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+ Genes 268

Genes:
AC002472.13, AC006547.14, AC006946.15, AC008132.13, ACO2, ACR, ADM2, ADORA2A, AIFM3, ALG12, AP1B1, APOBEC3B, APOBEC3F, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, BID, BPIFC, C1QTNF6, C22orf23, C22orf24, C22orf26, C22orf31, C22orf34, C22orf42, C22orf43, C22orf46, CABIN1, CACNA1I, CARD10, CBY1, CCDC116, CCDC157, CCT8L2, CDC42EP1, CECR1, CECR2, CECR5, CECR6, CELSR1, CENPM, CHCHD10, CLDN5, CLTCL1, COMT, CPT1B, CRYBA4, CSF2RB, CTA-299D3.8, CYB5R3, CYP2D6, CYP2D7P, CYTH4, DEPDC5, DERL3, DGCR2, DNAL4, EFCAB6, EIF3D, EIF4ENIF1, ELFN2, EP300, FAM118A, FAM19A5, FAM211B, FAM230A, FBLN1, FBXO7, FLJ27365, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGT1, GGT2, GGTLC2, GNAZ, GRAMD4, GSTT2, GTSE1, HDAC10, HIC2, HMGXB4, HMOX1, HPS4, IGLC3, IGLJ3, IGLJ5, IGLJ7, IGLV1-47, IGLV10-54, IGLV11-55, IGLV2-23, IGLV3-25, IGLV4-60, IGLV4-69, IGLV5-37, IGLV5-45, IGLV5-48, IGLV6-57, IGLV7-46, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1644, KIAA1671, KLHDC7B, KREMEN1, L3MBTL2, LARGE, LIMK2, LL22NC03-75H12.2, LMF2, LRP5L, LZTR1, MAPK11, MAPK12, MAPK8IP2, MB, MCHR1, MCM5, MED15, MEI1, MICAL3, MIOX, MKL1, MMP11, MN1, MOV10L1, MPPED1, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, NPTXR, ODF3B, OSBP2, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PEX26, PHF21B, PI4KA, PIK3IP1, PIM3, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PNPLA3, PNPLA5, POLDIP3, POM121L7, POTEH, PPIL2, PPM1F, PPP6R2, PRAME, PRODH, PRR5, RAB36, RANGAP1, RASD2, RBFOX2, RFPL1, RFPL2, RFPL3, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RNF215, RP1-32I10.10, RPL3, RRP7A, RTDR1, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SEC14L2, SEC14L3, SEC14L6, SELO, SERPIND1, SEZ6L, SFI1, SHANK3, SLC16A8, SLC35E4, SLC7A4, SMARCB1, SMC1B, SMTN, SNAP29, SNRPD3, SOX10, SPECC1L, SRRD, SUN2, SUSD2, SYNGR1, TBX1, TCF20, TCN2, TEX33, TFIP11, THAP7, THOC5, TIMP3, TMPRSS6, TNRC6B, TOB2, TOP3B, TPST2, TRIOBP, TSPO, TTC38, TTLL1, TTLL12, TTLL8, TUBGCP6, TXNRD2, TYMP, UPB1, UPK3A, UQCR10, USP41, WBP2NL, XBP1, XKR3, XRCC6, YDJC, ZBED4, ZNF280A, ZNF280B, ZNF70, ZNRF3,

