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EXCLUDE VARIANTS AT VARISNP
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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

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 at Omim

AK2, AQP7, COMT, CYP2D6, DIAPH1, FCGR3B, GJC2, HLA-DRB1, IFITM3, IRS1, KMT2C, KRT6B, KRT6C, KRT8, KRT86, LRP2, MFF, MYO5B, NDUFA9, OTOA, PRSS1, PTPN14, RBMX, RLIM, ROBO2, SORD, STAG3, ZNF141,
AK2 Reticular dysgenesis, 267500 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DIAPH1 Deafness, autosomal dominant 1, 124900 (3)
Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
FCGR3B Neutropenia, alloimmune neonatal (3)
GJC2 Leukodystrophy, hypomyelinating, 2, 608804 (3)
Lymphatic malformation 3, 613480 (3)
Spastic paraplegia 44, autosomal recessive, 613206 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
IFITM3 {Influenza, severe, susceptibility to}, 614680 (3)
IRS1 {Coronary artery disease, susceptibility to} (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
KRT6B Pachyonychia congenita 4, 615728 (3)
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3)
KRT8 {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
Cirrhosis, cryptogenic, 215600 (3)
KRT86 Monilethrix, 158000 (3)
LRP2 Donnai-Barrow syndrome, 222448 (3)
MFF Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NDUFA9 Mitochondrial complex I deficiency, nuclear type 26, 618247 (3)
OTOA Deafness, autosomal recessive 22, 607039 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
PTPN14 Choanal atresia and lymphedema, 613611 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RLIM Tonne-Kalscheuer syndrome, 300978 (3)
ROBO2 Vesicoureteral reflux 2, 610878 (3)
SORD ?Cataract, congenital (2)
STAG3 Premature ovarian failure 8, 615723 (3)
ZNF141 ?Polydactyly, postaxial, type A6, 615226 (3)

Genes at Clinical Genomics Database

AK2, BLM, COMT, CYP2D6, DIAPH1, GJC2, KRT6B, KRT6C, KRT86, LRP2, MYO5B, NDUFA9, OTOA, PRSS1, PTPN14, RBMX, ROBO2, STAG3, ZNF141,
AK2 Reticular dysgenesis
BLM Bloom syndrome
COMT Medication response, association with
CYP2D6 Drug metabolism, CYP2CD6-related
DIAPH1 Deafness, autosomal dominant 1
GJC2 Lymphedema, hereditary, IC
Spastic paraplegia 44, autosomal recessive
Leukodystrophy, hypomyelinating, 2
KRT6B Pachyonychia congenita 4
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
KRT86 Monilethrix
LRP2 Donnai-Barrow syndrome
Faciooculoacousticorenal syndrome
MYO5B Diarrhea 2, with microvillus atrophy
NDUFA9 Mitochondrial complex I deficiency
Leigh syndrome
OTOA Deafness, autosomal recessive 22
PRSS1 Pancreatitis, hereditary
PTPN14 Choanal atresia and lymphedema
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
ROBO2 Congenital anomalies of the kidney and urinary tract
STAG3 Premature ovarian failure 8
ZNF141 Postaxial polydactyly type A, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 2246
Number of Genes: 170

Export to: CSV

AHNAK2

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 wes_0001 hg19 bwa gatk freebayes combined 14 rs141406015
dbSNP Clinvar
105416223 143.77 G A LowQD 0/1 0 SYNONYMOUS_CODING LOW None 0.03954 0.03954 None None None None None None AHNAK2|0.000253171|99.62%

AK2

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 wes_0001 hg19 bwa gatk freebayes combined 1 rs779366586
dbSNP Clinvar
33478878 116.77 G A LowQD 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None AK2|0.52008847|15.01%
View wes_0001 hg19 bwa gatk freebayes combined 1 rs746330303
dbSNP Clinvar
33478872 146.77 G A LowQD 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None AK2|0.52008847|15.01%
View wes_0001 hg19 bwa gatk freebayes combined 1 rs202182972
dbSNP Clinvar
33478888 147.77 C T LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.91 None None None None None None AK2|0.52008847|15.01%

