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+ Genes 330

Genes:
AASDH, ABLIM2, ACSL1, ADAM29, ADAMTS3, ADD1, ADH1B, ADH1C, ADH4, ADH6, ADH7, AFAP1, AFP, AGA, ALB, ALPK1, AMBN, AMTN, ANK2, ANKRD17, ANXA10, ANXA5, APBB2, ARAP2, ARHGAP10, ARHGAP24, ARHGEF38, ASB5, ASIC5, ATP10D, BANK1, BBS12, BDH2, BMP2K, BMP3, BOD1L1, C4orf22, C4orf27, C4orf32, C4orf33, C4orf36, C4orf40, C4orf45, C4orf48, C4orf51, CABS1, CBR4, CC2D2A, CCDC109B, CCDC110, CCDC149, CCDC158, CCDC96, CCKAR, CCNA2, CENPC, CENPE, CENPU, CEP44, CFI, CHRNA9, CLDN24, CLNK, CLOCK, CLRN2, CNGA1, COQ2, CORIN, COX18, CPEB2, CPZ, CRMP1, CSN1S1, CSN3, CWH43, CXCL5, CYP4V2, DCAF4L1, DCHS2, DCLK2, DCTD, DDX60L, DGKQ, DMP1, DOK7, DRD5, DSPP, DTHD1, DUX4L4, DUX4L7, EDNRA, EGF, EIF4E, ELF2, ENPEP, EREG, ETFDH, EVC, EVC2, F11, FABP2, FAM114A1, FAM149A, FAM184B, FAM193A, FAM198B, FAM200B, FAM47E, FAT1, FAT4, FGF2, FGFBP1, FGFBP2, FGFR3, FGFRL1, FHDC1, FRAS1, FREM3, FRG1, FRG2, FRYL, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GAR1, GBA3, GC, GLRA3, GLRB, GPR125, GPRIN3, GRIA2, GRID2, GRK4, GRSF1, GSX2, GUCY1A3, GUF1, GYPA, GYPB, GYPE, HADH, HAND2, HELQ, HERC5, HGFAC, HMX1, HNRNPD, HOPX, HPGD, HSD17B11, HTT, IBSP, IDUA, IL2, IL21, ING2, INPP4B, KCNIP4, KCTD8, KDR, KIAA0922, KIAA1109, KIAA1211, KIAA1430, KLB, KLHL2, KLHL5, KLKB1, LAP3, LETM1, LGI2, LIMCH1, LIN54, LPHN3, LRIT3, LYAR, MAML3, MAN2B2, MANBA, MGARP, MTTP, NAAA, NAF1, NAT8L, NDNF, NDST3, NEIL3, NEK1, NEUROG2, NFKB1, NFXL1, NIPAL1, NKX3-2, NKX6-1, NOA1, NOP14, NPNT, NR3C2, NSUN7, NUDT6, OTOP1, PALLD, PAPSS1, PARM1, PDE5A, PDE6B, PDGFRA, PDLIM5, PHOX2B, PI4K2B, PLA2G12A, POLR2B, POU4F2, PPA2, PPARGC1A, PPAT, PPEF2, PPP2R2C, PRDM5, PRDM8, PRIMPOL, PRSS12, PRSS48, PSAPL1, PTPN13, QDPR, RAPGEF2, RBM46, RBM47, REST, RFC1, RGS12, RNF175, RP11-503N18.3, RP11-766F14.2, RPL9, S100P, SCLT1, SDAD1, SEC31A, SETD7, SFRP2, SH3BP2, SH3RF1, SH3TC1, SHROOM3, SLAIN2, SLC10A6, SLC2A9, SLC30A9, SLC34A2, SLC4A4, SLC7A11, SLC9B1, SLC9B2, SLIT2, SMARCA5, SMARCAD1, SMR3A, SORBS2, SORCS2, SPARCL1, SPATA18, SPON2, STAP1, STIM2, STPG2, SYNPO2, TACC3, TBC1D1, TBC1D14, TBC1D19, TBC1D9, TBCK, TENM3, TET2, THAP9, THEGL, TIFA, TIGD4, TKTL2, TLL1, TLR2, TLR6, TMEM156, TMEM165, TMEM175, TMPRSS11A, TMPRSS11B, TMPRSS11BNL, TMPRSS11E, TNIP2, TRAPPC11, TRIM2, TRIML2, TRMT44, TXK, UGDH, UGT2A1, UGT2A2, UGT2A3, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT8, UNC5C, USO1, USP17L11, USP17L12, USP17L13, USP17L18, USP38, USP53, UVSSA, WDR17, WFS1, WWC2, YTHDC1, ZAR1, ZBTB49, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF721,

