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+ Genes 225

Genes:
ABRA, ADAM28, ADCK5, ADCY8, ADHFE1, ADRA1A, ADRB3, AGO2, ANGPT2, ANK1, ANXA13, ARC, ARHGAP39, ARHGEF10, ASH2L, BAI1, BIN3, C8orf31, C8orf4, C8orf48, C8orf59, C8orf74, CA2, CA3, CDH17, CHMP4C, CHRNB3, CLDN23, CLU, CNGB3, COL14A1, COL22A1, COMMD5, CPNE3, CPQ, CSGALNACT1, CSMD1, CSMD3, CTSB, CYC1, CYHR1, CYP11B1, CYP11B2, DEFA5, DENND3, DEPTOR, DLC1, DLGAP2, DOCK5, DOK2, DPYSL2, DUSP26, DUSP4, EEF1D, EPHX2, EPPK1, ERI1, ERICH1, ESRP1, EXT1, EYA1, FAM135B, FAM167A, FAM83H, FAM86B1, FAM86B2, FBXO25, FBXO43, FDFT1, FER1L6, FGL1, FUT10, FZD6, GDAP1, GEM, GFRA2, GLI4, GPAA1, GPR20, GPT, GRHL2, GRINA, GSDMC, GSDMD, HGSNAT, HHLA1, HNF4G, HR, IDO2, INTS10, KIAA0196, KIAA1456, KIF13B, KIFC2, KLHL38, LOXL2, LRRC14, LRRC6, LY6H, LY6K, LZTS1, MAF1, MAK16, MAPK15, MATN2, MBOAT4, MCPH1, MFHAS1, MROH1, MROH5, MROH6, MSR1, MTMR7, MTMR9, MTSS1, MTUS1, MYOM2, NAPRT1, NAT2, NDUFB9, NIPAL2, NKX2-6, NPBWR1, NRBP2, NUDCD1, NUGGC, OC90, ODF1, OPLAH, OPRK1, PAG1, PARP10, PCMTD1, PDGFRL, PEBP4, PHF20L1, PHYHIP, PKHD1L1, PLAT, PLEC, POLR3D, POMK, POU5F1B, PRDM14, PREX2, PRKDC, PRSS55, PTK2B, PXDNL, PYCRL, R3HCC1, RAB11FIP1, RAD21, RECQL4, REEP4, RHOBTB2, RIMS2, RNF122, RNF139, RP1, RP1L1, RRM2B, RSPO2, SAMD12, SBSPON, SCARA5, SCRIB, SFTPC, SGK223, SH2D4A, SLC18A1, SLC25A37, SLC35G5, SLC39A4, SLC45A4, SLC7A13, SLC7A2, SLCO5A1, SNX31, SPAG11A, ST3GAL1, SYBU, TACC1, TBC1D31, TDRP, TG, TGS1, THEM6, TIGD5, TMEM66, TMEM70, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF11B, TNKS, TONSL, TOP1MT, TPD52, TRAPPC9, TRMT12, TRPA1, TSNARE1, TSTA3, TTI2, UQCRB, VCPIP1, VPS13B, VPS28, WWP1, XPO7, ZC2HC1A, ZC3H3, ZFAT, ZFP41, ZFPM2, ZMAT4, ZNF16, ZNF250, ZNF517, ZNF572, ZNF623, ZNF696, ZNF7, ZNF707,

