+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 273

Genes:
ABCA1, ABCA2, ABL1, ACTL7A, ACTL7B, ADAMTS13, ADAMTSL1, ADAMTSL2, AK1, AKAP2, AKNA, AL445665.1, AL807752.1, ALAD, ALDH1B1, ANKRD18A, ANKRD20A1, ANKS6, AQP7, ARID3C, ASPN, ASTN2, BAAT, BAG1, BARHL1, BSPRY, C5, C8G, C9orf114, C9orf117, C9orf129, C9orf139, C9orf141, C9orf142, C9orf152, C9orf172, C9orf43, C9orf50, C9orf66, C9orf69, C9orf72, C9orf84, C9orf89, CACFD1, CACNA1B, CARD9, CCDC180, CCDC183, CCL19, CCL27, CDK5RAP2, CER1, CIZ1, CNTFR, CNTLN, CNTNAP3, CNTNAP3B, CNTRL, COL15A1, COL27A1, COL5A1, COQ4, CORO2A, CRB2, CTNNAL1, CTSL, CYLC2, DAPK1, DBH, DDX31, DDX58, DEC1, DFNB31, DNAI1, DNM1, DOCK8, DOLPP1, DPH7, ENG, ENTPD2, EQTN, EXD3, EXOSC2, EXOSC3, FAM120A, FAM120AOS, FAM166B, FAM189A2, FAM205A, FAM214B, FAM78A, FBP1, FBXO10, FCN1, FCN2, FGD3, FOCAD, FOXB2, FOXD4, FOXD4L5, FOXD4L6, FOXE1, FPGS, FREM1, FRMPD1, FUBP3, FXN, GAPVD1, GBGT1, GDA, GLDC, GLE1, GLIS3, GNA14, GOLGA1, GOLGA2, GPR144, GPSM1, GRHPR, GRIN1, GRIN3A, GTF3C4, IARS, IFNA10, IFNA14, IFNA16, IFNA17, IFNA4, IFNA5, IKBKAP, INPP5E, INSL4, INVS, JAK2, KANK1, KCNT1, KCNV2, KDM4C, KIAA0368, KIAA1958, KIF24, KIF27, KLHL9, LAMC3, LCN6, LCN9, LHX6, LMX1B, LRRC8A, LRSAM1, LURAP1L, MAMDC4, MAN1B1, MAPKAP1, MLLT3, MPDZ, MUSK, NAA35, NACC2, NCS1, NDOR1, NDUFA8, NFX1, NINJ1, NIPSNAP3B, NOL6, NOL8, NOTCH1, NOXA1, NPDC1, NPR2, NTMT1, NUP188, NUP214, OLFM1, OR13C5, OR13D1, OR1N1, OR1N2, OR2K2, OR2S2, OR5C1, ORM2, PALM2-AKAP2, PAPPA, PAX5, PCSK5, PDCD1LG2, PHYHD1, PIP5K1B, PMPCA, PNPLA7, POMT1, PPAPDC3, PRRC2B, PRSS3, PRUNE2, PSAT1, PTCH1, PTGDS, PTGES, PTGES2, PTGS1, PTPDC1, PTPN3, PTPRD, RABL6, RALGDS, RAPGEF1, RGS3, RMI1, ROR2, RP11-145E5.5, RPS6, RUSC2, RXRA, SAPCD2, SARDH, SDCCAG3, SEC16A, SETX, SLC1A1, SLC24A2, SLC25A25, SLC28A3, SLC34A3, SLC44A1, SMARCA2, SNAPC4, SOHLH1, SPATA31A1, SPATA31A3, SPATA31A4, SPATA31A6, SPATA31A7, SPATA31D1, SPATA31E1, SPATA6L, SPINK4, SPTAN1, STX17, SURF6, SVEP1, TEK, TESK1, TJP2, TLE4, TLN1, TLR4, TMEM2, TNC, TNFSF15, TPD52L3, TPRN, TRIM32, TRPM3, TRPM6, TTC16, TUSC1, UAP1L1, UBQLN1, UCK1, VPS13A, WDR34, WDR38, WNK2, ZBTB43, ZDHHC12, ZNF189, ZNF484, ZNF618, ZNF658, ZNF782,