+ Genes associated with diseases 86

Genes at Omim

ADAMTS3, ADD1, ADH1B, ADH1C, AFP, AGA, ALB, AMBN, AMTN, ANK2, ANXA5, BBS12, CC2D2A, CENPE, CFI, CNGA1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DRD5, DSPP, EDNRA, EGF, EIF4E, ETFDH, EVC, EVC2, F11, FAT4, FGFR3, FRAS1, GABRA2, GABRB1, GLRB, GRID2, GUCY1A3, GUF1, GYPA, GYPB, HMX1, HPGD, HTT, IDUA, IL21, KDR, KIAA1109, KLKB1, LRIT3, MANBA, MTTP, NAT8L, NEK1, NFKB1, NKX3-2, NR3C2, PALLD, PDE6B, PDGFRA, PHOX2B, PPA2, PRDM5, PRDM8, PRSS12, QDPR, RAPGEF2, REST, SH3BP2, SLC2A9, SLC30A9, SLC34A2, SLC4A4, SMARCAD1, TBCK, TENM3, TET2, TLL1, TLR2, TMEM165, TRAPPC11, TRIM2, UGT2B17, UVSSA, WFS1, ZNF141,
ADAMTS3 ?Hennekam lymphangiectasia-lymphedema syndrome 3, 618154 (3)
ADD1 {Hypertension, essential, salt-sensitive}, 145500 (3)
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)
{Alcohol dependence, protection against}, 103780 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
AFP Alpha-fetoprotein deficiency, 615969 (3)
[Hereditary persistence of alpha-fetoprotein], 615970 (3)
AGA Aspartylglucosaminuria, 208400 (3)
ALB Analbuminemia, 616000 (3)
[Dysalbuminemic hyperthyroxinemia], 615999 (3)
AMBN Amelogenesis imperfecta, type IF, 616270 (3)
AMTN ?Amelogenesis imperfecta, type IIIB, 617607 (3)
ANK2 Cardiac arrhythmia, ankyrin-B-related, 600919 (3)
Long QT syndrome 4, 600919 (3)
ANXA5 {Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3)
BBS12 Bardet-Biedl syndrome 12, 615989 (3)
CC2D2A COACH syndrome, 216360 (3)
Joubert syndrome 9, 612285 (3)
Meckel syndrome 6, 612284 (3)
CENPE ?Microcephaly 13, primary, autosomal recessive, 616051 (3)
CFI {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)
{Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)
Complement factor I deficiency, 610984 (3)
CNGA1 Retinitis pigmentosa 49, 613756 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
CORIN Preeclampsia/eclampsia 5, 614595 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
DMP1 Hypophosphatemic rickets, AR, 241520 (3)
DOK7 ?Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 10, 254300 (3)
DRD5 {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)
{Blepharospasm, primary benign}, 606798 (3)
DSPP Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3)
Dentin dysplasia, type II, 125420 (3)
Dentinogenesis imperfecta, Shields type II, 125490 (3)
Dentinogenesis imperfecta, Shields type III, 125500 (3)
EDNRA {Migraine, resistance to}, 157300 (3)
Mandibulofacial dysostosis with alopecia, 616367 (3)
EGF Hypomagnesemia 4, renal, 611718 (3)
EIF4E {Autism, susceptibility to, 19}, 615091 (3)
ETFDH Glutaric acidemia IIC, 231680 (3)
EVC Ellis-van Creveld syndrome, 225500 (3)
?Weyers acrofacial dysostosis, 193530 (3)
EVC2 Ellis-van Creveld syndrome, 225500 (3)
Weyers acrofacial dysostosis, 193530 (3)
F11 Factor XI deficiency, autosomal dominant, 612416 (3)
Factor XI deficiency, autosomal recessive, 612416 (3)
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Van Maldergem syndrome 2, 615546 (3)
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Hypochondroplasia, 146000 (3)
Achondroplasia, 100800 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FRAS1 Fraser syndrome 1, 219000 (3)
GABRA2 {Alcohol dependence, susceptibility to}, 103780 (3)
GABRB1 Epileptic encephalopathy, early infantile, 45, 617153 (3)
