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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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Genes at Omim

CASP12, DNAH11, FCGR2A, FUT2, HLA-A, HLA-DPB1, HLA-DQB1, HLA-DRB1, IDUA, LMNA, LPL, NDUFB9, PFKL, PRSS1,
CASP12 {Sepsis, susceptibility to} (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
FCGR2A {Lupus nephritis, susceptibility to}, 152700 (3)
{Malaria, severe, susceptibility to}, 611162 (3)
{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-DPB1 {Beryllium disease, chronic, susceptibility to} (3)
HLA-DQB1 {Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
IDUA Mucopolysaccharidosis Ih, 607014 (3)
Mucopolysaccharidosis Ih/s, 607015 (3)
Mucopolysaccharidosis Is, 607016 (3)
LMNA Cardiomyopathy, dilated, 1A, 115200 (3)
Charcot-Marie-Tooth disease, type 2B1, 605588 (3)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3)
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3)
Heart-hand syndrome, Slovenian type, 610140 (3)
Hutchinson-Gilford progeria, 176670 (3)
Lipodystrophy, familial partial, type 2, 151660 (3)
Malouf syndrome, 212112 (3)
Mandibuloacral dysplasia, 248370 (3)
Muscular dystrophy, congenital, 613205 (3)
Restrictive dermopathy, lethal, 275210 (3)
LPL Combined hyperlipidemia, familial, 144250 (3)
Lipoprotein lipase deficiency, 238600 (3)
[High density lipoprotein cholesterol level QTL 11] (3)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
PFKL Hemolytic anemia due to phosphofructokinase deficiency (1)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)

Genes at Clinical Genomics Database

DNAH11, HLA-A, IDUA, LMNA, LPL, PRSS1,
DNAH11 Ciliary dyskinesia, primary, 7
HLA-A Drug-induced toxicity, susceptibility to
IDUA Mucopolysaccharidosis type I
LMNA Cardiomyopathy, dilated, 1A
Heart-hand syndrome, Slovenian type
Emery-Dreiffus muscular dystrophy, autosomal dominant
Emery-Dreiffus muscular dystrophy 3, autosomal recessive
Muscular dystrophy, congenital, LMNA-related
Limb-girdle muscular dystrophy type 1B
Malouf syndrome
Lipodystrophy, familial partial, 2 (Dunnigan type)
LPL Lipoprotein lipase deficiency
Combined hyperlipidemia, familial
Hyperlipoproteinemia, type I
PRSS1 Pancreatitis, hereditary

Genes at HGMD

Summary

Number of Variants: 139
Number of Genes: 114

Export to: CSV

AC007956.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_93.variant38 14 rs2270424
dbSNP Clinvar
75159007 821.8 G A PASS 0/1 48 STOP_GAINED HIGH None 0.24461 0.24460 None None None None None None AREL1|0.445762843|18.38%

ANKDD1B

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 combined sample_93.variant38 5 rs34358
dbSNP Clinvar
74965122 1272.26 G A PASS 1/1 87 STOP_GAINED HIGH None 0.50699 0.50700 None None None None None None ANKDD1B|0.036539802|66.95%

ANKRD36

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 combined sample_93.variant38 2 . 97851077 111.59 C G PASS 0/1 80 STOP_GAINED HIGH None None None None None None None ANKRD36|0.001192347|94.46%

ANKRD36C

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 combined sample_93.variant38 2 rs62154617
dbSNP Clinvar
96619713 76.61 C A PASS 0/1 115 STOP_GAINED HIGH None 3.13 0.02 0.45885 T None None None None ANKRD36C|0.001406745|93.3%
View combined sample_93.variant38 2 rs56121945
dbSNP Clinvar
96519588 759.93 G A PASS 0/1 55 STOP_GAINED HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_93.variant38 2 rs76474100
dbSNP Clinvar
96617111 2445.24 G A PASS 0/1 132 STOP_GAINED HIGH None 0.00040 0.00040 None None None None None None ANKRD36C|0.001406745|93.3%

