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:
ABHD12, ACSS2, ACTR5, ADA, ADAM33, ADRM1, ANGPT4, ANKRD60, APCDD1L, ARFGEF2, ARHGAP40, ASXL1, ATP9A, ATRN, AURKA, B4GALT5, BANF2, BCAS1, BFSP1, BIRC7, BPI, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf166, C20orf173, C20orf194, C20orf201, C20orf26, C20orf96, CABLES2, CASS4, CBFA2T2, CD93, CDC25B, CDH4, CDK5RAP1, CEBPB, CEP250, CHGB, CHRNA4, CNBD2, COL20A1, COL9A3, CPNE1, CRNKL1, CSE1L, CSRP2BP, CST1, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTL1, CTCFL, CTSZ, CYP24A1, DBNDD2, DDX27, DEFB116, DEFB125, DEFB127, DEFB128, DEFB129, DHX35, DIDO1, DNMT3B, DNTTIP1, DUSP15, DYNLRB1, DZANK1, EDEM2, EEF1A2, EFCAB8, ELMO2, ENTPD6, EPPIN, FAM110A, FAM182B, FAM65C, FAM83C, FAM83D, FITM2, FLRT3, FOXA2, FRG1B, GATA5, GDF5, GFRA4, GINS1, GMEB2, GNAS, GZF1, HELZ2, HRH3, ID1, IFT52, JPH2, KCNG1, KCNK15, KCNQ2, KIF16B, LAMA5, LBP, LRRN4, LZTS3, MACROD2, MAPRE1, MATN4, MGME1, MMP9, MROH8, MTG2, MYBL2, MYH7B, MYT1, NCOA3, NCOA6, NELFCD, NFATC2, NINL, NKAIN4, NOP56, NPBWR2, NPEPL1, NTSR1, OTOR, OVOL2, PABPC1L, PCED1A, PCK1, PCMTD2, PI3, PIGT, PIGU, PLCB4, PLCG1, PMEPA1, POFUT1, POLR3F, PPP1R16B, PPP4R1L, PREX1, PROKR2, PSMA7, PSMF1, PTGIS, PTPRT, PXMP4, PYGB, RAD21L1, RALGAPA2, RBBP8NL, RBCK1, RBL1, REM1, RIN2, RP11-352D3.2, RP11-410N8.4, RP11-429E11.3, RPN2, RPRD1B, RPS21, RRBP1, RTEL1, RTEL1-TNFRSF6B, RTFDC1, SALL4, SDCBP2, SEL1L2, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SLC12A5, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC2A4RG, SLC4A11, SLC52A3, SLC9A8, SMOX, SNPH, SNX21, SNX5, SOGA1, SPATA2, SPINT4, SPTLC3, SRC, SRSF6, SSTR4, STK35, STX16, SULF2, SUN5, TAF4, TCF15, TCFL5, TGM2, TGM3, TGM6, TLDC2, TMC2, TMEM189, TMEM189-UBE2V1, TMEM239, TMX4, TNFRSF6B, TNNC2, TP53TG5, TPX2, TRIB3, TRPC4AP, TSHZ2, TTLL9, TUBB1, UBOX5, WFDC10B, WFDC3, WFDC9, WISP2, YTHDF1, YWHAB, ZBP1, ZBTB46, ZCCHC3, ZFP64, ZGPAT, ZHX3, ZMYND8, ZNF133, ZNF217, ZNF334, ZNF335, ZNF337, ZNF341, ZNF512B, ZNF831, ZNFX1, ZSWIM1, ZSWIM3,