+ Genes associated with diseases 62

Genes at Omim

ACO2, ACR, ALG12, APOL1, APOL2, APOL4, ARSA, ATP6V1E1, ATXN10, BCR, CHCHD10, COMT, CRYBA4, CSF2RB, CYB5R3, CYP2D6, DEPDC5, DGCR2, DNAL4, EP300, FBLN1, FBXO7, GGT1, GGT2, HMOX1, HPS4, IL17RA, KCTD17, KREMEN1, LARGE, LZTR1, MCM5, MKL1, MN1, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, PEX26, PI4KA, PLA2G6, PRODH, SBF1, SCARF2, SCO2, SHANK3, SMARCB1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TUBGCP6, TXNRD2, TYMP, UPB1, XBP1,
ACO2 Infantile cerebellar-retinal degeneration, 614559 (3)
?Optic atrophy 9, 616289 (3)
ACR ?Male infertility due to acrosin deficiency (2)
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)
ATP6V1E1 Cutis laxa, autosomal recessive, type IIC, 617402 (3)
ATXN10 Spinocerebellar ataxia 10, 603516 (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)
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYB5R3 Methemoglobinemia, type I, 250800 (3)
Methemoglobinemia, type II, 250800 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (3)
DGCR2 DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
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)
HMOX1 Heme oxygenase-1 deficiency, 614034 (3)
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
IL17RA Immunodeficiency 51, 613953 (3)
KCTD17 Dystonia 26, myoclonic, 616398 (3)
KREMEN1 Ectodermal dysplasia 13, hair/tooth type, 617392 (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)
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)
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)
PEX26 Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3)
Peroxisome biogenesis disorder 7B, 614873 (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)
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)
TIMP3 Sorsby fundus dystrophy, 136900 (3)
TMPRSS6 Iron-refractory iron deficiency anemia, 206200 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (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)
UPB1 Beta-ureidopropionase deficiency, 613161 (3)
XBP1 {Major affective disorder-7, susceptibility to}, 612371 (3)

Genes at Clinical Genomics Database

ACO2, ALG12, ARSA, ATXN10, BCR, CECR1, CHCHD10, COMT, CRYBA4, CSF2RB, CYB5R3, CYP2D6, DEPDC5, DGCR2, DNAL4, EP300, FBLN1, FBXO7, HMOX1, HPS4, IL17RA, KCTD17, LARGE, LZTR1, MN1, MYH9, MYO18B, NAGA, NCF4, NEFH, PEX26, PI4KA, PLA2G6, PRODH, SBF1, SCARF2, SCO2, SERPIND1, SHANK3, SMARCB1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TUBGCP6, TYMP, UPB1, UPK3A,
ACO2 Infantile cerebellar-retinal degeneration
Optic atrophy 9
ALG12 Congenital disorder of glycosylation, type Ig
ARSA Metachromatic leukodystrophy
ATXN10 Spinocerebellar ataxia 10
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
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5
CYB5R3 Methemoglobinemia due to methemoglobin reductase deficiency
CYP2D6 Drug metabolism, CYP2CD6-related
DEPDC5 Epilepsy, familial focal, with variable foci
DGCR2 Schizophrenia
DNAL4 Mirror movements 3
EP300 Rubinstein-Taybi syndrome 2
FBLN1 Synpolydactyly 2
FBXO7 Parkinson disease 15, autosomal recessive
HMOX1 Heme oxygenase 1 deficiency
HPS4 Hermansky-Pudlak syndrome 4
IL17RA Candiasis, familial, 5
KCTD17 Dystonia 26, myoclonic
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
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
PEX26 Peroxisome biogenesis factor disorder, 26
Adrenoleukodystrophy, neonatal
Refsum disease, infantile
Zellweger syndrome
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
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
TIMP3 Sorsby fundus dystrophy
TMPRSS6 Iron-refractory iron deficiency anemia
TRIOBP Deafness, autosomal recessive 28
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive 1
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UPB1 Beta-ureidopropionase deficiency
UPK3A Renal/urogenital adysplasia

