SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:
A4GALT, AC002472.13, AC006547.14, AC006946.15, AC008132.13, ACO2, ACR, ADM2, AIFM3, AP000350.4, AP1B1, APOBEC3B, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, BAIAP2L2, BCL2L13, BCR, BPIFC, C1QTNF6, C22orf15, C22orf23, C22orf26, C22orf31, C22orf34, C22orf42, C22orf46, CABIN1, CACNA1I, CARD10, CBY1, CCDC116, CCDC157, CCT8L2, CDC42EP1, CECR1, CECR5, CECR6, CELSR1, CENPM, CERK, CHCHD10, CLTCL1, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CTA-299D3.8, CYP2D6, CYP2D7P, CYTH4, DENND6B, DEPDC5, DERL3, DGCR6L, DNAL4, EFCAB6, EIF4ENIF1, ELFN2, EMID1, EP300, FAM118A, FAM19A5, FAM211B, FAM230A, FAM83F, FBLN1, FBXO7, FLJ27365, FOXRED2, GAB4, GALR3, GAS2L1, GCAT, GGT1, GGT2, GGTLC2, GRAMD4, GTSE1, HDAC10, HIC2, HMGXB4, HPS4, IFT27, IGLC3, IGLJ2, IGLJ3, IGLJ5, IGLJ7, IGLL1, IGLV1-47, IGLV1-50, IGLV10-54, IGLV2-14, IGLV2-18, IGLV2-23, IGLV3-12, IGLV3-16, IGLV3-21, IGLV3-22, IGLV3-25, IGLV4-60, IGLV5-37, IGLV5-45, IGLV5-48, IGLV6-57, IGLV7-46, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1644, KIAA1671, KLHDC7B, L3MBTL2, LIMK2, LL22NC03-75H12.2, LMF2, LRP5L, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MED15, MEI1, MGAT3, MICAL3, MIEF1, MKL1, MMP11, MOV10L1, MTFP1, MTMR3, MYH9, MYO18B, NAGA, NCF4, NEFH, NIPSNAP1, NPTXR, OR11H1, OSBP2, P2RX6, PACSIN2, PANX2, PARVG, PATZ1, PHF21B, PI4KA, PIK3IP1, PIM3, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PNPLA3, PNPLA5, POM121L7, PPIL2, PPM1F, PPP6R2, PRAME, PRODH, PRR5, RAB36, RANGAP1, RBFOX2, RFPL1, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RNF215, RPL3, RRP7A, RTCB, RTDR1, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SEC14L2, SEC14L3, SEC14L6, SERPIND1, SEZ6L, SFI1, SHANK3, SLC16A8, SLC2A11, SLC35E4, SLC5A1, SLC7A4, SMARCB1, SMC1B, SMTN, SNAP29, SNRPD3, SOX10, SPECC1L, SRRD, SUN2, SUSD2, TBC1D22A, TBX1, TCF20, TCN2, TEX33, TFIP11, THAP7, THOC5, TMPRSS6, TNRC6B, TOB2, TOM1, TOP3B, TPST2, TRABD, TRIOBP, TRMT2A, TSPO, TST, TTC28, TTC38, TTLL1, TTLL12, TTLL8, TUBA8, TUBGCP6, TXNRD2, TYMP, UPK3A, USP18, USP41, WBP2NL, XKR3, XPNPEP3, YDJC, ZBED4, ZDHHC8, ZNF280A, ZNF280B, ZNRF3,

