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+ Genes 323

Genes:
AARD, ABRA, AC023632.1, AC138647.1, ADAM18, ADAM28, ADAM32, ADCK5, ADCY8, ADHFE1, ADRA1A, ADRB3, AGO2, AGPAT5, ANGPT2, ANK1, ANXA13, ARC, ARHGEF10, ARMC1, ASAH1, ASAP1, ASH2L, ASPH, AZIN1, BAI1, BHLHE22, BIN3, BLK, BMP1, BRF2, C8orf31, C8orf4, C8orf44, C8orf48, C8orf59, C8orf74, C8orf82, CA2, CA3, CA8, CCAR2, CDCA2, CDH17, CLDN23, CLU, CNGB3, CNOT7, COL14A1, COL22A1, COMMD5, COPS5, COX6C, CPQ, CPSF1, CRH, CSGALNACT1, CSMD1, CSMD3, CSPP1, CTHRC1, CTSB, CYC1, CYHR1, CYP11B1, CYP11B2, DDHD2, DEFB106A, DEFB107A, DEFB136, DENND3, DEPTOR, DLC1, DLGAP2, DOCK5, DPYS, DPYSL2, DSCC1, DUSP4, E2F5, EBF2, EEF1D, EFR3A, ENPP2, EPPK1, ERI1, ERICH1, ESRP1, EXT1, EYA1, FAM135B, FAM160B2, FAM167A, FAM83A, FAM83H, FAM86B1, FAM86B2, FAM91A1, FAM92A1, FBXO16, FBXO25, FBXO32, FBXO43, FDFT1, FER1L6, FGF20, FGL1, FUT10, GDAP1, GLI4, GML, GNRH1, GPIHBP1, GPR124, GPR20, GPT, GRINA, GSDMC, HGSNAT, HHLA1, HNF4G, HR, HSF1, HTRA4, IDO2, INTS8, KCNK9, KCNQ3, KCNU1, KIAA1429, KIAA1456, KIAA1875, KIF13B, KIFC2, KLF10, KLHL38, LAPTM4B, LOXL2, LPL, LRRC14, LRRC24, LRRC6, LY6E, LY6H, LY6K, LY96, LYNX1, LYPD2, LZTS1, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MCPH1, MFHAS1, MFSD3, MROH1, MROH5, MROH6, MSR1, MSRA, MTBP, MTMR7, MTMR9, MTUS1, MYOM2, NAPRT1, NAT1, NAT2, NDUFB9, NEFM, NIPAL2, NKAIN3, NKX2-6, NPBWR1, NRBP2, NRG1, NSMAF, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OTUD6B, OXR1, PABPC1, PAG1, PARP10, PCM1, PCMTD1, PDE7A, PDGFRL, PDLIM2, PEBP4, PENK, PEX2, PHF20L1, PHYHIP, PIWIL2, PKHD1L1, PLAG1, PLAT, PLEC, PLEKHA2, PMP2, POLB, POLR3D, POU5F1B, PRDM14, PREX2, PRKDC, PRSS55, PSD3, PSKH2, PTK2, PTK2B, PXDNL, PYCRL, R3HCC1, RAB11FIP1, RAD21, RAD54B, RB1CC1, RBM12B, RECQL4, RHOBTB2, RIMS2, RIPK2, RMDN1, RNF139, RP1, RP1L1, RRS1, RSPO2, SAMD12, SBSPON, SCARA3, SCARA5, SCRIB, SCRT1, SFRP1, SFTPC, SGK223, SGK3, SH2D4A, SHARPIN, SLC18A1, SLC25A37, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC7A13, SLC7A2, SLCO5A1, SNTG1, SORBS3, SPAG1, SPAG11A, SPAG11B, SPATC1, STAR, STAU2, TAF2, TBC1D31, TDRP, TEX15, TG, TGS1, THEM6, TIGD5, TMEM249, TMEM66, TMEM67, TMEM71, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TP53INP1, TPD52, TRAPPC9, TRIB1, TRMT12, TRPA1, TSPYL5, TTI2, USP17L2, UTP23, VPS13B, VPS37A, WISP1, WRN, XKR9, XPO7, ZBTB10, ZC2HC1A, ZC3H3, ZFAT, ZFHX4, ZFP41, ZHX2, ZNF250, ZNF251, ZNF34, ZNF395, ZNF517, ZNF572, ZNF596, ZNF623, ZNF696, ZNF7, ZNF707,