+ Genes associated with diseases 56

Genes at Omim

ADRB3, ANK1, ARHGEF10, CA2, CNGB3, CTSB, CYC1, CYP11B1, CYP11B2, DLC1, EPHX2, ESRP1, EXT1, EYA1, FAM83H, FDFT1, FZD6, GDAP1, GPAA1, GRHL2, HGSNAT, HR, LRRC6, LZTS1, MCPH1, MFHAS1, MSR1, NAT2, NDUFB9, NKX2-6, OPLAH, PDGFRL, PLAT, POMK, PRKDC, RAD21, RECQL4, RHOBTB2, RNF139, RP1, RP1L1, RRM2B, RSPO2, SAMD12, SFTPC, SLC39A4, TG, TMEM70, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, UQCRB, VPS13B, ZFPM2,
ADRB3 {Obesity, susceptibility to}, 601665 (3)
ANK1 Spherocytosis, type 1, 182900 (3)
ARHGEF10 ?Slowed nerve conduction velocity, AD, 608236 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CNGB3 Achromatopsia 3, 262300 (3)
Macular degeneration, juvenile, 248200 (3)
CTSB Keratolytic winter erythema, 148370 (4)
CYC1 Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
DLC1 Colorectal cancer, somatic, 114500 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
ESRP1 ?Deafness, autosomal recessive 109, 618013 (3)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (3)
EYA1 Anterior segment anomalies with or without cataract, 602588 (3)
Branchiootic syndrome 1, 602588 (3)
Branchiootorenal syndrome 1, with or without cataracts, 113650 (3)
?Otofaciocervical syndrome, 166780 (3)
FAM83H Amelogenesis imperfecta, type IIIA, 130900 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FZD6 Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3)
GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)
Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Charcot-Marie-Tooth disease, type 4A, 214400 (3)
GPAA1 Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3)
GRHL2 Corneal dystrophy, posterior polymorphous, 4, 618031 (3)
Deafness, autosomal dominant 28, 608641 (3)
Ectodermal dysplasia/short stature syndrome, 616029 (3)
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Retinitis pigmentosa 73, 616544 (3)
HR Alopecia universalis, 203655 (3)
Atrichia with papular lesions, 209500 (3)
Hypotrichosis 4, 146550 (3)
LRRC6 Ciliary dyskinesia, primary, 19, 614935 (3)
LZTS1 Esophageal squamous cell carcinoma, somatic, 133239 (3)
MCPH1 Microcephaly 1, primary, autosomal recessive, 251200 (3)
MFHAS1 Malignant fibrous histiocytoma (2)
MSR1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
NAT2 [Acetylation, slow], 243400 (3)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
NKX2-6 Conotruncal heart malformations, 217095 (3)
Persistent truncus arteriosus, 217095 (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PDGFRL Hepatocellular cancer, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
PLAT Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1)
Thrombophilia, familial, due to decreased release of PLAT, 612348 (1)
POMK Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3)
?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RAD21 Cornelia de Lange syndrome 4, 614701 (3)
?Mungan syndrome, 611376 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RHOBTB2 Epileptic encephalopathy, early infantile, 64, 618004 (3)
RNF139 Renal cell carcinoma, 144700 (3)
RP1 Retinitis pigmentosa 1, 180100 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)
RSPO2 ?Humerofemoral hypoplasia with radiotibial ray deficiency, 618022 (3)
Tetraamelia syndrome 2, 618021 (3)
SAMD12 Epilepsy, familial adult myoclonic, 1, 601068 (3)
SFTPC Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)
SLC39A4 Acrodermatitis enteropathica, 201100 (3)
TG Thyroid dyshormonogenesis 3, 274700 (3)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
TNFRSF10B Squamous cell carcinoma, head and neck, 275355 (3)
TNFRSF11B Paget disease of bone 5, juvenile-onset, 239000 (3)
TRAPPC9 Mental retardation, autosomal recessive 13, 613192 (3)
TRPA1 ?Episodic pain syndrome, familial, 1, 615040 (3)
TTI2 Mental retardation, autosomal recessive 39, 615541 (3)
UQCRB Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)
VPS13B Cohen syndrome, 216550 (3)
ZFPM2 Diaphragmatic hernia 3, 610187 (3)
46XY sex reversal 9, 616067 (3)
Tetralogy of Fallot, 187500 (3)