+ Genes associated with diseases 76

Genes at Omim

ABCA1, ABL1, ADAMTS13, ADAMTSL2, AK1, ALAD, ANKS6, AQP7, ASPN, BAAT, C5, C9orf72, CACNA1B, CARD9, CDK5RAP2, COL27A1, COL5A1, COQ4, CRB2, DBH, DDX58, DNAI1, DNM1, DOCK8, ENG, EXOSC2, EXOSC3, FBP1, FOXE1, FREM1, FXN, GLDC, GLE1, GLIS3, GRHPR, GRIN1, IARS, IKBKAP, INPP5E, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MUSK, NOTCH1, NPR2, NUP214, PAX5, PMPCA, POMT1, PSAT1, PTCH1, ROR2, RUSC2, SARDH, SETX, SLC1A1, SLC34A3, SMARCA2, SOHLH1, SPTAN1, TEK, TJP2, TNC, TPRN, TRIM32, TRPM6, VPS13A, WDR34,
ABCA1 HDL deficiency, type 2, 604091 (3)
Tangier disease, 205400 (3)
{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
ABL1 Congenital heart defects and skeletal malformations syndrome, 617602 (3)
Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTSL2 Geleophysic dysplasia 1, 231050 (3)
AK1 Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)
ALAD {Lead poisoning, susceptibility to}, 612740 (3)
Porphyria, acute hepatic, 612740 (3)
ANKS6 Nephronophthisis 16, 615382 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
BAAT Hypercholanemia, familial, 607748 (3)
C5 C5 deficiency, 609536 (3)
[Eculizumab, poor response to], 615749 (3)
C9orf72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)
CACNA1B ?Dystonia 23, 614860 (3)
CARD9 Candidiasis, familial, 2, autosomal recessive, 212050 (3)
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 (3)
COL27A1 Steel syndrome, 615155 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COQ4 Coenzyme Q10 deficiency, primary, 7, 616276 (3)
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
DBH Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DDX58 Singleton-Merten syndrome 2, 616298 (3)
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
DNM1 Epileptic encephalopathy, early infantile, 31, 616346 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
ENG Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)
EXOSC2 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
FBP1 Fructose-1,6-bisphosphatase deficiency, 229700 (3)
FOXE1 Bamforth-Lazarus syndrome, 241850 (3)
{Thyroid cancer, nonmedullary, 4}, 616534 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FXN Friedreich ataxia with retained reflexes, 229300 (3)
Friedreich ataxia, 229300 (3)
GLDC Glycine encephalopathy, 605899 (3)
GLE1 Congenital arthrogryposis with anterior horn cell disease, 611890 (3)
Lethal congenital contracture syndrome 1, 253310 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
GRIN1 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3)
IARS Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3)
IKBKAP Dysautonomia, familial, 223900 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
INVS Nephronophthisis 2, infantile, 602088 (3)
JAK2 Leukemia, acute myeloid, somatic, 601626 (3)
Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600880 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNT1 Epilepsy, nocturnal frontal lobe, 5, 615005 (3)
Epileptic encephalopathy, early infantile, 14, 614959 (3)
KCNV2 Retinal cone dystrophy 3B, 610356 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
LMX1B Nail-patella syndrome, 161200 (3)
LRRC8A ?Agammaglobulinemia 5, 613506 (3)
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3)
MAN1B1 Mental retardation, autosomal recessive 15, 614202 (3)
MPDZ Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)
MUSK Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
NOTCH1 Adams-Oliver syndrome 5, 616028 (3)
Aortic valve disease 1, 109730 (3)
NPR2 Epiphyseal chondrodysplasia, Miura type, 615923 (3)
Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Short stature with nonspecific skeletal abnormalities, 616255 (3)
NUP214 Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PMPCA Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
PTCH1 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Holoprosencephaly 7, 610828 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
RUSC2 Mental retardation, autosomal recessive 61, 617773 (3)
SARDH [Sarcosinemia], 268900 (3)
SETX Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SOHLH1 Ovarian dysgenesis 5, 617690 (3)
Spermatogenic failure 32, 618115 (3)
SPTAN1 Epileptic encephalopathy, early infantile, 5, 613477 (3)
TEK Glaucoma 3, primary congenital, E, 617272 (3)
Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TJP2 Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Hypercholanemia, familial, 607748 (3)
TNC Deafness, autosomal dominant 56, 615629 (3)
TPRN Deafness, autosomal recessive 79, 613307 (3)
TRIM32 Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 (3)
?Bardet-Biedl syndrome 11, 615988 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
VPS13A Choreoacanthocytosis, 200150 (3)
WDR34 Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)