Genes at HGMD

Summary

Number of Variants: 3968
Number of Genes: 268

Export to: CSV

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_51.variant15 22 rs10559800,rs146848976
dbSNP Clinvar 		30234192 2254.17 TGCC T,... PASS 5/4 67 None None None None None None None None None ASCC2|0.130819121|45.77%
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_51.variant15 22 rs71679890,rs529542864
dbSNP Clinvar 		31971071 413.64 CG... CG... PASS 4/4 14 None None None None None None None None None SFI1|0.009882452|80.95%
View combined sample_51.variant15 22 . 30223746 877.45 GA... GA... PASS 4/4 12 None None None None None None None None None ASCC2|0.130819121|45.77%
View combined sample_51.variant15 22 rs397836314
dbSNP Clinvar 		39127015 428.59 TTG TT... PASS 4/4 12 None None None None None None None None None GTPBP1|0.222113771|34.19%
View combined sample_51.variant15 22 rs796066126
dbSNP Clinvar 		26710061 244.56 CAG CA... PASS 4/2 11 None None None None None None None None None SEZ6L|0.037502829|66.63%
View combined sample_51.variant15 22 rs752105912
dbSNP Clinvar 		36236678 53.73 CGT C,... PASS 4/2 14 None None None None None None None None None RBFOX2|0.867467871|4.29%
View combined sample_51.variant15 22 . 29939336 109.77 CA... CA... PASS 3/3 16 None None None None None None None None None THOC5|0.438186947|18.76%
View combined sample_51.variant15 22 rs151165173,rs58327765
dbSNP Clinvar 		30863234 501.49 A AC... PASS 3/3 5 None None None None None None None None None SEC14L3|0.147250694|43.43%
View combined sample_51.variant15 22 rs999924356
dbSNP Clinvar 		39080808 842.16 ATTT A,... PASS 3/2 85 None None None None None None None None None TOMM22|0.341303992|24.76%
View combined sample_51.variant15 22 rs768960142
dbSNP Clinvar 		29313256 306.74 AA... AA... PASS 3/1 14 None None None None None None None None None ZNRF3|0.247803411|31.75%
View combined sample_51.variant15 22 . 37469386 373.88 AG... AG... PASS 3/1 63 None None None None None None None None None TMPRSS6|0.081924937|54.76%
View combined sample_51.variant15 22 rs375425509
dbSNP Clinvar 		20098887 360.26 CT C,... PASS 2/3 34 None None None 0.13059 0.13060 None None None None None None DGCR8|0.831530192|5.07%
View combined sample_51.variant15 22 . 38343509 223.6 CTTTT CT... PASS 2/2 14 None None None 0.38454 None None None None None None C22orf23|0.032233114|68.5%
View combined sample_51.variant15 22 . 38979176 48.67 CT C,... PASS 2/2 3 None None None None None None None None None FAM227A|0.0020869|90.76%
View combined sample_51.variant15 22 rs567797761,rs3747262
dbSNP Clinvar 		47134147 1929.41 G T,... PASS 2/2 34 None None None 0.21865 0.65990 None None None None None None CERK|0.015511577|76.79%
View combined sample_51.variant15 22 rs776548387
dbSNP Clinvar 		39882149 656.72 ATTT AT... PASS 2/2 18 None None None None None None None None None MGAT3|0.081152391|54.95%
View combined sample_51.variant15 22 rs147349026
dbSNP Clinvar 		33265317 285.83 TT... T,... PASS 2/2 4 None None None None None None None None None SYN3|0.336782682|25.03%
View combined sample_51.variant15 22 rs138728
dbSNP Clinvar 		35696077 2170.55 G C,A PASS 2/1 82 None None None 0.09605 0.09605 None None None None None None TOM1|0.117632845|47.82%
View combined sample_51.variant15 22 rs779888925
dbSNP Clinvar 		32813176 118.9 CTTT CT... PASS 2/1 15 None None None None None None None None None BPIFC|0.039473347|65.93%
View combined sample_51.variant15 22 rs780784884,rs559988888
dbSNP Clinvar 		25153810 72.03 GAAA GA... PASS 2/1 18 None None None 0.04433 None None None None None None PIWIL3|0.00067048|97.43%
View combined sample_51.variant15 22 rs552477617,rs71750910
dbSNP Clinvar 		50654064 222.96 TG... TG... PASS 2/1 18 None None None 0.99002 0.99000 None None None None None None None
View combined sample_51.variant15 22 . 50682046 132.32 CA CA... PASS 2/1 17 None None None None None None None None None TUBGCP6|0.014651762|77.41%
View combined sample_51.variant15 22 rs796777658,rs5844908
dbSNP Clinvar 		30843931 262.25 G GT... PASS 2/1 36 None None None None None None None None None None
View combined sample_51.variant15 22 rs9617014
dbSNP Clinvar 		50901259 3483.72 G T,C,A PASS 2/1 126 None None None 0.00339 0.00340 0.44766 None None None None None None SBF1|0.055734272|61.01%
View combined sample_51.variant15 22 rs10688354,rs61228886
dbSNP Clinvar 		40731768 8308.24 G GA... PASS 1/3 175 None None None 0.96546 0.96550 None None None None None None TNRC6B|0.807696268|5.62%
View combined sample_51.variant15 22 rs56147525,rs548467551,rs59298528
dbSNP Clinvar 		36744886 694.5 GC G,CC PASS 1/2 33 None None None None None None None None None MYH9|0.668562251|9.42%
View combined sample_51.variant15 22 rs796846108
dbSNP Clinvar 		22901979 1952.22 CGG CG... PASS 1/2 38 None None None 0.00240 0.00240 None None None None None None None
View combined sample_51.variant15 22 . 43036356 103.64 CT... CT... PASS 1/2 8 None None None None None None None None None CYB5R3|0.035531313|67.3%,ATP5L2|0.004011842|87.02%
View combined sample_51.variant15 22 rs878858922
dbSNP Clinvar 		38169911 859.56 CC... CC... PASS 1/2 50 None None None None None None None None None TRIOBP|0.083019472|54.57%

