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Genes:
ADAM32, ADAM7, ADAMDEC1, ADRA1A, AGO2, AGPAT6, ANGPT2, ANK1, ANXA13, ARC, ARFGEF1, ARHGAP39, ARHGEF10, ASAH1, ASAP1, ASPH, ATAD2, BAI1, BLK, C8orf58, C8orf82, C8orf87, CA2, CA8, CDH17, CEBPD, CHRNA2, CLU, CLVS1, CNGB3, COL14A1, COL22A1, COLEC10, CPQ, CPSF1, CSGALNACT1, CSMD1, CSMD3, CTHRC1, CTSB, CYHR1, CYP11B1, CYP11B2, CYP7B1, DCAF13, DCAF4L2, DDHD2, DEFA3, DEFB4B, DENND3, DGAT1, DLC1, DLGAP2, DOCK5, DPYS, DPYSL2, DSCC1, DUSP26, DUSP4, EBF2, EEF1D, EFR3A, ELP3, EPPK1, ESRP1, EXOSC4, EXT1, EYA1, FABP5, FAM135B, FAM83H, FAM91A1, FDFT1, FER1L6, FGF20, FZD3, FZD6, GDAP1, GFRA2, GGH, GNRH1, GOT1L1, GPIHBP1, GPT, HAS2, HGSNAT, HHLA1, HR, IDO2, INTS9, KAT6A, KCNB2, KCNK9, KCNQ3, KCNS2, KCTD9, KIAA1456, KIAA1875, KIF13B, KLHL38, LEPROTL1, LOXL2, LPL, LRRC14, LY6E, LY6H, LY96, LYNX1, LZTS1, MATN2, MCM4, MCMDC2, MCPH1, MMP16, MOS, MROH1, MROH5, MROH6, MSR1, MTERFD1, MTMR9, MTUS1, MYOM2, NAPRT1, NAT2, NEFM, NKX6-3, NRG1, NSMCE2, NUDCD1, NUGGC, OPLAH, OPRK1, PARP10, PCM1, PCMTD1, PEX2, PHF20L1, PKHD1L1, PLAT, PLEC, POLB, POU5F1B, PPAPDC1B, PRDM14, PREX2, PRKDC, PRSS55, PSCA, PTK2, PTK2B, PXDNL, RALYL, RB1CC1, RBM12B-AS1, RECQL4, RGS22, RHOBTB2, RIMS2, RNF122, RNF139, RNF19A, RP1, RP1L1, RRM2B, RSPO2, RUNX1T1, SAMD12, SCRIB, SDCBP, SFTPC, SGK223, SHARPIN, SLC18A1, SLC30A8, SLC35G5, SLC39A4, SLC52A2, SLC7A13, SNTG1, SNX16, SORBS3, SOX7, SPAG11B, STAR, TACC1, TAF2, TBC1D31, TCEA1, TEX15, TG, TGS1, TMEM66, TMEM67, TMEM70, TNFRSF10A, TNFRSF10B, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TRAPPC9, TRIB1, TRPA1, TRPS1, TTI2, UBR5, UNC5D, USP17L2, VCPIP1, VPS13B, WHSC1L1, WISP1, WRN, ZBTB10, ZC3H3, ZDHHC2, ZFAT, ZFP41, ZHX2, ZNF250, ZNF517, ZNF623, ZNF696, ZNF7, ZNF707,

