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FREQUENCIES

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
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Genes at Omim

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, MCM3AP, NRIP1, PCNT, PFKL, PIGP, RIPK4, RSPH1, SIK1, SON, SYNJ1, TMPRSS15, TMPRSS3, TSPEAR,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
CLDN14 Deafness, autosomal recessive 29, 614035 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COL6A2 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
?Myosclerosis, congenital, 255600 (3)
ITGB2 Leukocyte adhesion deficiency, 116920 (3)
KCNE1 Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Long QT syndrome 5, 613695 (3)
KCNJ6 Keppen-Lubinsky syndrome, 614098 (3)
LIPI {Hypertriglyceridemia, susceptibility to}, 145750 (3)
LSS Cataract 44, 616509 (3)
Hypotrichosis 14, 618275 (3)
MCM3AP Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3)
NRIP1 ?Congenital anomalies of kidney and urinary tract 3, 618270 (3)
PCNT Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PFKL Hemolytic anemia due to phosphofructokinase deficiency (1)
PIGP ?Epileptic encephalopathy, early infantile, 55, 617599 (3)
RIPK4 CHAND syndrome, 214350 (3)
Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
RSPH1 Ciliary dyskinesia, primary, 24, 615481 (3)
SIK1 Epileptic encephalopathy, early infantile, 30, 616341 (3)
SON ZTTK syndrome, 617140 (3)
SYNJ1 Epileptic encephalopathy, early infantile, 53, 617389 (3)
Parkinson disease 20, early-onset, 615530 (3)
TMPRSS15 Enterokinase deficiency, 226200 (3)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (3)
TSPEAR Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 (3)
?Deafness, autosomal recessive 98, 614861 (3)

Genes at Clinical Genomics Database

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, NRIP1, PCNT, RIPK4, RSPH1, SIK1, TMPRSS15, TMPRSS3, TSPEAR,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
CBS Homocystinuria due to cystathionine beta-synthase deficiency
CLDN14 Deafness, autosomal recessive 29
COL18A1 Knobloch syndrome 1
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
COL6A2 Ullrich congenital muscular dystrophy 1
Myosclerosis, congenital
Bethlem myopathy 1
Epilepsy, progressive myoclonic, autosomal recessive
ITGB2 Leukocyte adhesion deficiency, type I
KCNE1 Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
KCNJ6 Keppen-Lubinsky syndrome
LIPI Hypertriglyceridemia, familial
LSS Cataract 44
NRIP1 Schizophrenia
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
RIPK4 Popliteal pterygium syndrome, lethal type
Bartsocas-Papas syndrome
RSPH1 Ciliary dyskinesia, primary, 24
SIK1 Epileptic encephalopathy, early infantile 30
TMPRSS15 Enterokinase deficiency
TMPRSS3 Deafness, autosomal recessive 10
Deafness, autosomal recessive 8
TSPEAR Deafness, autosomal recessive 98

Genes at HGMD

Summary

Number of Variants: 868
Number of Genes: 119

Export to: CSV

ADAMTS1

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 grc14378022_exome 21 rs445784
dbSNP Clinvar
28216692 528.503 G T . 0/1 46 SYNONYMOUS_CODING LOW None 0.67812 0.67810 0.16880 None None None None None None ADAMTS1|0.304173311|27.34%
View grc14378022_exome 21 rs436525
dbSNP Clinvar
28212760 1484.13 G A . 0/1 106 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.32493 None None None None None None ADAMTS1|0.304173311|27.34%
View grc14378022_exome 21 rs428785
dbSNP Clinvar
28216595 806.846 C G . 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.68910 0.68910 0.18987 0.25 0.00 None None None None None None ADAMTS1|0.304173311|27.34%
View grc14378022_exome 21 rs409630
dbSNP Clinvar
28216674 1484.13 G C . 0/1 95 SYNONYMOUS_CODING LOW None 0.17672 0.17670 0.15723 None None None None None None ADAMTS1|0.304173311|27.34%
View grc14378022_exome 21 rs434857
dbSNP Clinvar
28217178 1132.8 T G . 0/1 35 SYNONYMOUS_CODING LOW None 0.68890 0.68890 0.17773 None None None None None None ADAMTS1|0.304173311|27.34%

