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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
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FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes:
AGAP7, AGAP8, AGAP9, AL603965.1, AL627309.1, ANAPC1, ANKRD20A1, ANKRD20A2, ANKRD20A4, ANKRD30A, ANKRD34A, ANXA8L1, AREGB, ARHGEF15, ARHGEF5, ASXL3, B3GNT3, BMP8B, BX088651.1, C16orf62, CBWD1, CBWD6, CCDC74A, CCZ1, CCZ1B, CEP170, CGB2, CH17-132F21.1, CHRFAM7A, CHRNA7, CLEC18B, CLEC18C, CNTNAP3B, CPSF3L, CTAGE4, CTAGE9, CTBP2, CXorf40B, DAAM2, DNASE1L2, DUX4L5, DUX4L7, ECM1, EMX2, ERVV-1, FAM115C, FAM21A, FAM21C, FAM27E1, FAM27E3, FAM86B2, FCGBP, FOXB2, FOXD4L5, FRG1, FRG1B, FRG2B, FRMPD2, GAB2, GMPPB, GOLGA6L19, GOLGA8H, GOLGA8I, GOLGA8J, GOLGA8Q, GPR137, GSE1, GSTT2B, GTF2IRD2, HLA-DRB1, HLA-DRB5, HNRNPC, HRNR, IGHV6-1, IGKV1-17, IGKV1D-13, IGKV3D-15, IGKV3OR2-268, IGLJ2, IGLJ3, IGSF3, KCNH6, KIAA1522, KMT2D, KMT2E, KRTAP5-1, KRTAP9-2, KSR1, LILRB3, LRRC37A, LRRC37A3, MBD3L3, MEX3B, MLXIPL, MUC12, MUC19, MUC22, MUC4, MUC6, NBPF10, NBPF14, NBPF15, NBPF16, NBPF3, NBPF9, NEB, NPIPA1, NPIPB4, NUTM2A, NUTM2D, NUTM2E, OR11H1, OR11H12, OR2A1, OR4F5, PABPC1, PALM3, PLIN4, POM121C, POM121L7, POTEC, POTED, POTEE, POTEF, POTEG, POTEI, POTEJ, PRAMEF1, PRAMEF12, PRAMEF13, PRAMEF18, PRAMEF19, PRAMEF22, PRDM9, PRR23D1, PRSS3, RAB40B, RGPD4, RGPD8, RHOXF2, RIMBP3, RIMBP3B, RIN2, RP11-514P8.7, RP11-683L23.1, RSPH10B, SALL3, SENP3, SHROOM3, SLC23A2, SLC45A1, SMC1A, SPATA31A3, SPATA31A6, SPATA31A7, TAS2R31, TBC1D3, TBC1D3H, TCF7L2, TCP10L2, TIMM23, TLN1, TPSAB1, TPTE2, TRBV5-5, TRBV6-5, TRBV6-7, TRBV7-1, USP17L17, USP17L18, USP17L22, USP6, WIPF3, ZNF257, ZNF492, ZNF575, ZNF587, ZNF646, ZNF705D, ZNF729, ZNF98,

Genes at Omim

ASXL3, ECM1, EMX2, GMPPB, HLA-DRB1, IGSF3, KMT2D, NEB, RIN2, SLC45A1, SMC1A, TCF7L2,
ASXL3 Bainbridge-Ropers syndrome, 615485 (3)
ECM1 Urbach-Wiethe disease, 247100 (3)
EMX2 Schizencephaly, 269160 (3)
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
KMT2D Kabuki syndrome 1, 147920 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
SLC45A1 Intellectual developmental disorder with neuropsychiatric features, 617532 (3)
SMC1A Cornelia de Lange syndrome 2, 300590 (3)
TCF7L2 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3)

Genes at Clinical Genomics Database

ASXL3, ECM1, EMX2, GMPPB, IGSF3, KMT2D, NEB, RIN2, SMC1A,
ASXL3 Bainbridge-Ropers syndrome
ECM1 Lipoid proteinosis
EMX2 Schizencephaly
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type B, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type C, 14
IGSF3 Lacrimal duct defect
KMT2D Kabuki syndrome 1
NEB Nemaline myopathy 2
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis
SMC1A Cornelia de Lange syndrome 2

