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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 140

+ Genes associated with diseases 27

Genes at Omim

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, IFNAR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, MCM3AP, NRIP1, PCNT, PFKL, PIGP, RIPK4, RSPH1, SIK1, SON, SYNJ1, TMPRSS15, TMPRSS3, WDR4,
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)
CRYAA Cataract 9, multiple types, 604219 (3)
FTCD Glutamate formiminotransferase deficiency, 229100 (3)
IFNAR2 {Hepatitis B virus, susceptibility to}, 610424 (3)
?Immunodeficiency 45, 616669 (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)
WDR4 Galloway-Mowat syndrome 6, 618347 (3)
Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3)

Genes at Clinical Genomics Database

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, IFNAR2, IL10RB, ITGB2, KCNE1, KCNJ6, LIPI, LSS, NRIP1, PCNT, RIPK4, RSPH1, SIK1, TMPRSS15, TMPRSS3,
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
CRYAA Cataract 9, multiple types
FTCD Glutamate formiminotransferase deficiency
IFNAR2 Immunodeficiency 45
IL10RB Inflammatory bowel disease 25, early onset, 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

Genes at HGMD

Summary

Number of Variants: 659
Number of Genes: 140

Export to: CSV
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 46651510241455_annotated 21 rs379724
dbSNP Clinvar 		15596683 33.77 G A PASS 0/1 3 None None None 0.16234 0.16230 None None None None None None RBM11|0.04162985|65.26%
View 46651510241455_annotated 21 rs11284347,rs397867445
dbSNP Clinvar 		46935077 34.73 TA T PASS 0/1 15 None None None 0.58986 0.58990 None None None None None None SLC19A1|0.006805855|83.69%
View 46651510241455_annotated 21 rs2254297
dbSNP Clinvar 		15652069 37.77 A G PASS 0/1 11 None None None 0.40096 0.40100 None None None None None None None
View 46651510241455_annotated 21 rs372061766
dbSNP Clinvar 		9825838 42.73 T TGTG PASS 0/1 10 None None None None None None None None None None
View 46651510241455_annotated 21 rs35874964,rs397866379
dbSNP Clinvar 		45670869 43.79 CG C PASS 0/1 4 None None None 0.09784 0.09784 0.08595 None None None None None None DNMT3L|0.006860897|83.61%
View 46651510241455_annotated 21 rs752963406
dbSNP Clinvar 		11059846 49.77 G A PASS 0/1 19 None None None None None None None None None None
View 46651510241455_annotated 21 rs2705666
dbSNP Clinvar 		30315681 52.77 T A PASS 0/1 9 None None None 0.21126 0.21130 0.18649 None None None None None None LTN1|0.18396832|38.5%
View 46651510241455_annotated 21 rs7279599
dbSNP Clinvar 		11059852 62.77 G A PASS 0/1 23 None None None None None None None None None None
View 46651510241455_annotated 21 rs13051066
dbSNP Clinvar 		36164405 65.77 G T PASS 0/1 6 None None None 0.37061 0.37060 None None None None None None RUNX1|0.998765461|0.45%
View 46651510241455_annotated 21 rs2747231
dbSNP Clinvar 		14778811 67.28 C T SNP_QC 1/1 3 None None None 0.98103 0.98100 None None None None None None None
View 46651510241455_annotated 21 rs2243552
dbSNP Clinvar 		30318466 67.77 T G PASS 0/1 25 None None None 0.40775 0.40770 0.29062 None None None None None None LTN1|0.18396832|38.5%
View 46651510241455_annotated 21 rs2850173
dbSNP Clinvar 		47412751 68.77 A C PASS 0/1 20 None None None 0.87141 0.87140 0.12096 None None None None None None COL6A1|0.085741402|53.99%
View 46651510241455_annotated 21 rs2248820
dbSNP Clinvar 		34837623 74.77 C A PASS 0/1 28 None None None 0.68411 0.68410 0.42496 None None None None None None IFNGR2|0.002693249|89.26%,TMEM50B|0.230335822|33.34%
View 46651510241455_annotated 21 rs2297258
dbSNP Clinvar 		40684861 76.78 C G PASS 0/1 4 None None None 0.84625 0.84620 0.05421 None None None None None None BRWD1|0.163713366|41.06%
View 46651510241455_annotated 21 rs743503
dbSNP Clinvar 		47540573 77.77 G A PASS 0/1 7 None None None 0.29133 0.29130 None None None None None None COL6A2|0.07894144|55.42%

