17-27044221-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044221
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044221
    reference: chr 17
allele count: 1
allele frequency: 1.459726155373252e-5
allele num: 68506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.54+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.495+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.54+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.54+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.54+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.54+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.225+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.54+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+919G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.54+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.259+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.54+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.54+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.54+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.225+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.54+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.54+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.54+10G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+919G>C
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

17-27044224-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044224
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044224
    reference: chr 17
allele count: 1
allele frequency: 1.421100500227376e-5
allele num: 70368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.54+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.54+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.54+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.225+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.54+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.54+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.259+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.54+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.54+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.54+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.54+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.54+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.225+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.54+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.495+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.54+7G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+916G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+916G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.54+7G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.225+7G>A
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

17-27044232-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044232
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044231
    reference: chr 17
allele count: 1
allele frequency: 1.318634949100691e-5
allele num: 75836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.52delC
  hgvsp: ENSP00000378663.2:p.Gln18SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.52delC
  hgvsp: ENSP00000226259.6:p.Gln18SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.52delC
  hgvsp: ENSP00000404180.3:p.Gln18SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.52delC
  hgvsp: ENSP00000301043.6:p.Gln18SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.52delC
  hgvsp: ENSP00000397499.2:p.Gln18SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.52delC
  hgvsp: ENSP00000398706.1:p.Gln18SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.52delC
  hgvsp: ENSP00000476427.1:p.Gln18SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+907delC
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.52delC
  hgvsp: ENSP00000378664.3:p.Gln18SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.52delC
  hgvsp: ENSP00000378666.3:p.Gln18SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.223delC
  hgvsp: ENSP00000413156.3:p.Gln75SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.52delC
  hgvsp: ENSP00000465352.1:p.Gln18SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.52delC
  hgvsp: ENSP00000464723.1:p.Gln18SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.223delC
  hgvsp: ENSP00000410403.1:p.Gln75SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.493delC
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.52delC
  hgvsp: ENSP00000391048.1:p.Gln18SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.257delC
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.52delC
  hgvsp: ENSP00000410279.2:p.Gln18SerfsTer3
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln75SerfsTer3
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: TG
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

17-27044237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044237
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044237
    reference: chr 17
allele count: 1007
allele frequency: 1.297346044833806e-2
allele num: 77620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+903G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.48G>A
  hgvsp: ENST00000395242.2:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.48G>A
  hgvsp: ENST00000415040.2:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.48G>A
  hgvsp: ENST00000412625.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.48G>A
  hgvsp: ENST00000582934.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.48G>A
  hgvsp: ENST00000436730.3:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.48G>A
  hgvsp: ENST00000580843.2:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.48G>A
  hgvsp: ENST00000395245.3:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.219G>A
  hgvsp: ENST00000447716.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.48G>A
  hgvsp: ENST00000301043.6:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.48G>A
  hgvsp: ENST00000422279.2:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+903G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.48G>A
  hgvsp: ENST00000395243.3:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.253G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.219G>A
  hgvsp: ENST00000453384.3:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.48G>A
  hgvsp: ENST00000353676.5:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.48G>A
  hgvsp: ENST00000419712.3:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.489G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.48G>A
  hgvsp: ENST00000450529.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu73Leu
num of homozygotes: 12
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

17-27044238-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044238
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044238
    reference: chr 17
allele count: 1
allele frequency: 1.283268742139979e-5
allele num: 77926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.47T>C
  hgvsp: ENSP00000464723.1:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.47T>C
  hgvsp: ENSP00000410279.2:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.47T>C
  hgvsp: ENSP00000476427.1:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.47T>C
  hgvsp: ENSP00000398706.1:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.218T>C
  hgvsp: ENSP00000410403.1:p.Leu73Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.47T>C
  hgvsp: ENSP00000404180.3:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.47T>C
  hgvsp: ENSP00000378663.2:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.47T>C
  hgvsp: ENSP00000378666.3:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.47T>C
  hgvsp: ENSP00000301043.6:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+902T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.47T>C
  hgvsp: ENSP00000378664.3:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.488T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.218T>C
  hgvsp: ENSP00000413156.3:p.Leu73Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+902T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.47T>C
  hgvsp: ENSP00000397499.2:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.47T>C
  hgvsp: ENSP00000465352.1:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.252T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.47T>C
  hgvsp: ENSP00000226259.6:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.47T>C
  hgvsp: ENSP00000391048.1:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu73Pro
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-27044242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044242
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044242
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 79048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.248G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.43G>A
  hgvsp: ENSP00000404180.3:p.Glu15Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.43G>A
  hgvsp: ENSP00000464723.1:p.Glu15Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+898G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.43G>A
  hgvsp: ENSP00000301043.6:p.Glu15Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.43G>A
  hgvsp: ENSP00000476427.1:p.Glu15Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.43G>A
  hgvsp: ENSP00000397499.2:p.Glu15Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.43G>A
  hgvsp: ENSP00000378666.3:p.Glu15Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.484G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.43G>A
  hgvsp: ENSP00000378664.3:p.Glu15Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.43G>A
  hgvsp: ENSP00000226259.6:p.Glu15Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.43G>A
  hgvsp: ENSP00000465352.1:p.Glu15Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.43G>A
  hgvsp: ENSP00000398706.1:p.Glu15Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.214G>A
  hgvsp: ENSP00000413156.3:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.43G>A
  hgvsp: ENSP00000410279.2:p.Glu15Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.43G>A
  hgvsp: ENSP00000391048.1:p.Glu15Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.43G>A
  hgvsp: ENSP00000378663.2:p.Glu15Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.214G>A
  hgvsp: ENSP00000410403.1:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+898G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu72Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/17-27044243-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044243
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044243
    reference: chr 17
allele count: 5
allele frequency: 6.311696836577545e-5
allele num: 79218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+897G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.42G>T
  hgvsp: ENST00000353676.5:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.42G>T
  hgvsp: ENST00000412625.1:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.42G>T
  hgvsp: ENST00000450529.1:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.42G>T
  hgvsp: ENST00000419712.3:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.213G>T
  hgvsp: ENST00000453384.3:c.213G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.42G>T
  hgvsp: ENST00000395242.2:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.483G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.42G>T
  hgvsp: ENST00000582934.1:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.213G>T
  hgvsp: ENST00000447716.1:c.213G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.42G>T
  hgvsp: ENST00000422279.2:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.42G>T
  hgvsp: ENST00000395243.3:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.42G>T
  hgvsp: ENST00000436730.3:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.42G>T
  hgvsp: ENST00000395245.3:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.42G>T
  hgvsp: ENST00000415040.2:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.42G>T
  hgvsp: ENST00000301043.6:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+897G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.42G>T
  hgvsp: ENST00000580843.2:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.247G>T
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala71Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