Genes at Omim

ANK1, ARHGEF10, ASAH1, ASPH, BLK, CA2, CA8, CHRNA2, CNGB3, COLEC10, CTHRC1, CTSB, CYP11B1, CYP11B2, CYP7B1, DDHD2, DGAT1, DLC1, DPYS, ESRP1, EXT1, EYA1, FAM83H, FDFT1, FGF20, FZD6, GDAP1, GNRH1, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, KCNQ3, LPL, LZTS1, MCM4, MCPH1, MSR1, NAT2, NRG1, NSMCE2, OPLAH, PEX2, PLAT, PRKDC, RB1CC1, RECQL4, RHOBTB2, RNF139, RP1, RP1L1, RRM2B, RSPO2, SAMD12, SFTPC, SLC30A8, SLC39A4, SLC52A2, STAR, TAF2, TEX15, TG, TMEM67, TMEM70, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TRPS1, TTI2, VPS13B,
ANK1 Spherocytosis, type 1, 182900 (3)
ARHGEF10 ?Slowed nerve conduction velocity, AD, 608236 (3)
ASAH1 Farber lipogranulomatosis, 228000 (3)
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
ASPH Traboulsi syndrome, 601552 (3)
BLK Maturity-onset diabetes of the young, type 11, 613375 (3)
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)
COLEC10 3MC syndrome 3, 248340 (3)
CTHRC1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
CTSB Keratolytic winter erythema, 148370 (4)
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
CYP7B1 Bile acid synthesis defect, congenital, 3, 613812 (3)
Spastic paraplegia 5A, autosomal recessive, 270800 (3)
DDHD2 Spastic paraplegia 54, autosomal recessive, 615033 (3)
DGAT1 ?Diarrhea 7, protein-losing enteropathy type, 615863 (3)
DLC1 Colorectal cancer, somatic, 114500 (3)
DPYS Dihydropyrimidinuria, 222748 (3)
ESRP1 ?Deafness, autosomal recessive 109, 618013 (3)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (3)
EYA1 Anterior segment anomalies with or without cataract, 602588 (3)
Branchiootic syndrome 1, 602588 (3)
Branchiootorenal syndrome 1, with or without cataracts, 113650 (3)
?Otofaciocervical syndrome, 166780 (3)
FAM83H Amelogenesis imperfecta, type IIIA, 130900 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FGF20 ?Renal hypodysplasia/aplasia 2, 615721 (3)
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)
KAT6A Mental retardation, autosomal dominant 32, 616268 (3)
KCNK9 Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)
KCNQ3 Seizures, benign neonatal, 2, 121201 (3)
LPL Combined hyperlipidemia, familial, 144250 (3)
Lipoprotein lipase deficiency, 238600 (3)
[High density lipoprotein cholesterol level QTL 11] (3)
LZTS1 Esophageal squamous cell carcinoma, somatic, 133239 (3)
MCM4 Immunodeficiency 54, 609981 (3)
MCPH1 Microcephaly 1, primary, autosomal recessive, 251200 (3)
MSR1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
NAT2 [Acetylation, slow], 243400 (3)
NRG1 {?Schizophrenia, susceptibility to}, 603013 (1)
NSMCE2 Seckel syndrome 10, 617253 (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PEX2 Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)
Peroxisome biogenesis disorder 5B, 614867 (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)
RB1CC1 Breast cancer, somatic, 114480 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RHOBTB2 Epileptic encephalopathy, early infantile, 64, 618004 (3)
RNF139 Renal cell carcinoma, 144700 (3)
RP1 Retinitis pigmentosa 1, 180100 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)
RSPO2 ?Humerofemoral hypoplasia with radiotibial ray deficiency, 618022 (3)
Tetraamelia syndrome 2, 618021 (3)
SAMD12 Epilepsy, familial adult myoclonic, 1, 601068 (3)
SFTPC Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)
SLC30A8 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
SLC39A4 Acrodermatitis enteropathica, 201100 (3)
SLC52A2 Brown-Vialetto-Van Laere syndrome 2, 614707 (3)
STAR Lipoid adrenal hyperplasia, 201710 (3)
TAF2 Mental retardation, autosomal recessive 40, 615599 (3)
TEX15 Spermatogenic failure 25, 617960 (3)
TG Thyroid dyshormonogenesis 3, 274700 (3)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TMEM67 COACH syndrome, 216360 (3)
Joubert syndrome 6, 610688 (3)
Meckel syndrome 3, 607361 (3)
Nephronophthisis 11, 613550 (3)
?RHYNS syndrome, 602152 (3)
{Bardet-Biedl syndrome 14, modifier of}, 615991 (3)
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
TNFRSF10B Squamous cell carcinoma, head and neck, 275355 (3)
TNFRSF11B Paget disease of bone 5, juvenile-onset, 239000 (3)
TRAPPC9 Mental retardation, autosomal recessive 13, 613192 (3)
TRPA1 ?Episodic pain syndrome, familial, 1, 615040 (3)
TRPS1 Trichorhinophalangeal syndrome, type I, 190350 (3)
Trichorhinophalangeal syndrome, type III, 190351 (3)
TTI2 Mental retardation, autosomal recessive 39, 615541 (3)
VPS13B Cohen syndrome, 216550 (3)