ARMS2

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 combined sample_93.variant38 10 rs2736911
dbSNP Clinvar
124214355 1355.37 C T PASS 0/1 93 STOP_GAINED HIGH None 0.11442 0.11440 0.12546 None None None None None None ARMS2|0.000659964|97.48%

C17orf107

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 combined sample_93.variant38 17 rs35400274
dbSNP Clinvar
4803711 3354.48 G A PASS 0/1 230 STOP_GAINED HIGH None 0.22165 0.22160 0.20543 None None None None None None CHRNE|0.06756335|57.98%,C17orf107|0.01484237|77.26%

C19orf10

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 combined sample_93.variant38 19 rs72620522
dbSNP Clinvar
4659924 1052.31 C T PASS 0/1 120 STOP_GAINED HIGH None 0.08127 0.08127 0.08704 None None None None None None MYDGF|0.015950442|76.5%

C2orf83

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 combined sample_93.variant38 2 rs2176186
dbSNP Clinvar
228476140 2604.17 C T PASS 1/1 147 STOP_GAINED HIGH None 0.31390 0.31390 0.28079 None None None None None None C2orf83|0.001157033|94.67%

C5orf20

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 combined sample_93.variant38 5 rs12520799
dbSNP Clinvar
134782450 1415.94 T A PASS 0/1 110 STOP_GAINED HIGH None 0.64517 0.64520 0.40151 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%

C5orf38

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 combined sample_93.variant38 5 rs62333235
dbSNP Clinvar
2755485 2921.62 C T PASS 0/1 214 STOP_GAINED HIGH None 0.29673 0.29670 None None None None None None C5orf38|0.009040618|81.62%

C8orf49

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 combined sample_93.variant38 8 rs809203
dbSNP Clinvar
11619504 6038.64 T A PASS 0/1 180 STOP_GAINED HIGH None 0.25140 0.25140 None None None None None None C8orf49|0.001687308|91.93%

CAPN8

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 combined sample_93.variant38 1 rs34606532
dbSNP Clinvar
223722780 554.78 G A PASS 0/1 55 STOP_GAINED HIGH None 0.44349 0.44350 0.45642 None None None None None None CAPN8|0.042652474|64.89%

CASP12

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 combined sample_93.variant38 11 rs497116
dbSNP Clinvar
104763117 4243.63 G A PASS 1/1 91 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CCHCR1

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 combined sample_93.variant38 6 rs3130453
dbSNP Clinvar
31124849 3685.03 C T PASS 0/1 103 STOP_GAINED HIGH None 0.46925 0.46920 0.48507 None None None None None None CCHCR1|0.032661886|68.3%

CDC27

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 combined sample_93.variant38 17 rs62077264
dbSNP Clinvar
45234360 2123.26 A C PASS 0/1 93 STOP_GAINED HIGH None None None None None None None CDC27|0.658499283|9.78%
View combined sample_93.variant38 17 rs199899451
dbSNP Clinvar
45234721 636.5 T A PASS 0/1 62 STOP_GAINED HIGH None None None None None None None CDC27|0.658499283|9.78%
View combined sample_93.variant38 17 rs796572277
dbSNP Clinvar
45232102 37.38 A C PASS 0/1 43 STOP_GAINED HIGH None None None None None None None CDC27|0.658499283|9.78%

CEP170

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 combined sample_93.variant38 1 rs2728433
dbSNP Clinvar
243328887 178.96 G T DRAGENHardSNP 0/1 122 STOP_GAINED HIGH None None None None None None None CEP170|0.244807399|32.03%

CLDN5

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 combined sample_93.variant38 22 rs885985
dbSNP Clinvar
19511925 1230.22 G A PASS 1/1 137 STOP_GAINED HIGH None 0.49681 0.49680 None None None None None None CLDN5|0.101200006|50.93%

CNTN5

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 combined sample_93.variant38 11 rs12292659
dbSNP Clinvar
99690376 2218.65 C T PASS 0/1 215 STOP_GAINED HIGH None 0.23515 None None None None None None CNTN5|0.790800052|6.1%

