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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

TPTE
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 rs210498
dbSNP Clinvar 		10906989 6484.94 C T . 0/1 220 SYNONYMOUS_CODING LOW None 0.25140 0.25140 0.13617 None None None None None None None
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 rs4913632
dbSNP Clinvar 		10908767 885.9 C T . 0/1 73 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1828001
dbSNP Clinvar 		10910253 5005.94 G T . 0/1 67 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs150480
dbSNP Clinvar 		10910291 12633.9 C T . 0/1 79 None None None None None None None None None None

TPTE
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 rs9996
dbSNP Clinvar 		10910311 14628.9 T G . 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.61122 0.61120 1.00 0.00 -0.18 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs62211191
dbSNP Clinvar 		10910340 2717.94 C G . 0/1 100 SYNONYMOUS_CODING LOW None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs150482
dbSNP Clinvar 		10910347 20957.9 A G . 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.82867 0.82870 1.00 0.00 0.53 None None None None None None None
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 rs62211195
dbSNP Clinvar 		10914285 2062.94 G A . 0/1 68 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs61249862
dbSNP Clinvar 		10916290 2091.94 T C . 0/1 94 None None None 0.17452 0.17450 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs150483
dbSNP Clinvar 		10916293 13006.9 A G . 0/1 97 None None None 0.67712 0.67710 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs210506
dbSNP Clinvar 		10916322 9048.94 G A . 0/1 120 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs303304
dbSNP Clinvar 		10920018 3149.94 A G . 0/1 103 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs4913553
dbSNP Clinvar 		10920041 2440.94 C T . 0/1 120 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs4913681
dbSNP Clinvar 		10920067 3346.94 T C . 0/1 154 None None None None None None None None None None

TPTE
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 rs212146
dbSNP Clinvar 		10920098 52910.4 T C . 1/1 192 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 0.60 None None None None None None None
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 rs62211225
dbSNP Clinvar 		10920176 3023.94 G T . 0/1 187 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs377621155
dbSNP Clinvar 		10920190 939.33 A G . 0/1 178 None None None 0.00231 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs8132116
dbSNP Clinvar 		10934193 1928.9 A G . 0/1 133 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs6582917
dbSNP Clinvar 		10935004 5567.94 A T . 0/1 250 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs625381
dbSNP Clinvar 		10935044 3074.94 T C . 0/1 169 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2019999
dbSNP Clinvar 		10942036 2973.94 T A . 0/1 141 None None None None None None None None None None

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1810540
dbSNP Clinvar 		10942756 5598.94 G A . 0/1 332 STOP_GAINED HIGH None 8.92 None None None None None None None
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 rs559696843
dbSNP Clinvar 		10942851 1939.9 T C . 0/1 188 None None None 0.00020 0.00020 None None None None None None None

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs113444703,rs558478158
dbSNP Clinvar 		10942924 5453.9 CCTT C . 0/1 223 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1810856
dbSNP Clinvar 		10943003 3670.94 C T . 0/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.81 3.84 None None None None None None None
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 rs2020014
dbSNP Clinvar 		10943038 2889.94 C A . 0/1 138 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 . 10944884 2403.9 A C . 0/1 170 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs210537
dbSNP Clinvar 		10953012 3690.94 A G . 0/1 104 None None None 0.20986 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs212111
dbSNP Clinvar 		10959806 5242.94 G T . 0/1 210 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs212112
dbSNP Clinvar 		10959881 5211.94 G A . 0/1 101 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs469719
dbSNP Clinvar 		10970003 5123.94 G A . 0/1 107 None None None 0.20429 None None None None None None None

