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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
 Alt
 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 rs969104269
dbSNP Clinvar 		35258536 46.31 T G . 0/1 32 None None None None None None None None None ITSN1|0.349350199|24.18%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 . 11047556 50.33 C A . 0/1 683 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs368911560
dbSNP Clinvar 		11097489 72.33 A C . 0/1 78 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs10439831
dbSNP Clinvar 		11097497 74.33 A C . 0/1 84 None None None None None None None None None None

LTN1
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 rs560176639
dbSNP Clinvar 		30339205 76.2 AT A . 0/1 199 FRAME_SHIFT HIGH None 0.09085 0.09085 None None None None None None LTN1|0.18396832|38.5%
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 rs374230761
dbSNP Clinvar 		11097488 78.33 C G . 0/1 81 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs759672068
dbSNP Clinvar 		30356973 81.09 TA T . 0/1 65 None None None None None None None None None LTN1|0.18396832|38.5%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 . 43897333 83.31 GTCCC G . 0/1 23 None None None None None None None None None RSPH1|0.007033291|83.46%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs66662664
dbSNP Clinvar 		45564931 84.88 CT C . 0/1 152 None None None None None None None None None C21orf33|0.016835395|76%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs56245536
dbSNP Clinvar 		11097464 88.8 A G . 0/1 87 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs11286508
dbSNP Clinvar 		41551111 104.8 CA C . 0/1 4 None None None None None None None None None DSCAM|0.620706258|11.07%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs756238499
dbSNP Clinvar 		35827935 124.91 A AT . 0/1 113 None None None None None None None None None KCNE1|0.029341968|69.68%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs147076784
dbSNP Clinvar 		17238521 151.06 AAT A . 0/1 43 None None None None None None None None None USP25|0.331783522|25.35%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs202143959
dbSNP Clinvar 		38564530 162.32 CT C . 0/1 41 None None None 0.32966 None None None None None None TTC3|0.067442966|58.04%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs143622574
dbSNP Clinvar 		37734540 162.91 CT C . 0/1 35 None None None None None None None None None MORC3|0.224798851|33.9%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs201689768
dbSNP Clinvar 		46911307 166.29 C CA . 0/1 18 None None None None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs373564278
dbSNP Clinvar 		27327076 174.6 C CT . 0/1 30 None None None None None None None None None APP|0.993008957|0.94%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs56991008
dbSNP Clinvar 		11047573 182.33 T G . 0/1 657 None None None 0.00160 0.00160 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 . 39774634 197.46 C CA . 1/1 4 None None None None None None None None None ERG|0.750269513|7.08%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs567630536
dbSNP Clinvar 		33982072 202.07 CA C . 0/1 53 None None None None None None None None None C21orf59|0.034467568|67.63%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs796492369
dbSNP Clinvar 		40871690 211.96 G GT . 0/1 41 None None None None None None None None None SH3BGR|0.025744385|71.44%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs12626216
dbSNP Clinvar 		44339296 226.34 C T . 0/1 20 None None None 0.08007 0.08007 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 . 37760118 229.73 C CT . 0/1 49 None None None None None None None None None CHAF1B|0.088807597|53.49%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs373179300
dbSNP Clinvar 		46602483 235.54 CT C . 0/1 78 None None None None None None None None None ADARB1|0.037848146|66.51%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs113213749
dbSNP Clinvar 		37518893 242.31 C CT . 0/1 37 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs869278015
dbSNP Clinvar 		44438157 250.9 C CA... . 1/1 2 None None None None None None None None None PKNOX1|0.097034249|51.72%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs200762308
dbSNP Clinvar 		19628809 253.93 CT C . 0/1 118 None None None None None None None None None CHODL|0.266921821|30.1%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs539650966
dbSNP Clinvar 		45154041 278.29 CT... C . 0/1 18 None None None 0.01977 0.01977 None None None None None None PDXK|0.079279748|55.34%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 . 11039502 278.33 T G . 0/1 239 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs878958888
dbSNP Clinvar 		38334256 278.9 GA G . 0/1 33 None None None None None None None None None HLCS|0.002146669|90.61%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 . 19651242 306.13 T TT... . 0/2 10 None None None None None None None None None TMPRSS15|0.07093914|57.24%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs3915343
dbSNP Clinvar 		11039441 306.33 G C . 0/1 442 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 . 38128751 308.08 CAAA C . 0/1 8 None None None None None None None None None HLCS|0.002146669|90.61%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs199628970
dbSNP Clinvar 		40636350 309.9 AC A . 0/1 28 None None None 0.05116 None None None None None None BRWD1|0.163713366|41.06%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs113427700
dbSNP Clinvar 		40636355 311.94 A T . 0/1 29 None None None None None None None None None BRWD1|0.163713366|41.06%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs189162062
dbSNP Clinvar 		45758909 325.61 T G . 0/1 25 None None None 0.31849 0.31850 None None None None None None C21orf2|0.021974871|73.18%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs780882356
dbSNP Clinvar 		34903895 357.33 T TTA . 0/1 47 None None None None None None None None None GART|0.670681358|9.36%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs755686718,rs568374439
dbSNP Clinvar 		34907636 364.94 G GA . 0/1 30 None None None 0.00140 None None None None None None GART|0.670681358|9.36%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs62216329
dbSNP Clinvar 		46911276 370.33 G T . 0/1 28 None None None 0.49621 0.49620 0.43892 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1045958632,rs56684550
dbSNP Clinvar 		41031661 371.86 CT C . 0/1 88 None None None None None None None None None B3GALT5|0.004441095|86.45%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs995887644
dbSNP Clinvar 		40684894 376.05 C G . 0/1 7 None None None None None None None None None BRWD1|0.163713366|41.06%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 . 40684900 377.92 C CCGG . 0/1 5 None None None None None None None None None BRWD1|0.163713366|41.06%

