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Genes:
A4GALT, ACO2, ADM2, ADORA2A, AIFM3, ALG12, AP1B1, APOBEC3A, APOBEC3B, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, ARFGAP3, ARHGAP8, ARSA, ARVCF, ATF4, ATP5L2, BCL2L13, BCR, BID, BPIFC, BRD1, C1QTNF6, C22orf15, C22orf23, C22orf24, C22orf31, C22orf42, C22orf43, C22orf46, CABIN1, CACNA1I, CARD10, CCDC116, CCDC157, CCT8L2, CDC42EP1, CDPF1, CECR1, CECR2, CELSR1, CENPM, CHADL, CLTCL1, COMT, CPT1B, CRELD2, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYP2D6, CYTH4, DEPDC5, DERL3, DGCR6, EFCAB6, EIF3L, EIF4ENIF1, ELFN2, FAM118A, FAM211B, FAM227A, FAM83F, FBLN1, FBXO7, FOXRED2, GAB4, GCAT, GGT5, GGTLC2, GTSE1, HDAC10, HIRA, HPS4, IFT27, IGLL1, IGLL5, IL17RA, IL17REL, IL2RB, ISX, KCNJ4, KDELR3, KIAA0930, KIAA1644, KIAA1671, KLHDC7B, KLHL22, L3MBTL2, LARGE, LIMK2, LMF2, LRP5L, LZTR1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MEI1, MGAT3, MICAL3, MICALL1, MKL1, MMP11, MN1, MORC2, MOV10L1, MPPED1, MRPL40, MTFP1, MTMR3, MYO18B, NCAPH2, NCF4, NDUFA6, NEFH, NFAM1, OSBP2, P2RX6, PACSIN2, PARVB, PARVG, PATZ1, PHF21B, PI4KA, PIK3IP1, PIM3, PISD, PIWIL3, PLA2G3, PLA2G6, PLXNB2, PNPLA3, PNPLA5, PPM1F, PPP6R2, PRAME, PRODH, PRR5, RAB36, RAC2, RANGAP1, RFPL1, RFPL2, RFPL3, RGL4, RHBDD3, RIBC2, RNF215, RPL3, RRP7A, RTDR1, SAMM50, SBF1, SCO2, SCUBE1, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELO, SERHL2, SERPIND1, SEZ6L, SF3A1, SFI1, SH3BP1, SHANK3, SLC16A8, SLC2A11, SLC35E4, SLC7A4, SMC1B, SMTN, SOX10, SPECC1L, SREBF2, SRRD, SSTR3, SUN2, SYCE3, SYN3, SYNGR1, TANGO2, TBC1D10A, TBC1D22A, TBX1, TCN2, TFIP11, THAP7, THOC5, TIMP3, TMPRSS6, TNRC6B, TOB2, TOM1, TPST2, TRABD, TRIOBP, TRMU, TSPO, TSSK2, TTC28, TTC38, TTLL1, TTLL12, TUBA8, TUBGCP6, TXNRD2, TYMP, UPK3A, UQCR10, VPREB1, WBP2NL, XKR3, YDJC, ZC3H7B, ZNF280A, ZNF280B, ZNF74,

Genes at Omim

A4GALT, ACO2, ALG12, APOL1, APOL2, APOL4, ARSA, BCR, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYP2D6, DEPDC5, FBLN1, FBXO7, HPS4, IFT27, IGLL1, IL17RA, LARGE, LZTR1, MCM5, MKL1, MN1, MORC2, MYO18B, NCF4, NDUFA6, NEFH, PI4KA, PLA2G6, PRODH, RAC2, SBF1, SCO2, SHANK3, SOX10, SPECC1L, TANGO2, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TRMU, TUBA8, TUBGCP6, TXNRD2, TYMP,
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)
ALG12 Congenital disorder of glycosylation, type Ig, 607143 (3)
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)
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)
FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
FBXO7 Parkinson disease 15, autosomal recessive, 260300 (3)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
IFT27 ?Bardet-Biedl syndrome 19, 615996 (3)
IGLL1 Agammaglobulinemia 2, 613500 (3)
IL17RA Immunodeficiency 51, 613953 (3)
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
LZTR1 {Schwannomatosis-2, susceptibility to}, 615670 (3)
Noonan syndrome 10, 616564 (3)
Noonan syndrome 2, 605275 (3)
MCM5 ?Meier-Gorlin syndrome 8, 617564 (3)
MKL1 Megakaryoblastic leukemia, acute (3)
MN1 Meningioma, 607174 (3)
MORC2 Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3)
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
NCF4 ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NDUFA6 Mitochondrial complex I deficiency, nuclear type 33, 618253 (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)
RAC2 Neutrophil immunodeficiency syndrome, 608203 (3)
SBF1 Charcot-Marie-Tooth disease, type 4B3, 615284 (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)
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)
TANGO2 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (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)
TIMP3 Sorsby fundus dystrophy, 136900 (3)
TMPRSS6 Iron-refractory iron deficiency anemia, 206200 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TRMU Liver failure, transient infantile, 613070 (3)
{Deafness, mitochondrial, modifier of}, 580000 (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)