Genes at Clinical Genomics Database

ANK1, ARHGEF10, CA2, CNGB3, CYC1, CYP11B1, CYP11B2, EXT1, EYA1, FAM83H, FZD6, GDAP1, GRHL2, HGSNAT, HR, KIAA0196, LRRC6, MCPH1, MSR1, NAT2, NKX2-6, OPLAH, PLEC, POMK, PRKDC, RAD21, RECQL4, RNF139, RP1, RP1L1, RRM2B, SFTPC, SLC39A4, TG, TMEM70, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, UQCRB, VPS13B, ZFPM2,
ANK1 Spherocytosis, hereditary 1
ARHGEF10 Slowed nerve conduction velocity, autosomal dominant (Hereditary motor and sensory neuropathy)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CNGB3 Achromatopsia 3
Macular degeneration, juvenile
CYC1 Mitochondrial complex III deficiency, nuclear type
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
EXT1 Exostoses, multiple, type 1
EYA1 Branchiootic syndrome 1
Branchiootorenal syndrome 1
Otofaciocervical syndrome 1
FAM83H Amelogenesis imperfecta, type 3
FZD6 Nail disorder, nonsyndromic noncongenital 10
GDAP1 Charcot-Marie-Tooth disease, recessive intermediate, A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
Charcot-Marie-Tooth disease, axonal, type 2K
Charcot-Marie-Tooth disease, type 4A
GRHL2 Ectodermal dysplasia/short stature syndrome
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)
Retinitis pigmentosa 73
HR Hypotrichosis 4
Atrichia with papular lesions
Alopecia universalis congenita
KIAA0196 Spastic paraplegia 8
Ritscher-Schinzel syndrome 1 (3C syndrome)
LRRC6 Ciliary dyskinesia, primary 19
MCPH1 Microcephaly, primary autosomal recessive, 1
MSR1 Barrett esophagus/esophageal adenocarcinoma
Prostate cancer
NAT2 Acetylation, NAT2-related
NKX2-6 Persistent truncus arteriosus
Conotruncal heart malformations
OPLAH 5-oxoprolinase deficiency
PLEC Muscular dystrophy, limb-girdle, type 2Q
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
POMK Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A, 12
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type C, 12
Muscle-eye brain disease
Walker-Warburg syndrome
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RAD21 Cornelia de Lange syndrome 4
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RNF139 Renal cell carcinoma, clear cell
RP1 Retinitis pigmentosa 1, autosomal dominant
Retinitis pigmentosa 1, autosomal recessive
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
Mitochondrial DNA depletion syndrome 8A
Mitochondrial DNA depletion syndrome 8B
SFTPC Surfactant metabolism dysfunction, pulmonary, 2
SLC39A4 Acrodermatitis enteropathica
TG Thyroid dyshormonogenesis 3
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TNFRSF10B Squamous cell carcinoma, head and neck
TNFRSF11B Paget disease of bone 5, juvenile
TRAPPC9 Mental retardation, autosomal recessive 13
TRPA1 Episodic pain syndrome, familial
TTI2 Mental retardation, autosomal recessive 39
UQCRB Mitochondrial complex III deficiency
VPS13B Cohen syndrome
ZFPM2 46,XY sex reversal 9

Genes at HGMD

Summary

Number of Variants: 1147
Number of Genes: 225

Export to: CSV

ABRA
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_ionxpress_027 8 rs13259080
dbSNP Clinvar 		107782065 49.7908 A G PASS 0/1 127 SYNONYMOUS_CODING LOW SILENT 0.18570 0.18570 0.12679 None None None None None None ABRA|0.085117815|54.14%

ADAM28
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_027 8 rs7814768
dbSNP Clinvar 		24211331 547.366 G A PASS 1/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96705 0.96710 0.02169 1.00 0.00 None None None None None None ADAM28|0.028862647|69.97%

ADCK5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_027 8 rs148509143,rs563415390
dbSNP Clinvar 		145617534 50.0 TG... T PASS 0/1 45 None None None 0.62700 0.62700 0.42097 None None None None None None ADCK5|0.009712798|81.05%
View tsvc_variants_ionxpress_027 8 rs6599528
dbSNP Clinvar 		145603114 791.657 A C PASS 1/1 107 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63239 0.63240 0.45824 0.80 0.00 None None None None None None ADCK5|0.009712798|81.05%

ADCY8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_027 8 rs12547243
dbSNP Clinvar 		131921956 845.173 A G PASS 1/1 114 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%
View tsvc_variants_ionxpress_027 8 rs2228950
dbSNP Clinvar 		132002770 56.5641 G A PASS 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.31030 0.31030 0.32024 None None None None None None ADCY8|0.569570608|13.01%
View tsvc_variants_ionxpress_027 8 rs12545028
dbSNP Clinvar 		131922027 114.059 T G PASS 0/1 121 SYNONYMOUS_CODING LOW SILENT 0.10483 0.10480 0.15393 None None None None None None ADCY8|0.569570608|13.01%

ADHFE1
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_ionxpress_027 8 rs1060242
dbSNP Clinvar 		67380528 181.325 T C PASS 0/1 137 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57947 0.57950 0.44349 1.00 0.00 None None None None None None ADHFE1|0.859920053|4.46%,C8orf46|0.07752265|55.76%

ADRA1A
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_ionxpress_027 8 rs1048101
dbSNP Clinvar 		26628028 1167.53 A G PASS 1/1 160 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64816 0.64820 0.45494 0.40 0.00 None None None None None None ADRA1A|0.171893562|40.07%

ADRB3
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_ionxpress_027 8 rs36031925
dbSNP Clinvar 		37822931 239.335 G A PASS 0/1 149 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00998 0.00998 0.00764 0.00 0.99 None None None None None None ADRB3|0.10114751|50.96%