GALR3
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_51.variant15 22 rs8138029
dbSNP Clinvar 		38220964 2557.42 T C PASS 1/1 107 SYNONYMOUS_CODING LOW None 0.78375 0.78370 0.22843 None None None None None None GALR3|0.07909937|55.36%
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_51.variant15 22 rs2284058
dbSNP Clinvar 		38221658 456.37 A G PASS 1/1 29 None None None 0.78474 0.78470 None None None None None None None
View combined sample_51.variant15 22 rs4820662
dbSNP Clinvar 		26342056 213.26 C T PASS 1/1 13 None None None 0.86222 0.86220 0.06485 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_51.variant15 22 rs2072007
dbSNP Clinvar 		26343805 3703.38 A G PASS 1/1 188 None None None 0.71186 0.71190 0.12506 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_51.variant15 22 rs5750504
dbSNP Clinvar 		38243675 736.96 A T PASS 1/1 32 None None None 0.63858 0.63860 0.42728 None None None None None None ANKRD54|0.171087193|40.16%
View combined sample_51.variant15 22 rs2157472
dbSNP Clinvar 		38251686 2122.24 T C PASS 1/1 114 None None None 0.79113 0.79110 0.26080 None None None None None None EIF3L|0.410141142|20.18%
View combined sample_51.variant15 22 rs5756843
dbSNP Clinvar 		38258810 1887.87 T C PASS 1/1 66 None None None 0.63119 0.63120 None None None None None None EIF3L|0.410141142|20.18%
View combined sample_51.variant15 22 rs2072008
dbSNP Clinvar 		26344024 650.94 C T PASS 1/1 26 None None None 0.64397 0.64400 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_51.variant15 22 rs10600754,rs550756828
dbSNP Clinvar 		26346311 824.43 AT A,ATT PASS 1/1 44 None None None 0.51480 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_51.variant15 22 rs383964
dbSNP Clinvar 		18900669 5051.94 A G PASS 1/1 160 None None None 0.90755 0.90750 0.08459 None None None None None None DGCR6|0.0553658|61.1%,PRODH|0.133392589|45.38%
View combined sample_51.variant15 22 . 38318584 33.49 TTA T PASS 1/1 3 None None None None None None None None None MICALL1|0.039548574|65.89%

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_51.variant15 22 rs139859
dbSNP Clinvar 		38341134 5957.08 T C PASS 1/1 194 SYNONYMOUS_CODING LOW None 0.78135 0.78130 0.25258 None None None None None None C22orf23|0.032233114|68.5%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_51.variant15 22 rs139879
dbSNP Clinvar 		38364552 1642.33 T C PASS 1/1 67 None None None 0.71146 0.71150 None None None None None None POLR2F|0.453573676|18%
View combined sample_51.variant15 22 rs139880
dbSNP Clinvar 		38364931 758.16 T C PASS 1/1 49 None None None 0.99740 0.99740 None None None None None None POLR2F|0.453573676|18%
View combined sample_51.variant15 22 rs916424
dbSNP Clinvar 		26388144 487.09 T A PASS 1/1 33 None None None 0.53954 0.53950 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_51.variant15 22 rs139883
dbSNP Clinvar 		38369027 1814.94 C T PASS 1/1 102 None None None 0.60843 0.60840 None None None None None None POLR2F|0.453573676|18%,SOX10|0.9286365|2.77%