Genes at Clinical Genomics Database

A4GALT, ACO2, ALG12, ARSA, BCR, CECR1, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYP2D6, DEPDC5, FBLN1, FBXO7, HPS4, IFT27, IGLL1, IL17RA, LARGE, LZTR1, MN1, MORC2, MYO18B, NCF4, NEFH, PI4KA, PLA2G6, PRODH, RAC2, SBF1, SCO2, SERPIND1, SHANK3, SOX10, SPECC1L, TANGO2, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TRMU, TUBA8, TUBGCP6, TYMP, UPK3A,
A4GALT Blood group, P system
ACO2 Infantile cerebellar-retinal degeneration
Optic atrophy 9
ALG12 Congenital disorder of glycosylation, type Ig
ARSA Metachromatic leukodystrophy
BCR CML treatment, response to
CECR1 Polyarteritis nodosa, childhood-onset (ADA2 deficiency)
Sneddon syndrome
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
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
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LZTR1 Schwannomatosis 2
Noonan syndrome 10
MN1 Meningioma, familial
MORC2 Charcot-Marie-Tooth disease type, axonal, type 2Z
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
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
RAC2 Neutrophil immunodeficiency syndrome
SBF1 Charcot-Marie-Tooth disease, type 4B3
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
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
TANGO2 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN)
TBX1 Conotruncal anomaly face syndrome
Tetralogy of Fallot
TCN2 Transcobalamin II deficiency
TIMP3 Sorsby fundus dystrophy
TMPRSS6 Iron-refractory iron deficiency anemia
TRIOBP Deafness, autosomal recessive 28
TRMU Liver failure, infantile, transient
Reversible infantile respiratory chain deficiency
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

Genes at HGMD

Summary

Number of Variants: 990
Number of Genes: 231

Export to: CSV

A4GALT

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 tsvc_variants_ioncode_0249 22 rs6002904
dbSNP Clinvar
43089055 1005.89 G C PASS 1/1 142 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.34674 None None None None None None A4GALT|0.02220674|73.08%

ACO2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ioncode_0249 22 rs112426969
dbSNP Clinvar
41920885 67.3561 G A PASS 0/1 60 SYNONYMOUS_CODING LOW None None None None None None None ACO2|0.657906877|9.8%
View tsvc_variants_ioncode_0249 22 rs137831
dbSNP Clinvar
41903813 72.9893 A C PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.41833 0.41830 0.25796 None None None None None None ACO2|0.657906877|9.8%
View tsvc_variants_ioncode_0249 22 rs113953699
dbSNP Clinvar
41920912 70.4101 G A PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00008 None None None None None None ACO2|0.657906877|9.8%

ADM2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ioncode_0249 22 rs72438078,rs3840963
dbSNP Clinvar
50921148 132.395 AA... A PASS 0/1 162 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.11761 0.11760 0.07880 None None None None None None ADM2|0.006259599|84.34%

ADORA2A

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 tsvc_variants_ioncode_0249 22 rs5751876
dbSNP Clinvar
24837301 70.9579 T C PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.44229 0.44230 0.48193 None None None None None None ADORA2A|0.246666916|31.87%

