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Genes:
AC023632.1, ADAM18, ADAM28, ADAM32, ADAM7, ADAM9, ADAMDEC1, ADCK5, ADCY8, ADHFE1, AGO2, ANGPT2, ANK1, ARC, ARHGAP39, ARHGEF10, ASAH1, ASAP1, ASH2L, ATAD2, BAI1, BIN3, BLK, C8orf12, C8orf34, C8orf4, C8orf48, C8orf49, C8orf59, C8orf74, C8orf82, CA2, CA8, CCDC166, CDCA2, CDH17, CHMP4C, CHRNA2, CHRNB3, CLDN23, CLU, CNGB3, CNOT7, COL14A1, COL22A1, COMMD5, CPA6, CPNE3, CPQ, CPSF1, CSGALNACT1, CSMD1, CSMD3, CTHRC1, CYC1, CYHR1, CYP11B1, CYP11B2, DCAF13, DCSTAMP, DEFA4, DEFA5, DEFA6, DEFB104A, DEFB106A, DEFB107A, DEFB136, DEFB4B, DENND3, DEPTOR, DLC1, DLGAP2, DOCK5, DOK2, DPYS, DPYSL2, DSCC1, DUSP4, EBF2, EEF1D, EFR3A, ELP3, ENPP2, ENTPD4, EPPK1, ERI1, ERICH1, ESRP1, EXT1, EYA1, FAM135B, FAM160B2, FAM167A, FAM83H, FAM91A1, FBXO16, FBXO43, FDFT1, FER1L6, FGF20, FGL1, FP15737, FUT10, FZD3, FZD6, GDAP1, GFRA2, GLI4, GNRH1, GOT1L1, GPAA1, GPIHBP1, GPR124, GPR20, GPT, GRINA, GSDMC, GSDMD, HEY1, HGSNAT, HHLA1, HR, HTRA4, IDO2, IMPA1, INTS9, KCNB2, KCNK9, KCNQ3, KCNU1, KIAA1429, KIAA1456, KIAA1875, KIF13B, KIFC2, KLHL38, LAPTM4B, LEPROTL1, LGI3, LONRF1, LOXL2, LRRC14, LRRC24, LRRC69, LRRCC1, LY6K, LY96, LYNX1, LZTS1, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MCPH1, MFHAS1, MFSD3, MROH1, MROH5, MROH6, MSR1, MTBP, MTMR7, MTUS1, MYC, MYOM2, NAPRT1, NAT2, NBN, NDUFB9, NEFM, NKAIN3, NOV, NRBP2, NRG1, NSMAF, NSMCE2, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OTUD6B, OXR1, PABPC1, PAG1, PARP10, PBK, PCM1, PCMTD1, PDGFRL, PDLIM2, PEBP4, PEX2, PHF20L1, PHYHIP, PINX1, PKHD1L1, PLAG1, PLAT, PLEC, PLEKHA2, POLR3D, POU5F1B, PRDM14, PREX2, PRKDC, PRSS55, PSCA, PSD3, PSKH2, PTK2B, PXDNL, PYCRL, R3HCC1, RAB11FIP1, RAB2A, RAD54B, RBM12B-AS1, RECQL4, RGS22, RHOBTB2, RHPN1, RIMS2, RIPK2, RMDN1, RNF122, RP1, RP11-10J21.3, RP11-382J12.1, RP11-422N16.3, RP11-758M4.1, RP1L1, RPL8, SAMD12, SBSPON, SCARA3, SCARA5, SCRIB, SCRT1, SDC2, SFRP1, SFTPC, SGK223, SH2D4A, SHARPIN, SLC10A5, SLC18A1, SLC25A37, SLC26A7, SLC30A8, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC7A2, SLCO5A1, SNTG1, SNX31, SORBS3, SOX7, SPAG1, SPAG11A, SPAG11B, SPATC1, SQLE, ST3GAL1, STAR, STAU2, SYBU, TACC1, TAF2, TBC1D31, TEX15, TG, TGS1, THEM6, TIGD5, TMEM249, TMEM55A, TMEM66, TMEM67, TMEM71, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF11B, TNKS, TONSL, TOP1MT, TP53INP1, TPD52, TRAPPC9, TRIB1, TRPA1, TSNARE1, TSPYL5, TSTA3, TTI2, UBXN2B, UQCRB, UTP23, VPS13B, VPS37A, WDYHV1, WISP1, WRN, XKR9, XPO7, ZC2HC1A, ZC3H3, ZFAT, ZFP41, ZHX2, ZMAT4, ZNF16, ZNF250, ZNF34, ZNF395, ZNF517, ZNF572, ZNF623, ZNF696, ZNF7, ZNF704, ZNF707,