AK9

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 wes_0001 hg19 bwa gatk freebayes combined 6 rs577355457
dbSNP Clinvar
109850200 153.73 AC A LowQD 0/1 0 None None None 0.13239 0.13240 None None None None None None AK9|0.032678932|68.3%

AMY1C

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 wes_0001 hg19 bwa gatk freebayes combined 1 rs769039722
dbSNP Clinvar
104297205 128.77 C T LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None AMY1C|0.005120684|85.67%

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 wes_0001 hg19 bwa gatk freebayes combined 9 rs78815814
dbSNP Clinvar
69423641 362.77 T G LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.02 None None None None None None ANKRD20A4|0.002453356|89.79%
View wes_0001 hg19 bwa gatk freebayes combined 9 rs199885239
dbSNP Clinvar
69423668 347.77 A C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.82 None None None None None None ANKRD20A4|0.002453356|89.79%

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 wes_0001 hg19 bwa gatk freebayes combined 2 rs200833680
dbSNP Clinvar
97845632 209.77 T C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.03 None None None None None None ANKRD36|0.001192347|94.46%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs75965578
dbSNP Clinvar
97845650 234.77 A G LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.00 None None None None None None ANKRD36|0.001192347|94.46%

ANKRD36C

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 wes_0001 hg19 bwa gatk freebayes combined 2 rs62156871
dbSNP Clinvar
96517882 703.77 G A LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None ANKRD36C|0.001406745|93.3%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs745741068
dbSNP Clinvar
96592970 975.73 G GAT LowQD 0/1 0 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs772059065
dbSNP Clinvar
96592974 1367.73 GTT G LowQD 0/1 0 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs75198192
dbSNP Clinvar
96525643 237.77 T C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.00 None None None None None None ANKRD36C|0.001406745|93.3%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs80159651
dbSNP Clinvar
96594858 126.77 A G LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.07 None None None None None None ANKRD36C|0.001406745|93.3%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs35461149
dbSNP Clinvar
96523194 291.77 A C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.70 None None None None None None ANKRD36C|0.001406745|93.3%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs202113195
dbSNP Clinvar
96604747 65.77 C T LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None ANKRD36C|0.001406745|93.3%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs76434426
dbSNP Clinvar
96594840 121.77 T C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.07 None None None None None None ANKRD36C|0.001406745|93.3%

AQP7

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 wes_0001 hg19 bwa gatk freebayes combined 9 rs62542744
dbSNP Clinvar
33385808 283.77 G T LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None AQP7|0.012677613|78.76%
View wes_0001 hg19 bwa gatk freebayes combined 9 rs76209395
dbSNP Clinvar
33386144 75.77 G A LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View wes_0001 hg19 bwa gatk freebayes combined 9 rs76608797
dbSNP Clinvar
33386146 75.77 C A LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.08 0.00 None None None None None None AQP7|0.012677613|78.76%

ARHGAP23

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 wes_0001 hg19 bwa gatk freebayes combined 17 rs199655106
dbSNP Clinvar
36628191 58.77 G A LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01098 0.01098 0.04 0.36 None None None None None None ARHGAP23|0.124657713|46.71%

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 wes_0001 hg19 bwa gatk freebayes combined 7 rs142197156
dbSNP Clinvar
144059838 226.77 G A LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00708 0.07 0.00 None None None None None None ARHGEF5|0.018074391|75.24%

ATXN7L1

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 wes_0001 hg19 bwa gatk freebayes combined 7 rs150182467
dbSNP Clinvar
105254801 104.73 AGAG A LowQD 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATXN7L1|0.537691769|14.3%

BCLAF1

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 wes_0001 hg19 bwa gatk freebayes combined 6 rs7381749
dbSNP Clinvar
136594292 106.77 T C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.35 0.02 None None None None None None BCLAF1|0.862204176|4.44%

BLM

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 wes_0001 hg19 bwa gatk freebayes combined 15 rs760264310
dbSNP Clinvar
91303325 85.73 CT C LowQD 0/1 0 None None None None None None None None None BLM|0.189946543|37.81%