AGO2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_027 8 rs2292781
dbSNP Clinvar 		141559358 412.004 G A PASS 1/1 57 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%
View tsvc_variants_ionxpress_027 8 rs2292778
dbSNP Clinvar 		141568622 835.98 G A PASS 1/1 113 SYNONYMOUS_CODING LOW SILENT 0.65555 0.65560 0.37175 None None None None None None AGO2|0.736134544|7.47%

ANGPT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_027 8 rs6559167
dbSNP Clinvar 		6389889 428.291 C A PASS 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.28974 0.28970 0.42734 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%
View tsvc_variants_ionxpress_027 8 rs1961222
dbSNP Clinvar 		6377433 428.154 C T PASS 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.14976 0.14980 0.24381 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%

ANK1
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_ionxpress_027 8 rs1137177
dbSNP Clinvar 		41563685 101.437 G A PASS 0/1 81 SYNONYMOUS_CODING LOW SILENT 0.18091 0.18090 0.19637 None None None None None None ANK1|0.956309863|2.07%
View tsvc_variants_ionxpress_027 8 rs504574
dbSNP Clinvar 		41553928 125.899 C G PASS 0/1 113 SYNONYMOUS_CODING LOW SILENT 0.40715 0.40710 0.36285 None None None None None None ANK1|0.956309863|2.07%
View tsvc_variants_ionxpress_027 8 rs2304871
dbSNP Clinvar 		41585438 164.554 G A PASS 0/1 193 SYNONYMOUS_CODING LOW SILENT 0.22844 0.22840 0.24965 None None None None None None ANK1|0.956309863|2.07%
View tsvc_variants_ionxpress_027 8 rs2304880
dbSNP Clinvar 		41559609 60.0412 G A PASS 0/1 71 SYNONYMOUS_CODING LOW SILENT 0.18071 0.18070 0.19622 None None None None None None ANK1|0.956309863|2.07%

ANXA13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_027 8 rs2294015
dbSNP Clinvar 		124696867 141.377 C T PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69609 0.69610 0.31785 1.00 0.00 None None None None None None ANXA13|0.222416197|34.14%
View tsvc_variants_ionxpress_027 8 rs2294013
dbSNP Clinvar 		124710729 141.659 C T PASS 0/1 170 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23403 0.23400 0.29479 0.12 0.02 None None None None None None ANXA13|0.222416197|34.14%

ARC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_027 8 rs28686812
dbSNP Clinvar 		143694775 790.458 G C PASS 1/1 106 SYNONYMOUS_CODING LOW SILENT 0.50060 0.50060 0.49477 None None None None None None ARC|0.130590354|45.8%

ARHGAP39
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_027 8 rs873884
dbSNP Clinvar 		145756170 33.6095 G A PASS 0/1 58 SYNONYMOUS_CODING LOW SILENT 0.38698 0.38700 0.49083 None None None None None None ARHGAP39|0.083072421|54.56%

ARHGEF10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_027 8 rs3735876
dbSNP Clinvar 		1905132 218.175 G A PASS 0/1 130 SYNONYMOUS_CODING LOW SILENT 0.36801 0.36800 0.34561 None None None None None None ARHGEF10|0.010635325|80.42%
View tsvc_variants_ionxpress_027 8 rs17683288
dbSNP Clinvar 		1877480 57.5878 T G PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03055 0.03055 0.05205 0.55 0.01 None None None None None None ARHGEF10|0.010635325|80.42%
View tsvc_variants_ionxpress_027 8 rs749822
dbSNP Clinvar 		1808256 268.875 A G PASS 0/1 250 SYNONYMOUS_CODING LOW SILENT 0.05711 0.05711 0.05859 None None None None None None ARHGEF10|0.010635325|80.42%

ASH2L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_027 8 rs2843740
dbSNP Clinvar 		37985897 832.924 A G PASS 1/1 123 SYNONYMOUS_CODING LOW SILENT 0.84804 0.84800 0.08396 None None None None None None ASH2L|0.428566452|19.21%

BAI1
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_ionxpress_027 8 rs7460600
dbSNP Clinvar 		143603418 934.531 G C PASS 1/1 148 SYNONYMOUS_CODING LOW SILENT 0.90375 0.90380 0.09007 None None None None None None ADGRB1|0.079978463|55.17%

BIN3
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_ionxpress_027 8 rs11550509
dbSNP Clinvar 		22526559 142.828 G A PASS 0/1 152 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.09884 0.09884 0.18878 None None None None None None BIN3|0.312765796|26.64%

C8orf31
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_ionxpress_027 8 rs11136300
dbSNP Clinvar 		144124609 521.685 T C PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70527 0.70530 0.33292 0.06 0.01 None None None None None None C8orf31|0.000375865|99.11%