17-27044247-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044247
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044246
    reference: chr 17
allele count: 1
allele frequency: 1.232468140698563e-5
allele num: 81138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.37delC
  hgvsp: ENSP00000476427.1:p.Leu13TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.37delC
  hgvsp: ENSP00000378666.3:p.Leu13TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.37delC
  hgvsp: ENSP00000378664.3:p.Leu13TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.37delC
  hgvsp: ENSP00000465352.1:p.Leu13TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.37delC
  hgvsp: ENSP00000404180.3:p.Leu13TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.37delC
  hgvsp: ENSP00000378663.2:p.Leu13TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.37delC
  hgvsp: ENSP00000226259.6:p.Leu13TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.478delC
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.208delC
  hgvsp: ENSP00000410403.1:p.Leu70TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.37delC
  hgvsp: ENSP00000398706.1:p.Leu13TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.37delC
  hgvsp: ENSP00000397499.2:p.Leu13TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.37delC
  hgvsp: ENSP00000464723.1:p.Leu13TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+892delC
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.208delC
  hgvsp: ENSP00000413156.3:p.Leu70TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.37delC
  hgvsp: ENSP00000301043.6:p.Leu13TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.242delC
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.37delC
  hgvsp: ENSP00000391048.1:p.Leu13TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+892delC
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.37delC
  hgvsp: ENSP00000410279.2:p.Leu13TrpfsTer8
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu70TrpfsTer8
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: AG
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

17-27044249-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044249
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044249
    reference: chr 17
allele count: 1
allele frequency: 1.229830775285321e-5
allele num: 81312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.36C>G
  hgvsp: ENST00000419712.3:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+891C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.207C>G
  hgvsp: ENST00000447716.1:c.207C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.36C>G
  hgvsp: ENST00000415040.2:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.36C>G
  hgvsp: ENST00000395243.3:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.36C>G
  hgvsp: ENST00000301043.6:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.36C>G
  hgvsp: ENST00000582934.1:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.36C>G
  hgvsp: ENST00000412625.1:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.36C>G
  hgvsp: ENST00000422279.2:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.36C>G
  hgvsp: ENST00000580843.2:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.36C>G
  hgvsp: ENST00000450529.1:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.36C>G
  hgvsp: ENST00000395242.2:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.207C>G
  hgvsp: ENST00000453384.3:c.207C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.36C>G
  hgvsp: ENST00000436730.3:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.36C>G
  hgvsp: ENST00000353676.5:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.36C>G
  hgvsp: ENST00000395245.3:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.241C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.477C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+891C>G
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val69Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-27044251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044251
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044251
    reference: chr 17
allele count: 1
allele frequency: 1.228652168571077e-5
allele num: 81390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.34G>A
  hgvsp: ENSP00000226259.6:p.Val12Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.34G>A
  hgvsp: ENSP00000301043.6:p.Val12Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.34G>A
  hgvsp: ENSP00000378666.3:p.Val12Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.34G>A
  hgvsp: ENSP00000404180.3:p.Val12Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.34G>A
  hgvsp: ENSP00000476427.1:p.Val12Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.34G>A
  hgvsp: ENSP00000398706.1:p.Val12Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.34G>A
  hgvsp: ENSP00000464723.1:p.Val12Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.239G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.34G>A
  hgvsp: ENSP00000378664.3:p.Val12Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.205G>A
  hgvsp: ENSP00000410403.1:p.Val69Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.34G>A
  hgvsp: ENSP00000410279.2:p.Val12Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+889G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.34G>A
  hgvsp: ENSP00000378663.2:p.Val12Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+889G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.34G>A
  hgvsp: ENSP00000397499.2:p.Val12Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.34G>A
  hgvsp: ENSP00000465352.1:p.Val12Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.205G>A
  hgvsp: ENSP00000413156.3:p.Val69Ile
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.475G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.34G>A
  hgvsp: ENSP00000391048.1:p.Val12Ile
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val69Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