AIFM3

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 tsvc_variants_ioncode_0249 22 rs178269
dbSNP Clinvar
21331043 833.221 A T PASS 1/1 116 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None AIFM3|0.183569407|38.59%

ALG12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ioncode_0249 22 rs1321
dbSNP Clinvar
50297435 179.694 T C PASS 0/1 140 None None None 0.40216 0.40220 0.38093 0.04 None None None None None None ALG12|0.005312033|85.41%
View tsvc_variants_ioncode_0249 22 rs8135963
dbSNP Clinvar
50301476 234.76 T C PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.40216 0.40220 0.38336 None None None None None None ALG12|0.005312033|85.41%

AP1B1

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 tsvc_variants_ioncode_0249 22 rs2857465
dbSNP Clinvar
29727886 670.535 T C PASS 1/1 91 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%
View tsvc_variants_ioncode_0249 22 rs2072051
dbSNP Clinvar
29755888 1382.77 T C PASS 1/1 187 SYNONYMOUS_CODING LOW None 0.66893 0.66890 0.35760 None None None None None None AP1B1|0.336808042|25.03%
View tsvc_variants_ioncode_0249 22 rs174765
dbSNP Clinvar
29727866 636.783 C T PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.53195 0.53190 0.48370 None None None None None None AP1B1|0.336808042|25.03%

APOBEC3A

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 tsvc_variants_ioncode_0249 22 rs35994173
dbSNP Clinvar
39357581 509.919 C T PASS 1/1 68 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.24581 0.24580 0.20635 None None None None None None APOBEC3A|0.000261531|99.57%

APOBEC3B

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 tsvc_variants_ioncode_0249 22 rs2076110
dbSNP Clinvar
39381935 366.436 C T PASS 0/1 275 NON_SYNONYMOUS_CODING MODERATE None 0.07548 0.07548 0.09915 0.79 0.11 None None None None None None APOBEC3B|0.000325736|99.32%
View tsvc_variants_ioncode_0249 22 rs35949382
dbSNP Clinvar
39385510 153.656 T C PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.02196 0.02196 0.01907 None None None None None None APOBEC3B|0.000325736|99.32%
View tsvc_variants_ioncode_0249 22 rs5995649
dbSNP Clinvar
39382079 1090.78 C A PASS 1/1 147 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 tsvc_variants_ioncode_0249 22 rs2076111
dbSNP Clinvar
39381999 745.961 T C PASS 1/1 103 SYNONYMOUS_CODING LOW None None None None None None None APOBEC3B|0.000325736|99.32%
View tsvc_variants_ioncode_0249 22 rs2076109
dbSNP Clinvar
39381826 1263.15 A G PASS 1/1 174 NON_SYNONYMOUS_CODING MODERATE None 0.64117 0.64120 0.39427 0.77 0.01 None None None None None None APOBEC3B|0.000325736|99.32%
View tsvc_variants_ioncode_0249 22 rs113972364
dbSNP Clinvar
39380131 110.766 C T PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.02356 0.02356 0.02160 None None None None None None APOBEC3B|0.000325736|99.32%

APOBEC3F

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 tsvc_variants_ioncode_0249 22 rs4821862
dbSNP Clinvar
39441203 261.045 C T PASS 0/1 171 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%

APOBEC3G

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 tsvc_variants_ioncode_0249 22 rs8177832
dbSNP Clinvar
39477566 184.357 A G PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE None 0.14617 0.14620 0.14370 0.32 0.01 None None None None None None APOBEC3G|0.000537592|98.25%