GLRB Hyperekplexia 2, 614619 (3)
GRID2 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)
GUCY1A3 Moyamoya 6 with achalasia, 615750 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
GYPA {Malaria, resistance to}, 611162 (3)
[Blood group, MNSs system], 111300 (3)
GYPB {Malaria, resistance to}, 611162 (3)
[Blood group, Ss], 111740 (3)
HMX1 Oculoauricular syndrome, 612109 (3)
HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3)
Cranioosteoarthropathy, 259100 (3)
Digital clubbing, isolated congenital, 119900 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
IDUA Mucopolysaccharidosis Ih, 607014 (3)
Mucopolysaccharidosis Ih/s, 607015 (3)
Mucopolysaccharidosis Is, 607016 (3)
IL21 ?Immunodeficiency, common variable, 11, 615767 (3)
KDR {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
Hemangioma, capillary infantile, somatic, 602089 (3)
KIAA1109 Alkuraya-Kucinskas syndrome, 617822 (3)
KLKB1 Fletcher factor (prekallikrein) deficiency, 612423 (3)
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
MANBA Mannosidosis, beta, 248510 (3)
MTTP Abetalipoproteinemia, 200100 (3)
{Metabolic syndrome, protection against}, 605552 (3)
NAT8L ?N-acetylaspartate deficiency, 614063 (3)
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3)
NFKB1 Immunodeficiency, common variable, 12, 616576 (3)
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
NR3C2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
PALLD {Pancreatic cancer, susceptibility to, 1}, 606856 (3)
PDE6B Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)
Retinitis pigmentosa-40, 613801 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PHOX2B Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3)
{Neuroblastoma, susceptibility to, 2}, 613013 (3)
Neuroblastoma with Hirschsprung disease, 613013 (3)
PPA2 ?Sudden cardiac failure, alcohol-induced, 617223 (3)
Sudden cardiac failure, infantile, 617222 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (3)
PRDM8 ?Epilepsy, progressive myoclonic, 10, 616640 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
QDPR Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
RAPGEF2 ?Epilepsy, familial adult myoclonic, 7, 618075 (3)
REST Fibromatosis, gingival, 5, 617626 (3)
{Wilms tumor 6, susceptibility to}, 616806 (3)
SH3BP2 Cherubism, 118400 (3)
SLC2A9 Hypouricemia, renal, 2, 612076 (3)
{Uric acid concentration, serum, QTL 2}, 612076 (3)
SLC30A9 ?Birk-Landau-Perez syndrome, 617595 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
SMARCAD1 Adermatoglyphia, 136000 (3)
Basan syndrome, 129200 (3)
Huriez syndrome, 181600 (3)
TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)
TENM3 Microphthalmia, isolated, with coloboma 9, 615145 (3)
TET2 Myelodysplastic syndrome, somatic, 614286 (3)
TLL1 Atrial septal defect 6, 613087 (3)
TLR2 {Leprosy, susceptibility to}, 246300 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
TMEM165 Congenital disorder of glycosylation, type IIk, 614727 (3)
TRAPPC11 Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3)
TRIM2 Charcot-Marie-Tooth disease, type 2R, 615490 (3)
UGT2B17 {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
WFS1 Deafness, autosomal dominant 6/14/38, 600965 (3)
?Cataract 41, 116400 (3)
Wolfram syndrome 1, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)
ZNF141 ?Polydactyly, postaxial, type A6, 615226 (3)