Genes at Omim

A4GALT, ACO2, ACR, APOL1, APOL2, APOL4, ARSA, BCR, CHCHD10, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYP2D6, DEPDC5, DNAL4, EP300, FBLN1, FBXO7, GGT1, GGT2, HPS4, IFT27, IGLL1, IL17RA, KCTD17, MCM5, MKL1, MYH9, MYO18B, NAGA, NCF4, NEFH, PI4KA, PLA2G6, PRODH, SBF1, SCARF2, SCO2, SHANK3, SLC5A1, SMARCB1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TMPRSS6, TRIOBP, TUBA8, TUBGCP6, TXNRD2, TYMP, USP18, XPNPEP3,
A4GALT NOR polyagglutination syndrome, 111400 (3)
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)
[Blood group, P1Pk system, p phenotype], 111400 (3)
ACO2 Infantile cerebellar-retinal degeneration, 614559 (3)
?Optic atrophy 9, 616289 (3)
ACR ?Male infertility due to acrosin deficiency (2)
APOL1 {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
{End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
APOL2 {Schizophrenia}, 181500 (1)
APOL4 {Schizophrenia}, 181500 (1)
ARSA Metachromatic leukodystrophy, 250100 (3)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
CHCHD10 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3)
?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3)
Spinal muscular atrophy, Jokela type, 615048 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4 Cataract 23, 610425 (3)
CRYBB2 Cataract 3, multiple types, 601547 (3)
CRYBB3 Cataract 22, 609741 (3)
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (3)
DNAL4 ?Mirror movements 3, 616059 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
FBXO7 Parkinson disease 15, autosomal recessive, 260300 (3)
GGT1 ?Glutathioninuria, 231950 (3)
GGT2 [Gamma-glutamyltransferase, familial high serum] (2)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
IFT27 ?Bardet-Biedl syndrome 19, 615996 (3)
IGLL1 Agammaglobulinemia 2, 613500 (3)
IL17RA Immunodeficiency 51, 613953 (3)
KCTD17 Dystonia 26, myoclonic, 616398 (3)
MCM5 ?Meier-Gorlin syndrome 8, 617564 (3)
MKL1 Megakaryoblastic leukemia, acute (3)
MYH9 Deafness, autosomal dominant 17, 603622 (3)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
NAGA Kanzaki disease, 609242 (3)
Schindler disease, type I, 609241 (3)
Schindler disease, type III, 609241 (3)
NCF4 ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PLA2G6 Infantile neuroaxonal dystrophy 1, 256600 (3)
Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Parkinson disease 14, autosomal recessive, 612953 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
SBF1 Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Myopia 6, 608908 (3)
SHANK3 {Schizophrenia 15}, 613950 (3)
Phelan-McDermid syndrome, 606232 (3)
SLC5A1 Glucose/galactose malabsorption, 606824 (3)
SMARCB1 Coffin-Siris syndrome 3, 614608 (3)
{Rhabdoid tumor predisposition syndrome 1}, 609322 (3)
{Schwannomatosis-1, susceptibility to}, 162091 (3)
Rhabdoid tumors, somatic, 609322 (3)
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SOX10 PCWH syndrome, 609136 (3)
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
Waardenburg syndrome, type 4C, 613266 (3)
SPECC1L Hypertelorism, Teebi type, 145420 (3)
?Facial clefting, oblique, 1, 600251 (3)
Opitz GBBB syndrome, type II, 145410 (3)
TBX1 Conotruncal anomaly face syndrome, 217095 (3)
DiGeorge syndrome, 188400 (3)
Tetralogy of Fallot, 187500 (3)
Velocardiofacial syndrome, 192430 (3)
TCN2 Transcobalamin II deficiency, 275350 (3)
TMPRSS6 Iron-refractory iron deficiency anemia, 206200 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TUBA8 Cortical dysplasia, complex, with other brain malformations 8, 613180 (3)
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TXNRD2 ?Glucocorticoid deficiency 5, 617825 (3)
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
USP18 Pseudo-TORCH syndrome 2, 617397 (3)
XPNPEP3 Nephronophthisis-like nephropathy 1, 613159 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ARSA, BCR, CECR1, CHCHD10, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYP2D6, DEPDC5, DNAL4, EP300, FBLN1, FBXO7, HPS4, IFT27, IGLL1, IL17RA, KCTD17, MYH9, MYO18B, NAGA, NCF4, NEFH, PI4KA, PLA2G6, PRODH, SBF1, SCARF2, SCO2, SERPIND1, SHANK3, SLC5A1, SMARCB1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TMPRSS6, TRIOBP, TUBA8, TUBGCP6, TYMP, UPK3A, XPNPEP3,
A4GALT Blood group, P system
ACO2 Infantile cerebellar-retinal degeneration
Optic atrophy 9
ARSA Metachromatic leukodystrophy
BCR CML treatment, response to
CECR1 Polyarteritis nodosa, childhood-onset (ADA2 deficiency)
Sneddon syndrome
CHCHD10 Myopathy, isolated mitochondrial, autosomal dominant
COMT Medication response, association with
CRYBA4 Cataract 23
CRYBB2 Cataract, sutural, with punctate and cerulean opacities
Cataract, Coppock-like
Cataract, congenital, cerulean type, 2
CRYBB3 Cataract, congenital nuclear, autosomal recessive, 2
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5
CYP2D6 Drug metabolism, CYP2CD6-related
DEPDC5 Epilepsy, familial focal, with variable foci
DNAL4 Mirror movements 3
EP300 Rubinstein-Taybi syndrome 2
FBLN1 Synpolydactyly 2
FBXO7 Parkinson disease 15, autosomal recessive
HPS4 Hermansky-Pudlak syndrome 4
IFT27 Bardet Biedl syndrome 19
IGLL1 Agammaglobulinemia 2
IL17RA Candiasis, familial, 5
KCTD17 Dystonia 26, myoclonic
MYH9 Sebastian syndrome
May-Hegglin anomaly
Fechtner syndrome
Epstein syndrome
Macrothrombocytopenia and progressive sensorineural deafness
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
NAGA Kanzaki disease
Alpha-n-acetylgalactosaminidase deficiency
Schindler disease type I
Schindler disease type III
NCF4 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
PI4KA Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
PLA2G6 Parkinson disease 14, autosomal recessive
Neurodegeneration with brain iron accumulation 2A
Neurodegeneration with brain iron accumulation 2B
PRODH Hyperprolinemia, type I
SBF1 Charcot-Marie-Tooth disease, type 4B3
SCARF2 Van den Ende-Gupta syndrome
SCO2 Myopia 6
Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Hypertrophic cardiomyopathy
SERPIND1 Heparin cofactor II deficiency
SHANK3 Phelan-McDermid syndrome
Schizophrenia
SLC5A1 Glucose/galactose malabsorption
SMARCB1 Schwannomatosis
Rhabdoid tumor predisposition syndrome
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SOX10 Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Hirschsprung disease, susceptibility to, 10
SPECC1L Facial clefting, oblique, 1
Opitz GBBB syndrome, type II
TBX1 Conotruncal anomaly face syndrome
Tetralogy of Fallot
TCN2 Transcobalamin II deficiency
TMPRSS6 Iron-refractory iron deficiency anemia
TRIOBP Deafness, autosomal recessive 28
TUBA8 Polymicrogyria with optic nerve hypoplasia
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive 1
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UPK3A Renal/urogenital adysplasia
XPNPEP3 Nephronophthisis-like nephropathy 1