CSAG1

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 combined sample_93.variant38 X rs1894360,rs796367357
dbSNP Clinvar
151908845 3730.25 C G PASS 0/1 157 STOP_GAINED HIGH None 0.09987 0.09987 0.13065 None None None None None None CSAG1|0.000765743|96.9%

CYP2D7P

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 combined sample_93.variant38 22 rs2743456
dbSNP Clinvar
42536313 2213.51 G A PASS 0/1 162 STOP_GAINED HIGH None 0.22983 0.22980 None None None None None None None

DHDH

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 combined sample_93.variant38 19 rs10423255
dbSNP Clinvar
49445774 819.37 C T PASS 0/1 91 STOP_GAINED HIGH None 0.05511 0.05511 0.05951 None None None None None None DHDH|0.020170605|74.09%

DHRS4L2

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 combined sample_93.variant38 14 rs1811890
dbSNP Clinvar
24470138 876.95 C T PASS 0/1 204 STOP_GAINED HIGH None 0.12879 0.12880 0.05990 None None None None None None DHRS4L2|0.007168249|83.32%

DNAH11

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 combined sample_93.variant38 7 rs2285943
dbSNP Clinvar
21582963 6261.36 G T PASS 0/1 118 STOP_GAINED HIGH None 0.41194 0.41190 0.42685 None None None None None None DNAH11|0.38215847|21.9%

EFCAB13

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 combined sample_93.variant38 17 rs78865644
dbSNP Clinvar
45438788 1121.62 C T PASS 0/1 85 STOP_GAINED HIGH None 0.00339 0.00340 0.00754 None None None None None None EFCAB13|0.004226977|86.7%

EML3

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 combined sample_93.variant38 11 rs35156678
dbSNP Clinvar
62369881 5727.89 G A PASS 0/1 295 STOP_GAINED HIGH None 0.16554 0.16550 0.00153 None None None None None None EML3|0.147500051|43.38%

ERVW-1

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 combined sample_93.variant38 7 rs377372983
dbSNP Clinvar
92098918 138.78 G A PASS 0/1 83 STOP_GAINED HIGH None None None None None None None ERVW-1|0.015639065|76.69%

FAM104B

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 combined sample_93.variant38 X rs113263757
dbSNP Clinvar
55172630 1841.83 G A PASS 0/1 584 STOP_GAINED HIGH None None None None None None None FAM104B|0.001440975|93.08%

FCGR2A

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 combined sample_93.variant38 1 rs9427397
dbSNP Clinvar
161476204 6130.19 C T PASS 0/1 112 STOP_GAINED HIGH None 0.05611 0.05611 0.09680 None None None None None None FCGR2A|0.010324745|80.62%

FMO6P

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 combined sample_93.variant38 1 rs1736565
dbSNP Clinvar
171112490 578.15 C T PASS 0/1 39 STOP_GAINED HIGH None 0.63798 0.63800 None None None None None None FMO6P|0.046611182|63.71%

FUT2

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 combined sample_93.variant38 19 rs601338
dbSNP Clinvar
49206674 14056.8 G A PASS 1/1 388 STOP_GAINED HIGH None 0.32169 0.32170 0.49346 None None None None None None FUT2|0.006958625|83.54%

GOLGA6L6

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 combined sample_93.variant38 15 rs199807662
dbSNP Clinvar
20740252 158.25 C A PASS 0/1 16 STOP_GAINED HIGH None None None None None None None GOLGA6L6|0.001311756|93.81%

GXYLT1

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 combined sample_93.variant38 12 rs77044712
dbSNP Clinvar
42499692 66.65 A T PASS 0/1 72 STOP_GAINED HIGH None None None None None None None GXYLT1|0.137586291|44.77%
View combined sample_93.variant38 12 . 42538352 247.33 C A PASS 0/1 47 STOP_GAINED HIGH None None None None None None None GXYLT1|0.137586291|44.77%

GZMB

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 combined sample_93.variant38 14 rs2273844
dbSNP Clinvar
25103414 888.49 G A PASS 0/1 100 STOP_GAINED HIGH None 0.29593 0.29590 0.26541 None None None None None None GZMB|0.006218713|84.38%