Genes at Omim

ADAM9, ANK1, ARHGEF10, ASAH1, BLK, CA2, CA8, CHRNA2, CNGB3, CPA6, CTHRC1, CYC1, CYP11B1, CYP11B2, DLC1, DPYS, EXT1, EYA1, FAM83H, FGF20, FZD6, GDAP1, GNRH1, GPIHBP1, HGSNAT, HR, KCNK9, KCNQ3, LZTS1, MCM4, MCPH1, MFHAS1, MSR1, MYC, NAT2, NBN, NDUFB9, NRG1, OPLAH, PDGFRL, PEX2, PLAG1, PLAT, PRKDC, RAD54B, RECQL4, RP1, RP1L1, SFTPC, SLC30A8, SLC39A14, SLC39A4, SPAG1, STAR, TAF2, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, UQCRB, VPS13B, VPS37A,
ADAM9 Cone-rod dystrophy 9, 612775 (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)
BLK Maturity-onset diabetes of the young, type 11, 613375 (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)
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CNGB3 Achromatopsia-3, 262300 (3)
Macular degeneration, juvenile, 248200 (3)
CPA6 Epilepsy, familial temporal lobe, 5, 614417 (3)
Febrile seizures, familial, 11, 614418 (3)
CTHRC1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
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)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
{Low renin hypertension, susceptibility to} (3)
DLC1 Colorectal cancer, somatic, 114500 (3)
DPYS Dihydropyrimidinuria, 222748 (3)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (3)
EYA1 ?Otofaciocervical syndrome, 166780 (3)
Anterior segment anomalies with or without cataract, 113650 (3)
Branchiootic syndrome 1, 602588 (3)
Branchiootorenal syndrome 1, with or without cataracts, 113650 (3)
FAM83H Amelogenesis imperfecta, type III, 130900 (3)
FGF20 ?Renal hypodysplasia/aplasia 2, 615721 (3)
FZD6 Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3)
GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)
Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Charcot-Marie-Tooth disease, type 4A, 214400 (3)
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, type 2, 121201 (3)
LZTS1 Esophageal squamous cell carcinoma, 133239 (3)
MCM4 Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3)
MCPH1 Microcephaly 1, primary, autosomal recessive, 251200 (3)
MFHAS1 Malignant fibrous histiocytoma (2)
MSR1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
Prostate cancer, hereditary, 176807 (3)
MYC Burkitt lymphoma, 113970 (3)
NAT2 [Acetylation, slow], 243400 (3)
NBN Aplastic anemia, 609135 (3)
Leukemia, acute lymphoblastic, 613065 (3)
Nijmegen breakage syndrome, 251260 (3)
NDUFB9 ?Mitochondrial complex I deficiency, 252010 (3)
NRG1 {?Schizophrenia, susceptibility to}, 603013 (1)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PDGFRL Colorectal cancer, somatic, 114500 (3)
Hepatocellular cancer, somatic, 114550 (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)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RAD54B Colon cancer, somatic, 114500 (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RP1 Retinitis pigmentosa 1, 180100 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
SFTPC Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)
SLC30A8 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (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)
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)
{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, 615040 (3)
TTI2 Mental retardation, autosomal recessive 39, 615541 (3)
UQCRB Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)
VPS13B Cohen syndrome, 216550 (3)
VPS37A Spastic paraplegia 53, autosomal recessive, 614898 (3)

