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+ Genes 136

+ Genes associated with diseases 31

Genes at Omim

AIRE, APP, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, DONSON, DYRK1A, FTCD, HLCS, 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)
APP Alzheimer disease 1, familial, 104300 (3)
Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (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)
?Myosclerosis, congenital, 255600 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
CRYAA Cataract 9, multiple types, 604219 (3)
DONSON Microcephaly, short stature, and limb abnormalities, 617604 (3)
Microcephaly-micromelia syndrome, 251230 (3)
DYRK1A Mental retardation, autosomal dominant 7, 614104 (3)
FTCD Glutamate formiminotransferase deficiency, 229100 (3)
HLCS Holocarboxylase synthetase deficiency, 253270 (3)
IFNAR2 {Hepatitis B virus, susceptibility to}, 610424 (3)
?Immunodeficiency 45, 616669 (3)
ITGB2 Leukocyte adhesion deficiency, 116920 (3)
KCNE1 Long QT syndrome 5, 613695 (3)
Jervell and Lange-Nielsen syndrome 2, 612347 (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, APP, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, DYRK1A, FTCD, HLCS, 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
APP Alzheimer disease, familial
Cerebral amyloid angiopathy
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
DYRK1A Mental retardation, autosomal dominant 7
FTCD Glutamate formiminotransferase deficiency
HLCS Holocarboxylase synthetase 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: 1459
Number of Genes: 136

Export to: CSV
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1054420
dbSNP Clinvar 		48079463 18413.3 T C . 1/1 115 None None None 0.80172 0.80170 None None None None None None PRMT2|0.03525369|67.43%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs6518306
dbSNP Clinvar 		48073310 25899.3 T C . 1/1 162 None None None 0.89936 0.89940 None None None None None None PRMT2|0.03525369|67.43%

PRMT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs10854485
dbSNP Clinvar 		48063476 11311.3 C G . 1/1 78 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs113903382,rs34541039
dbSNP Clinvar 		48063387 602.91 C CA . 0/1 21 None None None 0.43770 0.43770 None None None None None None PRMT2|0.03525369|67.43%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2186358
dbSNP Clinvar 		48022375 12797.3 C A . 1/1 67 None None None 0.78355 0.78350 0.26549 None None None None None None S100B|0.760695358|6.82%

S100B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1051169
dbSNP Clinvar 		48022230 15960.3 C G . 1/1 84 SYNONYMOUS_CODING LOW None 0.56689 0.56690 0.41788 None None None None None None S100B|0.760695358|6.82%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs8127941
dbSNP Clinvar 		47987547 10187.9 C T . 0/1 118 None None None 0.14537 0.14540 0.20440 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs3819044
dbSNP Clinvar 		47986633 14433.3 C A . 1/1 74 None None None 0.90994 0.90990 0.08520 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs762254
dbSNP Clinvar 		47983680 8254.94 G A . 0/1 107 None None None 0.11082 0.11080 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs762253
dbSNP Clinvar 		47983657 15588.3 G A . 1/1 88 None None None 0.92133 0.92130 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839326
dbSNP Clinvar 		47981878 5414.94 T C . 0/1 65 None None None 0.12580 0.12580 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs34529071
dbSNP Clinvar 		47980948 6673.9 G C . 0/1 98 None None None 0.25599 0.25600 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839325
dbSNP Clinvar 		47980913 15562.9 G T . 0/1 125 None None None 0.46106 0.46110 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs76005530
dbSNP Clinvar 		47980800 13175.9 C T . 0/1 162 None None None 0.05132 0.05132 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2070429
dbSNP Clinvar 		47980570 10431.9 A G . 0/1 87 None None None 0.72604 0.72600 0.26084 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs34920477,rs397717866
dbSNP Clinvar 		47978321 19473.3 G GC . 1/1 99 None None None 1.00000 1.00000 0.00768 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs7280382
dbSNP Clinvar 		47974388 8772.9 C G . 0/1 105 None None None 0.23962 0.23960 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2255526
dbSNP Clinvar 		47971539 10356.9 G A . 0/1 103 None None None 0.74341 0.74340 0.22770 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs79494713
dbSNP Clinvar 		47970057 4718.94 A G . 0/1 59 None None None 0.02816 0.02815 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839318
dbSNP Clinvar 		47966810 9345.94 G C . 0/1 118 None None None 0.17612 0.17610 0.21217 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs4818845
dbSNP Clinvar 		47966016 3068.33 C G . 0/1 195 None None None 0.08227 0.08227 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1029262
dbSNP Clinvar 		47931245 1013.33 A G . 0/1 73 None None None 0.31110 0.31110 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs11315869,rs397867243
dbSNP Clinvar 		47917047 10961.9 CT C . 1/1 100 None None None 0.81570 0.81570 0.14995 None None None None None None DIP2A|0.064095824|58.86%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs143709505,rs757334979,rs3058084
dbSNP Clinvar 		47864560 2587.9 CTTT C,... . 1/3 50 None None None 0.76138 0.76140 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs7283044
dbSNP Clinvar 		47852226 6147.94 C T . 0/1 63 None None None 0.17851 0.17850 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs5844270
dbSNP Clinvar 		47852151 29037.3 A AG . 1/1 126 None None None 1.00000 1.00000 0.01229 None None None None None None PCNT|0.010255201|80.67%

