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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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Genes at Omim

ACAN, ALMS1, AQP7, ATXN1, CCDC8, CFTR, CLEC4M, CYP2A6, DSPP, F5, FLG, HERC2, HLA-A, HLA-B, HLA-DRB1, HS6ST1, KMT2C, MUC7, PCNT, PER3, PKD1, PRG4, PRSS1, PSPH, RP1L1, SHANK3, TBP, TRIOBP,
ACAN ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3)
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
ALMS1 Alstrom syndrome, 203800 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
CCDC8 3-M syndrome 3, 614205 (3)
CFTR {Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CLEC4M SARS infection, protection against (2)
CYP2A6 {Lung cancer, resistance to}, 211980 (3)
Coumarin resistance, 122700 (3)
{Nicotine addiction, protection from}, 188890 (3)
DSPP Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3)
Dentin dysplasia, type II, 125420 (3)
Dentinogenesis imperfecta, Shields type II, 125490 (3)
Dentinogenesis imperfecta, Shields type III, 125500 (3)
F5 Factor V deficiency, 227400 (3)
{Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
{Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3)
Thrombophilia due to activated protein C resistance, 188055 (3)
{Budd-Chiari syndrome}, 600880 (3)
FLG Ichthyosis vulgaris, 146700 (3)
{Dermatitis, atopic, susceptibility to, 2}, 605803 (3)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HS6ST1 {Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
MUC7 {Asthma, protection against}, 600807 (3)
PCNT Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PKD1 Polycystic kidney disease 1, 173900 (3)
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
PSPH Phosphoserine phosphatase deficiency, 614023 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
SHANK3 {Schizophrenia 15}, 613950 (3)
Phelan-McDermid syndrome, 606232 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)

Genes at Clinical Genomics Database

ACAN, ALMS1, ATXN1, CCDC8, CFTR, CYP2A6, DSPP, F5, FLG, HERC2, HLA-A, HLA-B, HS6ST1, PCNT, PER3, PKD1, PRG4, PRSS1, PSPH, RP1L1, SHANK3, TBP, TRIOBP, ZNF480, ZNF674,
ACAN Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ALMS1 Alstrom syndrome
ATXN1 Spinocerebellar ataxia 1
CCDC8 Three M syndrome 3
CFTR Cystic fibrosis
CYP2A6 CYP2A6-related drug metabolism
DSPP Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
Dentinogenesis imperfecta, Shields type II
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
F5 Thrombophilia due to activated protein C resistance
Factor V deficiency
FLG Icthyosis vulgaris
HERC2 Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
HS6ST1 Hypogonadotropic hypogonadism 15, with or without anosmia
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
PER3 Advanced sleep phase syndrome, familial, 3
PKD1 Polycystic kidney disease, adult type I
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
PRSS1 Pancreatitis, hereditary
PSPH Phosphoserine phosphatase deficiency
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
SHANK3 Phelan-McDermid syndrome
Schizophrenia
TBP Spinocerebellar ataxia 17
TRIOBP Deafness, autosomal recessive 28
ZNF480 Schizophrenia
ZNF674 Mental retardation, X-linked 92

Genes at HGMD

Summary

Number of Variants: 412
Number of Genes: 78

Export to: CSV

ACAN

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 16hpc01701_s1 genome 15 rs62023518
dbSNP Clinvar
89398768 72.06 C T LowQD 0/1 61 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None ACAN|0.017538305|75.58%
View 16hpc01701_s1 genome 15 rs200194458
dbSNP Clinvar
89398769 67.99 A G LowQD 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.12 0.05 None None None None None None ACAN|0.017538305|75.58%

ALMS1

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 16hpc01701_s1 genome 2 rs752146875
dbSNP Clinvar
73677964 209.56 G T LowQD 0/1 281 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None ALMS1|0.012791041|78.65%
View 16hpc01701_s1 genome 2 . 73678393 38.41 A T LowQD 0/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None ALMS1|0.012791041|78.65%
View 16hpc01701_s1 genome 2 . 73675372 155.12 G C LowQD 0/1 360 NON_SYNONYMOUS_CODING MODERATE None 0.09 None None None None None None ALMS1|0.012791041|78.65%