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 46651510241455_annotated 21 rs13049239
dbSNP Clinvar 		36042584 78.77 G A PASS 0/1 9 SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.14250 None None None None None None CLIC6|0.002510101|89.68%
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 46651510241455_annotated 21 rs3835286,rs397867928
dbSNP Clinvar 		46929522 79.73 GC G PASS 0/1 13 None None None 0.55491 0.55490 0.49989 None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 46651510241455_annotated 21 rs77547988
dbSNP Clinvar 		11059841 80.77 C T PASS 0/1 16 None None None None None None None None None None
View 46651510241455_annotated 21 rs2236001
dbSNP Clinvar 		15646405 83.77 C A PASS 0/1 9 None None None 0.14657 0.14660 None None None None None None None
View 46651510241455_annotated 21 rs7282163
dbSNP Clinvar 		31002803 89.77 G T PASS 0/1 19 None None None 0.24681 0.24680 None None None None None None BACH1|0.113830282|48.51%,GRIK1|0.993633799|0.9%,GRIK1-AS2|0.001444575|93.08%

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 46651510241455_annotated 21 rs9680380
dbSNP Clinvar 		36042203 93.03 G C PASS 1/1 4 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%
View 46651510241455_annotated 21 rs13049028
dbSNP Clinvar 		36042579 93.77 C G PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.22284 0.22280 0.15756 0.69 0.00 None None None None None None CLIC6|0.002510101|89.68%
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 46651510241455_annotated 21 rs141212516,rs386394882,rs377432980,rs386365935
dbSNP Clinvar 		47418728 99.73 C CT PASS 0/1 10 None None None 0.86142 0.86140 None None None None None None COL6A1|0.085741402|53.99%

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 46651510241455_annotated 21 rs3746904
dbSNP Clinvar 		43327793 102.77 C T PASS 0/1 11 SYNONYMOUS_CODING LOW None 0.36582 0.36580 0.35322 None None None None None None C2CD2|0.005649792|85.05%
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 46651510241455_annotated 21 rs56242109
dbSNP Clinvar 		45757631 103.77 G A PASS 0/1 6 None None None 0.26538 0.26540 0.23281 None None None None None None C21orf2|0.021974871|73.18%
View 46651510241455_annotated 21 rs3746995
dbSNP Clinvar 		47544541 119.77 C G PASS 0/1 17 None None None 0.41401 None None None None None None COL6A2|0.07894144|55.42%
View 46651510241455_annotated 21 rs73151874
dbSNP Clinvar 		11098723 121.77 T C PASS 0/1 59 None None None 0.07109 0.07109 None None None None None None None
View 46651510241455_annotated 21 rs2298450
dbSNP Clinvar 		37623447 123.77 C T PASS 0/1 30 None None None 0.38958 0.38960 0.40186 None None None None None None DOPEY2|0.051933664|62.08%

KRTAP10-5
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 46651510241455_annotated 21 rs464424
dbSNP Clinvar 		45999753 125.77 C G PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.11761 0.11760 0.06513 0.03 0.92 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-5|0.002534474|89.6%
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 46651510241455_annotated 21 rs113315187
dbSNP Clinvar 		11098728 127.77 C T PASS 0/1 56 None None None None None None None None None None

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 46651510241455_annotated 21 rs149296338,rs78227997
dbSNP Clinvar 		46924425 127.87 CG... C PASS 1/1 5 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
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 46651510241455_annotated 21 rs1515755
dbSNP Clinvar 		44118958 130.77 T A PASS 0/1 11 None None None 0.76398 0.76400 None None None None None None PDE9A|0.049410429|62.84%
View 46651510241455_annotated 21 rs57726121
dbSNP Clinvar 		15524843 139.9 A G PASS 1/1 5 None None None 0.42832 0.42830 0.34414 None None None None None None LIPI|0.027450364|70.67%
View 46651510241455_annotated 21 rs7279242
dbSNP Clinvar 		43533985 141.77 G T PASS 0/1 25 None None None 0.03734 0.03734 0.02891 None None None None None None UMODL1|0.002901681|88.83%

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 46651510241455_annotated 21 rs6517529
dbSNP Clinvar 		40584598 144.77 C T PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.85164 0.85160 0.05362 None None None None None None BRWD1|0.163713366|41.06%