17-27044254-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044254
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044254
    reference: chr 17
allele count: 1
allele frequency: 1.226572465901285e-5
allele num: 81528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.31C>A
  hgvsp: ENSP00000378666.3:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.31C>A
  hgvsp: ENSP00000301043.6:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.202C>A
  hgvsp: ENSP00000413156.3:p.Arg68Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.472C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+886C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.31C>A
  hgvsp: ENSP00000410279.2:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.31C>A
  hgvsp: ENSP00000464723.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.31C>A
  hgvsp: ENSP00000378664.3:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.236C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.202C>A
  hgvsp: ENSP00000410403.1:p.Arg68Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.31C>A
  hgvsp: ENSP00000226259.6:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.31C>A
  hgvsp: ENSP00000398706.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.31C>A
  hgvsp: ENSP00000476427.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.31C>A
  hgvsp: ENSP00000397499.2:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.31C>A
  hgvsp: ENSP00000465352.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.31C>A
  hgvsp: ENSP00000378663.2:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+886C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.31C>A
  hgvsp: ENSP00000404180.3:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.31C>A
  hgvsp: ENSP00000391048.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg68Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

17-27044257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044257
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044257
    reference: chr 17
allele count: 1
allele frequency: 1.22591085176286e-5
allele num: 81572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.28G>A
  hgvsp: ENSP00000476427.1:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.469G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.28G>A
  hgvsp: ENSP00000465352.1:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.199G>A
  hgvsp: ENSP00000413156.3:p.Asp67Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.28G>A
  hgvsp: ENSP00000378663.2:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.28G>A
  hgvsp: ENSP00000397499.2:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.233G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.28G>A
  hgvsp: ENSP00000410279.2:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.28G>A
  hgvsp: ENSP00000398706.1:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.28G>A
  hgvsp: ENSP00000464723.1:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.28G>A
  hgvsp: ENSP00000378664.3:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.28G>A
  hgvsp: ENSP00000378666.3:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.199G>A
  hgvsp: ENSP00000410403.1:p.Asp67Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.28G>A
  hgvsp: ENSP00000391048.1:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.28G>A
  hgvsp: ENSP00000404180.3:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.28G>A
  hgvsp: ENSP00000301043.6:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.28G>A
  hgvsp: ENSP00000226259.6:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+883G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+883G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp67Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-27044260-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044260
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044260
    reference: chr 17
allele count: 1
allele frequency: 1.237409359764397e-5
allele num: 80814
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.25A>G
  hgvsp: ENSP00000378664.3:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.25A>G
  hgvsp: ENSP00000391048.1:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.25A>G
  hgvsp: ENSP00000465352.1:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.196A>G
  hgvsp: ENSP00000410403.1:p.Arg66Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+880A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.25A>G
  hgvsp: ENSP00000301043.6:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.25A>G
  hgvsp: ENSP00000398706.1:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.25A>G
  hgvsp: ENSP00000397499.2:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.25A>G
  hgvsp: ENSP00000404180.3:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.25A>G
  hgvsp: ENSP00000378663.2:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.196A>G
  hgvsp: ENSP00000413156.3:p.Arg66Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.25A>G
  hgvsp: ENSP00000378666.3:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+880A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.230A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.25A>G
  hgvsp: ENSP00000410279.2:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.25A>G
  hgvsp: ENSP00000464723.1:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.25A>G
  hgvsp: ENSP00000476427.1:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.25A>G
  hgvsp: ENSP00000226259.6:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.466A>G
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg66Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-27044297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044297
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044297
    reference: chr 17
allele count: 1
allele frequency: 1.704855428259683e-5
allele num: 58656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-13G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.193G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-13G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-13G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.429G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.159G>A
  hgvsp: ENST00000453384.3:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+843G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-13G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-13G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.159G>A
  hgvsp: ENST00000447716.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-13G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+843G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-13G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-13G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-13G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-13G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys53Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-27044301-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044301
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044301
    reference: chr 17
allele count: 1
allele frequency: 1.80583646344987e-5
allele num: 55376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-17G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-17G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-17G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-17G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-17G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-17G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-17G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+839G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.155G>A
  hgvsp: ENSP00000410403.1:p.Cys52Tyr
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.155G>A
  hgvsp: ENSP00000413156.3:p.Cys52Tyr
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.189G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-17G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-17G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-17G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.425G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+839G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Cys52Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-27044306-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044306
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044306
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 50220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-22G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.420G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-22G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+834G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-22G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-22G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.150G>T
  hgvsp: ENST00000447716.1:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-22G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-22G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-22G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-22G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.150G>T
  hgvsp: ENST00000453384.3:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+834G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.184G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-22G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-22G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-22G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-22G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-22G>T
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala50Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-27044307-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044307
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044306
    reference: chr 17
allele count: 1
allele frequency: 2.097491400285259e-5
allele num: 47676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-24delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-24delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.182delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-24delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-24delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+832delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-24delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-24delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+832delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.418delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-24delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-24delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-24delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.148delG
  hgvsp: ENSP00000410403.1:p.Ala50ArgfsTer9
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.148delG
  hgvsp: ENSP00000413156.3:p.Ala50ArgfsTer9
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-24delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-24delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-24delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-24delG
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala50ArgfsTer9
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: GC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

17-27044311-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044311
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044311
    reference: chr 17
allele count: 1
allele frequency: 2.365296371635366e-5
allele num: 42278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-2A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.179A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-27A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.415A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-27A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-27A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+829A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-2A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-2A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-27A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+829A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-27A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-27A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-27A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-27A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-27A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-2A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-2A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-27A>G
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.147-2A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-27044319-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044319
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044319
    reference: chr 17
allele count: 1
allele frequency: 3.618468664061369e-5
allele num: 27636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-35G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-10G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-35G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+821G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-35G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-35G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-10G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-35G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-35G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-35G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+821G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-10G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-35G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-35G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-35G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.407G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.171G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-10G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-10G>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