SOX10
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_51.variant15 22 rs139884
dbSNP Clinvar 		38369976 2189.85 A G PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.71326 0.71330 0.30417 None None None None None None POLR2F|0.453573676|18%,SOX10|0.9286365|2.77%
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_51.variant15 22 rs139888,rs397719403
dbSNP Clinvar 		38383496 858.77 A AC PASS 1/1 39 None None None None None None None None None POLR2F|0.453573676|18%
View combined sample_51.variant15 22 rs5845365,rs869148589,rs397771044
dbSNP Clinvar 		38453648 2669.05 A AG PASS 1/1 123 None None None 1.00000 1.00000 None None None None None None PICK1|0.328130305|25.6%
View combined sample_51.variant15 22 rs5845366,rs397705190
dbSNP Clinvar 		38453679 3138.82 A AG PASS 1/1 129 None None None 0.98303 0.98300 None None None None None None PICK1|0.328130305|25.6%

GSTT2
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_51.variant15 22 rs2301423
dbSNP Clinvar 		24325062 2954.5 G A PASS 1/1 256 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.11546 0.21 0.73 None None None None None None GSTT2|0.001674282|91.98%
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_51.variant15 22 rs2073396
dbSNP Clinvar 		24451035 156.22 G A PASS 1/1 10 None None None 0.85184 0.85180 None None None None None None CABIN1|0.222656185|34.11%

PRODH
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_51.variant15 22 rs372055
dbSNP Clinvar 		18900750 4217.81 G A PASS 1/1 163 SYNONYMOUS_CODING LOW None 0.76338 0.76340 0.24120 None None None None None None DGCR6|0.0553658|61.1%,PRODH|0.133392589|45.38%
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_51.variant15 22 rs737858
dbSNP Clinvar 		19471609 1359.68 A G PASS 1/1 78 None None None 0.89377 0.89380 None None None None None None CDC45|0.703453878|8.4%

PRODH
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_51.variant15 22 rs450046
dbSNP Clinvar 		18901004 2583.88 C T PASS 1/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.90555 0.90560 0.09580 0.42 0.00 None None None None None None DGCR6|0.0553658|61.1%,PRODH|0.133392589|45.38%
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_51.variant15 22 rs385440
dbSNP Clinvar 		18901090 1582.12 A G PASS 1/1 70 None None None 0.84185 0.84190 0.15125 None None None None None None DGCR6|0.0553658|61.1%,PRODH|0.133392589|45.38%

PRODH
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_51.variant15 22 rs455072
dbSNP Clinvar 		18904414 722.21 A G PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.83746 0.83750 None None None None None None PRODH|0.133392589|45.38%
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_51.variant15 22 rs3070663,rs774596782,rs71696225,rs397838291,rs796215520
dbSNP Clinvar 		26701854 339.33 TTC T PASS 1/1 14 None None None 0.00140 0.37680 None None None None None None SEZ6L|0.037502829|66.63%