C2CD2
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs61735800
dbSNP Clinvar 		43329572 389.33 T C . 0/1 32 SYNONYMOUS_CODING LOW None 0.03914 0.03914 0.03337 None None None None None None C2CD2|0.005649792|85.05%
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 rs16979006
dbSNP Clinvar 		47656664 389.33 C T . 0/1 39 None None None 0.06110 0.06110 None None None None None None MCM3AP|0.023766899|72.31%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs28591178
dbSNP Clinvar 		45820313 393.33 C G . 0/1 32 None None None 0.05192 0.05192 None None None None None None TRPM2|0.026957334|70.92%
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 rs76287751
dbSNP Clinvar 		22696657 402.33 G C . 0/1 30 None None None 0.07668 0.07668 0.02996 None None None None None None NCAM2|0.320343852|26.12%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs147838477
dbSNP Clinvar 		43897349 404.33 G A . 0/1 44 None None None None None None None None None RSPH1|0.007033291|83.46%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs373989547
dbSNP Clinvar 		37443162 408.86 T TG . 0/1 22 None None None None None None None None None SETD4|0.031167746|68.91%,CBR1|0.018056419|75.24%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs8130395
dbSNP Clinvar 		11039302 421.9 A G . 0/1 540 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs138757481
dbSNP Clinvar 		38462767 421.9 CT C . 0/1 51 None None None 0.39058 0.39060 None None None None None None TTC3|0.067442966|58.04%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs60322177
dbSNP Clinvar 		47635545 430.33 G A . 0/1 33 None None None 0.11202 0.11200 None None None None None None LSS|0.346361251|24.39%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs544720115,rs57178645
dbSNP Clinvar 		34901062 485.96 TA T . 0/1 22 None None None 0.42332 0.42330 None None None None None None GART|0.670681358|9.36%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2156412
dbSNP Clinvar 		37580927 495.33 T A . 0/1 41 None None None 0.16274 0.16270 None None None None None None DOPEY2|0.051933664|62.08%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs750047301
dbSNP Clinvar 		34878454 497.94 CT C . 0/1 69 None None None None None None None None None GART|0.670681358|9.36%