17-27044319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044319
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044319
    reference: chr 17
allele count: 3
allele frequency: 1.085540599218411e-4
allele num: 27636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-35G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-35G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-35G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-35G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-35G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+821G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-10G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-35G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.407G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-35G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-10G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-10G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-35G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.171G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-35G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-35G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-10G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-10G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+821G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

17-27044320-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044320
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044320
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 26402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-36C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-36C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-36C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-11C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-11C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-11C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-36C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-36C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-36C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-36C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+820C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-36C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+820C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-36C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-11C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.170C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-36C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.406C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-11C>A
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-27044322-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044322
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044322
    reference: chr 17
allele count: 269
allele frequency: 1.050617091079519e-2
allele num: 25604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-38G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-13G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-38G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-38G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.404G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-38G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-38G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-38G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-13G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-38G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-38G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-38G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.168G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-13G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-38G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+818G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+818G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-13G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-13G>C
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 19253
  bin: 7.5e0
  variant carriers: 174
genotype quality: GenotypeQuality
num of homozygotes: 3
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-27044323-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044323
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044323
    reference: chr 17
allele count: 1
allele frequency: 4.06603236561763e-5
allele num: 24594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-14C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-39C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-14C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-14C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-39C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-39C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.403C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-14C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-39C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-39C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-39C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-39C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-39C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+817C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-14C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-39C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.167C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-39C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+817C>G
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-27044325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044325
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044325
    reference: chr 17
allele count: 1
allele frequency: 4.46907400786557e-5
allele num: 22376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-16C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+815C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-16C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-16C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.401C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.165C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-16C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-16C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+815C>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/17-27044334-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044334
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044334
    reference: chr 17
allele count: 1
allele frequency: 5.72737686139748e-5
allele num: 17460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-25G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-50G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-50G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-50G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.156G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-50G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-50G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-25G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-50G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.392G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-50G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+806G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-50G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-25G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-50G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-50G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-25G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-25G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+806G>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-27044337-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044337
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044337
    reference: chr 17
allele count: 4
allele frequency: 2.4330900243309e-4
allele num: 16440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-28C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-28C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.153C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-53C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-53C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-53C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-53C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-53C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-53C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.389C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-28C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+803C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-28C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-53C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-53C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-53C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+803C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-28C>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-53C>G
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-27044343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044343
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044343
    reference: chr 17
allele count: 2
allele frequency: 1.408649105507818e-4
allele num: 14198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.147C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-59C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-59C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-59C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-59C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-59C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-34C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-59C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.383C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-34C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-59C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+797C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-34C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-59C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-59C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-59C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-34C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-34C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+797C>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-27044350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044350
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044350
    reference: chr 17
allele count: 2
allele frequency: 1.537751806858373e-4
allele num: 13006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-66C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-66C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+790C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-66C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-66C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-66C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-66C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-66C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-66C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.376C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-66C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.140C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-41C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+790C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-66C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-41C>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-27044353-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044353
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044353
    reference: chr 17
allele count: 2
allele frequency: 1.616292225634395e-4
allele num: 12374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-44G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-44G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-69G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-69G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-69G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-69G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-69G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+787G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-69G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-69G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-69G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-69G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-44G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-44G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-44G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.137G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.373G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+787G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-69G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-27044357-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044357
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044357
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 11930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-73C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-73C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-73C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-73C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-73C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+783C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-48C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-73C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-73C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-48C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-73C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-73C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-48C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-48C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.133C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-73C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.369C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+783C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-48C>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8407
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-27044364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044364
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044364
    reference: chr 17
allele count: 2
allele frequency: 1.746114894360049e-4
allele num: 11454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+776C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-80C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-80C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-80C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-55C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.362C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-80C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-80C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-55C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-80C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-80C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-55C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-55C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-80C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-80C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.126C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-80C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-55C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+776C>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7252
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

17-27044367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044367
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044367
    reference: chr 17
allele count: 1
allele frequency: 9.105809506465124e-5
allele num: 10982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-58C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-83C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-83C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+773C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.359C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-58C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-83C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-58C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-83C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-83C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-83C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+773C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-58C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-83C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-83C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-83C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.123C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-58C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-83C>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

17-27044376-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044376
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044376
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 10136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-92G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-67G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-92G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-92G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-67G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-92G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-92G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.350G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-92G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+764G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-92G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-92G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-92G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-92G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.114G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-67G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-67G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-67G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+764G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

17-27044377-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044377
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044377
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 10100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-93C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-93C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-68C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-93C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+763C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-93C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-93C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-93C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-93C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-93C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-68C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-93C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.349C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-68C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.113C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-68C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-93C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+763C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-68C>A
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 34566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-27044378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044378
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044378
    reference: chr 17
allele count: 1
allele frequency: 9.970089730807577e-5
allele num: 10030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-94C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-94C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-94C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-69C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-94C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+762C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-94C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-94C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-94C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-94C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-69C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-94C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+762C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.112C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-94C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-69C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-69C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-69C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.348C>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

17-27044392-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044392
    reference: chr 17
allele count: 1
allele frequency: 1.075037626316921e-4
allele num: 9302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-108T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-83T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-108T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+748T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+748T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-83T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-108T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-108T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-108T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-108T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-108T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-108T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.334T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.98T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-108T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-83T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-83T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-83T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-108T>C
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