C8orf4
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_ionxpress_027 8 rs6474226
dbSNP Clinvar 		40011079 493.411 G A PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98662 0.98660 0.01107 0.53 0.00 None None None None None None C8orf4|0.263856916|30.39%

C8orf48
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_ionxpress_027 8 rs13273355
dbSNP Clinvar 		13424583 882.195 C T PASS 1/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81210 0.81210 0.20894 1.00 0.00 None None None None None None C8orf48|0.002033946|90.89%

C8orf59
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_ionxpress_027 8 rs112611553
dbSNP Clinvar 		86126827 25.0 C CA... PASS 1/1 31 CODON_INSERTION MODERATE 0.99720 0.99720 0.00399 None None None None None None E2F5|0.388960651|21.48%,C8orf59|0.106330723|49.9%

C8orf74
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_ionxpress_027 8 rs11250058
dbSNP Clinvar 		10530218 577.037 C T PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99241 0.99240 0.00008 0.33 0.00 None None None None None None RP1L1|0.000840698|96.44%,C8orf74|0.022006749|73.16%

CA2
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_ionxpress_027 8 rs703
dbSNP Clinvar 		86389403 436.06 T C PASS 1/1 59 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

CA3
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_ionxpress_027 8 rs20571
dbSNP Clinvar 		86351997 673.374 G A PASS 1/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43950 0.43950 0.48578 1.00 0.00 None None None None None None CA3|0.309141355|26.9%

CDH17
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_ionxpress_027 8 rs2243518
dbSNP Clinvar 		95188850 625.261 T C PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80232 0.80230 0.16861 0.52 0.00 None None None None None None CDH17|0.034427264|67.65%
View tsvc_variants_ionxpress_027 8 rs1051624
dbSNP Clinvar 		95143172 41.4988 T G PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44269 0.44270 0.47363 0.22 0.00 None None None None None None CDH17|0.034427264|67.65%
View tsvc_variants_ionxpress_027 8 rs1051623
dbSNP Clinvar 		95143186 528.23 C G PASS 1/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78395 0.78390 0.16639 0.34 0.00 None None None None None None CDH17|0.034427264|67.65%
View tsvc_variants_ionxpress_027 8 rs2251734
dbSNP Clinvar 		95158259 205.93 G A PASS 0/1 136 SYNONYMOUS_CODING LOW SILENT 0.31210 0.31210 0.32731 None None None None None None CDH17|0.034427264|67.65%
View tsvc_variants_ionxpress_027 8 rs1131830
dbSNP Clinvar 		95158382 112.622 C T PASS 0/1 115 SYNONYMOUS_CODING LOW SILENT 0.43151 0.43150 0.45541 None None None None None None CDH17|0.034427264|67.65%
View tsvc_variants_ionxpress_027 8 rs35792427
dbSNP Clinvar 		95161102 59.0433 G A PASS 0/1 58 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.12680 0.12680 0.09995 None None None None None None CDH17|0.034427264|67.65%

CHMP4C
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_ionxpress_027 8 rs35094336
dbSNP Clinvar 		82670771 46.5986 G A PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04173 0.04173 0.05421 0.01 0.90 None None None None None None CHMP4C|0.143717477|43.91%

CHRNB3
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_ionxpress_027 8 . 42552741 12.0025 G A PASS 0/1 54 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.11 0.06 None None None None None None CHRNB3|0.206277486|35.99%

CLDN23
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_ionxpress_027 8 rs12548737
dbSNP Clinvar 		8560536 22.5689 G A PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11362 0.11360 0.07852 0.01 0.52 None None None None None None CLDN23|0.024207428|72.13%

CLU
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_ionxpress_027 8 rs7982
dbSNP Clinvar 		27462481 174.937 A G PASS 0/1 133 SYNONYMOUS_CODING LOW SILENT 0.66454 0.66450 0.40212 None None None None None None CLU|0.219123407|34.47%

CNGB3
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_ionxpress_027 8 rs6471482
dbSNP Clinvar 		87679303 98.2018 A C PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95747 0.95750 0.12141 1.00 0.00 None None None None None None CNGB3|0.068013081|57.91%

COL14A1
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_ionxpress_027 8 rs2305598
dbSNP Clinvar 		121210069 124.344 T C PASS 0/1 80 SYNONYMOUS_CODING LOW SILENT 0.63439 0.63440 0.42465 None None None None None None COL14A1|0.765229358|6.75%
View tsvc_variants_ionxpress_027 8 rs2305600
dbSNP Clinvar 		121215991 158.601 T C PASS 0/1 170 SYNONYMOUS_CODING LOW SILENT 0.63838 0.63840 0.43165 None None None None None None COL14A1|0.765229358|6.75%