H2BFM

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 combined sample_93.variant38 X rs2301384
dbSNP Clinvar
103294760 2081.44 C T PASS 0/1 122 STOP_GAINED HIGH None 0.30649 0.30650 0.31444 None None None None None None H2BFM|0.000467272|98.6%

HAPLN3

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 combined sample_93.variant38 15 rs8039131
dbSNP Clinvar
89436295 1739.96 G A PASS 0/1 127 STOP_GAINED HIGH None 0.39756 0.39760 None None None None None None HAPLN3|0.017075208|75.79%

HLA-A

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 combined sample_93.variant38 6 rs9260156
dbSNP Clinvar
29911240 4371.57 T A,G PASS 0/1 293 STOP_GAINED HIGH None 0.22863 0.22860 0.27307 None None None None None None HLA-A|0.043055872|64.8%

HLA-DPB1

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 combined sample_93.variant38 6 rs1126511
dbSNP Clinvar
33048466 2799.93 G T PASS 0/1 132 STOP_GAINED HIGH None 0.27097 0.27100 None None None None None None HLA-DPA1|0.007131154|83.36%,HLA-DPB1|0.007827013|82.73%

HLA-DQB1

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 combined sample_93.variant38 6 rs1130385
dbSNP Clinvar
32632638 2306.17 C A PASS 0/1 259 STOP_GAINED HIGH None 0.01036 None None None None None None HLA-DQB1|0.132406558|45.55%

HLA-DRB1

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 combined sample_93.variant38 6 rs11554463
dbSNP Clinvar
32551935 152.37 G C,T,A PASS 0/3 198 STOP_GAINED HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%
View combined sample_93.variant38 6 rs9269958
dbSNP Clinvar
32552143 2068.63 C T PASS 0/1 82 STOP_GAINED HIGH None 0.69429 0.69430 None None None None None None HLA-DRB1|0.032266025|68.49%

HLA-DRB5

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 combined sample_93.variant38 6 rs1071747
dbSNP Clinvar
32489940 307.69 G A,C,T PASS 1/1 25 STOP_GAINED HIGH None 0.04728 None None None None None None HLA-DRB5|0.020830666|73.74%
View combined sample_93.variant38 6 rs41554620
dbSNP Clinvar
32489731 1159.37 G C,A PASS 1/1 52 STOP_GAINED HIGH None 0.01416 None None None None None None HLA-DRB5|0.020830666|73.74%
View combined sample_93.variant38 6 rs71549219
dbSNP Clinvar
32497905 737.26 G A,T PASS 2/1 87 STOP_GAINED HIGH None None None None None None None HLA-DRB5|0.020830666|73.74%
View combined sample_93.variant38 6 rs201046358
dbSNP Clinvar
32486438 107.2 G A PASS 0/1 4 STOP_GAINED HIGH None 0.12061 0.12060 None None None None None None HLA-DRB5|0.020830666|73.74%

IDUA

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 combined sample_93.variant38 4 rs114806891
dbSNP Clinvar
995868 3863.94 C T PASS 0/1 295 STOP_GAINED HIGH None 0.02995 0.02995 0.04779 None None None None None None IDUA|0.029239536|69.73%

IFI27L1

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 combined sample_93.variant38 14 rs79237142
dbSNP Clinvar
94563265 1338.91 C T PASS 0/1 115 STOP_GAINED HIGH None 0.03634 0.03634 0.07343 None None None None None None IFI27L1|0.001664332|92.02%

IFNA10

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 combined sample_93.variant38 9 rs10119910
dbSNP Clinvar
21207037 1473.49 A T PASS 0/1 52 STOP_GAINED HIGH None 2.78 0.00 0.1247 T None None None None IFNA10|0.00042174|98.84%

IGLV5-48

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 combined sample_93.variant38 22 rs148013584
dbSNP Clinvar
22707728 1264.08 C T PASS 0/1 90 STOP_GAINED HIGH None None None None None None None None