17-27044395-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044395
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044395
    reference: chr 17
allele count: 1
allele frequency: 1.098659635245001e-4
allele num: 9102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-111T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-111T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-111T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-86T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.95T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-111T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.331T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-111T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-86T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000397499
  ensembl transcript: ENST00000422279
  gene symbol: RAB34
  hgvsc: ENST00000422279.2:c.-111T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-86T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-111T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-86T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-111T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-111T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+745T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+745T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-111T>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-86T>C
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

17-27044451-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044451
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044451
    reference: chr 17
allele count: 2
allele frequency: 3.635041802980734e-4
allele num: 5502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-167G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.47-8G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-167G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-167G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-159-8G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.275G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-142G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+689G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-167G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-142G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-142G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-167G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-159-8G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-142G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+689G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-142G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-132-35G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-167G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-159-8G>A
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-27044463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044463
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044463
    reference: chr 17
allele count: 9
allele frequency: 2.016129032258064e-3
allele num: 4464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-154G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-179G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+677G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-154G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-154G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-159-20G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+677G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-179G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-179G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.263G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-159-20G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-179G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-179G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-154G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-179G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-154G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-132-47G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.47-20G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-27044474-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044474
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044474
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 3252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+666G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-165G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-165G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.47-31G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-190G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+666G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-190G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-190G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-190G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-165G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-165G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-190G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-159-31G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-159-31G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-190G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.252G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-165G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-132-58G>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-27044481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044481
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044481
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 2290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-197G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-172G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-172G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-197G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-132-65G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-197G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-159-38G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-197G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+659G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-172G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-197G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+659G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-172G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-172G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.47-38G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-197G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.245G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-159-38G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-27044482-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044482
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044482
    reference: chr 17
allele count: 312
allele frequency: 1.5e-1
allele num: 2080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+658G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.244G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-198G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-159-39G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-159-39G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-198G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.47-39G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-173G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-198G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-173G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-173G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-198G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-173G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+658G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-132-66G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-198G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-198G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-173G>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 2.5e0
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
num of homozygotes: 23
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

17-27044565-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044565
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044565
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 52
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-281A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-281A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.161A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-256A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-281A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+575A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-159-122A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-256A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+575A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-256A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.47-122A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-159-122A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-256A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-281A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-281A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-132-149A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-281A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-256A>G
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-27044568-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044568
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044568
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 50
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-284C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-284C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-259C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-284C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-284C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-259C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-284C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+572C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.47-125C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-259C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-284C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-159-125C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+572C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-132-152C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-259C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-159-125C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.158C>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-259C>A
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-27044580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044580
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044580
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 52
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-271G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-296G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-271G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-296G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-271G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-296G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-296G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-132-164G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.146G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-271G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+560G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-159-137G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+560G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-296G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-296G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-271G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-159-137G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.47-137G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

17-27044603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044603
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044603
    reference: chr 17
allele count: 1
allele frequency: 1.19047619047619e-2
allele num: 84
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-319C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-319C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.123C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-294C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-159-160C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-319C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-319C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-294C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-294C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-132-187C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-319C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-294C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-294C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-319C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+537C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-159-160C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.47-160C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+537C>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

17-27044627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044627
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044627
    reference: chr 17
allele count: 1
allele frequency: 7.142857142857143e-3
allele num: 140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+513C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-327-16C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-318C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-343C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-132-211C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-343C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-343C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-318C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.99C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-318C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-343C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-159-184C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-159-184C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-318C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-343C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+513C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-318C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.47-184C>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-27044667-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044667
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044667
    reference: chr 17
allele count: 2
allele frequency: 1.01010101010101e-2
allele num: 198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-383A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-327-56A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-383A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.47-224A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-358A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-354-29A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+473A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-132-251A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-383A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-159-224A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.59A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-358A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-358A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-381-2A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-358A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+473A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-159-224A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-358A>G
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-381-2A>G
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/17-27044709-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27044709
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27044709
    reference: chr 17
allele count: 2
allele frequency: 1.818181818181818e-2
allele num: 110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-381-44G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-327-98G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-159-266G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378664
  ensembl transcript: ENST00000395243
  gene symbol: RAB34
  hgvsc: ENST00000395243.3:c.-425G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378663
  ensembl transcript: ENST00000395242
  gene symbol: RAB34
  hgvsc: ENST00000395242.2:c.-425G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-354-71G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-132-293G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-25-400G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-25-400G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.47-266G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+431G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000378666
  ensembl transcript: ENST00000395245
  gene symbol: RAB34
  hgvsc: ENST00000395245.3:c.-425G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+431G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000483554
  gene symbol: RAB34
  hgvsc: ENST00000483554.1:n.17G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.147-400G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.147-400G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-25-400G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-159-266G>T
  variant of: http://identifiers.org/hgnc/16519
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-27045097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27045097
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27045097
    reference: chr 17
allele count: 1
allele frequency: 1.158909697756351e-5
allele num: 86288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.146+43G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-133+43G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-26+43G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.46+43G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.146+43G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-26+291G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-26+43G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-382+43G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-160+43G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-328+43G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-160+43G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+43G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+43G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-355+43G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10517
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

17-27045113-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27045113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27045113
    reference: chr 17
allele count: 2
allele frequency: 2.249516353983894e-5
allele num: 88908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-328+27G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-160+27G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-355+27G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-382+27G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+27G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-26+275G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-133+27G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-160+27G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+27G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-26+27G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-26+27G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.46+27G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.146+27G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.146+27G>C
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20707
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15177
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