AQP7

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 16hpc01701_s1 genome 9 rs76608797
dbSNP Clinvar
33386146 113.41 C A LowQD 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.08 0.01 None None None None None None AQP7|0.012677613|78.76%
View 16hpc01701_s1 genome 9 rs76209395
dbSNP Clinvar
33386144 147.03 G A LowQD 0/1 134 SYNONYMOUS_CODING LOW None 4.77 0.04 0.59886 D None None None None AQP7|0.012677613|78.76%

ATXN1

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 16hpc01701_s1 genome 6 rs3817753
dbSNP Clinvar
16327903 222.09 C A LowQD 0/1 302 NON_SYNONYMOUS_CODING MODERATE None 0.29 0.00 None None None None None None ATXN1|0.832563526|5.05%

CAMKK2

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 16hpc01701_s1 genome 12 . 121678328 0.0 T . LowQD 0 52 None None None None None None None None None CAMKK2|0.180647161|38.95%
View 16hpc01701_s1 genome 12 rs761569371
dbSNP Clinvar
121678327 71.52 CT C LowQD 0/1 63 None None None None None None None None None CAMKK2|0.180647161|38.95%

CCDC8

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 16hpc01701_s1 genome 19 rs878968526
dbSNP Clinvar
46915017 320.81 C G LowQD 0/1 285 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None CCDC8|0.002358405|90.02%

CDK11B

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 16hpc01701_s1 genome 1 rs138980727
dbSNP Clinvar
1573181 274.77 C A LowQD 0/1 165 SYNONYMOUS_CODING LOW None 0.02909 None None None None None None CDK11B|0.035106536|67.44%

CFTR

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 16hpc01701_s1 genome 7 rs79074685
dbSNP Clinvar
117188850 89.0 G T LowQD 0/1 65 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00100 None None None None None None CFTR|0.947527653|2.33%
View 16hpc01701_s1 genome 7 rs201434579
dbSNP Clinvar
117188797 84.16 A G LowQD 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.19 0.00 None None None None None None CFTR|0.947527653|2.33%
View 16hpc01701_s1 genome 7 rs201880593
dbSNP Clinvar
117188750 96.9 C T LowQD 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.70 0.24 None None None None None None CFTR|0.947527653|2.33%
View 16hpc01701_s1 genome 7 rs4727853
dbSNP Clinvar
117188736 238.76 C A LowQD 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.46 0.00 None None None None None None CFTR|0.947527653|2.33%

CLEC4M

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 16hpc01701_s1 genome 19 rs76899402
dbSNP Clinvar
7830731 96.76 G A LowQD 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None CLEC4M|0.000869781|96.24%

CYP2A6

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 16hpc01701_s1 genome 19 rs2302990
dbSNP Clinvar
41355849 240.3 A G LowQD 0/1 181 SYNONYMOUS_CODING LOW None None None None None None None CYP2A6|0.439107836|18.72%

DSPP

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 16hpc01701_s1 genome 4 rs111205184
dbSNP Clinvar
88537378 684.46 T C LowQD 0/1 358 SYNONYMOUS_CODING LOW None 0.10803 0.10800 0.10896 None None None None None None DSPP|0.054175637|61.42%
View 16hpc01701_s1 genome 4 rs150637282
dbSNP Clinvar
88536899 225.61 A G LowQD 0/1 292 NON_SYNONYMOUS_CODING MODERATE None 0.44509 0.44510 0.00 None None None None None None DSPP|0.054175637|61.42%
View 16hpc01701_s1 genome 4 rs62651555
dbSNP Clinvar
88537268 393.43 G A LowQD 0/1 312 NON_SYNONYMOUS_CODING MODERATE None 0.14876 0.14880 0.16412 0.00 None None None None None None DSPP|0.054175637|61.42%