C4orf50

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 wes_0001 hg19 bwa gatk freebayes combined 4 rs143859826
dbSNP Clinvar
5990868 502.73 CCT C LowQD 0/1 0 FRAME_SHIFT HIGH None None None None None None None C4orf50|0.000584752|98.01%

C5orf60

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 wes_0001 hg19 bwa gatk freebayes combined 5 rs766379571
dbSNP Clinvar
179072006 150.77 A G LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None C5orf60|0.001143747|94.74%

CATSPER2

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 wes_0001 hg19 bwa gatk freebayes combined 15 rs142408593
dbSNP Clinvar
43924422 117.77 T C LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None STRC|0.165616336|40.85%,CATSPER2|0.020822409|73.76%
View wes_0001 hg19 bwa gatk freebayes combined 15 rs144399798
dbSNP Clinvar
43924420 117.77 C T LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06 1.00 None None None None None None STRC|0.165616336|40.85%,CATSPER2|0.020822409|73.76%

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 wes_0001 hg19 bwa gatk freebayes combined 9 rs12380
dbSNP Clinvar
172167 232.77 C T LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None CBWD1|0.029140848|69.81%

CCDC150

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 wes_0001 hg19 bwa gatk freebayes combined 2 rs376590781
dbSNP Clinvar
197531518 11.08 CA C LowQD 0/1 0 FRAME_SHIFT HIGH None 0.10393 None None None None None None CCDC150|0.051856184|62.11%

CCDC80

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 wes_0001 hg19 bwa gatk freebayes combined 3 rs764868321
dbSNP Clinvar
112329033 71.73 G GA LowQD 0/1 0 None None None None None None None None None CCDC80|0.243088353|32.17%

CCNC

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 wes_0001 hg19 bwa gatk freebayes combined 6 rs773130517
dbSNP Clinvar
100006295 58.73 TA T LowQD 0/1 0 None None None None None None None None None CCNC|0.941035003|2.45%

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 wes_0001 hg19 bwa gatk freebayes combined 17 rs77685276
dbSNP Clinvar
45214558 179.77 G A LowQD 0/1 0 STOP_GAINED HIGH None None None None None None None CDC27|0.658499283|9.78%
View wes_0001 hg19 bwa gatk freebayes combined 17 rs11570544
dbSNP Clinvar
45214631 100.77 G A LowQD 0/1 0 SYNONYMOUS_CODING LOW None 0.01418 0.01418 None None None None None None CDC27|0.658499283|9.78%

CNN2

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 wes_0001 hg19 bwa gatk freebayes combined 19 rs78251590
dbSNP Clinvar
1037871 96.77 C A LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.00 None None None None None None CNN2|0.028130209|70.37%
View wes_0001 hg19 bwa gatk freebayes combined 19 rs76549406
dbSNP Clinvar
1037856 135.77 T C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None CNN2|0.028130209|70.37%
View wes_0001 hg19 bwa gatk freebayes combined 19 rs200699249
dbSNP Clinvar
1037681 83.77 G A LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.01 None None None None None None CNN2|0.028130209|70.37%
View wes_0001 hg19 bwa gatk freebayes combined 19 rs75014171
dbSNP Clinvar
1037869 93.77 C T LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None CNN2|0.028130209|70.37%
View wes_0001 hg19 bwa gatk freebayes combined 19 rs199840457
dbSNP Clinvar
1037670 54.77 A G LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.94 None None None None None None CNN2|0.028130209|70.37%
View wes_0001 hg19 bwa gatk freebayes combined 19 rs200505828
dbSNP Clinvar
1037679 77.77 C T LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.04 None None None None None None CNN2|0.028130209|70.37%

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 wes_0001 hg19 bwa gatk freebayes combined 9 rs1692974
dbSNP Clinvar
43849817 168.77 A G LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None CNTNAP3B|0.003821974|87.27%

COMT

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 wes_0001 hg19 bwa gatk freebayes combined 22 rs61143203,rs796882455
dbSNP Clinvar
19954916 410.73 AT A LowQD 0/1 0 None None None 0.23263 0.23260 None None None None None None COMT|0.166055932|40.8%