+ Genes associated with diseases 79

Genes at Omim

ADRB3, ANK1, ARHGEF10, ASAH1, ASPH, BLK, BMP1, CA2, CA8, CNGB3, CSPP1, CTHRC1, CTSB, CYC1, CYP11B1, CYP11B2, DDHD2, DLC1, DPYS, ESRP1, EXT1, EYA1, FAM83H, FDFT1, FGF20, GDAP1, GNRH1, GPIHBP1, HGSNAT, HR, KCNK9, KCNQ3, LPL, LRRC6, LZTS1, MAFA, MCM4, MCPH1, MFHAS1, MSR1, NAT2, NDUFB9, NKX2-6, NRG1, OPLAH, OTUD6B, PDGFRL, PEX2, PLAG1, PLAT, PMP2, PRKDC, RAD21, RAD54B, RB1CC1, RECQL4, RHOBTB2, RNF139, RP1, RP1L1, RSPO2, SAMD12, SFTPC, SLC39A14, SLC39A4, SPAG1, STAR, TAF2, TEX15, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, VPS13B, VPS37A, ZFHX4,
ADRB3 {Obesity, susceptibility to}, 601665 (3)
ANK1 Spherocytosis, type 1, 182900 (3)
ARHGEF10 ?Slowed nerve conduction velocity, AD, 608236 (3)
ASAH1 Farber lipogranulomatosis, 228000 (3)
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
ASPH Traboulsi syndrome, 601552 (3)
BLK Maturity-onset diabetes of the young, type 11, 613375 (3)
BMP1 Osteogenesis imperfecta, type XIII, 614856 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)
CNGB3 Achromatopsia 3, 262300 (3)
Macular degeneration, juvenile, 248200 (3)
CSPP1 Joubert syndrome 21, 615636 (3)
CTHRC1 Barrett esophagus/esophageal adenocarcinoma, 614266 (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)
DDHD2 Spastic paraplegia 54, autosomal recessive, 615033 (3)
DLC1 Colorectal cancer, somatic, 114500 (3)
DPYS Dihydropyrimidinuria, 222748 (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)
FGF20 ?Renal hypodysplasia/aplasia 2, 615721 (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)
GNRH1 ?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3)
GPIHBP1 Hyperlipoproteinemia, type 1D, 615947 (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)
KCNK9 Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)
KCNQ3 Seizures, benign neonatal, 2, 121201 (3)
LPL Combined hyperlipidemia, familial, 144250 (3)
Lipoprotein lipase deficiency, 238600 (3)
[High density lipoprotein cholesterol level QTL 11] (3)
LRRC6 Ciliary dyskinesia, primary, 19, 614935 (3)
LZTS1 Esophageal squamous cell carcinoma, somatic, 133239 (3)
MAFA Insulinomatosis and diabetes mellitus, 147630 (3)
MCM4 Immunodeficiency 54, 609981 (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)
NRG1 {?Schizophrenia, susceptibility to}, 603013 (1)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
OTUD6B Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3)
PDGFRL Hepatocellular cancer, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
PEX2 Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)
Peroxisome biogenesis disorder 5B, 614867 (3)
PLAG1 Adenomas, salivary gland pleomorphic, somatic, 181030 (3)
PLAT Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1)
Thrombophilia, familial, due to decreased release of PLAT, 612348 (1)
PMP2 Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RAD21 Cornelia de Lange syndrome 4, 614701 (3)
?Mungan syndrome, 611376 (3)
RAD54B Colon cancer, somatic, 114500 (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
RB1CC1 Breast cancer, somatic, 114480 (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)
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)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (3)
?Hyperostosis cranalis interna, 144755 (3)
SLC39A4 Acrodermatitis enteropathica, 201100 (3)
SPAG1 Ciliary dyskinesia, primary, 28, 615505 (3)
STAR Lipoid adrenal hyperplasia, 201710 (3)
TAF2 Mental retardation, autosomal recessive 40, 615599 (3)
TEX15 Spermatogenic failure 25, 617960 (3)
TG Thyroid dyshormonogenesis 3, 274700 (3)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TMEM67 COACH syndrome, 216360 (3)
Joubert syndrome 6, 610688 (3)
Meckel syndrome 3, 607361 (3)
Nephronophthisis 11, 613550 (3)
?RHYNS syndrome, 602152 (3)
{Bardet-Biedl syndrome 14, modifier of}, 615991 (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)
VPS13B Cohen syndrome, 216550 (3)
VPS37A Spastic paraplegia 53, autosomal recessive, 614898 (3)
ZFHX4 ?Ptosis, congenital, 178300 (2)

