27 22 rs6000172
dbSNP Clinvar
36587202 1619.38 G A PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.64697 0.64700 0.44227 0.00 0.02 None None None None None None APOL4|0.000586223|97.99%
View combined sample_66.variant27 22 rs6000173
dbSNP Clinvar
36587223 1662.98 G T PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.64717 0.64720 0.44378 0.00 0.66 None None None None None None APOL4|0.000586223|97.99%
View combined sample_66.variant27 22 rs6000174
dbSNP Clinvar
36587279 1229.3 A G PASS 0/1 148 SYNONYMOUS_CODING LOW None 0.64697 0.64700 0.44084 None None None None None None APOL4|0.000586223|97.99%
View combined sample_66.variant27 22 rs6000181
dbSNP Clinvar
36598081 1103.55 A T PASS 0/1 109 START_LOST HIGH None 0.07668 0.07668 0.08435 0.00 0.40 None None None None None None APOL4|0.000586223|97.99%
View combined sample_66.variant27 22 rs132736
dbSNP Clinvar
36598058 1846.19 T C PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.62121 0.62120 0.47593 1.00 0.00 None None None None None None APOL4|0.000586223|97.99%
View combined sample_66.variant27 22 rs80587
dbSNP Clinvar
36598049 1919.2 C G PASS 0/1 149 NON_SYNONYMOUS_CODING MODERATE None 0.62101 0.62100 0.47578 1.00 0.00 None None None None None None APOL4|0.000586223|97.99%
View combined sample_66.variant27 22 rs2007468
dbSNP Clinvar
36591380 1313.08 A G PASS 0/1 198 SYNONYMOUS_CODING LOW None 0.70068 0.70070 0.38713 None None None None None None APOL4|0.000586223|97.99%
View combined sample_66.variant27 22 rs2227167
dbSNP Clinvar
36587486 2841.25 A G PASS 0/1 221 SYNONYMOUS_CODING LOW None 0.64736 0.64740 0.44397 None None None None None None APOL4|0.000586223|97.99%
View combined sample_66.variant27 22 rs2227169
dbSNP Clinvar
36587952 798.91 C T PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.64257 0.64260 0.44647 None None None None None None APOL4|0.000586223|97.99%
View combined sample_66.variant27 22 rs5845253,rs3075364
dbSNP Clinvar
36587845 4039.83 A ACT PASS 0/1 149 None None None 0.67572 0.67570 0.40732 None None None None None None APOL4|0.000586223|97.99%
View combined sample_66.variant27 22 rs146308862
dbSNP Clinvar
36587682 1970.17 C T PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00162 0.03 1.00 None None None None None None APOL4|0.000586223|97.99%

ARFGAP3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs738535
dbSNP Clinvar
43203137 2194.29 C T PASS 0/1 198 SYNONYMOUS_CODING LOW None 0.31010 0.31010 0.41727 None None None None None None ARFGAP3|0.023747491|72.32%
View combined sample_66.variant27 22 rs1018448
dbSNP Clinvar
43206950 1332.02 A C PASS 0/1 101 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.70188 0.70190 0.34669 0.79 0.00 None None None None None None ARFGAP3|0.023747491|72.32%
View combined sample_66.variant27 22 rs1128013
dbSNP Clinvar
43195147 2030.42 A G PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.49377 None None None None None None ARFGAP3|0.023747491|72.32%

ARHGAP8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs2269543
dbSNP Clinvar
45244930 1106.26 C T PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.36721 0.36720 0.36007 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%
View combined sample_66.variant27 22 rs8881
dbSNP Clinvar
45258457 1173.16 A G PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.04832 0.04832 0.10165 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%
View combined sample_66.variant27 22 rs2071762
dbSNP Clinvar
45258324 2479.26 C T PASS 0/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.22504 0.22500 0.14178 0.40 0.02 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%

ARSA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs2071421
dbSNP Clinvar
51064416 1550.31 T C PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.22484 0.22480 0.18228 0.28 0.01 None None None None None None ARSA|0.046995067|63.58%
View combined sample_66.variant27 22 rs6151412
dbSNP Clinvar
51065600 2842.28 G A PASS 0/1 245 SYNONYMOUS_CODING LOW None 0.04692 0.04692 0.06082 None None None None None None ARSA|0.046995067|63.58%
View combined sample_66.variant27 22 rs743616
dbSNP Clinvar
51064039 9775.43 G C PASS 0/1 223 NON_SYNONYMOUS_CODING MODERATE None 0.40555 0.40560 0.48408 0.42 0.00 None None None None None None ARSA|0.046995067|63.58%
View combined sample_66.variant27 22 rs6151428
dbSNP Clinvar
51063610 1729.67 C T PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.04692 0.04692 0.05502 0.45 0.00 None None None None None None ARSA|0.046995067|63.58%