CTB-134H23.2

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 wes_0001 hg19 bwa gatk freebayes combined 16 rs71239957
dbSNP Clinvar
29063445 52.77 C T LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.43810 0.43810 0.05 0.03 None None None None None None None

CYP2D6

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 wes_0001 hg19 bwa gatk freebayes combined 22 rs61745683
dbSNP Clinvar
42523514 111.77 C T LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.86 0.00 None None None None None None CYP2D6|0.040319287|65.66%
View wes_0001 hg19 bwa gatk freebayes combined 22 rs61737946
dbSNP Clinvar
42523505 126.77 C T LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.24 0.07 None None None None None None CYP2D6|0.040319287|65.66%
View wes_0001 hg19 bwa gatk freebayes combined 22 rs1058172
dbSNP Clinvar
42523528 54.77 C T LowQD 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01 1.00 None None None None None None CYP2D6|0.040319287|65.66%

CYP4F31P

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 wes_0001 hg19 bwa gatk freebayes combined 2 rs111752495
dbSNP Clinvar
132044904 85.73 GTACC G LowQD 0/1 0 FRAME_SHIFT HIGH None None None None None None None PLEKHB2|0.091599144|52.9%,CYP4F31P|0.001519374|92.67%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs748234280
dbSNP Clinvar
132044903 103.77 G A LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None PLEKHB2|0.091599144|52.9%,CYP4F31P|0.001519374|92.67%

DIAPH1

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 wes_0001 hg19 bwa gatk freebayes combined 5 rs767100040
dbSNP Clinvar
140953563 10.17 TGGA T LowQD 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DIAPH1|0.460968984|17.63%

DTX2

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 wes_0001 hg19 bwa gatk freebayes combined 7 rs749972814
dbSNP Clinvar
76112183 71.77 C T LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None DTX2|0.152388002|42.62%

EPPK1

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 wes_0001 hg19 bwa gatk freebayes combined 8 rs540333192
dbSNP Clinvar
144940501 330.77 G A LowQD 0/1 0 SYNONYMOUS_CODING LOW None 0.00060 0.00060 None None None None None None EPPK1|0.004907463|85.91%
View wes_0001 hg19 bwa gatk freebayes combined 8 rs28441354
dbSNP Clinvar
144940267 350.77 G A LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None EPPK1|0.004907463|85.91%

ERVW-1

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 wes_0001 hg19 bwa gatk freebayes combined 7 rs201026415
dbSNP Clinvar
92098965 191.77 G A LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.47 0.00 None None None None None None ERVW-1|0.015639065|76.69%

EVPL

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 wes_0001 hg19 bwa gatk freebayes combined 17 rs78569674
dbSNP Clinvar
74017573 55.77 C G LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None EVPL|0.131929334|45.62%
View wes_0001 hg19 bwa gatk freebayes combined 17 rs193119748
dbSNP Clinvar
74017594 52.77 A G LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None EVPL|0.131929334|45.62%

FAM132B

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 wes_0001 hg19 bwa gatk freebayes combined 2 . 239072481 13.91 GGAC G LowQD 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None FAM132B|0.00956409|81.19%

FAM86B1

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 wes_0001 hg19 bwa gatk freebayes combined 8 rs149506508
dbSNP Clinvar
12051121 62.77 C T LowQD 0/1 0 None None None 0.82 0.00 None None None None None None FAM86B1|0.001793469|91.55%

FAM98C

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 wes_0001 hg19 bwa gatk freebayes combined 19 rs748459114
dbSNP Clinvar
38899501 31.73 CAAG C LowQD 0/1 0 CODON_DELETION MODERATE None 0.11513 None None None None None None FAM98C|0.016115397|76.41%

FBXL7

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 wes_0001 hg19 bwa gatk freebayes combined 5 . 15928467 192.73 TCA T LowQD 0/1 0 FRAME_SHIFT HIGH None None None None None None None FBXL7|0.503896302|15.66%