Genes at Clinical Genomics Database

ANK1, ARHGEF10, ASAH1, ASPH, BLK, BMP1, CA2, CA8, CNGB3, CSPP1, CTHRC1, CYC1, CYP11B1, CYP11B2, DDHD2, DPYS, EXT1, EYA1, FAM83H, FGF20, GDAP1, GNRH1, GPIHBP1, HGSNAT, HR, KCNK9, KCNQ3, LPL, LRRC6, MCM4, MCPH1, MSR1, NAT1, NAT2, NKX2-6, OPLAH, PEX2, PLEC, PRKDC, RAD21, RB1CC1, RECQL4, RNF139, RP1, RP1L1, SFTPC, SLC39A4, STAR, TAF2, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, VPS13B, VPS37A, WRN,
ANK1 Spherocytosis, hereditary 1
ARHGEF10 Slowed nerve conduction velocity, autosomal dominant (Hereditary motor and sensory neuropathy)
ASAH1 Farber lipogranulomatosis
Spinal muscular atrophy with progressive myoclonic epilepsy
ASPH Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB)
BLK Maturity-onset diabetes of the young, type 11
BMP1 Osteogenesis imperfecta, type XIII
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CNGB3 Achromatopsia 3
Macular degeneration, juvenile
CSPP1 Jeune Asphyxiating Thoracic Dystrophy
Joubert syndrome 21
CTHRC1 Barrett esophagus/Esophageal adenocarcinoma
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
DDHD2 Spastic paraplegia 54
DPYS Dihydropyriminidase deficiency
EXT1 Exostoses, multiple, type 1
EYA1 Branchiootic syndrome 1
Branchiootorenal syndrome 1
Otofaciocervical syndrome 1
FAM83H Amelogenesis imperfecta, type 3
FGF20 Renal hypodysplasia/aplasia 2
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
GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia
GPIHBP1 Hyperlipoproteinemia, type ID
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)
Retinitis pigmentosa 73
HR Hypotrichosis 4
Atrichia with papular lesions
Alopecia universalis congenita
KCNK9 Birk-Barel mental retardation dysmorphism syndrome
KCNQ3 Seizures, benign neonatal, 2
LPL Lipoprotein lipase deficiency
Combined hyperlipidemia, familial
Hyperlipoproteinemia, type I
LRRC6 Ciliary dyskinesia, primary 19
MCM4 Natural killer cell and glucocorticoid deficiency with DNA repair defect
MCPH1 Microcephaly, primary autosomal recessive, 1
MSR1 Barrett esophagus/esophageal adenocarcinoma
Prostate cancer
NAT1 Acetylation, NAT1-related
NAT2 Acetylation, NAT2-related
NKX2-6 Persistent truncus arteriosus
Conotruncal heart malformations
OPLAH 5-oxoprolinase deficiency
PEX2 Peroxisome biogenesis disorder 5A
Peroxisome biogenesis disorder 5B
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
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RAD21 Cornelia de Lange syndrome 4
RB1CC1 Schizophrenia
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
SFTPC Surfactant metabolism dysfunction, pulmonary, 2
SLC39A4 Acrodermatitis enteropathica
STAR Lipoid adrenal hyperplasia
TAF2 Mental retardation, autosomal recessive 40
TG Thyroid dyshormonogenesis 3
TMEM67 Nephronophthisis 11
Meckel syndrome 3
Joubert syndrome 6
COACH syndrome
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
VPS13B Cohen syndrome
VPS37A Spastic paraplegia 53, autosomal recessive
WRN Werner syndrome