DUX4L4

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 16hpc01701_s1 genome 4 rs782053486
dbSNP Clinvar
191003231 90.5 G A LowQD 0/1 244 NON_SYNONYMOUS_CODING MODERATE None 0.37 0.57 None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs534089506
dbSNP Clinvar
191003220 386.91 C G LowQD 0/1 242 SYNONYMOUS_CODING LOW None 0.00419 0.00419 None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs76157822
dbSNP Clinvar
191003253 71.28 C T LowQD 0/1 239 SYNONYMOUS_CODING LOW None None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs74372639
dbSNP Clinvar
191003215 300.53 G T LowQD 0/1 229 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.98 None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs77750740
dbSNP Clinvar
191003208 105.59 G T LowQD 0/1 227 NON_SYNONYMOUS_CODING MODERATE None 0.04 1.00 None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs75825492
dbSNP Clinvar
191003241 192.15 G A LowQD 0/1 249 STOP_GAINED HIGH None None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs200991186
dbSNP Clinvar
191003238 446.48 G A LowQD 0/1 244 SYNONYMOUS_CODING LOW None None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs782220148
dbSNP Clinvar
191003280 80.56 G A LowQD 0/1 252 SYNONYMOUS_CODING LOW None None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs78443540
dbSNP Clinvar
191003279 228.03 C T LowQD 0/1 267 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.01 None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs75108513
dbSNP Clinvar
191003278 177.94 G A LowQD 0/1 263 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.01 None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 . 191003277 174.06 C A LowQD 0/1 263 SYNONYMOUS_CODING LOW None None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs72499998
dbSNP Clinvar
191003262 229.56 T C LowQD 0/1 234 SYNONYMOUS_CODING LOW None None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs200506495
dbSNP Clinvar
191003237 219.03 C T LowQD 0/1 242 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.00 None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs782227795
dbSNP Clinvar
191003198 68.42 G C LowQD 0/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.04 None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs74767175
dbSNP Clinvar
191003172 233.23 G A LowQD 0/1 148 SYNONYMOUS_CODING LOW None None None None None None None DUX4L4|0.001517207|92.7%
View 16hpc01701_s1 genome 4 rs782788516
dbSNP Clinvar
191003171 46.12 C T LowQD 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.27 0.01 None None None None None None DUX4L4|0.001517207|92.7%

F5

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 16hpc01701_s1 genome 1 rs1800595
dbSNP Clinvar
169510348 447.7 T C LowQD 0/1 272 NON_SYNONYMOUS_CODING MODERATE None 0.04553 0.04553 0.04529 0.05 0.01 None None None None None None F5|0.038758204|66.18%
View 16hpc01701_s1 genome 1 rs200676405
dbSNP Clinvar
169510246 375.5 G A LowQD 0/1 228 NON_SYNONYMOUS_CODING MODERATE None 0.88 0.00 None None None None None None F5|0.038758204|66.18%

FAM205A

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 16hpc01701_s1 genome 9 rs1755268
dbSNP Clinvar
34725069 586.28 T A LowQD 0/1 343 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None FAM205A|0.002678483|89.31%

FLG

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 16hpc01701_s1 genome 1 rs80221306
dbSNP Clinvar
152278555 218.51 T C LowQD 0/1 215 NON_SYNONYMOUS_CODING MODERATE None 0.08943 0.00 None None None None None None FLG|0.000223203|99.71%
View 16hpc01701_s1 genome 1 rs75448155
dbSNP Clinvar
152276459 165.21 C T LowQD 0/1 251 NON_SYNONYMOUS_CODING MODERATE None 0.07710 0.00 None None None None None None FLG|0.000223203|99.71%

FOXD4

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 16hpc01701_s1 genome 9 rs2492215
dbSNP Clinvar
117506 108.2 G A LowQD 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.01 0.26 None None None None None None None

FRG1

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 16hpc01701_s1 genome 4 rs868094937
dbSNP Clinvar
190862189 111.14 T A LowQD 0/1 187 NON_SYNONYMOUS_CODING MODERATE None 0.77 0.15 None None None None None None FRG1|0.098149242|51.5%
View 16hpc01701_s1 genome 4 rs200620299
dbSNP Clinvar
190874234 112.57 C T LowQD 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.01 1.00 None None None None None None FRG1|0.098149242|51.5%