FCGR3B

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 wes_0001 hg19 bwa gatk freebayes combined 1 rs147574249
dbSNP Clinvar
161599643 123.77 T C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.28355 0.28350 0.10 0.00 None None None None None None FCGR3A|0.001574377|92.43%,FCGR2B|0.005666385|85.02%,FCGR3B|0.001357203|93.56%

FOXD4

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 wes_0001 hg19 bwa gatk freebayes combined 9 rs2492217
dbSNP Clinvar
117800 481.77 G T LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01697 0.01697 1.00 0.00 None None None None None None FOXD4|0.006056969|84.51%

FRG1

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 wes_0001 hg19 bwa gatk freebayes combined 4 rs113079586
dbSNP Clinvar
190876287 724.77 G A LowQD 0/1 0 STOP_GAINED HIGH None None None None None None None FRG1|0.098149242|51.5%
View wes_0001 hg19 bwa gatk freebayes combined 4 rs201142987
dbSNP Clinvar
190876293 306.77 C A LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None FRG1|0.098149242|51.5%

FRG1B

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 wes_0001 hg19 bwa gatk freebayes combined 20 rs112430454
dbSNP Clinvar
29625925 301.73 C CTTG LowQD 0/1 0 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None FRG1B|0.009509512|81.26%
View wes_0001 hg19 bwa gatk freebayes combined 20 rs143379667
dbSNP Clinvar
29632643 192.77 T C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.32 None None None None None None FRG1B|0.009509512|81.26%

FRG2B

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 wes_0001 hg19 bwa gatk freebayes combined 10 rs112001328
dbSNP Clinvar
135438888 167.77 C T LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None FRG2B|0.002165263|90.54%

GBP7

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 wes_0001 hg19 bwa gatk freebayes combined 1 rs79037912
dbSNP Clinvar
89599084 423.77 G C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.71 0.06 None None None None None None GBP2|0.003720692|87.39%,GBP7|0.002297689|90.18%

GJC2

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 wes_0001 hg19 bwa gatk freebayes combined 1 rs746050475
dbSNP Clinvar
228345912 16.82 CGAG C LowQD 0/1 0 CODON_DELETION MODERATE None None None None None None None GJC2|0.019765464|74.31%

GOLGA8A

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 wes_0001 hg19 bwa gatk freebayes combined 15 rs347877
dbSNP Clinvar
34673722 125.77 C T LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None GOLGA8A|0.001476109|92.88%

GXYLT1

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 wes_0001 hg19 bwa gatk freebayes combined 12 rs78536352
dbSNP Clinvar
42499787 222.77 G A LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None GXYLT1|0.137586291|44.77%
View wes_0001 hg19 bwa gatk freebayes combined 12 rs75241273
dbSNP Clinvar
42499826 156.77 T C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.60 0.01 None None None None None None GXYLT1|0.137586291|44.77%
View wes_0001 hg19 bwa gatk freebayes combined 12 rs76034661
dbSNP Clinvar
42499825 153.77 A C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.58 None None None None None None GXYLT1|0.137586291|44.77%
View wes_0001 hg19 bwa gatk freebayes combined 12 rs76585820
dbSNP Clinvar
42512910 217.77 T A LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None GXYLT1|0.137586291|44.77%

HLA-DRB1

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 wes_0001 hg19 bwa gatk freebayes combined 6 rs2308802
dbSNP Clinvar
32551998 95.77 G A LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None HLA-DRB1|0.032266025|68.49%
View wes_0001 hg19 bwa gatk freebayes combined 6 rs3167799
dbSNP Clinvar
32551995 92.77 A G LowQD 0/1 0 SYNONYMOUS_CODING LOW None 0.49358 None None None None None None HLA-DRB1|0.032266025|68.49%