Genes at Clinical Genomics Database

ANK1, ARHGEF10, ASAH1, ASPH, BLK, CA2, CA8, CHRNA2, CNGB3, CTHRC1, CYP11B1, CYP11B2, CYP7B1, DDHD2, DGAT1, DPYS, EXT1, EYA1, FAM83H, FGF20, FZD6, GDAP1, GNRH1, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, KCNQ3, LPL, MCM4, MCPH1, MSR1, NAT2, OPLAH, PEX2, PLEC, PRKDC, RB1CC1, RECQL4, RNF139, RP1, RP1L1, RRM2B, SFTPC, SLC39A4, SLC52A2, STAR, TAF2, TG, TMEM67, TMEM70, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TRPS1, TTI2, VPS13B, WRN,
ANK1 Spherocytosis, hereditary 1
ARHGEF10 Slowed nerve conduction velocity, autosomal dominant (Hereditary motor and sensory neuropathy)
ASAH1 Farber lipogranulomatosis
Spinal muscular atrophy with progressive myoclonic epilepsy
ASPH Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB)
BLK Maturity-onset diabetes of the young, type 11
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 Achromatopsia 3
Macular degeneration, juvenile
CTHRC1 Barrett esophagus/Esophageal adenocarcinoma
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
CYP7B1 Bile acid synthesis defect, congenital, 3
DDHD2 Spastic paraplegia 54
DGAT1 Diarrhea 7
DPYS Dihydropyriminidase deficiency
EXT1 Exostoses, multiple, type 1
EYA1 Branchiootic syndrome 1
Branchiootorenal syndrome 1
Otofaciocervical syndrome 1
FAM83H Amelogenesis imperfecta, type 3
FGF20 Renal hypodysplasia/aplasia 2
FZD6 Nail disorder, nonsyndromic noncongenital 10
GDAP1 Charcot-Marie-Tooth disease, recessive intermediate, A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
Charcot-Marie-Tooth disease, axonal, type 2K
Charcot-Marie-Tooth disease, type 4A
GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia
GPIHBP1 Hyperlipoproteinemia, type ID
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)
Retinitis pigmentosa 73
HR Hypotrichosis 4
Atrichia with papular lesions
Alopecia universalis congenita
KAT6A Mental retardation, autosomal dominant 32
KCNK9 Birk-Barel mental retardation dysmorphism syndrome
KCNQ3 Seizures, benign neonatal, 2
LPL Lipoprotein lipase deficiency
Combined hyperlipidemia, familial
Hyperlipoproteinemia, type I
MCM4 Natural killer cell and glucocorticoid deficiency with DNA repair defect
MCPH1 Microcephaly, primary autosomal recessive, 1
MSR1 Barrett esophagus/esophageal adenocarcinoma
Prostate cancer
NAT2 Acetylation, NAT2-related
OPLAH 5-oxoprolinase deficiency
PEX2 Peroxisome biogenesis disorder 5A
Peroxisome biogenesis disorder 5B
PLEC Muscular dystrophy, limb-girdle, type 2Q
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RB1CC1 Schizophrenia
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RNF139 Renal cell carcinoma, clear cell
RP1 Retinitis pigmentosa 1, autosomal dominant
Retinitis pigmentosa 1, autosomal recessive
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
Mitochondrial DNA depletion syndrome 8A
Mitochondrial DNA depletion syndrome 8B
SFTPC Surfactant metabolism dysfunction, pulmonary, 2
SLC39A4 Acrodermatitis enteropathica
SLC52A2 Brown-Vialetto-Van Laere syndrome 2
STAR Lipoid adrenal hyperplasia
TAF2 Mental retardation, autosomal recessive 40
TG Thyroid dyshormonogenesis 3
TMEM67 Nephronophthisis 11
Meckel syndrome 3
Joubert syndrome 6
COACH syndrome
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TNFRSF10B Squamous cell carcinoma, head and neck
TNFRSF11B Paget disease of bone 5, juvenile
TRAPPC9 Mental retardation, autosomal recessive 13
TRPA1 Episodic pain syndrome, familial
TRPS1 Trichorhinophalangeal syndrome, type I
Trichorhinophalangeal syndrome, type III
TTI2 Mental retardation, autosomal recessive 39
VPS13B Cohen syndrome
WRN Werner syndrome