PCNT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2073376
dbSNP Clinvar 		47851753 42085.4 A G . 1/1 229 NON_SYNONYMOUS_CODING MODERATE None 0.66993 0.66990 0.30817 1.00 0.00 -1.28 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs743346
dbSNP Clinvar 		47851636 18116.9 G A . 0/1 214 NON_SYNONYMOUS_CODING MODERATE None 0.02356 0.02356 0.05244 0.20 0.30 3.30 None None None None None None PCNT|0.010255201|80.67%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs79203677
dbSNP Clinvar 		47851175 22464.9 A G . 0/1 260 None None None 0.02296 0.02296 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs560879641
dbSNP Clinvar 		47850807 7857.9 G GC . 0/1 192 None None None 0.03395 0.03395 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs116217795
dbSNP Clinvar 		47850631 3183.33 C T . 0/1 209 None None None 0.02396 0.02396 None None None None None None PCNT|0.010255201|80.67%

PCNT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2070426
dbSNP Clinvar 		47850484 17753.9 G C . 0/1 212 NON_SYNONYMOUS_CODING MODERATE None 0.48822 0.48820 0.48408 0.06 0.00 2.28 None None None None None None PCNT|0.010255201|80.67%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839257
dbSNP Clinvar 		47850405 34258.4 C T . 1/1 181 None None None 0.66913 0.66910 0.29443 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1023161
dbSNP Clinvar 		47850186 8810.94 C T . 0/1 109 None None None 0.17792 0.17790 0.19217 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1023160
dbSNP Clinvar 		47850155 10822.9 G C . 0/1 126 None None None 0.18011 0.18010 0.19906 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs60356719
dbSNP Clinvar 		47848554 5220.94 G A . 0/1 67 None None None 0.17772 0.17770 0.16907 None None None None None None PCNT|0.010255201|80.67%

PCNT
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839256
dbSNP Clinvar 		47848459 9104.94 G A . 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.17772 0.17770 0.19518 0.27 0.03 2.43 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs61735818
dbSNP Clinvar 		47848350 8972.94 G A . 0/1 107 SYNONYMOUS_CODING LOW None 0.02296 0.02296 0.05145 None None None None None None PCNT|0.010255201|80.67%
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs55937012
dbSNP Clinvar 		47847757 6134.94 G A . 0/1 91 None None None 0.17812 0.17810 0.19614 None None None None None None PCNT|0.010255201|80.67%

PCNT
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs61735817
dbSNP Clinvar 		47847700 8305.94 C T . 0/1 112 SYNONYMOUS_CODING LOW None 0.01837 0.01837 0.04483 None None None None None None PCNT|0.010255201|80.67%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2330436
dbSNP Clinvar 		47845942 7003.94 T C . 0/1 59 None None None 0.17851 0.17850 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2330435
dbSNP Clinvar 		47845936 7261.94 T C . 0/1 61 None None None 0.17871 0.17870 0.19676 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs78995522
dbSNP Clinvar 		47845662 6089.94 G A . 0/1 81 None None None 0.01697 0.01697 None None None None None None PCNT|0.010255201|80.67%

PCNT
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs61735814
dbSNP Clinvar 		47841989 10456.9 C T . 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.01877 0.01877 0.04498 0.22 0.05 2.27 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs7277175
dbSNP Clinvar 		47841941 11788.9 A G . 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.17851 0.17850 0.19729 0.17 0.00 -2.45 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs61735815
dbSNP Clinvar 		47841933 12091.9 T C . 0/1 136 SYNONYMOUS_CODING LOW None 0.02296 0.02296 0.05144 None None None None None None PCNT|0.010255201|80.67%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs111962882
dbSNP Clinvar 		47841791 7010.94 G A . 0/1 91 None None None 0.02316 0.02316 None None None None None None PCNT|0.010255201|80.67%