COL22A1
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_ionxpress_027 8 rs10091563
dbSNP Clinvar 		139647262 708.934 A G PASS 1/1 91 SYNONYMOUS_CODING LOW SILENT 0.70986 0.70990 0.26534 None None None None None None COL22A1|0.06710202|58.12%
View tsvc_variants_ionxpress_027 8 rs2292927
dbSNP Clinvar 		139838912 789.002 T C PASS 1/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83147 0.83150 0.17069 1.00 0.00 None None None None None None COL22A1|0.06710202|58.12%
View tsvc_variants_ionxpress_027 8 rs9644500
dbSNP Clinvar 		139697478 618.342 T C PASS 1/1 84 SYNONYMOUS_CODING LOW SILENT 0.57867 0.57870 0.45648 None None None None None None COL22A1|0.06710202|58.12%

COMMD5
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_ionxpress_027 8 rs1209879
dbSNP Clinvar 		146076708 209.155 C T PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26837 0.26840 0.27472 0.23 0.03 None None None None None None COMMD5|0.015195338|77.01%,ZNF250|0.008654168|81.98%

CPNE3
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_ionxpress_027 8 rs2304789
dbSNP Clinvar 		87567193 116.269 C T PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21286 0.21290 0.31678 0.19 0.15 None None None None None None CPNE3|0.341445337|24.73%,CNGB3|0.068013081|57.91%

CPQ
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_ionxpress_027 8 rs61741750
dbSNP Clinvar 		97892059 33.5564 C T PASS 0/1 58 SYNONYMOUS_CODING LOW SILENT 0.03435 0.03435 0.03691 None None None None None None CPQ|0.160118797|41.51%

CSGALNACT1
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_ionxpress_027 8 rs12155539
dbSNP Clinvar 		19316086 128.985 G A PASS 0/1 99 SYNONYMOUS_CODING LOW SILENT 0.00140 0.45890 0.31378 None None None None None None CSGALNACT1|0.134495825|45.18%

CSMD1
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_ionxpress_027 8 rs73183587
dbSNP Clinvar 		3072107 108.593 G C PASS 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.06829 0.06829 0.09492 None None None None None None CSMD1|0.119480951|47.53%
View tsvc_variants_ionxpress_027 8 rs667859
dbSNP Clinvar 		2820745 109.253 G C PASS 0/1 90 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.43470 0.43470 0.36771 None None None None None None CSMD1|0.119480951|47.53%
View tsvc_variants_ionxpress_027 8 rs10088378
dbSNP Clinvar 		3265590 528.046 C T PASS 1/1 71 SYNONYMOUS_CODING LOW SILENT 0.60304 0.60300 0.32955 None None None None None None CSMD1|0.119480951|47.53%

CSMD3
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_ionxpress_027 8 rs2219898
dbSNP Clinvar 		114186003 36.2725 T C PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46605 0.46610 0.31247 0.73 0.69 None None None None None None CSMD3|0.744731001|7.23%
View tsvc_variants_ionxpress_027 8 rs1592624
dbSNP Clinvar 		113241088 1166.67 T G PASS 1/1 162 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71226 0.71230 0.33223 0.25 0.54 None None None None None None CSMD3|0.744731001|7.23%
View tsvc_variants_ionxpress_027 8 rs4876458
dbSNP Clinvar 		113237045 113.789 C T PASS 0/1 70 SYNONYMOUS_CODING LOW SILENT 0.05331 0.05331 0.08865 None None None None None None CSMD3|0.744731001|7.23%

CTSB
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_ionxpress_027 8 rs12338
dbSNP Clinvar 		11710888 206.402 G C PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39597 0.39600 0.36237 0.00 0.05 None None None None None None CTSB|0.202646008|36.44%
View tsvc_variants_ionxpress_027 8 rs13332
dbSNP Clinvar 		11706581 819.136 T G PASS 1/1 110 SYNONYMOUS_CODING LOW SILENT 0.07308 0.07308 0.34999 None None None None None None CTSB|0.202646008|36.44%

CYC1
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_ionxpress_027 8 rs7820984
dbSNP Clinvar 		145150832 411.304 A G PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96286 0.96290 0.04484 0.49 0.00 None None None None None None CYC1|0.107950243|49.59%

CYHR1
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_ionxpress_027 8 rs2721167
dbSNP Clinvar 		145689915 1042.33 G A PASS 1/1 143 None None None 0.91414 0.91410 0.03423 None None None None None None CYHR1|0.053470471|61.63%