Genes at Clinical Genomics Database

ABCA1, ADAMTS13, ADAMTSL2, AK1, ALAD, ANKS6, BAAT, C5, CACNA1B, CARD9, CDK5RAP2, CIZ1, COL27A1, COL5A1, COQ4, CRB2, DBH, DDX58, DNAI1, DNM1, DOCK8, ENG, EXOSC3, FBP1, FOXE1, FREM1, FXN, GLDC, GLE1, GLIS3, GRHPR, GRIN1, IKBKAP, INPP5E, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MUSK, NOTCH1, NPR2, PAX5, PMPCA, POMT1, PSAT1, PTCH1, ROR2, SETX, SLC1A1, SLC34A3, SMARCA2, SPTAN1, TEK, TJP2, TNC, TPRN, TRIM32, TRPM6, VPS13A, WDR34,
ABCA1 ABCA1 deficiency
Tangier disease
HDL deficiency, type 2
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADAMTSL2 Geleophysic dysplasia 1
AK1 Adenylate kinase deficiency, hemolytic anemia due to
ALAD Porphyria, acute hepatic
ANKS6 Nephronophthisis 16
BAAT Hypercholanemia, familial
C5 Eculizumab, poor response to
Complement component 5 deficiency
CACNA1B Dystonia 23
CARD9 Candidiasis, familial, 2
CDK5RAP2 Microcephaly, primary autosomal recessive, 3
CIZ1 Primary cervical dystonia, adult-onset
COL27A1 Steel syndrome
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COQ4 Coenzyme Q10 deficiency 7
CRB2 Focal segmental glomerulosclerosis 9
Ventriculomegaly with cystic kidney disease
DBH Dopamine beta-hydroxylase deficiency
DDX58 Singleton-Merten syndrome 2
DNAI1 Ciliary dyskinesia, primary, 1
DNM1 Epileptic encephalopathy, early infantile 31
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
ENG Hereditary hemorrhagic telangiectasia, type 1
Juvenile polyposis syndrome
EXOSC3 Pontocerebellar hypoplasia type 1B
FBP1 Fructose-1,6-bisphosphatase deficiency
FOXE1 Thyroid cancer, nonmedullary 4
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Congenital hypothyroidism
FREM1 Bifid nose with or without anorectal and renal anomalies
Trigonocephaly 2
Manitoba oculotrichoanal syndrome
Congenital diaphragmatic hernia, autosomal recessive
FXN Friedreich ataxia
GLDC Glycine encephalopathy
GLE1 Arthrogryposis, lethal, with anterior horn cell disease
Lethal congenital contracture syndrome 1
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
GRHPR Hyperoxaluria, primary, type II
GRIN1 Mental retardation, autosomal dominant 8
IKBKAP Dysautonomia, familial
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
INVS Nephronophthisis 2
JAK2 Thrombocythemia 3
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNT1 Epilepsy, nocturnal frontal lobe, 5
Early infantile epileptic encephalopathy 14
KCNV2 Retinal cone dystrophy 3B
LAMC3 Cortical malformations, occipital
LMX1B Nail-patella syndrome
LRRC8A Agammaglobulinemia 5
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P
MAN1B1 Mental retardation, autosomal recessive 15
MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2
MUSK Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
NOTCH1 Aortic valve disease
NPR2 Epiphyseal chondrodysplasia, Miura type
Short stature with nonspecific skeletal abnormalities
Acromesomelic dysplasia, Maroteaux type
PAX5 Pre-B cell acute lymphoblastic leukemia
PMPCA Spinocerebellar ataxia, autosomal recessive 2
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
PSAT1 Phosphoserine aminotransferase deficiency
PTCH1 Basal cell nevus syndrome
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
SETX Spinocerebellar ataxia, autosomal recessive 1
Amyotrophic lateral sclerosis 4, juvenile
Ataxia with oculomotor apraxia, type 2
SLC1A1 Dicarboxylic aminoaciduria
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SMARCA2 Nicolaides-Baraitser syndrome
SPTAN1 Epileptic encephalopathy, early infantile, 5
TEK Venous malformations, multiple cutaneous and mucosal
TJP2 Hypercholanemia, familial
Cholestasis, progressive familial intrahepatic 4
TNC Deafness, autosomal dominant 56
TPRN Deafness, autosomal recessive 79
TRIM32 Muscular dystrophy, limb-girdle, type 2H
Bardet-Biedl syndrome 11
TRPM6 Hypomagnesemia 1, intestinal
VPS13A Choreoacanthocytosis
WDR34 Short -rib thoracic dysplasia 11 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 1036
Number of Genes: 273