Genes at HGMD

Summary

Number of Variants: 3062
Number of Genes: 323

Export to: CSV

AARD
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 ee 8 rs16889283
dbSNP Clinvar 		117950768 397.77 G C PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.29752 0.29750 0.22139 1.00 0.00 None None None None None None AARD|0.002413516|89.86%

ABRA
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 ee 8 rs11996466
dbSNP Clinvar 		107782395 1114.77 G A PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.44090 0.44090 0.40969 None None None None None None ABRA|0.085117815|54.14%
View ee 8 rs11996457
dbSNP Clinvar 		107782335 1851.77 G A PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.28055 0.28060 0.29940 None None None None None None ABRA|0.085117815|54.14%

AC023632.1
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 ee 8 rs3133651
dbSNP Clinvar 		95559092 5108.77 T C PASS 1/1 180 SYNONYMOUS_CODING LOW None 0.68171 0.68170 None None None None None None KIAA1429|0.455751702|17.88%

AC138647.1
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 ee 8 rs142246389
dbSNP Clinvar 		142528752 1746.77 A G PASS 0/1 154 SYNONYMOUS_CODING LOW None 0.09665 0.09665 None None None None None None None

ADAM18
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 ee 8 rs12708194
dbSNP Clinvar 		39496029 244.77 T C PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.58846 0.58850 0.30568 None None None None None None ADAM18|0.01116597|79.89%

ADAM28
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 ee 8 rs7009516
dbSNP Clinvar 		24208847 2083.77 G A PASS 1/1 74 None None None 0.56370 0.56370 0.46356 None None None None None None ADAM28|0.028862647|69.97%
View ee 8 rs6996616
dbSNP Clinvar 		24171051 1165.77 C T PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.18610 0.18610 0.15908 None None None None None None ADAM28|0.028862647|69.97%
View ee 8 rs7814768
dbSNP Clinvar 		24211331 1467.77 G A PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.96705 0.96710 0.02169 1.00 0.00 None None None None None None ADAM28|0.028862647|69.97%

ADAM32
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 ee 8 rs4515515
dbSNP Clinvar 		39091526 3564.77 T C PASS 1/1 134 SYNONYMOUS_CODING LOW None 0.21586 0.21590 0.21119 None None None None None None ADAM32|0.008880265|81.76%
View ee 8 rs59118660
dbSNP Clinvar 		38965271 8386.77 C T PASS 1/1 297 START_GAINED LOW None 0.43790 0.43790 0.33230 None None None None None None ADAM32|0.008880265|81.76%
View ee 8 rs7845771
dbSNP Clinvar 		39080632 2368.77 C G PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.95827 0.95830 0.03848 1.00 0.00 None None None None None None ADAM32|0.008880265|81.76%

ADCK5
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 ee 8 rs148509143,rs563415390
dbSNP Clinvar 		145617534 843.77 TG... T PASS 1/1 20 None None None 0.62700 0.62700 0.42097 None None None None None None ADCK5|0.009712798|81.05%
View ee 8 rs6599528
dbSNP Clinvar 		145603114 5452.77 A C PASS 1/1 192 NON_SYNONYMOUS_CODING MODERATE None 0.63239 0.63240 0.45824 0.82 0.00 None None None None None None ADCK5|0.009712798|81.05%

ADCY8
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 ee 8 rs2228950
dbSNP Clinvar 		132002770 257.77 G A PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.31030 0.31030 0.32024 None None None None None None ADCY8|0.569570608|13.01%
View ee 8 rs12547243
dbSNP Clinvar 		131921956 4705.77 A G PASS 1/1 172 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.42642 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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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ee 8 rs1060242
dbSNP Clinvar 		67380528 3794.77 T C PASS 1/1 141 NON_SYNONYMOUS_CODING MODERATE None 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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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ee 8 rs1048101
dbSNP Clinvar 		26628028 4535.77 A G PASS 1/1 162 NON_SYNONYMOUS_CODING MODERATE None 0.64816 0.64820 0.45494 0.40 0.00 None None None None None None ADRA1A|0.171893562|40.07%
View ee 8 rs60593443
dbSNP Clinvar 		26636906 3271.77 T A PASS 1/1 116 None None None 0.24361 0.24360 0.05 0.12 None None None None None None ADRA1A|0.171893562|40.07%
View ee 8 rs6989854
dbSNP Clinvar 		26636925 4127.77 T C PASS 1/1 94 None None None 0.64377 0.64380 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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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ee 8 rs45563241
dbSNP Clinvar 		37823607 3416.77 G A VQSRTrancheSNP99.00to99.90 0/1 366 SYNONYMOUS_CODING LOW None 0.00659 0.00659 None None None None None None ADRB3|0.10114751|50.96%