Genes at Clinical Genomics Database

AFP, AGA, ALB, AMBN, ANK2, BBS12, CC2D2A, CENPE, CFI, CNGA1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DSPP, EDNRA, EGF, ETFDH, EVC, EVC2, F11, FAT4, FGFR3, FRAS1, GLRB, GRID2, GUCY1A3, GYPA, GYPB, HADH, HMX1, HPGD, HTT, IDUA, IL21, KLKB1, LRIT3, MANBA, MTTP, NAT8L, NEK1, NFKB1, NKX3-2, NR3C2, PDE6B, PDGFRA, PHOX2B, PRDM5, PRDM8, PRIMPOL, PRSS12, QDPR, REST, SH3BP2, SLC2A9, SLC34A2, SLC4A4, SMARCAD1, TENM3, TLL1, TMEM165, TRAPPC11, TRIM2, UVSSA, WFS1, ZNF141,
AFP AFP deficiency, congenital
Hereditary persistence of AFP
AGA Aspartylglucosaminuria
ALB Dysalbuminemic hyperthyroxinemia
Analbuminemia
AMBN Amelogenesis imperfecta type IF
ANK2 Long QT syndrome, 4
Cardiac arrhythmia, ankyrin-B-related
BBS12 Bardet-Biedl syndrome 12
CC2D2A Joubert syndrome 9
Meckel syndrome 6
COACH syndrome
CENPE Microcephaly 13, primary, autosomal recessive
CFI Hemolytic uremic syndrome, atypical
Complement factor I deficiency
CNGA1 Retinitis pigmentosa 49
COQ2 Coenzyme Q10 deficiency 1
CORIN Preeclampsia/eclampsia 5
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
DMP1 Hypophosphatemic rickets, autosomal recessive 1
DOK7 Myasthenic syndrome, congenital 10
DSPP Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
Dentinogenesis imperfecta, Shields type II
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
EDNRA Mandibulofacial dysostosis with alopecia
EGF Hypomagnesemia 4, renal
ETFDH Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
EVC Ellis-van Creveld syndrome
Weyers acrofacial dysostosis
EVC2 Ellis-van Creveld syndrome
Weyers acrodental dysostosis
F11 Factor XI deficiency
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
FRAS1 Fraser syndrome
GLRB Hyperekplexia 2
GRID2 Spinocerebellar ataxia, autosomal recessive 18
GUCY1A3 Moyamoya disease 6 with achalasia
GYPA Blood group, MN locus
Blood group, Erik
GYPB Blood group, Ss
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
HMX1 Oculoauricular syndrome
HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 1
Cranioosteoarthropathy
Digital clubbing, isolated congenital
HTT Huntington disease
IDUA Mucopolysaccharidosis type I
IL21 Immunodeficiency, common variable, 11
KLKB1 Prekallikrein deficiency
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive
MANBA Mannosidosis, beta A, lysosomal
MTTP Abetalipoproteinemia
NAT8L N-acetylaspartate deficiency
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly
NFKB1 Immunodeficiency, common variable, 12
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia
NR3C2 Pseudohypoaldosteronism type I, autosomal dominant
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
PDE6B Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa 40
PDGFRA Gastrointestinal stromal tumor
PHOX2B Central hypoventilation syndrome, congenital
Neuroblastoma with Hirschsprung disease
Neuroblastoma, susceptiblity to, 2
PRDM5 Brittle cornea syndrome 2
PRDM8 Epilepsy, progressive myoclonic, 10
PRIMPOL Myopia 22, autosomal dominant
PRSS12 Mental retardation, autosomal recessive 1
QDPR Hyperphenylalaninemia, BH4-deficient, C
REST Wilms tumor 6, susceptibility to
SH3BP2 Cherubism
SLC2A9 Hypouricemia, renal, 2
SLC34A2 Pulmonary alveolar microlithiasis
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine
SMARCAD1 Adermatoglyphia
TENM3 Microphthalmia, isolated, with coloboma 9
TLL1 Atrial septal defect 6
TMEM165 Congenital disorder of glycosylation, type IIk
TRAPPC11 Limb-girdle muscular dystrophy, type 2S
TRIM2 Charcot-Marie-Tooth disease, axonal, type 2R
UVSSA UV-sensitive syndrome 3
WFS1 Wolfram syndrome
ZNF141 Postaxial polydactyly type A, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 1066
Number of Genes: 330

Export to: CSV

AASDH
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs6554348
dbSNP Clinvar 		57219592 0.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.64577 0.64580 0.37152 None None None None None None AASDH|0.054593955|61.31%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs3796544
dbSNP Clinvar 		57215677 0.0 G A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.27796 0.27800 0.38059 0.49 0.00 None None None None None None AASDH|0.054593955|61.31%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs6554354
dbSNP Clinvar 		57237683 0.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.27796 0.27800 0.38044 None None None None None None AASDH|0.054593955|61.31%