SEZ6L
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_51.variant15 22 rs1210894
dbSNP Clinvar 		26702015 3280.31 A C PASS 1/1 164 SYNONYMOUS_CODING LOW None 0.36282 0.36280 0.49746 None None None None None None SEZ6L|0.037502829|66.63%
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_51.variant15 22 rs375115
dbSNP Clinvar 		18904606 332.99 T G PASS 1/1 21 None None None 0.83746 0.83750 None None None None None None PRODH|0.133392589|45.38%
View combined sample_51.variant15 22 rs2073732
dbSNP Clinvar 		19504470 1326.4 T C PASS 1/1 203 None None None 0.65575 0.65580 0.39269 None None None None None None CDC45|0.703453878|8.4%
View combined sample_51.variant15 22 rs426237
dbSNP Clinvar 		18904643 100.12 G A PASS 1/1 12 None None None 0.83746 0.83750 None None None None None None PRODH|0.133392589|45.38%
View combined sample_51.variant15 22 rs11541676
dbSNP Clinvar 		18271710 3947.69 G A PASS 1/1 187 None None None 0.08806 0.08806 None None None None None None MICAL3|0.205641571|36.04%
View combined sample_51.variant15 22 rs35516923
dbSNP Clinvar 		18271943 2271.74 G A PASS 1/1 113 None None None 0.09984 0.09984 None None None None None None MICAL3|0.205641571|36.04%
View combined sample_51.variant15 22 rs1076660
dbSNP Clinvar 		26769234 1292.58 T G PASS 1/1 27 None None None 0.79054 0.79050 None None None None None None SEZ6L|0.037502829|66.63%
View combined sample_51.variant15 22 rs3842461
dbSNP Clinvar 		18271959 2239.22 GC G PASS 1/1 104 None None None 0.50679 0.50680 None None None None None None MICAL3|0.205641571|36.04%
View combined sample_51.variant15 22 rs11912641
dbSNP Clinvar 		18273256 4573.03 G C PASS 1/1 206 None None None 0.10064 0.10060 None None None None None None MICAL3|0.205641571|36.04%
View combined sample_51.variant15 22 . 18685172 61.77 A C PASS 1/1 2 None None None None None None None None None None
View combined sample_51.variant15 22 . 18685177 61.77 C T PASS 1/1 2 None None None None None None None None None None
View combined sample_51.variant15 22 . 18685195 61.77 T A PASS 1/1 2 None None None None None None None None None None
View combined sample_51.variant15 22 . 18685205 61.77 T C PASS 1/1 2 None None None None None None None None None None
View combined sample_51.variant15 22 rs3830720,rs397840544,rs10568239
dbSNP Clinvar 		38699050 4446.09 GAGGC G PASS 1/1 114 None None None 0.88059 0.88060 0.11492 None None None None None None CSNK1E|0.501579173|15.76%
View combined sample_51.variant15 22 rs482902
dbSNP Clinvar 		26777795 2205.64 A T PASS 1/1 84 None None None 0.79094 0.79090 None None None None None None SEZ6L|0.037502829|66.63%
View combined sample_51.variant15 22 . 18685212 61.77 A C PASS 1/1 2 None None None None None None None None None None
View combined sample_51.variant15 22 rs62230904
dbSNP Clinvar 		18685214 61.77 G T PASS 1/1 2 None None None None None None None None None None
View combined sample_51.variant15 22 rs489363
dbSNP Clinvar 		26778461 18864.9 A G PASS 1/1 607 None None None 0.66913 0.66910 None None None None None None SEZ6L|0.037502829|66.63%
View combined sample_51.variant15 22 rs111283849
dbSNP Clinvar 		26825350 331.07 A G PASS 1/1 28 None None None 0.90196 0.90200 None None None None None None ASPHD2|0.0628067|59.13%
View combined sample_51.variant15 22 rs5844702,rs869120228,rs397726718
dbSNP Clinvar 		26829338 146.54 A AT PASS 1/1 49 None None None 0.65735 0.65730 None None None None None None ASPHD2|0.0628067|59.13%
View combined sample_51.variant15 22 rs3788398
dbSNP Clinvar 		26830478 1783.81 A G PASS 1/1 205 None None None 0.86601 0.86600 0.08988 None None None None None None ASPHD2|0.0628067|59.13%

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_51.variant15 22 rs4820313
dbSNP Clinvar 		38506509 5311.0 A G PASS 1/1 195 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None BAIAP2L2|0.045525826|64.05%
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_51.variant15 22 rs3752589
dbSNP Clinvar 		26847586 379.03 G T PASS 1/1 48 None None None 0.85583 0.85580 None None None None None None HPS4|0.002818856|89%

HPS4
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_51.variant15 22 rs1894704
dbSNP Clinvar 		26853905 174.12 C A PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.82728 0.82730 0.13148 0.12 0.66 None None None None None None HPS4|0.002818856|89%
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_51.variant15 22 rs1894705
dbSNP Clinvar 		26853980 340.68 T C PASS 1/1 14 None None None 0.85284 0.85280 0.11169 None None None None None None HPS4|0.002818856|89%