Export to: CSV
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 15ac02302_s1 genome 9 rs554298933
dbSNP Clinvar 		141107536 805.04 G GGCA PASS 0/1 45 None None None None None None None None None None

CACNA1B
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 15ac02302_s1 genome 9 . 141015970 7.08 G C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.87 None None None None None None CACNA1B|0.168604934|40.5%
View 15ac02302_s1 genome 9 rs2229948
dbSNP Clinvar 		141008876 9.8 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.50459 0.50460 0.37206 None None None None None None CACNA1B|0.168604934|40.5%
View 15ac02302_s1 genome 9 . 140953023 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00 0.83 None None None None None None CACNA1B|0.168604934|40.5%
View 15ac02302_s1 genome 9 . 140811861 4.97 G A LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.67 None None None None None None CACNA1B|0.168604934|40.5%
View 15ac02302_s1 genome 9 rs4422842
dbSNP Clinvar 		140777306 278.36 C G LowGQ;LowGQX;SB 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.15400 0.01 0.25 None None None None None None CACNA1B|0.168604934|40.5%
View 15ac02302_s1 genome 9 . 140777225 3.16 C A LowGQX;LowQD;SB 0/1 5 SYNONYMOUS_CODING LOW None None None None None None None CACNA1B|0.168604934|40.5%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02302_s1 genome 9 . 140637805 490.42 T . PASS 0 210 None None None None None None None None None EHMT1|0.048999784|62.96%
View 15ac02302_s1 genome 9 rs71493693,rs34385417
dbSNP Clinvar 		140637804 502.51 CT C PASS 0/1 248 None None None None None None None None None EHMT1|0.048999784|62.96%
View 15ac02302_s1 genome 9 . 140591641 14.92 G T LowGQ;LowGQX 1/1 2 None None None None None None None None None EHMT1|0.048999784|62.96%

DPH7
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 15ac02302_s1 genome 9 . 140469213 9.8 T A LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.09 None None None None None None DPH7|0.002405679|89.88%

PNPLA7
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 15ac02302_s1 genome 9 . 140373648 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.49 None None None None None None PNPLA7|0.019567528|74.4%
View 15ac02302_s1 genome 9 rs1891627
dbSNP Clinvar 		140357972 9.8 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.99720 0.99720 0.00131 1.00 0.00 None None None None None None PNPLA7|0.019567528|74.4%
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 15ac02302_s1 genome 9 rs28699612
dbSNP Clinvar 		140344328 1314.33 G A PASS 1/1 47 None None None 0.22804 0.22800 0.15803 None None None None None None NSMF|0.116435297|48.06%

NOXA1
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 15ac02302_s1 genome 9 . 140322511 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.01 None None None None None None NOXA1|0.003358505|87.99%

EXD3
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 15ac02302_s1 genome 9 rs7020732
dbSNP Clinvar 		140247143 52.84 T G LowGQ;LowGQX 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.93391 0.93390 0.08739 0.60 0.00 None None None None None None EXD3|0.002541663|89.59%
View 15ac02302_s1 genome 9 . 140246608 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.38 0.01 None None None None None None EXD3|0.002541663|89.59%
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 15ac02302_s1 genome 9 rs28591989
dbSNP Clinvar 		140130882 1437.44 A C PASS 0/1 91 None None None 0.32907 0.32910 0.37740 None None None None None None SLC34A3|0.007501446|83.07%