ABLIM2
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs2385904
dbSNP Clinvar 		8031471 0.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.73363 0.73360 0.24947 None None None None None None ABLIM2|0.046835245|63.64%

ACSL1
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs11727009
dbSNP Clinvar 		185687863 0.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.21486 0.21490 0.23089 None None None None None None ACSL1|0.105455707|50.16%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs2292898
dbSNP Clinvar 		185686032 0.0 C T PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.83147 0.83150 0.25442 None None None None None None ACSL1|0.105455707|50.16%

ADAM29
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs146933346
dbSNP Clinvar 		175899088 0.0 G T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00559 0.00559 0.25 0.00 None None None None None None ADAM29|0.000578944|98.03%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs61744599
dbSNP Clinvar 		175899076 0.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None ADAM29|0.000578944|98.03%

ADAMTS3
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs788908
dbSNP Clinvar 		73414286 0.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.64297 0.64300 0.31570 0.49 0.00 None None None None None None ADAMTS3|0.36423469|23.14%

ADD1
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs4961
dbSNP Clinvar 		2906707 0.0 G T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.20847 0.20850 0.15800 0.01 0.97 None None None None None None ADD1|0.123826838|46.84%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs4963
dbSNP Clinvar 		2916762 0.0 C G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.23782 0.23780 0.18138 0.18 0.69 None None None None None None ADD1|0.123826838|46.84%

ADH1B
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1789882
dbSNP Clinvar 		100235053 0.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.82967 0.82970 0.19151 None None None None None None ADH1B|0.074839204|56.32%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1229984
dbSNP Clinvar 		100239319 0.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.84145 0.84150 0.03652 0.65 0.00 None None None None None None ADH1B|0.074839204|56.32%

ADH1C
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs283413
dbSNP Clinvar 		100268190 0.0 A C PASS 1/1 0 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

ADH4
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs2032349
dbSNP Clinvar 		100062819 0.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.96406 0.96410 0.04121 None None None None None None ADH4|0.01057839|80.46%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1126673
dbSNP Clinvar 		100045616 0.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.84724 0.84720 0.26992 1.00 0.00 None None None None None None ADH4|0.01057839|80.46%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1126672
dbSNP Clinvar 		100047812 0.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.11721 0.11720 0.22797 None None None None None None ADH4|0.01057839|80.46%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1126670
dbSNP Clinvar 		100052733 0.0 C A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.84724 0.84720 0.26872 None None None None None None ADH4|0.01057839|80.46%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1126671
dbSNP Clinvar 		100048414 0.0 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.84705 0.84700 0.26911 0.69 0.00 None None None None None None ADH4|0.01057839|80.46%

ADH6
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs4699735
dbSNP Clinvar 		100140306 0.0 A T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00031 1.00 0.00 None None None None None None ADH6|0.003690924|87.44%

ADH7
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs971074
dbSNP Clinvar 		100341861 0.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.11981 0.11980 0.13755 None None None None None None ADH7|0.005793386|84.83%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1573496
dbSNP Clinvar 		100349669 0.0 C G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.03794 0.07919 0.01 0.85 None None None None None None ADH7|0.005793386|84.83%

AFAP1
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs28542374
dbSNP Clinvar 		7783163 0.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.62540 0.62540 0.40035 None None None None None None AFAP1|0.028735408|70.06%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs61742221
dbSNP Clinvar 		7857230 0.0 C T PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.17812 0.17810 0.32301 None None None None None None AFAP1|0.028735408|70.06%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs41264705
dbSNP Clinvar 		7780582 0.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.11062 0.11060 0.21667 0.13 0.04 None None None None None None AFAP1|0.028735408|70.06%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs11728778
dbSNP Clinvar 		7802292 0.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.11162 0.11160 0.21936 None None None None None None AFAP1|0.028735408|70.06%

AFP
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs4235117
dbSNP Clinvar 		74318330 0.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.97704 0.97700 0.02007 None None None None None None AFP|0.580248443|12.58%

AGA
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs2228119
dbSNP Clinvar 		178359960 0.0 G C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.92093 0.92090 0.07474 0.45 0.00 None None None None None None AGA|0.096232451|51.89%