HPS4
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_51.variant15 22 rs1894706
dbSNP Clinvar 		26854441 1212.35 G A PASS 1/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.82748 0.82750 0.13109 0.00 0.99 None None None None None None HPS4|0.002818856|89%
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_51.variant15 22 rs4822722
dbSNP Clinvar 		26854682 390.53 T C PASS 1/1 31 None None None 0.82748 0.82750 None None None None None None HPS4|0.002818856|89%

HPS4
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_51.variant15 22 rs5752330
dbSNP Clinvar 		26859942 398.93 C T PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.79313 0.79310 0.17953 0.04 0.60 None None None None None None HPS4|0.002818856|89%
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_51.variant15 22 rs3213583
dbSNP Clinvar 		26861545 776.81 A G PASS 1/1 55 None None None 0.81849 0.81850 0.16077 None None None None None None HPS4|0.002818856|89%
View combined sample_51.variant15 22 rs739289
dbSNP Clinvar 		26862153 2237.49 C A PASS 1/1 208 None None None 0.79074 0.79070 None None None None None None HPS4|0.002818856|89%

HPS4
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_51.variant15 22 rs713998
dbSNP Clinvar 		26862212 1576.74 T C PASS 1/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.79313 0.79310 0.17946 1.00 0.00 None None None None None None HPS4|0.002818856|89%
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_51.variant15 22 rs739290
dbSNP Clinvar 		26864658 1521.37 A G PASS 1/1 121 None None None 0.81390 0.81390 None None None None None None HPS4|0.002818856|89%
View combined sample_51.variant15 22 rs9613187
dbSNP Clinvar 		26875370 2254.17 C T PASS 1/1 74 None None None 0.02596 0.02596 0.06660 None None None None None None HPS4|0.002818856|89%
View combined sample_51.variant15 22 rs739291
dbSNP Clinvar 		26877539 1362.8 C T PASS 1/1 56 None None None 0.79014 0.79010 None None None None None None HPS4|0.002818856|89%
View combined sample_51.variant15 22 rs3747134
dbSNP Clinvar 		26877981 925.88 G A PASS 1/1 73 None None None 0.78954 0.78950 None None None None None None HPS4|0.002818856|89%
View combined sample_51.variant15 22 rs5761557
dbSNP Clinvar 		26878024 497.18 A G PASS 1/1 62 None None None 0.86681 0.86680 None None None None None None HPS4|0.002818856|89%
View combined sample_51.variant15 22 rs968425
dbSNP Clinvar 		26879823 854.28 C A PASS 1/1 62 None None None 0.78954 0.78950 None None None None None None None

SRRD
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_51.variant15 22 rs66831137,rs576877626
dbSNP Clinvar 		26879946 775.09 GG... G PASS 1/1 44 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.28846 None None None None None None SRRD|0.005542323|85.16%
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_51.variant15 22 rs4821765
dbSNP Clinvar 		38610257 349.75 C T PASS 1/1 38 None None None 0.79094 0.79090 None None None None None None MAFF|0.117979323|47.75%
View combined sample_51.variant15 22 rs5761561
dbSNP Clinvar 		26882142 1113.92 G A PASS 1/1 64 None None None 0.42232 0.42230 None None None None None None SRRD|0.005542323|85.16%
View combined sample_51.variant15 22 rs5757193
dbSNP Clinvar 		39034867 1223.89 G A PASS 1/1 127 None None None 0.24201 0.24200 0.24726 None None None None None None FAM227A|0.0020869|90.76%
View combined sample_51.variant15 22 rs2157586
dbSNP Clinvar 		26895061 1664.69 G A PASS 1/1 174 None None None 0.92492 0.92490 0.04836 None None None None None None TFIP11|0.097505251|51.64%

SRRD
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_51.variant15 22 rs4820682
dbSNP Clinvar 		26884039 1021.96 G A PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.80831 0.80830 0.17839 0.16 0.03 None None None None None None SRRD|0.005542323|85.16%