Genes at Clinical Genomics Database

ADAM9, ANK1, ARHGEF10, ASAH1, BLK, CA2, CA8, CHRNA2, CNGB3, CPA6, CTHRC1, CYC1, CYP11B1, CYP11B2, DPYS, EXT1, EYA1, FAM83H, FGF20, FZD6, GDAP1, GNRH1, GPIHBP1, HGSNAT, HR, KCNK9, KCNQ3, MCM4, MCPH1, MSR1, NAT2, NBN, OPLAH, PEX2, PLEC, PRKDC, RECQL4, RP1, RP1L1, SFTPC, SLC39A4, STAR, TAF2, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, UQCRB, VPS13B, VPS37A, WRN,
ADAM9 Cone-rod dystrophy 9
ANK1 Spherocytosis, hereditary 1
ARHGEF10 Slowed nerve conduction velocity, autosomal dominant (Hereditary motor and sensory neuropathy)
ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy
Farber lipogranulomatosis
BLK Maturity-onset diabetes of the young, type 11
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4
CNGB3 Macular degeneration, juvenile
Achromatopsia 3
CPA6 Epilepsy, familial temporal lobe, 5
Febrile seizures, familial, 11
CTHRC1 Barrett esophagus/Esophageal adenocarcinoma
CYC1 Mitochondrial complex III deficiency, nuclear type
CYP11B1 Glucocorticoid-remediable aldosteronism
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
CYP11B2 Glucocorticoid-remediable aldosteronism
Corticosterone methyloxidase type II deficiency
Corticosterone methyloxidase type I deficiency
DPYS Dihydropyriminidase deficiency
EXT1 Exostoses, multiple, type 1
EYA1 Otofaciocervical syndrome 1
Branchiootorenal syndrome 1
Branchiootic syndrome 1
FAM83H Amelogenesis imperfecta, type 3
FGF20 Renal hypodysplasia/aplasia 2
FZD6 Nail disorder, nonsyndromic noncongenital 10
GDAP1 Charcot-Marie-Tooth disease, type 4A
Charcot-Marie-Tooth disease, axonal, type 2K
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
Charcot-Marie-Tooth disease, recessive intermediate, A
GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia
GPIHBP1 Hyperlipoproteinemia, type ID
HGSNAT Retinitis pigmentosa 73
Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)
HR Alopecia universalis congenita
Atrichia with papular lesions
Hypotrichosis 4
KCNK9 Birk-Barel mental retardation dysmorphism syndrome
KCNQ3 Seizures, benign neonatal, 2
MCM4 Natural killer cell and glucocorticoid deficiency with DNA repair defect
MCPH1 Microcephaly, primary autosomal recessive, 1
MSR1 Prostate cancer
Barrett esophagus/esophageal adenocarcinoma
NAT2 Acetylation, NAT2-related
NBN Nijmegen breakage syndrome
Breast cancer, susceptibility to
OPLAH 5-oxoprolinase deficiency
PEX2 Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 5A
PLEC Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Muscular dystrophy, limb-girdle, type 2Q
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RECQL4 Rothmund-Thomson syndrome
RAPADILINO syndrome
Baller-Gerold syndrome
RP1 Retinitis pigmentosa 1, autosomal recessive
Retinitis pigmentosa 1, autosomal dominant
RP1L1 Retinitis pigmentosa, autosomal recessive
Occult macular dystrophy
SFTPC Surfactant metabolism dysfunction, pulmonary, 2
SLC39A4 Acrodermatitis enteropathica
STAR Lipoid adrenal hyperplasia
TAF2 Mental retardation, autosomal recessive 40
TG Thyroid dyshormonogenesis 3
TMEM67 COACH syndrome
Joubert syndrome 6
Meckel syndrome 3
Nephronophthisis 11
TNFRSF10B Squamous cell carcinoma, head and neck
TNFRSF11B Paget disease of bone 5, juvenile
TRAPPC9 Mental retardation, autosomal recessive 13
TRPA1 Episodic pain syndrome, familial
TTI2 Mental retardation, autosomal recessive 39
UQCRB Mitochondrial complex III deficiency
VPS13B Cohen syndrome
VPS37A Spastic paraplegia 53, autosomal recessive
WRN Werner syndrome

Genes at HGMD

Summary

Number of Variants: 5026
Number of Genes: 331

Export to: CSV

AC023632.1

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 mm170241ct 8 rs3133651
dbSNP
95559092 10158.77 T C . 1/1 293 SYNONYMOUS_CODING LOW SILENT 0.68171 0.68170 None None None None None None None

