3-39144398-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144398
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144398
    reference: chr 3
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.145-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.139-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.431T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.189-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.*90T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.254-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.242-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-1805T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.40-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-1805T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.183-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.145-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-75-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.265-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.145-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.275T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-1805T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-1805T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-75-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-1805T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.215-26T>C
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/3-39144403-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144403
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144404
    reference: chr 3
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.269dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.145-32dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-1811dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-1811dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.145-32dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-75-32dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-75-32dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.*84dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-1811dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-1811dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.425dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.265-32dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.242-32dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.183-32dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.145-32dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.40-32dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-1811dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.254-32dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-1811dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.189-32dupT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.215-32dupT
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

3-39144405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144405
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144405
    reference: chr 3
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.189-33G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.145-33G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.268G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-75-33G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.242-33G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-75-33G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.145-33G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-1812G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-1812G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.145-33G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.*83G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.183-33G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.145-33G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-1812G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.40-33G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.265-33G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-1812G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-1812G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.254-33G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.215-33G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

3-39144423-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144423
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144423
    reference: chr 3
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.265-51T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-1830T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.183-51T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.145-51T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.139-51T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.145-51T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-1830T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.145-51T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-75-51T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-1830T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.215-51T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-1830T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.145-51T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.40-51T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.242-51T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.189-51T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.*65T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.406T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.250T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-75-51T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-1830T>A
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

3-39144916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144916
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144916
    reference: chr 3
allele count: 1
allele frequency: 8.667464073361416e-6
allele num: 115374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2323G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.182+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.144+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-76+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.281G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-76+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2323G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.230+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.39+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.230+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.241+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2323G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.144+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2323G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.144+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.264+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2323G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.138+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.144+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.188+48G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2323G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-39144918-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144918
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144918
    reference: chr 3
allele count: 2
allele frequency: 1.733673133267454e-5
allele num: 115362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.182+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.214+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.144+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-76+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.144+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2325G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.138+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2325G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.279G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2325G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.144+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.230+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.39+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.253+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.144+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2325G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2325G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.264+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-76+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.241+46G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2325G>T
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/3-39144920-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144920
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144918
    reference: chr 3
allele count: 1
allele frequency: 8.661308203991131e-6
allele num: 115456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.214+42_214+43delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.144+42_144+43delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.230+42_230+43delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.144+42_144+43delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.144+42_144+43delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2329_137-2328delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2329_64-2328delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2329_134-2328delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.182+42_182+43delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2329_64-2328delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.241+42_241+43delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.230+42_230+43delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2329_161-2328delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.138+42_138+43delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.253+42_253+43delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.275_276delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-76+42_-76+43delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-76+42_-76+43delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.264+42_264+43delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2329_64-2328delGT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.188+42_188+43delGT
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: AAC
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

3-39144927-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144927
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144927
    reference: chr 3
allele count: 1
allele frequency: 8.645582971659779e-6
allele num: 115666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.230+37T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2334T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.270T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2334T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.144+37T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.214+37T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.144+37T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2334T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.144+37T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.188+37T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.138+37T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.39+37T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2334T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-76+37T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.230+37T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.264+37T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.241+37T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2334T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-76+37T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2334T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.253+37T>C
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

3-39144932-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144932
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144932
    reference: chr 3
allele count: 1
allele frequency: 8.651716500553709e-6
allele num: 115584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.230+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-76+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2339G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.253+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.182+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2339G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2339G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-76+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.39+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.144+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.265G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2339G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.144+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.138+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.214+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.230+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.144+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.188+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.241+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.144+32G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.144+32G>C
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-39144933-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144933
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144933
    reference: chr 3
allele count: 3
allele frequency: 2.590494611771208e-5
allele num: 115808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.264+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.144+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2340T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.144+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2340T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.39+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.241+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.182+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-76+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.264T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2340T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.144+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2340T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.230+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-76+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.230+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.138+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.188+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.144+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.144+31T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2340T>C
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-39144949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144949
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144949
    reference: chr 3
allele count: 9
allele frequency: 7.713800846803916e-5
allele num: 116674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.248C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.144+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2356C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2356C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.230+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.39+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2356C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-76+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.264+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-76+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.144+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.188+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.182+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.253+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.230+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.241+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.144+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2356C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2356C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.144+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2356C>T
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

3-39144951-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144951
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144951
    reference: chr 3
allele count: 9
allele frequency: 7.727311754099768e-5
allele num: 116470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.144+13A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2358A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.188+13A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.246A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.230+13A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2358A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2358A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2358A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.144+13A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.144+13A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.253+13A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.144+13A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.39+13A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-76+13A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.241+13A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.138+13A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2358A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.214+13A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2358A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.144+13A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.264+13A>C
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

3-39144955-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144955
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144955
    reference: chr 3
allele count: 1
allele frequency: 8.538105565137207e-6
allele num: 117122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.253+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.230+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2362C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.241+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-76+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2362C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2362C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.182+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.138+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.144+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.144+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.188+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.144+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.242C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2362C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.144+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.214+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.144+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.39+9C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2362C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2362C>G
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

3-39144956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144956
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144956
    reference: chr 3
allele count: 1
allele frequency: 8.530530769624486e-6
allele num: 117226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.253+8C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.138+8C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.144+8C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.144+8C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.230+8C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.230+8C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.144+8C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-76+8C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2363C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-76+8C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.144+8C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.39+8C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.144+8C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2363C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2363C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.241C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.241+8C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2363C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.264+8C>T
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.144+8C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

3-39144970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144970
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144970
    reference: chr 3
allele count: 5
allele frequency: 4.201186415043609e-5
allele num: 119014
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.138G>A
  hgvsp: ENST00000319283.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.258G>A
  hgvsp: ENST00000437458.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.138G>A
  hgvsp: ENST00000411813.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.33G>A
  hgvsp: ENST00000419156.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2377G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.224G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2377G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2377G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.138G>A
  hgvsp: ENST00000453680.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.132G>A
  hgvsp: ENST00000441081.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-82G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.176G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-82G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.138G>A
  hgvsp: ENST00000452389.2:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.138G>A
  hgvsp: ENST00000413243.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.247G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2377G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.208G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2377G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.227G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser46Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

3-39144971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144971
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144971
    reference: chr 3
allele count: 1
allele frequency: 8.389824820457749e-6
allele num: 119192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.226C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.246C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.137C>T
  hgvsp: ENSP00000403167.2:p.Ser46Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.137C>T
  hgvsp: ENSP00000392020.1:p.Ser46Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2378C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.137C>T
  hgvsp: ENSP00000313869.3:p.Ser46Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.257C>T
  hgvsp: ENSP00000392993.1:p.Ser86Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.131C>T
  hgvsp: ENSP00000411104.1:p.Ser44Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.137C>T
  hgvsp: ENSP00000398673.1:p.Ser46Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2378C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2378C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2378C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-83C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.137C>T
  hgvsp: ENSP00000403994.1:p.Ser46Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2378C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.32C>T
  hgvsp: ENSP00000395241.1:p.Ser11Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.223C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.207C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.181C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.223C>T
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser46Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum

3-39144971-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144971
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144971
    reference: chr 3
allele count: 1
allele frequency: 8.389824820457749e-6
allele num: 119192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.131C>G
  hgvsp: ENSP00000411104.1:p.Ser44Trp
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.137C>G
  hgvsp: ENSP00000403994.1:p.Ser46Trp
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.137C>G
  hgvsp: ENSP00000313869.3:p.Ser46Trp
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.32C>G
  hgvsp: ENSP00000395241.1:p.Ser11Trp
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.137C>G
  hgvsp: ENSP00000392020.1:p.Ser46Trp
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.175C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.137C>G
  hgvsp: ENSP00000403167.2:p.Ser46Trp
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2378C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2378C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.137C>G
  hgvsp: ENSP00000398673.1:p.Ser46Trp
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.181C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.257C>G
  hgvsp: ENSP00000392993.1:p.Ser86Trp
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.226C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.207C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.234C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-83C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2378C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.246C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.223C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.223C>G
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser46Trp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

3-39144980-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144980
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144980
    reference: chr 3
allele count: 1
allele frequency: 8.343345347750633e-6
allele num: 119856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2387T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.128T>C
  hgvsp: ENSP00000403994.1:p.Ile43Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.214T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.128T>C
  hgvsp: ENSP00000392020.1:p.Ile43Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.225T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.214T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.166T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.128T>C
  hgvsp: ENSP00000313869.3:p.Ile43Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2387T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.248T>C
  hgvsp: ENSP00000392993.1:p.Ile83Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.128T>C
  hgvsp: ENSP00000403167.2:p.Ile43Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-92T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.172T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.198T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2387T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.237T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2387T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.23T>C
  hgvsp: ENSP00000395241.1:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.122T>C
  hgvsp: ENSP00000411104.1:p.Ile41Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2387T>C
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile43Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