SLC34A3
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 15ac02302_s1 genome 9 rs28542318
dbSNP Clinvar 		140130606 3722.91 A T PASS 1/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.94609 0.94610 0.11308 1.00 0.00 None None None None None None SLC34A3|0.007501446|83.07%
View 15ac02302_s1 genome 9 rs28407527
dbSNP Clinvar 		140128085 3148.07 T C PASS 1/1 128 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.45567 0.45570 0.41366 None None None None None None SLC34A3|0.007501446|83.07%
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 15ac02302_s1 genome 9 . 140127421 10.14 T G LowGQX;LowQD;SB 0/1 103 None None None None None None None None None SLC34A3|0.007501446|83.07%
View 15ac02302_s1 genome 9 rs766019766
dbSNP Clinvar 		140127407 18.3 T G LowGQX;LowQD;SB 0/1 84 None None None None None None None None None SLC34A3|0.007501446|83.07%

NDOR1
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 15ac02302_s1 genome 9 rs147626135
dbSNP Clinvar 		140108704 2884.65 G A PASS 0/1 237 SYNONYMOUS_CODING LOW None 0.00300 0.00300 0.00384 None None None None None None NDOR1|0.014579156|77.44%

TPRN
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 15ac02302_s1 genome 9 . 140094518 12.22 C A LowGQX;LowQD 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.37 0.80 None None None None None None TPRN|0.005752289|84.93%
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 15ac02302_s1 genome 9 rs10747050
dbSNP Clinvar 		140055876 1485.4 G A PASS 1/1 67 None None None 0.93351 0.93350 0.05319 None None None None None None GRIN1|0.134172601|45.24%
View 15ac02302_s1 genome 9 rs41290007
dbSNP Clinvar 		140055703 1782.9 G A PASS 0/1 97 None None None 0.14337 0.14340 0.24084 None None None None None None GRIN1|0.134172601|45.24%

GRIN1
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 15ac02302_s1 genome 9 rs1126442
dbSNP Clinvar 		140051376 3847.14 G A PASS 0/1 281 SYNONYMOUS_CODING LOW None 0.13958 0.13960 0.23336 None None None None None None GRIN1|0.134172601|45.24%
View 15ac02302_s1 genome 9 rs6293
dbSNP Clinvar 		140051238 3921.24 A G PASS 0/1 275 SYNONYMOUS_CODING LOW None 0.14078 0.14080 0.23086 None None None None None None GRIN1|0.134172601|45.24%
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 15ac02302_s1 genome 9 rs10870196
dbSNP Clinvar 		140040156 806.86 G A PASS 1/1 36 None None None 0.94848 0.94850 0.05245 None None None None None None GRIN1|0.134172601|45.24%
View 15ac02302_s1 genome 9 rs71803786,rs886063733
dbSNP Clinvar 		140003529 7886.96 G GC PASS 1/1 222 None None None 0.06889 0.06889 None None None None None None MAN1B1|0.008207099|82.46%

MAN1B1
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 15ac02302_s1 genome 9 rs4567
dbSNP Clinvar 		140003427 3091.44 A G PASS 0/1 226 None None None 0.55192 0.55190 0.00 None None None None None None MAN1B1|0.008207099|82.46%
View 15ac02302_s1 genome 9 rs118117962
dbSNP Clinvar 		140002995 1678.95 C T PASS 0/1 125 None None None 0.01617 0.01617 0.03375 None None None None None None MAN1B1|0.008207099|82.46%
View 15ac02302_s1 genome 9 rs4880091
dbSNP Clinvar 		140002989 3749.65 T C PASS 1/1 122 None None None 0.80990 0.80990 0.18084 None None None None None None MAN1B1|0.008207099|82.46%
View 15ac02302_s1 genome 9 rs11790092
dbSNP Clinvar 		140002261 558.94 A G SB 0/1 32 SYNONYMOUS_CODING LOW None 0.17113 0.17110 None None None None None None MAN1B1|0.008207099|82.46%
View 15ac02302_s1 genome 9 rs10117795
dbSNP Clinvar 		140002220 1364.09 A G PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.78554 0.78550 0.00 None None None None None None MAN1B1|0.008207099|82.46%
View 15ac02302_s1 genome 9 rs12000517
dbSNP Clinvar 		140002187 713.75 C T PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.25479 0.25480 None None None None None None MAN1B1|0.008207099|82.46%
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 15ac02302_s1 genome 9 rs12115325
dbSNP Clinvar 		140001978 1383.18 C A PASS 0/1 125 None None None 0.17832 0.17830 0.27879 None None None None None None MAN1B1|0.008207099|82.46%
View 15ac02302_s1 genome 9 rs4880200
dbSNP Clinvar 		139994102 3054.43 G A PASS 1/1 102 None None None 0.75819 0.75820 0.21975 None None None None None None MAN1B1|0.008207099|82.46%
View 15ac02302_s1 genome 9 rs3750518
dbSNP Clinvar 		139982868 1288.43 C T PASS 0/1 102 None None None 0.48702 0.48700 0.40984 None None None None None None MAN1B1|0.008207099|82.46%