Genes at HGMD

Summary

Number of Variants: 3836
Number of Genes: 268

Export to: CSV
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_66.variant27 22 rs999924356
dbSNP Clinvar
39080808 842.16 ATTT A,... PASS 0/2 80 None None None None None None None None None TOMM22|0.341303992|24.76%
View combined sample_66.variant27 22 rs999458
dbSNP Clinvar
29932438 86.5 C A PASS 0/1 8 None None None 0.21546 0.21550 None None None None None None THOC5|0.438186947|18.76%
View combined sample_66.variant27 22 rs9983
dbSNP Clinvar
30423744 2185.63 G A PASS 1/1 163 None None None 0.16134 0.16130 None None None None None None MTMR3|0.197019046|37.04%
View combined sample_66.variant27 22 rs9967
dbSNP Clinvar
18211205 657.28 T C PASS 0/1 21 None None None 0.54193 0.54190 None None None None None None BCL2L13|0.039355581|65.99%
View combined sample_66.variant27 22 rs993256938
dbSNP Clinvar
37099283 1597.02 AGCG AG... PASS 0/1 56 None None None None None None None None None CACNG2|0.535579838|14.39%
View combined sample_66.variant27 22 rs9835
dbSNP Clinvar
39130971 465.27 A G PASS 1/1 54 None None None 0.43630 0.43630 None None None None None None GTPBP1|0.222113771|34.19%,SUN2|0.042178955|65.03%
View combined sample_66.variant27 22 rs9798725
dbSNP Clinvar
37621269 7419.14 A C PASS 1/1 189 None None None 0.74661 0.74660 None None None None None None None