3-39144983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144983
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144983
    reference: chr 3
allele count: 1
allele frequency: 8.335695113615524e-6
allele num: 119966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.125C>T
  hgvsp: ENSP00000403994.1:p.Thr42Ile
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.125C>T
  hgvsp: ENSP00000403167.2:p.Thr42Ile
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.169C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.125C>T
  hgvsp: ENSP00000392020.1:p.Thr42Ile
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.234C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2390C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.163C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.214C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.125C>T
  hgvsp: ENSP00000313869.3:p.Thr42Ile
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.119C>T
  hgvsp: ENSP00000411104.1:p.Thr40Ile
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-95C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.245C>T
  hgvsp: ENSP00000392993.1:p.Thr82Ile
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2390C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.20C>T
  hgvsp: ENSP00000395241.1:p.Thr7Ile
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.195C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2390C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.125C>T
  hgvsp: ENSP00000398673.1:p.Thr42Ile
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-95C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2390C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.211C>T
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr42Ile
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

3-39144988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144988
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144988
    reference: chr 3
allele count: 10
allele frequency: 8.325562808045824e-5
allele num: 120112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-100C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.158C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.190C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.206C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2395C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.120C>T
  hgvsp: ENST00000413243.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.229C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2395C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2395C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.240C>T
  hgvsp: ENST00000437458.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.120C>T
  hgvsp: ENST00000411813.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2395C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.120C>T
  hgvsp: ENST00000452389.2:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.120C>T
  hgvsp: ENST00000319283.3:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2395C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.15C>T
  hgvsp: ENST00000419156.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.114C>T
  hgvsp: ENST00000441081.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.206C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.217C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.164C>T
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile40Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-39144990-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144990
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144990
    reference: chr 3
allele count: 1
allele frequency: 8.321682977165302e-6
allele num: 120168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.118A>C
  hgvsp: ENSP00000403994.1:p.Ile40Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.215A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.162A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2397A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.118A>C
  hgvsp: ENSP00000403167.2:p.Ile40Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.118A>C
  hgvsp: ENSP00000313869.3:p.Ile40Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.118A>C
  hgvsp: ENSP00000398673.1:p.Ile40Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.188A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-102A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.156A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.118A>C
  hgvsp: ENSP00000392020.1:p.Ile40Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.112A>C
  hgvsp: ENSP00000411104.1:p.Ile38Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.238A>C
  hgvsp: ENSP00000392993.1:p.Ile80Leu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.204A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-102A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2397A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.227A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2397A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2397A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.207A>C
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile40Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-39144997-AAAGTAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144997
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144990
    reference: chr 3
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.213_219delCCTACTT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.98_104delCCTACTT
  hgvsp: ENSP00000411104.1:p.Pro33LeufsTer12
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.104_110delCCTACTT
  hgvsp: ENSP00000403167.2:p.Pro35LeufsTer12
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.193_199delCCTACTT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.104_110delCCTACTT
  hgvsp: ENSP00000403994.1:p.Pro35LeufsTer33
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.142_148delCCTACTT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.174_180delCCTACTT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.104_110delCCTACTT
  hgvsp: ENSP00000398673.1:p.Pro35LeufsTer12
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.224_230delCCTACTT
  hgvsp: ENSP00000392993.1:p.Pro75LeufsTer12
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.104_110delCCTACTT
  hgvsp: ENSP00000313869.3:p.Pro35LeufsTer12
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.201_207delCCTACTT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.104_110delCCTACTT
  hgvsp: ENSP00000392020.1:p.Pro35LeufsTer12
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-116_-110delCCTACTT
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-116_-110delCCTACTT
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro35LeufsTer12
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: AAAGTAGG
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-39144998-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39144998
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39144998
    reference: chr 3
allele count: 5
allele frequency: 4.155723262076532e-5
allele num: 120316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.207T>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.180T>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.110T>G
  hgvsp: ENSP00000403167.2:p.Phe37Cys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2405T>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.110T>G
  hgvsp: ENSP00000398673.1:p.Phe37Cys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.104T>G
  hgvsp: ENSP00000411104.1:p.Phe35Cys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2405T>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.110T>G
  hgvsp: ENSP00000403994.1:p.Phe37Cys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.230T>G
  hgvsp: ENSP00000392993.1:p.Phe77Cys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.148T>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.5T>G
  hgvsp: ENSP00000395241.1:p.Phe2Cys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.219T>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.110T>G
  hgvsp: ENSP00000313869.3:p.Phe37Cys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-110T>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.110T>G
  hgvsp: ENSP00000392020.1:p.Phe37Cys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-110T>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2405T>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2405T>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.199T>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2405T>G
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe37Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

3-39145000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145000
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145000
    reference: chr 3
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.108C>T
  hgvsp: ENST00000452389.2:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.102C>T
  hgvsp: ENST00000441081.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395241
  ensembl transcript: ENST00000419156
  gene symbol: GORASP1
  hgvsc: ENST00000419156.1:c.3C>T
  hgvsp: ENST00000419156.1:c.3C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2407C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-112C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2407C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.228C>T
  hgvsp: ENST00000437458.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.217C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.108C>T
  hgvsp: ENST00000319283.3:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2407C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.194C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.108C>T
  hgvsp: ENST00000413243.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-112C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.108C>T
  hgvsp: ENST00000453680.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.108C>T
  hgvsp: ENST00000411813.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2407C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.152C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2407C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2407C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.197C>T
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr36Tyr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-39145007-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145007
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145007
    reference: chr 3
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.101A>C
  hgvsp: ENSP00000398673.1:p.Glu34Ala
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-119A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.101A>C
  hgvsp: ENSP00000313869.3:p.Glu34Ala
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.190A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.95A>C
  hgvsp: ENSP00000411104.1:p.Glu32Ala
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2414A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2414A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2414A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.101A>C
  hgvsp: ENSP00000403994.1:p.Glu34Ala
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.187A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.221A>C
  hgvsp: ENSP00000392993.1:p.Glu74Ala
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2414A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.198A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.145A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2414A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.101A>C
  hgvsp: ENSP00000403167.2:p.Glu34Ala
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.171A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.101A>C
  hgvsp: ENSP00000392020.1:p.Glu34Ala
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.187A>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-119A>C
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu34Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

3-39145008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145008
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145008
    reference: chr 3
allele count: 1
allele frequency: 8.312966565248474e-6
allele num: 120294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.100G>A
  hgvsp: ENSP00000403994.1:p.Glu34Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.100G>A
  hgvsp: ENSP00000392020.1:p.Glu34Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.100G>A
  hgvsp: ENSP00000313869.3:p.Glu34Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2415G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.220G>A
  hgvsp: ENSP00000392993.1:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.94G>A
  hgvsp: ENSP00000411104.1:p.Glu32Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.100G>A
  hgvsp: ENSP00000403167.2:p.Glu34Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.197G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.209G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2415G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2415G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.138G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.144G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-120G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.186G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.186G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.100G>A
  hgvsp: ENSP00000398673.1:p.Glu34Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2415G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-120G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.189G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu34Lys
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

3-39145012-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145012
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145012
    reference: chr 3
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.96C>G
  hgvsp: ENST00000413243.1:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.182C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.96C>G
  hgvsp: ENST00000452389.2:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2419C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.96C>G
  hgvsp: ENST00000319283.3:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-124C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.193C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.166C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2419C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.134C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.140C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2419C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.96C>G
  hgvsp: ENST00000453680.1:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.216C>G
  hgvsp: ENST00000437458.1:c.216C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.182C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.96C>G
  hgvsp: ENST00000411813.1:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.205C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2419C>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.90C>G
  hgvsp: ENST00000441081.1:c.90C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2419C>G
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly32Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-39145015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145015
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145015
    reference: chr 3
allele count: 6
allele frequency: 4.990518015770037e-5
allele num: 120228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2422G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-127G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.93G>A
  hgvsp: ENST00000413243.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.93G>A
  hgvsp: ENST00000411813.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2422G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.182G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.179G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.190G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.93G>A
  hgvsp: ENST00000453680.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.213G>A
  hgvsp: ENST00000437458.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.93G>A
  hgvsp: ENST00000452389.2:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.87G>A
  hgvsp: ENST00000441081.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.137G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2422G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.131G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.179G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.202G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2422G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.93G>A
  hgvsp: ENST00000319283.3:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2422G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala31Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-39145016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145016
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145016
    reference: chr 3
allele count: 527
allele frequency: 4.384724186704385e-3
allele num: 120190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.130C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-128C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.92C>T
  hgvsp: ENSP00000392020.1:p.Ala31Val
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.92C>T
  hgvsp: ENSP00000403167.2:p.Ala31Val
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.86C>T
  hgvsp: ENSP00000411104.1:p.Ala29Val
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.178C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.178C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.189C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.92C>T
  hgvsp: ENSP00000398673.1:p.Ala31Val
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2423C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2423C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.92C>T
  hgvsp: ENSP00000313869.3:p.Ala31Val
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.136C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-128C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.92C>T
  hgvsp: ENSP00000403994.1:p.Ala31Val
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.212C>T
  hgvsp: ENSP00000392993.1:p.Ala71Val
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.162C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2423C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2423C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2423C>T
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala31Val
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