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs468525
dbSNP Clinvar 		10970017 5400.94 C T . 0/1 115 SYNONYMOUS_CODING LOW None 0.25340 0.25340 0.10687 None None None None None None None
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 rs469872
dbSNP Clinvar 		10971210 2991.94 G T . 0/1 56 None None None 0.27796 0.27800 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs469953
dbSNP Clinvar 		10973787 20232.9 T A . 0/1 208 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs469961
dbSNP Clinvar 		10973798 19932.9 T C . 0/1 176 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs469960
dbSNP Clinvar 		10973815 4978.94 C T . 0/1 135 None None None 0.27057 0.27060 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs3888470
dbSNP Clinvar 		11039298 3529.9 C T . 0/1 535 None None None None None None None None None None
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 rs3915340
dbSNP Clinvar 		11039344 33416.9 G A . 0/1 558 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2698623
dbSNP Clinvar 		11039394 11443.9 C T . 0/1 559 None None None None None None None None None None
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 rs3915344
dbSNP Clinvar 		11039450 24904.9 A G . 0/1 385 None None None None None None None None None None
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 rs3906136
dbSNP Clinvar 		11047441 16087.9 T C . 0/1 317 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs467861
dbSNP Clinvar 		11047496 76544.9 G A . 0/1 516 None None None None None None None None None None
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 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 rs4913683
dbSNP Clinvar 		11047685 1905.94 C T . 0/1 259 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs468502
dbSNP Clinvar 		11049364 6735.94 C T . 0/1 484 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs467462
dbSNP Clinvar 		11049395 89276.9 T C . 0/1 537 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2259244
dbSNP Clinvar 		11049404 61784.9 C G . 0/1 566 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs7280925
dbSNP Clinvar 		11049503 16817.9 T A . 0/1 488 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs468629
dbSNP Clinvar 		11049516 72403.9 G A . 0/1 472 None None None 0.00319 0.81150 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2261873
dbSNP Clinvar 		11058119 1434.05 C T . 0/1 69 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs4913558
dbSNP Clinvar 		11058226 9327.94 G C . 0/1 201 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2775343
dbSNP Clinvar 		11058227 1858.9 T A . 0/1 205 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs58094605,rs397702122
dbSNP Clinvar 		11058404 4627.9 A ACT . 0/1 80 None None None None None None None None None None
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 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 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
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs55673353
dbSNP Clinvar 		11097574 4637.94 T A . 0/1 247 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs536069130
dbSNP Clinvar 		11097718 1282.94 C T . 0/1 133 None None None 0.06829 0.06829 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs12482628
dbSNP Clinvar 		11097719 8180.94 A G . 0/1 129 None None None 0.45767 0.45770 None None None None None None None
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 rs113501712
dbSNP Clinvar 		11097739 1049.94 C T . 0/1 114 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs75742769
dbSNP Clinvar 		11098664 2833.94 A G . 0/1 133 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs748805014
dbSNP Clinvar 		11098673 3872.9 GT... G . 0/1 168 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1752238
dbSNP Clinvar 		11098674 23408.9 T C . 0/1 149 None None None 0.99581 0.99580 0.00497 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs772357297
dbSNP Clinvar 		11098685 4533.9 CT... C . 0/1 191 MOTIF[MA0095.1:Yy1] LOW None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs74415742
dbSNP Clinvar 		11098704 6492.94 A G . 0/1 202 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs73151874
dbSNP Clinvar 		11098723 10784.9 T C . 0/1 254 None None None 0.07109 0.07109 None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs113315187
dbSNP Clinvar 		11098728 11015.9 C T . 0/1 263 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs79274499
dbSNP Clinvar 		11098827 3320.94 C T . 0/1 123 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs75318310
dbSNP Clinvar 		11098863 1755.94 A G . 0/1 110 None None None None None None None None None None

POTED
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 rs201206142
dbSNP Clinvar 		14982716 950.86 T C . 1/1 13 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 -2.76 0.00 0.10833 T None None None None POTED|0.001112337|94.88%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs374506316
dbSNP Clinvar 		14982904 2353.36 G A . 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.00 -0.91 0.00 0.01953 T None None None None POTED|0.001112337|94.88%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs190840287
dbSNP Clinvar 		14982922 2269.36 C G . 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 -3.40 0.00 0.00162 T None None None None POTED|0.001112337|94.88%
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 rs201119249
dbSNP Clinvar 		14992448 4374.94 C T . 0/1 90 None None None None None None None None None POTED|0.001112337|94.88%
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%