Genes at Omim

ABHD12, ADA, ARFGEF2, ASXL1, AURKA, BFSP1, CHRNA4, COL9A3, CST3, CYP24A1, DNMT3B, EEF1A2, ELMO2, FLRT3, GATA5, GDF5, GINS1, GNAS, GZF1, IFT52, JPH2, KCNQ2, MGME1, MMP9, NOP56, OVOL2, PCK1, PIGT, PLCB4, POFUT1, PROKR2, PTGIS, RBCK1, RIN2, RTEL1, SALL4, SLC12A5, SLC17A9, SLC4A11, SLC52A3, SRC, STX16, SUN5, TGM3, TGM6, TUBB1, ZNF335, ZNF341,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ARFGEF2 Periventricular heterotopia with microcephaly, 608097 (3)
ASXL1 Bohring-Opitz syndrome, 605039 (3)
Myelodysplastic syndrome, somatic, 614286 (3)
AURKA {Colon cancer, susceptibility to}, 114500 (3)
BFSP1 Cataract 33, multiple types, 611391 (3)
CHRNA4 {Nicotine addiction, susceptibility to}, 188890 (3)
Epilepsy, nocturnal frontal lobe, 1, 600513 (3)
COL9A3 {Intervertebral disc disease, susceptibility to}, 603932 (3)
Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)
CST3 Cerebral amyloid angiopathy, 105150 (3)
{Macular degeneration, age-related, 11}, 611953 (3)
CYP24A1 Hypercalcemia, infantile, 1, 143880 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
EEF1A2 Epileptic encephalopathy, early infantile, 33, 616409 (3)
Mental retardation, autosomal dominant 38, 616393 (3)
ELMO2 Vascular malformation, primary intraosseous, 606893 (3)
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)
GATA5 Congenital heart defects, multiple types, 5, 617912 (3)
GDF5 Brachydactyly, type A1, C, 615072 (3)
Brachydactyly, type A2, 112600 (3)
Brachydactyly, type C, 113100 (3)
Chondrodysplasia, Grebe type, 200700 (3)
{Osteoarthritis-5}, 612400 (3)
Du Pan syndrome, 228900 (3)
Multiple synostoses syndrome 2, 610017 (3)
?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3)
Symphalangism, proximal, 1B, 615298 (3)
GINS1 Immunodeficiency 55, 617827 (3)
GNAS ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
McCune-Albright syndrome, somatic, mosaic 174800 (3)
Osseous heteroplasia, progressive, 166350 (3)
Pituitary adenoma 3, multiple types, somatic, 617686 (3)
Pseudohypoparathyroidism Ia, 103580 (3)
Pseudohypoparathyroidism Ib, 603233 (3)
Pseudohypoparathyroidism Ic, 612462 (3)
Pseudopseudohypoparathyroidism, 612463 (3)
GZF1 Joint laxity, short stature, and myopia, 617662 (3)
IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)
JPH2 Cardiomyopathy, hypertrophic, 17, 613873 (3)
KCNQ2 Epileptic encephalopathy, early infantile, 7, 613720 (3)
Myokymia, 121200 (3)
Seizures, benign neonatal, 1, 121200 (3)
MGME1 Mitochondrial DNA depletion syndrome 11, 615084 (3)
MMP9 Metaphyseal anadysplasia 2, 613073 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
OVOL2 Corneal dystrophy, posterior polymorphous, 1, 122000 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
PLCB4 Auriculocondylar syndrome 2, 614669 (3)
POFUT1 Dowling-Degos disease 2, 615327 (3)
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)
PTGIS Hypertension, essential, 145500 (3)
RBCK1 Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
RTEL1 Dyskeratosis congenita, autosomal dominant 4, 615190 (3)
Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)
SALL4 IVIC syndrome, 147750 (3)
Duane-radial ray syndrome, 607323 (3)
SLC12A5 Epileptic encephalopathy, early infantile, 34, 616645 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3)
SLC17A9 Porokeratosis 8, disseminated superficial actinic type, 616063 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
SLC52A3 Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
?Fazio-Londe disease, 211500 (3)
SRC Colon cancer, advanced, somatic, 114500 (3)
?Thrombocytopenia 6, 616937 (3)
STX16 Pseudohypoparathyroidism, type IB, 603233 (3)
SUN5 Spermatogenic failure 16, 617187 (3)
TGM3 ?Uncombable hair syndrome 2, 617251 (3)
TGM6 Spinocerebellar ataxia 35, 613908 (3)
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
ZNF335 Microcephaly 10, primary, autosomal recessive, 615095 (3)
ZNF341 Hyper-IgE recurrent infection syndrome 3, autosomal recessive, 618282 (3)