AGO2
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 ee 8 rs2292781
dbSNP Clinvar 		141559358 1863.77 G A PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%
View ee 8 rs2271738
dbSNP Clinvar 		141566311 1842.77 C T PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.44928 0.44930 0.34753 None None None None None None AGO2|0.736134544|7.47%
View ee 8 rs2292778
dbSNP Clinvar 		141568622 1317.77 G A PASS 0/1 175 SYNONYMOUS_CODING LOW None 0.65555 0.65560 0.37175 None None None None None None AGO2|0.736134544|7.47%

AGPAT5
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 ee 8 . 6605343 1059.77 A G PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.05 None None None None None None AGPAT5|0.083981086|54.43%

ANGPT2
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 ee 8 rs6559167
dbSNP Clinvar 		6389889 2313.77 C G PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.28974 0.28970 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ee 8 rs504574
dbSNP Clinvar 		41553928 3426.77 C G PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.40715 0.40710 0.36285 None None None None None None ANK1|0.956309863|2.07%

ANXA13
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 ee 8 rs2294015
dbSNP Clinvar 		124696867 1932.77 C T PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.69609 0.69610 0.31785 1.00 0.00 None None None None None None ANXA13|0.222416197|34.14%

ARC
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 ee 8 rs2234911
dbSNP Clinvar 		143695144 4254.77 G A PASS 1/1 143 SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.47025 None None None None None None ARC|0.130590354|45.8%

ARHGEF10
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 ee 8 rs3735876
dbSNP Clinvar 		1905132 3210.76 G A PASS 0/1 258 SYNONYMOUS_CODING LOW None 0.36801 0.36800 0.34561 None None None None None None ARHGEF10|0.010635325|80.42%
View ee 8 rs7003969
dbSNP Clinvar 		1817367 2524.77 G A PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.23582 0.23580 0.19545 None None None None None None ARHGEF10|0.010635325|80.42%

ARMC1
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 ee 8 rs11559265
dbSNP Clinvar 		66525548 650.77 T C PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.25619 0.25620 0.24912 None None None None None None ARMC1|0.549639557|13.74%

ASAH1
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 ee 8 rs10103355
dbSNP Clinvar 		17918934 4057.77 A G PASS 1/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.85024 0.85020 0.13340 0.92 0.00 None None None None None None ASAH1|0.03988949|65.81%

ASAP1
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 ee 8 rs966185
dbSNP Clinvar 		131124559 2262.77 T C PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.47444 0.47440 0.39866 0.86 0.00 None None None None None None ASAP1|0.438507149|18.75%

ASH2L
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 ee 8 rs2843740
dbSNP Clinvar 		37985897 1301.77 A G PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.84804 0.84800 0.08396 None None None None None None ASH2L|0.428566452|19.21%
View ee 8 rs2073351
dbSNP Clinvar 		37963239 238.77 C T PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.09984 0.09984 0.02234 None None None None None None ASH2L|0.428566452|19.21%

ASPH
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 ee 8 rs200715677
dbSNP Clinvar 		62555465 357.77 G C PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.80 0.01 None None None None None None ASPH|0.124407055|46.75%

AZIN1
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 ee 8 rs2304347
dbSNP Clinvar 		103845372 992.77 G A PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.05152 0.05152 0.00438 None None None None None None AZIN1|0.715198945|8.12%

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 ee 8 rs7460600
dbSNP Clinvar 		143603418 2240.77 G C PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.90375 0.90380 0.09007 None None None None None None ADGRB1|0.079978463|55.17%