APOBEC3H

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 tsvc_variants_ioncode_0249 22 rs139300
dbSNP Clinvar
39497509 450.33 A G PASS 1/1 64 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%
View tsvc_variants_ioncode_0249 22 rs140936762,rs201177427,rs139292
dbSNP Clinvar
39496322 177.821 TAAC T PASS 0/1 97 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View tsvc_variants_ioncode_0249 22 rs139293
dbSNP Clinvar
39496336 175.509 G T PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.20168 0.20170 0.20898 0.02 0.82 None None None None None None APOBEC3H|0.000715686|97.18%
View tsvc_variants_ioncode_0249 22 rs139294
dbSNP Clinvar
39496412 711.453 G C PASS 1/1 99 SYNONYMOUS_CODING LOW None 0.51478 0.51480 0.43995 None None None None None None APOBEC3H|0.000715686|97.18%
View tsvc_variants_ioncode_0249 22 rs139297
dbSNP Clinvar
39497404 522.901 G C PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.52476 0.52480 0.42050 1.00 0.00 None None None None None None APOBEC3H|0.000715686|97.18%
View tsvc_variants_ioncode_0249 22 rs139298
dbSNP Clinvar
39497452 537.549 A G PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.52975 0.52980 0.42496 1.00 0.01 None None None None None None APOBEC3H|0.000715686|97.18%
View tsvc_variants_ioncode_0249 22 rs139299
dbSNP Clinvar
39497454 533.394 G C PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.52975 0.52980 0.42365 0.04 0.40 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 tsvc_variants_ioncode_0249 22 rs136176
dbSNP Clinvar
36661646 853.507 G A PASS 1/1 122 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 tsvc_variants_ioncode_0249 22 rs60910145
dbSNP Clinvar
36662034 158.657 T G PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.06949 0.06949 0.07559 0.18 0.10 None None None None None None APOL1|0.000329557|99.31%
View tsvc_variants_ioncode_0249 22 rs73885319
dbSNP Clinvar
36661906 291.267 A G PASS 0/1 289 NON_SYNONYMOUS_CODING MODERATE None 0.06969 0.06969 0.07666 1.00 0.00 None None None None None None APOL1|0.000329557|99.31%
View tsvc_variants_ioncode_0249 22 rs136177
dbSNP Clinvar
36661842 1330.49 G A PASS 1/1 185 SYNONYMOUS_CODING LOW None 0.85324 0.85320 0.16023 None None None None None None APOL1|0.000329557|99.31%
View tsvc_variants_ioncode_0249 22 rs73885316
dbSNP Clinvar
36661674 145.963 C A PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.00619 0.00619 0.00977 1.00 0.43 None None None None None None APOL1|0.000329557|99.31%
View tsvc_variants_ioncode_0249 22 rs2239785
dbSNP Clinvar
36661330 69.9347 G A PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.67812 0.67810 0.34715 0.16 0.78 None None None None None None APOL1|0.000329557|99.31%
View tsvc_variants_ioncode_0249 22 rs136174
dbSNP Clinvar
36661536 1083.22 C A PASS 1/1 146 SYNONYMOUS_CODING LOW None 0.86422 0.86420 0.15324 None None None None None None APOL1|0.000329557|99.31%
View tsvc_variants_ioncode_0249 22 rs136175
dbSNP Clinvar
36661566 1948.48 G A PASS 1/1 262 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%