Genes at Clinical Genomics Database

ABHD12, ADA, ARFGEF2, ASXL1, BFSP1, CHRNA4, COL9A3, CST3, CYP24A1, DNMT3B, EEF1A2, FLRT3, GDF5, GNAS, JPH2, KCNQ2, MGME1, MMP9, NOP56, OVOL2, PIGT, PLCB4, POFUT1, PROKR2, RBCK1, RIN2, RTEL1, SALL4, SLC12A5, SLC17A9, SLC4A11, SLC52A3, SRC, STX16, TGM6, TUBB1, ZNF335,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ARFGEF2 Heterotopia, periventricular, autosomal recessive
ASXL1 Bohring-Opitz syndrome
BFSP1 Cataract, cortical, juvenile-onset
CHRNA4 Epilepsy, nocturnal frontal lobe, type 1
COL9A3 Epiphyseal dysplasia, multiple, 3
CST3 Cerebral amyloid angiopathy
CYP24A1 1,25(OH)(2)D-24-hydroxylase deficiency
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
EEF1A2 Epileptic encephalopathy, early infantile, 33
Mental retardation, autosomal dominant 28
FLRT3 Hypogonadotropic hypogonadism 21, with or without anosmia
GDF5 Acromesomelic dysplasia, Hunter-Thompson type
Fibular hypoplasia and complex brachydactyly
Multiple synostoses syndrome 2
Chondrodysplasia, Grebe type
Symphalangism, proximal 1B
Brachydactyly, type A1
Brachydactyly, type A1, C
Brachydactyly, type A2
Brachydactyly, type C
GNAS Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
JPH2 Cardiomyopathy, familial hypertrophic 17
KCNQ2 Epileptic encephalopathy, early infantile, 7
Benign familial neonatal seizures, 1
Myokymia
MGME1 Mitochondrial DNA depletion syndrome 11
MMP9 Metaphyseal anadysplasia 2
NOP56 Spinocerebellar ataxia 36
OVOL2 Corneal dystrophy, posterior polymorphous, 1
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3
PLCB4 Auriculocondylar syndrome 2
POFUT1 Dowling-Degos disease 2
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
RBCK1 Polyglucosan body myopathy 1
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis
RTEL1 Pulmonary fibrosis and/or bone marrow failure, telomere-related 3
Dyskeratosis congenita, autosomal dominant 4
Dyskeratosis congenita, autosomal recessive 5
SALL4 Duane-radial ray/Okohiro syndrome
Acro-Renal-Ocular syndrome
SLC12A5 Epileptic encephalopathy, early infantile, 34
SLC17A9 Porokeratosis, disseminated superficial actinic, 8
SLC4A11 Cryohydrocytosis
SLC52A3 Brown-Vialetto-Van Laere syndrome 1
Fazio-Londe disease
SRC Thrombocytopenia, autosomal dominant, 6
STX16 Pseudohypoparathyroidism, type IB
TGM6 Spinocerebellar ataxia 35
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related
ZNF335 Microcephaly 10, primary, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 1731
Number of Genes: 251

Export to: CSV

ABHD12

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 fpd-aix-mes-312-12 20 rs10966
dbSNP Clinvar
25282944 4196.0 A G PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.54153 0.54150 0.44141 None None None None None None ABHD12|0.092039068|52.8%
View fpd-aix-mes-312-12 20 rs6107027
dbSNP Clinvar
25288632 48611.0 G A PASS 0/1 354 SYNONYMOUS_CODING LOW None 0.33606 0.33610 0.43465 None None None None None None ABHD12|0.092039068|52.8%

ACSS2

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 fpd-aix-mes-312-12 20 rs4911163
dbSNP Clinvar
33470694 14473.0 C T PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.51218 0.51220 0.43434 None None None None None None ACSS2|0.488270454|16.4%

ACTR5

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 fpd-aix-mes-312-12 20 rs2245231
dbSNP Clinvar
37396120 9310.0 A G PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.43331 0.43330 0.44157 0.40 0.00 None None None None None None ACTR5|0.119979077|47.44%

ADA

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 fpd-aix-mes-312-12 20 rs394105
dbSNP Clinvar
43264927 10492.0 C T PASS 1/1 44 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%

ADAM33

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 fpd-aix-mes-312-12 20 rs2280090
dbSNP Clinvar
3650205 797.0 G A AltDepth 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.14437 0.14440 0.13559 0.10 0.01 None None None None None None ADAM33|0.021575059|73.4%
View fpd-aix-mes-312-12 20 rs2280091
dbSNP Clinvar
3650234 1027.0 A G PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.13419 0.13420 0.13396 0.28 0.02 None None None None None None ADAM33|0.021575059|73.4%
View fpd-aix-mes-312-12 20 rs528557
dbSNP Clinvar
3651742 3315.0 C G PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.38778 0.38780 0.38944 None None None None None None ADAM33|0.021575059|73.4%
View fpd-aix-mes-312-12 20 rs2271511
dbSNP Clinvar
3654433 416.0 C T AltDepth 0/1 6 SYNONYMOUS_CODING LOW None 0.27536 0.27540 0.21291 None None None None None None ADAM33|0.021575059|73.4%