ALB
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs962004
dbSNP Clinvar 		74285239 0.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.48343 0.48340 0.48170 None None None None None None ALB|0.999994036|0.04%

ALPK1
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs231247
dbSNP Clinvar 		113359703 0.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.66134 0.66130 0.32001 None None None None None None ALPK1|0.013394495|78.25%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs2074388
dbSNP Clinvar 		113352397 0.0 G A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.62740 0.62740 0.34615 0.25 0.64 None None None None None None ALPK1|0.013394495|78.25%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs13148353
dbSNP Clinvar 		113352628 0.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.65855 0.65850 0.31978 0.27 0.00 None None None None None None ALPK1|0.013394495|78.25%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs2074379
dbSNP Clinvar 		113352899 0.0 G A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.62680 0.62680 0.34623 0.34 0.00 None None None None None None ALPK1|0.013394495|78.25%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs11726117
dbSNP Clinvar 		113353285 0.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.65855 0.65850 0.31931 0.44 0.00 None None None None None None ALPK1|0.013394495|78.25%

AMBN
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs7439186
dbSNP Clinvar 		71469604 0.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.11941 0.11940 0.09280 0.02 0.67 None None None None None None AMBN|0.073571485|56.63%

AMTN
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs35286445
dbSNP Clinvar 		71384537 0.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.11402 0.11400 0.10280 0.01 0.29 None None None None None None AMTN|0.018262621|75.13%

ANK2
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 . 114275372 0.0 T A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.02 None None None None None None ANK2|0.34993042|24.11%

ANKRD17
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs6855349
dbSNP Clinvar 		73956736 0.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.35184 0.35180 0.36921 None None None None None None ANKRD17|0.584903468|12.36%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs6822576
dbSNP Clinvar 		73991006 0.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.99740 0.99740 0.00369 None None None None None None ANKRD17|0.584903468|12.36%

ANXA10
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs6836994
dbSNP Clinvar 		169083694 0.0 A C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.53315 0.53310 0.37214 1.00 0.00 None None None None None None ANXA10|0.100130698|51.14%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs4405979
dbSNP Clinvar 		169086441 0.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.37204 None None None None None None ANXA10|0.100130698|51.14%

ANXA5
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs41278081
dbSNP Clinvar 		122604580 0.0 A G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.00240 0.00308 0.01 0.80 None None None None None None ANXA5|0.657247591|9.82%

APBB2
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs182442220
dbSNP Clinvar 		41015796 0.0 T C PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.00100 0.00100 0.00097 None None None None None None APBB2|0.401070014|20.7%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs4861358
dbSNP Clinvar 		41015899 0.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.67412 0.67410 0.34970 0.65 0.00 None None None None None None APBB2|0.401070014|20.7%

ARAP2
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs4833069
dbSNP Clinvar 		36081878 0.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.99521 0.99520 0.00746 0.80 0.00 None None None None None None ARAP2|0.117132933|47.92%

ARHGAP10
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs35975487
dbSNP Clinvar 		148944467 0.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.11901 0.11900 0.05205 None None None None None None ARHGAP10|0.210937022|35.45%

ARHGAP24
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs6824722
dbSNP Clinvar 		86844835 0.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.39637 0.39640 0.31655 None None None None None None ARHGAP24|0.256470392|31.01%

ARHGEF38
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs6533206
dbSNP Clinvar 		106474096 0.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.99980 0.99980 None None None None None None ARHGEF38|0.075305724|56.22%

ASB5
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs6827525
dbSNP Clinvar 		177137988 0.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.51558 0.51560 0.48324 None None None None None None ASB5|0.082309685|54.71%

ASIC5
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs6848883
dbSNP Clinvar 		156787340 0.0 G A PASS 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84844 0.84840 0.16333 None None None None None None ASIC5|0.031479338|68.79%,TDO2|0.067292674|58.09%

