Family Analysis

FATHER MOTHER INHERITANCE
SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
  • Select a valid choice. 998 is not one of the available choices.
Exclude individuals:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
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

OMIM
CGD
CGD MANIFESTATION
HGMD
Name User Created on Options
mendel cednam@gmail.com Dec. 15, 2016, 4:05 p.m. EditDelete
Name User Created on Options
colangio Francieleb March 17, 2017, 5:04 p.m. EditDelete
Name User Created on Options
an120 nwaseem Oct. 5, 2017, 11:11 a.m. EditDelete
Name User Created on Options
an120 nwaseem Oct. 5, 2017, 11:11 a.m. EditDelete
Name User Created on Options
an120 nwaseem Oct. 5, 2017, 11:14 a.m. EditDelete
Name User Created on Options
an120 nwaseem Oct. 5, 2017, 11:15 a.m. EditDelete
Name User Created on Options
P+H-M caruz@ujaen.es Dec. 19, 2018, 10:09 a.m. EditDelete
Name User Created on Options
H-M_COMPLETO caruz@ujaen.es Dec. 20, 2018, 9:04 a.m. EditDelete

Example of genotype information:

0/1:0.45:10,12:22:99:211,0,262

GT:AB:AD:DP:GQ:PL

GT: Genotype

Genotype, encoded as allele values separated by either of ”/” or “|”. The allele values are 0 for the reference allele (what is in the REF field), 1 for the first allele listed in ALT, 2 for the second allele list in ALT and so on. For diploid calls examples could be 0/1, 1|0, or 1/2, etc. For haploid calls, e.g. on Y, male non-pseudoautosomal X, or mitochondrion, only one allele value should be given; a triploid call might look like 0/0/1. If a call cannot be made for a sample at a given locus, ”.” should be specified for each missing allele in the GT field (for example "./." for a diploid genotype and "." for haploid genotype). The meanings of the separators are as follows (see the PS field below for more details on incorporating phasing information into the genotypes)

AB: Allele balance for each het genotype

The allele balance (fraction of ref bases over ref + alt bases) across all bialleleic het-called samples

AD: Allelic depths for the ref and alt alleles in the order listed

The depth of coverage of each VCF allele in this sample.

DP: Read Depth (only filtered reads used for calling) GQ: Genotype Quality

Conditional genotype quality, encoded as a phred quality -10log_10p(genotype call is wrong, conditioned on the site's being variant) (Float)

PL: Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification

The phred-scaled genotype likelihoods rounded to the closest integer (and otherwise defined precisely as the GL field) (Integers)

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Genes:
ABCA8, ABCC6, ABTB2, AC019294.1, ACOXL, ACTL6B, ADAM15, ADAM21, ADCK4, AGAP6, ALDH3B1, ALOXE3, ANKRD36, AOC3, APBA2, APOE, AQPEP, ARHGEF17, ARSD, ATG13, ATM, ATP8B3, B3GNT6, BMP3, BOD1, BOK, BRCA1, BTN1A1, C1orf226, C1orf94, C20orf78, C21orf54, C5orf45, C8orf31, CABP4, CACNA1A, CAMKV, CARF, CASP10, CAST, CCDC135, CCDC73, CEP170, CHRNA9, COL20A1, COL4A1, COL9A3, COQ3, CORO1B, CRIPAK, CRYGD, CSPG4, CYP2A6, DHRS3, DNAH1, DNAH3, DNAH9, DPM1, DVL1, EBLN2, EPB41L5, EPHB3, FAM115C, FAM154B, FAM173A, FAM182B, FAM184B, FAM208B, FAM81A, FBF1, FBXO7, FITM1, FMN2, FRG2B, GOLGA6L2, GRK7, GUF1, HDAC7, HIP1, HMCN1, HRNR, HTT, IFITM1, IGFN1, IGHV1OR21-1, IGKV2D-26, IGSF10, IL4I1, IQCE, IQGAP1, IQGAP3, IRAK2, ITGAE, ITPR3, JMJD1C, KCTD20, KIAA0754, KIAA1614, KIF14, KIF1A, KMT2D, KRTAP1-3, LAMA5, LCMT2, LPL, LRP1B, MAPK13, MARVELD2, MIB2, MPPE1, MRPS2, MSH3, MTCH2, MTHFR, MTMR3, MTSS1L, MTUS1, MUC16, MUC3A, MUC6, MYEOV, NARF, NEO1, NKTR, NLRP4, NUMA1, OGDHL, OR1S1, OR2T3, OR2T34, OR4C5, OR51A2, OR52A5, OR52B1P, OR8U1, OTOGL, PCNT, PDCD11, PDE4DIP, PHGR1, PIP5KL1, PKD1, PLD6, POLL, PPIP5K1, PPL, PPP1R35, PPRC1, PROM1, PRSS1, PRSS23, PTPRCAP, PTPRH, PTPRO, PYGM, RASA2, RB1CC1, RBM4B, RELN, RIN2, RP1L1, RPTN, RSPH10B, SAMD5, SCRN2, SEC16A, SEMA4D, SETX, SHANK2, SHMT1, SHROOM3, SLC47A2, SLC6A13, SLC8A3, SLX4, SMPD4, SPEF2, STAM2, SYNM, TAS2R43, TBC1D22A, TCTE1, TENM3, TJP3, TLDC1, TRAF3IP2, TRAV12-2, TRAV19, TRAV34, TRBC2, TRBV7-6, TRGC1, TRIM29, TRIOBP, TTC34, TXNDC9, UBE2G1, UBXN11, USP42, VAV3, VPS8, VSIG10, VTI1A, XIRP2, ZFHX3, ZFP62, ZNF135, ZNF292, ZNF331, ZNF568, ZNF717, ZNF764, ZNF83, ZSCAN5B,