ADAMTS5

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 grc14378022_exome 21 rs2830585
dbSNP Clinvar
28305212 1484.13 C T . 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.09884 0.09884 0.13002 0.01 1.00 None None None None None None ADAMTS5|0.324991256|25.8%
View grc14378022_exome 21 rs226794
dbSNP Clinvar
28302355 150.384 A G . 1/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.80970 0.80970 0.08527 1.00 0.00 None None None None None None ADAMTS5|0.324991256|25.8%
View grc14378022_exome 21 rs3746840
dbSNP Clinvar
28338581 46.7636 G T . 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.04113 0.04113 0.01909 0.38 0.01 None None None None None None ADAMTS5|0.324991256|25.8%
View grc14378022_exome 21 rs78037991
dbSNP Clinvar
28338425 1484.13 G A . 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.00779 0.00779 0.01430 0.00 0.94 None None None None None None ADAMTS5|0.324991256|25.8%

ADARB1

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 grc14378022_exome 21 rs1051367
dbSNP Clinvar
46641968 1484.13 G A . 0/1 132 SYNONYMOUS_CODING LOW None 0.49401 0.49400 0.49692 None None None None None None ADARB1|0.037848146|66.51%

AIRE

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 grc14378022_exome 21 rs1133779
dbSNP Clinvar
45717550 383.799 T C . 1/1 21 SYNONYMOUS_CODING LOW None 0.53035 0.53040 0.49438 None None None None None None AIRE|0.006628229|83.92%
View grc14378022_exome 21 rs1800520
dbSNP Clinvar
45709906 1484.13 C G . 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.22824 0.22820 0.15638 1.00 0.00 None None None None None None AIRE|0.006628229|83.92%

AP001579.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378022_exome 21 rs2838770
dbSNP Clinvar
46492897 395.09 G C . 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.27197 0.27200 0.58 None None None None None None None

ATP5O

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 grc14378022_exome 21 rs4591
dbSNP Clinvar
35281393 319.953 A G . 0/1 32 SYNONYMOUS_CODING LOW None 0.70208 0.70210 0.29940 None None None None None None ATP5O|0.055947808|60.93%
View grc14378022_exome 21 rs78234759
dbSNP Clinvar
35284683 24.992 A G . 1/1 34 SYNONYMOUS_CODING LOW None 0.03055 0.03055 0.03768 None None None None None None ATP5O|0.055947808|60.93%

B3GALT5

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 grc14378022_exome 21 rs3746887
dbSNP Clinvar
41032740 984.704 T C . 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.65336 0.65340 0.31493 1.00 0.00 None None None None None None B3GALT5|0.004441095|86.45%
View grc14378022_exome 21 rs734413
dbSNP Clinvar
41032804 1484.13 G A . 1/1 49 SYNONYMOUS_CODING LOW None 0.62939 0.62940 0.33746 None None None None None None B3GALT5|0.004441095|86.45%

BACE2

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 grc14378022_exome 21 rs1046210
dbSNP Clinvar
42622786 1136.63 C T . 0/1 33 SYNONYMOUS_CODING LOW None 0.41893 0.41890 0.30132 None None None None None None BACE2|0.031049204|68.94%

BACH1

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 grc14378022_exome 21 rs388707
dbSNP Clinvar
30714776 1484.13 T C . 0/1 75 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.49285 None None None None None None BACH1|0.113830282|48.51%

BRWD1

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 grc14378022_exome 21 rs2836972
dbSNP Clinvar
40652142 660.804 G A . 0/1 36 SYNONYMOUS_CODING LOW None 0.21506 0.21510 0.33308 None None None None None None BRWD1|0.163713366|41.06%
View grc14378022_exome 21 . 40636586 14.7301 G T . 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None BRWD1|0.163713366|41.06%
View grc14378022_exome 21 rs1041439
dbSNP Clinvar
40571246 1484.13 A G . 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.85284 0.85280 0.05336 0.52 0.00 None None None None None None BRWD1|0.163713366|41.06%
View grc14378022_exome 21 rs2183573
dbSNP Clinvar
40574305 203.311 A G . 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.61861 0.61860 0.40143 0.03 0.01 None None None None None None BRWD1|0.163713366|41.06%
View grc14378022_exome 21 rs6517529
dbSNP Clinvar
40584598 1484.13 C T . 1/1 66 SYNONYMOUS_CODING LOW None 0.85164 0.85160 0.05362 None None None None None None BRWD1|0.163713366|41.06%

C21orf128

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 grc14378022_exome 21 rs220111
dbSNP Clinvar
43523941 181.528 C A . 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.30631 0.30630 0.30740 0.03 0.74 None None None None None None UMODL1|0.002901681|88.83%,UMODL1-AS1|0.000431351|98.79%