PCNT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839246
dbSNP Clinvar 		47838123 2801.94 A G . 0/1 35 SYNONYMOUS_CODING LOW None 0.17832 0.17830 0.17846 None None None None None None PCNT|0.010255201|80.67%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs59957960
dbSNP Clinvar 		47838112 3213.92 T TA... . 0/1 32 None None None 0.17812 0.17810 0.19049 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs13340001
dbSNP Clinvar 		47836851 6848.94 A G . 0/1 88 None None None 0.17911 0.17910 None None None None None None PCNT|0.010255201|80.67%

PCNT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs61738290
dbSNP Clinvar 		47836750 1664.33 T C . 0/1 122 SYNONYMOUS_CODING LOW None 0.02276 0.02276 0.03665 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs35346764
dbSNP Clinvar 		47836547 11276.9 T C . 0/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.18131 0.18130 0.18812 0.36 0.00 -0.35 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs34151633
dbSNP Clinvar 		47836403 2150.33 T C . 0/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.02117 0.02117 0.04306 0.26 0.60 1.61 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1044998
dbSNP Clinvar 		47836395 12953.9 T G . 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.17832 0.17830 0.19706 0.78 0.00 -1.61 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs60444527
dbSNP Clinvar 		47836216 12936.9 A G . 0/1 171 SYNONYMOUS_CODING LOW None 0.17792 0.17790 0.19714 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs35978208
dbSNP Clinvar 		47836206 12942.9 A C . 0/1 161 NON_SYNONYMOUS_CODING MODERATE None 0.17832 0.17830 0.19676 1.00 0.00 -1.68 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839245
dbSNP Clinvar 		47836122 12295.9 T C . 0/1 162 NON_SYNONYMOUS_CODING MODERATE None 0.17812 0.17810 0.19722 0.28 0.00 -0.77 None None None None None None PCNT|0.010255201|80.67%
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs112334245
dbSNP Clinvar 		47832955 5955.94 C T . 0/1 90 None None None 0.08211 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs73909504
dbSNP Clinvar 		47832040 9390.94 G A . 0/1 100 None None None 0.17891 0.17890 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs73379348
dbSNP Clinvar 		47832029 12925.9 T G . 0/1 113 None None None 0.17891 0.17890 0.18506 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs73907502
dbSNP Clinvar 		47832019 13679.9 T C . 0/1 125 None None None 0.17891 0.17890 0.18669 None None None None None None PCNT|0.010255201|80.67%

PCNT
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs34268261
dbSNP Clinvar 		47831845 15647.9 G A . 0/1 202 NON_SYNONYMOUS_CODING MODERATE None 0.02336 0.02336 0.04936 0.58 0.00 -0.58 None None rs34268261 2_2 not_specified_not_provided None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs61735811
dbSNP Clinvar 		47831621 23473.9 C T . 0/1 206 SYNONYMOUS_CODING LOW None 0.02376 0.02376 0.05116 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs16979162
dbSNP Clinvar 		47831618 23262.9 C T . 0/1 206 SYNONYMOUS_CODING LOW None 0.17812 0.17810 0.19022 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs35940413
dbSNP Clinvar 		47831509 21953.9 A G . 1/1 199 NON_SYNONYMOUS_CODING MODERATE None 0.20288 0.20290 0.24089 1.00 0.00 -1.80 None None rs35940413 2_2 not_specified_not_provided None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs58559714
dbSNP Clinvar 		47831309 14132.9 G A . 0/1 192 SYNONYMOUS_CODING LOW None 0.17871 0.17870 0.19776 None None None None None None PCNT|0.010255201|80.67%
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839241
dbSNP Clinvar 		47821726 2799.9 G A . 0/1 68 None None None 0.33107 0.33110 None None None None None None PCNT|0.010255201|80.67%

PCNT
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs6518291
dbSNP Clinvar 		47821588 15572.9 A G . 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.33467 0.33470 0.31362 1.00 0.00 -2.12 None None None None None None PCNT|0.010255201|80.67%
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2268522
dbSNP Clinvar 		47814319 3653.35 A G . 1/1 17 None None None 0.66713 0.66710 None None None None None None PCNT|0.010255201|80.67%

PCNT
Omim - GeneCards - NCBI
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 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs35044802
dbSNP Clinvar 		47808772 2576.33 G A . 0/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.02296 0.02296 0.04422 0.53 0.02 0.74 None None None None None None PCNT|0.010255201|80.67%
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2073378
dbSNP Clinvar 		47805663 9486.9 C G . 0/1 64 None None None 0.33886 0.33890 None None None None None None PCNT|0.010255201|80.67%