ADAM18

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs12708194
dbSNP
39496029 1052.77 T C . 0/1 110 SYNONYMOUS_CODING LOW SILENT 0.58846 0.58850 0.30568 None None None None None None None

ADAM28

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs7814768
dbSNP
24211331 5948.77 G A . 1/1 170 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96705 0.96710 0.02169 1.00 0.00 None None None None None None None

ADAM32

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs7845771
dbSNP
39080632 4087.77 C G . 1/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95827 0.95830 0.03848 1.00 0.00 None None None None None None None
View mm170241ct 8 rs4515515
dbSNP
39091526 2435.77 T C . 0/1 210 SYNONYMOUS_CODING LOW SILENT 0.21586 0.21590 0.21119 None None None None None None None
View mm170241ct 8 rs4517088
dbSNP
38964647 331.77 G A . 0/1 27 None None None 0.44549 0.44550 0.01 0.00 None None None None None None None
View mm170241ct 8 rs59118660
dbSNP
38965271 1025.77 C T . 0/1 68 START_GAINED LOW 0.43790 0.43790 0.33230 None None None None None None None

ADAM7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs13277171
dbSNP
24359068 4817.77 G A . 1/1 141 SYNONYMOUS_CODING LOW SILENT 0.26478 0.26480 0.26265 None None None None None None None
View mm170241ct 8 rs13255694
dbSNP
24339679 3055.77 G A . 1/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26138 0.26140 0.26096 0.00 1.00 None None None None None None None
View mm170241ct 8 rs13259668
dbSNP
24356818 6414.77 A C . 1/1 175 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32628 0.32630 0.33046 0.08 0.00 None None None None None None None

ADAM9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs148707472
dbSNP
38854660 184.77 C A . 0/1 14 SYNONYMOUS_CODING LOW SILENT 0.02196 0.02196 0.03892 None None None None None None None

ADAMDEC1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs3765124
dbSNP
24261526 8292.77 A G . 1/1 235 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29493 0.29490 0.34453 0.09 0.10 None None None None None None None
View mm170241ct 8 rs2291577
dbSNP
24256470 4752.77 C T . 1/1 143 SYNONYMOUS_CODING LOW SILENT 0.29293 0.29290 0.34269 None None None None None None None

ADCK5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs148509143,rs563415390
dbSNP
145617534 1028.77 TG... T . 1/1 12 None None None 0.62700 0.62700 0.42097 None None None None None None None
View mm170241ct 8 rs6599528
dbSNP
145603114 1588.77 A C . 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63239 0.63240 0.45824 0.82 0.00 None None None None None None None
View mm170241ct 8 rs7843675
dbSNP
145617910 355.77 A G . 0/1 30 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.11821 0.11820 0.14409 None None None None None None None

ADCY8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs12547243
dbSNP
131921956 1916.77 A G . 0/1 162 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.54473 0.54470 0.42642 None None None None None None None

ADHFE1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs1060242
dbSNP
67380528 3429.77 T C . 1/1 107 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57947 0.57950 0.44349 1.00 0.00 None None None None None None None
View mm170241ct 8 rs2555588
dbSNP
67369355 283.77 G C . 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.13618 0.13620 0.19722 None None None None None None None

AGO2

Omim - GeneCards - NCBI
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View mm170241ct 8 rs2292778
dbSNP
141568622 608.77 G A . 0/1 56 SYNONYMOUS_CODING LOW SILENT 0.65555 0.65560 0.37175 None None None None None None None

ANGPT2

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View mm170241ct 8 rs6559167
dbSNP
6389889 889.77 C G . 0/1 87 SYNONYMOUS_CODING LOW SILENT 0.28974 0.28970 None None None None None None None

ANK1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs504574
dbSNP
41553928 371.77 C G . 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.40715 0.40710 0.36285 None None None None None None None
View mm170241ct 8 rs1137177
dbSNP
41563685 522.77 G A . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.18091 0.18090 0.19637 None None None None None None None
View mm170241ct 8 rs2304880
dbSNP
41559609 492.77 G A . 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.18071 0.18070 0.19622 None None None None None None None

ARC

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs28686812
dbSNP
143694775 1158.77 G C . 1/1 36 SYNONYMOUS_CODING LOW SILENT 0.50060 0.50060 0.49477 None None None None None None None