ADRM1

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 fpd-aix-mes-312-12 20 rs2427273
dbSNP Clinvar
60881330 16045.0 G A PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.81789 0.81790 0.16377 None None None None None None ADRM1|0.222122669|34.19%
View fpd-aix-mes-312-12 20 rs2427275
dbSNP Clinvar
60881780 38742.0 T C PASS 1/1 114 SYNONYMOUS_CODING LOW None 0.96286 0.96290 0.03147 None None None None None None ADRM1|0.222122669|34.19%

ANGPT4

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 fpd-aix-mes-312-12 20 rs944110
dbSNP Clinvar
854940 3352.0 T C PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.51298 0.51300 0.39090 None None None None None None ANGPT4|0.024319862|72.08%

ANKRD60

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 fpd-aix-mes-312-12 20 rs584855
dbSNP Clinvar
56793706 5031.0 G A PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.67652 0.67650 0.21397 0.04 0.93 None None None None None None ANKRD60|0.001529196|92.64%
View fpd-aix-mes-312-12 20 rs1192511
dbSNP Clinvar
56793764 4664.0 G A PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.67672 0.67670 0.21397 None None None None None None ANKRD60|0.001529196|92.64%

APCDD1L

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 fpd-aix-mes-312-12 20 rs3946003
dbSNP Clinvar
57045765 12241.0 A G PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.46086 0.46090 0.40602 1.00 0.00 None None None None None None APCDD1L|0.016982669|75.86%
View fpd-aix-mes-312-12 20 rs1980576
dbSNP Clinvar
57045667 9879.0 T C PASS 0/1 86 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.45986 0.45990 0.43048 None None None None None None APCDD1L|0.016982669|75.86%

ARFGEF2

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 fpd-aix-mes-312-12 20 rs2295580
dbSNP Clinvar
47626847 1841.0 T C PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.35423 0.35420 0.40389 None None None None None None ARFGEF2|0.303924468|27.35%

ARHGAP40

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 fpd-aix-mes-312-12 20 rs6070809
dbSNP Clinvar
37257590 6317.0 C G PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.36597 None None None None None None ARHGAP40|0.014368541|77.58%
View fpd-aix-mes-312-12 20 rs141476666
dbSNP Clinvar
37267979 1319.0 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.00110 0.00 1.00 None None None None None None ARHGAP40|0.014368541|77.58%

ASXL1

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 fpd-aix-mes-312-12 20 rs62206933
dbSNP Clinvar
31023500 1175.0 C T PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.04014 0.04014 0.01822 None None None None None None ASXL1|0.399812505|20.78%

ATP9A

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 fpd-aix-mes-312-12 20 rs2255341
dbSNP Clinvar
50287736 6234.0 C T PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.46555 None None None None None None ATP9A|0.17091233|40.18%
View fpd-aix-mes-312-12 20 rs2255342
dbSNP Clinvar
50287790 8964.0 A G PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.70407 0.70410 0.26749 None None None None None None ATP9A|0.17091233|40.18%

ATRN

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 fpd-aix-mes-312-12 20 rs235540
dbSNP Clinvar
3564672 12308.0 C T PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.82448 0.82450 0.26895 None None None None None None ATRN|0.348885303|24.22%
View fpd-aix-mes-312-12 20 rs2246808
dbSNP Clinvar
3624830 8677.0 G A PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.38259 0.38260 0.44987 None None None None None None ATRN|0.348885303|24.22%

AURKA

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 fpd-aix-mes-312-12 20 rs1047972
dbSNP Clinvar
54961463 23524.0 T C PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.84984 0.84980 0.16223 1.00 0.00 None None None None None None AURKA|0.191109207|37.7%

B4GALT5

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 fpd-aix-mes-312-12 20 rs421801
dbSNP Clinvar
48257149 38042.0 C T PASS 1/1 132 SYNONYMOUS_CODING LOW None 0.81010 0.81010 0.18976 None None None None None None B4GALT5|0.192081933|37.58%
View fpd-aix-mes-312-12 20 rs2235855
dbSNP Clinvar
48259034 9094.0 A G PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.44669 0.44670 0.47709 None None None None None None B4GALT5|0.192081933|37.58%