Genes at HGMD

Summary

Number of Variants: 858
Number of Genes: 227

Export to: CSV

ADAM32

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs4517088
dbSNP Clinvar
38964647 14.92 G A LowGQ;LowGQX 1/1 2 None None None 0.44549 0.44550 0.01 0.00 None None None None None None ADAM32|0.008880265|81.76%

ADAM7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs13277171
dbSNP Clinvar
24359068 2123.7 G A PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.26478 0.26480 0.26265 None None None None None None ADAM7|0.013206563|78.36%
View 15ac02301_s1 genome 8 rs13255694
dbSNP Clinvar
24339679 4873.34 G A PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.26138 0.26140 0.26096 0.00 1.00 None None None None None None ADAM7|0.013206563|78.36%
View 15ac02301_s1 genome 8 rs3736281
dbSNP Clinvar
24349417 1686.6 T C PASS 0/1 130 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.02816 0.02815 0.00884 0.00 0.52 None None None None None None ADAM7|0.013206563|78.36%
View 15ac02301_s1 genome 8 rs13259668
dbSNP Clinvar
24356818 1547.3 A C PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.32628 0.32630 0.33046 0.08 0.00 None None None None None None ADAM7|0.013206563|78.36%

ADAMDEC1

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 15ac02301_s1 genome 8 rs2291577
dbSNP Clinvar
24256470 44.2 C T LowGQ;LowGQX;SB 1/1 2 SYNONYMOUS_CODING LOW None 0.29293 0.29290 0.34269 None None None None None None ADAMDEC1|0.01425096|77.67%

ADRA1A

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 15ac02301_s1 genome 8 rs1048101
dbSNP Clinvar
26628028 2917.14 A G PASS 0/1 229 NON_SYNONYMOUS_CODING MODERATE None 0.64816 0.64820 0.45494 0.40 0.00 None None None None None None ADRA1A|0.171893562|40.07%

AGO2

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs2293939
dbSNP Clinvar
141551407 1559.67 G A PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.22744 0.22740 0.20906 None None None None None None AGO2|0.736134544|7.47%

AGPAT6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 . 41467337 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.01 None None None None None None AGPAT6|0.220966416|34.3%

ANGPT2

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 15ac02301_s1 genome 8 . 6360766 14.92 T A LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%
View 15ac02301_s1 genome 8 . 6366448 9.8 C A LowGQ;LowGQX;SB 1/1 1 None None None 0.02 0.00 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%

ANK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 . 41530417 4.97 C A LowGQX;SB 0/1 2 SYNONYMOUS_CODING LOW None None None None None None None ANK1|0.956309863|2.07%
View 15ac02301_s1 genome 8 rs1137177
dbSNP Clinvar
41563685 571.61 G A PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.18091 0.18090 0.19637 None None None None None None ANK1|0.956309863|2.07%
View 15ac02301_s1 genome 8 rs2304880
dbSNP Clinvar
41559609 818.02 G A PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.18071 0.18070 0.19622 None None None None None None ANK1|0.956309863|2.07%
View 15ac02301_s1 genome 8 rs504574
dbSNP Clinvar
41553928 3066.31 C G PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.40715 0.40710 0.36285 None None None None None None ANK1|0.956309863|2.07%

ANXA13

Omim - GeneCards - NCBI
Options Individual Chr
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs2294013
dbSNP Clinvar
124710729 9.8 C T LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.23403 0.23400 0.29479 0.12 0.01 None None None None None None ANXA13|0.222416197|34.14%
View 15ac02301_s1 genome 8 . 124710757 14.92 C A LowGQ;LowGQX 1/1 2 STOP_GAINED HIGH None None None None None None None ANXA13|0.222416197|34.14%

ARC

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 15ac02301_s1 genome 8 rs28686812
dbSNP Clinvar
143694775 9.8 G C LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.50060 0.50060 0.49477 None None None None None None ARC|0.130590354|45.8%