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 tsvc_variants_ioncode_0249 22 rs7285167
dbSNP Clinvar
36623920 94.0632 G A PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.15116 0.15120 0.14476 0.09 0.01 None None None None None None APOL2|0.000262519|99.56%
View tsvc_variants_ioncode_0249 22 rs132760
dbSNP Clinvar
36623731 682.834 T C PASS 1/1 92 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.66 0.00 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 tsvc_variants_ioncode_0249 22 rs79419411
dbSNP Clinvar
36556729 361.458 T C PASS 0/1 284 NON_SYNONYMOUS_CODING MODERATE None 0.02596 0.02596 0.02622 0.11 0.00 None None None None None None APOL3|0.000202491|99.75%
View tsvc_variants_ioncode_0249 22 rs11089781
dbSNP Clinvar
36556768 163.122 G A PASS 0/1 154 STOP_GAINED HIGH None 0.06929 0.06929 0.07435 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 tsvc_variants_ioncode_0249 22 rs2007468
dbSNP Clinvar
36591380 619.968 A G PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.70068 0.70070 0.38713 None None None None None None APOL4|0.000586223|97.99%
View tsvc_variants_ioncode_0249 22 rs77639244
dbSNP Clinvar
36591475 67.7879 G A PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.02935 0.02935 0.03314 0.13 0.00 None None None None None None APOL4|0.000586223|97.99%
View tsvc_variants_ioncode_0249 22 rs80587
dbSNP Clinvar
36598049 445.666 C G PASS 1/1 60 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 tsvc_variants_ioncode_0249 22 rs132736
dbSNP Clinvar
36598058 413.435 T C PASS 1/1 59 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 tsvc_variants_ioncode_0249 22 rs2227168
dbSNP Clinvar
36587511 120.73 C T PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.65316 0.65320 0.44114 0.58 0.01 None None None None None None APOL4|0.000586223|97.99%
View tsvc_variants_ioncode_0249 22 rs2227167
dbSNP Clinvar
36587486 110.963 A G PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.64736 0.64740 0.44397 None None None None None None APOL4|0.000586223|97.99%
View tsvc_variants_ioncode_0249 22 rs61730819
dbSNP Clinvar
36587346 259.881 C T PASS 0/1 182 NON_SYNONYMOUS_CODING MODERATE None 0.03115 0.03115 0.03224 0.12 0.00 None None None None None None APOL4|0.000586223|97.99%
View tsvc_variants_ioncode_0249 22 rs6000174
dbSNP Clinvar
36587279 218.691 A G PASS 0/1 180 SYNONYMOUS_CODING LOW None 0.64697 0.64700 0.44084 None None None None None None APOL4|0.000586223|97.99%
View tsvc_variants_ioncode_0249 22 rs6000173
dbSNP Clinvar
36587223 253.294 G T PASS 0/1 187 NON_SYNONYMOUS_CODING MODERATE None 0.64717 0.64720 0.44378 0.00 0.81 None None None None None None APOL4|0.000586223|97.99%
View tsvc_variants_ioncode_0249 22 rs6000172
dbSNP Clinvar
36587202 267.705 G A PASS 0/1 204 NON_SYNONYMOUS_CODING MODERATE None 0.64697 0.64700 0.44227 0.00 0.00 None None None None None None APOL4|0.000586223|97.99%
View tsvc_variants_ioncode_0249 22 rs111781032
dbSNP Clinvar
36587154 178.33 G T PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.02875 0.02875 0.03239 0.25 0.83 None None None None None None APOL4|0.000586223|97.99%
View tsvc_variants_ioncode_0249 22 rs2227169
dbSNP Clinvar
36587952 130.821 C T PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.64257 0.64260 0.44647 None None None None None None APOL4|0.000586223|97.99%
View tsvc_variants_ioncode_0249 22 rs78582347
dbSNP Clinvar
36587886 222.463 C T PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.02875 0.02875 0.03212 0.41 0.01 None None None None None None APOL4|0.000586223|97.99%
View tsvc_variants_ioncode_0249 22 . 36587847 981.096 T TCT PASS 1/1 140 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None APOL4|0.000586223|97.99%
View tsvc_variants_ioncode_0249 22 rs132700
dbSNP Clinvar
36587704 298.614 T C PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE None 0.29812 0.29810 0.31358 0.24 0.00 None None None None None None APOL4|0.000586223|97.99%

APOL5

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 tsvc_variants_ioncode_0249 22 rs75305023,rs398102316
dbSNP Clinvar
36124889 58.2814 GC G PASS 0/1 65 FRAME_SHIFT HIGH None 0.01597 0.01597 0.01326 None None None None None None APOL5|0.000570206|98.07%

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 tsvc_variants_ioncode_0249 22 rs1018448
dbSNP Clinvar
43206950 779.991 A C PASS 1/1 105 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 tsvc_variants_ioncode_0249 22 rs1128013
dbSNP Clinvar
43195147 1089.02 A G PASS 1/1 147 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.49377 None None None None None None ARFGAP3|0.023747491|72.32%
View tsvc_variants_ioncode_0249 22 rs738535
dbSNP Clinvar
43203137 268.651 C T PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.31010 0.31010 0.41727 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 tsvc_variants_ioncode_0249 22 rs2239813
dbSNP Clinvar
45198009 502.068 A G PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.63878 0.63880 0.45510 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%
View tsvc_variants_ioncode_0249 22 rs2071762
dbSNP Clinvar
45258324 227.474 C T PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.22504 0.22500 0.14178 0.39 0.03 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 tsvc_variants_ioncode_0249 22 rs2071421
dbSNP Clinvar
51064416 263.507 T C PASS 0/1 219 NON_SYNONYMOUS_CODING MODERATE None 0.22484 0.22480 0.18228 0.28 0.03 None None None None None None ARSA|0.046995067|63.58%
View tsvc_variants_ioncode_0249 22 rs743616
dbSNP Clinvar
51064039 132.668 G C PASS 0/1 122 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%