BANF2

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 fpd-aix-mes-312-12 20 rs1053993
dbSNP Clinvar
17716416 3573.0 C G PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.39237 0.39240 0.34853 0.40 0.00 None None None None None None BANF2|0.055467464|61.07%
View fpd-aix-mes-312-12 20 rs4814640
dbSNP Clinvar
17705677 14595.0 A G PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.94329 0.94330 0.06459 0.20 0.00 None None None None None None BANF2|0.055467464|61.07%

BCAS1

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 fpd-aix-mes-312-12 20 rs35575210
dbSNP Clinvar
52573971 6180.0 T G PASS 0/1 181 None None None 0.13219 0.13220 0.14224 0.11 0.18 None None None None None None BCAS1|0.015654771|76.67%
View fpd-aix-mes-312-12 20 rs1055246
dbSNP Clinvar
52561469 4819.0 A G PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.12999 0.13000 0.12079 0.00 1.00 None None None None None None BCAS1|0.015654771|76.67%

BFSP1

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 fpd-aix-mes-312-12 20 rs6136118
dbSNP Clinvar
17475217 1497.0 C T PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.33946 0.33950 0.26803 None None None None None None BFSP1|0.019258664|74.54%
View fpd-aix-mes-312-12 20 rs6080719
dbSNP Clinvar
17477592 5242.0 C T PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.26737 0.26740 0.16797 0.85 0.00 None None None None None None BFSP1|0.019258664|74.54%
View fpd-aix-mes-312-12 20 rs6080717
dbSNP Clinvar
17474791 7881.0 G A PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.20587 0.20590 0.27649 None None None None None None BFSP1|0.019258664|74.54%
View fpd-aix-mes-312-12 20 rs6080718
dbSNP Clinvar
17474968 10094.0 T C PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.00300 0.00300 0.25988 None None None None None None BFSP1|0.019258664|74.54%

BIRC7

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 fpd-aix-mes-312-12 20 rs6010878
dbSNP Clinvar
61869607 1347.0 C A AltDepth 0/1 11 None None None 0.66414 0.66410 1.00 0.00 None None None None None None BIRC7|0.003576281|87.65%
View fpd-aix-mes-312-12 20 rs1077019
dbSNP Clinvar
61870727 2401.0 G C PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.24661 0.24660 0.19725 0.65 0.00 None None None None None None BIRC7|0.003576281|87.65%

BPI

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 fpd-aix-mes-312-12 20 rs1341024
dbSNP Clinvar
36932676 5479.0 G C PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.43003 None None None None None None BPI|0.001345673|93.63%
View fpd-aix-mes-312-12 20 rs4358188
dbSNP Clinvar
36946848 11280.0 G A PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.43510 0.43510 0.49531 1.00 0.00 None None None None None None BPI|0.001345673|93.63%
View fpd-aix-mes-312-12 20 rs10446011
dbSNP Clinvar
36919758 3195.0 A G PASS 0/1 69 None None None 0.17851 0.17850 None None None None None None BPI|0.001345673|93.63%
View fpd-aix-mes-312-12 20 rs1341023
dbSNP Clinvar
36932660 4378.0 C T PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.43131 0.43130 0.42742 0.01 0.10 None None None None None None BPI|0.001345673|93.63%

BPIFB1

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 fpd-aix-mes-312-12 20 rs1999663
dbSNP Clinvar
31897554 12047.0 G C PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.67532 0.67530 0.43219 0.61 0.00 None None None None None None BPIFB1|0.002984777|88.67%
View fpd-aix-mes-312-12 20 rs1078761
dbSNP Clinvar
31876681 5317.0 A G PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.33007 0.33010 0.34154 0.09 0.06 None None None None None None BPIFB1|0.002984777|88.67%

BPIFB2

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 fpd-aix-mes-312-12 20 rs17124003
dbSNP Clinvar
31609581 3485.0 C T PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.32029 0.32030 0.33777 None None None None None None BPIFB2|0.006724294|83.8%