FRG1B

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 16hpc01701_s1 genome 20 rs77485836
dbSNP Clinvar
29623215 130.78 G A LowQD 0/1 225 SYNONYMOUS_CODING LOW None 0.02756 0.02756 None None None None None None FRG1B|0.009509512|81.26%
View 16hpc01701_s1 genome 20 rs747524520
dbSNP Clinvar
29632719 583.94 C T LowQD 0/1 457 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FRG1B|0.009509512|81.26%
View 16hpc01701_s1 genome 20 rs73598388
dbSNP Clinvar
29632673 645.76 T C LowQD 0/1 545 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.78 None None None None None None FRG1B|0.009509512|81.26%
View 16hpc01701_s1 genome 20 rs73598387
dbSNP Clinvar
29632632 855.99 A G LowQD 0/1 496 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None FRG1B|0.009509512|81.26%
View 16hpc01701_s1 genome 20 rs796333808
dbSNP Clinvar
29632660 705.04 G T LowQD 0/1 540 STOP_GAINED HIGH None None None None None None None FRG1B|0.009509512|81.26%
View 16hpc01701_s1 genome 20 rs78003242
dbSNP Clinvar
29625873 110.05 A C LowQD 0/1 64 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01 0.73 None None None None None None FRG1B|0.009509512|81.26%
View 16hpc01701_s1 genome 20 rs371493541
dbSNP Clinvar
29623254 64.77 G A LowQD 0/1 148 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FRG1B|0.009509512|81.26%

HERC2

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 16hpc01701_s1 genome 15 rs141441362
dbSNP Clinvar
28419619 293.2 C T LowQD 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.01 None None None None None None HERC2|0.10570597|50.1%

HLA-A

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 16hpc01701_s1 genome 6 rs77235917
dbSNP Clinvar
29911925 162.86 C T LowQD 0/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.05072 0.05072 0.06692 0.00 0.27 None None None None None None HLA-A|0.043055872|64.8%

HLA-B

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 16hpc01701_s1 genome 6 rs4997052
dbSNP Clinvar
31324144 151.67 T A LowQD 0/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.23183 0.23180 0.82 0.00 None None None None None None HLA-B|0.04113834|65.4%
View 16hpc01701_s1 genome 6 rs2523600
dbSNP Clinvar
31324004 265.74 C T LowQD 0/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.25879 0.48500 0.71 0.02 None None None None None None HLA-B|0.04113834|65.4%
View 16hpc01701_s1 genome 6 rs709055
dbSNP Clinvar
31324151 258.43 C T LowQD 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.02636 0.02636 0.43649 0.34 0.00 None None None None None None HLA-B|0.04113834|65.4%

HLA-DRB1

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 16hpc01701_s1 genome 6 rs3200488
dbSNP Clinvar
32549362 77.94 G A LowQD 0/1 92 SYNONYMOUS_CODING LOW None 0.10124 0.10120 None None None None None None HLA-DRB1|0.032266025|68.49%
View 16hpc01701_s1 genome 6 rs2308802
dbSNP Clinvar
32551998 387.61 G A LowQD 0/1 256 SYNONYMOUS_CODING LOW None None None None None None None HLA-DRB1|0.032266025|68.49%

HLA-DRB5

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 6 rs201883078
dbSNP Clinvar
32497988 148.51 T C LowQD 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.89 0.00 None None None None None None HLA-DRB5|0.020830666|73.74%

HRC

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 19 rs144084340
dbSNP Clinvar
49657530 46.03 T C LowQD 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.01258 0.01258 1.00 0.01 None None None None None None HRC|0.0162712|76.28%
View 16hpc01701_s1 genome 19 rs138152757
dbSNP Clinvar
49657509 80.42 A T LowQD 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None HRC|0.0162712|76.28%

HS6ST1

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 2 rs200979099
dbSNP Clinvar
129075877 460.07 G T LowQD 0/1 239 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None HS6ST1|0.121406493|47.24%

IGKV1D-43

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 16hpc01701_s1 genome 2 rs111542961
dbSNP Clinvar
90249299 276.3 C T LowQD 0/1 150 SYNONYMOUS_CODING LOW None None None None None None None None