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 tsvc_variants_ioncode_0249 22 rs165815
dbSNP Clinvar
19959473 66.2349 C T PASS 0/1 81 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%
View tsvc_variants_ioncode_0249 22 rs2073747
dbSNP Clinvar
19969075 1119.32 A G PASS 1/1 150 SYNONYMOUS_CODING LOW None 0.72145 0.72140 0.19203 None None None None None None ARVCF|0.083030294|54.56%
View tsvc_variants_ioncode_0249 22 rs2073748
dbSNP Clinvar
19968971 182.712 G A PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.36002 0.36000 0.34425 0.07 0.00 None None None None None None ARVCF|0.083030294|54.56%
View tsvc_variants_ioncode_0249 22 rs61736862
dbSNP Clinvar
19967567 81.0563 G A PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.02216 0.02216 0.02071 None None None None None None ARVCF|0.083030294|54.56%
View tsvc_variants_ioncode_0249 22 rs1058399
dbSNP Clinvar
19967543 125.596 G A PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.05911 0.05911 0.06245 None None None None None None ARVCF|0.083030294|54.56%

ATF4

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 tsvc_variants_ioncode_0249 22 rs4894
dbSNP Clinvar
39917515 89.2595 A C PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.27376 0.27380 0.30225 0.25 0.00 None None None None None None ATF4|0.396217257|21.01%

ATP5L2

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 tsvc_variants_ioncode_0249 22 rs6519327
dbSNP Clinvar
43036245 122.6 G A PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.27276 0.27280 0.13820 None None None None None None CYB5R3|0.035531313|67.3%,ATP5L2|0.004011842|87.02%

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 tsvc_variants_ioncode_0249 22 rs4488761
dbSNP Clinvar
18209613 447.662 A G PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.66594 0.66590 0.44756 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 tsvc_variants_ioncode_0249 22 rs140504
dbSNP Clinvar
23627369 1079.32 A G PASS 1/1 145 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 tsvc_variants_ioncode_0249 22 rs2227939
dbSNP Clinvar
23631801 357.349 T C PASS 0/1 160 SYNONYMOUS_CODING LOW None 0.32268 0.32270 0.36883 None None None None None None BCR|0.805888971|5.65%

BID

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 tsvc_variants_ioncode_0249 22 rs2072392
dbSNP Clinvar
18226612 163.698 A G PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.04992 0.04992 0.04298 None None None None None None BID|0.003014835|88.62%
View tsvc_variants_ioncode_0249 22 rs8190315
dbSNP Clinvar
18226764 87.1874 T C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.04832 0.04832 0.03906 1.00 0.00 None None None None None None BID|0.003014835|88.62%

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 tsvc_variants_ioncode_0249 22 rs28733723
dbSNP Clinvar
32843312 92.4843 G A PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.02935 0.02935 0.02999 None None None None None None BPIFC|0.039473347|65.93%

BRD1

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 tsvc_variants_ioncode_0249 22 rs2239848
dbSNP Clinvar
50216754 136.624 G A PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.14117 0.14120 0.10042 None None None None None None BRD1|0.086962304|53.78%

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 tsvc_variants_ioncode_0249 22 rs229527
dbSNP Clinvar
37581485 122.721 C A PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.45008 0.45010 0.39636 0.12 0.01 None None None None None None C1QTNF6|0.040924441|65.44%
View tsvc_variants_ioncode_0249 22 rs229519
dbSNP Clinvar
37578579 147.453 C T PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.46466 0.46470 0.36852 None None None None None None C1QTNF6|0.040924441|65.44%
View tsvc_variants_ioncode_0249 22 rs229526
dbSNP Clinvar
37581422 750.047 G C PASS 1/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.18910 0.18910 0.23743 0.07 0.48 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 tsvc_variants_ioncode_0249 22 rs2298375
dbSNP Clinvar
24106448 352.963 G A PASS 0/1 202 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 tsvc_variants_ioncode_0249 22 rs139859
dbSNP Clinvar
38341134 447.925 T C PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.78135 0.78130 0.25258 None None None None None None C22orf23|0.032233114|68.5%