C21orf49

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 grc14378022_exome 21 rs72564613
dbSNP Clinvar
34169317 1484.13 C CT . 0/1 52 FRAME_SHIFT HIGH None 0.73183 0.73180 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%

C21orf62

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 grc14378022_exome 21 rs74617086
dbSNP Clinvar
34166190 1484.13 A T . 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%
View grc14378022_exome 21 rs2231390
dbSNP Clinvar
34166343 1484.13 C T . 0/1 90 SYNONYMOUS_CODING LOW None 0.72744 0.72740 0.28794 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%

C21orf67

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 grc14378022_exome 21 rs11088971
dbSNP Clinvar
46355710 1484.13 A G . 0/1 146 SYNONYMOUS_CODING LOW None 0.46286 0.46290 0.49737 None None None None None None LINC01547|0.001110417|94.89%

C2CD2

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 grc14378022_exome 21 rs3746906
dbSNP Clinvar
43327856 1484.13 A G . 0/1 116 SYNONYMOUS_CODING LOW None 0.60743 0.60740 0.36568 None None None None None None C2CD2|0.005649792|85.05%
View grc14378022_exome 21 rs3746904
dbSNP Clinvar
43327793 1484.13 C T . 0/1 95 SYNONYMOUS_CODING LOW None 0.36582 0.36580 0.35322 None None None None None None C2CD2|0.005649792|85.05%

CBR3

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 grc14378022_exome 21 rs1056892
dbSNP Clinvar
37518706 676.38 G A . 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.42712 0.42710 0.39874 0.07 0.35 None None None None None None CBR3|0.052541759|61.89%
View grc14378022_exome 21 rs881711
dbSNP Clinvar
37507745 1484.13 C T . 1/1 157 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%

CBS

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 grc14378022_exome 21 rs1801181
dbSNP Clinvar
44480616 1484.13 G A . 0/1 107 SYNONYMOUS_CODING LOW None 0.29553 0.29550 0.26269 None None None None None None CBS|0.170288794|40.28%

CLDN14

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 grc14378022_exome 21 rs219779
dbSNP Clinvar
37833751 1484.13 G A . 0/1 72 SYNONYMOUS_CODING LOW None 0.19010 0.19010 0.27626 None None None None None None CLDN14|0.178050404|39.29%
View grc14378022_exome 21 rs113831133
dbSNP Clinvar
37833983 33.8433 G A . 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.04712 0.04712 0.04395 1.00 0.00 None None None None None None CLDN14|0.178050404|39.29%

CLDN8

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 grc14378022_exome 21 rs686364
dbSNP Clinvar
31587793 253.898 A G . 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.41873 0.41870 0.38428 1.00 0.00 None None None None None None CLDN8|0.022912612|72.76%

CLIC6

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 grc14378022_exome 21 rs6517254
dbSNP Clinvar
36080290 1484.13 C T . 0/1 73 SYNONYMOUS_CODING LOW None 0.37001 0.37000 0.46179 None None None None None None CLIC6|0.002510101|89.68%
View grc14378022_exome 21 rs7280973
dbSNP Clinvar
36041978 70.9693 A G . 1/1 12 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%
View grc14378022_exome 21 rs9680380
dbSNP Clinvar
36042203 1484.13 G C . 1/1 80 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%

COL18A1

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 grc14378022_exome 21 rs914230
dbSNP Clinvar
46875564 1484.13 T C . 1/1 185 SYNONYMOUS_CODING LOW None 0.98842 0.98840 0.03067 None None None None None None COL18A1|0.045578537|64.02%
View grc14378022_exome 21 rs1050351
dbSNP Clinvar
46929467 983.246 G A . 1/1 26 SYNONYMOUS_CODING LOW None 0.50359 0.50360 0.37778 None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View grc14378022_exome 21 rs149296338,rs78227997
dbSNP Clinvar
46924425 1484.13 CG... C,... . 1/1 86 NON_SYNONYMOUS_CODING+CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View grc14378022_exome 21 rs11702425
dbSNP Clinvar
46908355 1484.13 T C . 0/1 209 SYNONYMOUS_CODING LOW None 0.31989 0.31990 0.31287 None None None None None None COL18A1|0.045578537|64.02%
View grc14378022_exome 21 rs2236451
dbSNP Clinvar
46876083 1484.13 A G . 0/1 92 SYNONYMOUS_CODING LOW None 0.37560 0.37560 0.38293 None None None None None None COL18A1|0.045578537|64.02%