BPIFB3

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 fpd-aix-mes-312-12 20 rs4911290
dbSNP Clinvar
31652292 7580.0 G A PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.49002 0.49000 0.35276 0.02 0.18 None None None None None None BPIFB3|0.02436257|72.06%
View fpd-aix-mes-312-12 20 rs6057717
dbSNP Clinvar
31656632 7356.0 C G PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.48203 0.48200 0.34069 0.17 0.11 None None None None None None BPIFB3|0.02436257|72.06%
View fpd-aix-mes-312-12 20 rs117989719
dbSNP Clinvar
31652315 1234.0 G C PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.00319 0.00320 0.00730 0.01 0.99 None None None None None None BPIFB3|0.02436257|72.06%

BPIFB4

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 fpd-aix-mes-312-12 20 rs4339026
dbSNP Clinvar
31671599 2412.0 A G PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.23323 0.23320 0.24007 0.04 0.25 None None None None None None BPIFB4|0.029100431|69.82%
View fpd-aix-mes-312-12 20 rs2424945
dbSNP Clinvar
31671663 4069.0 T C PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.37919 0.37920 0.41843 None None None None None None BPIFB4|0.029100431|69.82%
View fpd-aix-mes-312-12 20 rs144729538
dbSNP Clinvar
31671318 554.0 T C PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.01358 0.01358 0.01422 None None None None None None BPIFB4|0.029100431|69.82%
View fpd-aix-mes-312-12 20 rs13036385
dbSNP Clinvar
31671209 1234.0 G C PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.21566 0.21570 0.22713 0.00 0.97 None None None None None None BPIFB4|0.029100431|69.82%
View fpd-aix-mes-312-12 20 rs2070325
dbSNP Clinvar
31673846 6014.0 A G PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.46546 0.46550 0.32946 0.02 0.42 None None None None None None BPIFB4|0.029100431|69.82%
View fpd-aix-mes-312-12 20 rs2889732
dbSNP Clinvar
31676804 5973.0 A C PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.55152 0.55150 0.42134 0.04 0.68 None None None None None None BPIFB4|0.029100431|69.82%
View fpd-aix-mes-312-12 20 rs2070326
dbSNP Clinvar
31678534 2080.0 T C PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.21765 0.21770 0.21975 None None None None None None BPIFB4|0.029100431|69.82%
View fpd-aix-mes-312-12 20 rs11699009
dbSNP Clinvar
31688241 5540.0 T C PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.51578 0.51580 0.36445 1.00 0.00 None None None None None None BPIFB4|0.029100431|69.82%
View fpd-aix-mes-312-12 20 rs11696307
dbSNP Clinvar
31688260 4740.0 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.47264 0.47260 0.40797 0.17 0.00 None None None None None None BPIFB4|0.029100431|69.82%

BPIFB6

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 fpd-aix-mes-312-12 20 rs2070317
dbSNP Clinvar
31622083 7033.0 G A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.56909 0.56910 0.48831 1.00 0.00 None None None None None None BPIFB6|0.017668453|75.5%
View fpd-aix-mes-312-12 20 rs4911287
dbSNP Clinvar
31627291 5531.0 A G PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.60643 0.60640 0.48470 1.00 0.00 None None None None None None BPIFB6|0.017668453|75.5%
View fpd-aix-mes-312-12 20 rs151289682
dbSNP Clinvar
31624252 1006.0 C A PASS 0/1 60 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00659 0.00659 0.00715 0.25 0.03 None None None None None None BPIFB6|0.017668453|75.5%

C20orf166

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 fpd-aix-mes-312-12 20 rs6143064
dbSNP Clinvar
61167883 1428.0 G A PASS 0/1 32 SYNONYMOUS_STOP LOW None 0.26358 0.26360 0.29365 None None None None None None MIR1-1HG|0.000293671|99.44%
View fpd-aix-mes-312-12 20 rs6062251
dbSNP Clinvar
61162267 16600.0 T C PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.57668 0.57670 0.36851 1.00 0.00 None None None None None None MIR1-1HG|0.000293671|99.44%

C20orf173

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 fpd-aix-mes-312-12 20 rs7261862
dbSNP Clinvar
34116282 1047.0 T C PASS 0/1 34 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.22764 0.22760 0.20521 1.00 0.00 None None None None None None C20orf173|0.002190655|90.45%