FBXO7

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_66.variant27 22 rs9726
dbSNP Clinvar
32887150 1733.46 C T PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.48762 0.48760 0.37221 None None None None None None FBXO7|0.186130315|38.24%
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_66.variant27 22 rs9723264
dbSNP Clinvar
46318479 1877.38 A G PASS 0/1 49 None None None 0.41274 0.41270 None None None None None None WNT7B|0.481657752|16.68%
View combined sample_66.variant27 22 rs9704
dbSNP Clinvar
24936970 7688.9 A G PASS 1/1 212 None None None 0.66813 0.66810 None None None None None None GUCD1|0.152446985|42.6%
View combined sample_66.variant27 22 rs968425
dbSNP Clinvar
26879823 854.28 C A PASS 1/1 73 None None None 0.78954 0.78950 None None None None None None None

FBLN1

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_66.variant27 22 rs9682
dbSNP Clinvar
45937149 6449.28 C T PASS 0/1 253 SYNONYMOUS_CODING LOW None 0.26218 0.26220 0.36076 None None None None None None FBLN1|0.107064259|49.78%
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_66.variant27 22 rs9680823
dbSNP Clinvar
32790981 509.26 C G PASS 0/1 16 None None None 0.10883 0.10880 0.11833 None None None None None None RTCB|0.649946621|10.12%
View combined sample_66.variant27 22 rs9680647
dbSNP Clinvar
16914164 305.95 G A PASS 0/1 34 None None None None None None None None None None
View combined sample_66.variant27 22 rs9680615
dbSNP Clinvar
19770886 1019.32 G A PASS 0/1 116 None None None 0.07648 0.07648 None None None None None None TBX1|0.837458407|4.92%,GNB1L|0.113554867|48.57%
View combined sample_66.variant27 22 rs965764
dbSNP Clinvar
22848528 111.22 A G PASS 1/1 13 None None None 0.82947 0.82950 None None None None None None ZNF280B|0.016216006|76.32%
View combined sample_66.variant27 22 rs964367299
dbSNP Clinvar
39382503 337.81 T C PASS 0/1 77 None None None None None None None None None APOBEC3B|0.000325736|99.32%

TTLL8

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_66.variant27 22 rs9628315
dbSNP Clinvar
50480108 1261.38 C T PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.40236 0.40240 0.46381 0.86 0.05 None None None None None None TTLL8|0.003305511|88.08%
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_66.variant27 22 rs9627391
dbSNP Clinvar
46447097 2741.63 C T PASS 0/1 101 None None None 0.28335 0.28330 None None None None None None PRR34|0.005256107|85.48%
View combined sample_66.variant27 22 rs9627386
dbSNP Clinvar
46446563 2647.1 G A PASS 0/1 67 None None None 0.21945 0.21940 None None None None None None PRR34|0.005256107|85.48%
View combined sample_66.variant27 22 rs9626515
dbSNP Clinvar
45075871 94.73 C T PASS 1/1 7 None None None 0.12939 0.12940 None None None None None None PRR5|0.038142723|66.4%
View combined sample_66.variant27 22 rs9626514
dbSNP Clinvar
45075854 94.73 G A PASS 1/1 9 None None None 0.12939 0.12940 None None None None None None PRR5|0.038142723|66.4%
View combined sample_66.variant27 22 rs9626232
dbSNP Clinvar
45075876 91.72 G A PASS 1/1 7 None None None None None None None None None PRR5|0.038142723|66.4%
View combined sample_66.variant27 22 rs9625949
dbSNP Clinvar
44236039 71.69 G A PASS 0/1 18 None None None 0.22424 0.22420 None None None None None None SULT4A1|0.651926857|10.03%
View combined sample_66.variant27 22 rs9625872
dbSNP Clinvar
21576048 449.36 C T PASS 0/1 148 None None None None None None None None None GGT2|0.01587411|76.55%