KCNJ12

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 17 rs76681424
dbSNP Clinvar
21319728 191.3 T C LowQD 0/1 106 SYNONYMOUS_CODING LOW None None None None None None None KCNJ12|0.437556296|18.82%
View 16hpc01701_s1 genome 17 rs80022364
dbSNP Clinvar
21319527 94.95 C T LowQD 0/1 75 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None KCNJ12|0.437556296|18.82%
View 16hpc01701_s1 genome 17 rs78135255
dbSNP Clinvar
21319716 233.75 G A LowQD 0/1 147 SYNONYMOUS_CODING LOW None None None None None None None KCNJ12|0.437556296|18.82%
View 16hpc01701_s1 genome 17 rs76518282
dbSNP Clinvar
21319079 190.31 C A LowQD 0/1 257 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.95 None None None None None None KCNJ12|0.437556296|18.82%

KMT2C

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 16hpc01701_s1 genome 7 . 151878444 33.82 C A LowQD 0/1 37 SYNONYMOUS_CODING LOW None None None None None None None KMT2C|0.088346598|53.58%

KRT38

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 16hpc01701_s1 genome 17 rs148768443
dbSNP Clinvar
39595484 291.64 G A LowQD 0/1 176 STOP_GAINED HIGH None None None None None None None KRT38|0.008684534|81.96%

KRTAP1-1

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 16hpc01701_s1 genome 17 rs770445456
dbSNP Clinvar
39197485 199.3 A G LowQD 0/1 237 SYNONYMOUS_CODING LOW None None None None None None None KRTAP1-1|0.015451113|76.85%
View 16hpc01701_s1 genome 17 rs748281420
dbSNP Clinvar
39197549 388.47 G C LowQD 0/1 230 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None KRTAP1-1|0.015451113|76.85%

KRTAP1-3

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 16hpc01701_s1 genome 17 rs78298475
dbSNP Clinvar
39190953 382.34 G C LowQD 0/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.00 None None None None None None KRTAP1-3|0.019429401|74.46%

LILRB1

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 16hpc01701_s1 genome 19 rs201552016
dbSNP Clinvar
55144208 40.73 G A LowQD 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.44 0.00 None None None None None None LILRB1|0.00078612|96.76%

MTCH2

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 11 rs796379070
dbSNP Clinvar
47644274 124.77 A G LowQD 0/1 76 SYNONYMOUS_CODING LOW None None None None None None None MTCH2|0.544905089|13.99%

MUC2

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 16hpc01701_s1 genome 11 rs200369243
dbSNP Clinvar
1093622 472.7 T C LowQD 0/1 288 NON_SYNONYMOUS_CODING MODERATE None 0.00499 0.00 None None None None None None MUC2|0.013216618|78.34%
View 16hpc01701_s1 genome 11 rs56219745
dbSNP Clinvar
1092872 3014.55 C G LowQD 0/1 1571 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None MUC2|0.013216618|78.34%
View 16hpc01701_s1 genome 11 rs112894065
dbSNP Clinvar
1092516 48.69 G A LowQD 0/1 109 SYNONYMOUS_CODING LOW None 0.00140 0.02676 None None None None None None MUC2|0.013216618|78.34%
View 16hpc01701_s1 genome 11 rs11245947
dbSNP Clinvar
1093057 893.73 A G LowQD 0/1 664 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None MUC2|0.013216618|78.34%
View 16hpc01701_s1 genome 11 rs56365200
dbSNP Clinvar
1093066 721.45 C A LowQD 0/1 551 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None MUC2|0.013216618|78.34%
View 16hpc01701_s1 genome 11 rs12575990
dbSNP Clinvar
1093072 203.69 G C LowQD 0/1 499 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None MUC2|0.013216618|78.34%
View 16hpc01701_s1 genome 11 rs34136803
dbSNP Clinvar
1093452 383.51 G A LowQD 0/1 465 SYNONYMOUS_CODING LOW None None None None None None None MUC2|0.013216618|78.34%
View 16hpc01701_s1 genome 11 rs56189540
dbSNP Clinvar
1093507 624.96 A G LowQD 0/1 335 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None MUC2|0.013216618|78.34%
View 16hpc01701_s1 genome 11 rs34493663
dbSNP Clinvar
1093512 673.03 C A LowQD 0/1 362 SYNONYMOUS_CODING LOW None None None None None None None MUC2|0.013216618|78.34%
View 16hpc01701_s1 genome 11 rs75494928
dbSNP Clinvar
1092420 151.31 G T LowQD 0/1 107 SYNONYMOUS_CODING LOW None None None None None None None MUC2|0.013216618|78.34%
View 16hpc01701_s1 genome 11 rs79238439
dbSNP Clinvar
1093549 106.62 G C LowQD 0/1 400 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None MUC2|0.013216618|78.34%