MAN1B1
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 15ac02302_s1 genome 9 rs968733
dbSNP Clinvar 		139981627 5243.67 A G PASS 1/1 165 NON_SYNONYMOUS_CODING MODERATE None 0.90535 0.90540 0.08584 1.00 0.00 None None None None None None MAN1B1|0.008207099|82.46%

AL807752.1
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 15ac02302_s1 genome 9 . 139980959 3.07 A C LowGQX;LowQD;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None None
View 15ac02302_s1 genome 9 . 139980928 7.08 A C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None None

UAP1L1
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 15ac02302_s1 genome 9 . 139974520 14.92 G T LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None UAP1L1|0.018733938|74.84%

SAPCD2
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 15ac02302_s1 genome 9 . 139960802 14.92 T C LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.00 None None None None None None SAPCD2|0.023069065|72.66%
View 15ac02302_s1 genome 9 . 139960076 7.08 C G LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None SAPCD2|0.023069065|72.66%
View 15ac02302_s1 genome 9 . 139960018 7.08 C G LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.08 None None None None None None SAPCD2|0.023069065|72.66%

ENTPD2
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 15ac02302_s1 genome 9 . 139945730 7.08 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ENTPD2|0.020384427|73.98%
View 15ac02302_s1 genome 9 rs4880083
dbSNP Clinvar 		139944736 9.8 C G LowGQ;LowGQX;SB 1/1 1 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None ENTPD2|0.020384427|73.98%

NPDC1
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 15ac02302_s1 genome 9 . 139935040 9.8 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None NPDC1|0.003521242|87.74%
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 15ac02302_s1 genome 9 rs756399331
dbSNP Clinvar 		139934354 3.07 T G LowGQX;LowQD;SB 0/1 3 None None None None None None None None None NPDC1|0.003521242|87.74%

C9orf139
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 15ac02302_s1 genome 9 rs41309978
dbSNP Clinvar 		139929152 9.8 G A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.00759 0.00759 0.00917 None None None None None None C9orf139|0.000737675|97.09%
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 15ac02302_s1 genome 9 rs7469569
dbSNP Clinvar 		139926402 1383.75 T C PASS 1/1 50 None None None 0.69948 0.69950 0.33331 None None None None None None C9orf139|0.000737675|97.09%,FUT7|0.009642889|81.13%

ABCA2
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 15ac02302_s1 genome 9 rs4880189
dbSNP Clinvar 		139923265 7849.22 A G PASS 1/1 253 None None None 0.76657 0.76660 0.22882 None None None None None None ABCA2|0.074227496|56.47%,C9orf139|0.000737675|97.09%
View 15ac02302_s1 genome 9 rs908828
dbSNP Clinvar 		139913239 4773.24 T G PASS 1/1 143 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00008 1.00 0.00 None None None None None None ABCA2|0.074227496|56.47%
View 15ac02302_s1 genome 9 rs908832
dbSNP Clinvar 		139912484 8177.93 A G PASS 1/1 260 SYNONYMOUS_CODING LOW None 0.96386 0.96390 0.03809 None None None None None None ABCA2|0.074227496|56.47%
View 15ac02302_s1 genome 9 rs2271862
dbSNP Clinvar 		139906359 8960.92 G A PASS 1/1 341 SYNONYMOUS_CODING LOW None 0.68730 0.68730 0.32231 None None None None None None ABCA2|0.074227496|56.47%
View 15ac02302_s1 genome 9 . 139905015 89.76 A C SB 0/1 37 None None None None None None None None None ABCA2|0.074227496|56.47%
View 15ac02302_s1 genome 9 rs7048567
dbSNP Clinvar 		139904037 4721.7 A G PASS 1/1 155 SYNONYMOUS_CODING LOW None 0.72005 0.72000 0.29152 None None None None None None ABCA2|0.074227496|56.47%
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 15ac02302_s1 genome 9 rs4880187
dbSNP Clinvar 		139902797 2345.67 C G PASS 1/1 85 None None None 0.93271 0.93270 None None None None None None ABCA2|0.074227496|56.47%
View 15ac02302_s1 genome 9 rs4880186
dbSNP Clinvar 		139902786 2368.57 G C PASS 1/1 82 None None None 0.93251 0.93250 None None None None None None ABCA2|0.074227496|56.47%
View 15ac02302_s1 genome 9 rs4880185
dbSNP Clinvar 		139902712 1929.75 A G PASS 1/1 54 None None None 0.96965 0.96960 None None None None None None ABCA2|0.074227496|56.47%