COL6A1

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 grc14378022_exome 21 rs13051496
dbSNP Clinvar
47423509 25.6147 C T . 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.10883 0.10880 0.16187 0.06 0.32 None None None None None None COL6A1|0.085741402|53.99%
View grc14378022_exome 21 rs74852641
dbSNP Clinvar
47419603 1484.13 G A . 0/1 174 SYNONYMOUS_CODING LOW None 0.05232 0.05232 0.03576 None None None None None None COL6A1|0.085741402|53.99%
View grc14378022_exome 21 rs138884734
dbSNP Clinvar
47421960 1484.13 T C . 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.01138 0.01138 0.01385 0.00 1.00 None None None None None None COL6A1|0.085741402|53.99%

COL6A2

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 grc14378022_exome 21 rs2839110
dbSNP Clinvar
47538960 1484.13 G A . 0/1 180 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.27077 0.91 0.00 None None None None None None COL6A2|0.07894144|55.42%
View grc14378022_exome 21 rs1042930
dbSNP Clinvar
47551998 1484.13 G A . 0/1 94 SYNONYMOUS_CODING LOW None 0.01138 0.01138 0.01043 None None None None None None COL6A2|0.07894144|55.42%

CYYR1

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 grc14378022_exome 21 rs966410
dbSNP Clinvar
27852724 1484.13 A G . 1/1 42 None None None 0.45667 0.45670 0.49116 None None None None None None CYYR1|0.026615152|71.08%

DIP2A

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 grc14378022_exome 21 rs1107065
dbSNP Clinvar
47974582 1484.13 A G . 0/1 207 SYNONYMOUS_CODING LOW None 0.33167 0.33170 0.35504 None None None None None None DIP2A|0.064095824|58.86%
View grc14378022_exome 21 rs16979312
dbSNP Clinvar
47949017 1484.13 G A . 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.04912 0.04912 0.04430 0.02 0.95 None None None None None None DIP2A|0.064095824|58.86%
View grc14378022_exome 21 rs2248636
dbSNP Clinvar
47985655 1484.13 C T . 0/1 80 SYNONYMOUS_CODING LOW None 0.12001 0.12000 0.06148 None None None None None None DIP2A|0.064095824|58.86%
View grc14378022_exome 21 rs7279002
dbSNP Clinvar
47910523 1484.13 A G . 1/1 124 SYNONYMOUS_CODING LOW None 0.35883 0.35880 0.29676 None None None None None None DIP2A|0.064095824|58.86%
View grc14378022_exome 21 rs2070435
dbSNP Clinvar
47961711 1484.13 G A . 0/1 85 SYNONYMOUS_CODING LOW None 0.38738 0.38740 0.37032 None None None None None None DIP2A|0.064095824|58.86%

DNMT3L

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 grc14378022_exome 21 rs113593938
dbSNP Clinvar
45670790 1484.13 C T . 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00361 0.10 0.02 None None None None None None DNMT3L|0.006860897|83.61%

DOPEY2

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 grc14378022_exome 21 rs2835322
dbSNP Clinvar
37609571 1484.13 T C,A . 0/1 80 SYNONYMOUS_CODING LOW None 0.43990 0.43990 0.47424 None None None None None None DOPEY2|0.051933664|62.08%
View grc14378022_exome 21 rs3746866
dbSNP Clinvar
37617724 1484.13 C A . 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.17153 0.17150 0.12325 0.00 0.57 None None None None None None DOPEY2|0.051933664|62.08%
View grc14378022_exome 21 rs3827183
dbSNP Clinvar
37661405 1484.13 G A . 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.14457 0.14460 0.11925 0.24 0.13 None None None None None None DOPEY2|0.051933664|62.08%
View grc14378022_exome 21 rs9978057
dbSNP Clinvar
37664501 14.0403 G A . 0/1 10 SYNONYMOUS_CODING LOW None 0.19449 0.19450 0.27188 None None None None None None DOPEY2|0.051933664|62.08%
View grc14378022_exome 21 rs4817788
dbSNP Clinvar
37617630 1484.13 T G . 1/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.94928 0.94930 0.09949 1.00 0.00 None None None None None None DOPEY2|0.051933664|62.08%