3-39145017-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145017
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145017
    reference: chr 3
allele count: 1
allele frequency: 8.319329129299013e-6
allele num: 120202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.188G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-129G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.91G>A
  hgvsp: ENSP00000392020.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.211G>A
  hgvsp: ENSP00000392993.1:p.Ala71Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.200G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.129G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.180G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.91G>A
  hgvsp: ENSP00000398673.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.177G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.91G>A
  hgvsp: ENSP00000403994.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.161G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.91G>A
  hgvsp: ENSP00000403167.2:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.91G>A
  hgvsp: ENSP00000313869.3:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-129G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.85G>A
  hgvsp: ENSP00000411104.1:p.Ala29Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.135G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2424G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala31Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

3-39145026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145026
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145026
    reference: chr 3
allele count: 2
allele frequency: 1.668502018887443e-5
allele num: 119868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.82G>A
  hgvsp: ENSP00000392020.1:p.Ala28Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.179G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.152G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-138G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.120G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.82G>A
  hgvsp: ENSP00000403994.1:p.Ala28Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2433G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.76G>A
  hgvsp: ENSP00000411104.1:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2433G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.82G>A
  hgvsp: ENSP00000313869.3:p.Ala28Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.168G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-138G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.126G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.191G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.82G>A
  hgvsp: ENSP00000403167.2:p.Ala28Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.82G>A
  hgvsp: ENSP00000398673.1:p.Ala28Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.202G>A
  hgvsp: ENSP00000392993.1:p.Ala68Thr
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.168G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2433G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2433G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala28Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-39145038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145038
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145038
    reference: chr 3
allele count: 1
allele frequency: 8.385884878572387e-6
allele num: 119248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-150G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2445G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.64G>A
  hgvsp: ENSP00000411104.1:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.70G>A
  hgvsp: ENSP00000403994.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-150G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2445G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.167G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.70G>A
  hgvsp: ENSP00000313869.3:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.70G>A
  hgvsp: ENSP00000398673.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.70G>A
  hgvsp: ENSP00000392020.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2445G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.159G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.108G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2445G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2445G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.190G>A
  hgvsp: ENSP00000392993.1:p.Glu64Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.70G>A
  hgvsp: ENSP00000403167.2:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.140G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2445G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.156G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu24Lys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-39145040-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145040
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145040
    reference: chr 3
allele count: 6
allele frequency: 5.035838383160156e-5
allele num: 119146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.165A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.68A>G
  hgvsp: ENSP00000403167.2:p.Gln23Arg
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.188A>G
  hgvsp: ENSP00000392993.1:p.Gln63Arg
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-152A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.68A>G
  hgvsp: ENSP00000313869.3:p.Gln23Arg
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.68A>G
  hgvsp: ENSP00000403994.1:p.Gln23Arg
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2447A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2447A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.68A>G
  hgvsp: ENSP00000392020.1:p.Gln23Arg
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.112A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.68A>G
  hgvsp: ENSP00000398673.1:p.Gln23Arg
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.138A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2447A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.106A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.154A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-152A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.64-2A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.154A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.157A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.177A>G
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.64-2A>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

3-39145043-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145043
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145043
    reference: chr 3
allele count: 1
allele frequency: 8.409438754057554e-6
allele num: 118914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.185T>A
  hgvsp: ENSP00000392993.1:p.Val62Glu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.109T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2450T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.151T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.64-5T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2450T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2450T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.65T>A
  hgvsp: ENSP00000403167.2:p.Val22Glu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2450T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.103T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.162T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.151T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.65T>A
  hgvsp: ENSP00000392020.1:p.Val22Glu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.135T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.174T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.65T>A
  hgvsp: ENSP00000403994.1:p.Val22Glu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-155T>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.65T>A
  hgvsp: ENSP00000398673.1:p.Val22Glu
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2450T>A
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val22Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

3-39145044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145044
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145044
    reference: chr 3
allele count: 1
allele frequency: 8.412126922171002e-6
allele num: 118876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.64G>A
  hgvsp: ENSP00000392020.1:p.Val22Met
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.64G>A
  hgvsp: ENSP00000403167.2:p.Val22Met
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.161G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.64-6G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.150G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.184G>A
  hgvsp: ENSP00000392993.1:p.Val62Met
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.64G>A
  hgvsp: ENSP00000398673.1:p.Val22Met
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.108G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2451G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.64G>A
  hgvsp: ENSP00000313869.3:p.Val22Met
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.64G>A
  hgvsp: ENSP00000403994.1:p.Val22Met
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.150G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2451G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-156G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.173G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.153G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.102G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2451G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val22Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-39145049-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145049
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145049
    reference: chr 3
allele count: 2
allele frequency: 1.687906152417926e-5
allele num: 118490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.168G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.64-5G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.64-11G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.161-5G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.134-5G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.150-5G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-156-5G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.64-5G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.150-5G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.108-5G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2456G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.184-5G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.64-5G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.153-5G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.64-5G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2456G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2456G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-156-5G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2456G>T
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.64-5G>T
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-39145049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145049
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145049
    reference: chr 3
allele count: 3
allele frequency: 2.531859228626888e-5
allele num: 118490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2456G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-156-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.150-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.64-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.161-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.134-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.64-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.150-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.64-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.64-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2456G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.184-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.108-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-156-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.153-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.102-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.168G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.64-5G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2456G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.64-5G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

3-39145063-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145063
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145063
    reference: chr 3
allele count: 4
allele frequency: 3.410815696573835e-5
allele num: 117274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.108-19G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.161-19G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.102-19G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2470G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-156-19G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.64-19G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2470G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.134-19G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2470G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.184-19G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.154G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.64-19G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.64-19G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.150-19G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.64-25G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2470G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.64-19G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.150-19G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2470G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2470G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-156-19G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-39145065-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145065
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145065
    reference: chr 3
allele count: 1
allele frequency: 8.545985950399098e-6
allele num: 117014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.64-21G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.150-21G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2472G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2472G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.64-21G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2472G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.64-27G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.150-21G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.108-21G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.184-21G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.161-21G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2472G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.134-21G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.152G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.102-21G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2472G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.64-21G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-156-21G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2472G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-156-21G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.153-21G>C
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

3-39145068-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145068
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145068
    reference: chr 3
allele count: 1
allele frequency: 8.555051758063135e-6
allele num: 116890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.64-24A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2475A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.64-30A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.149A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.150-24A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2475A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.161-24A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.102-24A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2475A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.153-24A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.150-24A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.64-24A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2475A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-156-24A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.64-24A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.108-24A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2475A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.134-24A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2475A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.64-24A>G
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.64-24A>G
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-39145070-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145070
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145070
    reference: chr 3
allele count: 1
allele frequency: 8.573976267233693e-6
allele num: 116632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-156-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.64-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.161-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.184-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.64-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.64-32T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.153-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2477T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2477T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.102-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.134-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.150-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.64-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2477T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.64-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2477T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.108-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.147T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.64-26T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2477T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.150-26T>C
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-39145074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145074
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145074
    reference: chr 3
allele count: 6
allele frequency: 5.173216533600042e-5
allele num: 115982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2481G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.161-30G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.64-30G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.64-30G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2481G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2481G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.143G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2481G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.64-36G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.134-30G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.102-30G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.150-30G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.64-30G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-156-30G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.64-30G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2481G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.153-30G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.64-30G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2481G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.108-30G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.150-30G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

3-39145082-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145082
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145082
    reference: chr 3
allele count: 3
allele frequency: 2.612830740824609e-5
allele num: 114818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.150-38G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2489G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.108-38G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.64-44G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.102-38G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2489G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2489G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.64-38G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.135G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.64-38G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.161-38G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2489G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.64-38G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2489G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.153-38G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.184-38G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.64-38G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.150-38G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.64-38G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2489G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.134-38G>C
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

3-39145096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39145096
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39145096
    reference: chr 3
allele count: 1
allele frequency: 8.912179384346648e-6
allele num: 112206
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.64-52C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.150-52C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.184-52C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.64-52C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.64-2503C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000486133
  gene symbol: GORASP1
  hgvsc: ENST00000486133.1:n.121C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.64-58C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.102-52C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.64-52C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.64-52C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.108-52C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.64-2503C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.64-2503C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.134-52C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.134-2503C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.161-52C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.153-52C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.161-2503C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.150-52C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-156-52C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.137-2503C>T
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

3-39148445-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148445
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148445
    reference: chr 3
allele count: 1
allele frequency: 1.642036124794746e-4
allele num: 6090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-157+34C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-157+15C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.63+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.160+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.133+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.101+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.149+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.183+39C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.160+525C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.149+525C>T
  variant of: http://identifiers.org/hgnc/16769
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-39148469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148469
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148469
    reference: chr 3
allele count: 1
allele frequency: 1.276813074565884e-4
allele num: 7832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.63+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.183+15G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.160+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-166G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.160+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.133+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.101+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.149+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.63+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.149+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+501G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+501G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/3-39148477-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148477
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148478
    reference: chr 3
allele count: 1
allele frequency: 1.118318049653321e-4
allele num: 8942
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.133+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.63+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-157+1dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.101+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.149+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.160+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.149+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-175dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.63+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.183+6dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+492dupG
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+492dupG
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-157+1dupG
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