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 combined sample_66.variant27 22 rs2073747
dbSNP Clinvar
19969075 4980.91 A G PASS 1/1 166 SYNONYMOUS_CODING LOW None 0.72145 0.72140 0.19203 None None None None None None ARVCF|0.083030294|54.56%
View combined sample_66.variant27 22 rs165815
dbSNP Clinvar
19959473 7357.32 C T PASS 0/1 289 NON_SYNONYMOUS_CODING MODERATE None 0.61681 0.61680 0.26496 1.00 0.00 None None None None None None ARVCF|0.083030294|54.56%

ASCC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs34833047
dbSNP Clinvar
30197031 752.86 T C PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.00240 0.00730 0.00 1.00 None None None None None None ASCC2|0.130819121|45.77%

BAIAP2L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs4820313
dbSNP Clinvar
38506509 5311.0 A G PASS 1/1 180 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None BAIAP2L2|0.045525826|64.05%

BCL2L13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs4488761
dbSNP Clinvar
18209613 4658.83 A G PASS 0/1 174 SYNONYMOUS_CODING LOW None 0.66594 0.66590 0.44756 None None None None None None BCL2L13|0.039355581|65.99%
View combined sample_66.variant27 22 rs9306198
dbSNP Clinvar
18209920 4074.92 C T PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.05132 0.05132 0.09426 0.10 0.01 None None None None None None BCL2L13|0.039355581|65.99%

BCR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs140504
dbSNP Clinvar
23627369 1601.8 A G PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.79373 0.79370 0.12264 1.00 0.00 None None None None None None BCR|0.805888971|5.65%
View combined sample_66.variant27 22 rs2229038
dbSNP Clinvar
23634790 1967.76 G A PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.00260 0.00260 0.00523 0.09 0.75 None None None None None None BCR|0.805888971|5.65%
View combined sample_66.variant27 22 rs2227939
dbSNP Clinvar
23631801 782.72 T C PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.32268 0.32270 0.36883 None None None None None None BCR|0.805888971|5.65%

BPIFC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs5998478
dbSNP Clinvar
32811952 1037.6 A G PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.62081 0.62080 0.36945 1.00 0.00 None None None None None None BPIFC|0.039473347|65.93%

C1QTNF6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs7290488
dbSNP Clinvar
37581383 1047.71 C T PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.07867 0.07867 0.14493 0.09 0.39 None None None None None None C1QTNF6|0.040924441|65.44%
View combined sample_66.variant27 22 rs11089827
dbSNP Clinvar
37580442 630.63 A T PASS 0/1 105 None None None 0.36442 0.36440 0.00 None None None None None None C1QTNF6|0.040924441|65.44%

C22orf15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs2298375
dbSNP Clinvar
24106448 1799.97 G A PASS 0/1 163 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.07668 0.07668 0.08673 None None None None None None C22orf15|0.003023452|88.6%

C22orf23

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs139859
dbSNP Clinvar
38341134 5957.08 T C PASS 1/1 184 SYNONYMOUS_CODING LOW None 0.78135 0.78130 0.25258 None None None None None None C22orf23|0.032233114|68.5%

C22orf26

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs12159707
dbSNP Clinvar
46449891 2758.43 G A,C PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.04832 0.21550 0.34472 0.31 0.00 None None None None None None PRR34|0.005256107|85.48%

C22orf31

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs6005977
dbSNP Clinvar
29456733 2786.2 T C PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.48383 0.48380 0.39643 None None None None None None C22orf31|0.139645339|44.46%

C22orf34

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs916362
dbSNP Clinvar
50017234 4860.26 A G PASS 0/1 207 SYNONYMOUS_CODING LOW None 0.60324 0.60320 None None None None None None C22orf34|0.000859985|96.29%
View combined sample_66.variant27 22 rs1016809
dbSNP Clinvar
49834747 10223.0 C T PASS 0/1 392 None None None 0.49940 0.49940 0.00 None None None None None None C22orf34|0.000859985|96.29%
View combined sample_66.variant27 22 rs2011097
dbSNP Clinvar
50018069 7882.88 A G PASS 0/1 242 NON_SYNONYMOUS_CODING MODERATE None 0.64577 0.64580 0.11 0.00 None None None None None None C22orf34|0.000859985|96.29%
View combined sample_66.variant27 22 rs763128
dbSNP Clinvar
50018045 7741.6 G A PASS 0/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.63718 0.63720 1.00 0.00 None None None None None None C22orf34|0.000859985|96.29%