ARHGAP39

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs139148807
dbSNP
145773165 296.77 C G . 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.00260 0.00260 0.00178 None None None None None None None

ARHGEF10

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs9657362
dbSNP
1833801 1235.77 G C . 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16833 0.16830 0.10810 0.18 0.95 None None None None None None None
View mm170241ct 8 rs2272611
dbSNP
1876631 1400.77 C T . 0/1 101 SYNONYMOUS_CODING LOW SILENT 0.14437 0.14440 0.13655 None None None None None None None
View mm170241ct 8 rs2272608
dbSNP
1900911 221.77 C T . 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.21506 0.21510 0.18392 None None None None None None None

ASAH1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs10103355
dbSNP
17918934 8650.77 A G . 1/1 259 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85024 0.85020 0.13340 0.92 0.00 None None None None None None None
View mm170241ct 8 rs2472205
dbSNP
17924739 1886.77 A T . 0/1 139 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02276 0.02276 0.03437 0.35 0.00 None None None None None None None
View mm170241ct 8 rs1049874
dbSNP
17927327 1858.77 T C . 1/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42053 0.42050 0.42163 0.93 0.00 None None None None None None None
View mm170241ct 8 rs1071645
dbSNP
17928811 4294.77 C T . 1/1 126 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.42053 0.42050 0.42427 0.19 0.00 None None None None None None None
View mm170241ct 8 rs3753115
dbSNP
17930772 5204.77 C T . 1/1 169 None None None 0.41354 0.41350 0.42394 0.33 0.00 None None None None None None None

ASAP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs75375911
dbSNP
131140180 996.77 G A . 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.02276 0.02276 0.01415 None None None None None None None
View mm170241ct 8 rs966185
dbSNP
131124559 553.77 T C . 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47444 0.47440 0.39866 0.86 0.00 None None None None None None None
View mm170241ct 8 rs13265869
dbSNP
131353139 3983.77 T C . 0/1 288 None None None 0.56350 0.56350 None None None None None None None

ASH2L

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs2843740
dbSNP
37985897 2508.77 A G . 1/1 72 SYNONYMOUS_CODING LOW SILENT 0.84804 0.84800 0.08396 None None None None None None None

ATAD2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs16898247
dbSNP
124357253 4529.77 G A . 0/1 260 SYNONYMOUS_CODING LOW SILENT 0.14796 0.14800 0.16216 None None None None None None None
View mm170241ct 8 rs77106954
dbSNP
124360487 1568.77 G A . 0/1 92 SYNONYMOUS_CODING LOW SILENT 0.02097 0.02097 0.02661 None None None None None None None

BAI1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs61755064
dbSNP
143623372 680.77 C A . 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.07208 0.07208 0.03527 None None None None None None None
View mm170241ct 8 rs7460600
dbSNP
143603418 721.77 G C . 1/1 23 SYNONYMOUS_CODING LOW SILENT 0.90375 0.90380 0.09007 None None None None None None None

BIN3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs11550509
dbSNP
22526559 581.77 G A . 0/1 45 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.09884 0.09884 0.18878 None None None None None None None
View mm170241ct 8 rs900268
dbSNP
22482851 1156.77 A C . 1/1 37 None None None 0.99121 0.99120 0.00 0.89 None None None None None None None

BLK

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs2306234
dbSNP
11414237 587.77 T C . 0/1 39 SYNONYMOUS_CODING LOW SILENT 0.82768 0.82770 0.18753 None None None None None None None

C8orf12

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs3021518
dbSNP
11296049 980.77 T A . 0/1 91 STOP_LOST HIGH MISSENSE 0.07927 0.07927 None None None None None None None

C8orf34

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs16935065
dbSNP
69699756 4568.77 G A . 0/1 339 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16833 0.16830 0.18294 0.13 0.09 None None None None None None None

C8orf4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs6474226
dbSNP
40011079 2494.77 G A . 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98662 0.98660 0.01107 0.53 0.00 None None None None None None None

C8orf48

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs13273355
dbSNP
13424583 3458.77 C T . 1/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81210 0.81210 0.20894 1.00 0.00 None None None None None None None
View mm170241ct 8 rs11203497
dbSNP
13425353 5887.77 T A . 1/1 163 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98502 0.98500 0.01533 1.00 0.00 None None None None None None None