ARFGEF1

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 15ac02301_s1 genome 8 . 68112534 14.92 T G LowGQ;LowGQX 1/1 2 None None None 0.02 0.00 None None None None None None ARFGEF1|0.649800549|10.12%

ARHGAP39

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 . 145773035 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.74 None None None None None None ARHGAP39|0.083072421|54.56%
View 15ac02301_s1 genome 8 rs747417933
dbSNP Clinvar
145780967 9.8 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None ARHGAP39|0.083072421|54.56%

ARHGEF10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs2272608
dbSNP Clinvar
1900911 2234.65 C T PASS 0/1 199 SYNONYMOUS_CODING LOW None 0.21506 0.21510 0.18392 None None None None None None ARHGEF10|0.010635325|80.42%
View 15ac02301_s1 genome 8 rs2294038
dbSNP Clinvar
1857548 1187.91 T C PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.15695 0.15690 0.14609 None None None None None None ARHGEF10|0.010635325|80.42%

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 15ac02301_s1 genome 8 rs2472205
dbSNP Clinvar
17924739 1400.96 A T PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.02276 0.02276 0.03437 0.35 0.00 None None None None None None ASAH1|0.03988949|65.81%
View 15ac02301_s1 genome 8 rs3753115
dbSNP Clinvar
17930772 485.44 C T PASS 0/1 70 None None None 0.41354 0.41350 0.42394 0.33 0.00 None None None None None None ASAH1|0.03988949|65.81%
View 15ac02301_s1 genome 8 rs1071645
dbSNP Clinvar
17928811 1767.77 C T PASS 0/1 134 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.42053 0.42050 0.42427 0.19 0.00 None None None None None None ASAH1|0.03988949|65.81%
View 15ac02301_s1 genome 8 rs10103355
dbSNP Clinvar
17918934 5520.19 A G PASS 1/1 185 NON_SYNONYMOUS_CODING MODERATE None 0.85024 0.85020 0.13340 0.92 0.00 None None None None None None ASAH1|0.03988949|65.81%
View 15ac02301_s1 genome 8 rs1049874
dbSNP Clinvar
17927327 1467.96 T C PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.42053 0.42050 0.42163 0.93 0.00 None None None None None None ASAH1|0.03988949|65.81%

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 15ac02301_s1 genome 8 rs966185
dbSNP Clinvar
131124559 4.97 T C LowGQ;LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.47444 0.47440 0.39866 0.86 0.00 None None None None None None ASAP1|0.438507149|18.75%

ASPH

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 15ac02301_s1 genome 8 . 62550914 9.8 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None ASPH|0.124407055|46.75%

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 15ac02301_s1 genome 8 . 124371510 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ATAD2|0.385074539|21.71%
View 15ac02301_s1 genome 8 . 124371520 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.71 None None None None None None ATAD2|0.385074539|21.71%

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 15ac02301_s1 genome 8 . 143563048 9.3 C A LowGQX 0/1 3 STOP_GAINED HIGH None None None None None None None ADGRB1|0.079978463|55.17%
View 15ac02301_s1 genome 8 . 143625702 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.90 None None None None None None ADGRB1|0.079978463|55.17%

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 15ac02301_s1 genome 8 rs3816668
dbSNP Clinvar
11406593 1045.85 T C PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.49031 None None None None None None BLK|0.095762795|51.98%
View 15ac02301_s1 genome 8 rs2306234
dbSNP Clinvar
11414237 2153.66 T C PASS 0/1 144 SYNONYMOUS_CODING LOW None 0.82768 0.82770 0.18753 None None None None None None BLK|0.095762795|51.98%

C8orf58

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 15ac02301_s1 genome 8 . 22459309 7.08 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.93 None None None None None None C8orf58|0.006529487|84.03%

C8orf82

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 15ac02301_s1 genome 8 . 145752893 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.19 0.13 None None None None None None C8orf82|0.009303358|81.44%
View 15ac02301_s1 genome 8 rs11557085
dbSNP Clinvar
145752900 9.8 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.39417 0.39420 None None None None None None C8orf82|0.009303358|81.44%