FTCD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 46651510241455_annotated 21 rs1047179
dbSNP Clinvar 		47558473 156.77 G C PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.48103 0.48100 0.47133 None None None None None None FTCD|0.026135815|71.26%
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 46651510241455_annotated 21 rs1542800
dbSNP Clinvar 		18914370 158.77 T A PASS 0/1 8 None None None 0.20527 0.20530 None None None None None None CXADR|0.080142991|55.13%
View 46651510241455_annotated 21 rs760345
dbSNP Clinvar 		15893594 162.9 T C PASS 1/1 5 None None None 0.47863 0.47860 0.45951 None None None None None None SAMSN1|0.290908658|28.32%
View 46651510241455_annotated 21 rs75278999
dbSNP Clinvar 		11059853 171.77 C T PASS 0/1 22 None None None None None None None None None None

C21orf2
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 46651510241455_annotated 21 rs11870
dbSNP Clinvar 		45759045 171.77 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.32608 0.32610 0.24219 None None None None None None C21orf2|0.021974871|73.18%
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 46651510241455_annotated 21 rs200755576
dbSNP Clinvar 		46554604 176.73 AT A PASS 0/1 28 None None None None None None None None None ADARB1|0.037848146|66.51%
View 46651510241455_annotated 21 rs1107831
dbSNP Clinvar 		44274845 176.77 A G PASS 0/1 34 None None None 0.35144 0.35140 None None None None None None WDR4|0.025778216|71.43%
View 46651510241455_annotated 21 rs960231
dbSNP Clinvar 		42622657 178.77 G C PASS 0/1 38 None None None 0.80691 0.80690 0.28917 None None None None None None BACE2|0.031049204|68.94%
View 46651510241455_annotated 21 rs3737437
dbSNP Clinvar 		47417975 181.77 A G PASS 0/1 20 None None None 0.88339 0.88340 0.11793 None None None None None None COL6A1|0.085741402|53.99%
View 46651510241455_annotated 21 rs7364059
dbSNP Clinvar 		11059877 182.77 T C PASS 0/1 21 None None None None None None None None None None
View 46651510241455_annotated 21 rs750263757,rs34865572
dbSNP Clinvar 		34635079 183.74 CT C PASS 1/1 10 None None None None None None None None None IFNAR2|0.001133002|94.77%

TPTE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 46651510241455_annotated 21 rs144623440
dbSNP Clinvar 		10906910 190.77 C T SNP_QC 0/1 402 NON_SYNONYMOUS_CODING MODERATE None 0.00131 0.00 0.10 None None None None None None TPTE|0.001635216|92.18%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 46651510241455_annotated 21 rs5844259,rs397698308
dbSNP Clinvar 		47635302 194.77 T TC PASS 1/1 7 None None None 1.00000 1.00000 None None None None None None LSS|0.346361251|24.39%
View 46651510241455_annotated 21 rs6517522
dbSNP Clinvar 		40553845 196.77 T C PASS 0/1 22 None None None 0.33526 0.33530 0.44668 None None None None None None PSMG1|0.212049337|35.36%
View 46651510241455_annotated 21 rs417301
dbSNP Clinvar 		28215987 198.77 T C PASS 0/1 27 None None None 0.68930 0.68930 None None None None None None ADAMTS1|0.304173311|27.34%

FAM3B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 46651510241455_annotated 21 rs417708
dbSNP Clinvar 		42717662 201.77 T C PASS 0/1 35 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

N6AMT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 46651510241455_annotated 21 rs61735765
dbSNP Clinvar 		30255347 203.77 C A PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.13618 0.13620 0.12602 0.04 None None None None None None N6AMT1|0.066620325|58.26%
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 46651510241455_annotated 21 rs536535871,rs375160164
dbSNP Clinvar 		46685560 209.73 AT... A PASS 0/1 25 None None None 0.34505 0.34500 None None None None None None POFUT2|0.013575894|78.14%
View 46651510241455_annotated 21 rs2775779
dbSNP Clinvar 		14760203 211.77 C T PASS 0/1 36 None None None 0.29693 0.29690 None None None None None None None
View 46651510241455_annotated 21 rs378280
dbSNP Clinvar 		15593495 214.77 T G PASS 0/1 17 None None None 0.23143 0.23140 0.25000 None None None None None None RBM11|0.04162985|65.26%