KRTAP10-6

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 combined sample_93.variant38 21 rs233303
dbSNP Clinvar
46011583 4374.26 G T PASS 0/1 316 STOP_GAINED HIGH None 0.21625 0.21630 0.21621 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-6|0.002193363|90.43%

KRTAP13-2

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 combined sample_93.variant38 21 rs877346
dbSNP Clinvar
31744127 1387.3 A T PASS 0/1 89 STOP_GAINED HIGH None 0.31809 0.31810 0.39397 None None None None None None KRTAP13-2|0.007131387|83.36%

LGALS8

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 combined sample_93.variant38 1 rs2273865
dbSNP Clinvar
236706300 1126.07 T A PASS 0/1 80 STOP_GAINED HIGH None 0.13119 0.13120 0.09165 None None None None None None LGALS8|0.03333972|68.01%

LINC00955

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 combined sample_93.variant38 4 rs62272968
dbSNP Clinvar
3590730 1830.91 G A PASS 0/1 80 STOP_GAINED HIGH None None None None None None None LINC00955|0.001348255|93.6%

LMNA

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 combined sample_93.variant38 1 rs267607544
dbSNP Clinvar
156108540 1666.24 C T PASS 0/1 128 STOP_GAINED HIGH None None None None None None None LMNA|0.969979508|1.72%

LPL

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 combined sample_93.variant38 8 rs328
dbSNP Clinvar
19819724 1207.94 C G PASS 0/1 85 STOP_GAINED HIGH None 0.09245 0.09245 0.08635 None None None None None None LPL|0.781570862|6.28%

MAGEB16

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 combined sample_93.variant38 X rs4829392
dbSNP Clinvar
35821127 1459.11 C T PASS 1/1 89 STOP_GAINED HIGH None 0.62040 0.62040 0.45504 None None None None None None MAGEB16|0.000965806|95.69%

MAP2K3

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 combined sample_93.variant38 17 rs55796947
dbSNP Clinvar
21204210 401.82 C T PASS 0/1 125 STOP_GAINED HIGH None None None None None None None MAP2K3|0.4379498|18.79%

MOB3C

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 combined sample_93.variant38 1 rs6671527
dbSNP Clinvar
47080679 3125.08 G A PASS 0/1 78 STOP_GAINED HIGH None 0.64217 0.64220 0.49877 None None None None None None MKNK1|0.390435521|21.38%,MOB3C|0.199575043|36.77%

MS4A12

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 combined sample_93.variant38 11 rs2298553
dbSNP Clinvar
60265002 1140.1 C T PASS 0/1 76 STOP_GAINED HIGH None 0.47824 0.47820 0.45241 None None None None None None MS4A12|0.000555931|98.15%

MTCH2

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 combined sample_93.variant38 11 rs796096347
dbSNP Clinvar
47644271 402.94 C T PASS 0/1 75 STOP_GAINED HIGH None None None None None None None MTCH2|0.544905089|13.99%

MUC12

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 combined sample_93.variant38 7 rs79851456
dbSNP Clinvar
100616185 175.08 C T PASS 0/1 87 STOP_GAINED HIGH None None None None None None None MUC12|0.000890812|96.07%

MUC19

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 combined sample_93.variant38 12 rs10784618
dbSNP Clinvar
40834955 1822.58 C A PASS 0/1 122 STOP_GAINED HIGH None 0.51837 0.51840 None None None None None None MUC19|0.001564481|92.49%

MUC3A

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 combined sample_93.variant38 7 rs79874934
dbSNP Clinvar
100552738 3243.16 C T PASS 0/1 367 STOP_GAINED HIGH None None None None None None None MUC3A|0.001683398|91.94%

MUC6

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 combined sample_93.variant38 11 rs201054567
dbSNP Clinvar
1017466 2867.32 T C,A PASS 0/1 935 STOP_GAINED HIGH None -1.29 None None None None None None MUC6|0.00166044|92.04%

NBPF10

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 combined sample_93.variant38 1 rs201638494
dbSNP Clinvar
145368664 2091.17 G T PASS 0/1 342 STOP_GAINED HIGH None 0.00419 0.00419 None None None None None None NBPF10|0.000914854|95.95%