Genes at Omim

ABCC6, ADCK4, ALOXE3, APOE, ATM, BRCA1, CABP4, CACNA1A, CASP10, CAST, COL4A1, COL9A3, CRYGD, CYP2A6, DPM1, DVL1, FBXO7, FMN2, GUF1, HIP1, HMCN1, HTT, ITPR3, KIF14, KIF1A, KMT2D, LPL, MARVELD2, MSH3, MTHFR, NUMA1, OTOGL, PCNT, PKD1, PROM1, PRSS1, PTPRO, PYGM, RB1CC1, RELN, RIN2, RP1L1, SETX, SHANK2, SLX4, TENM3, TRAF3IP2, TRIOBP, ZFHX3,
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ADCK4 Nephrotic syndrome, type 9, 615573 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
APOE Alzheimer disease-2, 104310 (3)
Hyperlipoproteinemia, type III (3)
Lipoprotein glomerulopathy, 611771 (3)
Sea-blue histiocyte disease, 269600 (3)
{?Macular degeneration, age-related}, 603075 (3)
{Myocardial infarction susceptibility} (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
BRCA1 {Breast-ovarian cancer, familial, 1}, 604370 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
CABP4 Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CASP10 Autoimmune lymphoproliferative syndrome, type II, 603909 (3)
Gastric cancer, somatic, 613659 (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
COL4A1 ?Retinal arteries, tortuosity of, 180000 (3)
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)
Brain small vessel disease with or without ocular anomalies, 607595 (3)
Porencephaly 1, 175780 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
COL9A3 Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)
{Intervertebral disc disease, susceptibility to}, 603932 (3)
CRYGD Cataract 4, multiple types, 115700 (3)
CYP2A6 Coumarin resistance, 122700 (3)
{Lung cancer, resistance to}, 211980 (3)
{Nicotine addiction, protection from}, 188890 (3)
DPM1 Congenital disorder of glycosylation, type Ie, 608799 (3)
DVL1 Robinow syndrome, autosomal dominant 2, 616331 (3)
FBXO7 Parkinson disease 15, autosomal recessive, 260300 (3)
FMN2 Mental retardation, autosomal recessive 47, 616193 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
HIP1 {Prostate cancer, progression of}, 176807 (1)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HTT Huntington disease, 143100 (3)
ITPR3 {Diabetes, type 1, susceptibility to}, 222100 (2)
KIF14 ?Meckel syndrome 12, 616258 (3)
KIF1A Mental retardation, autosomal dominant 9, 614255 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Spastic paraplegia 30, autosomal recessive, 610357 (3)
KMT2D Kabuki syndrome 1, 147920 (3)
LPL Combined hyperlipidemia, familial, 144250 (3)
Lipoprotein lipase deficiency, 238600 (3)
[High density lipoprotein cholesterol level QTL 11] (3)
MARVELD2 Deafness, autosomal recessive 49, 610153 (3)
MSH3 Endometrial carcinoma, somatic, 608089 (3)
Familial adenomatous polyposis 4, 617100 (3)
MTHFR Homocystinuria due to MTHFR deficiency, 236250 (3)
{Neural tube defects, susceptibility to}, 601634 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Thromboembolism, susceptibility to}, 188050 (3)
{Vascular disease, susceptibility to} (3)
NUMA1 Leukemia, acute promyelocytic, somatic, 612376 (3)
OTOGL Deafness, autosomal recessive 84B, 614944 (3)
PCNT Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PKD1 Polycystic kidney disease, adult type I, 173900 (3)
PROM1 Cone-rod dystrophy 12, 612657 (3)
Macular dystrophy, retinal, 2, 608051 (3)
Retinitis pigmentosa 41, 612095 (3)
Stargardt disease 4, 603786 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
PTPRO Nephrotic syndrome, type 6, 614196 (3)
PYGM McArdle disease, 232600 (3)
RB1CC1 Breast cancer, somatic, 114480 (3)
RELN Lissencephaly 2 (Norman-Roberts type), 257320 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
SETX Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SHANK2 {Autism susceptibility 17}, 613436 (3)
SLX4 Fanconi anemia, complementation group P, 613951 (3)
TENM3 Microphthalmia, isolated, with coloboma 9, 615145 (3)
TRAF3IP2 ?Candidiasis, familial, 8, 615527 (3)
{Psoriasis susceptibility 13}, 614070 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
ZFHX3 {Prostate cancer, susceptibility to, somatic}, 176807 (3)