ATP10D
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs34208443
dbSNP Clinvar 		47560002 0.0 C A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.07728 0.07728 0.14232 0.22 0.02 None None None None None None ATP10D|0.06998296|57.49%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs33995001
dbSNP Clinvar 		47514685 0.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.30491 0.30490 0.38967 0.05 0.10 None None None None None None ATP10D|0.06998296|57.49%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs7683838
dbSNP Clinvar 		47525054 0.0 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.09285 0.09285 0.13986 0.48 0.02 None None None None None None ATP10D|0.06998296|57.49%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs4145944
dbSNP Clinvar 		47593283 0.0 G C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.37700 0.37700 0.43957 1.00 0.00 None None None None None None ATP10D|0.06998296|57.49%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs16851681
dbSNP Clinvar 		47578971 0.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.28195 0.28190 0.27057 1.00 0.00 None None None None None None ATP10D|0.06998296|57.49%

BANK1
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs3113676
dbSNP Clinvar 		102965043 0.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00938 0.40 0.00 None None None None None None BANK1|0.027814487|70.51%

BBS12
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs309370
dbSNP Clinvar 		123664204 0.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.50639 0.50640 0.41381 0.35 0.00 None None None None None None BBS12|0.010536417|80.48%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs2292493
dbSNP Clinvar 		123664445 0.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.30052 0.30050 0.10664 None None None None None None BBS12|0.010536417|80.48%

BDH2
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1054707
dbSNP Clinvar 		104013796 0.0 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.15835 0.15830 0.12702 0.42 0.00 None None None None None None BDH2|0.077160545|55.86%

BMP2K
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 . 79697806 0.0 T G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.01 None None None None None None BMP2K|0.123580091|46.87%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs929260466
dbSNP Clinvar 		79697791 0.0 T G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.48 0.00 None None None None None None BMP2K|0.123580091|46.87%

BMP3
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs6831040
dbSNP Clinvar 		81967188 0.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.99880 0.99880 0.00108 0.04 0.01 None None None None None None BMP3|0.245532193|31.98%

BOD1L1
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1971278
dbSNP Clinvar 		13606576 0.0 A T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.72424 0.72420 0.33646 0.67 0.00 None None None None None None BOD1L1|0.019781318|74.3%

C4orf22
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1052325
dbSNP Clinvar 		81884722 0.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.81050 0.81050 0.22293 0.71 0.00 None None None None None None C4orf22|0.322733711|25.98%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs2867782
dbSNP Clinvar 		81529518 0.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.95687 0.95690 0.83 0.00 None None None None None None C4orf22|0.322733711|25.98%

C4orf27
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1047642
dbSNP Clinvar 		170663235 0.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.78954 0.78950 0.21852 1.00 0.00 None None None None None None C4orf27|0.233972721|33.01%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs11540095
dbSNP Clinvar 		170678993 0.0 T C PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.77736 0.77740 0.22341 None None None None None None C4orf27|0.233972721|33.01%

C4orf32
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs10002700
dbSNP Clinvar 		113066831 0.0 G A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 0.00283 1.00 0.00 None None None None None None C4orf32|0.064051223|58.88%

C4orf33
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs337277
dbSNP Clinvar 		130030652 0.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.69509 0.69510 0.30263 1.00 0.00 None None None None None None C4orf33|0.075968961|56.1%

C4orf36
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1550931
dbSNP Clinvar 		87809387 0.0 G T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.88339 0.88340 0.09365 1.00 0.00 None None None None None None C4orf36|0.004973554|85.85%

C4orf40
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1612460
dbSNP Clinvar 		71024099 0.0 A G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.03854 0.03854 0.08419 0.20 0.12 None None None None None None PRR27|0.000141121|99.88%

C4orf45
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs619128
dbSNP Clinvar 		159894250 0.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.97863 0.97860 0.02086 1.00 0.00 None None None None None None C4orf45|0.003496909|87.79%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs662473
dbSNP Clinvar 		159894305 0.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.98103 0.98100 0.01700 1.00 0.00 None None None None None None C4orf45|0.003496909|87.79%

C4orf48
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs570712
dbSNP Clinvar 		2044128 0.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.99281 0.99280 1.00 0.00 None None None None None None C4orf48|0.010842579|80.21%

C4orf51
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs10008599
dbSNP Clinvar 		146653620 0.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.07708 0.07708 0.12114 0.31 0.01 None None None None None None C4orf51|0.00215787|90.56%

CABS1
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1351419
dbSNP Clinvar 		71201388 0.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.92352 0.92350 0.09589 0.48 0.00 None None None None None None CABS1|0.003869686|87.19%