3-39148496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148496
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148496
    reference: chr 3
allele count: 6
allele frequency: 5.658242172764995e-4
allele num: 10604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-174C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.160+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.63+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.101+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.171C>T
  hgvsp: ENST00000437458.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-193C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.149+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.160+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.149+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+474C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.63+474C>T
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg57Arg
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-39148520-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148520
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148521
    reference: chr 3
allele count: 1
allele frequency: 8.39066957543212e-5
allele num: 11918
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.63+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.149+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.101+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.146dupA
  hgvsp: ENSP00000392993.1:p.Leu50AlafsTer29
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-199dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.160+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.160+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-218dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.133+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.63+449dupA
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+449dupA
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu50AlafsTer29
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

3-39148522-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148522
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148522
    reference: chr 3
allele count: 1
allele frequency: 8.344459279038718e-5
allele num: 11984
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.149+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.160+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.63+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.101+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-200C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-219C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.145C>A
  hgvsp: ENSP00000392993.1:p.Gln49Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.149+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.160+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.63+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+448C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+448C>A
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln49Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

3-39148541-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148541
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148541
    reference: chr 3
allele count: 1
allele frequency: 8.202099737532808e-5
allele num: 12192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-238G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.160+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-219G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.149+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.160+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.63+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.149+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.126G>C
  hgvsp: ENST00000437458.1:c.126G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.133+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.63+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+429G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+429G>C
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro42Pro
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

3-39148546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148546
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148546
    reference: chr 3
allele count: 1
allele frequency: 8.177952240758914e-5
allele num: 12228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.121G>A
  hgvsp: ENSP00000392993.1:p.Gly41Arg
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.149+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.63+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-243G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.63+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.101+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.160+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.160+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-224G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+424G>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.133+424G>A
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly41Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

3-39148557-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148557
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148557
    reference: chr 3
allele count: 4
allele frequency: 3.262642740619902e-4
allele num: 12260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.149+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.110G>C
  hgvsp: ENSP00000392993.1:p.Gly37Ala
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.160+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.63+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-235G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-254G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.133+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.101+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.149+413G>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.63+413G>C
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly37Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-39148570-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148570
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148570
    reference: chr 3
allele count: 1
allele frequency: 8.138020833333333e-5
allele num: 12288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.97C>A
  hgvsp: ENSP00000392993.1:p.Gln33Lys
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.160+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.63+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.149+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-248C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.160+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-267C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.149+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.101+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.63+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+400C>A
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+400C>A
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln33Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

3-39148575-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148575
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148575
    reference: chr 3
allele count: 21
allele frequency: 1.709262575288947e-3
allele num: 12286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-253A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.92A>T
  hgvsp: ENSP00000392993.1:p.Glu31Val
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.160+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.149+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.101+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.133+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.160+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-272A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.63+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+395A>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.149+395A>T
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu31Val
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

3-39148582-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148582
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148582
    reference: chr 3
allele count: 15
allele frequency: 1.221697344844437e-3
allele num: 12278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.63+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.85T>C
  hgvsp: ENSP00000392993.1:p.Trp29Arg
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.160+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.160+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-279T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.133+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.101+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.63+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-260T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.149+388T>C
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+388T>C
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp29Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/3-39148590-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148590
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148590
    reference: chr 3
allele count: 4
allele frequency: 3.26317506934247e-4
allele num: 12258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.149+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.77G>T
  hgvsp: ENSP00000392993.1:p.Cys26Phe
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-268G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-287G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.160+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000466443
  gene symbol: GORASP1
  hgvsc: ENST00000466443.1:n.160+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.149+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.101+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.133+380G>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.63+380G>T
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys26Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-39148598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148598
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148598
    reference: chr 3
allele count: 377
allele frequency: 3.080065359477124e-2
allele num: 12240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000398673
  ensembl transcript: ENST00000411813
  gene symbol: GORASP1
  hgvsc: ENST00000411813.1:c.63+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000470910
  gene symbol: GORASP1
  hgvsc: ENST00000470910.1:n.101+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000469471
  gene symbol: GORASP1
  hgvsc: ENST00000469471.1:n.152+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392993
  ensembl transcript: ENST00000437458
  gene symbol: GORASP1
  hgvsc: ENST00000437458.1:c.69C>T
  hgvsp: ENST00000437458.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395678
  ensembl transcript: ENST00000427459
  gene symbol: GORASP1
  hgvsc: ENST00000427459.1:c.63+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493938
  gene symbol: GORASP1
  hgvsc: ENST00000493938.1:n.149+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000395709
  ensembl transcript: ENST00000422110
  gene symbol: GORASP1
  hgvsc: ENST00000422110.2:c.63+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000488479
  gene symbol: GORASP1
  hgvsc: ENST00000488479.1:n.136+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403167
  ensembl transcript: ENST00000452389
  gene symbol: GORASP1
  hgvsc: ENST00000452389.2:c.63+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000441302
  gene symbol: GORASP1
  hgvsc: ENST00000441302.2:n.160+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493851
  gene symbol: GORASP1
  hgvsc: ENST00000493851.1:n.107+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000411104
  ensembl transcript: ENST00000441081
  gene symbol: GORASP1
  hgvsc: ENST00000441081.1:c.63+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000405976
  ensembl transcript: ENST00000416741
  gene symbol: GORASP1
  hgvsc: ENST00000416741.1:c.-295C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403552
  ensembl transcript: ENST00000431601
  gene symbol: GORASP1
  hgvsc: ENST00000431601.1:c.-276C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000492064
  gene symbol: GORASP1
  hgvsc: ENST00000492064.1:n.133+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000419123
  ensembl transcript: ENST00000479927
  gene symbol: GORASP1
  hgvsc: ENST00000479927.1:c.63+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000313869
  ensembl transcript: ENST00000319283
  gene symbol: GORASP1
  hgvsc: ENST00000319283.3:c.63+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000493751
  gene symbol: GORASP1
  hgvsc: ENST00000493751.1:n.149+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000403994
  ensembl transcript: ENST00000413243
  gene symbol: GORASP1
  hgvsc: ENST00000413243.1:c.63+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl protein: ENSP00000392020
  ensembl transcript: ENST00000453680
  gene symbol: GORASP1
  hgvsc: ENST00000453680.1:c.63+372C>T
  variant of: http://identifiers.org/hgnc/16769
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114745
  ensembl transcript: ENST00000473827
  gene symbol: GORASP1
  hgvsc: ENST00000473827.1:n.133+372C>T
  variant of: http://identifiers.org/hgnc/16769
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg23Arg
num of homozygotes: 7
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

3-39148601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39148601
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 39148601
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 12228
alternate allele: A
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
hgvs: p.Gly22Gly
num of homozygotes: 0
reference allele: G

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000313869
ensembl transcript: ENST00000319283
gene symbol: GORASP1
hgvsc: ENST00000319283.3:c.145-26T>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395678
ensembl transcript: ENST00000427459
gene symbol: GORASP1
hgvsc: ENST00000427459.1:c.64-1805T>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 178
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5242
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2932
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12779
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23488
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11842
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 225
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1581
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4599
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5668
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7116
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24504
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.841e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

VQSLOD
type: SiteQuality
SIO_000300: -4.16e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.814757e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.55e-1

QD
type: SiteQuality
SIO_000300: 1.474e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000411104
ensembl transcript: ENST00000441081
gene symbol: GORASP1
hgvsc: ENST00000441081.1:c.139-32dupT
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000392020
ensembl transcript: ENST00000453680
gene symbol: GORASP1
hgvsc: ENST00000453680.1:c.145-32dupT
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 12755
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1583
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2933
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11823
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23463
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5238
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 179
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7119
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 24435
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5668
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495863805299125e-5
allele num: 66728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

FS
type: SiteQuality
SIO_000300: 1.2896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.814169e6

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

VQSLOD
type: SiteQuality
SIO_000300: -3.374e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.034e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.382e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000411104
ensembl transcript: ENST00000441081
gene symbol: GORASP1
hgvsc: ENST00000441081.1:c.139-33G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395709
ensembl transcript: ENST00000422110
gene symbol: GORASP1
hgvsc: ENST00000422110.2:c.64-1812G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11813
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12747
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 796
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1583
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2935
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5238
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23463
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4596
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5666
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24428
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7120
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9255
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

FS
type: SiteQuality
SIO_000300: 2.136e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.813907e6

QD
type: SiteQuality
SIO_000300: 1.471e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.163e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000419123
ensembl transcript: ENST00000479927
gene symbol: GORASP1
hgvsc: ENST00000479927.1:c.64-1830T>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000486133
gene symbol: GORASP1
hgvsc: ENST00000486133.1:n.254-51T>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 5227
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2930
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11709
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12727
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1583
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23399
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5660
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2615
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4416
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7128
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 169
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23385
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4589
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.978e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.689e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.811648e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000492064
gene symbol: GORASP1
hgvsc: ENST00000492064.1:n.214+48G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000486133
gene symbol: GORASP1
hgvsc: ENST00000486133.1:n.253+48G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000392020
ensembl transcript: ENST00000453680
gene symbol: GORASP1
hgvsc: ENST00000453680.1:c.144+48G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 23688
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3687
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1693
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2451
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12905
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 224
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2184
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 456
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2592
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3493
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3022
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2054
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8114
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1849
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31145
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12466
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.727e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.689918e6