17-27045114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27045114
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27045114
    reference: chr 17
allele count: 2
allele frequency: 2.237687126585961e-5
allele num: 89378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+26C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-26+26C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.146+26C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.146+26C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-355+26C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-328+26C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-160+26C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.46+26C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-160+26C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-26+26C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-382+26C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-26+274C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+26C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-133+26C>T
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-27045117-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27045117
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27045117
    reference: chr 17
allele count: 1
allele frequency: 1.102511521245397e-5
allele num: 90702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-26+271A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-26+23A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.146+23A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-328+23A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-160+23A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.46+23A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-160+23A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+23A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-133+23A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-355+23A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-382+23A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-26+23A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+23A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.146+23A>G
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-27045125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27045125
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27045125
    reference: chr 17
allele count: 1
allele frequency: 1.065439280615398e-5
allele num: 93858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+15G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-160+15G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-382+15G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.146+15G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+15G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.146+15G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-133+15G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-26+15G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-160+15G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-26+263G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.46+15G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-328+15G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-26+15G>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-355+15G>A
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12023
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-27045130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27045130
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27045130
    reference: chr 17
allele count: 1
allele frequency: 1.042752867570386e-5
allele num: 95900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+10C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.146+10C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-160+10C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.46+10C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-382+10C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-26+10C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+10C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-26+10C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-160+10C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.146+10C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-133+10C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-328+10C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-355+10C>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-26+258C>T
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

17-27045131-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27045131
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27045130
    reference: chr 17
allele count: 14
allele frequency: 1.455150192287704e-4
allele num: 96210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.146+8delT
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-26+256delT
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+8delT
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.46+8delT
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-355+8delT
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-160+8delT
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.146+8delT
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-328+8delT
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-160+8delT
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-26+8delT
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-382+8delT
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+8delT
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-26+8delT
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-133+8delT
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31417
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.146+8delT
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: GA
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/17-27045132-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27045132
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27045131
    reference: chr 17
allele count: 2
allele frequency: 2.07671380807011e-5
allele num: 96306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-133+7delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.146+7delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-160+7delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.146+7delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-26+7delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-26+7delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.146+7delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.46+7delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-355+7delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-160+7delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-328+7delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-382+7delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-26+255delG
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.46+7delG
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.146+7delG
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AC
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-27045149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27045149
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27045149
    reference: chr 17
allele count: 29
allele frequency: 2.861936247902891e-4
allele num: 101330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-169A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-169A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.37A>G
  hgvsp: ENSP00000463488.1:p.Asn13Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.37A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.137A>G
  hgvsp: ENSP00000410403.1:p.Asn46Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-364A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.137A>G
  hgvsp: ENSP00000407953.2:p.Asn46Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.137A>G
  hgvsp: ENSP00000413156.3:p.Asn46Ser
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-337A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-142A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-26+239A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-35A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-35A>G
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-391A>G
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7898
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn46Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-27045155-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27045155
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27045155
    reference: chr 17
allele count: 3
allele frequency: 2.944120591179415e-5
allele num: 101898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-343T>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.131T>A
  hgvsp: ENSP00000410403.1:p.Ile44Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-175T>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.31T>A
  hgvsp: ENSP00000463488.1:p.Ile11Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-397T>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.131T>A
  hgvsp: ENSP00000413156.3:p.Ile44Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.31T>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.131T>A
  hgvsp: ENSP00000407953.2:p.Ile44Asn
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-175T>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-370T>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-41T>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-41T>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-148T>A
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-26+233T>A
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile44Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-27045164-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27045164
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27045164
    reference: chr 17
allele count: 1
allele frequency: 9.848917603955325e-6
allele num: 101534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-184G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.22G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-184G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.122G>T
  hgvsp: ENSP00000407953.2:p.Arg41Leu
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.22G>T
  hgvsp: ENSP00000463488.1:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-157G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.122G>T
  hgvsp: ENSP00000413156.3:p.Arg41Leu
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-50G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.122G>T
  hgvsp: ENSP00000410403.1:p.Arg41Leu
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-50G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-406G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-26+224G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-352G>T
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-379G>T
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg41Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

17-27045164-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27045164
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27045164
    reference: chr 17
allele count: 1
allele frequency: 9.848917603955325e-6
allele num: 101534
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410403
  ensembl transcript: ENST00000447716
  gene symbol: RAB34
  hgvsc: ENST00000447716.1:c.122G>C
  hgvsp: ENSP00000410403.1:p.Arg41Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000413156
  ensembl transcript: ENST00000453384
  gene symbol: RAB34
  hgvsc: ENST00000453384.3:c.122G>C
  hgvsp: ENSP00000413156.3:p.Arg41Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000407953
  ensembl transcript: ENST00000430132
  gene symbol: RAB34
  hgvsc: ENST00000430132.2:c.122G>C
  hgvsp: ENSP00000407953.2:p.Arg41Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000463488
  ensembl transcript: ENST00000583538
  gene symbol: RAB34
  hgvsc: ENST00000583538.1:c.22G>C
  hgvsp: ENSP00000463488.1:p.Arg8Pro
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000464723
  ensembl transcript: ENST00000419712
  gene symbol: RAB34
  hgvsc: ENST00000419712.3:c.-157G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000301043
  ensembl transcript: ENST00000301043
  gene symbol: RAB34
  hgvsc: ENST00000301043.6:c.-184G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000404180
  ensembl transcript: ENST00000436730
  gene symbol: RAB34
  hgvsc: ENST00000436730.3:c.-50G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109113
  ensembl transcript: ENST00000482688
  gene symbol: RAB34
  hgvsc: ENST00000482688.1:n.22G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000391048
  ensembl transcript: ENST00000450529
  gene symbol: RAB34
  hgvsc: ENST00000450529.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000465352
  ensembl transcript: ENST00000580843
  gene symbol: RAB34
  hgvsc: ENST00000580843.2:c.-406G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000476427
  ensembl transcript: ENST00000582934
  gene symbol: RAB34
  hgvsc: ENST00000582934.1:c.-379G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000410279
  ensembl transcript: ENST00000415040
  gene symbol: RAB34
  hgvsc: ENST00000415040.2:c.-184G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000226259
  ensembl transcript: ENST00000353676
  gene symbol: RAB34
  hgvsc: ENST00000353676.5:c.-352G>C
  variant of: http://identifiers.org/hgnc/16519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109113
  ensembl protein: ENSP00000398706
  ensembl transcript: ENST00000412625
  gene symbol: RAB34
  hgvsc: ENST00000412625.1:c.-26+224G>C
  variant of: http://identifiers.org/hgnc/16519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34515
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg41Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