DSCAM

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 grc14378022_exome 21 rs34336407
dbSNP Clinvar
41684090 1484.13 C T . 0/1 126 SYNONYMOUS_CODING LOW None 0.07987 0.07987 0.07020 None None None None None None DSCAM|0.620706258|11.07%

ETS2

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 grc14378022_exome 21 rs457705
dbSNP Clinvar
40191431 14.7092 T G . 1/1 3 SYNONYMOUS_CODING LOW None 0.58107 0.58110 0.22874 None None None None None None ETS2|0.453014646|18.03%
View grc14378022_exome 21 rs461155
dbSNP Clinvar
40191638 149.735 A G . 1/1 16 SYNONYMOUS_CODING LOW None 0.58067 0.58070 0.22943 None None None None None None ETS2|0.453014646|18.03%

EVA1C

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 grc14378022_exome 21 rs1129157
dbSNP Clinvar
33887131 16.4217 G A . 1/1 5 SYNONYMOUS_CODING LOW None 0.49082 0.49080 0.37060 None None None None None None EVA1C|0.061100423|59.56%
View grc14378022_exome 21 rs8130653
dbSNP Clinvar
33840095 756.518 C T . 0/1 32 SYNONYMOUS_CODING LOW None 0.06530 0.06530 0.08558 None None None None None None EVA1C|0.061100423|59.56%

FAM207A

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 grc14378022_exome 21 rs2294168
dbSNP Clinvar
46387078 135.703 G T . 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.10923 0.10920 0.11783 0.07 0.56 None None None None None None FAM207A|0.005455719|85.27%
View grc14378022_exome 21 rs3737075
dbSNP Clinvar
46396659 792.809 G C . 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.15216 0.15220 0.17443 1.00 0.00 None None None None None None FAM207A|0.005455719|85.27%

FAM3B

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 grc14378022_exome 21 rs417708
dbSNP Clinvar
42717662 1484.13 T C . 1/1 29 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

GART

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 grc14378022_exome 21 rs8788
dbSNP Clinvar
34897113 108.473 C T . 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.87420 0.87420 0.19160 1.00 0.00 None None None None None None GART|0.670681358|9.36%

GRIK1

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 grc14378022_exome 21 rs363538
dbSNP Clinvar
31062070 1484.13 T G . 0/1 53 SYNONYMOUS_CODING LOW None 0.34026 0.34030 0.26911 None None None None None None GRIK1|0.993633799|0.9%

HSPA13

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 grc14378022_exome 21 rs9981182
dbSNP Clinvar
15746310 1484.13 G T . 0/1 45 SYNONYMOUS_CODING LOW None 0.01857 0.01857 0.01569 None None None None None None HSPA13|0.247029422|31.82%

HUNK

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 grc14378022_exome 21 rs2070371
dbSNP Clinvar
33368188 1484.13 T C . 1/1 47 SYNONYMOUS_CODING LOW None 0.70308 0.70310 0.25704 None None None None None None HUNK|0.065973255|58.37%
View grc14378022_exome 21 rs10775648
dbSNP Clinvar
33371123 1484.13 C T . 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.20986 0.20990 0.17769 0.01 0.72 None None None None None None HUNK|0.065973255|58.37%
View grc14378022_exome 21 rs9305483
dbSNP Clinvar
33370900 1484.13 T C . 1/1 81 SYNONYMOUS_CODING LOW None 0.63478 0.63480 0.38182 None None None None None None HUNK|0.065973255|58.37%

IGSF5

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 grc14378022_exome 21 rs8129968
dbSNP Clinvar
41142932 1039.31 C T . 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.10643 0.10640 0.08988 0.00 0.86 None None None None None None IGSF5|0.001638685|92.17%
View grc14378022_exome 21 rs2837200
dbSNP Clinvar
41142940 508.275 G A . 0/1 53 SYNONYMOUS_CODING LOW None 0.10164 0.10160 0.22882 None None None None None None IGSF5|0.001638685|92.17%

ITGB2

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 grc14378022_exome 21 rs235330
dbSNP Clinvar
46314907 1484.13 T A . 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00015 0.03 0.01 None None None None None None ITGB2|0.063174571|59.06%
View grc14378022_exome 21 rs11088969
dbSNP Clinvar
46330674 1484.13 C A . 0/1 143 SYNONYMOUS_CODING LOW None 0.21306 0.21310 0.21716 None None None None None None ITGB2|0.063174571|59.06%
View grc14378022_exome 21 rs235326
dbSNP Clinvar
46311813 1484.13 A G . 0/1 150 SYNONYMOUS_CODING LOW None 0.76298 0.76300 0.24985 None None None None None None ITGB2|0.063174571|59.06%