FS
type: SiteQuality
SIO_000300: 2.923e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: -2.308e-1

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000403994
ensembl transcript: ENST00000413243
gene symbol: GORASP1
hgvsc: ENST00000413243.1:c.144+46G>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493851
gene symbol: GORASP1
hgvsc: ENST00000493851.1:n.188+46G>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493751
gene symbol: GORASP1
hgvsc: ENST00000493751.1:n.230+46G>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 2439
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 454
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2590
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12874
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1993
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 539
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8568
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1695
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23749
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3690
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2991
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2595
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3491
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31749
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8087
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12464
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.322340919647004e-4
allele num: 8612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.691181e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.523e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000392020
ensembl transcript: ENST00000453680
gene symbol: GORASP1
hgvsc: ENST00000453680.1:c.144+42_144+43delGT
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395241
ensembl transcript: ENST00000419156
gene symbol: GORASP1
hgvsc: ENST00000419156.1:c.39+42_39+43delGT
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000398673
ensembl transcript: ENST00000411813
gene symbol: GORASP1
hgvsc: ENST00000411813.1:c.144+42_144+43delGT
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 163
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8730
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12860
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2456
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23779
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2580
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3683
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1830
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32035
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3490
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1041
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536145503702111e-5
allele num: 65098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.503e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

QD
type: SiteQuality
SIO_000300: 7.06e0

DP
type: SiteQuality
SIO_000300: 1.691809e6

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000403167
ensembl transcript: ENST00000452389
gene symbol: GORASP1
hgvsc: ENST00000452389.2:c.144+37T>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000398673
ensembl transcript: ENST00000411813
gene symbol: GORASP1
hgvsc: ENST00000411813.1:c.144+37T>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000470910
gene symbol: GORASP1
hgvsc: ENST00000470910.1:n.182+37T>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1687
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2430
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2565
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1349
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9169
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23961
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12823
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3671
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 163
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 865
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32957
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8071
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1764
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2564
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534730961662421e-5
allele num: 65158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

FS
type: SiteQuality
SIO_000300: 4.181e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.193e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

DP
type: SiteQuality
SIO_000300: 1.69569e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 9.73e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000466443
gene symbol: GORASP1
hgvsc: ENST00000466443.1:n.161-2339G>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395709
ensembl transcript: ENST00000422110
gene symbol: GORASP1
hgvsc: ENST00000422110.2:c.64-2339G>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000392993
ensembl transcript: ENST00000437458
gene symbol: GORASP1
hgvsc: ENST00000437458.1:c.264+32G>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 2484
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2410
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 865
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1687
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1107
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24104
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12844
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9393
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3673
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 537
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8002
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2875
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3474
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12586
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65156
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 7.72e0

DP
type: SiteQuality
SIO_000300: 1.700198e6

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

FS
type: SiteQuality
SIO_000300: 3.745e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.85e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.017e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.41e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000486133
gene symbol: GORASP1
hgvsc: ENST00000486133.1:n.253+31T>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000488479
gene symbol: GORASP1
hgvsc: ENST00000488479.1:n.137-2340T>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000492064
gene symbol: GORASP1
hgvsc: ENST00000492064.1:n.214+31T>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 350
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9521
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12831
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 338
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2408
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24132
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3669
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 537
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2452
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1024
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1684
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 865
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3476
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2534
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8025
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.915451895043732e-4
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65222
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 1.245e0

DP
type: SiteQuality
SIO_000300: 1.701131e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.363e0

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

QD
type: SiteQuality
SIO_000300: 1.018e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000403167
ensembl transcript: ENST00000452389
gene symbol: GORASP1
hgvsc: ENST00000452389.2:c.144+15C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000492064
gene symbol: GORASP1
hgvsc: ENST00000492064.1:n.214+15C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000411104
ensembl transcript: ENST00000441081
gene symbol: GORASP1
hgvsc: ENST00000441081.1:c.138+15C>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 125
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 226
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12852
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 74
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10612
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3659
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 665
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24497
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1677
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1777
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2197
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 346
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2503
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3472
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 35195
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13320
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.22283024059185e-4
allele num: 65422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.396e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.26e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

MQ
type: SiteQuality
SIO_000300: 5.902e1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 7.292e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

DP
type: SiteQuality
SIO_000300: 1.718635e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493938
gene symbol: GORASP1
hgvsc: ENST00000493938.1:n.230+13A>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000470910
gene symbol: GORASP1
hgvsc: ENST00000470910.1:n.182+13A>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000405976
ensembl transcript: ENST00000416741
gene symbol: GORASP1
hgvsc: ENST00000416741.1:c.-76+13A>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 12818
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24567
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 848
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 225
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2145
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10774
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 73
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 103
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 151
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 702
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3645
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1702
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1661
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 74
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 158
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35107
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 715
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3348
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1704
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 258
bin: 5.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.522533495736906e-4
allele num: 6568
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.073027162916181e-4
allele num: 65236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.092e0

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

QD
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 9.370099999999999e1

DP
type: SiteQuality
SIO_000300: 1.717054e6

VQSLOD
type: SiteQuality
SIO_000300: -4.321e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493938
gene symbol: GORASP1
hgvsc: ENST00000493938.1:n.230+9C>G
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000403552
ensembl transcript: ENST00000431601
gene symbol: GORASP1
hgvsc: ENST00000431601.1:c.-76+9C>G
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000392993
ensembl transcript: ENST00000437458
gene symbol: GORASP1
hgvsc: ENST00000437458.1:c.264+9C>G
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 511
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11140
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1639
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12839
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1993
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24761
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 830
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3596
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 642
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1474
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2840
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526298116548124e-5
allele num: 65518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.535e0

FS
type: SiteQuality
SIO_000300: 1.294e0

VQSLOD
type: SiteQuality
SIO_000300: -2.309e0

QD
type: SiteQuality
SIO_000300: 9.99e0

MQRankSum
type: SiteQuality
SIO_000300: -2.606e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 1.720239e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000466443
gene symbol: GORASP1
hgvsc: ENST00000466443.1:n.161-2363C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000470910
gene symbol: GORASP1
hgvsc: ENST00000470910.1:n.182+8C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493851
gene symbol: GORASP1
hgvsc: ENST00000493851.1:n.188+8C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000492064
gene symbol: GORASP1
hgvsc: ENST00000492064.1:n.214+8C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000473827
gene symbol: GORASP1
hgvsc: ENST00000473827.1:n.134-2363C>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 1957
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24777
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 830
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11209
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1420
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1640
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 511
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 644
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3601
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12842
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35863
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8010
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525739220652406e-5
allele num: 65542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.721617e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.245e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000466443
gene symbol: GORASP1
hgvsc: ENST00000466443.1:n.161-2377G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493851
gene symbol: GORASP1
hgvsc: ENST00000493851.1:n.182G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493938
gene symbol: GORASP1
hgvsc: ENST00000493938.1:n.224G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000441302
gene symbol: GORASP1
hgvsc: ENST00000441302.2:n.235G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 665
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 511
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12487
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12872
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25502
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1139
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1631
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3574
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8137
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2809
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38026
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.574839413404436e-5
allele num: 66008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.382e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

QD
type: SiteQuality
SIO_000300: 1.139e1

DP
type: SiteQuality
SIO_000300: 1.746803e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000441302
gene symbol: GORASP1
hgvsc: ENST00000441302.2:n.234C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000470910
gene symbol: GORASP1
hgvsc: ENST00000470910.1:n.175C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000403552
ensembl transcript: ENST00000431601
gene symbol: GORASP1
hgvsc: ENST00000431601.1:c.-83C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000466443
gene symbol: GORASP1
hgvsc: ENST00000466443.1:n.161-2378C>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 510
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12589
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25552
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1068
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3570
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12879
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1627
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38220
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3363
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.611133148221606e-5
allele num: 15126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

FS
type: SiteQuality
SIO_000300: 5.87e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

DP
type: SiteQuality
SIO_000300: 1.74861e6

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395678
ensembl transcript: ENST00000427459
gene symbol: GORASP1
hgvsc: ENST00000427459.1:c.64-2378C>G
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000405976
ensembl transcript: ENST00000416741
gene symbol: GORASP1
hgvsc: ENST00000416741.1:c.-83C>G
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000419123
ensembl transcript: ENST00000479927
gene symbol: GORASP1
hgvsc: ENST00000479927.1:c.64-2378C>G
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000488479
gene symbol: GORASP1
hgvsc: ENST00000488479.1:n.137-2378C>G
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1068
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3570
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12589
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1627
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12879
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25552
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 510
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38220
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3363
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513821187441339e-5
allele num: 66058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.74861e6