C8orf87

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 15ac02301_s1 genome 8 rs13267247
dbSNP Clinvar
94146656 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.23163 0.23160 0.00 0.77 None None None None None None C8orf87|0.001906946|91.22%

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 15ac02301_s1 genome 8 rs703
dbSNP Clinvar
86389403 2881.63 T C PASS 0/1 252 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

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 15ac02301_s1 genome 8 rs7464181
dbSNP Clinvar
61178574 5874.19 T C PASS 1/1 187 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

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 15ac02301_s1 genome 8 . 95178170 14.89 C A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.27 0.01 None None None None None None CDH17|0.034427264|67.65%
View 15ac02301_s1 genome 8 rs2243518
dbSNP Clinvar
95188850 41.02 T C LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.80232 0.80230 0.16861 0.52 0.00 None None None None None None CDH17|0.034427264|67.65%
View 15ac02301_s1 genome 8 rs2513797
dbSNP Clinvar
95143138 9.8 A G LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.08367 0.08367 0.11848 None None None None None None CDH17|0.034427264|67.65%

CEBPD

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 15ac02301_s1 genome 8 . 48650196 3.16 G A LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.45 0.99 None None None None None None CEBPD|0.392474511|21.24%

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 15ac02301_s1 genome 8 rs891398
dbSNP Clinvar
27324822 3626.19 T C PASS 1/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.61022 0.61020 0.41988 1.00 0.00 None None None None None None CHRNA2|0.020223368|74.06%
View 15ac02301_s1 genome 8 rs2565061
dbSNP Clinvar
27324844 1204.79 G A PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.23782 0.23780 0.16715 None None None None None None CHRNA2|0.020223368|74.06%
View 15ac02301_s1 genome 8 rs2472553
dbSNP Clinvar
27328511 1145.25 G A PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.22105 0.22100 0.14878 1.00 0.00 None None None None None None CHRNA2|0.020223368|74.06%

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 15ac02301_s1 genome 8 rs7982
dbSNP Clinvar
27462481 1344.03 A G PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.66454 0.66450 0.40212 None None None None None None CLU|0.219123407|34.47%

CLVS1

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 15ac02301_s1 genome 8 . 62370895 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.20 None None None None None None CLVS1|0.530219384|14.59%

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 15ac02301_s1 genome 8 rs4961206
dbSNP Clinvar
87666251 1629.16 T G PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.67971 0.67970 0.35941 0.30 0.01 None None None None None None CNGB3|0.068013081|57.91%
View 15ac02301_s1 genome 8 rs6471482
dbSNP Clinvar
87679303 573.06 A C PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.95747 0.95750 0.12141 1.00 0.00 None None None None None None CNGB3|0.068013081|57.91%

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 15ac02301_s1 genome 8 rs377563192
dbSNP Clinvar
121295999 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.00 1.00 None None None None None None COL14A1|0.765229358|6.75%

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 15ac02301_s1 genome 8 . 139737662 14.91 C G LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None COL22A1|0.06710202|58.12%
View 15ac02301_s1 genome 8 . 139838987 4.97 A G LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None COL22A1|0.06710202|58.12%

COLEC10

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 . 120101924 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.72 None None None None None None COLEC10|0.201017624|36.64%

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 15ac02301_s1 genome 8 rs1864384
dbSNP Clinvar
97847358 9.8 G T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.43618 None None None None None None CPQ|0.160118797|41.51%
View 15ac02301_s1 genome 8 . 97847406 14.92 C A LowGQ;LowGQX 1/1 2 STOP_GAINED+SPLICE_SITE_REGION HIGH None None None None None None None CPQ|0.160118797|41.51%

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 15ac02301_s1 genome 8 rs782085346
dbSNP Clinvar
145623177 9.8 G A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None CPSF1|0.315599788|26.38%
View 15ac02301_s1 genome 8 . 145626607 9.8 G T LowGQ;LowGQX;SB 1/1 1 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None CPSF1|0.315599788|26.38%

CSGALNACT1

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs7017776
dbSNP Clinvar
19362768 863.89 C T SB 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.75479 0.75480 0.25780 0.91 0.01 None None None None None None CSGALNACT1|0.134495825|45.18%