BHLHE22
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 ee 8 rs7016250
dbSNP Clinvar 		65493429 1772.77 T G PASS 0/1 175 NON_SYNONYMOUS_CODING MODERATE None 0.52875 0.52880 0.38499 1.00 0.00 None None None None None None BHLHE22|0.316142463|26.34%

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 ee 8 rs1871900
dbSNP Clinvar 		22481449 2319.77 A G PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.49720 0.49720 0.45654 None None None None None None BIN3|0.312765796|26.64%

BLK
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 ee 8 rs2306234
dbSNP Clinvar 		11414237 4623.77 T C PASS 1/1 166 SYNONYMOUS_CODING LOW None 0.82768 0.82770 0.18753 None None None None None None BLK|0.095762795|51.98%

BMP1
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 ee 8 rs2229777
dbSNP Clinvar 		22054197 863.77 T C PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.12999 0.13000 0.10772 None None None None None None BMP1|0.631090407|10.73%

BRF2
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 ee 8 rs34817565
dbSNP Clinvar 		37702472 2400.77 G A PASS 0/1 239 SYNONYMOUS_CODING LOW None 0.02736 0.02736 0.00100 None None None None None None BRF2|0.121750334|47.19%

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 ee 8 rs11136300
dbSNP Clinvar 		144124609 2143.77 T C PASS 0/1 196 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.33292 0.06 0.00 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 ee 8 rs6474226
dbSNP Clinvar 		40011079 2304.77 G A PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.98662 0.98660 0.01107 0.53 0.00 None None None None None None C8orf4|0.263856916|30.39%

C8orf44
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 ee 8 rs1057463
dbSNP Clinvar 		67592152 1681.77 T C PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.21845 0.21850 0.22597 0.00 0.82 None None None None None None C8orf44-SGK3|0.813852292|5.49%,C8orf44|0.001520789|92.66%

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 ee 8 rs11203497
dbSNP Clinvar 		13425353 4271.77 T A PASS 1/1 156 NON_SYNONYMOUS_CODING MODERATE None 0.98502 0.98500 0.01533 1.00 0.00 None None None None None None C8orf48|0.002033946|90.89%
View ee 8 rs13273355
dbSNP Clinvar 		13424583 973.77 C T PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 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 ee 8 rs112611553
dbSNP Clinvar 		86126827 2119.77 C CA... PASS 1/1 47 CODON_INSERTION MODERATE None 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 ee 8 rs11250058
dbSNP Clinvar 		10530218 3021.77 C T PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.99241 0.99240 0.00008 0.33 0.02 None None None None None None RP1L1|0.000840698|96.44%,C8orf74|0.022006749|73.16%

C8orf82
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 ee 8 rs11557085
dbSNP Clinvar 		145752900 325.77 C T PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.39417 0.39420 None None None None None None C8orf82|0.009303358|81.44%

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 ee 8 rs703
dbSNP Clinvar 		86389403 2415.77 T C PASS 1/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 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 ee 8 rs20571
dbSNP Clinvar 		86351997 566.77 G A PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.48578 1.00 0.00 None None None None None None CA3|0.309141355|26.9%

CA8
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 ee 8 rs7464181
dbSNP Clinvar 		61178574 1746.77 T C PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

CCAR2
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 ee 8 rs7843828
dbSNP Clinvar 		22463623 1153.77 C T PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.30351 0.30350 0.31170 None None None None None None CCAR2|0.363674682|23.18%
View ee 8 rs3736147
dbSNP Clinvar 		22471824 2079.77 G A PASS 0/1 174 SYNONYMOUS_CODING LOW None 0.26937 0.26940 0.26273 None None None None None None CCAR2|0.363674682|23.18%

CDCA2
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 ee 8 rs10108752
dbSNP Clinvar 		25323777 1905.77 T C PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.95547 0.95550 0.04598 None None None None None None CDCA2|0.009449627|81.34%

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 ee 8 rs1051623
dbSNP Clinvar 		95143186 1307.77 C G PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.78395 0.78390 0.16639 0.34 0.00 None None None None None None CDH17|0.034427264|67.65%
View ee 8 rs2513797
dbSNP Clinvar 		95143138 1670.77 A G PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.08367 0.08367 0.11848 None None None None None None CDH17|0.034427264|67.65%
View ee 8 rs2251734
dbSNP Clinvar 		95158259 1876.77 G A PASS 0/1 175 SYNONYMOUS_CODING LOW None 0.31210 0.31210 0.32731 None None None None None None CDH17|0.034427264|67.65%