ITSN1

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 grc14378022_exome 21 rs2073370
dbSNP Clinvar
35260481 1484.13 T C . 0/1 63 SYNONYMOUS_CODING LOW None 0.57568 0.57570 0.44887 None None None None None None ITSN1|0.349350199|24.18%
View grc14378022_exome 21 rs9976801
dbSNP Clinvar
35237608 1484.13 T C . 0/1 39 SYNONYMOUS_CODING LOW None 0.83167 0.83170 0.23758 None None None None None None ITSN1|0.349350199|24.18%

KCNE1

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 grc14378022_exome 21 rs1805127
dbSNP Clinvar
35821821 1484.13 T C,A . 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.67392 0.67390 0.33808 0.44 0.00 None None None None None None KCNE1|0.029341968|69.68%

KCNJ15

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 grc14378022_exome 21 rs2230033
dbSNP Clinvar
39671476 30.6955 G A . 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.28874 0.28870 0.40289 0.31 0.00 None None None None None None KCNJ15|0.071459317|57.1%

KCNJ6

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 grc14378022_exome 21 rs702859
dbSNP Clinvar
38997701 816.36 G A . 1/1 25 SYNONYMOUS_CODING LOW None 0.77396 0.77400 0.27456 None None None None None None KCNJ6|0.413743485|19.94%
View grc14378022_exome 21 rs2070995
dbSNP Clinvar
39086965 1434.3 T C . 1/1 28 SYNONYMOUS_CODING LOW None 0.82328 0.82330 0.16199 None None None None None None KCNJ6|0.413743485|19.94%

KRTAP10-1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378022_exome 21 rs233320
dbSNP Clinvar
45959918 1484.13 G A . 0/1 210 NON_SYNONYMOUS_CODING MODERATE None 0.60982 0.60980 0.31257 0.05 0.73 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View grc14378022_exome 21 rs233317
dbSNP Clinvar
45959312 1484.13 C T . 0/1 382 NON_SYNONYMOUS_CODING MODERATE None 0.80851 0.80850 0.17392 0.02 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View grc14378022_exome 21 rs233316
dbSNP Clinvar
45959195 1484.13 G A . 0/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.62181 0.62180 0.30931 0.13 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View grc14378022_exome 21 rs62218859
dbSNP Clinvar
45959559 1484.13 C A . 0/1 218 NON_SYNONYMOUS_CODING MODERATE None 0.60204 0.60200 0.32400 0.05 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View grc14378022_exome 21 rs233318
dbSNP Clinvar
45959386 1484.13 G A . 0/1 573 SYNONYMOUS_CODING LOW None 0.57448 0.57450 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View grc14378022_exome 21 rs62218857
dbSNP Clinvar
45959557 1484.13 A T . 0/1 222 NON_SYNONYMOUS_CODING MODERATE None 0.60204 0.60200 0.10372 0.43 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View grc14378022_exome 21 rs62218858
dbSNP Clinvar
45959558 1484.13 T G . 0/1 215 NON_SYNONYMOUS_CODING MODERATE None 0.60204 0.60200 0.11410 1.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View grc14378022_exome 21 rs233319
dbSNP Clinvar
45959733 1484.13 C T . 0/1 382 NON_SYNONYMOUS_CODING MODERATE None 0.59465 0.59460 0.10 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%

KRTAP10-10

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 grc14378022_exome 21 rs13051517
dbSNP Clinvar
46058060 1484.13 C T . 0/1 190 SYNONYMOUS_CODING LOW None 0.35583 0.35580 0.35170 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%
View grc14378022_exome 21 rs2838602
dbSNP Clinvar
46057393 1484.13 T A . 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.78175 0.78170 0.23289 1.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%
View grc14378022_exome 21 rs9306108
dbSNP Clinvar
46057391 1484.13 A G . 0/1 140 SYNONYMOUS_CODING LOW None 0.38738 0.38740 0.34307 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%
View grc14378022_exome 21 rs782171437
dbSNP Clinvar
46057625 1484.13 TG... T . 0/1 61 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%
View grc14378022_exome 21 rs4818948
dbSNP Clinvar
46057711 1484.13 G C . 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.27516 0.27520 0.31824 0.03 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%