ICOSLG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 46651510241455_annotated 21 rs7278772
dbSNP Clinvar 		45649494 214.77 A G PASS 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None ICOSLG|0.0015876|92.37%
View 46651510241455_annotated 21 rs9974245
dbSNP Clinvar 		45649499 214.77 G A PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.00 None None None None None None ICOSLG|0.0015876|92.37%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 46651510241455_annotated 21 rs233894
dbSNP Clinvar 		28326276 221.77 G A PASS 0/1 16 None None None 0.88299 0.88300 None None None None None None ADAMTS5|0.324991256|25.8%
View 46651510241455_annotated 21 rs422803
dbSNP Clinvar 		28216038 224.77 C A PASS 0/1 40 None None None 0.68810 0.68810 None None None None None None ADAMTS1|0.304173311|27.34%
View 46651510241455_annotated 21 rs7279405
dbSNP Clinvar 		34128717 232.77 G A PASS 0/1 18 None None None 0.64257 0.64260 0.35814 None None None None None None PAXBP1|0.290693453|28.33%
View 46651510241455_annotated 21 rs2775805
dbSNP Clinvar 		14766093 243.77 G A PASS 1/1 11 None None None 0.91733 0.91730 None None None None None None None
View 46651510241455_annotated 21 rs56124762
dbSNP Clinvar 		45658474 245.77 A G PASS 0/1 27 None None None 0.18391 0.18390 None None None None None None ICOSLG|0.0015876|92.37%
View 46651510241455_annotated 21 rs2823502
dbSNP Clinvar 		17202780 249.77 A C PASS 0/1 33 None None None 0.29074 0.29070 None None None None None None USP25|0.331783522|25.35%
View 46651510241455_annotated 21 rs932840
dbSNP Clinvar 		11038802 250.77 G A SNP_QC 0/1 329 None None None None None None None None None None
View 46651510241455_annotated 21 rs2832145
dbSNP Clinvar 		30324644 252.77 T G PASS 0/1 16 None None None 0.19888 0.19890 None None None None None None LTN1|0.18396832|38.5%
View 46651510241455_annotated 21 rs11909507
dbSNP Clinvar 		44279888 254.77 G A PASS 0/1 39 None None None 0.14277 0.14280 0.15199 None None None None None None WDR4|0.025778216|71.43%

EVA1C
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 46651510241455_annotated 21 rs146014823
dbSNP Clinvar 		33785228 260.77 C A PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.01418 0.01418 0.00047 None None None None None None EVA1C|0.061100423|59.56%

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 46651510241455_annotated 21 rs1050351
dbSNP Clinvar 		46929467 261.77 G A PASS 0/1 16 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%

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 46651510241455_annotated 21 rs370850
dbSNP Clinvar 		28216066 264.77 C T PASS 0/1 44 None None None 0.68810 0.68810 0.20276 None None None None None None ADAMTS1|0.304173311|27.34%
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 46651510241455_annotated 21 rs9306116
dbSNP Clinvar 		46234079 268.77 T A PASS 0/1 29 None None None 0.38159 0.38160 None None None None None None SUMO3|0.107656066|49.66%
View 46651510241455_annotated 21 rs73357389
dbSNP Clinvar 		36041638 269.77 T C PASS 0/1 26 None None None 0.26997 0.27000 None None None None None None None

FTCD
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 46651510241455_annotated 21 rs12774
dbSNP Clinvar 		47556793 276.77 C T PASS 0/1 38 None None None 0.55192 0.55190 0.00 None None None None None None FTCD|0.026135815|71.26%
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 46651510241455_annotated 21 rs11424055,rs397727320
dbSNP Clinvar 		38534228 277.77 A AT PASS 1/1 7 None None None 1.00000 1.00000 None None None None None None TTC3|0.067442966|58.04%

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 46651510241455_annotated 21 rs9306108
dbSNP Clinvar 		46057391 280.77 A G PASS 0/1 30 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%
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 46651510241455_annotated 21 rs57522570
dbSNP Clinvar 		38534234 286.8 C T PASS 1/1 7 None None None 1.00000 1.00000 None None None None None None TTC3|0.067442966|58.04%
View 46651510241455_annotated 21 rs2834234
dbSNP Clinvar 		34894623 289.78 T C SNP_QC 1/1 9 None None None 0.87400 0.87400 0.19114 None None None None None None GART|0.670681358|9.36%
View 46651510241455_annotated 21 rs768547280
dbSNP Clinvar 		33312539 292.74 CT C PASS 1/1 16 None None None None None None None None None HUNK|0.065973255|58.37%