Genes at HGMD

Summary

Number of Variants: 1308
Number of Genes: 181

Export to: CSV

AGAP7

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_72.variant33 10 rs200366013
dbSNP Clinvar
51465131 1534.46 A G DRAGENHardSNP 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.09265 0.09265 0.09 0.08 None None None None None None AGAP7P|0.001668593|92.02%
View combined sample_72.variant33 10 rs201025969
dbSNP Clinvar
51465138 757.93 C T DRAGENHardSNP 0/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.16673 0.16670 0.03 0.15 None None None None None None AGAP7P|0.001668593|92.02%

AGAP8

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_72.variant33 10 rs782795368
dbSNP Clinvar
51225872 176.62 G T DRAGENHardSNP 1/1 17 SYNONYMOUS_CODING LOW None None None None None None None None
View combined sample_72.variant33 10 rs80103077
dbSNP Clinvar
51225623 152.92 A G DRAGENHardSNP 0/1 29 SYNONYMOUS_CODING LOW None 0.82029 0.82030 None None None None None None None

AGAP9

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_72.variant33 10 rs200283865
dbSNP Clinvar
48235892 308.2 C T DRAGENHardSNP 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.00 None None None None None None AGAP9|0.003287592|88.1%

AL603965.1

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_72.variant33 10 rs782340671
dbSNP Clinvar
47769358 248.84 G A DRAGENHardSNP 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None None
View combined sample_72.variant33 10 rs782408852
dbSNP Clinvar
47769386 51.33 G A DRAGENHardSNP 0/1 7 SYNONYMOUS_CODING LOW None None None None None None None None

AL627309.1

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_72.variant33 1 rs375595668
dbSNP Clinvar
138593 33.74 G T DRAGENHardSNP 0/1 10 SYNONYMOUS_CODING LOW None 0.04513 0.04513 None None None None None None None
View combined sample_72.variant33 1 rs373847457
dbSNP Clinvar
139233 758.87 C A DRAGENHardSNP 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.00 None None None None None None None
View combined sample_72.variant33 1 rs370723703
dbSNP Clinvar
139213 725.1 A G DRAGENHardSNP 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.38 0.00 None None None None None None None

ANAPC1

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_72.variant33 2 rs77591803
dbSNP Clinvar
112541903 114.87 C T DRAGENHardSNP 0/1 203 SYNONYMOUS_CODING LOW None 0.01161 None None None None None None ANAPC1|0.14646446|43.53%

ANKRD20A1

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_72.variant33 9 rs779353799
dbSNP Clinvar
67938626 101.25 A G DRAGENHardSNP 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.80 None None None None None None ANKRD20A1|0.001623081|92.24%
View combined sample_72.variant33 9 rs757153521
dbSNP Clinvar
67927001 55.46 A G DRAGENHardSNP 1/1 3 SYNONYMOUS_CODING LOW None None None None None None None ANKRD20A1|0.001623081|92.24%
View combined sample_72.variant33 9 rs62542472
dbSNP Clinvar
67968476 581.33 C T DRAGENHardSNP 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.00 None None None None None None ANKRD20A1|0.001623081|92.24%

ANKRD20A2

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_72.variant33 9 rs2940832
dbSNP Clinvar
42410368 155.68 T C DRAGENHardSNP 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.04 None None None None None None ANKRD20A3|0.001944577|91.12%,ANKRD20A2|0.001339079|93.66%
View combined sample_72.variant33 9 rs75596179
dbSNP Clinvar
42368600 124.7 C T DRAGENHardSNP 0/1 98 SYNONYMOUS_CODING LOW None None None None None None None ANKRD20A3|0.001944577|91.12%,ANKRD20A2|0.001339079|93.66%
View combined sample_72.variant33 9 rs200348657
dbSNP Clinvar
42368614 459.83 A G DRAGENHardSNP 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.15 None None None None None None ANKRD20A3|0.001944577|91.12%,ANKRD20A2|0.001339079|93.66%

ANKRD20A4

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_72.variant33 9 rs201112034
dbSNP Clinvar
69423721 539.21 G A DRAGENHardSNP 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.52 0.00 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_72.variant33 9 . 69423700 499.42 G A DRAGENHardSNP 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_72.variant33 9 rs200741673
dbSNP Clinvar
69423703 499.42 A C DRAGENHardSNP 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.18 None None None None None None ANKRD20A4|0.002453356|89.79%

ANKRD30A

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_72.variant33 10 rs2997349
dbSNP Clinvar
37478445 253.29 G A DRAGENHardSNP 1/1 9 SYNONYMOUS_CODING LOW None 0.93171 0.93170 None None None None None None ANKRD30A|0.001436042|93.14%