C8orf49

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs811966
dbSNP
11619334 3001.77 C T . 1/1 84 SYNONYMOUS_CODING LOW SILENT 0.69828 0.69830 None None None None None None None
View mm170241ct 8 rs804285
dbSNP
11618998 195.84 G C . 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97344 0.97340 1.00 0.00 None None None None None None None
View mm170241ct 8 rs2740431
dbSNP
11619261 2152.77 T A . 1/1 67 SYNONYMOUS_CODING LOW SILENT 0.94329 0.94330 None None None None None None None
View mm170241ct 8 rs809203
dbSNP
11619504 1239.77 T A . 0/1 73 STOP_GAINED HIGH NONSENSE 0.25140 0.25140 None None None None None None None
View mm170241ct 8 rs809204
dbSNP
11619163 504.77 A G . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25160 0.25160 0.00 0.27 None None None None None None None

C8orf59

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs112611553
dbSNP
86126827 9792.73 C CA... . 1/1 119 CODON_INSERTION MODERATE 0.99720 0.99720 0.00399 None None None None None None None

C8orf74

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs11250058
dbSNP
10530218 1420.77 C T . 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99241 0.99240 0.00008 0.33 0.02 None None None None None None None

C8orf82

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs115228909
dbSNP
145754187 175.77 C G . 0/1 17 None None None 0.15575 0.15580 0.12997 None None None None None None None
View mm170241ct 8 rs11557085
dbSNP
145752900 132.77 C T . 0/1 8 SYNONYMOUS_CODING LOW SILENT 0.39417 0.39420 None None None None None None None

CA2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs703
dbSNP
86389403 1102.77 T C . 0/1 61 PROTEIN_INTERACTION_LOCUS HIGH 0.57768 0.57770 0.35691 None None None None None None None

CA8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs7464181
dbSNP
61178574 1137.77 T C . 0/1 81 SYNONYMOUS_CODING LOW SILENT 0.50100 0.50100 0.47178 None None None None None None None

CCDC166

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs148375268
dbSNP
144789840 99.77 T C . 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02316 0.02316 0.00 0.96 None None None None None None None
View mm170241ct 8 rs75368383
dbSNP
144789624 369.77 T C . 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08806 0.08806 0.03 0.68 None None None None None None None

CDCA2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs10108752
dbSNP
25323777 2789.77 T C . 1/1 92 SYNONYMOUS_CODING LOW SILENT 0.95547 0.95550 0.04598 None None None None None None None

CDH17

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs3214050
dbSNP
95186382 407.77 G A . 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.34585 0.34580 0.39013 None None None None None None None
View mm170241ct 8 rs2251734
dbSNP
95158259 2248.77 G A . 0/1 140 SYNONYMOUS_CODING LOW SILENT 0.31210 0.31210 0.32731 None None None None None None None
View mm170241ct 8 rs35792427
dbSNP
95161102 2273.77 G A . 0/1 148 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.12680 0.12680 0.09995 None None None None None None None
View mm170241ct 8 rs1131830
dbSNP
95158382 899.77 C T . 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.43151 0.43150 0.45541 None None None None None None None
View mm170241ct 8 rs1051623
dbSNP
95143186 2382.77 C G . 1/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78395 0.78390 0.16639 0.34 0.00 None None None None None None None
View mm170241ct 8 rs2243518
dbSNP
95188850 2302.77 T C . 1/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80232 0.80230 0.16861 0.52 0.00 None None None None None None None
View mm170241ct 8 rs1051624
dbSNP
95143172 1249.77 T G . 0/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44269 0.44270 0.47363 0.22 0.00 None None None None None None None

CHMP4C

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs35094336
dbSNP
82670771 2144.77 G A . 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04173 0.04173 0.05421 0.01 0.32 None None None None None None None

CHRNA2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs891398
dbSNP
27324822 259.77 T C . 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61022 0.61020 0.41988 1.00 0.00 None None None None None None None
View mm170241ct 8 rs2472553
dbSNP
27328511 1009.77 G A . 0/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22105 0.22100 0.14878 1.00 0.00 None None None None None None None
View mm170241ct 8 rs2565061
dbSNP
27324844 224.77 G A . 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.23782 0.23780 0.16715 None None None None None None None