C22orf42

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs45494991
dbSNP Clinvar
32545762 329.73 C T PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.02316 0.02316 0.04851 None None None None None None C22orf42|0.000624238|97.75%
View combined sample_66.variant27 22 rs12160688
dbSNP Clinvar
32554996 3542.36 C T PASS 0/1 176 SYNONYMOUS_CODING LOW None 0.05312 0.05312 0.07312 None None None None None None C22orf42|0.000624238|97.75%
View combined sample_66.variant27 22 rs5998267
dbSNP Clinvar
32554985 4746.04 A G PASS 0/1 170 NON_SYNONYMOUS_CODING MODERATE None 0.58247 0.58250 0.42511 0.92 0.00 None None None None None None C22orf42|0.000624238|97.75%

C22orf46

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs739134
dbSNP Clinvar
42089623 2420.38 T C PASS 1/1 201 NON_SYNONYMOUS_CODING MODERATE None 0.79573 0.79570 0.16623 0.10 0.93 None None None None None None C22orf46|0.003869223|87.2%

CABIN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs762273
dbSNP Clinvar
24459438 3155.37 T C PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.93231 0.93230 0.04475 None None None None None None CABIN1|0.222656185|34.11%
View combined sample_66.variant27 22 rs147391076
dbSNP Clinvar
24483459 1710.13 G A PASS 0/1 137 SYNONYMOUS_CODING LOW None 0.00160 0.00160 0.00354 None None None None None None CABIN1|0.222656185|34.11%
View combined sample_66.variant27 22 rs148220023
dbSNP Clinvar
24561534 1472.4 G A PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.00285 None None None None None None CABIN1|0.222656185|34.11%

CACNA1I

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs136852
dbSNP Clinvar
40057273 3240.6 T C PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.73682 0.73680 0.39199 None None None None None None CACNA1I|0.07260748|56.88%
View combined sample_66.variant27 22 rs5757761
dbSNP Clinvar
40054948 7473.99 T C PASS 1/1 277 SYNONYMOUS_CODING LOW None 0.74840 0.74840 0.37357 None None None None None None CACNA1I|0.07260748|56.88%
View combined sample_66.variant27 22 rs136853
dbSNP Clinvar
40058186 3342.63 A G PASS 1/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.73682 0.73680 0.35893 0.52 0.00 None None None None None None CACNA1I|0.07260748|56.88%
View combined sample_66.variant27 22 rs3747178
dbSNP Clinvar
39966856 2109.99 C T PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.32887 0.32890 0.23073 None None None None None None CACNA1I|0.07260748|56.88%
View combined sample_66.variant27 22 rs2294369
dbSNP Clinvar
40075400 467.54 G A PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.10743 0.10740 0.30 0.96 None None None None None None CACNA1I|0.07260748|56.88%

CARD10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs113275238,rs60611523
dbSNP Clinvar
37906308 3526.45 GC... G,... PASS 0/1 166 FRAME_SHIFT HIGH None 0.01777 0.30970 None None None None None None CARD10|0.081670514|54.84%

CBY1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs3747174
dbSNP Clinvar
39069181 1403.3 T C PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.28574 0.28570 0.29164 None None None None None None CBY1|0.161401363|41.36%

CCDC116

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs861854
dbSNP Clinvar
21988524 1779.91 C T PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.10064 0.10060 0.16269 0.01 0.18 None None None None None None CCDC116|0.001199435|94.42%
View combined sample_66.variant27 22 rs861852
dbSNP Clinvar
21991072 831.45 T C PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.29752 0.29750 0.32531 0.84 0.00 None None None None None None CCDC116|0.001199435|94.42%
View combined sample_66.variant27 22 rs861853
dbSNP Clinvar
21988602 3470.6 C T PASS 0/1 258 NON_SYNONYMOUS_CODING MODERATE None 0.13419 0.13420 0.19537 0.00 1.00 None None None None None None CCDC116|0.001199435|94.42%

CCDC157

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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_66.variant27 22 rs2286442
dbSNP Clinvar
30772686 1660.28 C T PASS 1/1 171 SYNONYMOUS_CODING LOW None 0.12780 0.12780 0.08717 None None None None None None CCDC157|0.031379719|68.85%