Genes at Clinical Genomics Database

ABCC6, ADCK4, ALOXE3, APOE, ATM, BRCA1, CABP4, CACNA1A, CASP10, CAST, COL4A1, COL9A3, CRYGD, CYP2A6, DNAH1, DPM1, DVL1, FBXO7, FMN2, HMCN1, HTT, KIF14, KIF1A, KMT2D, LPL, MARVELD2, MSH3, MTHFR, OTOGL, PCNT, PKD1, PROM1, PRSS1, PTPRO, PYGM, RB1CC1, RELN, RIN2, RP1L1, SETX, SHANK2, SLX4, TENM3, TRAF3IP2, TRIOBP,
ABCC6 Pseudoxanthoma elasticum
ADCK4 Nephrotic syndrome, type 9
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
APOE Sea-blue histiocyte disease
Lipoprotein glomerulopathy
Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III)
ATM Ataxia-Telangiectasia
Breast cancer, susceptibility to
BRCA1 Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
CABP4 Cone-rod synaptic disorder, congenital nonprogressive
CACNA1A Migraine, familial hemiplegic 1
Episodic ataxia, type 2
CASP10 Autoimmune lymphoproliferative syndrome, type IIA
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
COL4A1 Schizencephaly
Retinal artery tortuosity
Porencephaly 1
Anterior segment dysgenesis with cerebral involvement
Brain small vessel disease with or without ocular anomalies
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
COL9A3 Epiphyseal dysplasia, multiple, 3
CRYGD Cataract 4, multiple types
CYP2A6 CYP2A6-related drug metabolism
DNAH1 Spermatogenic failure
DPM1 Congenital disorder of glycosylation, type Ie
DVL1 Robinow syndrome, autosomal dominant 2
FBXO7 Parkinson disease 15, autosomal recessive
FMN2 Mental retardation, autosomal recessive, 47
HMCN1 Macular degeneration, age-related, 1
HTT Huntington disease
KIF14 Meckel syndrome 12
KIF1A Spastic paraplegia 30, autosomal recessive
Neuropathy, hereditary sensory, type IIC
Mental retardation, autosomal dominant 9
KMT2D Kabuki syndrome 1
LPL Hyperlipoproteinemia, type I
Combined hyperlipidemia, familial
Lipoprotein lipase deficiency
MARVELD2 Deafness, autosomal recessive 49
MSH3 Endometrial carcinoma
MTHFR Homocystinuria due to MTHFR deficiency
OTOGL Deafness, autosomal recessive 84B
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
PKD1 Polycystic kidney disease, adult type I
PROM1 Retinitis pigmentosa 41
Stargardt disease 4
Macular dystrophy, retinal, 2
Cone-rod dystrophy 12
PRSS1 Pancreatitis, hereditary
PTPRO Nephrotic syndrome, type 6
PYGM Glycogen storage disease V
RB1CC1 Schizophrenia
RELN Lissencephaly 2
Epilepsy, familial temporal lobe, 7
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis
RP1L1 Retinitis pigmentosa, autosomal recessive
Occult macular dystrophy
SETX Ataxia with oculomotor apraxia, type 2
Amyotrophic lateral sclerosis 4, juvenile
Spinocerebellar ataxia, autosomal recessive 1
SHANK2 Autism, susceptibility to 17
SLX4 Fanconi anemia type P
TENM3 Microphthalmia, isolated, with coloboma 9
TRAF3IP2 Candidiasis, familial 8
TRIOBP Deafness, autosomal recessive 28