CSMD1

Omim - GeneCards - NCBI
Options Individual Chr
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs667859
dbSNP Clinvar
2820745 1417.65 G C PASS 0/1 135 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.36771 None None None None None None CSMD1|0.119480951|47.53%
View 15ac02301_s1 genome 8 rs17417724
dbSNP Clinvar
4494905 1969.87 T C PASS 0/1 178 SYNONYMOUS_CODING LOW None 0.02117 0.02117 0.04469 None None None None None None CSMD1|0.119480951|47.53%
View 15ac02301_s1 genome 8 rs10088378
dbSNP Clinvar
3265590 3822.64 C T PASS 0/1 279 SYNONYMOUS_CODING LOW None 0.60304 0.60300 0.32955 None None None None None None CSMD1|0.119480951|47.53%
View 15ac02301_s1 genome 8 rs3802303
dbSNP Clinvar
3253768 1797.38 C T PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.29972 0.29970 0.38278 None None None None None None CSMD1|0.119480951|47.53%
View 15ac02301_s1 genome 8 rs3824271
dbSNP Clinvar
2965244 2618.18 T C PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.83966 0.83970 0.21177 None None None None None None CSMD1|0.119480951|47.53%
View 15ac02301_s1 genome 8 rs6558703
dbSNP Clinvar
2910020 5502.06 A G PASS 1/1 181 SYNONYMOUS_CODING LOW None 0.98263 0.98260 0.01646 None None None None None None CSMD1|0.119480951|47.53%
View 15ac02301_s1 genome 8 rs6558702
dbSNP Clinvar
2909992 1648.33 G A PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.69289 0.69290 0.26894 0.00 None None None None None None CSMD1|0.119480951|47.53%
View 15ac02301_s1 genome 8 rs667595
dbSNP Clinvar
2832139 1724.87 C G PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.75100 0.75100 0.20028 None None None None None None CSMD1|0.119480951|47.53%

CSMD3

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 15ac02301_s1 genome 8 rs1592624
dbSNP Clinvar
113241088 2186.01 T G PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.71226 0.71230 0.33223 0.25 0.71 None None None None None None CSMD3|0.744731001|7.23%
View 15ac02301_s1 genome 8 rs11778209
dbSNP Clinvar
113364696 1384.06 A G PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.25020 0.25020 0.17602 None None None None None None CSMD3|0.744731001|7.23%
View 15ac02301_s1 genome 8 rs2219898
dbSNP Clinvar
114186003 953.87 T C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.46605 0.46610 0.31247 0.73 0.71 None None None None None None CSMD3|0.744731001|7.23%

CTHRC1

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 15ac02301_s1 genome 8 rs6995597
dbSNP Clinvar
104384780 1559.18 A G PASS 0/1 119 None None None 0.09125 0.09125 0.06959 0.10 0.00 None None None None None None CTHRC1|0.186760424|38.19%
View 15ac02301_s1 genome 8 rs3098233
dbSNP Clinvar
104394744 456.97 T C PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.74461 0.74460 0.21698 None None None None None None CTHRC1|0.186760424|38.19%

CTSB

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs13332
dbSNP Clinvar
11706581 922.94 T G PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.07308 0.07308 0.34999 None None None None None None CTSB|0.202646008|36.44%

CYHR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 . 145675870 7.08 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.79 0.04 None None None None None None CYHR1|0.053470471|61.63%
View 15ac02301_s1 genome 8 . 145675939 14.91 G T LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None CYHR1|0.053470471|61.63%
View 15ac02301_s1 genome 8 . 145676079 7.08 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.96 None None None None None None CYHR1|0.053470471|61.63%
View 15ac02301_s1 genome 8 . 145689513 9.8 C A LowGQ;LowGQX;SB 1/1 1 None None None 0.05 0.39 None None None None None None CYHR1|0.053470471|61.63%

CYP11B1

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 15ac02301_s1 genome 8 rs75717953
dbSNP Clinvar
143959174 3.16 T C LowGQX;LowQD;SB 0/1 5 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00 0.00 None None None None None None GML|0.000127964|99.9%,CYP11B1|0.016882471|75.94%

CYP11B2

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs4536
dbSNP Clinvar
143995761 3811.21 C T PASS 1/1 141 SYNONYMOUS_CODING LOW None 0.82348 0.82350 0.03068 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%