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

QD
type: SiteQuality
SIO_000300: 1.347e1

FS
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000398673
ensembl transcript: ENST00000411813
gene symbol: GORASP1
hgvsc: ENST00000411813.1:c.128T>C
hgvsp: ENSP00000398673.1:p.Ile43Thr
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000469471
gene symbol: GORASP1
hgvsc: ENST00000469471.1:n.217T>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395709
ensembl transcript: ENST00000422110
gene symbol: GORASP1
hgvsc: ENST00000422110.2:c.64-2387T>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000405976
ensembl transcript: ENST00000416741
gene symbol: GORASP1
hgvsc: ENST00000416741.1:c.-92T>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 756
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 510
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3572
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12876
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25753
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12978
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 201
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1626
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2523
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3364
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.407791874919902e-5
allele num: 15606
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

QD
type: SiteQuality
SIO_000300: 6.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.1e-1

DP
type: SiteQuality
SIO_000300: 1.756474e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000473827
gene symbol: GORASP1
hgvsc: ENST00000473827.1:n.134-2390C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395709
ensembl transcript: ENST00000422110
gene symbol: GORASP1
hgvsc: ENST00000422110.2:c.64-2390C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493751
gene symbol: GORASP1
hgvsc: ENST00000493751.1:n.211C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000441302
gene symbol: GORASP1
hgvsc: ENST00000441302.2:n.222C>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 333
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 510
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3572
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 705
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12877
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25801
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13038
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1625
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38966
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3361
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1701
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509388395822013e-5
allele num: 66252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.841e0

FS
type: SiteQuality
SIO_000300: 2.259e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

QD
type: SiteQuality
SIO_000300: 1.068e1

DP
type: SiteQuality
SIO_000300: 1.757904e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000405976
ensembl transcript: ENST00000416741
gene symbol: GORASP1
hgvsc: ENST00000416741.1:c.-100C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000469471
gene symbol: GORASP1
hgvsc: ENST00000469471.1:n.209C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000466443
gene symbol: GORASP1
hgvsc: ENST00000466443.1:n.161-2395C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000392020
ensembl transcript: ENST00000453680
gene symbol: GORASP1
hgvsc: ENST00000453680.1:c.120C>T
hgvsp: ENST00000453680.1:c.120C>T(p.%3D)
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 822
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 637
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3570
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 25868
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 328
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12879
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 13099
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1626
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39090
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.524613899613899e-5
allele num: 66304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.433747149733975e-4
allele num: 15788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.124e1

DP
type: SiteQuality
SIO_000300: 1.759937e6

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

FS
type: SiteQuality
SIO_000300: 2.436e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.733e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395678
ensembl transcript: ENST00000427459
gene symbol: GORASP1
hgvsc: ENST00000427459.1:c.64-2397A>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395241
ensembl transcript: ENST00000419156
gene symbol: GORASP1
hgvsc: ENST00000419156.1:c.13A>C
hgvsp: ENSP00000395241.1:p.Ile5Leu
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493938
gene symbol: GORASP1
hgvsc: ENST00000493938.1:n.204A>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000488479
gene symbol: GORASP1
hgvsc: ENST00000488479.1:n.137-2397A>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1627
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25884
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 608
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 510
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13132
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3568
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12883
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 165
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3360
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2800
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39137
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507886245061673e-5
allele num: 66318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.286e1

MQ
type: SiteQuality
SIO_000300: 5.855e1

DP
type: SiteQuality
SIO_000300: 1.760469e6

MQRankSum
type: SiteQuality
SIO_000300: -4.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.177e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493938
gene symbol: GORASP1
hgvsc: ENST00000493938.1:n.190_196delCCTACTT
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000466443
gene symbol: GORASP1
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493851
gene symbol: GORASP1
hgvsc: ENST00000493851.1:n.148_154delCCTACTT
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493751
gene symbol: GORASP1
hgvsc: ENST00000493751.1:n.190_196delCCTACTT
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 510
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1625
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3565
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25960
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 544
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12876
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13179
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3359
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 978
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39296
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507022725902707e-5
allele num: 66356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 6.41e0

DP
type: SiteQuality
SIO_000300: 1.76194e6

FS
type: SiteQuality
SIO_000300: 3.873e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.179e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.36e-1

MQ
type: SiteQuality
SIO_000300: 5.141e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493851
gene symbol: GORASP1
hgvsc: ENST00000493851.1:n.154T>G
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493938
gene symbol: GORASP1
hgvsc: ENST00000493938.1:n.196T>G
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395709
ensembl transcript: ENST00000422110
gene symbol: GORASP1
hgvsc: ENST00000422110.2:c.64-2405T>G
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493751
gene symbol: GORASP1
hgvsc: ENST00000493751.1:n.196T>G
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 12878
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1623
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25960
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 537
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13186
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 509
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3565
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 74
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3360
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2508
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8193
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.534886524608939e-5
allele num: 66358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 2.451e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

DP
type: SiteQuality
SIO_000300: 1.762167e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000441302
gene symbol: GORASP1
hgvsc: ENST00000441302.2:n.205C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493938
gene symbol: GORASP1
hgvsc: ENST00000493938.1:n.194C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000492064
gene symbol: GORASP1
hgvsc: ENST00000492064.1:n.178C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000470910
gene symbol: GORASP1
hgvsc: ENST00000470910.1:n.146C>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 523
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3562
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 509
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12881
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25973
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13201
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1624
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3355
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66368
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.637e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.547e0

FS
type: SiteQuality
SIO_000300: 1.0432e1

DP
type: SiteQuality
SIO_000300: 1.762344e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.1e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395678
ensembl transcript: ENST00000427459
gene symbol: GORASP1
hgvsc: ENST00000427459.1:c.64-2414A>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000486133
gene symbol: GORASP1
hgvsc: ENST00000486133.1:n.210A>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000470910
gene symbol: GORASP1
hgvsc: ENST00000470910.1:n.139A>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 528
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 509
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25981
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 820
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13092
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12885
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1623
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3563
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3354
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39189
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.259389083625437e-5
allele num: 15976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.604e0

VQSLOD
type: SiteQuality
SIO_000300: -3.305e-1

DP
type: SiteQuality
SIO_000300: 1.761715e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000473827
gene symbol: GORASP1
hgvsc: ENST00000473827.1:n.134-2415G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000492064
gene symbol: GORASP1
hgvsc: ENST00000492064.1:n.170G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000466443
gene symbol: GORASP1
hgvsc: ENST00000466443.1:n.161-2415G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25975
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 509
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13063
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1623
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3565
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12885
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3354
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39133
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.264094211976948e-5
allele num: 15964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.306e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.761456e6

MQRankSum
type: SiteQuality
SIO_000300: -2.126e0

QD
type: SiteQuality
SIO_000300: 8.26e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000403552
ensembl transcript: ENST00000431601
gene symbol: GORASP1
hgvsc: ENST00000431601.1:c.-124C>G
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000473827
gene symbol: GORASP1
hgvsc: ENST00000473827.1:n.134-2419C>G
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000469471
gene symbol: GORASP1
hgvsc: ENST00000469471.1:n.185C>G
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3567
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1622
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12999
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25992
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 509
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 820
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12885
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3353
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2782
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39139
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8161
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.577e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
SIO_000300: 1.761136e6

MQ
type: SiteQuality
SIO_000300: 5.93e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395709
ensembl transcript: ENST00000422110
gene symbol: GORASP1
hgvsc: ENST00000422110.2:c.64-2422G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000405976
ensembl transcript: ENST00000416741
gene symbol: GORASP1
hgvsc: ENST00000416741.1:c.-127G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000492064
gene symbol: GORASP1
hgvsc: ENST00000492064.1:n.163G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12889
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1625
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 511
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3564
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 826
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12880
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25997
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 74
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39072
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.048408988086261e-5
allele num: 66310
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.760504e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.236e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000486133
gene symbol: GORASP1
hgvsc: ENST00000486133.1:n.201C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000469471
gene symbol: GORASP1
hgvsc: ENST00000469471.1:n.181C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000419123
ensembl transcript: ENST00000479927
gene symbol: GORASP1
hgvsc: ENST00000479927.1:c.64-2423C>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 484
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 816
bin: 4.75e1
variant carriers: 46

GenotypeDepth
all individuals: 583
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3515
bin: 3.75e1
variant carriers: 24

GenotypeDepth
all individuals: 197
bin: 9.75e1
variant carriers: 48

GenotypeDepth
all individuals: 178
bin: 6.75e1
variant carriers: 42

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 5.75e1
variant carriers: 49

GenotypeDepth
all individuals: 244
bin: 6.25e1
variant carriers: 44

GenotypeDepth
all individuals: 12755
bin: 2.25e1
variant carriers: 10

GenotypeDepth
all individuals: 25972
bin: 2.75e1
variant carriers: 12

GenotypeDepth
all individuals: 12814
bin: 3.25e1
variant carriers: 20

GenotypeDepth
all individuals: 213
bin: 1.75e1
variant carriers: 5

GenotypeDepth
all individuals: 1602
bin: 4.25e1
variant carriers: 43

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 17

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 30

GenotypeDepth
all individuals: 517
bin: 5.25e1
variant carriers: 45

GenotypeDepth
all individuals: 89
bin: 8.25e1
variant carriers: 27

GenotypeDepth
all individuals: 140
bin: 7.25e1
variant carriers: 43

GenotypeDepth
all individuals: 74
bin: 8.75e1
variant carriers: 20

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38899
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8089
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 705
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3607
bin: 9.75e1
variant carriers: 524