POTED
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 rs79514853
dbSNP Clinvar 		15011839 941.54 T C . 1/1 4 SYNONYMOUS_CODING LOW None 0.27995 0.28000 None None None None None None POTED|0.001112337|94.88%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs200053244
dbSNP Clinvar 		15011856 1027.65 G A . 1/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.28075 0.28080 1.00 0.00 -0.56 None None None None None None POTED|0.001112337|94.88%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs200867471
dbSNP Clinvar 		15011942 857.46 C A . 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.30032 0.30030 1.00 0.00 -1.02 None None None None None None POTED|0.001112337|94.88%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs200784757
dbSNP Clinvar 		15011945 857.46 A G . 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.30032 0.30030 0.37 0.09 -1.11 None None None None None None POTED|0.001112337|94.88%
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 rs376408187
dbSNP Clinvar 		15012050 3310.35 C T . 1/1 12 None None None 0.27376 0.27380 None None None None None None POTED|0.001112337|94.88%

LIPI
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 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%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs7283442
dbSNP Clinvar 		15516976 11119.3 T A . 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.20 0.01 1.23 None None None None None None LIPI|0.027450364|70.67%
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 rs73346033
dbSNP Clinvar 		15535889 3190.88 A G . 0/1 30 None None None 0.12800 0.12800 0.08294 None None None None None None LIPI|0.027450364|70.67%

LIPI
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 rs11909217
dbSNP Clinvar 		15561623 8860.9 C T . 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.00599 0.00599 0.00969 0.00 1.00 5.85 None None None None None None LIPI|0.027450364|70.67%

RBM11
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 rs409782
dbSNP Clinvar 		15596772 6874.35 T G . 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.75579 0.75580 0.20188 0.72 0.00 0.01 None None None None None None RBM11|0.04162985|65.26%
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 rs410052
dbSNP Clinvar 		15596882 4451.35 T C . 1/1 31 None None None 0.80731 0.80730 0.14568 None None None None None None RBM11|0.04162985|65.26%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2822443
dbSNP Clinvar 		15599118 13917.3 A G . 1/1 70 None None None 0.17592 0.17590 None None None None None None RBM11|0.04162985|65.26%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2822444
dbSNP Clinvar 		15599144 18664.3 T C . 1/1 96 None None None 0.43470 0.43470 None None None None None None RBM11|0.04162985|65.26%

RBM11
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 rs7280643
dbSNP Clinvar 		15599466 17909.3 A G . 1/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.10583 0.10580 0.13163 0.02 0.06 0.30 None None None None None None RBM11|0.04162985|65.26%
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 rs17002670
dbSNP Clinvar 		15745890 5682.94 G A . 0/1 54 None None None 0.11781 0.11780 0.11087 None None None None None None HSPA13|0.247029422|31.82%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2822642
dbSNP Clinvar 		15748186 8460.33 C A . 1/1 60 None None None 0.71326 0.71330 0.22228 None None None None None None HSPA13|0.247029422|31.82%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2822645
dbSNP Clinvar 		15753484 6096.94 G A . 0/1 70 None None None 0.11861 0.11860 0.11782 None None None None None None HSPA13|0.247029422|31.82%
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%

SAMSN1
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 rs144162434
dbSNP Clinvar 		15858321 6088.94 C T . 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.00240 0.00193 1.00 0.00 1.09 0.00 0.11085 T None None None None SAMSN1|0.290908658|28.32%
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 rs3761320
dbSNP Clinvar 		15884949 8384.33 A T . 1/1 51 None None None 0.55891 0.55890 None None None None None None SAMSN1|0.290908658|28.32%