CYP7B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs59035258
dbSNP Clinvar
65527669 2760.81 C T PASS 0/1 225 NON_SYNONYMOUS_CODING MODERATE None 0.01777 0.01777 0.02953 1.00 0.00 None None None None None None CYP7B1|0.174667281|39.7%

DCAF13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs3134295
dbSNP Clinvar
104427359 4966.99 A C PASS 1/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.42832 0.42830 0.46217 0.00 None None None None None None SLC25A32|0.240512461|32.38%,DCAF13|0.575698411|12.79%
View 15ac02301_s1 genome 8 rs3134253
dbSNP Clinvar
104432545 2200.79 A G PASS 0/1 187 NON_SYNONYMOUS_CODING MODERATE None 0.25340 0.25340 0.21482 0.74 0.00 None None None None None None DCAF13|0.575698411|12.79%
View 15ac02301_s1 genome 8 rs3134297
dbSNP Clinvar
104427578 2575.47 T C PASS 0/1 186 SYNONYMOUS_CODING LOW None 0.25359 0.25360 0.21225 None None None None None None DCAF13|0.575698411|12.79%
View 15ac02301_s1 genome 8 rs3134296
dbSNP Clinvar
104427541 2508.01 C T PASS 0/1 175 NON_SYNONYMOUS_CODING MODERATE None 0.22205 0.22200 0.14243 0.00 0.02 None None None None None None DCAF13|0.575698411|12.79%

DCAF4L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs375340661
dbSNP Clinvar
88885018 9.8 G A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None DCAF4L2|0.001422509|93.23%

DDHD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 . 38110247 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None DDHD2|0.186127419|38.25%

DEFA3

Omim - GeneCards - NCBI
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Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 . 6874212 7.08 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.50 None None None None None None DEFA1B|0.000762595|96.91%,DEFA3|0.000379842|99.08%

DEFB4B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs201824968
dbSNP Clinvar
7272594 87.11 A G LowMQ;LowQD 0/1 207 SYNONYMOUS_CODING LOW None None None None None None None DEFB4B|0.000218017|99.72%

DENND3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 . 142202808 4.97 C A LowGQX;LowQD;SB 0/1 3 None None None 0.00 None None None None None None DENND3|0.011564148|79.53%

DGAT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs55962377
dbSNP Clinvar
145541766 2407.58 G T PASS 0/1 193 NON_SYNONYMOUS_CODING MODERATE None 0.03594 0.03594 0.07232 0.16 0.10 None None None None None None DGAT1|0.089499172|53.32%
View 15ac02301_s1 genome 8 rs56180335
dbSNP Clinvar
145542021 2554.46 G A PASS 0/1 192 SYNONYMOUS_CODING LOW None 0.02336 0.02336 0.05371 None None None None None None DGAT1|0.089499172|53.32%

DLC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 . 12957590 4.97 C A LowGQX;LowQD;SB 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None DLC1|0.140256235|44.36%
View 15ac02301_s1 genome 8 rs11203494
dbSNP Clinvar
13356818 9.8 T C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.95807 0.95810 0.05390 1.00 0.00 None None None None None None DLC1|0.140256235|44.36%
View 15ac02301_s1 genome 8 rs11203495
dbSNP Clinvar
13356819 9.8 T G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.75839 0.75840 0.13563 0.18 0.01 None None None None None None DLC1|0.140256235|44.36%

DLGAP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02301_s1 genome 8 rs2235112
dbSNP Clinvar
1616718 7638.86 A G PASS 1/1 255 SYNONYMOUS_CODING LOW None 0.53315 0.53310 0.39413 None None None None None None DLGAP2|0.064995434|58.64%
View 15ac02301_s1 genome 8 rs2301963
dbSNP Clinvar
1514009 2675.88 C A PASS 0/1 239 NON_SYNONYMOUS_CODING MODERATE None 0.46066 0.46070 0.42253 0.17 0.02 None None None None None None DLGAP2|0.064995434|58.64%
View 15ac02301_s1 genome 8 rs200151488
dbSNP Clinvar
1626460 4786.49 T TCAC PASS 0/1 207 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.02137 0.02137 0.03699 None None None None None None DLGAP2|0.064995434|58.64%