Summary

Number of Variants: 496
Number of Genes: 214

Export to: CSV
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD

ABCA8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 17 rs767871494
dbSNP
66873703 573.77 C T . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.90
View index10_otc2919_snpeff snpsift 17 rs767871494
dbSNP
66873703 352.77 C T . 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.90

ABCC6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 16 rs72657698
dbSNP
16302586 493.77 T C . 1/1 17 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.29 0.00 True
View index10_otc2919_snpeff snpsift 16 rs72657698
dbSNP
16302586 187.77 T C . 0/1 26 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.29 0.00 True

ABTB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 11 . 34378689 266.77 C T . 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.65
View index10_otc2919_snpeff snpsift 11 . 34378689 592.77 C T . 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.65

AC019294.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 15 . 76030749 164.77 C T . 0/1 14 STOP_GAINED HIGH NONSENSE
View index12_otc2921_snpeff snpsift 15 . 76030749 131.77 C T . 0/1 12 STOP_GAINED HIGH NONSENSE

ACOXL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 2 rs185887789
dbSNP
111691181 102.77 C T . 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00080 0.00080 0.00008 0.11 0.00
View index10_otc2919_snpeff snpsift 2 rs185887789
dbSNP
111691181 248.77 C T . 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00080 0.00080 0.00008 0.11 0.00

ACTL6B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 7 rs141807780
dbSNP
100253168 627.77 C G . 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.00120 0.00085 0.50 0.01
View index12_otc2921_snpeff snpsift 7 rs141807780
dbSNP
100253168 403.77 C G . 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.00120 0.00085 0.50 0.01

ADAM15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 1 rs149542900
dbSNP
155030534 1361.77 G A . 0/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.00092 0.02 0.38
View index12_otc2921_snpeff snpsift 1 rs149542900
dbSNP
155030534 1271.77 G A . 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.00092 0.02 0.38

ADAM21

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 14 rs72735759
dbSNP
70924602 468.77 T G . 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.49
View index12_otc2921_snpeff snpsift 14 rs72735759
dbSNP
70924602 609.77 T G . 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.49

ADCK4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 19 rs147603227
dbSNP
41211057 396.77 G A . 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.04
View index12_otc2921_snpeff snpsift 19 rs147603227
dbSNP
41211057 308.77 G A . 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.04

AGAP6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 10 rs199932582
dbSNP
51768922 80.77 C T . 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.29
View index12_otc2921_snpeff snpsift 10 rs199932582
dbSNP
51768922 124.03 C T . 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.29

ALDH3B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 11 rs370997458
dbSNP
67789149 307.77 G A . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.05 0.11
View index10_otc2919_snpeff snpsift 11 rs370997458
dbSNP
67789149 605.77 G A . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.05 0.11

ALOXE3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 17 rs79377087
dbSNP
8021612 966.77 C A . 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00280 0.00280 0.12 0.03
View index12_otc2921_snpeff snpsift 17 rs79377087
dbSNP
8021612 848.77 C A . 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00280 0.00280 0.12 0.03

ANKRD36

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 2 rs78284834
dbSNP
97830179 38.77 G A . 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00
View index10_otc2919_snpeff snpsift 2 rs78284834
dbSNP
97830179 120.77 G A . 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00
View index10_otc2919_snpeff snpsift 2 rs199506401
dbSNP
97830192 90.77 T C . 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.83
View index12_otc2921_snpeff snpsift 2 rs199506401
dbSNP
97830192 46.77 T C . 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.83

AOC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 17 . 41004772 706.77 A G . 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00
View index10_otc2919_snpeff snpsift 17 . 41004772 775.77 A G . 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00