MUC3A

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 16hpc01701_s1 genome 7 rs79685001
dbSNP Clinvar
100552733 62.11 C G LowQD 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.01158 0.01158 0.00698 0.26 0.13 None None None None None None MUC3A|0.001683398|91.94%

MUC4

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 16hpc01701_s1 genome 3 rs200288689
dbSNP Clinvar
195506421 150.07 A G LowQD 0/1 123 SYNONYMOUS_CODING LOW None 0.19169 0.19170 None None None None None None MUC4|0.005441696|85.29%
View 16hpc01701_s1 genome 3 rs182908415
dbSNP Clinvar
195506178 32.23 G T LowQD 0/1 66 SYNONYMOUS_CODING LOW None 0.00579 0.00579 None None None None None None MUC4|0.005441696|85.29%
View 16hpc01701_s1 genome 3 rs75610733
dbSNP Clinvar
195506227 54.4 C G LowQD 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.00759 0.00759 0.00 None None None None None None MUC4|0.005441696|85.29%
View 16hpc01701_s1 genome 3 rs199815527
dbSNP Clinvar
195506156 61.5 G C LowQD 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.01398 0.01398 0.00 None None None None None None MUC4|0.005441696|85.29%
View 16hpc01701_s1 genome 3 rs199748333
dbSNP Clinvar
195506099 36.06 T C LowQD 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.08926 0.00 None None None None None None MUC4|0.005441696|85.29%
View 16hpc01701_s1 genome 3 rs144160315
dbSNP Clinvar
195506354 126.2 C G LowQD 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.16554 0.16550 0.01 None None None None None None MUC4|0.005441696|85.29%
View 16hpc01701_s1 genome 3 rs201892104
dbSNP Clinvar
195515499 189.84 C T LowQD 0/1 97 SYNONYMOUS_CODING LOW None 0.00080 0.00080 None None None None None None MUC4|0.005441696|85.29%
View 16hpc01701_s1 genome 3 rs374442723
dbSNP Clinvar
195507338 140.11 A C LowQD 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None MUC4|0.005441696|85.29%
View 16hpc01701_s1 genome 3 rs75737861
dbSNP Clinvar
195507365 131.8 G A LowQD 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.03854 0.03854 0.65 None None None None None None MUC4|0.005441696|85.29%
View 16hpc01701_s1 genome 3 . 195510155 65.71 C T LowQD 0/1 350 NON_SYNONYMOUS_CODING MODERATE None 0.04 None None None None None None MUC4|0.005441696|85.29%
View 16hpc01701_s1 genome 3 rs879682876
dbSNP Clinvar
195507827 91.96 G A LowQD 0/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.52975 0.52980 0.00 None None None None None None MUC4|0.005441696|85.29%
View 16hpc01701_s1 genome 3 rs879868571
dbSNP Clinvar
195507846 146.96 C G LowQD 0/1 111 SYNONYMOUS_CODING LOW None 0.54832 0.54830 None None None None None None MUC4|0.005441696|85.29%
View 16hpc01701_s1 genome 3 rs74957513
dbSNP Clinvar
195507858 218.14 G T LowQD 0/1 127 SYNONYMOUS_CODING LOW None 0.54872 0.54870 None None None None None None MUC4|0.005441696|85.29%