PDE9A
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 rs13047953
dbSNP Clinvar 		44180443 505.33 C T . 0/1 31 SYNONYMOUS_CODING LOW None 0.22883 0.22880 0.31593 None None None None None None PDE9A|0.049410429|62.84%
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 rs199680948
dbSNP Clinvar 		34907672 506.33 C A . 0/1 32 None None None None None None None None None GART|0.670681358|9.36%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs559819556
dbSNP Clinvar 		35258514 516.96 TA T . 0/1 18 None None None 0.30232 0.30230 None None None None None None ITSN1|0.349350199|24.18%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs73361521
dbSNP Clinvar 		43267109 528.33 T C . 0/1 21 None None None 0.08387 0.08387 None None None None None None PRDM15|0.047902386|63.35%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs78487064
dbSNP Clinvar 		46929553 544.33 C G . 0/1 34 None None None 0.16154 0.16150 0.10372 None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs200424905,rs377494474
dbSNP Clinvar 		34878442 546.29 ATAC A . 0/1 78 None None None None None None None None None GART|0.670681358|9.36%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs140740671,rs112072261
dbSNP Clinvar 		43766572 552.29 T TAAG . 0/1 42 None None None 0.11362 0.11360 0.13732 None None None None None None TFF2|0.004074062|86.89%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs60992072
dbSNP Clinvar 		37763779 553.14 T A . 0/1 19 None None None 0.19189 0.19190 None None None None None None CHAF1B|0.088807597|53.49%

LIPI
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 rs2822432
dbSNP Clinvar 		15516948 567.33 C T . 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.31729 0.31730 0.40396 0.05 0.23 7.21 None None None None None None LIPI|0.027450364|70.67%
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 rs2836526
dbSNP Clinvar 		39947711 577.33 C T . 0/1 40 None None None 0.09784 0.09784 None None None None None None ERG|0.750269513|7.08%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs56256482
dbSNP Clinvar 		27081725 577.33 T G . 0/1 39 None None None 0.02296 0.02296 0.02374 None None None None None None JAM2|0.08293119|54.6%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs114584495
dbSNP Clinvar 		32127417 589.33 G A . 0/1 63 None None None 0.01058 0.01058 0.00816 None None None None None None None
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 rs766779611
dbSNP Clinvar 		46930929 621.33 AC... A . 0/1 7 None None None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs182931291
dbSNP Clinvar 		35127721 633.33 T G . 0/1 34 None None None 0.00140 0.00140 0.00192 None None None None None None ITSN1|0.349350199|24.18%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 . 37633662 633.94 CA C,CAA . 0/1 57 None None None None None None None None None DOPEY2|0.051933664|62.08%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs79379629
dbSNP Clinvar 		43267379 635.33 G C . 0/1 32 None None None 0.02196 0.02196 None None None None None None PRDM15|0.047902386|63.35%

TTC3
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 rs751267458
dbSNP Clinvar 		38522386 653.33 A G . 0/1 60 SYNONYMOUS_CODING LOW None -0.26 None None None None None None TTC3|0.067442966|58.04%
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 rs77010332
dbSNP Clinvar 		46913514 655.33 G A . 0/1 41 None None None 0.06490 0.06490 0.02658 None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs878872890
dbSNP Clinvar 		32597972 664.9 CA C,... . 0/1 44 None None None None None None None None None TIAM1|0.527869798|14.65%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs116125347
dbSNP Clinvar 		41427554 667.33 C T . 0/1 41 None None None 0.03275 0.03275 None None None None None None DSCAM|0.620706258|11.07%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs540602789
dbSNP Clinvar 		39774601 677.33 A G . 0/1 39 None None None 0.00080 0.00080 None None None None None None ERG|0.750269513|7.08%