C9orf142
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 15ac02302_s1 genome 9 . 139887809 9.8 G A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.08 None None None None None None C9orf142|0.010599811|80.43%

PTGDS
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 15ac02302_s1 genome 9 rs4880179
dbSNP Clinvar 		139872048 6148.24 A G PASS 1/1 217 SYNONYMOUS_CODING LOW None 0.95487 0.95490 0.05931 None None None None None None PTGDS|0.006824526|83.66%

C9orf141
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 15ac02302_s1 genome 9 rs11787588
dbSNP Clinvar 		139863909 9.8 C T LowGQ;LowGQX;SB 1/1 2 SYNONYMOUS_CODING LOW None 0.13399 0.13400 None None None None None None PRR31|0.000570688|98.07%
View 15ac02302_s1 genome 9 rs11787585
dbSNP Clinvar 		139863841 14.92 C T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.13379 0.13380 0.00 0.77 None None None None None None PRR31|0.000570688|98.07%

C8G
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 15ac02302_s1 genome 9 rs7850844
dbSNP Clinvar 		139840543 9.8 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.96725 0.96730 0.04834 1.00 0.00 None None None None None None C8G|0.005774139|84.88%

MAMDC4
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 15ac02302_s1 genome 9 rs7869864
dbSNP Clinvar 		139749067 14.91 C T LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.78834 0.78830 0.21474 None None None None None None MAMDC4|0.006751773|83.76%

C9orf172
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 15ac02302_s1 genome 9 . 139738881 9.3 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.62 None None None None None None C9orf172|0.015366861|76.9%

RABL6
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 15ac02302_s1 genome 9 . 139734217 63.55 A C LowQD;SB 0/1 166 SYNONYMOUS_CODING LOW None None None None None None None RABL6|0.016468212|76.19%
View 15ac02302_s1 genome 9 rs2811740
dbSNP Clinvar 		139732462 836.64 C T PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.10284 0.10280 0.13839 None None None None None None RABL6|0.016468212|76.19%
View 15ac02302_s1 genome 9 rs2811741
dbSNP Clinvar 		139732331 3302.92 G C PASS 1/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.80551 0.80550 0.17764 0.21 0.61 None None None None None None RABL6|0.016468212|76.19%
View 15ac02302_s1 genome 9 rs2811742
dbSNP Clinvar 		139731969 4012.84 C T PASS 1/1 140 SYNONYMOUS_CODING LOW None 0.76657 0.76660 0.19891 None None None None None None RABL6|0.016468212|76.19%
View 15ac02302_s1 genome 9 rs2811748
dbSNP Clinvar 		139726239 3136.86 A G PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.81669 0.81670 0.12742 None None None None None None RABL6|0.016468212|76.19%

CCDC183
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 15ac02302_s1 genome 9 rs2811795
dbSNP Clinvar 		139700605 14.92 T C LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.85344 0.85340 0.14727 0.99 0.00 None None None None None None CCDC183|0.008607559|82.03%

LCN6
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 15ac02302_s1 genome 9 . 139642891 9.8 C A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None LCN6|0.003987265|87.05%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02302_s1 genome 9 . 139566693 9.8 A C LowGQ;LowGQX;SB 1/1 2 None None None None None None None None None EGFL7|0.015694127|76.65%