C22orf24

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 tsvc_variants_ioncode_0249 22 rs1984388
dbSNP Clinvar
32334021 197.901 T A PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.24760 0.24760 0.18459 1.00 0.00 None None None None None None C22orf24|0.001025322|95.27%

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 tsvc_variants_ioncode_0249 22 rs9625679
dbSNP Clinvar
29456699 827.401 A G PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.13738 0.13740 0.08542 0.07 0.01 None None None None None None C22orf31|0.139645339|44.46%

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 tsvc_variants_ioncode_0249 22 rs5998267
dbSNP Clinvar
32554985 896.434 A G PASS 1/1 120 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%

C22orf43

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 tsvc_variants_ioncode_0249 22 rs10564183,rs142649853,rs3831377
dbSNP Clinvar
23964282 102.651 GCAT G PASS 0/1 66 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.12400 0.12400 None None None None None None DRICH1|0.000706827|97.22%
View tsvc_variants_ioncode_0249 22 rs771429817
dbSNP Clinvar
23964306 103.337 C G PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.72 0.01 None None None None None None DRICH1|0.000706827|97.22%

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 tsvc_variants_ioncode_0249 22 rs739134
dbSNP Clinvar
42089623 2078.96 T C PASS 1/1 280 NON_SYNONYMOUS_CODING MODERATE None 0.79573 0.79570 0.16623 0.10 0.01 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 tsvc_variants_ioncode_0249 22 rs62642523
dbSNP Clinvar
24463123 124.7 T G PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.03814 0.03814 0.03145 None None None None None None CABIN1|0.222656185|34.11%
View tsvc_variants_ioncode_0249 22 rs115707715
dbSNP Clinvar
24573593 116.432 C T PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.03115 0.03115 0.03045 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 tsvc_variants_ioncode_0249 22 rs136853
dbSNP Clinvar
40058186 1017.95 A G PASS 1/1 141 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 tsvc_variants_ioncode_0249 22 rs5757761
dbSNP Clinvar
40054948 598.959 T C PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.74840 0.74840 0.37357 None None None None None None CACNA1I|0.07260748|56.88%
View tsvc_variants_ioncode_0249 22 rs136852
dbSNP Clinvar
40057273 1305.93 T C PASS 1/1 180 SYNONYMOUS_CODING LOW None 0.73682 0.73680 0.39199 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 tsvc_variants_ioncode_0249 22 rs9610775
dbSNP Clinvar
37906262 94.3834 C T PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.21665 0.21670 0.20074 0.17 0.49 None None None None None None CARD10|0.081670514|54.84%
View tsvc_variants_ioncode_0249 22 rs113275238,rs60611523
dbSNP Clinvar
37906308 104.656 GC... G PASS 0/1 85 CODON_DELETION MODERATE None 0.01777 0.30970 None None None None None None CARD10|0.081670514|54.84%
View tsvc_variants_ioncode_0249 22 rs7287804
dbSNP Clinvar
37915100 74.6198 A G PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.11262 0.11260 0.11870 None None None None None None CARD10|0.081670514|54.84%
View tsvc_variants_ioncode_0249 22 rs79861380
dbSNP Clinvar
37915145 69.9824 C T PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.05891 0.05891 0.07422 None None None None None None CARD10|0.081670514|54.84%

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 tsvc_variants_ioncode_0249 22 rs861852
dbSNP Clinvar
21991072 68.8246 T C PASS 0/1 50 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 tsvc_variants_ioncode_0249 22 rs2236642
dbSNP Clinvar
21989621 62.2923 C T PASS 0/1 66 None None None 0.09285 0.09285 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 tsvc_variants_ioncode_0249 22 rs740223
dbSNP Clinvar
30762140 169.226 G A PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.15915 0.15910 0.22074 0.00 1.00 None None None None None None CCDC157|0.031379719|68.85%