IGLV3-22

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_66.variant27 22 rs9623875
dbSNP Clinvar
23047290 681.93 G A PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.33067 0.33070 0.27356 0.01 0.34 None None None None None None None
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_66.variant27 22 rs9623837
dbSNP Clinvar
43830845 885.86 G C PASS 0/1 47 None None None 0.08486 0.08486 None None None None None None MPPED1|0.126701299|46.38%
View combined sample_66.variant27 22 rs9623782
dbSNP Clinvar
43614223 1345.17 C G PASS 0/1 40 None None None 0.37879 0.37880 0.26273 None None None None None None SCUBE1|0.084699496|54.28%
View combined sample_66.variant27 22 rs9623660
dbSNP Clinvar
43090534 37.72 A T PASS 0/1 9 None None None 0.10144 0.10140 None None None None None None A4GALT|0.02220674|73.08%
View combined sample_66.variant27 22 rs9623095
dbSNP Clinvar
22578408 90.76 C T PASS 1/1 4 None None None 0.42712 0.42710 None None None None None None None
View combined sample_66.variant27 22 rs9623052
dbSNP Clinvar
22550339 7879.41 G C PASS 1/1 276 None None None 0.69748 0.69750 0.34786 None None None None None None None
View combined sample_66.variant27 22 rs9622746
dbSNP Clinvar
38564041 1852.06 C G PASS 0/1 166 None None None 0.29513 0.29510 None None None None None None PLA2G6|0.209948636|35.59%
View combined sample_66.variant27 22 rs9622726
dbSNP Clinvar
38506688 557.39 T C PASS 0/1 54 None None None 0.31330 0.31330 None None None None None None None
View combined sample_66.variant27 22 rs9622125
dbSNP Clinvar
35484455 2149.97 C T PASS 0/1 164 None None None 0.22424 0.22420 None None None None None None None

RFPL3

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_66.variant27 22 rs9621427
dbSNP Clinvar
32754386 2260.78 C A PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.10443 0.10440 0.10011 0.03 0.99 None None None None None None RFPL3|0.001152631|94.71%

TCN2

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_66.variant27 22 rs9621049
dbSNP Clinvar
31013419 1388.27 C T PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.10863 0.10860 0.12717 0.24 0.01 None None None None None None TCN2|0.038200441|66.38%

SCUBE1

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_66.variant27 22 rs9620123
dbSNP Clinvar
43614316 4811.77 C G PASS 0/1 162 SYNONYMOUS_CODING LOW None 0.38079 0.38080 0.26503 None None None None None None SCUBE1|0.084699496|54.28%
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_66.variant27 22 rs9619753
dbSNP Clinvar
20791821 371.85 G A PASS 0/1 59 None None None 0.33187 0.33190 0.23544 None None None None None None SCARF2|0.028538046|70.17%,KLHL22|0.162608612|41.2%
View combined sample_66.variant27 22 rs9619254
dbSNP Clinvar
32627264 74.99 T C PASS 0/1 13 None None None 0.13119 0.13120 None None None None None None SLC5A4|0.026925031|70.94%
View combined sample_66.variant27 22 rs9619104
dbSNP Clinvar
30774340 410.54 A G PASS 1/1 15 None None None 0.91214 0.91210 None None None None None None CCDC157|0.031379719|68.85%,RNF215|0.035503512|67.31%
View combined sample_66.variant27 22 rs9619005
dbSNP Clinvar
17669406 431.68 G C PASS 1/1 35 None None None 0.56310 0.56310 None None None None None None CECR1|0.005555604|85.15%
View combined sample_66.variant27 22 rs9618895
dbSNP Clinvar
17302509 2310.07 C T PASS 0/1 134 None None None 0.20527 0.20530 None None None None None None XKR3|0.000941139|95.84%
View combined sample_66.variant27 22 rs9618586
dbSNP Clinvar
19486600 616.39 C T PASS 0/1 106 None None None 0.40236 0.40240 0.34277 None None None None None None CDC45|0.703453878|8.4%
View combined sample_66.variant27 22 rs9617589
dbSNP Clinvar
17978311 938.82 A G PASS 1/1 34 None None None 0.61042 0.61040 None None None None None None CECR2|0.038569705|66.27%
View combined sample_66.variant27 22 rs9617472
dbSNP Clinvar
49042294 590.3 C T PASS 0/1 31 None None None 0.46106 0.46110 None None None None None None FAM19A5|0.05030516|62.56%
View combined sample_66.variant27 22 rs9617137
dbSNP Clinvar
50479856 478.1 A C PASS 0/1 15 None None None 0.44888 0.44890 None None None None None None TTLL8|0.003305511|88.08%