NBPF14

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 combined sample_93.variant38 1 rs78765201
dbSNP Clinvar
148004568 331.31 C A PASS 0/1 36 STOP_GAINED HIGH None 0.08007 0.08007 None None None None None None NBPF14|0.000854747|96.33%

NBPF9

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 combined sample_93.variant38 1 rs114576842
dbSNP Clinvar
144828764 544.19 G T PASS 0/1 214 STOP_GAINED HIGH None None None None None None None NBPF9|0.001397166|93.36%

NCOR1

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 combined sample_93.variant38 17 rs78230791
dbSNP Clinvar
16068343 210.91 G A PASS 0/1 36 STOP_GAINED HIGH None None None None None None None NCOR1|0.942283614|2.42%

NDUFB9

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 combined sample_93.variant38 8 rs6470252
dbSNP Clinvar
125579990 785.8 C T PASS 1/1 88 STOP_GAINED HIGH None 0.62460 0.62460 None None None None None None NDUFB9|0.09890784|51.37%,MTSS1|0.361449802|23.34%

NPDC1

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 combined sample_93.variant38 9 rs10781536
dbSNP Clinvar
139937799 3421.33 G A PASS 1/1 141 STOP_GAINED HIGH None 0.99701 0.99700 None None None None None None NPDC1|0.003521242|87.74%

NPIPB15

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 combined sample_93.variant38 16 rs375776693
dbSNP Clinvar
74425787 1718.15 G T PASS 0/1 233 STOP_GAINED HIGH None None None None None None None NPIPB15|0.001585101|92.38%
View combined sample_93.variant38 16 rs369331764
dbSNP Clinvar
74425946 117.59 C T PASS 0/1 17 STOP_GAINED HIGH None None None None None None None NPIPB15|0.001585101|92.38%

OR10X1

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 combined sample_93.variant38 1 rs863362
dbSNP Clinvar
158549492 836.6 C T PASS 0/1 99 STOP_GAINED HIGH None 0.50240 0.50240 0.48631 None None None None None None OR10X1|0.012275665|79.05%

OR1B1

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 combined sample_93.variant38 9 rs1476860
dbSNP Clinvar
125391241 965.27 G A PASS 0/1 112 STOP_GAINED HIGH None 0.33926 0.33930 0.22697 None None None None None None OR1B1|0.014476392|77.51%

OR2J1

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 combined sample_93.variant38 6 rs2394517
dbSNP Clinvar
29069299 5132.02 C T PASS 0/1 347 STOP_GAINED HIGH None 0.33706 0.33710 None None None None None None OR2J1|0.002737033|89.18%

OR2L8

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 combined sample_93.variant38 1 rs10888281
dbSNP Clinvar
248113026 3810.96 T A PASS 1/1 133 STOP_GAINED HIGH None 0.74581 0.74580 0.25235 None None None None None None OR2L13|0.004043561|86.95%,OR2L8|0.001567189|92.47%

OR4C16

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 combined sample_93.variant38 11 rs1459101
dbSNP Clinvar
55339652 1340.23 C T PASS 1/1 78 STOP_GAINED HIGH None 0.25260 0.25260 0.21941 None None None None None None OR4C16|0.00479956|86.1%

OR4C3

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 combined sample_93.variant38 11 rs72473368
dbSNP Clinvar
48347014 2833.94 G A PASS 0/1 261 STOP_GAINED HIGH None None None None None None None OR4C3|0.012915684|78.55%

OR4C5

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 combined sample_93.variant38 11 rs77053100
dbSNP Clinvar
48387201 3929.18 G A PASS 0/1 181 STOP_GAINED HIGH None None None None None None None OR4C5|0.011466291|79.62%
View combined sample_93.variant38 11 rs73460781
dbSNP Clinvar
48387850 1560.41 G T PASS 0/1 136 STOP_GAINED HIGH None None None None None None None OR4C5|0.011466291|79.62%
View combined sample_93.variant38 11 rs74338058
dbSNP Clinvar
48387900 2720.81 G A PASS 0/1 146 STOP_GAINED HIGH None None None None None None None OR4C5|0.011466291|79.62%
View combined sample_93.variant38 11 rs78160589
dbSNP Clinvar
48387978 1740.14 T A PASS 0/1 110 STOP_GAINED HIGH None None None None None None None OR4C5|0.011466291|79.62%