CBR4
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs2877380
dbSNP Clinvar 		169928842 0.0 G T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.72005 0.72000 0.33264 0.22 0.00 None None None None None None CBR4|0.148986414|43.14%

CC2D2A
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs73125627
dbSNP Clinvar 		15569018 0.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.15176 0.15180 0.20632 None None None None None None CC2D2A|0.011782601|79.39%

CCDC109B
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs4698744
dbSNP Clinvar 		110581363 0.0 T A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.29493 0.29490 0.25887 1.00 0.00 None None None None None None CCDC109B|0.014014782|77.87%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs13846
dbSNP Clinvar 		110605744 0.0 A T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.23622 0.23620 0.22805 0.06 0.31 None None None None None None CCDC109B|0.014014782|77.87%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs3733611
dbSNP Clinvar 		110603784 0.0 T C PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.69429 0.69430 0.28402 None None None None None None CCDC109B|0.014014782|77.87%

CCDC110
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs7699724
dbSNP Clinvar 		186381165 0.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.38558 0.38560 0.48546 None None None None None None CCDC110|0.025241211|71.69%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs11132309
dbSNP Clinvar 		186382206 0.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.38419 0.38420 0.48246 None None None None None None CCDC110|0.025241211|71.69%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs7699687
dbSNP Clinvar 		186381115 0.0 G T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.38558 0.38560 0.48492 1.00 0.00 None None None None None None CCDC110|0.025241211|71.69%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs7698680
dbSNP Clinvar 		186380846 0.0 A T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.38558 0.38560 0.48685 0.64 0.00 None None None None None None CCDC110|0.025241211|71.69%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs11132306
dbSNP Clinvar 		186380515 0.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.38439 0.38440 0.48508 0.88 0.00 None None None None None None CCDC110|0.025241211|71.69%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs36007437
dbSNP Clinvar 		186380295 0.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.29493 0.29490 0.39827 None None None None None None CCDC110|0.025241211|71.69%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs59319722
dbSNP Clinvar 		186380243 0.0 A C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.38478 0.38480 0.48309 1.00 0.00 None None None None None None CCDC110|0.025241211|71.69%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs35596415
dbSNP Clinvar 		186379899 0.0 G C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.38439 0.38440 0.48545 1.00 0.00 None None None None None None CCDC110|0.025241211|71.69%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs7687202
dbSNP Clinvar 		186379371 0.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.97744 0.97740 0.02553 None None None None None None CCDC110|0.025241211|71.69%

CCDC149
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs12511068
dbSNP Clinvar 		24896658 0.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.16014 0.16010 0.31 0.00 None None None None None None CCDC149|0.179037224|39.13%

CCDC158
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs17001890
dbSNP Clinvar 		77305346 0.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.22684 0.22680 0.26627 None None None None None None CCDC158|0.159387055|41.66%

CCDC96
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs871133
dbSNP Clinvar 		7044357 0.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.96506 0.96510 0.03329 None None None None None None CCDC96|0.002891938|88.85%,TADA2B|0.090242026|53.19%

CCKAR
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 . 26483422 0.0 T G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.18 None None None None None None CCKAR|0.228806612|33.45%

CCNA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs769242
dbSNP Clinvar 		122742217 0.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.96865 0.96870 0.03091 0.77 0.00 None None None None None None CCNA2|0.718963702|7.99%

CENPC
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs355510
dbSNP Clinvar 		68384008 0.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.70427 0.70430 0.39430 None None None None None None CENPC|0.0414428|65.32%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1056789
dbSNP Clinvar 		68374597 0.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.70048 0.70050 0.38667 None None None None None None CENPC|0.0414428|65.32%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs11250
dbSNP Clinvar 		68380215 0.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.70068 0.70070 0.38824 0.19 0.64 None None None None None None CENPC|0.0414428|65.32%

CENPE
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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1381658
dbSNP Clinvar 		104062223 0.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.16913 0.16910 0.13970 None None None None None None CENPE|0.108588521|49.44%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 4 rs1381657
dbSNP Clinvar 		104061993 0.0 C G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.21086 0.21090 0.18146 0.67 0.01 None None None None None None CENPE|0.108588521|49.44%