ANKRD34A

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_72.variant33 1 rs781900571
dbSNP Clinvar
145474626 610.64 A C DRAGENHardSNP 0/1 219 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.56 None None None None None None ANKRD34A|0.19061906|37.75%
View combined sample_72.variant33 1 . 145474634 131.01 A C DRAGENHardSNP 0/1 203 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.18 None None None None None None ANKRD34A|0.19061906|37.75%
View combined sample_72.variant33 1 rs782661640
dbSNP Clinvar
145474630 159.58 T C DRAGENHardSNP 0/1 217 SYNONYMOUS_CODING LOW None None None None None None None ANKRD34A|0.19061906|37.75%

ANXA8L1

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_72.variant33 10 rs184551877
dbSNP Clinvar
47158870 40.72 G A DRAGENHardSNP 0/1 15 SYNONYMOUS_CODING LOW None 0.00200 0.00200 0.00422 None None None None None None ANXA8L1|0.017311814|75.66%

AREGB

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_72.variant33 4 rs2291715
dbSNP Clinvar
75485872 339.58 C T DRAGENHardSNP 0/1 6 SYNONYMOUS_CODING LOW None 0.10224 0.10220 0.05217 None None None None None None None

ARHGEF15

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_72.variant33 17 . 8216397 357.22 T C DRAGENHardSNP 0/1 158 SYNONYMOUS_CODING LOW None None None None None None None ARHGEF15|0.03636471|66.99%
View combined sample_72.variant33 17 . 8216393 354.21 A C DRAGENHardSNP 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.00 None None None None None None ARHGEF15|0.03636471|66.99%

ARHGEF5

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_72.variant33 7 rs200279177
dbSNP Clinvar
144061119 151.63 C T DRAGENHardSNP 1/1 33 SYNONYMOUS_CODING LOW None 0.12081 0.12080 0.07239 None None None None None None ARHGEF5|0.018074391|75.24%

ASXL3

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_72.variant33 18 . 31325878 51.48 T C DRAGENHardSNP 0/1 26 SYNONYMOUS_CODING LOW None None None None None None None ASXL3|0.548869749|13.78%

B3GNT3

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_72.variant33 19 . 17918784 81.54 A C DRAGENHardSNP 0/1 92 SYNONYMOUS_CODING LOW None None None None None None None B3GNT3|0.00215134|90.58%
View combined sample_72.variant33 19 . 17918785 65.47 G C DRAGENHardSNP 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None B3GNT3|0.00215134|90.58%
View combined sample_72.variant33 19 rs748713443
dbSNP Clinvar
17918780 691.61 G C DRAGENHardSNP 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.00 None None None None None None B3GNT3|0.00215134|90.58%
View combined sample_72.variant33 19 . 17918776 694.49 A C DRAGENHardSNP 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.38 0.00 None None None None None None B3GNT3|0.00215134|90.58%

BMP8B

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_72.variant33 1 rs179472
dbSNP Clinvar
40230336 1746.8 C G DRAGENHardSNP 0/1 615 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None BMP8B|0.042910691|64.83%

BX088651.1

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_72.variant33 9 rs62539453
dbSNP Clinvar
44401960 60.22 G A DRAGENHardSNP 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None None

C16orf62

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_72.variant33 16 . 19593007 575.15 G C DRAGENHardSNP 0/1 112 None None None 0.00 None None None None None None C16orf62|0.11372592|48.53%
View combined sample_72.variant33 16 rs3841564
dbSNP Clinvar
19592996 510.58 A C DRAGENHardSNP 0/1 134 None None None None None None None None None C16orf62|0.11372592|48.53%
View combined sample_72.variant33 16 rs773662550
dbSNP Clinvar
19593002 512.27 A C DRAGENHardSNP 0/1 138 None None None None None None None None None C16orf62|0.11372592|48.53%
View combined sample_72.variant33 16 . 19593006 575.15 A C DRAGENHardSNP 0/1 119 None None None None None None None None None C16orf62|0.11372592|48.53%

CBWD1

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_72.variant33 9 rs2482169
dbSNP Clinvar
163985 94.7 A G DRAGENHardSNP 0/1 71 SYNONYMOUS_CODING LOW None None None None None None None CBWD1|0.029140848|69.81%