16-84163114-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 84163114
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 84163114
    reference: chr 16
allele count: 2
allele frequency: 1.750424477935899e-5
allele num: 114258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103160
  ensembl protein: ENSP00000407437
  ensembl transcript: ENST00000434463
  gene symbol: HSDL1
  hgvsc: ENST00000434463.3:c.729+39A>G
  variant of: http://identifiers.org/hgnc/16475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103160
  ensembl protein: ENSP00000219439
  ensembl transcript: ENST00000219439
  gene symbol: HSDL1
  hgvsc: ENST00000219439.4:c.894+39A>G
  variant of: http://identifiers.org/hgnc/16475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23403
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 1.856320772229441e-4
  allele num: 10774
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/16-84163120-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 84163120
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 84163120
allele count: 1
allele frequency: 8.707767328456984e-6
allele num: 114840
alternate allele: C
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21636
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16473
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 283
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2956
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2362
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3875
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 12646
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3714
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3836
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16259
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23537
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4305
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.684707903780069e-5
allele num: 37248
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.761e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.393e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.185e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.01362e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

GenotypeDepth
all individuals: 21009
bin: 7.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 6
bin: 4.25e1
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: 1
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2642
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2740
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3665
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 11374
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
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: 18490
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 975
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3620
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3689
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23174
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3343
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18847
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.615746795710175e-5
allele num: 38230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5448
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 2.931e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 8.30931e5

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

QD
type: SiteQuality
SIO_000300: 1.69e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000109113
ensembl protein: ENSP00000407953
ensembl transcript: ENST00000430132
gene symbol: RAB34
hgvsc: ENST00000430132.2:c.146+907delC
variant of: http://identifiers.org/hgnc/16519

GenotypeDepth
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19030
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3147
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8022
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 1695
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3488
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24493
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 419
bin: 3.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 458
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25524
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3143
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 403
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21311
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.431315341599805e-5
allele num: 41130
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.11528e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.469e1

GenotypeDepth
all individuals: 24935
bin: 2.25e1
variant carriers: 244

GenotypeDepth
all individuals: 7404
bin: 1.25e1
variant carriers: 153

GenotypeDepth
all individuals: 3015
bin: 2.5e0
variant carriers: 6

GenotypeDepth
all individuals: 18232
bin: 7.5e0
variant carriers: 50

GenotypeDepth
all individuals: 27
bin: 4.25e1
variant carriers: 23

GenotypeDepth
all individuals: 79
bin: 3.75e1
variant carriers: 35

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 2021
bin: 1.75e1
variant carriers: 221

GenotypeDepth
all individuals: 578
bin: 3.25e1
variant carriers: 119

GenotypeDepth
all individuals: 2
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6
bin: 4.75e1
variant carriers: 6

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

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

GenotypeDepth
all individuals: 4028
bin: 2.75e1
variant carriers: 178

GenotypeDepth
all individuals: 7
bin: 5.25e1
variant carriers: 7

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

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 262
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 20364
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1795
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 970
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24231
bin: 6.25e1
variant carriers: 8

GenotypeQuality
all individuals: 464
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 185
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1157
bin: 5.75e1
variant carriers: 10

GenotypeQuality
all individuals: 835
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 636
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2969
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 1924
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 30
bin: 8.75e1
variant carriers: 16

GenotypeQuality
all individuals: 239
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1335
bin: 6.75e1
variant carriers: 10

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 923
bin: 9.75e1
variant carriers: 919

GenotypeQuality
all individuals: 1528
bin: 5.25e1
variant carriers: 10

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 21

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 18

European (Non-Finnish)
type: Population
allele count: 433
allele frequency: 1.027673612759292e-2
allele num: 42134
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 54
allele frequency: 1.893408134642356e-2
allele num: 2852
num of homozygotes: 1

South Asian
type: Population
allele count: 36
allele frequency: 2.933029167345608e-3
allele num: 12274
num of homozygotes: 1

African
type: Population
allele count: 8
allele frequency: 1.594896331738437e-3
allele num: 5016
num of homozygotes: 0

Latino
type: Population
allele count: 384
allele frequency: 4.42498271491127e-2
allele num: 8678
num of homozygotes: 7

East Asian
type: Population
allele count: 88
allele frequency: 1.441205371765477e-2
allele num: 6106
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 7.142857142857143e-3
allele num: 560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

DP
type: SiteQuality
SIO_000300: 9.37108e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

QD
type: SiteQuality
SIO_000300: 1.096e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