C20orf194

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 fpd-aix-mes-312-12 20 rs61734536
dbSNP Clinvar
3251172 1294.0 G A PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00202 0.24 0.00 None None None None None None C20orf194|0.217196802|34.71%
View fpd-aix-mes-312-12 20 rs2254916
dbSNP Clinvar
3285126 8142.0 A T PASS 0/1 113 SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.23607 None None None None None None C20orf194|0.217196802|34.71%
View fpd-aix-mes-312-12 20 rs2422864
dbSNP Clinvar
3285140 16325.0 T C PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.93371 0.93370 0.12173 1.00 0.00 None None None None None None C20orf194|0.217196802|34.71%

C20orf201

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 fpd-aix-mes-312-12 20 rs4431000
dbSNP Clinvar
62715548 798.0 C A PASS 1/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.48463 0.48460 0.33617 0.00 0.97 None None None None None None OPRL1|0.253276549|31.26%,LKAAEAR1|0.00333726|88.03%

C20orf26

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 fpd-aix-mes-312-12 20 rs200183
dbSNP Clinvar
20050397 20672.0 G A PASS 0/1 155 None None None 0.78415 0.78410 0.00 None None None None None None CFAP61|0.103943105|50.42%
View fpd-aix-mes-312-12 20 rs2424317
dbSNP Clinvar
20257958 5992.0 C T PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.13399 0.13400 0.20560 None None None None None None CFAP61|0.103943105|50.42%
View fpd-aix-mes-312-12 20 rs6075614
dbSNP Clinvar
20079360 5262.0 A G PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.06270 0.06270 0.10757 0.41 0.04 None None None None None None CFAP61|0.103943105|50.42%
View fpd-aix-mes-312-12 20 rs6081901
dbSNP Clinvar
20144772 6776.0 G A PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.45887 0.45890 0.44403 0.37 0.00 None None None None None None CFAP61|0.103943105|50.42%
View fpd-aix-mes-312-12 20 rs6075630
dbSNP Clinvar
20150027 13430.0 C T PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.13978 0.13980 0.19714 None None None None None None CFAP61|0.103943105|50.42%

C20orf96

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 fpd-aix-mes-312-12 20 rs7271033
dbSNP Clinvar
259969 3754.0 G C PASS 1/1 35 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.66853 0.66850 0.36299 None None None None None None C20orf96|0.00266282|89.34%
View fpd-aix-mes-312-12 20 rs2277781
dbSNP Clinvar
257733 4296.0 A G PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.64717 0.64720 0.32424 None None None None None None C20orf96|0.00266282|89.34%
View fpd-aix-mes-312-12 20 rs3827147
dbSNP Clinvar
256727 12373.0 T A PASS 1/1 86 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63518 0.63520 0.34553 1.00 0.00 None None None None None None C20orf96|0.00266282|89.34%

CABLES2

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 fpd-aix-mes-312-12 20 rs6089219
dbSNP Clinvar
60966318 20525.0 G T PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.90256 0.90260 0.05521 1.00 0.00 None None None None None None CABLES2|0.058513615|60.25%
View fpd-aix-mes-312-12 20 rs146975578
dbSNP Clinvar
60982024 1686.0 C T PASS 0/1 13 SYNONYMOUS_CODING LOW None 0.12720 0.12720 0.15849 None None None None None None CABLES2|0.058513615|60.25%
View fpd-aix-mes-312-12 20 rs13042761
dbSNP Clinvar
60966374 2463.0 G C PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.08926 0.08926 0.10787 None None None None None None CABLES2|0.058513615|60.25%

CASS4

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 fpd-aix-mes-312-12 20 rs2870738
dbSNP Clinvar
55028167 8590.0 G A PASS 1/1 79 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.26576 None None None None None None CASS4|0.007706606|82.84%
View fpd-aix-mes-312-12 20 rs3746623
dbSNP Clinvar
55033476 8368.0 C G PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.52596 0.52600 0.36191 None None None None None None CASS4|0.007706606|82.84%
View fpd-aix-mes-312-12 20 rs3746624
dbSNP Clinvar
55033635 3553.0 C T PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.36861 0.36860 0.26019 None None None None None None CASS4|0.007706606|82.84%
View fpd-aix-mes-312-12 20 rs3746625
dbSNP Clinvar
55033647 3436.0 T C PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.52576 0.52580 0.36160 None None None None None None CASS4|0.007706606|82.84%
View fpd-aix-mes-312-12 20 rs3746626
dbSNP Clinvar
55033713 2068.0 G A PASS 1/1 12 SYNONYMOUS_CODING LOW None 0.52556 0.52560 0.36025 None None None None None None CASS4|0.007706606|82.84%