CBWD6

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_72.variant33 9 rs62553375
dbSNP Clinvar
69206924 234.07 T A DRAGENHardSNP 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.07 None None None None None None CBWD6|0.011508605|79.59%

CCDC74A

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_72.variant33 2 rs11547023
dbSNP Clinvar
132288315 1425.34 G A DRAGENHardSNP 0/1 115 SYNONYMOUS_CODING LOW None None None None None None None CCDC74A|0.002342397|90.07%

CCZ1

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_72.variant33 7 rs200812052
dbSNP Clinvar
5959485 3292.64 G A DRAGENHardSNP 0/1 215 NON_SYNONYMOUS_CODING MODERATE None 0.64 0.00 None None None None None None CCZ1|0.176689496|39.44%

CCZ1B

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_72.variant33 7 rs62441800
dbSNP Clinvar
6844574 1105.72 C G DRAGENHardSNP 0/1 153 NON_SYNONYMOUS_CODING MODERATE None 0.32935 0.80 0.00 None None None None None None CCZ1B|0.018364277|75.04%

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_72.variant33 1 rs2631092
dbSNP Clinvar
243354791 37.3 C T DRAGENHardSNP 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.84744 0.84740 1.00 0.00 None None None None None None CEP170|0.244807399|32.03%

CGB2

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_72.variant33 19 rs200580991
dbSNP Clinvar
49535797 158.1 A G DRAGENHardSNP 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.80 0.00 None None None None None None CGB2|0.003272202|88.14%

CH17-132F21.1

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_72.variant33 2 rs879130175
dbSNP Clinvar
90458538 1200.33 T C DRAGENHardSNP 0/1 279 NON_SYNONYMOUS_CODING MODERATE None None None None None None None None
View combined sample_72.variant33 2 rs796119898
dbSNP Clinvar
90458594 4017.35 T C DRAGENHardSNP 0/1 682 SYNONYMOUS_CODING LOW None None None None None None None None

CHRFAM7A

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_72.variant33 15 rs149526715
dbSNP Clinvar
30664453 795.67 C T DRAGENHardSNP 1/1 79 SYNONYMOUS_CODING LOW None 0.96306 0.96310 None None None None None None CHRFAM7A|0.105656151|50.1%

CHRNA7

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_72.variant33 15 rs1042722
dbSNP Clinvar
32450704 719.08 G A DRAGENHardSNP 0/1 224 SYNONYMOUS_CODING LOW None None None None None None None CHRNA7|0.168515319|40.52%

CLEC18B

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_72.variant33 16 rs62056016
dbSNP Clinvar
74452071 3567.8 G A DRAGENHardSNP 0/1 966 SYNONYMOUS_CODING LOW None None None None None None None CLEC18B|0.011397398|79.7%

CLEC18C

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_72.variant33 16 rs3869429
dbSNP Clinvar
70211380 844.45 G A DRAGENHardSNP 0/1 264 SYNONYMOUS_CODING LOW None None None None None None None CLEC18C|0.029999464|69.41%
View combined sample_72.variant33 16 rs62052576
dbSNP Clinvar
70211199 249.73 T C DRAGENHardSNP 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.48 0.00 None None None None None None CLEC18C|0.029999464|69.41%
View combined sample_72.variant33 16 rs62052577
dbSNP Clinvar
70211226 1818.43 T C DRAGENHardSNP 0/1 246 NON_SYNONYMOUS_CODING MODERATE None 0.46 0.00 None None None None None None CLEC18C|0.029999464|69.41%
View combined sample_72.variant33 16 rs2549610
dbSNP Clinvar
70211290 2847.9 T C DRAGENHardSNP 0/1 521 SYNONYMOUS_CODING LOW None None None None None None None CLEC18C|0.029999464|69.41%
View combined sample_72.variant33 16 rs3869428
dbSNP Clinvar
70211370 880.43 C G DRAGENHardSNP 0/1 314 NON_SYNONYMOUS_CODING MODERATE None 0.54 0.01 None None None None None None CLEC18C|0.029999464|69.41%