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 450
allele frequency: 6.787739833474116e-3
allele num: 66296
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.605381165919282e-3
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 1.84072854098043e-3
allele num: 10322
num of homozygotes: 0

Latino
type: Population
allele count: 24
allele frequency: 2.078281953585036e-3
allele num: 11548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.06318347509113e-3
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.380695368394628e-3
allele num: 15934
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

FS
type: SiteQuality
SIO_000300: 5.32e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 1.771775e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493938
gene symbol: GORASP1
hgvsc: ENST00000493938.1:n.177G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395709
ensembl transcript: ENST00000422110
gene symbol: GORASP1
hgvsc: ENST00000422110.2:c.64-2424G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000488479
gene symbol: GORASP1
hgvsc: ENST00000488479.1:n.137-2424G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 202
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26213
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12837
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 779
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12907
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 588
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1566
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3517
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2770
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 9.62e-1

DP
type: SiteQuality
SIO_000300: 1.753609e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.121e0

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395678
ensembl transcript: ENST00000427459
gene symbol: GORASP1
hgvsc: ENST00000427459.1:c.64-2433G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000419123
ensembl transcript: ENST00000479927
gene symbol: GORASP1
hgvsc: ENST00000479927.1:c.64-2433G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000469471
gene symbol: GORASP1
hgvsc: ENST00000469471.1:n.171G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26155
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12897
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 837
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 779
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 740
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12297
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3519
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1564
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8087
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1661
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021695775669306e-5
allele num: 66188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.823e1

DP
type: SiteQuality
SIO_000300: 1.74702e6

VQSLOD
type: SiteQuality
SIO_000300: -1.745e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.981e0

MQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493851
gene symbol: GORASP1
hgvsc: ENST00000493851.1:n.114G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493751
gene symbol: GORASP1
hgvsc: ENST00000493751.1:n.156G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000486133
gene symbol: GORASP1
hgvsc: ENST00000486133.1:n.179G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 1563
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11456
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12814
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25875
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3504
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1035
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 780
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 527
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1529
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 138
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7963
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3104
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2406
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37749
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15434
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.308e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.317e1

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

DP
type: SiteQuality
SIO_000300: 1.732323e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.191e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395678
ensembl transcript: ENST00000427459
gene symbol: GORASP1
hgvsc: ENST00000427459.1:c.64-2447A>G
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000488479
gene symbol: GORASP1
hgvsc: ENST00000488479.1:n.137-2447A>G
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000419123
ensembl transcript: ENST00000479927
gene symbol: GORASP1
hgvsc: ENST00000479927.1:c.64-2447A>G
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12798
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 779
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1561
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11283
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1085
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1686
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 139
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3498
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25813
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 475
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 37567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2712
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3106
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.579202667879339e-5
allele num: 65970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15380
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

FS
type: SiteQuality
SIO_000300: 1.209e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 1.729089e6

Annotation
canonical: false
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000403552
ensembl transcript: ENST00000431601
gene symbol: GORASP1
hgvsc: ENST00000431601.1:c.-155T>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000473827
gene symbol: GORASP1
hgvsc: ENST00000473827.1:n.134-2450T>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000469471
gene symbol: GORASP1
hgvsc: ENST00000469471.1:n.154T>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: true
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000313869
ensembl transcript: ENST00000319283
gene symbol: GORASP1
hgvsc: ENST00000319283.3:c.65T>A
hgvsp: ENSP00000313869.3:p.Val22Glu
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 3494
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2084
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12777
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 779
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25622
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 684
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1560
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1189
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10886
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2406
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36888
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 311
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7863
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517358582180141e-5
allele num: 65904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.721487e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 1.097e0

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000405976
ensembl transcript: ENST00000416741
gene symbol: GORASP1
hgvsc: ENST00000416741.1:c.-156G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000488479
gene symbol: GORASP1
hgvsc: ENST00000488479.1:n.137-2451G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395678
ensembl transcript: ENST00000427459
gene symbol: GORASP1
hgvsc: ENST00000427459.1:c.64-2451G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000492064
gene symbol: GORASP1
hgvsc: ENST00000492064.1:n.134G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395709
ensembl transcript: ENST00000422110
gene symbol: GORASP1
hgvsc: ENST00000422110.2:c.64-2451G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 675
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25625
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10889
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3493
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2086
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12776
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 778
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1192
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1560
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37011
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7842
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3097
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2411
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65878
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.565126050420168e-5
allele num: 15232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

FS
type: SiteQuality
SIO_000300: 4.259e0

QD
type: SiteQuality
SIO_000300: 1.445e1

DP
type: SiteQuality
SIO_000300: 1.721499e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.482e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000470910
gene symbol: GORASP1
hgvsc: ENST00000470910.1:n.102-5G>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395709
ensembl transcript: ENST00000422110
gene symbol: GORASP1
hgvsc: ENST00000422110.2:c.64-2456G>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000403167
ensembl transcript: ENST00000452389
gene symbol: GORASP1
hgvsc: ENST00000452389.2:c.64-5G>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000473827
gene symbol: GORASP1
hgvsc: ENST00000473827.1:n.134-2456G>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 778
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10411
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25295
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 828
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2632
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1335
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3492
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1558
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12719
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2868
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3097
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 215
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2668
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36202
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2325
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.332090049287332e-4
allele num: 15014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.787e0

DP
type: SiteQuality
SIO_000300: 1.710536e6

FS
type: SiteQuality
SIO_000300: 1.9469e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

QD
type: SiteQuality
SIO_000300: 1.06e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000466443
gene symbol: GORASP1
hgvsc: ENST00000466443.1:n.161-2456G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000419123
ensembl transcript: ENST00000479927
gene symbol: GORASP1
hgvsc: ENST00000479927.1:c.64-2456G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000411104
ensembl transcript: ENST00000441081
gene symbol: GORASP1
hgvsc: ENST00000441081.1:c.64-11G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000395709
ensembl transcript: ENST00000422110
gene symbol: GORASP1
hgvsc: ENST00000422110.2:c.64-2456G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 12719
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 25295
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1335
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3492
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 778
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1558
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10411
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 828
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2632
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2868
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2668
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2325
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36202
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3097
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 379
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.561766315917523e-5
allele num: 65764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15014
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

QD
type: SiteQuality
SIO_000300: 1.06e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.9469e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

DP
type: SiteQuality
SIO_000300: 1.710536e6

VQSLOD
type: SiteQuality
SIO_000300: -2.787e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000469471
gene symbol: GORASP1
hgvsc: ENST00000469471.1:n.153-19G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000313869
ensembl transcript: ENST00000319283
gene symbol: GORASP1
hgvsc: ENST00000319283.3:c.64-19G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3445
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1552
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8359
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1805
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 773
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1851
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5052
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23739
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1563
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32935
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7269
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.381788033715628e-4
allele num: 14474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.061849357011635e-5
allele num: 65320
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.814e0

FS
type: SiteQuality
SIO_000300: 2.246e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

DP
type: SiteQuality
SIO_000300: 1.660453e6

QD
type: SiteQuality
SIO_000300: 1.413e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000392020
ensembl transcript: ENST00000453680
gene symbol: GORASP1
hgvsc: ENST00000453680.1:c.64-21G>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000398673
ensembl transcript: ENST00000411813
gene symbol: GORASP1
hgvsc: ENST00000411813.1:c.64-21G>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 200
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5817
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1553
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23046
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3427
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12127
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7798
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1881
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 774
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2505
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 230
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4820
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 924
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532707988474036e-5
allele num: 65244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.762e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.641749e6

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000405976
ensembl transcript: ENST00000416741
gene symbol: GORASP1
hgvsc: ENST00000416741.1:c.-156-24A>G
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000392993
ensembl transcript: ENST00000437458
gene symbol: GORASP1
hgvsc: ENST00000437458.1:c.184-24A>G
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 200
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6472
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1944
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 774
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3396
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22315
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3108
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1548
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7520
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 11815
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7010
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 922
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30220
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2123
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.999860002799944e-5
allele num: 14286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.447e0

DP
type: SiteQuality
SIO_000300: 1.623168e6

QD
type: SiteQuality
SIO_000300: 2.787e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000405976
ensembl transcript: ENST00000416741
gene symbol: GORASP1
hgvsc: ENST00000416741.1:c.-156-26T>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000488479
gene symbol: GORASP1
hgvsc: ENST00000488479.1:n.137-2477T>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 1546
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3994
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7063
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 774
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7211
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11422
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3345
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2040
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21468
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6838
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1782
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28542
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3077
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536051119781266e-5
allele num: 65102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.373e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.602036e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: -7.593e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000392993
ensembl transcript: ENST00000437458
gene symbol: GORASP1
hgvsc: ENST00000437458.1:c.184-30G>A
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000405976
ensembl transcript: ENST00000416741
gene symbol: GORASP1
hgvsc: ENST00000416741.1:c.-156-30G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 200
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5674
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 773
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10696
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2175
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 474
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20051
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7743
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1531
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3270
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6901
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 668
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5781
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6549
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2299
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26442
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2418
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3074
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3489
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.219174126479931e-5
allele num: 13852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.706772711859182e-5
allele num: 64878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 2.709e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