FS
type: SiteQuality
SIO_000300: 1.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeDepth
all individuals: 471
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1814
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4098
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7316
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18278
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 2991
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25354
bin: 2.25e1
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: 0
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20699
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1776
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2922
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25633
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.365184484389782e-5
allele num: 42280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12362
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.36607e5

QD
type: SiteQuality
SIO_000300: 3.53e0

FS
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: -2.792e0

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

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

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

GenotypeDepth
all individuals: 1679
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4426
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6855
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17805
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26190
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2866
bin: 2.5e0
variant carriers: 1

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

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

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

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

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

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

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

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

GenotypeDepth
all individuals: 498
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20421
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27172
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 2.796e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.236e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 9.53657e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.83e0

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

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

GenotypeDepth
all individuals: 17684
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1691
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4502
bin: 2.75e1
variant carriers: 1

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

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

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

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

GenotypeDepth
all individuals: 2835
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 6750
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 26313
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 42
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 533
bin: 3.25e1
variant carriers: 2

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

GenotypeQuality
all individuals: 26831
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 1.135073779795687e-4
allele num: 8810
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 9.310986964618249e-5
allele num: 42960
num of homozygotes: 0

InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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DP
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ReadPosRankSum
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QD
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FS
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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Latino
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South Asian
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allele num: 12880
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

European (Non-Finnish)
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allele num: 44092
num of homozygotes: 0

European (Finnish)
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East Asian
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South Asian
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Other
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African
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InbreedingCoeff
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SIO_000300: -6.3e-3

VQSLOD
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FS
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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FS
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DP
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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Latino
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African
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South Asian
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DP
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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African
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East Asian
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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Other
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South Asian
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European (Finnish)
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DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Latino
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South Asian
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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African
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Latino
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European (Finnish)
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Other
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DP
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VQSLOD
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ReadPosRankSum
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FS
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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African
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Latino
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Other
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European (Finnish)
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FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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South Asian
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African
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Other
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VQSLOD
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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South Asian
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East Asian
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Other
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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FS
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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East Asian
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Latino
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African
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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East Asian
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African
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Latino
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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South Asian
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MQ
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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East Asian
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African
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Latino
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1110
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 8.91583452211127e-5
allele num: 11216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1926
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.20994e5

FS
type: SiteQuality
SIO_000300: 2.846e0

QD
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
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SIO_000300: -1.302e0

ReadPosRankSum
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SIO_000300: 5.7e-2

InbreedingCoeff
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SIO_000300: -5.39e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.908e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

BaseQRankSum
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SIO_000300: 1.3e0

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4626
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.008878127522195e-4
allele num: 9912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1632
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.01946e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.62e-2

FS
type: SiteQuality
SIO_000300: 8.316000000000001e0

VQSLOD
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SIO_000300: -1.249e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.65e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.273560876209883e-4
allele num: 7852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

FS
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
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SIO_000300: -2.163e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.13e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.519999999999999e-2

ReadPosRankSum
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SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 3.54577e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.985e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 5.173305742369374e-4
allele num: 7732
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.27e-1

InbreedingCoeff
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SIO_000300: -6.74e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.935458480913026e-4
allele num: 5082
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
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MQ
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VQSLOD
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QD
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FS
type: SiteQuality
SIO_000300: 7.508e0

InbreedingCoeff
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SIO_000300: -7.21e-2

DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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East Asian
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African
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DP
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MQ
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FS
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QD
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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Latino
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MQRankSum
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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FS
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QD
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MQ
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DP
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VQSLOD
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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QD
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African
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VQSLOD
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MQ
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DP
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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South Asian
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ReadPosRankSum
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VQSLOD
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DP
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FS
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MQ
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BaseQRankSum
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GenotypeQuality
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African
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European (Non-Finnish)
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DP
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FS
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European (Finnish)
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African
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Latino
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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ReadPosRankSum
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BaseQRankSum
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MQ
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QD
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MQRankSum
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VQSLOD
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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QD
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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Latino
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South Asian
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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QD
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DP
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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South Asian
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Other
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European (Non-Finnish)
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QD
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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VQSLOD
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FS
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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MQ
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InbreedingCoeff
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African
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South Asian
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VQSLOD
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QD
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FS
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African
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European (Finnish)
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South Asian
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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BaseQRankSum
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European (Finnish)
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African
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South Asian
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East Asian
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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DP
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FS
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DP
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MQ
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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East Asian
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European (Non-Finnish)
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Latino
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QD
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MQRankSum
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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African
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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Latino
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Other
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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South Asian
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Other
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 53008
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Latino
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Other
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African
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East Asian
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European (Finnish)
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South Asian
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QD
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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DP
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ClippingRankSum
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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East Asian
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South Asian
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QD
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ReadPosRankSum
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ClippingRankSum
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DP
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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South Asian
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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ClippingRankSum
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InbreedingCoeff
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QD
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FS
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MQ
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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European (Finnish)
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num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 3.47758887171561e-3
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African
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.751436177665686e-5
allele num: 57096
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VQSLOD
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DP
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QD
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -2.7e-3

BaseQRankSum
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SIO_000300: 1.33e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele num: 57406
num of homozygotes: 0

South Asian
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Latino
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East Asian
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African
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European (Finnish)
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Other
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MQ
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FS
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ClippingRankSum
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MQRankSum
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DP
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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Latino
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African
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MQ
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

South Asian
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Latino
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Other
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East Asian
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African
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European (Non-Finnish)
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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QD
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ReadPosRankSum
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European (Finnish)
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African
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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MQ
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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