IL17REL

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_66.variant27 22 rs9617090
dbSNP Clinvar
50439194 561.14 C T PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.26518 0.26520 0.33816 0.54 0.00 None None None None None None IL17REL|0.002683079|89.29%
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_66.variant27 22 rs9617050
dbSNP Clinvar
50708731 1134.29 A G PASS 0/1 106 None None None 0.45387 0.45390 None None None None None None MAPK11|0.032389401|68.42%
View combined sample_66.variant27 22 rs9617014
dbSNP Clinvar
50901259 3483.72 G T,C,A PASS 0/1 112 None None None 0.00339 0.00340 0.44766 None None None None None None SBF1|0.055734272|61.01%
View combined sample_66.variant27 22 rs9616998
dbSNP Clinvar
50860495 707.04 A G PASS 0/1 22 None None None 0.46106 0.46110 None None None None None None PPP6R2|0.017361961|75.63%

SHANK3

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_66.variant27 22 rs9616915
dbSNP Clinvar
51117580 3377.85 T C PASS 0/1 341 NON_SYNONYMOUS_CODING MODERATE None 0.34325 0.34330 0.47998 0.00 None None None None None None SHANK3|0.05921282|60.1%
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_66.variant27 22 rs9616914
dbSNP Clinvar
51117137 3205.38 G A PASS 0/1 280 None None None 0.25100 0.25100 0.37176 None None None None None None SHANK3|0.05921282|60.1%
View combined sample_66.variant27 22 rs9616878
dbSNP Clinvar
51040134 937.74 C G PASS 0/1 31 None None None 0.07768 0.07768 None None None None None None MAPK8IP2|0.058785144|60.2%
View combined sample_66.variant27 22 rs9616852
dbSNP Clinvar
50906917 3676.41 C A PASS 0/1 113 None None None 0.25899 0.25900 0.37973 None None None None None None SBF1|0.055734272|61.01%
View combined sample_66.variant27 22 rs9616844
dbSNP Clinvar
50860565 1671.01 G A PASS 0/1 63 None None None 0.46106 0.46110 None None None None None None PPP6R2|0.017361961|75.63%
View combined sample_66.variant27 22 rs9616818
dbSNP Clinvar
51135545 1456.38 T C PASS 0/1 62 None None None 0.73223 0.73220 None None None None None None SHANK3|0.05921282|60.1%
View combined sample_66.variant27 22 rs9616714
dbSNP Clinvar
50050859 1995.24 G A PASS 0/1 140 None None None 0.42792 0.42790 None None None None None None C22orf34|0.000859985|96.29%
View combined sample_66.variant27 22 rs9616543
dbSNP Clinvar
49667912 392.86 C T PASS 0/1 13 None None None 0.27576 0.27580 None None None None None None None
View combined sample_66.variant27 22 rs9616333
dbSNP Clinvar
50050847 1895.92 G A PASS 0/1 135 START_GAINED LOW None 0.44229 0.44230 None None None None None None C22orf34|0.000859985|96.29%
View combined sample_66.variant27 22 rs9616151
dbSNP Clinvar
47311934 343.58 C T PASS 0/1 17 None None None 0.03295 0.03295 None None None None None None TBC1D22A|0.06804196|57.91%
View combined sample_66.variant27 22 rs9616147
dbSNP Clinvar
46508094 1153.58 G A PASS 1/1 61 None None None 0.36841 0.36840 None None None None None None None
View combined sample_66.variant27 22 rs9616146
dbSNP Clinvar
46508050 1159.74 A G PASS 1/1 63 None None None 0.39097 0.39100 None None None None None None None
View combined sample_66.variant27 22 rs9616145
dbSNP Clinvar
46508010 1467.07 G A PASS 1/1 63 None None None 0.39237 0.39240 None None None None None None None
View combined sample_66.variant27 22 rs9616144
dbSNP Clinvar
46507936 1673.37 A C PASS 1/1 92 None None None 0.36062 0.36060 None None None None None None None
View combined sample_66.variant27 22 rs9616142
dbSNP Clinvar
46507633 768.53 G A PASS 0/1 91 None None None 0.09465 0.09465 None None None None None None None