OR4X1

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 combined sample_93.variant38 11 rs10838851
dbSNP Clinvar
48286231 4790.17 T A PASS 1/1 129 STOP_GAINED HIGH None 0.60423 0.60420 0.30936 None None None None None None OR4X1|0.01331956|78.29%

OR51Q1

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 combined sample_93.variant38 11 rs2647574
dbSNP Clinvar
5444136 1489.54 C T PASS 0/1 149 STOP_GAINED HIGH None 0.45387 0.45390 0.36196 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%

OR52J3

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 combined sample_93.variant38 11 rs57026471
dbSNP Clinvar
5068662 1349.77 C T PASS 0/1 60 STOP_GAINED HIGH None 0.11322 0.11320 0.08271 None None None None None None OR52J3|0.009426184|81.35%

OR52N4

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 combined sample_93.variant38 11 rs4910844
dbSNP Clinvar
5776484 3190.99 A T PASS 0/1 174 STOP_GAINED HIGH None 0.21446 0.21450 0.20916 None None None None None None TRIM5|0.00243037|89.82%,OR52N4|0.035426134|67.34%

OR5AR1

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 combined sample_93.variant38 11 rs11228710
dbSNP Clinvar
56431216 7517.32 C T PASS 1/1 183 STOP_GAINED HIGH None 0.62300 0.62300 0.42966 None None None None None None OR5AR1|0.094213809|52.31%

PABPC1

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 combined sample_93.variant38 8 rs142985461
dbSNP Clinvar
101721899 138.0 C A PASS 0/1 82 STOP_GAINED HIGH None None None None None None None PABPC1|0.793315578|6.01%

PABPC3

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 combined sample_93.variant38 13 rs80062522
dbSNP Clinvar
25671210 1353.25 C T PASS 0/1 148 STOP_GAINED HIGH None None None None None None None PABPC3|0.002678651|89.3%

PDE4DIP

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 combined sample_93.variant38 1 rs2762779
dbSNP Clinvar
145075683 2480.3 C T PASS 0/1 231 STOP_GAINED HIGH None None None None None None None PDE4DIP|0.07469644|56.36%
View combined sample_93.variant38 1 rs1778111
dbSNP Clinvar
144915561 1600.31 G A PASS 0/1 140 STOP_GAINED HIGH None None None None None None None PDE4DIP|0.07469644|56.36%
View combined sample_93.variant38 1 rs1698683
dbSNP Clinvar
144916676 548.09 C T PASS 0/1 127 STOP_GAINED HIGH None 0.32120 None None None None None None PDE4DIP|0.07469644|56.36%

PFKL

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 combined sample_93.variant38 21 rs118169148
dbSNP Clinvar
45725746 1480.21 C T PASS 0/1 114 STOP_GAINED HIGH None 0.01737 0.01737 0.03540 None None None None None None PFKL|0.096575796|51.8%

PKD1L2

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 combined sample_93.variant38 16 rs12925771
dbSNP Clinvar
81199544 3146.5 G A PASS 0/1 65 STOP_GAINED HIGH None 0.38718 0.38720 0.22989 None None None None None None PKD1L2|0.005531409|85.17%
View combined sample_93.variant38 16 rs7499011
dbSNP Clinvar
81242198 1089.49 G A PASS 0/1 113 STOP_GAINED HIGH None 0.16174 0.16170 0.29020 None None None None None None PKD1L2|0.005531409|85.17%

PMEL

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 combined sample_93.variant38 12 rs149390347
dbSNP Clinvar
56351360 955.95 G A PASS 0/1 76 STOP_GAINED HIGH None 0.00031 None None None None None None PMEL|0.146452699|43.54%