CYP11B1
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_ionxpress_027 8 rs5283
dbSNP Clinvar 		143960597 195.711 G A PASS 0/1 155 SYNONYMOUS_CODING LOW SILENT 0.30272 0.30270 0.32831 None None None None None None GML|0.000127964|99.9%,CYP11B1|0.016882471|75.94%
View tsvc_variants_ionxpress_027 8 rs34570566
dbSNP Clinvar 		143957738 25.5978 C T PASS 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.11362 0.11360 0.08696 None None None None None None GML|0.000127964|99.9%,CYP11B1|0.016882471|75.94%

CYP11B2
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_ionxpress_027 8 rs5313
dbSNP Clinvar 		143994253 122.622 C T PASS 0/1 99 SYNONYMOUS_CODING LOW SILENT 0.13399 0.13400 0.11641 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View tsvc_variants_ionxpress_027 8 rs4536
dbSNP Clinvar 		143995761 1216.04 C T PASS 1/1 167 SYNONYMOUS_CODING LOW SILENT 0.82348 0.82350 0.03068 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View tsvc_variants_ionxpress_027 8 rs4538
dbSNP Clinvar 		143994702 147.421 G T PASS 0/1 103 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.60763 0.60760 0.46585 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View tsvc_variants_ionxpress_027 8 rs4544
dbSNP Clinvar 		143994806 71.6403 A G PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00539 0.14880 0.13225 0.08 0.00 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%

DEFA5
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_ionxpress_027 8 rs2272719
dbSNP Clinvar 		6913031 85.4182 G A PASS 0/1 70 SYNONYMOUS_CODING LOW SILENT 0.29313 0.29310 0.31885 None None None None None None DEFA5|0.000507065|98.39%

DENND3
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_ionxpress_027 8 rs441914
dbSNP Clinvar 		142161032 187.369 A C PASS 0/1 91 SYNONYMOUS_CODING LOW SILENT 0.31210 0.31210 0.16293 None None None None None None DENND3|0.011564148|79.53%
View tsvc_variants_ionxpress_027 8 rs7014062
dbSNP Clinvar 		142202884 126.758 T C PASS 0/1 91 None None None 0.71645 0.71650 0.00 None None None None None None DENND3|0.011564148|79.53%
View tsvc_variants_ionxpress_027 8 rs28446884
dbSNP Clinvar 		142202847 120.421 G A PASS 0/1 102 None None None 0.11901 0.11900 0.00 None None None None None None DENND3|0.011564148|79.53%
View tsvc_variants_ionxpress_027 8 rs1045248
dbSNP Clinvar 		142204326 151.655 C G PASS 0/1 144 SYNONYMOUS_CODING LOW SILENT 0.51178 0.51180 0.42010 None None None None None None DENND3|0.011564148|79.53%
View tsvc_variants_ionxpress_027 8 rs6990186
dbSNP Clinvar 		142202856 37.2948 C T PASS 0/1 102 None None None 0.46905 0.46900 0.00 None None None None None None DENND3|0.011564148|79.53%
View tsvc_variants_ionxpress_027 8 rs307772
dbSNP Clinvar 		142146708 411.362 T C PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89317 0.89320 0.20035 0.04 0.00 None None None None None None DENND3|0.011564148|79.53%
View tsvc_variants_ionxpress_027 8 rs2289001
dbSNP Clinvar 		142170884 224.087 C T PASS 0/1 112 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.29313 0.29310 0.25015 None None None None None None DENND3|0.011564148|79.53%

DEPTOR
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_ionxpress_027 8 rs4871827
dbSNP Clinvar 		121061879 886.308 G A PASS 1/1 143 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29952 0.29950 0.26011 0.08 0.01 None None None None None None DEPTOR|0.243075737|32.18%

DLC1
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_ionxpress_027 8 rs568182
dbSNP Clinvar 		12950315 70.1958 G T PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.11302 0.11300 0.11272 None None None None None None DLC1|0.140256235|44.36%
View tsvc_variants_ionxpress_027 8 rs532841
dbSNP Clinvar 		12957475 328.016 C T PASS 0/1 185 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49661 0.49660 0.47478 0.25 0.00 None None None None None None DLC1|0.140256235|44.36%
View tsvc_variants_ionxpress_027 8 rs658856
dbSNP Clinvar 		12952293 98.4929 C T PASS 0/1 102 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.11282 0.11280 0.11272 None None None None None None DLC1|0.140256235|44.36%