CNTNAP3B

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_72.variant33 9 rs62555055
dbSNP Clinvar
43822686 497.25 C A DRAGENHardSNP 0/1 243 NON_SYNONYMOUS_CODING MODERATE None 0.41 0.23 None None None None None None CNTNAP3B|0.003821974|87.27%
View combined sample_72.variant33 9 rs1755755
dbSNP Clinvar
43822749 551.89 G A DRAGENHardSNP 0/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.47 0.00 None None None None None None CNTNAP3B|0.003821974|87.27%
View combined sample_72.variant33 9 rs3739620
dbSNP Clinvar
43822762 126.14 C T DRAGENHardSNP 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.39317 0.39320 0.78 0.01 None None None None None None CNTNAP3B|0.003821974|87.27%
View combined sample_72.variant33 9 rs3739623
dbSNP Clinvar
43822668 1063.66 C T DRAGENHardSNP 0/1 246 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.44 None None None None None None CNTNAP3B|0.003821974|87.27%
View combined sample_72.variant33 9 rs62555056
dbSNP Clinvar
43822704 506.23 G A DRAGENHardSNP 0/1 217 NON_SYNONYMOUS_CODING MODERATE None 0.26 0.02 None None None None None None CNTNAP3B|0.003821974|87.27%

CPSF3L

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_72.variant33 1 . 1257289 1012.93 T C DRAGENHardSNP 0/1 298 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None CPSF3L|0.282030759|28.96%

CTAGE4

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_72.variant33 7 rs201010806
dbSNP Clinvar
143882673 1005.25 C T DRAGENHardSNP 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None CTAGE4|0.001500655|92.78%

CTAGE9

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_72.variant33 6 rs200750273
dbSNP Clinvar
132030560 448.86 G A DRAGENHardSNP 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.31250 0.31250 0.14 0.13 None None None None None None ENPP3|0.065798874|58.41%,CTAGE9|0.00158445|92.39%

CTBP2

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_72.variant33 10 rs201671356
dbSNP Clinvar
126683150 232.87 A G DRAGENHardSNP 0/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.78 None None None None None None CTBP2|0.585435328|12.33%
View combined sample_72.variant33 10 rs968566248
dbSNP Clinvar
126683166 108.66 C A DRAGENHardSNP 0/1 151 STOP_GAINED HIGH None None None None None None None CTBP2|0.585435328|12.33%

CXorf40B

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_72.variant33 X rs138271866
dbSNP Clinvar
149100781 172.85 G T DRAGENHardSNP 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None CXorf40B|0.004815287|86.08%

DAAM2

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_72.variant33 6 . 39847070 235.81 T C DRAGENHardSNP 0/1 52 SYNONYMOUS_CODING LOW None None None None None None None DAAM2|0.279268507|29.17%

DNASE1L2

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_72.variant33 16 rs773488458
dbSNP Clinvar
2287496 1050.23 T C DRAGENHardSNP 0/1 182 NON_SYNONYMOUS_CODING MODERATE None 0.43 0.00 None None None None None None DNASE1L2|0.018597779|74.93%
View combined sample_72.variant33 16 . 2287505 594.29 G C DRAGENHardSNP 0/1 180 NON_SYNONYMOUS_CODING MODERATE None 0.28 0.00 None None None None None None DNASE1L2|0.018597779|74.93%
View combined sample_72.variant33 16 rs993537271
dbSNP Clinvar
2287501 602.05 T C DRAGENHardSNP 0/1 179 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.00 None None None None None None DNASE1L2|0.018597779|74.93%

DUX4L5

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_72.variant33 4 . 190999027 61.77 G T DRAGENHardSNP 1/1 2 STOP_GAINED HIGH None None None None None None None DUX4L5|0.001502836|92.77%
View combined sample_72.variant33 4 . 190999022 61.77 G A DRAGENHardSNP 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.01 1.00 None None None None None None DUX4L5|0.001502836|92.77%