CHRNB3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs4953
dbSNP
42587659 1491.77 G C . 0/1 97 SYNONYMOUS_CODING LOW SILENT 0.03674 0.03674 0.04208 None None None None None None None
View mm170241ct 8 rs4952
dbSNP
42587065 2545.77 C T . 0/1 173 SYNONYMOUS_CODING LOW SILENT 0.02296 0.02296 0.03152 None None None None None None None

CLDN23

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs12548737
dbSNP
8560536 748.77 G A . 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11362 0.11360 0.07852 0.01 0.88 None None None None None None None
View mm170241ct 8 rs2280560
dbSNP
8560602 1272.77 C T . 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29553 0.29550 0.19371 0.59 0.04 None None None None None None None

CLU

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs7982
dbSNP
27462481 1340.77 A G . 1/1 40 SYNONYMOUS_CODING LOW SILENT 0.66454 0.66450 0.40212 None None None None None None None

CNGB3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs6471482
dbSNP
87679303 2116.77 A C . 1/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95747 0.95750 0.12141 1.00 0.00 None None None None None None None
View mm170241ct 8 rs4961206
dbSNP
87666251 6005.77 T G . 1/1 184 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67971 0.67970 0.35941 0.30 0.01 None None None None None None None

CNOT7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs2959606
dbSNP
17092164 8216.77 G T . 1/1 243 None None None 0.96006 0.96010 None None None None None None None

COL14A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs2305600
dbSNP
121215991 535.77 T C . 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.63838 0.63840 0.43165 None None None None None None None
View mm170241ct 8 rs4870723
dbSNP
121228679 3885.77 A C . 0/1 317 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59006 0.59010 0.48401 0.01 0.45 None None None None None None None
View mm170241ct 8 rs61753754
dbSNP
121239515 667.77 G A . 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.02057 0.02057 0.01799 None None None None None None None
View mm170241ct 8 rs2305598
dbSNP
121210069 2167.77 T C . 0/1 191 SYNONYMOUS_CODING LOW SILENT 0.63439 0.63440 0.42465 None None None None None None None
View mm170241ct 8 rs61733751
dbSNP
121354621 562.77 T C . 0/1 40 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.01737 0.01737 0.01599 None None None None None None None
View mm170241ct 8 rs17833992
dbSNP
121298156 1789.77 G C . 0/1 130 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09764 0.09764 0.15608 0.01 0.03 None None None None None None None
View mm170241ct 8 rs4463470
dbSNP
121383048 677.77 T C . 1/1 22 None None None 0.82668 0.82670 0.01 0.00 None None None None None None None

COL22A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs10091563
dbSNP
139647262 798.77 A G . 0/1 71 SYNONYMOUS_CODING LOW SILENT 0.70986 0.70990 0.26534 None None None None None None None
View mm170241ct 8 rs9644500
dbSNP
139697478 310.77 T C . 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.57867 0.57870 0.45648 None None None None None None None
View mm170241ct 8 rs10101430
dbSNP
139824057 63.77 G A . 0/1 9 SYNONYMOUS_CODING LOW SILENT 0.48063 0.48060 0.49646 None None None None None None None
View mm170241ct 8 rs2292927
dbSNP
139838912 314.77 T C . 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83147 0.83150 0.17069 0.00 None None None None None None None

COMMD5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs1209879
dbSNP
146076708 580.77 C T . 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26837 0.26840 0.27472 0.23 0.00 None None None None None None None

CPA6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs17343819
dbSNP
68396915 1178.77 T C . 0/1 96 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.07907 0.07907 0.12410 0.35 0.00 None None None None None None None

CPNE3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs2304789
dbSNP
87567193 1448.77 C T . 0/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21286 0.21290 0.31678 0.19 0.03 None None None None None None None
View mm170241ct 8 rs747876121
dbSNP
87567206 696.77 A G . 0/1 61 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CPQ

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs1864384
dbSNP
97847358 1201.77 G T . 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.60923 0.60920 0.43618 None None None None None None None

CPSF1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs4317614
dbSNP
145623963 800.77 G A . 0/1 64 SYNONYMOUS_CODING LOW SILENT 0.45907 0.45910 0.32616 None None None None None None None