HNRNPCL1

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 wes_0001 hg19 bwa gatk freebayes combined 1 rs41279492
dbSNP Clinvar
12908130 1016.77 C T LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00946 0.23 0.08 None None None None None None HNRNPCL1|0.00215099|90.59%
View wes_0001 hg19 bwa gatk freebayes combined 1 rs149302457
dbSNP Clinvar
12907400 898.77 G A LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.99 None None None None None None HNRNPCL1|0.00215099|90.59%
View wes_0001 hg19 bwa gatk freebayes combined 1 rs146075045
dbSNP Clinvar
12907408 248.77 T A LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None HNRNPCL1|0.00215099|90.59%
View wes_0001 hg19 bwa gatk freebayes combined 1 rs2982093
dbSNP Clinvar
12907843 337.77 T G LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None HNRNPCL1|0.00215099|90.59%
View wes_0001 hg19 bwa gatk freebayes combined 1 rs41279490
dbSNP Clinvar
12908080 1244.77 C T LowQD 0/1 0 SYNONYMOUS_CODING LOW None 0.00085 None None None None None None HNRNPCL1|0.00215099|90.59%
View wes_0001 hg19 bwa gatk freebayes combined 1 rs140567799
dbSNP Clinvar
12907848 565.77 G C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.31 None None None None None None HNRNPCL1|0.00215099|90.59%

HPR

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 wes_0001 hg19 bwa gatk freebayes combined 16 rs879092756,rs747070070
dbSNP Clinvar
72107692 67.73 CGT C LowQD 0/1 0 FRAME_SHIFT HIGH None None None None None None None TXNL4B|0.328166529|25.59%,HPR|0.003632563|87.54%

HRNR

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 wes_0001 hg19 bwa gatk freebayes combined 1 rs145667921
dbSNP Clinvar
152188847 173.77 A G LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.87 0.00 None None None None None None HRNR|0.000187528|99.8%
View wes_0001 hg19 bwa gatk freebayes combined 1 rs879592321
dbSNP Clinvar
152186614 77.77 C G LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None HRNR|0.000187528|99.8%
View wes_0001 hg19 bwa gatk freebayes combined 1 . 152187464 215.77 T C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.00 None None None None None None HRNR|0.000187528|99.8%

IFITM3

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 wes_0001 hg19 bwa gatk freebayes combined 11 rs11553885
dbSNP Clinvar
320649 149.77 G A LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None IFITM3|0.00176493|91.61%

IGHD2-15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes_0001 hg19 bwa gatk freebayes combined 14 rs782710565
dbSNP Clinvar
106363823 33.73 AGCT A LowQD 0/1 0 STOP_LOST+CODON_CHANGE_PLUS_CODON_DELETION HIGH None None None None None None None None

IGHV3-11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes_0001 hg19 bwa gatk freebayes combined 14 rs201191530
dbSNP Clinvar
106573378 51.77 T G LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00274 0.39 0.00 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined 14 rs202245780
dbSNP Clinvar
106573383 121.77 A G LowQD 0/1 0 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00399 None None None None None None None

IGHV3-48

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes_0001 hg19 bwa gatk freebayes combined 14 . 106994225 140.77 C T LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None

IGHV3-66

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes_0001 hg19 bwa gatk freebayes combined 14 rs199906835
dbSNP Clinvar
107131037 394.77 G A LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.29 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined 14 rs111398226
dbSNP Clinvar
107131034 256.77 C T LowQD 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.19 0.04 None None None None None None None

IGHV4-28

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes_0001 hg19 bwa gatk freebayes combined 14 rs200842646
dbSNP Clinvar
106780684 530.77 G T LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined 14 rs200197121
dbSNP Clinvar
106780597 1757.77 C T LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 1.00 0.00 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined 14 rs369837485
dbSNP Clinvar
106780672 885.77 T G LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None

IGHV4-31

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes_0001 hg19 bwa gatk freebayes combined 14 rs1025601392,rs142283571
dbSNP Clinvar
106805439 110.77 T C LowQD 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.05950 0.05950 0.62 0.00 None None None None None None None

IGHV4-61

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 wes_0001 hg19 bwa gatk freebayes combined 14 rs182127138
dbSNP Clinvar
107095544 256.77 G A LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined 14 rs201905956
dbSNP Clinvar
107095535 309.77 G C LowQD 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None