APBA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 15 . 29393976 750.77 G A . 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.74
View index12_otc2921_snpeff snpsift 15 . 29393976 943.77 G A . 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.74

APOE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 19 rs267606664
dbSNP
45411987 113.77 G A . 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00016 0.07 1.00 True
View index12_otc2921_snpeff snpsift 19 rs267606664
dbSNP
45411987 364.77 G A . 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00016 0.07 1.00 True

AQPEP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 5 . 115336320 451.77 G A . 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.99
View index12_otc2921_snpeff snpsift 5 . 115336320 531.77 G A . 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.99

ARHGEF17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 11 rs190347430
dbSNP
73019982 312.77 G A . 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00719 0.00719 0.16 0.00
View index12_otc2921_snpeff snpsift 11 rs190347430
dbSNP
73019982 328.77 G A . 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00719 0.00719 0.16 0.00

ARSD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift X rs67359049
dbSNP
2836047 385.77 C T . 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.33
View index10_otc2919_snpeff snpsift X rs111939179
dbSNP
2833605 261.77 C T . 0/1 19 STOP_GAINED HIGH NONSENSE
View index10_otc2919_snpeff snpsift X rs78034736
dbSNP
2835863 311.77 G T . 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98
View index10_otc2919_snpeff snpsift X rs143238998
dbSNP
2835989 126.77 A C . 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00371 0.00371 0.05 0.08
View index10_otc2919_snpeff snpsift X rs150899882
dbSNP
2835995 135.77 C A . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90 0.00
View index10_otc2919_snpeff snpsift X rs67272620
dbSNP
2836041 277.77 A T . 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00
View index10_otc2919_snpeff snpsift X rs67359049
dbSNP
2836047 255.77 C T . 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.33
View index10_otc2919_snpeff snpsift X rs73632975
dbSNP
2836181 514.77 A T . 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.15
View index10_otc2919_snpeff snpsift X rs73632976
dbSNP
2836184 514.77 C T . 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.95
View index10_otc2919_snpeff snpsift X rs73632977
dbSNP
2836211 491.77 A T . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.64
View index12_otc2921_snpeff snpsift X rs111939179
dbSNP
2833605 211.77 C T . 0/1 28 STOP_GAINED HIGH NONSENSE
View index12_otc2921_snpeff snpsift X rs370769167
dbSNP
2833638 262.77 C T . 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.96
View index12_otc2921_snpeff snpsift X rs115332247
dbSNP
2833643 300.77 C A . 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.01
View index12_otc2921_snpeff snpsift X rs78034736
dbSNP
2835863 336.77 G T . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98
View index12_otc2921_snpeff snpsift X rs143238998
dbSNP
2835989 130.77 A C . 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00371 0.00371 0.05 0.08
View index12_otc2921_snpeff snpsift X rs150899882
dbSNP
2835995 122.77 C A . 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90 0.00
View index12_otc2921_snpeff snpsift X rs67272620
dbSNP
2836041 310.77 A T . 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00
View index10_otc2919_snpeff snpsift X rs370769167
dbSNP
2833638 248.77 C T . 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.96
View index12_otc2921_snpeff snpsift X rs73632975
dbSNP
2836181 275.77 A T . 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.15
View index12_otc2921_snpeff snpsift X rs73632976
dbSNP
2836184 241.77 C T . 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.95
View index12_otc2921_snpeff snpsift X rs73632977
dbSNP
2836211 196.77 A T . 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.64
View index12_otc2921_snpeff snpsift X rs73632978
dbSNP
2836238 85.77 G A . 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.09
View index10_otc2919_snpeff snpsift X rs73632978
dbSNP
2836238 369.77 G A . 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.09
View index10_otc2919_snpeff snpsift X rs115332247
dbSNP
2833643 281.77 C A . 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.01

ATG13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 11 rs145617209
dbSNP
46671800 1055.77 A G . 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.00069 0.55 0.33
View index12_otc2921_snpeff snpsift 11 rs145617209
dbSNP
46671800 891.77 A G . 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.00069 0.55 0.33

ATM

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 11 rs367603277
dbSNP
108153555 202.77 C G . 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.02 0.01
View index12_otc2921_snpeff snpsift 11 rs367603277
dbSNP
108153555 532.77 C G . 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.02 0.01