NOTCH1
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 15ac02302_s1 genome 9 rs4489420
dbSNP Clinvar 		139418260 4112.96 A G PASS 1/1 157 SYNONYMOUS_CODING LOW None 0.74002 0.74000 0.39133 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs2229975
dbSNP Clinvar 		139413908 1476.22 C T PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.12220 0.12220 0.12514 None None None None None None NOTCH1|0.999930909|0.16%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02302_s1 genome 9 rs9411208
dbSNP Clinvar 		139412197 3014.06 G A PASS 1/1 122 None None None 0.69629 0.69630 0.44557 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs9411254
dbSNP Clinvar 		139411880 397.94 G A PASS 0/1 40 None None None 0.52556 0.52560 0.36199 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs11145767
dbSNP Clinvar 		139411714 1086.28 T C PASS 0/1 103 None None None 0.60543 0.60540 0.42800 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs4880099
dbSNP Clinvar 		139410589 1248.92 A G PASS 0/1 109 None None None 0.68670 0.68670 0.37557 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs3125006
dbSNP Clinvar 		139410424 2816.24 A G PASS 0/1 230 None None None 0.88399 0.88400 0.12671 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs3124603
dbSNP Clinvar 		139410177 882.35 T C PASS 0/1 59 None None None 0.58726 0.58730 0.39609 None None None None None None NOTCH1|0.999930909|0.16%

NOTCH1
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 15ac02302_s1 genome 9 rs2229971
dbSNP Clinvar 		139407932 1561.86 A G PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.52776 0.52780 0.39746 None None None None None None NOTCH1|0.999930909|0.16%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02302_s1 genome 9 rs3812608
dbSNP Clinvar 		139407452 499.26 C T LowGQ;LowGQX 1/1 19 None None None 0.69728 0.69730 0.41848 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs3125001
dbSNP Clinvar 		139405261 1391.42 C T PASS 0/1 117 None None None 0.58546 0.58550 0.45492 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs36119806
dbSNP Clinvar 		139405093 1140.59 G A PASS 0/1 115 None None None 0.10763 0.10760 0.11814 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs3124598
dbSNP Clinvar 		139403554 1848.81 T C PASS 1/1 73 None None None 0.76478 0.76480 0.33098 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs11145765
dbSNP Clinvar 		139403280 133.68 C T SB 0/1 26 None None None 0.08786 0.08786 0.06459 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs3124597
dbSNP Clinvar 		139402663 5577.52 T C PASS 1/1 179 None None None 0.76717 0.76720 0.34163 None None None None None None NOTCH1|0.999930909|0.16%

NOTCH1
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 15ac02302_s1 genome 9 rs10521
dbSNP Clinvar 		139397707 999.08 G A PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.55351 0.55350 0.40804 None None None None None None NOTCH1|0.999930909|0.16%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02302_s1 genome 9 rs34383263
dbSNP Clinvar 		139397557 109.23 C G SB 0/1 19 None None None 0.11941 0.11940 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs12344155
dbSNP Clinvar 		139396983 96.99 A G SB 0/1 10 None None None 0.11661 0.11660 0.06500 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs3124594
dbSNP Clinvar 		139396408 4410.7 A G PASS 1/1 161 None None None 0.74161 0.74160 0.38896 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs9632944
dbSNP Clinvar 		139393307 567.74 A G PASS 0/1 83 None None None 0.12660 0.12660 0.12046 None None None None None None NOTCH1|0.999930909|0.16%

NOTCH1
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 15ac02302_s1 genome 9 rs2229974
dbSNP Clinvar 		139391636 8950.31 G A PASS 1/1 344 SYNONYMOUS_CODING LOW None 0.69509 0.69510 0.41873 None None None None None None NOTCH1|0.999930909|0.16%
View 15ac02302_s1 genome 9 rs61755043
dbSNP Clinvar 		139390822 2004.07 G C PASS 0/1 190 NON_SYNONYMOUS_CODING MODERATE None 0.00048 0.12 0.39 None None None None None None NOTCH1|0.999930909|0.16%

SEC16A
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 15ac02302_s1 genome 9 rs17567909
dbSNP Clinvar 		139369212 4.99 G A LowGQ;LowGQX;LowQD;SB 0/1 3 SYNONYMOUS_CODING LOW None 0.09265 0.09265 0.09430 None None None None None None SEC16A|0.003276088|88.13%
View 15ac02302_s1 genome 9 . 139369174 4.97 A G LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.32 0.12 None None None None None None SEC16A|0.003276088|88.13%