DUX4L7

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_72.variant33 4 . 190992410 46.72 C T DRAGENHardSNP 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None DUX4L7|0.000778837|96.8%
View combined sample_72.variant33 4 . 190992400 46.72 C A DRAGENHardSNP 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.12 None None None None None None DUX4L7|0.000778837|96.8%
View combined sample_72.variant33 4 . 190992407 49.73 G A,T DRAGENHardSNP 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None DUX4L7|0.000778837|96.8%
View combined sample_72.variant33 4 . 190992422 46.72 C G DRAGENHardSNP 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None DUX4L7|0.000778837|96.8%
View combined sample_72.variant33 4 rs371361094
dbSNP Clinvar
190992381 181.72 A C,T DRAGENHardSNP 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None DUX4L7|0.000778837|96.8%
View combined sample_72.variant33 4 . 190992432 52.74 C T DRAGENHardSNP 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.11 None None None None None None DUX4L7|0.000778837|96.8%
View combined sample_72.variant33 4 . 190992428 52.74 A T DRAGENHardSNP 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.88 None None None None None None DUX4L7|0.000778837|96.8%
View combined sample_72.variant33 4 . 190992402 46.72 C G DRAGENHardSNP 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.13 0.08 None None None None None None DUX4L7|0.000778837|96.8%
View combined sample_72.variant33 4 . 190992369 136.72 C T DRAGENHardSNP 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.01 None None None None None None DUX4L7|0.000778837|96.8%
View combined sample_72.variant33 4 . 190992374 94.73 G A DRAGENHardSNP 1/1 3 SYNONYMOUS_CODING LOW None None None None None None None DUX4L7|0.000778837|96.8%

ECM1

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_72.variant33 1 . 150482162 436.84 A C DRAGENHardSNP 0/1 182 SYNONYMOUS_CODING LOW None None None None None None None ECM1|0.026066964|71.29%

EMX2

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_72.variant33 10 rs765761502
dbSNP Clinvar
119303022 225.28 G C DRAGENHardSNP 0/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None EMX2|0.742134957|7.32%

ERVV-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_72.variant33 19 rs140876268
dbSNP Clinvar
53518178 1437.51 C G DRAGENHardSNP 0/1 431 NON_SYNONYMOUS_CODING MODERATE None 0.54 0.48 None None None None None None ERVV-1|0.001458432|93%

FAM115C

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_72.variant33 7 rs62486261
dbSNP Clinvar
143417083 711.81 T C DRAGENHardSNP 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.35 0.22 None None None None None None TCAF2|0.0052901|85.43%

FAM21A

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_72.variant33 10 rs199520696
dbSNP Clinvar
51853633 113.91 C T DRAGENHardSNP 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.01 None None None None None None FAM21A|0.010195969|80.72%

FAM21C

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_72.variant33 10 . 46280045 72.2 A C DRAGENHardSNP 0/1 16 SYNONYMOUS_CODING LOW None None None None None None None FAM21C|0.010921038|80.13%

FAM27E1

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_72.variant33 9 rs199845075
dbSNP Clinvar
46386995 91.56 C A DRAGENHardSNP 1/1 13 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None FAM27E1|0.001351439|93.58%
View combined sample_72.variant33 9 rs78263181
dbSNP Clinvar
46386902 277.6 G A DRAGENHardSNP 1/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.99 None None None None None None FAM27E1|0.001351439|93.58%
View combined sample_72.variant33 9 rs78376488
dbSNP Clinvar
46386910 274.6 T C DRAGENHardSNP 1/1 8 SYNONYMOUS_CODING LOW None None None None None None None FAM27E1|0.001351439|93.58%
View combined sample_72.variant33 9 rs200544395
dbSNP Clinvar
46386956 304.23 C G DRAGENHardSNP 1/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.98 None None None None None None FAM27E1|0.001351439|93.58%
View combined sample_72.variant33 9 rs74921776
dbSNP Clinvar
46386994 91.56 C T DRAGENHardSNP 1/1 13 SYNONYMOUS_CODING LOW None None None None None None None FAM27E1|0.001351439|93.58%

FAM27E3

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_72.variant33 9 rs1656261
dbSNP Clinvar
67786101 84.5 C T DRAGENHardSNP 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.48 0.91 None None None None None None FAM27E3|0.001663605|92.03%

FAM86B2

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_72.variant33 8 rs2684093
dbSNP Clinvar
12291593 378.74 C A DRAGENHardSNP 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.29 None None None None None None FAM86B2|0.001900627|91.24%
View combined sample_72.variant33 8 rs199873615
dbSNP Clinvar
12285250 237.6 G A DRAGENHardSNP 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.10324 0.10320 0.03 0.01 None None None None None None FAM86B2|0.001900627|91.24%
View combined sample_72.variant33 8 rs6531034
dbSNP Clinvar
12285161 377.8 T C DRAGENHardSNP 0/1 22 None None None 0.70667 0.70670 None None None None None None FAM86B2|0.001900627|91.24%
View combined sample_72.variant33 8 rs2698898
dbSNP Clinvar
12285103 151.77 C T DRAGENHardSNP 0/1 6 None None None 0.09 None None None None None None FAM86B2|0.001900627|91.24%