PCNT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs6518289
dbSNP Clinvar 		47787002 17879.9 T C . 1/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.83766 0.83770 0.11695 0.51 0.00 -1.78 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839228
dbSNP Clinvar 		47786817 25145.9 C G . 1/1 158 SYNONYMOUS_CODING LOW None 0.83886 0.83890 0.11825 None None None None None None PCNT|0.010255201|80.67%
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839226
dbSNP Clinvar 		47786494 3543.9 C T . 0/1 122 None None None 0.65775 0.65770 0.31144 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs9637173
dbSNP Clinvar 		47786449 13221.9 T A,G . 1/2 95 None None None 0.04054 0.80650 0.10881 None None None None None None PCNT|0.010255201|80.67%

PCNT
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs8131546
dbSNP Clinvar 		47783796 18692.9 T C . 1/1 131 SYNONYMOUS_CODING LOW None 0.84705 0.84700 0.10513 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839223
dbSNP Clinvar 		47777063 12084.9 G A . 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.84864 0.84860 0.10618 1.00 0.00 0.08 None None None None None None PCNT|0.010255201|80.67%
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs17297961
dbSNP Clinvar 		47776845 5563.94 G A . 0/1 63 None None None 0.02216 0.02216 0.05025 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs117007201
dbSNP Clinvar 		47774039 2859.94 T C . 0/1 32 None None None 0.02216 0.02216 0.05453 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs79850630
dbSNP Clinvar 		47767482 5587.94 C T . 0/1 59 None None None 0.02196 0.02196 0.05431 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs114224027
dbSNP Clinvar 		47766154 398.33 C T . 0/1 32 None None None 0.02316 0.02316 0.04452 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs9982233
dbSNP Clinvar 		47766139 8525.35 T C . 1/1 36 None None None 0.67512 0.67510 0.31093 None None None None None None PCNT|0.010255201|80.67%

PCNT
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs34500739
dbSNP Clinvar 		47766113 5218.94 T G . 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.02556 0.02556 0.05536 1.00 0.00 -0.19 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs61735822
dbSNP Clinvar 		47754563 6756.33 A G . 0/1 424 NON_SYNONYMOUS_CODING MODERATE None 0.02516 0.02516 0.04521 1.00 0.00 -3.00 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs61735824
dbSNP Clinvar 		47754541 4928.33 A G . 0/1 420 SYNONYMOUS_CODING LOW None 0.02536 0.02536 0.04844 None None None None None None PCNT|0.010255201|80.67%
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs61230637
dbSNP Clinvar 		47745160 9046.9 G T . 1/1 83 None None None 0.19090 0.19090 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2276258
dbSNP Clinvar 		47745133 13431.9 C G . 1/1 96 None None None 0.76058 0.76060 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs5844266
dbSNP Clinvar 		47744903 31702.3 A AG . 1/1 143 None None None 1.00000 1.00000 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs117743316
dbSNP Clinvar 		47744812 10158.9 C T . 0/1 122 None None None 0.01957 0.01957 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs80017051
dbSNP Clinvar 		47744202 2952.94 C T . 0/1 51 None None None 0.01837 0.01837 0.04634 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs138595914
dbSNP Clinvar 		47744127 4282.94 G T . 0/1 69 None None None 0.01837 0.01837 0.04642 None None None None None None PCNT|0.010255201|80.67%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1974171
dbSNP Clinvar 		47722578 3941.9 G C . 0/1 34 None None None 0.53155 0.53150 None None None None None None C21orf58|0.001829013|91.47%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1556337
dbSNP Clinvar 		47722391 7491.9 A G . 0/1 69 None None None 0.53155 0.53150 0.39502 None None None None None None C21orf58|0.001829013|91.47%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs3747007
dbSNP Clinvar 		47721739 20369.9 A G . 0/1 172 None None None 0.53115 0.53120 None None None None None None C21orf58|0.001829013|91.47%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs3747006
dbSNP Clinvar 		47721661 22009.9 T C . 1/1 137 None None None 0.75799 0.75800 None None None None None None C21orf58|0.001829013|91.47%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs11399715
dbSNP Clinvar 		47721391 18052.3 G GC . 1/1 75 None None None 1.00000 1.00000 None None None None None None C21orf58|0.001829013|91.47%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs11443408,rs869180095,rs397801377
dbSNP Clinvar 		47721068 7996.35 A AT . 1/1 58 None None None 0.99980 0.99980 None None None None None None C21orf58|0.001829013|91.47%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839207
dbSNP Clinvar 		47717686 11719.9 G A . 0/1 103 None None None 0.53035 0.53040 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs8651
dbSNP Clinvar 		47717616 23852.9 G A . 1/1 166 None None None 0.74940 0.74940 None None None None None None YBEY|0.008142838|82.51%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1888539
dbSNP Clinvar 		47716230 6940.9 T C . 0/1 52 None None None 0.53774 0.53770 None None None None None None YBEY|0.008142838|82.51%