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 ee 8 rs2280560
dbSNP Clinvar 		8560602 4792.77 C T VQSRTrancheSNP99.00to99.90 0/1 360 NON_SYNONYMOUS_CODING MODERATE None 0.29553 0.29550 0.19371 0.59 0.04 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 ee 8 rs7982
dbSNP Clinvar 		27462481 1497.77 A G PASS 0/1 146 SYNONYMOUS_CODING LOW None 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 ee 8 rs4961206
dbSNP Clinvar 		87666251 1354.77 T G PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.67971 0.67970 0.35941 0.30 0.01 None None None None None None CNGB3|0.068013081|57.91%
View ee 8 rs6471482
dbSNP Clinvar 		87679303 1545.77 A C PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.95747 0.95750 0.12141 1.00 0.00 None None None None None None CNGB3|0.068013081|57.91%

CNOT7
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 ee 8 rs2959606
dbSNP Clinvar 		17092164 5460.77 G T PASS 1/1 202 None None None 0.96006 0.96010 None None None None None None CNOT7|0.468115018|17.27%

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 ee 8 rs2305600
dbSNP Clinvar 		121215991 664.77 T C PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.63838 0.63840 0.43165 None None None None None None COL14A1|0.765229358|6.75%
View ee 8 rs2305605
dbSNP Clinvar 		121259862 843.77 G A PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.17113 0.17110 0.04721 None None None None None None COL14A1|0.765229358|6.75%
View ee 8 rs2305598
dbSNP Clinvar 		121210069 1543.77 T C PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.63439 0.63440 0.42465 None None None None None None COL14A1|0.765229358|6.75%
View ee 8 rs2305603
dbSNP Clinvar 		121256150 1565.77 T C PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.18670 0.18670 0.06851 None None None None None None COL14A1|0.765229358|6.75%
View ee 8 rs4463470
dbSNP Clinvar 		121383048 167.77 T C PASS 0/1 33 None None None 0.82668 0.82670 0.01 0.00 None None None None None None COL14A1|0.765229358|6.75%
View ee 8 rs4870723
dbSNP Clinvar 		121228679 2565.77 A C PASS 0/1 247 NON_SYNONYMOUS_CODING MODERATE None 0.59006 0.59010 0.48401 0.01 0.45 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 ee 8 rs9644500
dbSNP Clinvar 		139697478 3724.77 T C PASS 1/1 141 SYNONYMOUS_CODING LOW None 0.57867 0.57870 0.45648 None None None None None None COL22A1|0.06710202|58.12%
View ee 8 rs2292927
dbSNP Clinvar 		139838912 1768.77 T C PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.83147 0.83150 0.17069 0.00 None None None None None None COL22A1|0.06710202|58.12%
View ee 8 rs10091563
dbSNP Clinvar 		139647262 3458.77 A G PASS 1/1 132 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.26534 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 ee 8 rs1209879
dbSNP Clinvar 		146076708 1973.77 C T PASS 0/1 232 NON_SYNONYMOUS_CODING MODERATE None 0.26837 0.26840 0.27472 0.23 0.00 None None None None None None COMMD5|0.015195338|77.01%,ZNF250|0.008654168|81.98%

COPS5
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 ee 8 rs11557200
dbSNP Clinvar 		67971452 618.77 T C PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.14597 0.14600 0.12148 None None None None None None COPS5|0.948074866|2.32%

COX6C
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 ee 8 rs1130569
dbSNP Clinvar 		100899793 548.77 G A PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.24940 0.24940 0.28480 None None None None None None COX6C|0.106176668|49.96%

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 ee 8 rs1864384
dbSNP Clinvar 		97847358 1813.77 G T PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.43618 None None None None None None CPQ|0.160118797|41.51%