FLJ27365

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_66.variant27 22 rs9616125
dbSNP Clinvar
46499120 1725.98 G C PASS 1/1 77 SYNONYMOUS_CODING LOW None 0.24221 0.24220 None None None None None None None
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_66.variant27 22 rs9616088
dbSNP Clinvar
47064665 639.47 C T PASS 0/1 91 None None None 0.28574 0.28570 0.29486 None None None None None None GRAMD4|0.047790528|63.4%

CTA-299D3.8

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_66.variant27 22 rs9615919
dbSNP Clinvar
48940644 592.86 C T PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.43550 0.43550 None None None None None None FAM19A5|0.05030516|62.56%
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_66.variant27 22 rs9615417
dbSNP Clinvar
46506497 2391.59 C G PASS 1/1 132 None None None 0.34744 0.34740 None None None None None None None
View combined sample_66.variant27 22 rs9615416
dbSNP Clinvar
46506409 770.14 G A PASS 1/1 82 None None None 0.20028 0.20030 None None None None None None None
View combined sample_66.variant27 22 rs9615403
dbSNP Clinvar
46486786 1833.95 C T PASS 0/1 74 None None None 0.11841 0.11840 None None None None None None None

CELSR1

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_66.variant27 22 rs9615351
dbSNP Clinvar
46760481 1915.37 C G PASS 0/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.24022 0.24020 0.33716 0.23 0.07 None None None None None None CELSR1|0.033878373|67.81%
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_66.variant27 22 rs9615056
dbSNP Clinvar
45577537 657.27 C A PASS 0/1 16 None None None 0.41534 0.41530 None None None None None None NUP50|0.088425037|53.55%

SMC1B

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_66.variant27 22 rs9614653
dbSNP Clinvar
45767391 580.39 C T PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.17712 0.17710 0.09003 0.06 0.02 None None None None None None SMC1B|0.167750136|40.59%
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_66.variant27 22 rs9614486
dbSNP Clinvar
45898592 193.54 G C PASS 0/1 17 None None None 0.59884 0.59880 None None None None None None FBLN1|0.107064259|49.78%
View combined sample_66.variant27 22 rs9614042
dbSNP Clinvar
30124968 521.16 C T PASS 1/1 29 None None None 0.39637 0.39640 None None None None None None CABP7|0.200998621|36.64%
View combined sample_66.variant27 22 rs9613942
dbSNP Clinvar
29935704 220.7 G A PASS 0/1 5 None None None 0.22384 0.22380 None None None None None None THOC5|0.438186947|18.76%
View combined sample_66.variant27 22 rs9613785
dbSNP Clinvar
29439201 1798.25 G A PASS 0/1 75 None None None 0.41254 0.41250 None None None None None None ZNRF3|0.247803411|31.75%
View combined sample_66.variant27 22 rs9613784
dbSNP Clinvar
29439036 286.77 T C PASS 0/1 6 None None None 0.47704 0.47700 None None None None None None ZNRF3|0.247803411|31.75%