ATP8B3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 19 rs202137046
dbSNP
1788909 205.77 C T . 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.00120 0.00360 0.00 0.96
View index10_otc2919_snpeff snpsift 19 rs202137046
dbSNP
1788909 459.77 C T . 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.00120 0.00360 0.00 0.96

B3GNT6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 11 . 76750776 254.77 C T . 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47 0.28
View index10_otc2919_snpeff snpsift 11 . 76750776 310.77 C T . 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47 0.28

BMP3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 4 rs114620549
dbSNP
81967239 472.77 A G . 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00060 0.00060 0.00085 0.43 0.05
View index12_otc2921_snpeff snpsift 4 rs114620549
dbSNP
81967239 1043.77 A G . 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00060 0.00060 0.00085 0.43 0.05

BOD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 5 rs72822197
dbSNP
173036394 147.77 C T . 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.49
View index12_otc2921_snpeff snpsift 5 rs72822197
dbSNP
173036394 159.77 C T . 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.49

BOK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 2 rs142158341
dbSNP
242498984 32.77 C G . 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00699 0.00366 0.06 0.08
View index10_otc2919_snpeff snpsift 2 rs142158341
dbSNP
242498984 37.77 C G . 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00699 0.00366 0.06 0.08

BRCA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 17 rs80357442
dbSNP
41209094 603.77 C T . 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.00 0.02
View index12_otc2921_snpeff snpsift 17 rs80357442
dbSNP
41209094 540.77 C T . 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.00 0.02

BTN1A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 6 rs148996980
dbSNP
26508869 926.77 C T . 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00077 0.23 0.28
View index12_otc2921_snpeff snpsift 6 rs148996980
dbSNP
26508869 730.77 C T . 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00077 0.23 0.28

C1orf226

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 1 rs746587084
dbSNP
162353141 794.77 G A . 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57 0.01
View index10_otc2919_snpeff snpsift 1 rs746587084
dbSNP
162353141 591.77 G A . 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57 0.01

C1orf94

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 1 . 34667808 423.77 A G . 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.94
View index10_otc2919_snpeff snpsift 1 . 34667808 484.77 A G . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.94

C20orf78

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 20 rs566133535
dbSNP
18790493 647.77 A G . 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.16 0.30
View index12_otc2921_snpeff snpsift 20 rs566133535
dbSNP
18790493 1002.77 A G . 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.16 0.30

C21orf54

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 21 rs79010120
dbSNP
34542017 763.77 C T . 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00679 0.00679 0.69
View index10_otc2919_snpeff snpsift 21 rs79010120
dbSNP
34542017 563.77 C T . 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00679 0.00679 0.69

C5orf45

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 5 rs112867427
dbSNP
179280392 773.77 G A . 0/1 47 STOP_GAINED HIGH NONSENSE 0.00339 0.00340 0.00338
View index12_otc2921_snpeff snpsift 5 rs112867427
dbSNP
179280392 403.77 G A . 0/1 35 STOP_GAINED HIGH NONSENSE 0.00339 0.00340 0.00338

C8orf31

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 8 rs148676786
dbSNP
144126187 423.77 G A . 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00031 0.19 0.72
View index12_otc2921_snpeff snpsift 8 rs148676786
dbSNP
144126187 363.77 G A . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00031 0.19 0.72

CABP4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 11 rs139706575
dbSNP
67223193 812.77 G A . 0/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00160 0.00160 0.00085 0.14 0.74
View index10_otc2919_snpeff snpsift 11 rs139706575
dbSNP
67223193 1079.77 G A . 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00160 0.00160 0.00085 0.14 0.74

CACNA1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index10_otc2919_snpeff snpsift 19 rs760816963
dbSNP
13410043 325.77 G T . 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86
View index12_otc2921_snpeff snpsift 19 rs760816963
dbSNP
13410043 654.77 G T . 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86

CAMKV

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 3 rs773741414
dbSNP
49896981 615.77 C G . 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 0.16
View index10_otc2919_snpeff snpsift 3 rs773741414
dbSNP
49896981 744.77 C G . 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 0.16

CARF

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View index12_otc2921_snpeff snpsift 2 rs115268453
dbSNP
203817297 489.77 C T . 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00200 0.00200 0.00639 0.17 0.01
View index10_otc2919_snpeff snpsift 2 rs115268453
dbSNP
203817297 751.77 C T . 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00200 0.00200 0.00639 0.17 0.01