CPSF1
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 ee 8 rs4317614
dbSNP Clinvar 		145623963 6840.77 G A PASS 1/1 239 SYNONYMOUS_CODING LOW None 0.45907 0.45910 0.32616 None None None None None None CPSF1|0.315599788|26.38%
View ee 8 . 145626608 965.77 A G VQSRTrancheSNP99.00to99.90 0/1 69 SYNONYMOUS_CODING LOW None None None None None None None CPSF1|0.315599788|26.38%

CRH
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 ee 8 rs6159
dbSNP Clinvar 		67089425 2120.77 T G PASS 1/1 79 SYNONYMOUS_CODING LOW None 0.38698 0.38700 0.15824 None None None None None None CRH|0.729066493|7.69%

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 ee 8 rs7017776
dbSNP Clinvar 		19362768 1336.77 C T PASS 0/1 182 NON_SYNONYMOUS_CODING MODERATE None 0.75479 0.75480 0.25780 0.91 0.01 None None None None None None CSGALNACT1|0.134495825|45.18%
View ee 8 rs12155539
dbSNP Clinvar 		19316086 1124.77 G A PASS 0/1 115 SYNONYMOUS_CODING LOW None 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 ee 8 rs17066296
dbSNP Clinvar 		3351147 602.77 G A PASS 0/1 64 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.11142 0.11140 0.06649 None None None None None None CSMD1|0.119480951|47.53%
View ee 8 rs10088378
dbSNP Clinvar 		3265590 2056.77 C T PASS 0/1 200 SYNONYMOUS_CODING LOW None 0.60304 0.60300 0.32955 None None None None None None CSMD1|0.119480951|47.53%
View ee 8 rs6558703
dbSNP Clinvar 		2910020 1780.77 A G PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.98263 0.98260 0.01646 None None None None None None CSMD1|0.119480951|47.53%
View ee 8 rs6558702
dbSNP Clinvar 		2909992 1187.77 G A PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.69289 0.69290 0.26894 0.00 None None None None None None CSMD1|0.119480951|47.53%
View ee 8 rs56109797
dbSNP Clinvar 		3351195 732.77 C A PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.09245 0.09245 0.06937 None None None None None None CSMD1|0.119480951|47.53%
View ee 8 rs3824271
dbSNP Clinvar 		2965244 1247.77 T C PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.83966 0.83970 0.21177 None None None None None None CSMD1|0.119480951|47.53%
View ee 8 rs667595
dbSNP Clinvar 		2832139 2402.77 C G PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.75100 0.75100 0.20028 None None None None None None CSMD1|0.119480951|47.53%
View ee 8 rs667859
dbSNP Clinvar 		2820745 926.77 G C PASS 0/1 104 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.36771 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 ee 8 rs2219898
dbSNP Clinvar 		114186003 1450.77 T C PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.46605 0.46610 0.31247 0.73 0.71 None None None None None None CSMD3|0.744731001|7.23%
View ee 8 rs1592624
dbSNP Clinvar 		113241088 963.77 T G PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.71226 0.71230 0.33223 0.25 0.71 None None None None None None CSMD3|0.744731001|7.23%
View ee 8 rs16883953
dbSNP Clinvar 		113702131 956.77 A G PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.03375 0.03375 0.01991 None None None None None None CSMD3|0.744731001|7.23%

CSPP1
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 ee 8 rs16933182
dbSNP Clinvar 		68074137 1617.77 G A PASS 0/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.14517 0.14520 0.11321 0.00 0.18 None None None None None None CSPP1|0.130183066|45.84%

CTHRC1
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 ee 8 rs3098233
dbSNP Clinvar 		104394744 2982.77 T C PASS 1/1 110 SYNONYMOUS_CODING LOW None 0.74461 0.74460 0.21698 None None None None None None CTHRC1|0.186760424|38.19%

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 ee 8 rs12338
dbSNP Clinvar 		11710888 1800.77 G C PASS 0/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.39597 0.39600 0.36237 0.00 0.06 None None None None None None CTSB|0.202646008|36.44%
View ee 8 rs13332
dbSNP Clinvar 		11706581 1141.77 T G PASS 0/1 103 SYNONYMOUS_CODING LOW None 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 ee 8 rs7820984
dbSNP Clinvar 		145150832 3964.77 A G PASS 1/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.96286 0.96290 0.04484 0.49 0.00 None None None None None None CYC1|0.107950243|49.59%