DP
type: SiteQuality
SIO_000300: 1.567849e6

QD
type: SiteQuality
SIO_000300: 1.341e1

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000403552
ensembl transcript: ENST00000431601
gene symbol: GORASP1
hgvsc: ENST00000431601.1:c.-156-38G>C
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000405976
ensembl transcript: ENST00000416741
gene symbol: GORASP1
hgvsc: ENST00000416741.1:c.-156-38G>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2638
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1488
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8224
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15335
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2950
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11729
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7217
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 764
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 388
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8379
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3039
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5305
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5195
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4724
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18970
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6226
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.637130801687763e-4
allele num: 11376
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.469231e6

QD
type: SiteQuality
SIO_000300: 1.156e1

MQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.126e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000403552
ensembl transcript: ENST00000431601
gene symbol: GORASP1
hgvsc: ENST00000431601.1:c.-156-52C>T
variant of: http://identifiers.org/hgnc/16769

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000392020
ensembl transcript: ENST00000453680
gene symbol: GORASP1
hgvsc: ENST00000453680.1:c.64-52C>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 5427
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3378
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1445
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2694
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8188
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13830
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 756
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10146
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12830
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1638
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5286
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3048
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5897
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3244
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6871
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6292
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4957
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583481124904991e-5
allele num: 63152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12644
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.896e1

VQSLOD
type: SiteQuality
SIO_000300: -2.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 9.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.394242e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.973e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000403994
ensembl transcript: ENST00000413243
gene symbol: GORASP1
hgvsc: ENST00000413243.1:c.63+525C>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 0
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2051
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2916
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6590
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 376
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 527
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2438
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5366
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.910360884749709e-4
allele num: 3436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.15e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 8.1019e4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.939e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000403552
ensembl transcript: ENST00000431601
gene symbol: GORASP1
hgvsc: ENST00000431601.1:c.-157+10G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 4233
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1316
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2379
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1986
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 177
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.147766323024055e-4
allele num: 4656
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.96e-1

QD
type: SiteQuality
SIO_000300: 5.49e0

DP
type: SiteQuality
SIO_000300: 1.01004e5

VQSLOD
type: SiteQuality
SIO_000300: -2.533e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.82e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000441302
gene symbol: GORASP1
hgvsc: ENST00000441302.2:n.160+492dupG
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 932
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3948
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1932
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2738
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 468
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1882
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3482
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.872966692486445e-4
allele num: 2582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

QD
type: SiteQuality
SIO_000300: 1.049e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.58e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 1.13118e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000473827
gene symbol: GORASP1
hgvsc: ENST00000473827.1:n.133+474C>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 272
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3091
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3428
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1064
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 470
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 973
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3670
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2656
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 9.168704156479218e-4
allele num: 6544
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 4.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.61e-2

DP
type: SiteQuality
SIO_000300: 1.31082e5

QD
type: SiteQuality
SIO_000300: 1.495e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493938
gene symbol: GORASP1
hgvsc: ENST00000493938.1:n.149+449dupA
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 1574
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3166
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3969
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2857
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.350986219940557e-4
allele num: 7402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3434
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.84e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.11e-1

FS
type: SiteQuality
SIO_000300: 1.288e0

MQ
type: SiteQuality
SIO_000300: 6.042e1

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 1.49589e5

MQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000473827
gene symbol: GORASP1
hgvsc: ENST00000473827.1:n.133+448C>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1592
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4008
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3182
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2861
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4935
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.343724805159903e-4
allele num: 7442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3456
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.94e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

DP
type: SiteQuality
SIO_000300: 1.50148e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.252e1

VQSLOD
type: SiteQuality
SIO_000300: -4.477e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.502e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000470910
gene symbol: GORASP1
hgvsc: ENST00000470910.1:n.101+429G>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4055
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1708
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3375
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 552
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5087
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.792114695340502e-3
allele num: 558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3532
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

QD
type: SiteQuality
SIO_000300: 1.008e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.19e-2

FS
type: SiteQuality
SIO_000300: 4.748e0

VQSLOD
type: SiteQuality
SIO_000300: -8.0e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

DP
type: SiteQuality
SIO_000300: 1.53536e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493751
gene symbol: GORASP1
hgvsc: ENST00000493751.1:n.149+424G>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1719
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4071
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3430
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5110
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.792114695340502e-3
allele num: 558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.631e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.086e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.49e-1

FS
type: SiteQuality
SIO_000300: 5.13e0

DP
type: SiteQuality
SIO_000300: 1.54077e5

QD
type: SiteQuality
SIO_000300: 1.25e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000466443
gene symbol: GORASP1
hgvsc: ENST00000466443.1:n.160+413G>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4083
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1728
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3522
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5131
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3572
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.260389268805891e-4
allele num: 7604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.667e-1

FS
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.5478e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.26e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000473827
gene symbol: GORASP1
hgvsc: ENST00000473827.1:n.133+400C>A
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 0
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4085
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3543
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1736
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3284
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.314751511964239e-4
allele num: 7606
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.818e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.473e0

QD
type: SiteQuality
SIO_000300: 1.03e1

VQSLOD
type: SiteQuality
SIO_000300: -1.455e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.55207e5

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000403994
ensembl transcript: ENST00000413243
gene symbol: GORASP1
hgvsc: ENST00000413243.1:c.63+395A>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 236
bin: 7.5e0
variant carriers: 9

GenotypeDepth
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3477
bin: 2.5e0
variant carriers: 8

GenotypeDepth
all individuals: 259
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4067
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 16
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1739
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3215
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 0
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 132
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 131
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5135
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.575757575757576e-3
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.257623554153522e-4
allele num: 7608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 8.333333333333333e-2
allele num: 12
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 4.178272980501393e-3
allele num: 3590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.226e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 5.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

DP
type: SiteQuality
SIO_000300: 1.5615e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000493938
gene symbol: GORASP1
hgvsc: ENST00000493938.1:n.149+388T>C
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 3453
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 228
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1750
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4054
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3219
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5130
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 14
allele frequency: 1.840168243953733e-3
allele num: 7608
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.434782608695652e-3
allele num: 184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.16e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

FS
type: SiteQuality
SIO_000300: 2.507e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 9.15e0

DP
type: SiteQuality
SIO_000300: 1.55682e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl protein: ENSP00000419123
ensembl transcript: ENST00000479927
gene symbol: GORASP1
hgvsc: ENST00000479927.1:c.63+380G>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 4038
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1759
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3299
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 151
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3033
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5124
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.120448179271709e-3
allele num: 3570
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.168e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.95e-2

FS
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 1.54748e5

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.474e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.327e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000114745
ensembl transcript: ENST00000466443
gene symbol: GORASP1
hgvsc: ENST00000466443.1:n.160+372C>T
variant of: http://identifiers.org/hgnc/16769

GenotypeDepth
all individuals: 35
bin: 5.75e1
variant carriers: 34

GenotypeDepth
all individuals: 28
bin: 4.75e1
variant carriers: 21

GenotypeDepth
all individuals: 24
bin: 7.75e1
variant carriers: 24

GenotypeDepth
all individuals: 3006
bin: 2.5e0
variant carriers: 19

GenotypeDepth
all individuals: 1648
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 203
bin: 7.5e0
variant carriers: 15

GenotypeDepth
all individuals: 40
bin: 7.25e1
variant carriers: 40

GenotypeDepth
all individuals: 27
bin: 4.25e1
variant carriers: 17

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 29

GenotypeDepth
all individuals: 35
bin: 5.25e1
variant carriers: 30

GenotypeDepth
all individuals: 7
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 28
bin: 3.75e1
variant carriers: 8

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 21

GenotypeDepth
all individuals: 230
bin: 3.25e1
variant carriers: 5

GenotypeDepth
all individuals: 29
bin: 6.25e1
variant carriers: 28

GenotypeDepth
all individuals: 21
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3815
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 49
bin: 9.75e1
variant carriers: 49

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 20

GenotypeDepth
all individuals: 36
bin: 6.75e1
variant carriers: 36

GenotypeQuality
all individuals: 49
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2620
bin: 7.5e0
variant carriers: 14

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 13
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 408
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 117
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 402
bin: 9.75e1
variant carriers: 371

GenotypeQuality
all individuals: 104
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 493
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 1

East Asian
type: Population
allele count: 24
allele frequency: 1.2e-1
allele num: 200
num of homozygotes: 2

Other
type: Population
allele count: 3
allele frequency: 2.272727272727273e-2
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 9.831460674157303e-3
allele num: 3560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 40
allele frequency: 7.092198581560284e-2
allele num: 564
num of homozygotes: 2

South Asian
type: Population
allele count: 268
allele frequency: 3.527244011581995e-2
allele num: 7598
num of homozygotes: 3

Latino
type: Population
allele count: 7
allele frequency: 3.804347826086957e-2
allele num: 184
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.91e-2

DP
type: SiteQuality
SIO_000300: 1.71118e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.037e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.181e1

FS
type: SiteQuality
SIO_000300: 5.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1