APP
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 rs45537238
dbSNP Clinvar 		27326977 691.33 A G . 0/1 65 SYNONYMOUS_CODING LOW None 0.02476 0.02476 0.02591 1.27 None None None None None None APP|0.993008957|0.94%
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 rs73364638
dbSNP Clinvar 		43711858 692.33 C A . 0/1 49 None None None 0.07668 0.07668 None None None None None None ABCG1|0.367260015|22.94%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs71316130
dbSNP Clinvar 		40684901 704.93 G C . 0/1 6 None None None None None None None None None BRWD1|0.163713366|41.06%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs75354819
dbSNP Clinvar 		46910167 708.33 G A . 0/1 49 None None None 0.07708 0.07708 0.04692 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs71334070,rs34145804
dbSNP Clinvar 		46910654 721.29 TAAAG T . 0/1 40 None None None 0.13718 0.13720 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2835770
dbSNP Clinvar 		38860521 721.33 A C . 0/1 43 None None None 0.32907 0.32910 None None None None None None DYRK1A|0.889451325|3.69%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs181879927
dbSNP Clinvar 		34953893 722.33 C T . 0/1 46 None None None 0.00120 0.00120 None None None None None None DONSON|0.208826742|35.71%

COL18A1
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 rs2230693
dbSNP Clinvar 		46913477 724.33 G C . 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.06310 0.06310 0.02801 0.16 0.01 0.51 None None None None None None COL18A1|0.045578537|64.02%
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 rs80229002
dbSNP Clinvar 		34892936 729.33 T C . 0/1 53 None None None 0.01617 0.01617 None None None None None None GART|0.670681358|9.36%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs145636658
dbSNP Clinvar 		40646226 752.9 A AGC . 0/1 26 None None None 0.09844 0.09844 None None None None None None BRWD1|0.163713366|41.06%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs763407160
dbSNP Clinvar 		34900924 762.97 GA G,GAA . 0/2 47 None None None None None None None None None GART|0.670681358|9.36%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs200228618
dbSNP Clinvar 		43714808 765.33 G T . 0/1 37 None None None 0.00220 0.00220 0.00069 None None None None None None ABCG1|0.367260015|22.94%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs4819380
dbSNP Clinvar 		45560755 771.33 G A . 0/1 55 None None None 0.17612 0.17610 None None None None None None C21orf33|0.016835395|76%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2297290
dbSNP Clinvar 		46913186 772.33 G C . 0/1 44 None None None 0.06410 0.06410 0.02606 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs79187053
dbSNP Clinvar 		43327925 783.33 G A . 0/1 49 None None None 0.06669 0.06669 0.05944 None None None None None None C2CD2|0.005649792|85.05%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs866600823
dbSNP Clinvar 		11097730 790.93 A C . 0/1 122 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs186535555
dbSNP Clinvar 		15753501 804.33 T C . 0/1 75 None None None 0.01058 0.01058 0.01032 None None None None None None HSPA13|0.247029422|31.82%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2334580
dbSNP Clinvar 		15011825 816.63 T A . 1/1 3 None None None None None None None None None POTED|0.001112337|94.88%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs878868588
dbSNP Clinvar 		34897391 819.94 CT C . 0/1 70 None None None None None None None None None GART|0.670681358|9.36%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs201755063,rs369489251
dbSNP Clinvar 		45820281 825.29 A AC... . 0/1 43 None None None 0.05551 0.05551 0.04294 None None None None None None TRPM2|0.026957334|70.92%

PWP2
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 rs745468236
dbSNP Clinvar 		45527308 826.33 C T . 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.14 1.99 0.89 0.9918 D None None None None PWP2|0.105595546|50.12%
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 rs73375539
dbSNP Clinvar 		43240446 831.33 C T . 0/1 54 None None None 0.12340 0.12340 0.12925 None None None None None None PRDM15|0.047902386|63.35%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs56345212
dbSNP Clinvar 		38997427 833.33 G C . 0/1 55 None None None 0.03355 0.03355 0.01683 None None None None None None KCNJ6|0.413743485|19.94%