CBFA2T2

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 fpd-aix-mes-312-12 20 rs75180889
dbSNP Clinvar
32228315 605.0 A G PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00408 0.05 0.02 None None None None None None CBFA2T2|0.275255923|29.51%
View fpd-aix-mes-312-12 20 rs3803939
dbSNP Clinvar
32212690 12491.0 C T PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.66913 0.66910 0.41796 None None None None None None CBFA2T2|0.275255923|29.51%

CD93

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 fpd-aix-mes-312-12 20 rs3746731
dbSNP Clinvar
23065209 4615.0 G A PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.54113 0.54110 0.49908 0.17 0.09 None None None None None None CD93|0.003918213|87.15%
View fpd-aix-mes-312-12 20 rs3746732
dbSNP Clinvar
23065342 6185.0 A G PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.77975 0.77980 0.24642 None None None None None None CD93|0.003918213|87.15%

CDC25B

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 fpd-aix-mes-312-12 20 rs1056720
dbSNP Clinvar
3784110 4140.0 C T PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.23003 0.23000 0.20498 None None None None None None CDC25B|0.242518934|32.24%

CDH4

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 fpd-aix-mes-312-12 20 rs6142884
dbSNP Clinvar
60503350 40781.0 A G PASS 0/1 235 NON_SYNONYMOUS_CODING MODERATE None 0.56729 0.56730 0.44802 1.00 0.00 None None None None None None CDH4|0.197684425|36.97%
View fpd-aix-mes-312-12 20 rs34937312
dbSNP Clinvar
60348084 1523.0 C T PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.01857 0.01857 0.03368 0.36 0.00 None None None None None None CDH4|0.197684425|36.97%
View fpd-aix-mes-312-12 20 rs139577432
dbSNP Clinvar
60485640 1181.0 G A PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.00015 0.01 0.76 None None None None None None CDH4|0.197684425|36.97%
View fpd-aix-mes-312-12 20 rs2427240
dbSNP Clinvar
60485627 16566.0 C T PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.70487 0.70490 0.17000 None None None None None None CDH4|0.197684425|36.97%
View fpd-aix-mes-312-12 20 rs3753045
dbSNP Clinvar
60509209 16374.0 C T PASS 0/1 155 SYNONYMOUS_CODING LOW None 0.16134 0.16130 0.18714 None None None None None None CDH4|0.197684425|36.97%

CDK5RAP1

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 fpd-aix-mes-312-12 20 rs291700
dbSNP Clinvar
31981849 6345.0 T C PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.59565 0.59560 0.36552 None None None None None None CDK5RAP1|0.141646377|44.19%

CEBPB

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 fpd-aix-mes-312-12 20 rs4253439
dbSNP Clinvar
48808011 666.0 C T PASS 1/1 2 SYNONYMOUS_CODING LOW None 0.36981 0.36980 0.33705 None None None None None None CEBPB|0.637441971|10.54%

CEP250

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 fpd-aix-mes-312-12 20 rs61729988
dbSNP Clinvar
34092213 570.0 G A PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.00300 0.00300 0.00577 0.17 0.04 None None None None None None CEP250|0.102943293|50.61%
View fpd-aix-mes-312-12 20 rs224362
dbSNP Clinvar
34062642 6570.0 C T PASS 0/1 116 None None None 0.42752 0.42750 None None None None None None CEP250|0.102943293|50.61%
View fpd-aix-mes-312-12 20 rs3748433
dbSNP Clinvar
34090519 1511.0 G A PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.13818 0.13820 0.11272 1.00 0.00 None None None None None None CEP250|0.102943293|50.61%

CHGB

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 fpd-aix-mes-312-12 20 rs910122
dbSNP Clinvar
5903323 3501.0 G A PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.41653 0.41650 0.35007 0.33 0.00 None None None None None None CHGB|0.023575586|72.37%
View fpd-aix-mes-312-12 20 rs742711
dbSNP Clinvar
5904040 2225.0 G A PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.23123 0.23120 0.21513 0.86 0.00 None None None None None None CHGB|0.023575586|72.37%
View fpd-aix-mes-312-12 20 rs236153
dbSNP Clinvar
5903894 6100.0 A G PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.51518 0.51520 0.44864 None None None None None None CHGB|0.023575586|72.37%