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 46651510241455_annotated 21 rs434857
dbSNP Clinvar 		28217178 300.77 T G PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.68890 0.68890 0.17773 None None None None None None ADAMTS1|0.304173311|27.34%
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 46651510241455_annotated 21 rs13048408
dbSNP Clinvar 		26966317 311.77 A G PASS 1/1 10 None None None 0.41933 0.41930 0.36655 None None None None None None MRPL39|0.166949385|40.69%
View 46651510241455_annotated 21 rs760344
dbSNP Clinvar 		15893567 314.77 A T PASS 1/1 10 None None None 0.20088 0.20090 0.18557 None None None None None None SAMSN1|0.290908658|28.32%

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 46651510241455_annotated 21 rs6517254
dbSNP Clinvar 		36080290 314.77 C T PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.37001 0.37000 0.46179 None None None None None None CLIC6|0.002510101|89.68%
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 46651510241455_annotated 21 rs1048710
dbSNP Clinvar 		45643008 325.77 A G PASS 0/1 30 None None None 0.46086 0.46090 None None None None None None ICOSLG|0.0015876|92.37%
View 46651510241455_annotated 21 rs1540000
dbSNP Clinvar 		19666901 325.77 T A PASS 0/1 41 None None None 0.28534 0.28530 0.32352 None None None None None None TMPRSS15|0.07093914|57.24%
View 46651510241455_annotated 21 rs75079963
dbSNP Clinvar 		11059854 326.77 A G PASS 0/1 22 None None None None None None None None None None
View 46651510241455_annotated 21 rs2834293
dbSNP Clinvar 		35276209 326.77 A G PASS 1/1 13 None None None 0.34046 0.34050 0.32731 None None None None None None ATP5O|0.055947808|60.93%
View 46651510241455_annotated 21 rs34294410
dbSNP Clinvar 		40555160 328.77 C G PASS 0/1 32 None None None 0.21226 0.21230 0.32638 None None None None None None PSMG1|0.212049337|35.36%

PRMT2
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 46651510241455_annotated 21 rs10854485
dbSNP Clinvar 		48063476 339.77 C G PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.86302 0.86300 0.19406 None None None None None None PRMT2|0.03525369|67.43%
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 46651510241455_annotated 21 rs7283989
dbSNP Clinvar 		47420761 344.77 G A PASS 0/1 35 None None None 0.55951 0.55950 0.49803 None None None None None None COL6A1|0.085741402|53.99%
View 46651510241455_annotated 21 rs758724938
dbSNP Clinvar 		14771323 354.73 TTC T PASS 0/1 29 None None None None None None None None None None
View 46651510241455_annotated 21 rs540664963
dbSNP Clinvar 		40177839 354.77 G T PASS 0/1 39 MOTIF[MA0147.1:Cmyc] LOW None 0.00379 0.00379 None None None None None None ETS2|0.453014646|18.03%

RIPK4
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 46651510241455_annotated 21 rs2277789
dbSNP Clinvar 		43164232 363.77 C A PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.38419 0.38420 0.36291 None None None None None None RIPK4|0.144673643|43.77%
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 46651510241455_annotated 21 rs28441174
dbSNP Clinvar 		11049621 366.77 G A SNP_QC 0/1 437 None None None 0.09385 0.09385 None None None None None None None
View 46651510241455_annotated 21 rs28537865
dbSNP Clinvar 		11049623 366.77 T C SNP_QC 0/1 428 None None None 0.09385 0.09385 None None None None None None None
View 46651510241455_annotated 21 rs2000415
dbSNP Clinvar 		38539844 367.77 G A PASS 0/1 52 None None None 0.40994 0.40990 0.33623 None None None None None None TTC3|0.067442966|58.04%

RRP1
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 46651510241455_annotated 21 rs4566449
dbSNP Clinvar 		45219524 371.77 T C PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.34884 0.34880 0.28165 None None None None None None RRP1|0.004985037|85.84%

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 46651510241455_annotated 21 rs112205018
dbSNP Clinvar 		46057422 382.77 T A PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.29014 0.29010 1.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%
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 46651510241455_annotated 21 rs1859297
dbSNP Clinvar 		42716548 383.77 G A PASS 0/1 18 None None None 0.16334 0.16330 None None None None None None FAM3B|0.008580766|82.07%

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 46651510241455_annotated 21 rs114653592
dbSNP Clinvar 		46057417 385.77 A C PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.28834 0.28830 0.07598 0.04 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%
View 46651510241455_annotated 21 rs116673061
dbSNP Clinvar 		46057418 385.77 G C PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.28830 0.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%
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 46651510241455_annotated 21 rs8134520
dbSNP Clinvar 		45724055 388.77 G A PASS 0/1 33 None None None 0.22125 0.22120 None None None None None None PFKL|0.096575796|51.8%