TTC28

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_66.variant27 22 rs9613558
dbSNP Clinvar
28378688 2183.96 C G PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.04034 0.04034 0.04358 0.00 1.00 None None None None None None TTC28|0.439812239|18.66%
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_66.variant27 22 rs9613355
dbSNP Clinvar
27445883 103.59 C T PASS 0/1 38 None None None 0.19709 0.19710 None None None None None None None
View combined sample_66.variant27 22 rs9613258
dbSNP Clinvar
27113697 1843.55 A G PASS 1/1 81 None None None 0.23363 0.23360 None None None None None None None
View combined sample_66.variant27 22 rs9613187
dbSNP Clinvar
26875370 2254.17 C T PASS 0/1 81 None None None 0.02596 0.02596 0.06660 None None None None None None HPS4|0.002818856|89%
View combined sample_66.variant27 22 rs9612756
dbSNP Clinvar
25156134 147.82 A C PASS 1/1 36 None None None 0.43251 0.43250 None None None None None None PIWIL3|0.00067048|97.43%
View combined sample_66.variant27 22 rs9612656
dbSNP Clinvar
24951296 157.45 T C PASS 1/1 26 None None None 0.93690 0.93690 None None None None None None GUCD1|0.152446985|42.6%
View combined sample_66.variant27 22 rs9612528
dbSNP Clinvar
24314258 582.43 G A PASS 0/1 82 None None None 0.04093 0.04093 None None None None None None DDTL|0.002634907|89.41%,DDT|0.007510231|83.04%

SLC2A11

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_66.variant27 22 rs9612499
dbSNP Clinvar
24224659 798.32 C A PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.34365 0.34370 0.31369 None None None None None None SLC2A11|0.006726547|83.8%
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_66.variant27 22 rs9612485
dbSNP Clinvar
24179502 452.58 G A PASS 0/1 33 None None None 0.26178 0.26180 None None None None None None DERL3|0.060458849|59.74%
View combined sample_66.variant27 22 rs9612268
dbSNP Clinvar
23610878 282.52 G A PASS 0/1 17 None None None 0.14537 0.14540 None None None None None None BCR|0.805888971|5.65%
View combined sample_66.variant27 22 rs9612253
dbSNP Clinvar
23503008 562.04 T C PASS 1/1 48 None None None 0.55571 0.55570 None None None None None None RAB36|0.022182246|73.09%
View combined sample_66.variant27 22 rs9612252
dbSNP Clinvar
23502987 380.03 A G PASS 1/1 35 None None None 0.55531 0.55530 None None None None None None RAB36|0.022182246|73.09%
View combined sample_66.variant27 22 rs9612248
dbSNP Clinvar
23492236 75.22 C T PASS 0/1 59 None None None 0.45387 0.45390 0.38114 None None None None None None RAB36|0.022182246|73.09%
View combined sample_66.variant27 22 rs9612240
dbSNP Clinvar
23478695 1311.72 C T PASS 0/1 88 None None None 0.22564 0.22560 None None None None None None RSPH14|0.01273033|78.69%

GGTLC2

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_66.variant27 22 rs9612135
dbSNP Clinvar
22988911 96.41 G A PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.36881 0.36880 None None None None None None GGTLC2|0.001422888|93.22%
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_66.variant27 22 rs9611811
dbSNP Clinvar
42910376 372.65 G A PASS 0/1 56 None None None 0.24062 0.24060 None None None None None None RRP7A|0.013410864|78.23%
View combined sample_66.variant27 22 rs9611597
dbSNP Clinvar
41864190 1092.64 A T PASS 0/1 74 None None None 0.05471 0.05471 0.11126 None None None None None None PHF5A|0.668496791|9.42%
View combined sample_66.variant27 22 rs9611592
dbSNP Clinvar
22723864 333.09 G A PASS 0/1 69 None None None 0.44269 0.44270 None None None None None None None
View combined sample_66.variant27 22 rs9611576
dbSNP Clinvar
41793032 1028.82 C A PASS 1/1 87 None None None 0.33427 0.33430 None None None None None None TEF|0.892141747|3.62%
View combined sample_66.variant27 22 rs9611143
dbSNP Clinvar
39709030 1275.36 G A PASS 0/1 120 None None None 0.00300 0.00300 0.00554 None None None None None None RPL3|0.241152701|32.34%
View combined sample_66.variant27 22 rs9611033
dbSNP Clinvar
39224123 415.76 G A PASS 0/1 47 None None None 0.18111 0.18110 None None None None None None NPTXR|0.286215395|28.64%