DLGAP2
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_ionxpress_027 8 rs199785303
dbSNP Clinvar 		1616658 106.634 C T PASS 0/1 91 SYNONYMOUS_CODING LOW SILENT 0.00359 0.00359 0.00263 None None None None None None DLGAP2|0.064995434|58.64%
View tsvc_variants_ionxpress_027 8 rs139590326
dbSNP Clinvar 		1581185 382.053 A T PASS 0/1 268 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00439 0.00439 0.00266 0.14 0.03 None None None None None None DLGAP2|0.064995434|58.64%
View tsvc_variants_ionxpress_027 8 rs2301963
dbSNP Clinvar 		1514009 182.289 C A PASS 0/1 147 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46066 0.46070 0.42253 0.17 0.37 None None None None None None DLGAP2|0.064995434|58.64%
View tsvc_variants_ionxpress_027 8 rs202165145
dbSNP Clinvar 		1497129 171.408 C T PASS 0/1 111 SYNONYMOUS_CODING LOW SILENT 0.00359 0.00359 0.00209 None None None None None None DLGAP2|0.064995434|58.64%
View tsvc_variants_ionxpress_027 8 rs2235112
dbSNP Clinvar 		1616718 695.817 A G PASS 1/1 97 SYNONYMOUS_CODING LOW SILENT 0.53315 0.53310 0.39413 None None None None None None DLGAP2|0.064995434|58.64%

DOCK5
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_ionxpress_027 8 rs2468902
dbSNP Clinvar 		25203022 1160.9 A G PASS 1/1 156 SYNONYMOUS_CODING LOW SILENT 0.97464 0.97460 0.02730 None None None None None None DOCK5|0.411645611|20.08%
View tsvc_variants_ionxpress_027 8 rs907157
dbSNP Clinvar 		25159885 83.5084 G A PASS 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.27796 0.27800 0.34615 None None None None None None DOCK5|0.411645611|20.08%
View tsvc_variants_ionxpress_027 8 rs761234387
dbSNP Clinvar 		25159853 84.5793 A G PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.00 None None None None None None DOCK5|0.411645611|20.08%
View tsvc_variants_ionxpress_027 8 rs2271108
dbSNP Clinvar 		25230168 170.541 C T PASS 0/1 139 SYNONYMOUS_CODING LOW SILENT 0.43810 0.43810 0.45271 None None None None None None DOCK5|0.411645611|20.08%
View tsvc_variants_ionxpress_027 8 rs2666172
dbSNP Clinvar 		25182969 711.925 C T PASS 1/1 96 SYNONYMOUS_CODING LOW SILENT 0.66893 0.66890 0.29471 None None None None None None DOCK5|0.411645611|20.08%
View tsvc_variants_ionxpress_027 8 rs2659585
dbSNP Clinvar 		25234858 472.958 A G PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99701 0.99700 0.00554 0.83 0.00 None None None None None None DOCK5|0.411645611|20.08%

DOK2
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_ionxpress_027 8 rs2242240
dbSNP Clinvar 		21767275 130.165 C G PASS 0/1 111 SYNONYMOUS_CODING LOW SILENT 0.00060 0.20590 0.13650 None None None None None None DOK2|0.027048044|70.85%

DPYSL2
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_ionxpress_027 8 rs11786691
dbSNP Clinvar 		26441477 124.206 G A PASS 0/1 86 SYNONYMOUS_CODING LOW SILENT 0.07029 0.07029 0.10780 None None None None None None DPYSL2|0.481859756|16.66%
View tsvc_variants_ionxpress_027 8 rs327222
dbSNP Clinvar 		26481771 746.968 T C PASS 1/1 101 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.93670 0.93670 0.04006 None None None None None None DPYSL2|0.481859756|16.66%

DUSP26
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_ionxpress_027 8 rs16881117
dbSNP Clinvar 		33454923 99.2083 G A PASS 0/1 118 SYNONYMOUS_CODING LOW SILENT 0.00799 0.00799 0.02791 None None None None None None DUSP26|0.138437971|44.63%

DUSP4
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_ionxpress_027 8 rs583034
dbSNP Clinvar 		29197672 771.579 A G PASS 1/1 104 SYNONYMOUS_CODING LOW SILENT 0.62240 0.62240 0.46608 None None None None None None DUSP4|0.105799709|50.05%
View tsvc_variants_ionxpress_027 8 rs374609431
dbSNP Clinvar 		29194621 53.4564 C T PASS 0/1 65 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 0.00008 None None None None None None DUSP4|0.105799709|50.05%